MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
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Blepharospasm (D001764)
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Parkinson Disease, Secondary (D010302)
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Pallidopyramidal syndrome (C538104)

       Child Nodes:



 Sister Nodes: 
..expandCharcot-Marie-Tooth disease with ptosis and parkinsonism (C538079)
..expandMPTP Poisoning (D020267)
..expandPallidopyramidal syndrome (C538104)
..expandParkinson Disease, Postencephalitic (D010301)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:9403
Name:Pallidopyramidal syndrome
Definition:
Alternative IDs:OMIM:260300
ParentIDs:MESH:D001764|MESH:D010302
TreeNumbers:C10.228.140.079.862.800/C538104 |C10.228.662.600.700/C538104 |C11.338.250/C538104
Synonyms:Pallido-pyramidal disease |Pallido-Pyramidal Syndrome |PALLIDOPYRAMIDAL SYNDROME |PARK15 |Parkinson Disease 15, Autosomal Recessive |PARKINSON DISEASE 15, AUTOSOMAL RECESSIVE EARLY-ONSET |Parkinsonian-Pyramidal Syndrome |PKPS
Slim Mappings:Eye disease|Nervous system disease
Reference: MedGen: C538104
MeSH: C538104
OMIM: 260300;
MSeqDR LSDB:  
Genes: FBXO7;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0011462Young adult onset
3 HP:0002071Abnormality of extrapyramidal motor function
4 HP:0003487Babinski sign
5 HP:0002067Bradykinesia
6 HP:0001260Dysarthria
NAMDC:  Dysarthria
7 HP:0001332Dystonia
NAMDC:  Dystonia
8 HP:0001347Hyperreflexia
NAMDC:  Hyperreactive reflexes (incl. Babinski sign, Hoffman sign)
9 HP:0000338Hypomimic face
10 HP:0002061Lower limb spasticity
11 HP:0002548Parkinsonism with favorable response to dopaminergic medication
12 HP:0002172Postural instability
13 HP:0002063Rigidity
14 HP:0012407Scissor gait
15 HP:0003677Slow progression
16 HP:0000514Slow saccadic eye movements
17 HP:0001762Talipes equinovarus
18 HP:0001337Tremor
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_012179.4(FBXO7):c.-184C>T25793FBXO7Benignrs11538371RCV000274674|RCV001653654; NMONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:171695|MedGen:CN517202223287080632870806NC_000022.10:g.32870806C>TClinGen:CA10651144CN239372 Parkinson Disease, Recessive;
NM_012179.4(FBXO7):c.-168A>G25793FBXO7Uncertain significancers886057417RCV000329836; NMONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:171695223287082232870822NC_000022.10:g.32870822A>GClinGen:CA10653379CN239372 Parkinson Disease, Recessive;
NM_012179.4(FBXO7):c.-130C>T25793FBXO7Uncertain significancers1399012413RCV001146687; NMONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:17169522328708603287086022:g.32870860C>T-
NM_012179.4(FBXO7):c.-118T>G25793FBXO7Uncertain significancers886057418RCV000375116; NMONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:171695223287087232870872NC_000022.10:g.32870872T>GClinGen:CA10654048CN239372 Parkinson Disease, Recessive;
NM_012179.4(FBXO7):c.-97C>T25793FBXO7Uncertain significancers531209490RCV001146688; NMONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:17169522328708933287089322:g.32870893C>T-
NM_012179.4(FBXO7):c.-93G>A25793FBXO7Uncertain significancers886057419RCV000280639; NMONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:171695223287089732870897NC_000022.10:g.32870897G>AClinGen:CA10645363CN239372 Parkinson Disease, Recessive;
NC_000022.10:g.(?_32870990)_(32875282_?)dup25793FBXO7Uncertain significance-1RCV001939145; NMONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:171695223287099032875282-1-
NM_012179.4(FBXO7):c.32C>T (p.Thr11Ile)25793FBXO7Uncertain significancers1233525301RCV001203007; NMONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:17169522328710213287102122:g.32871021C>T-
NM_012179.4(FBXO7):c.49C>G (p.Pro17Ala)25793FBXO7Uncertain significancers886057420RCV000317019; NMONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:171695223287103832871038NC_000022.10:g.32871038C>GClinGen:CA10651146CN239372 Parkinson Disease, Recessive;
NM_012179.4(FBXO7):c.65C>T (p.Thr22Met)25793FBXO7Pathogenicrs121918305RCV000005080; NMONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:171695223287105432871054NC_000022.10:g.32871054C>TClinGen:CA253301,OMIM:605648.0004C1850100 260300 Parkinson disease 15;
NM_012179.4(FBXO7):c.110C>G (p.Thr37Ser)25793FBXO7Likely benign-1RCV002191504; NMONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:17169522328710993287109932871099-
NM_012179.4(FBXO7):c.114G>C (p.Trp38Cys)25793FBXO7Uncertain significance-1RCV001974108; NMONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:17169522328711033287110332871103-
NM_012179.4(FBXO7):c.122+9G>A25793FBXO7Conflicting interpretations of pathogenicityrs192327462RCV000531417|RCV000592300; NMONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:171695|MedGen:CN169374223287112032871120NC_000022.10:g.32871120G>AClinGen:CA10201304CN169374 not specified;
NM_012179.4(FBXO7):c.122+272T>G25793FBXO7Benignrs8137714RCV000609047|RCV001683608; NMONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:171695|MedGen:CN517202223287138332871383NC_000022.10:g.32871383T>GClinGen:CA10201339C1850100 260300 Parkinson disease 15;
NM_012179.4(FBXO7):c.123-10T>G25793FBXO7Likely benign-1RCV001482804; NMONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:17169522328749583287495832874958-
NM_012179.4(FBXO7):c.152del (p.Asn51fs)25793FBXO7Pathogenicrs1228608709RCV000578350; NMONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:17169522328749963287499622:g.32874996_32874996delClinGen:CA639391308C1850100 260300 Parkinson disease 15;
NM_012179.4(FBXO7):c.155A>G (p.Tyr52Cys)25793FBXO7Likely benignrs550610502RCV001147592|RCV002225799; NMONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:171695|MedGen:CN51720222328750003287500022:g.32875000A>G-
NM_012179.4(FBXO7):c.169A>G (p.Thr57Ala)25793FBXO7Uncertain significancers760306475RCV000793300; NMONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:17169522328750143287501422:g.32875014A>G-
NM_012179.4(FBXO7):c.213G>A (p.Gly71=)25793FBXO7Likely benignrs149180516RCV000874001|RCV002064750; NMedGen:CN517202|MONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:17169522328750583287505822:g.32875058G>A-
NM_012179.4(FBXO7):c.260T>C (p.Ile87Thr)25793FBXO7Uncertain significancers780055842RCV000490301; NMONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:171695223287510532875105NC_000022.10:g.32875105T>CClinGen:CA10201378C1850100 260300 Parkinson disease 15;
NM_012179.4(FBXO7):c.274G>C (p.Asp92His)25793FBXO7Uncertain significancers139135860RCV000286438|RCV001532462; NMONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:171695|MedGen:CN517202223287511932875119NC_000022.10:g.32875119G>CClinVar:433544,ClinGen:CA10201381CN239372 Parkinson Disease, Recessive;
NM_012179.4(FBXO7):c.277T>G (p.Ser93Ala)25793FBXO7Conflicting interpretations of pathogenicityrs143041875RCV001147593; NMONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:17169522328751223287512222:g.32875122T>G-
NM_012179.4(FBXO7):c.284A>T (p.His95Leu)25793FBXO7Uncertain significance-1RCV001979226; NMONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:17169522328751293287512932875129-
NM_012179.4(FBXO7):c.291A>C (p.Ser97=)25793FBXO7Likely benignrs369892815RCV000876050|RCV001495702; NMedGen:CN517202|MONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:17169522328751363287513622:g.32875136A>C-
NM_012179.4(FBXO7):c.303T>C (p.Asn101=)25793FBXO7Likely benignrs373293691RCV000950510|RCV002066262; NMedGen:CN517202|MONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:17169522328751483287514822:g.32875148T>C-
NM_012179.4(FBXO7):c.306G>A (p.Glu102=)25793FBXO7Likely benign-1RCV002170880; NMONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:17169522328751513287515132875151-
NM_012179.4(FBXO7):c.319G>A (p.Ala107Thr)25793FBXO7Likely benignrs138222812RCV000889125|RCV001422015; NMedGen:CN517202|MONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:17169522328751643287516422:g.32875164G>A-
NM_012179.4(FBXO7):c.345G>A (p.Met115Ile)25793FBXO7Benignrs11107RCV000175837|RCV000616422|RCV001610488; NMedGen:CN169374|MONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:171695|MedGen:CN51720222328751903287519022:g.32875190G>AClinGen:CA201655,UniProtKB:Q9Y3I1#VAR_021408CN169374 not specified;
NM_012179.4(FBXO7):c.358C>T (p.Pro120Ser)25793FBXO7Uncertain significancers191469599RCV000393330; NMONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:171695223287520332875203NC_000022.10:g.32875203C>TClinGen:CA10201401CN239372 Parkinson Disease, Recessive;
NM_012179.4(FBXO7):c.364G>A (p.Asp122Asn)25793FBXO7Uncertain significance-1RCV001881867; NMONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:17169522328752093287520932875209-
NM_012179.4(FBXO7):c.367T>G (p.Ser123Ala)25793FBXO7Uncertain significancers2057448381RCV001147594; NMONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:17169522328752123287521222:g.32875212T>G-
NM_012179.4(FBXO7):c.418-7T>C25793FBXO7Likely benign-1RCV001457798; NMONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:17169522328798773287987732879877-
NM_012179.4(FBXO7):c.430C>G (p.Gln144Glu)25793FBXO7Uncertain significance-1RCV002010321; NMONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:17169522328798963287989632879896-
NM_012179.4(FBXO7):c.447G>A (p.Glu149=)25793FBXO7Uncertain significancers1012166328RCV001147595; NMONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:17169522328799133287991322:g.32879913G>A-
NM_012179.4(FBXO7):c.464C>A (p.Ala155Glu)25793FBXO7Uncertain significancers61730784RCV001225456; NMONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:17169522328799303287993022:g.32879930C>A-
NM_012179.4(FBXO7):c.465G>A (p.Ala155=)25793FBXO7Likely benignrs765523844RCV000925403|RCV002502817; NMedGen:CN517202|MONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:17169522328799313287993122:g.32879931G>A-
NM_012179.4(FBXO7):c.521C>T (p.Ser174Leu)25793FBXO7Uncertain significance-1RCV001956029; NMONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:17169522328799873287998732879987-
NM_012179.4(FBXO7):c.540A>G (p.Pro180=)25793FBXO7Benign/Likely benignrs41311141RCV000546312|RCV001672610; NMONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:171695|MedGen:CN517202223288000632880006NC_000022.10:g.32880006A>GClinGen:CA10201452C1850100 260300 Parkinson disease 15;
NM_012179.4(FBXO7):c.571G>C (p.Asp191His)25793FBXO7Uncertain significance-1RCV001932011; NMONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:17169522328800373288003732880037-
NM_012179.4(FBXO7):c.593C>G (p.Ala198Gly)25793FBXO7Uncertain significancers2057482701RCV001235832; NMONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:17169522328800593288005922:g.32880059C>G-
NM_012179.4(FBXO7):c.601G>A (p.Val201Met)25793FBXO7Likely benignrs61730783RCV000641220|RCV001546047; NMONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:171695|MedGen:CN51720222328800673288006722:g.32880067G>AClinGen:CA10201463C1850100 260300 Parkinson disease 15;
NM_012179.4(FBXO7):c.646-10C>T25793FBXO7Likely benign-1RCV001452468; NMONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:17169522328810453288104532881045-
NM_012179.4(FBXO7):c.661G>C (p.Ala221Pro)25793FBXO7Uncertain significance-1RCV001955758; NMONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:17169522328810703288107032881070-
NM_012179.4(FBXO7):c.674C>T (p.Pro225Leu)25793FBXO7Uncertain significance-1RCV001733646; NMONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:17169522328810833288108332881083-
NM_012179.4(FBXO7):c.674C>G (p.Pro225Arg)25793FBXO7Uncertain significance-1RCV002050727; NMONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:17169522328810833288108332881083-
NM_012179.4(FBXO7):c.693C>T (p.Ser231=)25793FBXO7Conflicting interpretations of pathogenicityrs61752254RCV000552061|RCV000591434|RCV001310799; NMONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:171695|MedGen:CN169374|MedGen:CN517202223288110232881102NC_000022.10:g.32881102C>TClinGen:CA10201498CN169374 not specified;
NM_012179.4(FBXO7):c.697G>A (p.Val233Met)25793FBXO7Uncertain significancers1388222868RCV000802923; NMONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:17169522328811063288110622:g.32881106G>A-
NM_012179.4(FBXO7):c.726_727del (p.Cys243fs)25793FBXO7Conflicting interpretations of pathogenicityrs1290655316RCV000778655|RCV002223936; NMONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:171695|MedGen:CN517202223288113132881132NC_000022.10:g.32881131CT[2]-
NM_012179.4(FBXO7):c.745A>G (p.Thr249Ala)25793FBXO7Uncertain significancers749742547RCV000307882; NMONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:171695223288115432881154NC_000022.10:g.32881154A>GClinGen:CA10201512CN239372 Parkinson Disease, Recessive;
NM_012179.4(FBXO7):c.803A>G (p.Asn268Ser)25793FBXO7Uncertain significance-1RCV001754284|RCV002032754; NMedGen:CN517202|MONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:17169522328837473288374732883747-
NM_012179.4(FBXO7):c.839T>C (p.Leu280Pro)25793FBXO7Uncertain significancers776439796RCV000519913|RCV001858020; NMedGen:CN517202|MONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:17169522328837833288378322:g.32883783T>CClinGen:CA10201543CN169374 not specified;
NM_012179.4(FBXO7):c.871+15_871+17del25793FBXO7Likely benign-1RCV002212407; NMONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:17169522328838273288382932883826-
NM_012179.4(FBXO7):c.899A>T (p.Asp300Val)25793FBXO7Uncertain significance-1RCV002015727; NMONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:17169522328871003288710032887100-
NM_012179.4(FBXO7):c.917G>A (p.Arg306His)25793FBXO7Uncertain significance-1RCV002005972; NMONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:17169522328871183288711832887118-
NM_012179.4(FBXO7):c.949C>T (p.Leu317=)25793FBXO7Benignrs9726RCV000611094|RCV001672611; NMONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:171695|MedGen:CN517202223288715032887150NC_000022.10:g.32887150C>TClinGen:CA10201583C1850100 260300 Parkinson disease 15;
NM_012179.4(FBXO7):c.957T>C (p.Phe319=)25793FBXO7Uncertain significancers2057532824RCV001150918; NMONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:17169522328871583288715822:g.32887158T>C-
NM_012179.4(FBXO7):c.968-14T>G25793FBXO7Benignrs77327421RCV001150919|RCV001655685; NMONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:171695|MedGen:CN51720222328890783288907822:g.32889078T>G-
NM_012179.4(FBXO7):c.993G>T (p.Gly331=)25793FBXO7Likely benign-1RCV001463195; NMONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:17169522328891173288911732889117-
NM_012179.4(FBXO7):c.999C>T (p.Val333=)25793FBXO7Likely benignrs1191841298RCV000932560|RCV001398914; NMedGen:CN517202|MONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:17169522328891233288912322:g.32889123C>T-
NM_012179.4(FBXO7):c.1054G>A (p.Val352Ile)25793FBXO7Uncertain significancers762037477RCV000400945; NMONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:171695223288917832889178NC_000022.10:g.32889178G>AClinGen:CA10201635CN239372 Parkinson Disease, Recessive;
NM_012179.4(FBXO7):c.1070C>T (p.Ala357Val)25793FBXO7Uncertain significancers141068487RCV000808574; NMONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:17169522328891943288919422:g.32889194C>T-
NM_012179.4(FBXO7):c.1086C>T (p.Leu362=)25793FBXO7Likely benign-1RCV001401961; NMONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:17169522328892103288921032889210-
NM_012179.4(FBXO7):c.1089T>C (p.Phe363=)25793FBXO7Likely benignrs1250777790RCV000941449|RCV001471578; NMedGen:CN517202|MONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:17169522328892133288921322:g.32889213T>C-
NM_012179.4(FBXO7):c.1100A>G (p.Asn367Ser)25793FBXO7Uncertain significance-1RCV002034282; NMONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:17169522328892243288922432889224-
NM_012179.4(FBXO7):c.1125A>G (p.Leu375=)25793FBXO7Benign/Likely benignrs147911892RCV000873830|RCV002259337; NMONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:171695|MedGen:CN51720222328892493288924922:g.32889249A>GClinGen:CA10201649CN239372 Parkinson Disease, Recessive;
NM_012179.4(FBXO7):c.1132C>G (p.Arg378Gly)25793FBXO7Pathogenicrs71799110RCV000005077; NMONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:17169522328892563288925622:g.32889256C>GClinGen:CA253297,UniProtKB:Q9Y3I1#VAR_047938,OMIM:605648.0001C1850100 260300 Parkinson disease 15;
NM_012179.4(FBXO7):c.1144+1G>T25793FBXO7Pathogenicrs730880272RCV000005079; NMONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:17169522328892693288926922:g.32889269G>TClinGen:CA253300,OMIM:605648.0003C1850100 260300 Parkinson disease 15;
NM_012179.4(FBXO7):c.1144+9C>T25793FBXO7Conflicting interpretations of pathogenicityrs199954341RCV000641221|RCV001579859; NMONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:171695|MedGen:CN51720222328892773288927722:g.32889277C>TClinGen:CA10201654C1850100 260300 Parkinson disease 15;
NM_012179.4(FBXO7):c.1145-8C>T25793FBXO7Likely benign-1RCV001473873; NMONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:17169522328914723289147232891472-
NM_012179.4(FBXO7):c.1181_1182+1del25793FBXO7Uncertain significancers2057568606RCV001247770; NMONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:17169522328915133289151522:g.32891513_32891515del-
NM_012179.4(FBXO7):c.1182+18T>G25793FBXO7Likely benign-1RCV002112065; NMONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:17169522328915353289153532891535-
NM_012179.4(FBXO7):c.1183-15T>G25793FBXO7Likely benign-1RCV002081893; NMONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:17169522328941163289411632894116-
NM_012179.4(FBXO7):c.1183-4del25793FBXO7Likely benignrs1399849415RCV000875498|RCV001474113; NMedGen:CN517202|MONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:17169522328941273289412722:g.32894127_32894127del-
NM_012179.4(FBXO7):c.1198C>A (p.His400Asn)25793FBXO7Uncertain significancers2057587664RCV001066527; NMONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:17169522328941463289414622:g.32894146C>A-
NM_012179.4(FBXO7):c.1206_1207dup (p.Arg403fs)25793FBXO7Pathogenic/Likely pathogenicrs749019340RCV000795355|RCV002223941; NMONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:171695|MedGen:CN51720222328941523289415322:g.32894152_32894153insAA-
NM_012179.4(FBXO7):c.1213G>T (p.Glu405Ter)25793FBXO7Pathogenic-1RCV001950804; NMONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:17169522328941613289416132894161-
NM_012179.4(FBXO7):c.1221G>A (p.Pro407=)25793FBXO7Likely benignrs201127594RCV000956347|RCV001483333; NMedGen:CN517202|MONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:17169522328941693289416922:g.32894169G>A-
NM_012179.4(FBXO7):c.1268_1272dup (p.Tyr425fs)25793FBXO7Conflicting interpretations of pathogenicityrs749534144RCV000778656|RCV001585706; NMONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:171695|MedGen:CN517202223289420932894210NC_000022.10:g.32894211CATTC[3]-
NM_012179.4(FBXO7):c.1264A>T (p.Ile422Phe)25793FBXO7Uncertain significancers1555884880RCV001246833; NMONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:17169522328942123289421222:g.32894212A>T-
NM_012179.4(FBXO7):c.1266T>G (p.Ile422Met)25793FBXO7Uncertain significancers2057588908RCV001144821; NMONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:17169522328942143289421422:g.32894214T>G-
NM_012179.4(FBXO7):c.1271_1272delinsAT (p.Phe424Tyr)25793FBXO7Benignrs1601520476RCV000874043; NMONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:171695223289421932894220NC_000022.10:g.32894219_32894220delinsAT-
NM_012179.4(FBXO7):c.1312C>T (p.Arg438Cys)25793FBXO7Uncertain significance-1RCV001540091|RCV002032519; NMedGen:CN517202|MONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:17169522328942603289426032894260-
NM_012179.4(FBXO7):c.1332C>G (p.Ile444Met)25793FBXO7Uncertain significancers755248108RCV001144822; NMONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:17169522328942803289428022:g.32894280C>G-
NM_012179.4(FBXO7):c.1345_1347delinsTAA (p.Asp449Ter)25793FBXO7Likely pathogenic-1RCV002226951; NMONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:17169522328942933289429532894293-
NM_012179.4(FBXO7):c.1385G>T (p.Ser462Ile)25793FBXO7Uncertain significancers149552421RCV000812038|RCV001766700; NMONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:171695|MedGen:CN51720222328943333289433322:g.32894333G>T-
NM_012179.4(FBXO7):c.1386T>G (p.Ser462Arg)25793FBXO7Uncertain significance-1RCV002045332; NMONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:17169522328943343289433432894334-
NM_012179.4(FBXO7):c.1388C>T (p.Ser463Leu)25793FBXO7Uncertain significance-1RCV001960140; NMONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:17169522328943363289433632894336-
NM_012179.4(FBXO7):c.1441C>T (p.Arg481Cys)25793FBXO7Likely benignrs148272407RCV000945785; NMONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:17169522328943893289438922:g.32894389C>T-
NM_012179.4(FBXO7):c.1453G>A (p.Val485Ile)25793FBXO7Uncertain significancers141286570RCV000734164|RCV001049233; NMedGen:CN517202|MONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:171695223289440132894401NC_000022.10:g.32894401G>A-
NM_012179.4(FBXO7):c.1453G>C (p.Val485Leu)25793FBXO7Uncertain significance-1RCV001929146; NMONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:17169522328944013289440132894401-
NM_012179.4(FBXO7):c.1490G>C (p.Gly497Ala)25793FBXO7Uncertain significance-1RCV002003088; NMONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:17169522328944383289443832894438-
NM_012179.4(FBXO7):c.1492C>T (p.Arg498Ter)25793FBXO7Pathogenicrs121918304RCV000005078|RCV002281696; NMONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:171695|MedGen:CN51720222328944403289444022:g.32894440C>TClinGen:CA253298,OMIM:605648.0002C1850100 260300 Parkinson disease 15;
NM_012179.4(FBXO7):c.1495G>A (p.Gly499Ser)25793FBXO7Likely benign-1RCV001495246|RCV002225839; NMONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:171695|MedGen:CN51720222328944433289444332894443-
NM_012179.4(FBXO7):c.1497C>T (p.Gly499=)25793FBXO7Uncertain significancers373124830RCV001236791; NMONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:17169522328944453289444522:g.32894445C>T-
NM_012179.4(FBXO7):c.1505A>G (p.Asn502Ser)25793FBXO7Uncertain significancers144538200RCV000263188|RCV001573646; NMONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:171695|MedGen:CN51720222328944533289445322:g.32894453A>GClinGen:CA10201762CN239372 Parkinson Disease, Recessive;
NM_012179.4(FBXO7):c.1506T>C (p.Asn502=)25793FBXO7Conflicting interpretations of pathogenicityrs765344006RCV001144823; NMONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:17169522328944543289445422:g.32894454T>C-
NM_012179.4(FBXO7):c.1527C>A (p.Pro509=)25793FBXO7Uncertain significancers758609287RCV000318405; NMONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:17169522328944753289447522:g.32894475C>AClinGen:CA10201765CN239372 Parkinson Disease, Recessive;
NM_012179.4(FBXO7):c.1536_1539del (p.Arg513fs)25793FBXO7Uncertain significancers772175765RCV000793915|RCV002466584; NMONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:171695|MedGen:CN51720222328944823289448522:g.32894482_32894485del-
NM_012179.4(FBXO7):c.1535G>A (p.Gly512Asp)25793FBXO7Conflicting interpretations of pathogenicityrs142471722RCV000876905|RCV001144824; NMedGen:CN517202|MONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:17169522328944833289448322:g.32894483G>A-
NM_012179.4(FBXO7):c.1541del (p.Pro514fs)25793FBXO7Uncertain significance-1RCV001975270; NMONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:17169522328944883289448832894487-
NM_012179.4(FBXO7):c.1546G>C (p.Asp516His)25793FBXO7Conflicting interpretations of pathogenicityrs34316445RCV000513395|RCV000615906; NMedGen:CN517202|MONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:17169522328944943289449422:g.32894494G>CClinGen:CA10201774CN517202 not provided;
NM_012179.4(FBXO7):c.1546G>T (p.Asp516Tyr)25793FBXO7Uncertain significancers34316445RCV001340077; NMONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:17169522328944943289449432894494-
NM_012179.4(FBXO7):c.1552C>T (p.Arg518Trp)25793FBXO7Uncertain significancers374363283RCV001146784; NMONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:17169522328945003289450022:g.32894500C>T-
NM_012179.4(FBXO7):c.1553G>A (p.Arg518Gln)25793FBXO7Uncertain significance-1RCV001931832; NMONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:17169522328945013289450132894501-
NM_012179.4(FBXO7):c.*47A>T25793FBXO7Uncertain significancers367714958RCV000354444; NMONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:17169522328945643289456422:g.32894564A>TClinGen:CA10201790CN239372 Parkinson Disease, Recessive;
NM_012179.4(FBXO7):c.*82G>A25793FBXO7Uncertain significancers147661976RCV001146785; NMONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:17169522328945993289459922:g.32894599G>A-
NM_012179.4(FBXO7):c.*104T>C25793FBXO7Uncertain significancers1601521158RCV001146786; NMONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:17169522328946213289462122:g.32894621T>C-
NM_012179.4(FBXO7):c.*170C>G25793FBXO7Uncertain significancers186797068RCV000259495; NMONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:17169522328946873289468722:g.32894687C>GClinGen:CA10654054CN239372 Parkinson Disease, Recessive;
NM_012179.4(FBXO7):c.*198T>G25793FBXO7Uncertain significancers951733600RCV001146787; NMONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:17169522328947153289471522:g.32894715T>G-
NM_012179.4(FBXO7):c.*263A>G25793FBXO7Uncertain significancers886057422RCV000324196; NMONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:17169522328947803289478022:g.32894780A>GClinGen:CA10653385CN239372 Parkinson Disease, Recessive;
NM_012179.4(FBXO7):c.*282A>T25793FBXO7Uncertain significancers886057423RCV000378716; NMONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:17169522328947993289479922:g.32894799A>TClinGen:CA10654055CN239372 Parkinson Disease, Recessive;
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