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Epilepsies, Myoclonic (D004831)
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Heredodegenerative Disorders, Nervous System (D020271)
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Familial encephalopathy with neuroserpin inclusion bodies (C536841)

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Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:4570
Name:Familial encephalopathy with neuroserpin inclusion bodies
Definition:
Alternative IDs:DO:DOID:0050831|OMIM:604218
ParentIDs:MESH:D004831|MESH:D020271
TreeNumbers:C10.228.140.490.375.130/C536841 |C10.228.140.490.493.063/C536841 |C10.574.500/C536841 |C16.320.400/C536841
Synonyms:Encephalopathy, familial, with Collins bodies |Encephalopathy, Familial, With Neuroserpin Inclusion Bodies |Familial Dementia with Neuroserpin Inclusion Bodies |FENIB
Slim Mappings:Genetic disease (inborn)|Nervous system disease
Reference: MedGen: C536841
MeSH: C536841
OMIM: 604218;
MSeqDR LSDB:  
Genes: SERPINI1;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0002071Abnormality of extrapyramidal motor function
3 HP:0002059Cerebral atrophy
4 HP:0000726Dementia
NAMDC:  Dementia
5 HP:0000651Diplopia
6 HP:0002936Distal sensory impairment
7 HP:0001260Dysarthria
NAMDC:  Dysarthria
8 HP:0001298Encephalopathy
NAMDC:  Encephalopathy (At least one neurological manifestation marked with an *)
9 HP:0002171Gliosis
10 HP:0001336Myoclonus
NAMDC:  Myoclonus
11 HP:0002529Neuronal loss in central nervous system
12 HP:0000639Nystagmus
13 HP:0001250Seizures
NAMDC:  Seizures
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_007217.4(PDCD10):c.-438G>C-1LOC129937857;PDCD10;SERPINI1Conflicting interpretations of pathogenicity546722173RCV000280104|RCV000337520; NHuman Phenotype Ontology:HP:0033522,MONDO:MONDO:0000820,MedGen:C2919945,OMIM:116860, Orphanet:221061|MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:8511031674526341674526343:g.167452634C>GClinGen:CA10654658C2919945 116860 Cerebral cavernous malformation;
NM_001122752.2(SERPINI1):c.-19+92G>A-1PDCD10;SERPINI1Benign9835352RCV000386276|RCV000406577; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110|MONDO:MONDO:0011305,MedGen:C1864040,OMIM:603285, Orphanet:22106131674537031674537033:g.167453703G>AClinGen:CA10615280C2919945 116860 Cerebral cavernous malformation;
NM_001122752.2(SERPINI1):c.-19+117A>G-1PDCD10;SERPINI1Likely benign145045884RCV000271105|RCV000311644; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110|Human Phenotype Ontology:HP:0033522,MONDO:MONDO:0000820,MedGen:C2919945,OMIM:116860, Orphanet:22106131674537281674537283:g.167453728A>GClinGen:CA10617688C2919945 116860 Cerebral cavernous malformation;
NC_000003.12:g.(?_167684288)_(167825343_?)dup5274SERPINI1Uncertain significance-1RCV001033883; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:851103167402076167543131-1-
NC_000003.11:g.(?_167402096)_(167543111_?)dup5274SERPINI1Uncertain significance-1RCV001931720; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:851103167402096167543111-1-
NC_000003.12:g.167735203T>C5274SERPINI1Benign11714980RCV001518451; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:851103167452991167452991-
NC_000003.12:g.167735251T>C5274SERPINI1Benign9853967RCV001518452; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:851103167453039167453039-
NM_001122752.2(SERPINI1):c.-84GGAGC[3]5274SERPINI1Uncertain significance886058165RCV000371190; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:8511031674535411674535423:g.167453541_167453542insGAGCGClinGen:CA10615781C1858680 604218 Encephalopathy, familial, with neuroserpin inclusion bodies;
NM_001122752.2(SERPINI1):c.-23G>A5274SERPINI1Uncertain significance886058166RCV000276613; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:8511031674536071674536073:g.167453607G>AClinGen:CA10615785C1858680 604218 Encephalopathy, familial, with neuroserpin inclusion bodies;
NM_001122752.2(SERPINI1):c.-19+6C>T5274SERPINI1Uncertain significance562830304RCV001146714; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:8511031674536171674536173:g.167453617C>T-
NM_001122752.2(SERPINI1):c.-19+22G>T5274SERPINI1Uncertain significance1559989168RCV001146715; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:8511031674536331674536333:g.167453633G>T-
NM_001122752.2(SERPINI1):c.-19+48C>T5274SERPINI1Uncertain significance886058167RCV000331710; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:8511031674536591674536593:g.167453659C>TClinGen:CA10615275C1858680 604218 Encephalopathy, familial, with neuroserpin inclusion bodies;
NM_001122752.2(SERPINI1):c.4G>T (p.Ala2Ser)5274SERPINI1Uncertain significance1727409437RCV001948969; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:851103167506920167506920167506920-
NM_001122752.2(SERPINI1):c.5C>T (p.Ala2Val)5274SERPINI1Uncertain significance-1RCV002885516; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:851103167506921167506921NC_000003.11:g.167506921C>T-
NM_001122752.2(SERPINI1):c.10C>T (p.Leu4Phe)5274SERPINI1Uncertain significance1483914626RCV001360349; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:851103167506926167506926167506926-
NM_001122752.2(SERPINI1):c.14G>T (p.Gly5Val)5274SERPINI1Uncertain significance-1RCV003054488; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:851103167506930167506930NC_000003.11:g.167506930G>T-
NM_001122752.2(SERPINI1):c.18C>A (p.Leu6=)5274SERPINI1Likely benign752294814RCV002184778; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:851103167506934167506934167506934-
NM_001122752.2(SERPINI1):c.20T>C (p.Phe7Ser)5274SERPINI1Uncertain significance191197474RCV001881954; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:851103167506936167506936167506936-
NM_001122752.2(SERPINI1):c.21C>G (p.Phe7Leu)5274SERPINI1Benign33917740RCV000326135|RCV001580080|RCV001691979; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110|MedGen:CN169374|MedGen:C36619003167506937167506937NC_000003.11:g.167506937C>GClinGen:CA2694709C1858680 604218 Encephalopathy, familial, with neuroserpin inclusion bodies;
NM_001122752.2(SERPINI1):c.31G>A (p.Val11Ile)5274SERPINI1Uncertain significance2108556179RCV001994091; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:851103167506947167506947167506947-
NM_001122752.2(SERPINI1):c.32T>C (p.Val11Ala)5274SERPINI1Uncertain significance-1RCV003084113; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:851103167506948167506948NC_000003.11:g.167506948T>C-
NM_001122752.2(SERPINI1):c.40A>G (p.Ser14Gly)5274SERPINI1Benign61735307RCV000380725|RCV000518477; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110|MedGen:CN1693743167506956167506956NC_000003.11:g.167506956A>GClinGen:CA2694710C1858680 604218 Encephalopathy, familial, with neuroserpin inclusion bodies;
NM_001122752.2(SERPINI1):c.41G>A (p.Ser14Asn)5274SERPINI1Uncertain significance-1RCV002297977; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:851103167506957167506957167506957-
NM_001122752.2(SERPINI1):c.43A>G (p.Met15Val)5274SERPINI1Uncertain significance1727411590RCV002026150; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:851103167506959167506959167506959-
NM_001122752.2(SERPINI1):c.47C>T (p.Ala16Val)5274SERPINI1Uncertain significance1329426448RCV001929145; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:851103167506963167506963167506963-
NM_001122752.2(SERPINI1):c.51A>G (p.Thr17=)5274SERPINI1Benign34582040RCV000286297|RCV001579670|RCV001691980; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110|MedGen:CN169374|MedGen:C36619003167506967167506967NC_000003.11:g.167506967A>GClinGen:CA2694716C1858680 604218 Encephalopathy, familial, with neuroserpin inclusion bodies;
NM_001122752.2(SERPINI1):c.53G>C (p.Gly18Ala)5274SERPINI1Uncertain significance577994777RCV000804591; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:8511031675069691675069693:g.167506969G>C-
NM_001122752.2(SERPINI1):c.55G>A (p.Ala19Thr)5274SERPINI1Uncertain significance1344969234RCV001050659; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:8511031675069711675069713:g.167506971G>A-
NM_001122752.2(SERPINI1):c.56C>T (p.Ala19Val)5274SERPINI1Uncertain significance-1RCV002305316; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:851103167506972167506972167506972-
NM_001122752.2(SERPINI1):c.62_66dup (p.Glu23fs)5274SERPINI1Uncertain significance1727413504RCV001227722; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:8511031675069761675069773:g.167506976_167506977insTTCCC-
NM_001122752.2(SERPINI1):c.61T>C (p.Phe21Leu)5274SERPINI1Uncertain significance545345009RCV002023425|RCV002548829; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110|MeSH:D030342,MedGen:C09501233167506977167506977167506977-
NM_001122752.2(SERPINI1):c.69G>C (p.Glu23Asp)5274SERPINI1Uncertain significance-1RCV002300054; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:851103167506985167506985167506985-
NM_001122752.2(SERPINI1):c.74C>T (p.Ala25Val)5274SERPINI1Uncertain significance-1RCV002663102; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:851103167506990167506990NC_000003.11:g.167506990C>T-
NM_001122752.2(SERPINI1):c.76A>G (p.Ile26Val)5274SERPINI1Conflicting interpretations of pathogenicity372678518RCV001224483|RCV001579795|RCV002563053; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110|MedGen:CN517202|MeSH:D030342,MedGen:C095012331675069921675069923:g.167506992A>G-
NM_001122752.2(SERPINI1):c.77T>C (p.Ile26Thr)5274SERPINI1Benign146948408RCV000224023|RCV000322804; NMedGen:C3661900|MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:8511031675069931675069933:g.167506993T>CClinGen:CA2694730C1858680 604218 Encephalopathy, familial, with neuroserpin inclusion bodies;
NM_001122752.2(SERPINI1):c.84C>T (p.Asp28=)5274SERPINI1Likely benign2108556255RCV001417777; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:851103167507000167507000167507000-
NM_001122752.2(SERPINI1):c.90A>C (p.Ser30=)5274SERPINI1Likely benign1423056952RCV002147895; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:851103167507006167507006167507006-
NM_001122752.2(SERPINI1):c.95A>G (p.Asn32Ser)5274SERPINI1Uncertain significance1172732406RCV001150945; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:8511031675070111675070113:g.167507011A>G-
NM_001122752.2(SERPINI1):c.106C>A (p.Arg36Ser)5274SERPINI1Benign/Likely benign61735306RCV000377466|RCV001579565; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110|MedGen:CN5172023167507022167507022NC_000003.11:g.167507022C>AClinGen:CA2694733C1858680 604218 Encephalopathy, familial, with neuroserpin inclusion bodies;
NM_001122752.2(SERPINI1):c.106C>T (p.Arg36Cys)5274SERPINI1Uncertain significance61735306RCV000553109; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:8511031675070221675070223:g.167507022C>TClinGen:CA87835648C1858680 604218 Encephalopathy, familial, with neuroserpin inclusion bodies;
NM_001122752.2(SERPINI1):c.107G>A (p.Arg36His)5274SERPINI1Uncertain significance780236670RCV001352170; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:851103167507023167507023167507023-
NM_001122752.2(SERPINI1):c.109C>T (p.Leu37Phe)5274SERPINI1Uncertain significance1727416167RCV001302643; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:851103167507025167507025167507025-
NM_001122752.2(SERPINI1):c.115G>A (p.Ala39Thr)5274SERPINI1Uncertain significance1307825318RCV001991545; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:851103167507031167507031167507031-
NM_001122752.2(SERPINI1):c.133A>G (p.Asn45Asp)5274SERPINI1Uncertain significance769089864RCV001874867; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:851103167507049167507049167507049-
NM_001122752.2(SERPINI1):c.137T>C (p.Ile46Thr)5274SERPINI1Uncertain significance2108556293RCV001884402; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:851103167507053167507053167507053-
NM_001122752.2(SERPINI1):c.140T>C (p.Leu47Pro)5274SERPINI1Uncertain significance-1RCV002651761; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:851103167507056167507056NC_000003.11:g.167507056T>C-
NM_001122752.2(SERPINI1):c.144C>A (p.Phe48Leu)5274SERPINI1Uncertain significance776746623RCV001369209; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:851103167507060167507060167507060-
NM_001122752.2(SERPINI1):c.145T>C (p.Ser49Pro)5274SERPINI1Pathogenic121909051RCV000007502; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:8511031675070611675070613:g.167507061T>CUniProtKB:Q99574#VAR_008520,OMIM:602445.0001,ClinGen:CA118615C1858680 604218 Encephalopathy, familial, with neuroserpin inclusion bodies;
NM_001122752.2(SERPINI1):c.147T>C (p.Ser49=)5274SERPINI1Likely benign1450628576RCV002217989; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:851103167507063167507063167507063-
NM_001122752.2(SERPINI1):c.152T>C (p.Leu51Ser)5274SERPINI1Uncertain significance2108556315RCV001980355; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:851103167507068167507068167507068-
NM_001122752.2(SERPINI1):c.154A>C (p.Ser52Arg)5274SERPINI1Pathogenic1577418477RCV000007503; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:8511031675070701675070703:g.167507070A>COMIM:602445.0002C1858680 604218 Encephalopathy, familial, with neuroserpin inclusion bodies;
NM_001122752.2(SERPINI1):c.158T>C (p.Ile53Thr)5274SERPINI1Uncertain significance-1RCV002301502; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:851103167507074167507074167507074-
NM_001122752.2(SERPINI1):c.161C>T (p.Ala54Val)5274SERPINI1Uncertain significance769948709RCV000282982; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:851103167507077167507077NC_000003.11:g.167507077C>TClinGen:CA2694739C1858680 604218 Encephalopathy, familial, with neuroserpin inclusion bodies;
NM_001122752.2(SERPINI1):c.166G>T (p.Ala56Ser)5274SERPINI1Uncertain significance1050971384RCV000546410; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:8511031675070821675070823:g.167507082G>TClinGen:CA87835651C1858680 604218 Encephalopathy, familial, with neuroserpin inclusion bodies;
NM_001122752.2(SERPINI1):c.175A>G (p.Met59Val)5274SERPINI1Uncertain significance1727418833RCV001224871; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:8511031675070911675070913:g.167507091A>G-
NM_001122752.2(SERPINI1):c.189G>A (p.Gly63=)5274SERPINI1Likely benign-1RCV002837879; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:851103167507105167507105-
NM_001122752.2(SERPINI1):c.192C>T (p.Ala64=)5274SERPINI1Likely benign889665899RCV001479311; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:851103167507108167507108167507108-
NM_001122752.2(SERPINI1):c.198A>G (p.Gly66=)5274SERPINI1Likely benign1288169432RCV001475287; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:851103167507114167507114167507114-
NM_001122752.2(SERPINI1):c.200C>A (p.Ser67Tyr)5274SERPINI1Uncertain significance1577418542RCV000803017; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:8511031675071161675071163:g.167507116C>A-
NM_001122752.2(SERPINI1):c.203C>A (p.Thr68Asn)5274SERPINI1Uncertain significance1577418551RCV001240315; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:8511031675071191675071193:g.167507119C>A-
NM_001122752.2(SERPINI1):c.208A>G (p.Lys70Glu)5274SERPINI1Benign/Likely benign11547811RCV000558814; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:8511031675071241675071243:g.167507124A>GClinGen:CA2694746C1858680 604218 Encephalopathy, familial, with neuroserpin inclusion bodies;
NM_001122752.2(SERPINI1):c.217C>T (p.Arg73Cys)5274SERPINI1Likely benign369596299RCV000531160; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:851103167507133167507133NC_000003.11:g.167507133C>TClinGen:CA2694748C1858680 604218 Encephalopathy, familial, with neuroserpin inclusion bodies;
NM_001122752.2(SERPINI1):c.217C>G (p.Arg73Gly)5274SERPINI1Uncertain significance369596299RCV001370572; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:851103167507133167507133167507133-
NM_001122752.2(SERPINI1):c.218G>A (p.Arg73His)5274SERPINI1Benign139808176RCV000337987; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:851103167507134167507134NC_000003.11:g.167507134G>AClinGen:CA2694749C1858680 604218 Encephalopathy, familial, with neuroserpin inclusion bodies;
NM_001122752.2(SERPINI1):c.220C>G (p.His74Asp)5274SERPINI1Uncertain significance1445299347RCV001323416|RCV003328673; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110|MedGen:CN5172023167507136167507136167507136-
NM_001122752.2(SERPINI1):c.221A>G (p.His74Arg)5274SERPINI1Uncertain significance757918199RCV000793394; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:8511031675071371675071373:g.167507137A>G-
NM_001122752.2(SERPINI1):c.228G>A (p.Met76Ile)5274SERPINI1Uncertain significance-1RCV003067042|RCV003067041; NMeSH:D030342,MedGen:C0950123|MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:851103167507144167507144NC_000003.11:g.167507144G>A-
NM_001122752.2(SERPINI1):c.240C>G (p.Ser80Arg)5274SERPINI1Uncertain significance2108556439RCV001995096; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:851103167507156167507156167507156-
NM_001122752.2(SERPINI1):c.248A>T (p.Asn83Ile)5274SERPINI1Uncertain significance150681002RCV000642683; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:851103167507164167507164NC_000003.11:g.167507164A>TClinGen:CA2694753C1858680 604218 Encephalopathy, familial, with neuroserpin inclusion bodies;
NM_001122752.2(SERPINI1):c.250+5G>A5274SERPINI1Uncertain significance1447537890RCV001039437; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:8511031675071711675071713:g.167507171G>A-
NM_001122752.2(SERPINI1):c.250+9G>A5274SERPINI1Likely benign1218012905RCV002185419; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:851103167507175167507175167507175-
NM_001122752.2(SERPINI1):c.250+11T>C5274SERPINI1Likely benign-1RCV003064516; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:851103167507177167507177NC_000003.11:g.167507177T>C-
NM_001122752.2(SERPINI1):c.250+13A>G5274SERPINI1Benign77880879RCV001150946; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:8511031675071791675071793:g.167507179A>G-
NM_001122752.2(SERPINI1):c.250+14G>C5274SERPINI1Likely benign769937767RCV002179487; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:851103167507180167507180167507180-
NM_001122752.2(SERPINI1):c.251-18T>C5274SERPINI1Likely benign565445764RCV002108870; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:851103167508142167508142167508142-
NM_001122752.2(SERPINI1):c.251-10C>G5274SERPINI1Benign200606523RCV001520843; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:851103167508150167508150167508150-
NM_001122752.2(SERPINI1):c.251-7C>T5274SERPINI1Likely benign751958524RCV001408504; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:851103167508153167508153167508153-
NM_001122752.2(SERPINI1):c.260T>C (p.Phe87Ser)5274SERPINI1Uncertain significance-1RCV002957451; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:851103167508169167508169NC_000003.11:g.167508169T>C-
NM_001122752.2(SERPINI1):c.281C>T (p.Ser94Leu)5274SERPINI1Conflicting interpretations of pathogenicity781486255RCV000405141; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:851103167508190167508190NC_000003.11:g.167508190C>TClinGen:CA2694771C1858680 604218 Encephalopathy, familial, with neuroserpin inclusion bodies;
NM_001122752.2(SERPINI1):c.286A>G (p.Met96Val)5274SERPINI1Uncertain significance372528371RCV000642681|RCV002544669; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110|MeSH:D030342,MedGen:C09501233167508195167508195NC_000003.11:g.167508195A>GClinGen:CA2694772C1858680 604218 Encephalopathy, familial, with neuroserpin inclusion bodies;
NM_001122752.2(SERPINI1):c.287T>C (p.Met96Thr)5274SERPINI1Uncertain significance-1RCV002750202; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:851103167508196167508196NC_000003.11:g.167508196T>C-
NM_001122752.2(SERPINI1):c.289G>A (p.Val97Ile)5274SERPINI1Benign/Likely benign61750375RCV000279563|RCV000440327; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110|MedGen:C36619003167508198167508198NC_000003.11:g.167508198G>AClinGen:CA2694773C1858680 604218 Encephalopathy, familial, with neuroserpin inclusion bodies;
NM_001122752.2(SERPINI1):c.297T>G (p.Ala99=)5274SERPINI1Benign61761891RCV000536912; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:851103167508206167508206NC_000003.11:g.167508206T>GClinGen:CA2694774C1858680 604218 Encephalopathy, familial, with neuroserpin inclusion bodies;
NM_001122752.2(SERPINI1):c.297T>C (p.Ala99=)5274SERPINI1Likely benign61761891RCV001497327; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:851103167508206167508206167508206-
NM_001122752.2(SERPINI1):c.302A>T (p.Glu101Val)5274SERPINI1Uncertain significance749315755RCV001304076; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:851103167508211167508211167508211-
NM_001122752.2(SERPINI1):c.303G>A (p.Glu101=)5274SERPINI1Likely benign-1RCV002572682; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:851103167508212167508212-
NM_001122752.2(SERPINI1):c.306C>T (p.Ser102=)5274SERPINI1Likely benign1727464431RCV001419523; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:851103167508215167508215167508215-
NM_001122752.2(SERPINI1):c.311A>T (p.Tyr104Phe)5274SERPINI1Uncertain significance1727464670RCV001312698; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:851103167508220167508220167508220-
NM_001122752.2(SERPINI1):c.313G>A (p.Val105Met)5274SERPINI1Uncertain significance-1RCV002811045; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:851103167508222167508222NC_000003.11:g.167508222G>A-
NM_001122752.2(SERPINI1):c.316A>G (p.Met106Val)5274SERPINI1Uncertain significance1727465258RCV001217387; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:8511031675082251675082253:g.167508225A>G-
NM_001122752.2(SERPINI1):c.317T>A (p.Met106Lys)5274SERPINI1Uncertain significance768598501RCV001966110; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:851103167508226167508226167508226-
NM_001122752.2(SERPINI1):c.332C>T (p.Ser111Phe)5274SERPINI1Uncertain significance769602150RCV001042566; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:8511031675082411675082413:g.167508241C>T-
NM_001122752.2(SERPINI1):c.336G>C (p.Leu112Phe)5274SERPINI1Uncertain significance2108557115RCV001884756; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:851103167508245167508245167508245-
NM_001122752.2(SERPINI1):c.340G>A (p.Val114Met)5274SERPINI1Likely benign61735308RCV000549106|RCV002528408; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110|MeSH:D030342,MedGen:C095012331675082491675082493:g.167508249G>AClinGen:CA2694784C1858680 604218 Encephalopathy, familial, with neuroserpin inclusion bodies;
NM_001122752.2(SERPINI1):c.340G>T (p.Val114Leu)5274SERPINI1Uncertain significance61735308RCV001339551; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:851103167508249167508249167508249-
NM_001122752.2(SERPINI1):c.342G>A (p.Val114=)5274SERPINI1Likely benign373426986RCV001473697; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:851103167508251167508251167508251-
NM_001122752.2(SERPINI1):c.350G>A (p.Gly117Glu)5274SERPINI1Uncertain significance1727467568RCV001343285; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:851103167508259167508259167508259-
NM_001122752.2(SERPINI1):c.352T>C (p.Phe118Leu)5274SERPINI1Uncertain significance-1RCV002653171; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:851103167508261167508261NC_000003.11:g.167508261T>C-
NM_001122752.2(SERPINI1):c.372T>C (p.Phe124=)5274SERPINI1Likely benign2108557153RCV002213554; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:851103167508281167508281167508281-
NM_001122752.2(SERPINI1):c.388A>C (p.Lys130Gln)5274SERPINI1Uncertain significance967193064RCV000816179; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:8511031675082971675082973:g.167508297A>C-
NM_001122752.2(SERPINI1):c.402A>G (p.Ala134=)5274SERPINI1Likely benign2108557185RCV001427608; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:851103167508311167508311167508311-
NM_001122752.2(SERPINI1):c.404C>T (p.Ala135Val)5274SERPINI1Benign/Likely benign746127233RCV000334633; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:851103167508313167508313NC_000003.11:g.167508313C>TClinGen:CA2694795C1858680 604218 Encephalopathy, familial, with neuroserpin inclusion bodies;
NM_001122752.2(SERPINI1):c.410A>G (p.Asn137Ser)5274SERPINI1Uncertain significance886058168RCV000403236; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:851103167508319167508319NC_000003.11:g.167508319A>GClinGen:CA10617692C1858680 604218 Encephalopathy, familial, with neuroserpin inclusion bodies;
NM_001122752.2(SERPINI1):c.414T>C (p.His138=)5274SERPINI1Likely benign758630825RCV000930323|RCV001079632; NMedGen:CN517202|MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:8511031675083231675083233:g.167508323T>C-
NM_001122752.2(SERPINI1):c.425_428del (p.Ser142fs)5274SERPINI1Uncertain significance-1RCV002982851; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:851103167508331167508334NC_000003.11:g.167508334_167508337del-
NM_001122752.2(SERPINI1):c.427C>T (p.Gln143Ter)5274SERPINI1Uncertain significance-1RCV002663327; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:851103167508336167508336NC_000003.11:g.167508336C>T-
NM_001122752.2(SERPINI1):c.432T>C (p.Asn144=)5274SERPINI1Benign/Likely benign140116256RCV000315121|RCV001579788; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110|MedGen:C36619003167508341167508341NC_000003.11:g.167508341T>CClinGen:CA2694798C1858680 604218 Encephalopathy, familial, with neuroserpin inclusion bodies;
NM_001122752.2(SERPINI1):c.438C>T (p.Ala146=)5274SERPINI1Likely benign769806907RCV001415445; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:851103167508347167508347167508347-
NM_001122752.2(SERPINI1):c.439G>A (p.Val147Met)5274SERPINI1Uncertain significance772999261RCV000697708; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:8511031675083481675083483:g.167508348G>A-C1858680 604218 Encephalopathy, familial, with neuroserpin inclusion bodies;
NM_001122752.2(SERPINI1):c.441G>T (p.Val147=)5274SERPINI1Likely benign1577419314RCV001413166; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:8511031675083501675083503:g.167508350G>T-
NM_001122752.2(SERPINI1):c.446A>C (p.Asn149Thr)5274SERPINI1Uncertain significance-1RCV002903040; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:851103167508355167508355NC_000003.11:g.167508355A>C-
NM_001122752.2(SERPINI1):c.449A>T (p.Tyr150Phe)5274SERPINI1Uncertain significance567043099RCV001918249; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:851103167508358167508358167508358-
NM_001122752.2(SERPINI1):c.456T>G (p.Asn152Lys)5274SERPINI1Uncertain significance759200368RCV001043516; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:8511031675083651675083653:g.167508365T>G-
NM_001122752.2(SERPINI1):c.462G>A (p.Trp154Ter)5274SERPINI1Uncertain significance1727473660RCV001325506; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:851103167508371167508371167508371-
NM_001122752.2(SERPINI1):c.467A>T (p.Glu156Val)5274SERPINI1Uncertain significance2108557247RCV001976042; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:851103167508376167508376167508376-
NM_001122752.2(SERPINI1):c.473A>G (p.Asn158Ser)5274SERPINI1Conflicting interpretations of pathogenicity767144751RCV000550303|RCV002526149; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110|MeSH:D030342,MedGen:C095012331675083821675083823:g.167508382A>GClinGen:CA2694805C1858680 604218 Encephalopathy, familial, with neuroserpin inclusion bodies;
NM_001122752.2(SERPINI1):c.481+4T>C5274SERPINI1Uncertain significance1191891165RCV001972227; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:851103167508394167508394167508394-
NM_001122752.2(SERPINI1):c.481+8A>G5274SERPINI1Likely benign-1RCV002597375; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:851103167508398167508398NC_000003.11:g.167508398A>G-
NM_001122752.2(SERPINI1):c.481+13G>A5274SERPINI1Likely benign-1RCV002899436; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:851103167508403167508403NC_000003.11:g.167508403G>A-
NM_001122752.2(SERPINI1):c.482-20A>G5274SERPINI1Benign2420038RCV002156552; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:851103167510358167510358167510358-
NM_001122752.2(SERPINI1):c.482-10dup5274SERPINI1Benign772199277RCV002177861; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:851103167510362167510363167510362-
NM_001122752.2(SERPINI1):c.482-7del5274SERPINI1Likely benign780104028RCV001443977; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:851103167510371167510371167510370-
NM_001122752.2(SERPINI1):c.482-6A>C5274SERPINI1Likely benign773900198RCV001454650; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:851103167510372167510372167510372-
NM_001122752.2(SERPINI1):c.482-5A>G5274SERPINI1Uncertain significance1382961035RCV002031835; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:851103167510373167510373167510373-
NM_001122752.2(SERPINI1):c.482A>T (p.Asn161Ile)5274SERPINI1Uncertain significance1553774731RCV000524880; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:8511031675103781675103783:g.167510378A>TClinGen:CA355156431C1858680 604218 Encephalopathy, familial, with neuroserpin inclusion bodies;
NM_001122752.2(SERPINI1):c.487G>A (p.Val163Met)5274SERPINI1Uncertain significance-1RCV003003317; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:851103167510383167510383NC_000003.11:g.167510383G>A-
NM_001122752.2(SERPINI1):c.493G>A (p.Asp165Asn)5274SERPINI1Uncertain significance1453020878RCV001321207; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:851103167510389167510389167510389-
NM_001122752.2(SERPINI1):c.496T>C (p.Leu166=)5274SERPINI1Likely benign1727566141RCV001478805; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:851103167510392167510392167510392-
NM_001122752.2(SERPINI1):c.502T>A (p.Ser168Thr)5274SERPINI1Uncertain significance-1RCV002681642; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:851103167510398167510398NC_000003.11:g.167510398T>A-
NM_001122752.2(SERPINI1):c.508A>G (p.Arg170Gly)5274SERPINI1Conflicting interpretations of pathogenicity774989939RCV000691347|RCV003311880; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110|MedGen:C36619003167510404167510404NC_000003.11:g.167510404A>G-C1858680 604218 Encephalopathy, familial, with neuroserpin inclusion bodies;
NM_001122752.2(SERPINI1):c.518A>G (p.Asp173Gly)5274SERPINI1Benign/Likely benign61735309RCV000367431|RCV000514114; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110|MedGen:C36619003167510414167510414NC_000003.11:g.167510414A>GClinGen:CA2694830C1858680 604218 Encephalopathy, familial, with neuroserpin inclusion bodies;
NM_001122752.2(SERPINI1):c.521C>T (p.Ala174Val)5274SERPINI1Uncertain significance1307589619RCV001995711; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:851103167510417167510417167510417-
NM_001122752.2(SERPINI1):c.524C>T (p.Ala175Val)5274SERPINI1Uncertain significance1727567949RCV001144850; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:8511031675104201675104203:g.167510420C>T-
NM_001122752.2(SERPINI1):c.526A>G (p.Thr176Ala)5274SERPINI1Uncertain significance762427588RCV000705876; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:851103167510422167510422NC_000003.11:g.167510422A>G-C1858680 604218 Encephalopathy, familial, with neuroserpin inclusion bodies;
NM_001122752.2(SERPINI1):c.530A>C (p.Tyr177Ser)5274SERPINI1Uncertain significance-1RCV002842715; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:851103167510426167510426NC_000003.11:g.167510426A>C-
NM_001122752.2(SERPINI1):c.552C>A (p.Val184=)5274SERPINI1Likely benign1577420587RCV000976795; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:8511031675104481675104483:g.167510448C>A-
NM_001122752.2(SERPINI1):c.554A>G (p.Tyr185Cys)5274SERPINI1Uncertain significance-1RCV003093113; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:851103167510450167510450NC_000003.11:g.167510450A>G-
NM_001122752.2(SERPINI1):c.566A>G (p.Asn189Ser)5274SERPINI1Uncertain significance566381455RCV001234665; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:8511031675104621675104623:g.167510462A>G-
NM_001122752.2(SERPINI1):c.573G>A (p.Lys191=)5274SERPINI1Likely benign1553774750RCV000642686; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:851103167510469167510469NC_000003.11:g.167510469G>AClinGen:CA436846985C1858680 604218 Encephalopathy, familial, with neuroserpin inclusion bodies;
NM_001122752.2(SERPINI1):c.575C>T (p.Ser192Leu)5274SERPINI1Uncertain significance777452195RCV001323579; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:851103167510471167510471167510471-
NM_001122752.2(SERPINI1):c.576G>A (p.Ser192=)5274SERPINI1Benign2229697RCV000395296|RCV001618611|RCV001579708; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110|MedGen:C3661900|MedGen:CN1693743167510472167510472NC_000003.11:g.167510472G>AClinGen:CA2694839C1858680 604218 Encephalopathy, familial, with neuroserpin inclusion bodies;
NM_001122752.2(SERPINI1):c.576G>C (p.Ser192=)5274SERPINI1Likely benign-1RCV002721270; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:851103167510472167510472-
NM_001122752.2(SERPINI1):c.582T>C (p.Phe194=)5274SERPINI1Likely benign370446701RCV001460561; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:851103167510478167510478167510478-
NM_001122752.2(SERPINI1):c.585G>A (p.Arg195=)5274SERPINI1Likely benign976025763RCV001397279; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:851103167510481167510481167510481-
NM_001122752.2(SERPINI1):c.586C>T (p.Pro196Ser)5274SERPINI1Uncertain significance1443427135RCV001253179; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:8511031675104821675104823:g.167510482C>T-
NM_001122752.2(SERPINI1):c.596C>T (p.Thr199Ile)5274SERPINI1Uncertain significance61761892RCV001979196; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:851103167510492167510492167510492-
NM_001122752.2(SERPINI1):c.602C>G (p.Thr201Ser)5274SERPINI1Uncertain significance778816229RCV001998421; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:851103167510498167510498167510498-
NM_001122752.2(SERPINI1):c.629G>T (p.Ser210Ile)5274SERPINI1Uncertain significance1296179457RCV001326471; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:851103167510525167510525167510525-
NM_001122752.2(SERPINI1):c.629G>A (p.Ser210Asn)5274SERPINI1Uncertain significance-1RCV002653550; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:851103167510525167510525NC_000003.11:g.167510525G>A-
NM_001122752.2(SERPINI1):c.646A>G (p.Met216Val)5274SERPINI1Uncertain significance-1RCV003072426; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:851103167510542167510542NC_000003.11:g.167510542A>G-
NM_001122752.2(SERPINI1):c.674A>G (p.Tyr225Cys)5274SERPINI1Uncertain significance1727575153RCV001339192; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:851103167510570167510570167510570-
NM_001122752.2(SERPINI1):c.676+14dup5274SERPINI1Benign-1RCV002963225; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:851103167510580167510581NC_000003.11:g.167510586dup-
NM_001122752.2(SERPINI1):c.676+8del5274SERPINI1Likely benign-1RCV003034069; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:851103167510580167510580NC_000003.11:g.167510580del-
NM_001122752.2(SERPINI1):c.676+8A>C5274SERPINI1Likely benign-1RCV003049675; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:851103167510580167510580NC_000003.11:g.167510580A>C-
NM_001122752.2(SERPINI1):c.676+10T>C5274SERPINI1Likely benign-1RCV002861436; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:851103167510582167510582NC_000003.11:g.167510582T>C-
NM_001122752.2(SERPINI1):c.677-20G>A5274SERPINI1Likely benign372974126RCV001986573; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:851103167512388167512388167512388-
NM_001122752.2(SERPINI1):c.681A>G (p.Glu227=)5274SERPINI1Likely benign1560010596RCV001403589; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:851103167512412167512412167512412-
NM_001122752.2(SERPINI1):c.684T>C (p.Phe228=)5274SERPINI1Likely benign557897218RCV001445287; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:8511031675124151675124153:g.167512415T>CClinGen:CA2694869C1858680 604218 Encephalopathy, familial, with neuroserpin inclusion bodies;
NM_001122752.2(SERPINI1):c.694T>G (p.Ser232Ala)5274SERPINI1Uncertain significance749782862RCV002010771; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:851103167512425167512425167512425-
NM_001122752.2(SERPINI1):c.700G>C (p.Glu234Gln)5274SERPINI1Uncertain significance-1RCV003005608; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:851103167512431167512431NC_000003.11:g.167512431G>C-
NM_001122752.2(SERPINI1):c.703G>T (p.Ala235Ser)5274SERPINI1Uncertain significance774334657RCV001246094; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:8511031675124341675124343:g.167512434G>T-
NM_001122752.2(SERPINI1):c.717C>T (p.Tyr239=)5274SERPINI1Likely benign775700678RCV001484199; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:8511031675124481675124483:g.167512448C>T-
NM_001122752.2(SERPINI1):c.726A>G (p.Leu242=)5274SERPINI1Likely benign-1RCV002805405; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:851103167512457167512457-
NM_001122752.2(SERPINI1):c.731T>C (p.Ile244Thr)5274SERPINI1Uncertain significance2108559866RCV001957350; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:851103167512462167512462167512462-
NM_001122752.2(SERPINI1):c.738T>C (p.Tyr246=)5274SERPINI1Likely benign758312709RCV001460047; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:851103167512469167512469167512469-
NM_001122752.2(SERPINI1):c.747T>C (p.Asp249=)5274SERPINI1Likely benign751092222RCV002085072; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:851103167512478167512478167512478-
NM_001122752.2(SERPINI1):c.751A>G (p.Ile251Val)5274SERPINI1Uncertain significance1553774954RCV000642685; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:851103167512482167512482NC_000003.11:g.167512482A>GClinGen:CA355157056C1858680 604218 Encephalopathy, familial, with neuroserpin inclusion bodies;
NM_001122752.2(SERPINI1):c.754A>G (p.Ser252Gly)5274SERPINI1Uncertain significance-1RCV002649461; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:851103167512485167512485NC_000003.11:g.167512485A>G-
NM_001122752.2(SERPINI1):c.760A>C (p.Met254Leu)5274SERPINI1Uncertain significance1553774956RCV000525804; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:8511031675124911675124913:g.167512491A>CClinGen:CA355157079C1858680 604218 Encephalopathy, familial, with neuroserpin inclusion bodies;
NM_001122752.2(SERPINI1):c.770T>C (p.Leu257Pro)5274SERPINI1Uncertain significance1466251791RCV001042016; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:8511031675125011675125013:g.167512501T>C-
NM_001122752.2(SERPINI1):c.778C>A (p.Gln260Lys)5274SERPINI1Uncertain significance780784169RCV001298379; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:851103167512509167512509167512509-
NM_001122752.2(SERPINI1):c.787C>T (p.Pro263Ser)5274SERPINI1Uncertain significance2108559919RCV001997646; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:851103167512518167512518167512518-
NM_001122752.2(SERPINI1):c.796A>G (p.Thr266Ala)5274SERPINI1Uncertain significance1210708843RCV001323417; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:851103167512527167512527167512527-
NM_001122752.2(SERPINI1):c.817G>A (p.Ala273Thr)5274SERPINI1Likely benign778331359RCV000555514; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:851103167512548167512548NC_000003.11:g.167512548G>AClinGen:CA2694886C1858680 604218 Encephalopathy, familial, with neuroserpin inclusion bodies;
NM_001122752.2(SERPINI1):c.818C>T (p.Ala273Val)5274SERPINI1Uncertain significance2108559943RCV001893327; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:851103167512549167512549167512549-
NM_001122752.2(SERPINI1):c.829G>A (p.Glu277Lys)5274SERPINI1Uncertain significance2108559953RCV002013740|RCV002246654; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110|MedGen:CN1693743167512560167512560167512560-
NM_001122752.2(SERPINI1):c.838G>A (p.Ala280Thr)5274SERPINI1Benign55872908RCV000309204|RCV000992922|RCV001579339; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110|MedGen:C3661900|MedGen:CN16937431675125691675125693:g.167512569G>AClinGen:CA2694888C1858680 604218 Encephalopathy, familial, with neuroserpin inclusion bodies;
NM_001122752.2(SERPINI1):c.838G>T (p.Ala280Ser)5274SERPINI1Uncertain significance-1RCV002766064; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:851103167512569167512569NC_000003.11:g.167512569G>T-
NM_001122752.2(SERPINI1):c.841A>C (p.Asn281His)5274SERPINI1Uncertain significance151212615RCV001321577; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:851103167512572167512572167512572-
NM_001122752.2(SERPINI1):c.843C>G (p.Asn281Lys)5274SERPINI1Uncertain significance1553774967RCV000540311; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:8511031675125741675125743:g.167512574C>GClinGen:CA355157259C1858680 604218 Encephalopathy, familial, with neuroserpin inclusion bodies;
NM_001122752.2(SERPINI1):c.844T>G (p.Ser282Ala)5274SERPINI1Uncertain significance-1RCV002975911|RCV002975912; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110|MeSH:D030342,MedGen:C09501233167512575167512575NC_000003.11:g.167512575T>G-
NM_001122752.2(SERPINI1):c.846T>C (p.Ser282=)5274SERPINI1Likely benign-1RCV003012160; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:851103167512577167512577-
NM_001122752.2(SERPINI1):c.854A>C (p.Lys285Thr)5274SERPINI1Uncertain significance772141992RCV000700252; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:851103167512585167512585NC_000003.11:g.167512585A>C-C1858680 604218 Encephalopathy, familial, with neuroserpin inclusion bodies;
NM_001122752.2(SERPINI1):c.854A>G (p.Lys285Arg)5274SERPINI1Uncertain significance772141992RCV001887545; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:851103167512585167512585167512585-
NM_001122752.2(SERPINI1):c.862G>A (p.Val288Ile)5274SERPINI1Uncertain significance760906938RCV001226275; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:8511031675125931675125933:g.167512593G>A-
NM_001122752.2(SERPINI1):c.863T>C (p.Val288Ala)5274SERPINI1Uncertain significance-1RCV003136568; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:851103167512594167512594NC_000003.11:g.167512594T>C-
NM_001122752.2(SERPINI1):c.874C>A (p.Leu292Met)5274SERPINI1Uncertain significance-1RCV003023736; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:851103167512605167512605NC_000003.11:g.167512605C>A-
NM_001122752.2(SERPINI1):c.876G>T (p.Leu292=)5274SERPINI1Likely benign2108559999RCV001474419; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:851103167512607167512607167512607-
NM_001122752.2(SERPINI1):c.879C>T (p.Pro293=)5274SERPINI1Likely benign-1RCV003002458; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:851103167512610167512610-
NM_001122752.2(SERPINI1):c.881+4T>G5274SERPINI1Uncertain significance766034834RCV000814090; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:8511031675126161675126163:g.167512616T>G-
NM_001122752.2(SERPINI1):c.881+10T>G5274SERPINI1Benign113533056RCV000552771; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:8511031675126221675126223:g.167512622T>GClinGen:CA2694899C1858680 604218 Encephalopathy, familial, with neuroserpin inclusion bodies;
NM_001122752.2(SERPINI1):c.881+13T>G5274SERPINI1Likely benign372395802RCV002158254; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:851103167512625167512625167512625-
NM_001122752.2(SERPINI1):c.881+15T>G5274SERPINI1Likely benign1214620302RCV002198387; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:851103167512627167512627167512627-
NM_001122752.2(SERPINI1):c.892G>A (p.Glu298Lys)5274SERPINI1Uncertain significance2108567236RCV002023308; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:851103167525042167525042167525042-
NM_001122752.2(SERPINI1):c.898G>A (p.Glu300Lys)5274SERPINI1Uncertain significance1711680491RCV001319173; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:851103167525048167525048167525048-
NM_001122752.2(SERPINI1):c.904G>A (p.Asp302Asn)5274SERPINI1Uncertain significance2108567247RCV001937814; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:851103167525054167525054167525054-
NM_001122752.2(SERPINI1):c.914A>C (p.Asp305Ala)5274SERPINI1Uncertain significance756818970RCV000642684; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:851103167525064167525064NC_000003.11:g.167525064A>CClinGen:CA355157433C1858680 604218 Encephalopathy, familial, with neuroserpin inclusion bodies;
NM_001122752.2(SERPINI1):c.914A>T (p.Asp305Val)5274SERPINI1Uncertain significance756818970RCV001046357; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:8511031675250641675250643:g.167525064A>T-
NM_001122752.2(SERPINI1):c.917T>C (p.Val306Ala)5274SERPINI1Conflicting interpretations of pathogenicity779353952RCV001048000|RCV002553175; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110|MeSH:D030342,MedGen:C095012331675250671675250673:g.167525067T>C-
NM_001122752.2(SERPINI1):c.923A>C (p.Lys308Thr)5274SERPINI1Uncertain significance201695047RCV001304376; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:851103167525073167525073167525073-
NM_001122752.2(SERPINI1):c.929T>G (p.Leu310Arg)5274SERPINI1Uncertain significance-1RCV003054869; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:851103167525079167525079NC_000003.11:g.167525079T>G-
NM_001122752.2(SERPINI1):c.957T>C (p.Asp319=)5274SERPINI1Likely benign1711682457RCV002174404; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:851103167525107167525107167525107-
NM_001122752.2(SERPINI1):c.959C>G (p.Ala320Gly)5274SERPINI1Uncertain significance886058169RCV000366113; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:851103167525109167525109NC_000003.11:g.167525109C>GClinGen:CA10615284C1858680 604218 Encephalopathy, familial, with neuroserpin inclusion bodies;
NM_001122752.2(SERPINI1):c.963T>A (p.Asn321Lys)5274SERPINI1Uncertain significance1711682663RCV001342493; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:851103167525113167525113167525113-
NM_001122752.2(SERPINI1):c.965T>G (p.Leu322Trp)5274SERPINI1Uncertain significance1271122328RCV001301595; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:851103167525115167525115167525115-
NM_001122752.2(SERPINI1):c.972C>A (p.Gly324=)5274SERPINI1Likely benign554583291RCV001484198; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:851103167525122167525122167525122-
NM_001122752.2(SERPINI1):c.974T>G (p.Leu325Arg)5274SERPINI1Uncertain significance-1RCV002875564; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:851103167525124167525124NC_000003.11:g.167525124T>G-
NM_001122752.2(SERPINI1):c.975C>G (p.Leu325=)5274SERPINI1Likely benign2108567299RCV002088890; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:851103167525125167525125167525125-
NM_001122752.2(SERPINI1):c.976_977delinsCT (p.Ser326Leu)5274SERPINI1Uncertain significance2108567301RCV001935261; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:851103167525126167525127167525126-
NM_001122752.2(SERPINI1):c.979+4A>C5274SERPINI1Uncertain significance-1RCV002592014; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:851103167525133167525133NC_000003.11:g.167525133A>C-
NC_000003.12:g.(?_167822966)_(167825343_?)del5274SERPINI1Uncertain significance-1RCV001033645; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:851103167540754167543131-1-
NM_001122752.2(SERPINI1):c.980-7T>G5274SERPINI1Likely benign1459038029RCV002092265; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:851103167540767167540767167540767-
NM_001122752.2(SERPINI1):c.982A>C (p.Asn328His)5274SERPINI1Uncertain significance-1RCV002794934; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:851103167540776167540776NC_000003.11:g.167540776A>C-
NM_001122752.2(SERPINI1):c.982A>G (p.Asn328Asp)5274SERPINI1Uncertain significance-1RCV003012279; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:851103167540776167540776NC_000003.11:g.167540776A>G-
NM_001122752.2(SERPINI1):c.990G>T (p.Glu330Asp)5274SERPINI1Likely benign372246975RCV000533625; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:851103167540784167540784NC_000003.11:g.167540784G>TClinGen:CA2694958C1858680 604218 Encephalopathy, familial, with neuroserpin inclusion bodies;
NM_001122752.2(SERPINI1):c.1006G>A (p.Ala336Thr)5274SERPINI1Uncertain significance1268255256RCV002010495; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:851103167540800167540800167540800-
NM_001122752.2(SERPINI1):c.1008A>G (p.Ala336=)5274SERPINI1Likely benign1330766416RCV002107935; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:851103167540802167540802167540802-
NM_001122752.2(SERPINI1):c.1013A>G (p.His338Arg)5274SERPINI1Pathogenic121909052RCV000007504; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:8511031675408071675408073:g.167540807A>GClinGen:CA118617,OMIM:602445.0003C1858680 604218 Encephalopathy, familial, with neuroserpin inclusion bodies;
NM_001122752.2(SERPINI1):c.1020C>A (p.Ser340=)5274SERPINI1Likely benign-1RCV002616477; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:851103167540814167540814-
NM_001122752.2(SERPINI1):c.1026A>G (p.Leu342=)5274SERPINI1Likely benign2108575349RCV001505141; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:851103167540820167540820167540820-
NM_001122752.2(SERPINI1):c.1033A>G (p.Asn345Asp)5274SERPINI1Uncertain significance200482511RCV001224655; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:8511031675408271675408273:g.167540827A>G-
NM_001122752.2(SERPINI1):c.1035T>C (p.Asn345=)5274SERPINI1Likely benign1044875919RCV002143326; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:851103167540829167540829167540829-
NM_001122752.2(SERPINI1):c.1039G>T (p.Glu347Ter)5274SERPINI1Uncertain significance1560020073RCV000697834; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:851103167540833167540833NC_000003.11:g.167540833G>T-C1858680 604218 Encephalopathy, familial, with neuroserpin inclusion bodies;
NM_001122752.2(SERPINI1):c.1046C>T (p.Ser349Leu)5274SERPINI1Uncertain significance-1RCV002816048; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:851103167540840167540840NC_000003.11:g.167540840C>T-
NM_001122752.2(SERPINI1):c.1062C>A (p.Val354=)5274SERPINI1Likely benign-1RCV002614046; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:851103167540856167540856-
NM_001122752.2(SERPINI1):c.1066+10G>T5274SERPINI1Likely benign773079957RCV001464523; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:851103167540870167540870167540870-
NM_001122752.2(SERPINI1):c.1067-20A>G5274SERPINI1Likely benign-1RCV002794798; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:851103167542241167542241NC_000003.11:g.167542241A>G-
NM_001122752.2(SERPINI1):c.1067-14T>C5274SERPINI1Likely benign-1RCV002908223; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:851103167542247167542247NC_000003.11:g.167542247T>C-
NM_001122752.2(SERPINI1):c.1067-11C>T5274SERPINI1Likely benign-1RCV003034214; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:851103167542250167542250NC_000003.11:g.167542250C>T-
NM_001122752.2(SERPINI1):c.1067-6C>T5274SERPINI1Conflicting interpretations of pathogenicity759360650RCV001146819; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:8511031675422551675422553:g.167542255C>T-
NM_001122752.2(SERPINI1):c.1067-4G>A5274SERPINI1Likely benign1414777080RCV001436634; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:851103167542257167542257167542257-
NM_001122752.2(SERPINI1):c.1071G>C (p.Met357Ile)5274SERPINI1Uncertain significance1168773849RCV002023614; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:851103167542265167542265167542265-
NM_001122752.2(SERPINI1):c.1071G>A (p.Met357Ile)5274SERPINI1Uncertain significance1168773849RCV001887439; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:851103167542265167542265167542265-
NM_001122752.2(SERPINI1):c.1097T>C (p.Leu366Pro)5274SERPINI1Uncertain significance-1RCV002303869; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:851103167542291167542291167542291-
NM_001122752.2(SERPINI1):c.1116C>T (p.Val372=)5274SERPINI1Likely benign142605327RCV001478243|RCV003434263; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110|MedGen:C36619003167542310167542310167542310-
NM_001122752.2(SERPINI1):c.1117G>A (p.Asp373Asn)5274SERPINI1Uncertain significance767865960RCV000689787; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:8511031675423111675423113:g.167542311G>A-C1858680 604218 Encephalopathy, familial, with neuroserpin inclusion bodies;
NM_001122752.2(SERPINI1):c.1125A>G (p.Pro375=)5274SERPINI1Likely benign753147816RCV001405245; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:851103167542319167542319167542319-
NM_001122752.2(SERPINI1):c.1139T>C (p.Ile380Thr)5274SERPINI1Uncertain significance1560020646RCV000713180|RCV000824175; NMedGen:CN517202|MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:851103167542333167542333NC_000003.11:g.167542333T>C-
NM_001122752.2(SERPINI1):c.1141A>C (p.Arg381=)5274SERPINI1Likely benign-1RCV002876417; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:851103167542335167542335-
NM_001122752.2(SERPINI1):c.1157-4A>G5274SERPINI1Likely benign2108576458RCV001498991; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:851103167543031167543031167543031-
NM_001122752.2(SERPINI1):c.1162A>C (p.Ile388Leu)5274SERPINI1Uncertain significance1712477543RCV001223313; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:8511031675430401675430403:g.167543040A>C-
NM_001122752.2(SERPINI1):c.1173G>A (p.Met391Ile)5274SERPINI1Uncertain significance1370761997RCV000793055; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:8511031675430511675430513:g.167543051G>A-
NM_001122752.2(SERPINI1):c.1173G>C (p.Met391Ile)5274SERPINI1Uncertain significance1370761997RCV001365009; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:851103167543051167543051167543051-
NM_001122752.2(SERPINI1):c.1174G>A (p.Gly392Arg)5274SERPINI1Pathogenic121909054RCV000007506; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:8511031675430521675430523:g.167543052G>AClinGen:CA118621,OMIM:602445.0005C1858680 604218 Encephalopathy, familial, with neuroserpin inclusion bodies;
NM_001122752.2(SERPINI1):c.1174G>C (p.Gly392Arg)5274SERPINI1Pathogenic121909054RCV002250343; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:851103167543052167543052167543052-
NM_001122752.2(SERPINI1):c.1175G>A (p.Gly392Glu)5274SERPINI1Pathogenic/Likely pathogenic121909053RCV000007505|RCV001813962; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:85110|Human Phenotype Ontology:HP:0000707,Human Phenotype Ontology:HP:0001333,Human Phenotype Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C049755231675430531675430533:g.167543053G>AClinGen:CA118619,OMIM:602445.0004C1858680 604218 Encephalopathy, familial, with neuroserpin inclusion bodies;
NM_001122752.2(SERPINI1):c.1176A>T (p.Gly392=)5274SERPINI1Likely benign775874977RCV001461355; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:8511031675430541675430543:g.167543054A>T-
NM_001122752.2(SERPINI1):c.1176A>C (p.Gly392=)5274SERPINI1Likely benign-1RCV003058905; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:851103167543054167543054-
NM_001122752.2(SERPINI1):c.1183A>G (p.Met395Val)5274SERPINI1Benign/Likely benign144637103RCV000269095; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:851103167543061167543061NC_000003.11:g.167543061A>GClinGen:CA2695014C1858680 604218 Encephalopathy, familial, with neuroserpin inclusion bodies;
NM_001122752.2(SERPINI1):c.1183A>C (p.Met395Leu)5274SERPINI1Uncertain significance-1RCV002720114; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:851103167543061167543061NC_000003.11:g.167543061A>C-
NM_001122752.2(SERPINI1):c.1184T>C (p.Met395Thr)5274SERPINI1Uncertain significance761969364RCV001346535; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:851103167543062167543062167543062-
NM_001122752.2(SERPINI1):c.1186C>T (p.His396Tyr)5274SERPINI1Uncertain significance750646140RCV000687197; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:851103167543064167543064NC_000003.11:g.167543064C>T-C1858680 604218 Encephalopathy, familial, with neuroserpin inclusion bodies;
NM_001122752.2(SERPINI1):c.1201A>C (p.Asn401His)5274SERPINI1Uncertain significance780903060RCV001923181; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:851103167543079167543079167543079-
NM_001122752.2(SERPINI1):c.1202A>G (p.Asn401Ser)5274SERPINI1Uncertain significance2108576523RCV001996543; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:851103167543080167543080167543080-
NM_001122752.2(SERPINI1):c.1221C>A (p.Phe407Leu)5274SERPINI1Uncertain significance149238028RCV000642682; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:851103167543099167543099NC_000003.11:g.167543099C>AClinGen:CA87839422C1858680 604218 Encephalopathy, familial, with neuroserpin inclusion bodies;
NM_001122752.2(SERPINI1):c.1221C>T (p.Phe407=)5274SERPINI1Likely benign149238028RCV002119889; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:851103167543099167543099167543099-
NM_001122752.2(SERPINI1):c.1222G>A (p.Glu408Lys)5274SERPINI1Uncertain significance756112704RCV001223652; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:8511031675431001675431003:g.167543100G>A-
NM_001122752.2(SERPINI1):c.1225G>C (p.Glu409Gln)5274SERPINI1Uncertain significance777674608RCV002008306; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:851103167543103167543103167543103-
NM_001122752.2(SERPINI1):c.1231dup (p.Ter411LeuextTer?)5274SERPINI1Uncertain significance2108576541RCV001934560; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:851103167543106167543107167543106-
NM_001122752.2(SERPINI1):c.*87A>G5274SERPINI1Uncertain significance1712486520RCV001146820; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:8511031675431981675431983:g.167543198A>G-
NM_001122752.2(SERPINI1):c.*172T>A5274SERPINI1Uncertain significance886058170RCV000326610; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:851103167543283167543283NC_000003.11:g.167543283T>AClinGen:CA10615790C1858680 604218 Encephalopathy, familial, with neuroserpin inclusion bodies;
NM_001122752.2(SERPINI1):c.*197T>C5274SERPINI1Uncertain significance532826558RCV000360309; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:851103167543308167543308NC_000003.11:g.167543308T>CClinGen:CA10617701C1858680 604218 Encephalopathy, familial, with neuroserpin inclusion bodies;
NM_005025.4(SERPINI1):c.*256dupT5274SERPINI1Likely benign547381979RCV000368652; NMONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218, Orphanet:8511031675433671675433673:g.167543366_167543367insTClinGen:CA10654659C1858680 604218 Encephalopathy, familial, with neuroserpin inclusion bodies;
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