MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
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Disease Browser
Parent Node:
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Peroxisomal Disorders (D018901)
..Starting node
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PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER) (OMIM:214110)

       Child Nodes:



 Sister Nodes: 
..expandAcatalasia (D020642)
..expandAdrenoleukodystrophy (D000326) Child4
..expandBile acid synthesis defect, congenital, 4 (C535444)
..expandChondrodysplasia Punctata, Rhizomelic (D018902) Child3
..expandMevalonate Kinase Deficiency (D054078)
..expandPEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER) (OMIM:614882)
..expandPEROXISOME BIOGENESIS DISORDER 10B (OMIM:617370)
..expandPEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER) (OMIM:614883)
..expandPEROXISOME BIOGENESIS DISORDER 11B (OMIM:614885)
..expandPEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER) (OMIM:614886)
..expandPEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER) (OMIM:614887)
..expandPEROXISOME BIOGENESIS DISORDER 14B (OMIM:614920)
..expandPEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER) (OMIM:214110)
..expandPEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER) (OMIM:614859)
..expandPEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER) (OMIM:614862)
..expandPEROXISOME BIOGENESIS DISORDER 4B (OMIM:614863)
..expandPEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) (OMIM:614866)
..expandPEROXISOME BIOGENESIS DISORDER 5B (OMIM:614867)
..expandPEROXISOME BIOGENESIS DISORDER 6A (ZELLWEGER) (OMIM:614870)
..expandPEROXISOME BIOGENESIS DISORDER 6B (OMIM:614871)
..expandPEROXISOME BIOGENESIS DISORDER 7A (ZELLWEGER) (OMIM:614872)
..expandPEROXISOME BIOGENESIS DISORDER 7B (OMIM:614873)
..expandPEROXISOME BIOGENESIS DISORDER 8A (ZELLWEGER) (OMIM:614876)
..expandPEROXISOME BIOGENESIS DISORDER 8B (OMIM:614877)
..expandPEROXISOME BIOGENESIS DISORDER 9B (OMIM:614879)
..expandPeroxisome Biogenesis Disorder, Complementation Group 1 (C566568)
..expandPeroxisome Biogenesis Disorder, Complementation Group 11 (C566634)
..expandPeroxisome Biogenesis Disorder, Complementation Group 12 (C566405)
..expandPeroxisome Biogenesis Disorder, Complementation Group 13 (C566625)
..expandPeroxisome Biogenesis Disorder, Complementation Group 14 (C563964)
..expandPeroxisome Biogenesis Disorder, Complementation Group 3 (C566633)
..expandPeroxisome Biogenesis Disorder, Complementation Group 4 (C563301)
..expandPeroxisome Biogenesis Disorder, Complementation Group 7 (C566422)
..expandPeroxisome Biogenesis Disorder, Complementation Group 9 (C566387)
..expandPeroxisome Biogenesis Disorder, Complementation Group D (C566388)
..expandPeroxisome Biogenesis Disorder, Complementation Group E (C566569)
..expandPeroxisome Biogenesis Disorder, Complementation Group G (C566406)
..expandPeroxisome Biogenesis Disorder, Complementation Group H (C566626)
..expandPeroxisome Biogenesis Disorder, Complementation Group J (C563965)
..expandPeroxisome Biogenesis Disorder, Complementation Group K (C566624)
..expandPeroxisome Biogenesis Disorder, Complementation Group R (C566635)
..expandPeroxisome biogenesis disorders (C536664)
..expandRefsum Disease (D012035) Child4
..expandRefsum Disease, Infantile (D052919)
..expandZellweger Syndrome (D015211) Child3
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:9743
Name:PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER)
Definition:
Alternative IDs:
ParentIDs:MESH:D018901
TreeNumbers:C16.320.565.663/214110 |C18.452.648.663/214110
Synonyms:CG2, INCLUDED |PBD2A |PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP 2, INCLUDED
Slim Mappings:Genetic disease (inborn)|Metabolic disease
Reference: MedGen: 214110
MeSH: 214110
OMIM: 214110;
MSeqDR LSDB:  
Genes: CA4; PEX5;
Phenotypes
1 HP:0001627Abnormal heart morphology
2 HP:0030680Abnormality of cardiovascular system morphology
3 HP:0011039Abnormality of the helix
4 HP:0012103Abnormality of the mitochondrion
5 HP:0003355Aminoaciduria
6 HP:0002104Apnea
7 HP:0001284Areflexia
8 HP:0001088Brushfield spots
9 HP:0012385Camptodactyly
10 HP:0000518Cataract
NAMDC:  Cataracts
11 HP:0000175Cleft palate
12 HP:0008665Clitoral hypertrophy
13 HP:0000028Cryptorchidism
14 HP:0002967Cubitus valgus
15 HP:0003819Death in childhood
16 HP:0000268Dolichocephaly
17 HP:0003455Elevated long chain fatty acids
18 HP:0000286Epicanthus
19 HP:0001508Failure to thrive
20 HP:0001290Generalized hypotonia
21 HP:0002240Hepatomegaly
22 HP:0000348High forehead
23 HP:0000316Hypertelorism
24 HP:0000778Hypoplasia of the thymus
25 HP:0001249Intellectual disability
26 HP:0001401Intrahepatic biliary dysgenesis
27 HP:0001511Intrauterine growth retardation
28 HP:0000952Jaundice
29 HP:0009473Joint contracture of the hand
30 HP:0000239Large fontanelles
31 HP:0001840Metatarsus adductus
32 HP:0001252Muscular hypotonia
NAMDC:  Hypotonia
33 HP:0007759Opacification of the corneal stroma
34 HP:0001093Optic nerve dysplasia
35 HP:0100540Palpebral edema
36 HP:0000580Pigmentary retinopathy
NAMDC:  Pigmentary retinopathy
37 HP:0000113Polycystic kidney dysplasia
38 HP:0002033Poor suck
39 HP:0001250Seizures
NAMDC:  Seizures
40 HP:0000954Single transverse palmar crease
41 HP:0002764Stippled chondral calcification
42 HP:0001762Talipes equinovarus
43 HP:0000262Turricephaly
44 HP:0000582Upslanted palpebral fissure
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_001131025.1(PEX5):c.-535C>T5830PEX5Uncertain significancers886049821RCV000378752; NMONDO:MONDO:0008954,MedGen:C3550273,OMIM:214110, Orphanet:9121273422947342294CT12:g.7342294C>TClinGen:CA10633520
NM_001131025.1(PEX5):c.-521C>G5830PEX5Uncertain significancers886049822RCV000289025; NMONDO:MONDO:0008954,MedGen:C3550273,OMIM:214110, Orphanet:9121273423087342308CG12:g.7342308C>GClinGen:CA10638528
NM_001131025.1(PEX5):c.-519T>C5830PEX5Uncertain significancers770339670RCV000343955; NMONDO:MONDO:0008954,MedGen:C3550273,OMIM:214110, Orphanet:9121273423107342310TC12:g.7342310T>CClinGen:CA10643284
NM_001131025.1(PEX5):c.-515G>T5830PEX5Uncertain significancers886049823RCV000404753; NMONDO:MONDO:0008954,MedGen:C3550273,OMIM:214110, Orphanet:9121273423147342314GT12:g.7342314G>TClinGen:CA10633522
NM_001351132.2(PEX5):c.-49G>A5830PEX5Uncertain significance-1RCV001111332; NMONDO:MONDO:0008954,MedGen:C3550273,OMIM:214110, Orphanet:9121273423147342314GA12:g.7342314G>A-
NM_001131025.1(PEX5):c.-486C>G5830PEX5Benignrs12227917RCV000309329; NMONDO:MONDO:0008954,MedGen:C3550273,OMIM:214110, Orphanet:9121273423437342343CG12:g.7342343C>GClinGen:CA10633526
NM_001131025.1(PEX5):c.-443T>C5830PEX5Uncertain significancers796452917RCV000315249; NMONDO:MONDO:0008954,MedGen:C3550273,OMIM:214110, Orphanet:9121273423867342386TC12:g.7342386T>CClinGen:CA10643286
NM_001351132.2(PEX5):c.-17+65C>G5830PEX5Uncertain significance-1RCV001113338; NMONDO:MONDO:0008954,MedGen:C3550273,OMIM:214110, Orphanet:9121273424117342411CG12:g.7342411C>G-
NM_001351132.2(PEX5):c.-17+71G>A5830PEX5Uncertain significance-1RCV001113339; NMONDO:MONDO:0008954,MedGen:C3550273,OMIM:214110, Orphanet:9121273424177342417GA12:g.7342417G>A-
NM_001351132.2(PEX5):c.-17+102G>C5830PEX5Uncertain significance-1RCV001113340; NMONDO:MONDO:0008954,MedGen:C3550273,OMIM:214110, Orphanet:9121273424487342448GC12:g.7342448G>C-
NM_001131025.1(PEX5):c.-332G>A5830PEX5Likely benignrs146875386RCV000369906; NMONDO:MONDO:0008954,MedGen:C3550273,OMIM:214110, Orphanet:9121273424977342497GA12:g.7342497G>AClinGen:CA6425947
NM_001131025.1(PEX5):c.-298T>C5830PEX5Uncertain significancers779168691RCV000261119; NMONDO:MONDO:0008954,MedGen:C3550273,OMIM:214110, Orphanet:9121273425317342531TC12:g.7342531T>CClinGen:CA6425950
NM_001131025.1(PEX5):c.-295T>C5830PEX5Likely benignrs186539500RCV000297634; NMONDO:MONDO:0008954,MedGen:C3550273,OMIM:214110, Orphanet:9121273425347342534TC12:g.7342534T>CClinGen:CA6425951
NM_001131025.1(PEX5):c.-243G>A5830PEX5Uncertain significancers754651589RCV000357372; NMONDO:MONDO:0008954,MedGen:C3550273,OMIM:214110, Orphanet:9121273425867342586GA12:g.7342586G>AClinGen:CA6425954
NM_001351132.2(PEX5):c.-17+249C>T5830PEX5Uncertain significance-1RCV001114712; NMONDO:MONDO:0008954,MedGen:C3550273,OMIM:214110, Orphanet:9121273425957342595CT12:g.7342595C>T-
NM_001131025.1(PEX5):c.-210G>T5830PEX5Likely benignrs117442311RCV000262474; NMONDO:MONDO:0008954,MedGen:C3550273,OMIM:214110, Orphanet:9121273426197342619GT12:g.7342619G>TClinGen:CA6425957
NM_001131025.1(PEX5):c.-193T>A5830PEX5Benignrs113752912RCV000322404; NMONDO:MONDO:0008954,MedGen:C3550273,OMIM:214110, Orphanet:9121273426367342636TA12:g.7342636T>AClinGen:CA10633527
NM_001131025.1(PEX5):c.-145G>A5830PEX5Uncertain significancers542096066RCV000377000; NMONDO:MONDO:0008954,MedGen:C3550273,OMIM:214110, Orphanet:9121273426847342684GA12:g.7342684G>AClinGen:CA10642409
NM_001351132.2(PEX5):c.-16-149A>G5830PEX5Uncertain significance-1RCV001114713; NMONDO:MONDO:0008954,MedGen:C3550273,OMIM:214110, Orphanet:9121273428097342809AG12:g.7342809A>G-
NM_001351132.2(PEX5):c.48G>C (p.Pro16=)5830PEX5Uncertain significance-1RCV001114714; NMONDO:MONDO:0008954,MedGen:C3550273,OMIM:214110, Orphanet:9121273430217343021GC12:g.7343021G>C-
NM_001351132.2(PEX5):c.88C>T (p.Leu30Phe)5830PEX5Uncertain significance-1RCV001114715; NMONDO:MONDO:0008954,MedGen:C3550273,OMIM:214110, Orphanet:9121273430617343061CT12:g.7343061C>T-
NM_001131025.2(PEX5):c.230G>A5830PEX5Uncertain significancers780957318RCV000592787|RCV001241564|RCV001250064; NMedGen:CN517202|MedGen:C3550234,OMIM:202370, Orphanet:44|MONDO:MONDO:0008954,MedGen:C3550273,OMIM:214110, Orphanet:912; MedGen:C3550234,OMIM:202370, Orphanet:44; MONDO:MONDO:0014743,MedGen:C4225237,OMIM:616716, Orphanet:4687171273438687343868GA12:g.7343868G>AClinGen:CA6426068CN169374 not specified;
NM_001351132.2(PEX5):c.317-6T>C5830PEX5Uncertain significance-1RCV001114716; NMONDO:MONDO:0008954,MedGen:C3550273,OMIM:214110, Orphanet:9121273441597344159TC12:g.7344159T>C-
NM_001131025.1(PEX5):c.371C>G (p.Ala124Gly)5830PEX5Uncertain significancers143307183RCV000268519|RCV000388109|RCV001232078; NMONDO:MONDO:0008954,MedGen:C3550273,OMIM:214110, Orphanet:912|MedGen:CN517202|MedGen:C3550234,OMIM:202370, Orphanet:441273442197344219CG12:g.7344219C>GClinGen:CA6426121CN169374 not specified;
NM_001131025.1(PEX5):c.421T>G (p.Ser141Ala)5830PEX5Uncertain significancers200475014RCV000591377|RCV001109085; NMedGen:CN517202|MONDO:MONDO:0008954,MedGen:C3550273,OMIM:214110, Orphanet:9121273442697344269TG12:g.7344269T>GClinGen:CA6426128CN169374 not specified;
NM_001131025.1(PEX5):c.452C>G (p.Pro151Arg)5830PEX5Uncertain significancers200720523RCV000733223|RCV001196728|RCV001240870; NMedGen:CN517202|MONDO:MONDO:0008954,MedGen:C3550273,OMIM:214110, Orphanet:912|MedGen:C3550234,OMIM:202370, Orphanet:441273516107351610CG12:g.7351610C>G-
NM_001131025.1(PEX5):c.496C>G (p.Gln166Glu)5830PEX5Uncertain significancers751043763RCV000726787|RCV001067078|RCV001109086; NMedGen:CN517202|MedGen:C3550234,OMIM:202370, Orphanet:44|MONDO:MONDO:0008954,MedGen:C3550273,OMIM:214110, Orphanet:9121273516547351654CG12:g.7351654C>GClinGen:CA6426155CN169374 not specified;
NM_001131025.1(PEX5):c.498A>G (p.Gln166=)5830PEX5Uncertain significancers756714515RCV000323599; NMONDO:MONDO:0008954,MedGen:C3550273,OMIM:214110, Orphanet:9121273516567351656AG12:g.7351656A>GClinGen:CA6426156
NM_001131025.2(PEX5):c.533G>A5830PEX5Uncertain significancers749729761RCV000382945|RCV000731665|RCV001250048; NMONDO:MONDO:0008954,MedGen:C3550273,OMIM:214110, Orphanet:912|MedGen:CN517202|MedGen:C3550234,OMIM:202370, Orphanet:44; MONDO:MONDO:0008954,MedGen:C3550273,OMIM:214110, Orphanet:912; MONDO:MONDO:0014743,MedGen:C4225237,OMIM:616716, Orphanet:4687171273516917351691GA12:g.7351691G>AClinGen:CA6426161
NM_001131025.1(PEX5):c.552-7G>A5830PEX5Conflicting interpretations of pathogenicityrs189631769RCV000329555|RCV000729198|RCV001080298; NMONDO:MONDO:0008954,MedGen:C3550273,OMIM:214110, Orphanet:912|MedGen:CN517202|MedGen:C3550234,OMIM:202370, Orphanet:441273543407354340GA12:g.7354340G>AClinGen:CA6426194C0043459 214100 Zellweger syndrome;
NM_001131025.1(PEX5):c.590C>T (p.Thr197Met)5830PEX5Uncertain significancers144897942RCV000341835|RCV001109087|RCV001230551; NMedGen:CN517202|MONDO:MONDO:0008954,MedGen:C3550273,OMIM:214110, Orphanet:912|MedGen:C3550234,OMIM:202370, Orphanet:441273543857354385CT12:g.7354385C>TClinGen:CA6426198CN169374 not specified;
NM_001131023.1(PEX5):c.649G>C (p.Val217Leu)5830PEX5Conflicting interpretations of pathogenicityrs149102738RCV000262302|RCV000386382|RCV000676016|RCV001082425; NMedGen:CN169374|MONDO:MONDO:0008954,MedGen:C3550273,OMIM:214110, Orphanet:912|MedGen:CN517202|MedGen:C3550234,OMIM:202370, Orphanet:441273543997354399GC12:g.7354399G>CClinGen:CA6426202CN517202 not provided;
NM_001131025.1(PEX5):c.643-5C>T5830PEX5Uncertain significancers886049826RCV000294324; NMONDO:MONDO:0008954,MedGen:C3550273,OMIM:214110, Orphanet:9121273548327354832CT12:g.7354832C>TClinGen:CA10643304
NM_001351132.2(PEX5):c.708C>T (p.Gly236=)5830PEX5Uncertain significance-1RCV001111429; NMONDO:MONDO:0008954,MedGen:C3550273,OMIM:214110, Orphanet:9121273549027354902CT12:g.7354902C>T-
NM_001351132.2(PEX5):c.730G>T (p.Ala244Ser)5830PEX5Uncertain significance-1RCV001111430; NMONDO:MONDO:0008954,MedGen:C3550273,OMIM:214110, Orphanet:9121273549247354924GT12:g.7354924G>T-
NM_001131025.1(PEX5):c.754-4G>A5830PEX5Conflicting interpretations of pathogenicityrs111286659RCV000351623|RCV000597250|RCV001082911; NMONDO:MONDO:0008954,MedGen:C3550273,OMIM:214110, Orphanet:912|MedGen:CN517202|MedGen:C3550234,OMIM:202370, Orphanet:441273552047355204GA12:g.7355204G>AClinGen:CA6426271
NM_001131023.1(PEX5):c.860T>C (p.Met287Thr)5830PEX5Benignrs76708142RCV000224761|RCV000391395|RCV001083157; NMedGen:CN517202|MONDO:MONDO:0008954,MedGen:C3550273,OMIM:214110, Orphanet:912|MedGen:C3550234,OMIM:202370, Orphanet:441273552697355269TC12:g.7355269T>CClinGen:CA6426282C0282525 202370 Neonatal adrenoleucodystrophy;
NM_001131025.1(PEX5):c.909T>C (p.Ala303=)5830PEX5Uncertain significancers376649488RCV000278913; NMONDO:MONDO:0008954,MedGen:C3550273,OMIM:214110, Orphanet:9121273560907356090TC12:g.7356090T>CClinGen:CA6426311
NM_001131025.1(PEX5):c.966+3G>A5830PEX5Uncertain significancers373763823RCV000224945|RCV000336452|RCV001205030; NMedGen:CN517202|MONDO:MONDO:0008954,MedGen:C3550273,OMIM:214110, Orphanet:912|MedGen:C3550234,OMIM:202370, Orphanet:441273561507356150GA12:g.7356150G>AClinGen:CA6426323CN517202 not provided;
NM_001131025.1(PEX5):c.967-15G>A5830PEX5Uncertain significancers201341037RCV000404589; NMONDO:MONDO:0008954,MedGen:C3550273,OMIM:214110, Orphanet:9121273602407360240GA12:g.7360240G>AClinGen:CA6426337
NM_001351132.2(PEX5):c.998G>A (p.Arg333His)5830PEX5Benignrs59209175RCV000960644|RCV001113427; NMedGen:C3550234,OMIM:202370, Orphanet:44|MONDO:MONDO:0008954,MedGen:C3550273,OMIM:214110, Orphanet:9121273602867360286GA12:g.7360286G>A-
NM_001351132.2(PEX5):c.1033C>T (p.Arg345Cys)5830PEX5Uncertain significance-1RCV001113428|RCV001226169; NMONDO:MONDO:0008954,MedGen:C3550273,OMIM:214110, Orphanet:912|MedGen:C3550234,OMIM:202370, Orphanet:441273603217360321CT12:g.7360321C>T-
NM_001351132.2(PEX5):c.1053G>A (p.Leu351=)5830PEX5Benign/Likely benignrs61740909RCV000949355|RCV001113429; NMedGen:C3550234,OMIM:202370, Orphanet:44|MONDO:MONDO:0008954,MedGen:C3550273,OMIM:214110, Orphanet:9121273603417360341GA12:g.7360341G>A-
NM_001351132.2(PEX5):c.1111-12A>G5830PEX5Uncertain significance-1RCV001113430; NMONDO:MONDO:0008954,MedGen:C3550273,OMIM:214110, Orphanet:9121273605947360594AG12:g.7360594A>G-
NM_001131025.1(PEX5):c.1279C>T (p.Arg427Ter)5830PEX5Pathogenicrs61752137RCV000009715|RCV000483391; NMONDO:MONDO:0008954,MedGen:C3550273,OMIM:214110, Orphanet:912|MedGen:CN5172021273611507361150CT12:g.7361150C>TClinGen:CA120141,OMIM:600414.0002CN517202 not provided;
NM_001351132.2(PEX5):c.1347G>C (p.Gly449=)5830PEX5Uncertain significance-1RCV001113431; NMONDO:MONDO:0008954,MedGen:C3550273,OMIM:214110, Orphanet:9121273612187361218GC12:g.7361218G>C-
NM_001351132.2(PEX5):c.1352G>A (p.Gly451Glu)5830PEX5Uncertain significance-1RCV001250114; NMONDO:MONDO:0008954,MedGen:C3550273,OMIM:214110, Orphanet:912; MedGen:C3550234,OMIM:202370, Orphanet:441273612237361223GA12:g.7361223G>A-
NM_001351132.2(PEX5):c.1395-14T>C5830PEX5Uncertain significance-1RCV001113432; NMONDO:MONDO:0008954,MedGen:C3550273,OMIM:214110, Orphanet:9121273615877361587TC12:g.7361587T>C-
NM_001131025.1(PEX5):c.1413G>C (p.Val471=)5830PEX5Conflicting interpretations of pathogenicityrs115760878RCV000174708|RCV001078686|RCV001113433; NMedGen:CN517202|MedGen:C3550234,OMIM:202370, Orphanet:44|MONDO:MONDO:0008954,MedGen:C3550273,OMIM:214110, Orphanet:9121273616197361619GC12:g.7361619G>CClinGen:CA240282CN169374 not specified;
NM_001131025.1(PEX5):c.1521C>T (p.Ala507=)5830PEX5Conflicting interpretations of pathogenicityrs150761638RCV000301107|RCV000910717|RCV001200577; NMONDO:MONDO:0008954,MedGen:C3550273,OMIM:214110, Orphanet:912|MedGen:C3550234,OMIM:202370, Orphanet:44|MedGen:CN5172021273617277361727CT12:g.7361727C>TClinGen:CA6426476
NM_001131025.1(PEX5):c.1522G>A (p.Val508Met)5830PEX5Uncertain significancers138028549RCV000358283|RCV000591212|RCV001066250; NMONDO:MONDO:0008954,MedGen:C3550273,OMIM:214110, Orphanet:912|MedGen:CN517202|MedGen:C3550234,OMIM:202370, Orphanet:441273617287361728GA12:g.7361728G>AClinGen:CA6426477
NM_001351132.2(PEX5):c.1545C>T (p.Leu515=)5830PEX5Uncertain significance-1RCV001114828; NMONDO:MONDO:0008954,MedGen:C3550273,OMIM:214110, Orphanet:9121273617517361751CT12:g.7361751C>T-
NM_001131025.1(PEX5):c.1578T>G (p.Asn526Lys)5830PEX5Pathogenicrs61752138RCV000009714|RCV000427819|RCV000723322; NMedGen:C3550234,OMIM:202370, Orphanet:44|MedGen:CN517202|MONDO:MONDO:0008954,MedGen:C3550273,OMIM:214110, Orphanet:9121273622967362296TG12:g.7362296T>GClinGen:CA254664,OMIM:600414.0001C0282525 202370 Neonatal adrenoleucodystrophy;
NM_001351132.2(PEX5):c.1607A>G (p.Asn536Ser)5830PEX5Uncertain significance-1RCV001114829; NMONDO:MONDO:0008954,MedGen:C3550273,OMIM:214110, Orphanet:9121273623257362325AG12:g.7362325A>G-
NM_001131025.1(PEX5):c.1632G>A (p.Ala544=)5830PEX5Benignrs115338343RCV000249112|RCV000361805|RCV000970241; NMedGen:CN169374|MONDO:MONDO:0008954,MedGen:C3550273,OMIM:214110, Orphanet:912|MedGen:C3550234,OMIM:202370, Orphanet:441273623507362350GA12:g.7362350G>AClinGen:CA6426528CN169374 not specified;
NM_001131025.1(PEX5):c.1636C>T (p.Arg546Cys)5830PEX5Uncertain significancers759334733RCV000685368|RCV001114830; NMedGen:C3550234,OMIM:202370, Orphanet:44|MONDO:MONDO:0008954,MedGen:C3550273,OMIM:214110, Orphanet:9121273623547362354CT12:g.7362354C>T-C0282525 202370 Neonatal adrenoleucodystrophy;
NM_001131025.1(PEX5):c.1653C>G (p.Leu551=)5830PEX5Uncertain significancers200215904RCV000326811; NMONDO:MONDO:0008954,MedGen:C3550273,OMIM:214110, Orphanet:9121273623717362371CG12:g.7362371C>GClinGen:CA6426536C0043459 214100 Zellweger syndrome;
NM_001131025.1(PEX5):c.1707C>T (p.Leu569=)5830PEX5Conflicting interpretations of pathogenicityrs151312595RCV000290125|RCV001087261|RCV001114831; NMedGen:CN517202|MedGen:C3550234,OMIM:202370, Orphanet:44|MONDO:MONDO:0008954,MedGen:C3550273,OMIM:214110, Orphanet:9121273624257362425CT12:g.7362425C>TClinGen:CA6426550CN169374 not specified;
NM_001131025.1(PEX5):c.1718+13A>G5830PEX5Likely benignrs116873137RCV000253917|RCV000365173; NMedGen:CN169374|MONDO:MONDO:0008954,MedGen:C3550273,OMIM:214110, Orphanet:9121273624497362449AG12:g.7362449A>GClinGen:CA6426559CN169374 not specified;
NM_001131025.1(PEX5):c.1737T>C (p.Phe579=)5830PEX5Uncertain significancers753159772RCV000272531; NMONDO:MONDO:0008954,MedGen:C3550273,OMIM:214110, Orphanet:9121273626367362636TC12:g.7362636T>CClinGen:CA6426578C0043459 214100 Zellweger syndrome;
NM_001351132.2(PEX5):c.1800G>A (p.Ser600=)5830PEX5Conflicting interpretations of pathogenicityrs370306007RCV000903111|RCV001109187; NMedGen:C3550234,OMIM:202370, Orphanet:44|MONDO:MONDO:0008954,MedGen:C3550273,OMIM:214110, Orphanet:9121273626997362699GA12:g.7362699G>A-
NM_001131025.1(PEX5):c.1814G>A (p.Ser605Asn)5830PEX5Uncertain significancers146567534RCV000175024|RCV000329888|RCV000660592|RCV001046733; NMedGen:CN517202|MONDO:MONDO:0008954,MedGen:C3550273,OMIM:214110, Orphanet:912|MONDO:MONDO:0008954,MedGen:C3550273,OMIM:214110, Orphanet:912; MedGen:C3550234,OMIM:202370, Orphanet:44; MONDO:MONDO:0014743,MedGen:C4225237,OMIM:616716, Orphanet:468717|MedGen:C3551273627137362713GA12:g.7362713G>AClinGen:CA240687
NM_001131025.1(PEX5):c.1850G>C (p.Ser617Thr)5830PEX5Uncertain significancers751637149RCV000386857; NMONDO:MONDO:0008954,MedGen:C3550273,OMIM:214110, Orphanet:9121273627497362749GC12:g.7362749G>CClinGen:CA6426603C0043459 214100 Zellweger syndrome;
NM_001131025.1(PEX5):c.1873G>A (p.Ala625Thr)5830PEX5Uncertain significancers143600154RCV000294906; NMONDO:MONDO:0008954,MedGen:C3550273,OMIM:214110, Orphanet:9121273627727362772GA12:g.7362772G>AClinGen:CA6426610C0043459 214100 Zellweger syndrome;
NM_001131025.1(PEX5):c.1875G>A (p.Ala625=)5830PEX5Uncertain significancers371233272RCV000333533; NMONDO:MONDO:0008954,MedGen:C3550273,OMIM:214110, Orphanet:9121273627747362774GA12:g.7362774G>AClinGen:CA6426613C0043459 214100 Zellweger syndrome;
NM_001351132.2(PEX5):c.1876C>T (p.Arg626Trp)5830PEX5Uncertain significance-1RCV001109188; NMONDO:MONDO:0008954,MedGen:C3550273,OMIM:214110, Orphanet:9121273627757362775CT12:g.7362775C>T-
NM_001131025.1(PEX5):c.1902G>A (p.Met634Ile)5830PEX5Uncertain significancers145886418RCV000371902|RCV001202630; NMONDO:MONDO:0008954,MedGen:C3550273,OMIM:214110, Orphanet:912|MedGen:C3550234,OMIM:202370, Orphanet:441273628017362801GA12:g.7362801G>AClinGen:CA6426621C0043459 214100 Zellweger syndrome;
NM_001131025.1(PEX5):c.*1C>T5830PEX5Uncertain significancers886049827RCV000279259; NMONDO:MONDO:0008954,MedGen:C3550273,OMIM:214110, Orphanet:9121273628207362820CT12:g.7362820C>TClinGen:CA10642438C0043459 214100 Zellweger syndrome;
NM_001131025.1(PEX5):c.*20G>C5830PEX5Likely benignrs145760932RCV000244336|RCV001111519; NMedGen:CN169374|MONDO:MONDO:0008954,MedGen:C3550273,OMIM:214110, Orphanet:9121273628397362839GC12:g.7362839G>CClinGen:CA6426628
NM_001351132.2(PEX5):c.*61C>A5830PEX5Uncertain significance-1RCV001111520; NMONDO:MONDO:0008954,MedGen:C3550273,OMIM:214110, Orphanet:9121273628807362880CA12:g.7362880C>A-
NM_001131025.1(PEX5):c.*75G>A5830PEX5Benignrs112966367RCV000336603; NMONDO:MONDO:0008954,MedGen:C3550273,OMIM:214110, Orphanet:9121273628947362894GA12:g.7362894G>AClinGen:CA10638566C0043459 214100 Zellweger syndrome;
NM_001131025.1(PEX5):c.*81A>C5830PEX5Uncertain significancers183460108RCV000392599; NMONDO:MONDO:0008954,MedGen:C3550273,OMIM:214110, Orphanet:9121273629007362900AC12:g.7362900A>CClinGen:CA10643328C0043459 214100 Zellweger syndrome;
NM_001351132.2(PEX5):c.*110G>A5830PEX5Uncertain significance-1RCV001111521; NMONDO:MONDO:0008954,MedGen:C3550273,OMIM:214110, Orphanet:9121273629297362929GA12:g.7362929G>A-
NM_001351132.2(PEX5):c.*114C>T5830PEX5Likely benign-1RCV001111522; NMONDO:MONDO:0008954,MedGen:C3550273,OMIM:214110, Orphanet:9121273629337362933CT12:g.7362933C>T-
NM_001131025.1(PEX5):c.*132C>G5830PEX5Uncertain significancers753013794RCV000283270; NMONDO:MONDO:0008954,MedGen:C3550273,OMIM:214110, Orphanet:9121273629517362951CG12:g.7362951C>GClinGen:CA10638567C0043459 214100 Zellweger syndrome;
NM_001351132.2(PEX5):c.*137C>T5830PEX5Uncertain significance-1RCV001113510; NMONDO:MONDO:0008954,MedGen:C3550273,OMIM:214110, Orphanet:9121273629567362956CT12:g.7362956C>T-
NM_001131025.1(PEX5):c.*141G>A5830PEX5Benignrs3813737RCV000340507; NMONDO:MONDO:0008954,MedGen:C3550273,OMIM:214110, Orphanet:9121273629607362960GA12:g.7362960G>AClinGen:CA10633561C0043459 214100 Zellweger syndrome;
NM_001351132.2(PEX5):c.*171A>G5830PEX5Uncertain significance-1RCV001113511; NMONDO:MONDO:0008954,MedGen:C3550273,OMIM:214110, Orphanet:9121273629907362990AG12:g.7362990A>G-
NM_001131025.1(PEX5):c.*179A>G5830PEX5Uncertain significancers192786621RCV000405822; NMONDO:MONDO:0008954,MedGen:C3550273,OMIM:214110, Orphanet:9121273629987362998AG12:g.7362998A>GClinGen:CA10642441
NM_001351132.2(PEX5):c.*249C>G5830PEX5Uncertain significance-1RCV001113512; NMONDO:MONDO:0008954,MedGen:C3550273,OMIM:214110, Orphanet:9121273630687363068CG12:g.7363068C>G-
NM_001351132.2(PEX5):c.*296C>T5830PEX5Uncertain significance-1RCV001113513; NMONDO:MONDO:0008954,MedGen:C3550273,OMIM:214110, Orphanet:9121273631157363115CT12:g.7363115C>T-
NM_001131025.1(PEX5):c.*322C>T5830PEX5Uncertain significancers764082627RCV000305427; NMONDO:MONDO:0008954,MedGen:C3550273,OMIM:214110, Orphanet:9121273631417363141CT12:g.7363141C>TClinGen:CA10643332
NM_001131025.1(PEX5):c.*403C>T5830PEX5Uncertain significancers886049828RCV000362409; NMONDO:MONDO:0008954,MedGen:C3550273,OMIM:214110, Orphanet:9121273632227363222CT12:g.7363222C>TClinGen:CA10642442
NM_001131025.1(PEX5):c.*452G>C5830PEX5Uncertain significancers185474091RCV000308974; NMONDO:MONDO:0008954,MedGen:C3550273,OMIM:214110, Orphanet:9121273632717363271GC12:g.7363271G>CClinGen:CA10642449
NM_001131025.1(PEX5):c.*462G>C5830PEX5Likely benignrs75145323RCV000367496; NMONDO:MONDO:0008954,MedGen:C3550273,OMIM:214110, Orphanet:9121273632817363281GC12:g.7363281G>CClinGen:CA10643335
NM_001131025.1(PEX5):c.*495G>A5830PEX5Uncertain significancers776371289RCV000275183; NMONDO:MONDO:0008954,MedGen:C3550273,OMIM:214110, Orphanet:9121273633147363314GA12:g.7363314G>AClinGen:CA10638569
NM_001351132.2(PEX5):c.*506T>C5830PEX5Uncertain significance-1RCV001114933; NMONDO:MONDO:0008954,MedGen:C3550273,OMIM:214110, Orphanet:9121273633257363325TC12:g.7363325T>C-
NM_001131025.1(PEX5):c.*627C>T5830PEX5Uncertain significancers146897980RCV000313878; NMONDO:MONDO:0008954,MedGen:C3550273,OMIM:214110, Orphanet:9121273634467363446CT12:g.7363446C>TClinGen:CA10638571
NM_001131025.1(PEX5):c.*628G>A5830PEX5Benignrs12316371RCV000370847; NMONDO:MONDO:0008954,MedGen:C3550273,OMIM:214110, Orphanet:9121273634477363447GA12:g.7363447G>AClinGen:CA10633562
NM_001351132.2(PEX5):c.*628G>C5830PEX5Benign-1RCV001114934; NMONDO:MONDO:0008954,MedGen:C3550273,OMIM:214110, Orphanet:9121273634477363447GC12:g.7363447G>C-
NM_001131025.1(PEX5):c.*677G>T5830PEX5Uncertain significancers886049830RCV000260036; NMONDO:MONDO:0008954,MedGen:C3550273,OMIM:214110, Orphanet:9121273634967363496GT12:g.7363496G>TClinGen:CA10642452
NM_001131025.1(PEX5):c.*722G>A5830PEX5Uncertain significancers886049831RCV000317641; NMONDO:MONDO:0008954,MedGen:C3550273,OMIM:214110, Orphanet:9121273635417363541GA12:g.7363541G>AClinGen:CA10633566
NM_001131025.1(PEX5):c.*755C>G5830PEX5Benignrs1057225RCV000374463; NMONDO:MONDO:0008954,MedGen:C3550273,OMIM:214110, Orphanet:9121273635747363574CG12:g.7363574C>GClinGen:CA10643337
NM_001351132.2(PEX5):c.*766C>T5830PEX5Uncertain significance-1RCV001109286; NMONDO:MONDO:0008954,MedGen:C3550273,OMIM:214110, Orphanet:9121273635857363585CT12:g.7363585C>T-
NM_001131025.1(PEX5):c.*891A>G5830PEX5Uncertain significancers371691416RCV000321147; NMONDO:MONDO:0008954,MedGen:C3550273,OMIM:214110, Orphanet:9121273637107363710AG12:g.7363710A>GClinGen:CA10643348
NM_001351132.2(PEX5):c.*932A>T5830PEX5Uncertain significance-1RCV001109287; NMONDO:MONDO:0008954,MedGen:C3550273,OMIM:214110, Orphanet:9121273637517363751AT12:g.7363751A>T-
NM_001131025.1(PEX5):c.*960C>G5830PEX5Benignrs78134587RCV000378109; NMONDO:MONDO:0008954,MedGen:C3550273,OMIM:214110, Orphanet:9121273637797363779CG12:g.7363779C>GClinGen:CA10633569
NM_001131025.1(PEX5):c.*1080T>C5830PEX5Uncertain significancers755972180RCV000343405; NMONDO:MONDO:0008954,MedGen:C3550273,OMIM:214110, Orphanet:9121273638997363899TC12:g.7363899T>CClinGen:CA10643349
NM_001131025.1(PEX5):c.*1089T>C5830PEX5Uncertain significancers886049834RCV000381703; NMONDO:MONDO:0008954,MedGen:C3550273,OMIM:214110, Orphanet:9121273639087363908TC12:g.7363908T>CClinGen:CA10642457
NM_001351132.2(PEX5):c.*1097T>C5830PEX5Likely benign-1RCV001111619; NMONDO:MONDO:0008954,MedGen:C3550273,OMIM:214110, Orphanet:9121273639167363916TC12:g.7363916T>C-
NM_001131025.1(PEX5):c.*1134T>C5830PEX5Uncertain significancers769928491RCV000406983; NMONDO:MONDO:0008954,MedGen:C3550273,OMIM:214110, Orphanet:9121273639537363953TC12:g.7363953T>CClinGen:CA10642459
NM_001131025.1(PEX5):c.*1134T>A5830PEX5Uncertain significancers769928491RCV000345947; NMONDO:MONDO:0008954,MedGen:C3550273,OMIM:214110, Orphanet:9121273639537363953TA12:g.7363953T>AClinGen:CA10643357
NM_001131025.1(PEX5):c.*1139T>C5830PEX5Uncertain significancers886049836RCV000311996; NMONDO:MONDO:0008954,MedGen:C3550273,OMIM:214110, Orphanet:9121273639587363958TC12:g.7363958T>CClinGen:CA10643364
NM_001131025.1(PEX5):c.*1251G>A5830PEX5Uncertain significancers538222740RCV000350545; NMONDO:MONDO:0008954,MedGen:C3550273,OMIM:214110, Orphanet:9121273640707364070GA12:g.7364070G>AClinGen:CA10642460
NM_001131025.1(PEX5):c.*1259G>C5830PEX5Uncertain significancers148385560RCV000402974; NMONDO:MONDO:0008954,MedGen:C3550273,OMIM:214110, Orphanet:9121273640787364078GC12:g.7364078G>CClinGen:CA10643365
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