MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO
Disease Browser
Parent Node:
expand
Peroxisomal Disorders (D018901)
..Starting node
..expand
PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) (OMIM:614866)

       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:9748
Name:PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER)
Definition:
Alternative IDs:
ParentIDs:MESH:D018901
TreeNumbers:C16.320.565.663/614866 |C18.452.648.663/614866
Synonyms:CG10, INCLUDED |CG5, INCLUDED |CGF, INCLUDED |PBD5A |PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP 10, INCLUDED |PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP 5, INCLUDED |PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP F, INCLUDED
Slim Mappings:Genetic disease (inborn)|Metabolic disease
Reference: MedGen: 614866
MeSH: 614866
OMIM: 614866;
MSeqDR LSDB:  
Genes: EYS; PEX2;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0001627Abnormal heart morphology
3 HP:0011039Abnormality of the helix
4 HP:0001284Areflexia
5 HP:0001088Brushfield spots
6 HP:0012385Camptodactyly
7 HP:0000518Cataract
NAMDC:  Cataracts
8 HP:0000175Cleft palate
9 HP:0008665Clitoral hypertrophy
10 HP:0000028Cryptorchidism
11 HP:0002967Cubitus valgus
12 HP:0000286Epicanthus
13 HP:0010655Epiphyseal stippling
14 HP:0001508Failure to thrive
15 HP:0012368Flat face
16 HP:0001290Generalized hypotonia
17 HP:0008935Generalized neonatal hypotonia
18 HP:0001263Global developmental delay
NAMDC:  Delayed development (evidence of at least one of A through F)
19 HP:0001263Global developmental delay
NAMDC:  Mental retardation
20 HP:0002240Hepatomegaly
21 HP:0001433Hepatosplenomegaly
22 HP:0000348High forehead
23 HP:0000316Hypertelorism
24 HP:0001249Intellectual disability
25 HP:0001401Intrahepatic biliary dysgenesis
26 HP:0001511Intrauterine growth retardation
27 HP:0000952Jaundice
28 HP:0000239Large fontanelles
29 HP:0000369Low-set ears
30 HP:0007227Macrogyria
31 HP:0001840Metatarsus adductus
32 HP:0000347Micrognathia
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:0002126Polymicrogyria
38 HP:0002033Poor suck
39 HP:0004734Renal cortical microcysts
40 HP:0000311Round face
41 HP:0001250Seizures
NAMDC:  Seizures
42 HP:0000954Single transverse palmar crease
43 HP:0001744Splenomegaly
44 HP:0002764Stippled chondral calcification
45 HP:0001762Talipes equinovarus
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_000318.3(PEX2):c.*2973T>C5828PEX2Uncertain significancers751974703RCV000400919; NMONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:91287789252477892524AG8:g.77892524A>GClinGen:CA10625823
NM_000318.3(PEX2):c.*2894T>C5828PEX2Uncertain significancers569387185RCV000355885; NMONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:91287789260377892603AG8:g.77892603A>GClinGen:CA10625826
NM_000318.3(PEX2):c.*2787G>A5828PEX2Uncertain significancers886063123RCV000263439; NMONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:91287789271077892710CT8:g.77892710C>TClinGen:CA10625827
NM_000318.3(PEX2):c.*2700G>T5828PEX2Uncertain significance-1RCV001161835; NMONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:91287789279777892797CA8:g.77892797C>A-
NM_000318.3(PEX2):c.*2663T>A5828PEX2Benignrs28435921RCV000316203; NMONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:91287789283477892834AT8:g.77892834A>TClinGen:CA10625828
NM_000318.3(PEX2):c.*2554G>A5828PEX2Benign-1RCV001161836; NMONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:91287789294377892943CT8:g.77892943C>T-
NM_000318.3(PEX2):c.*2519G>A5828PEX2Uncertain significance-1RCV001161837; NMONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:91287789297877892978CT8:g.77892978C>T-
NM_000318.3(PEX2):c.*2518C>T5828PEX2Uncertain significancers886063124RCV000354675; NMONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:91287789297977892979GA8:g.77892979G>AClinGen:CA10628336
NM_000318.3(PEX2):c.*2466A>G5828PEX2Uncertain significancers886063125RCV000276451; NMONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:91287789303177893031TC8:g.77893031T>CClinGen:CA10631602
NM_000318.3(PEX2):c.*2456C>T5828PEX2Uncertain significance-1RCV001161838; NMONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:91287789304177893041GA8:g.77893041G>A-
NM_000318.3(PEX2):c.*2446C>T5828PEX2Benignrs73242165RCV000333872; NMONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:91287789305177893051GA8:g.77893051G>AClinGen:CA10631561
NM_000318.3(PEX2):c.*2443A>G5828PEX2Likely benign-1RCV001163355; NMONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:91287789305477893054TC8:g.77893054T>C-
NM_000318.3(PEX2):c.*2430T>C5828PEX2Uncertain significancers886063126RCV000386115; NMONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:91287789306777893067AG8:g.77893067A>GClinGen:CA10631603
NM_000318.3(PEX2):c.*2404A>G5828PEX2Uncertain significance-1RCV001163356; NMONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:91287789309377893093TC8:g.77893093T>C-
NM_000318.3(PEX2):c.*2377A>G5828PEX2Benignrs4388434RCV000275336; NMONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:91287789312077893120TC8:g.77893120T>CClinGen:CA10625830
NM_000318.3(PEX2):c.*2338C>T5828PEX2Benignrs56231626RCV000327549; NMONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:91287789315977893159GA8:g.77893159G>AClinGen:CA10628338
NM_000318.3(PEX2):c.*2306A>G5828PEX2Benignrs59296540RCV000384495; NMONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:91287789319177893191TC8:g.77893191T>CClinGen:CA10631604
NM_000318.3(PEX2):c.*2294C>G5828PEX2Uncertain significancers763651452RCV000287637; NMONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:91287789320377893203GC8:g.77893203G>CClinGen:CA10625831
NM_000318.3(PEX2):c.*2142A>G5828PEX2Benignrs79700176RCV000344934; NMONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:91287789335577893355TC8:g.77893355T>CClinGen:CA10631562
NM_000318.3(PEX2):c.*2057G>A5828PEX2Uncertain significancers568202276RCV000378491; NMONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:91287789344077893440CT8:g.77893440C>TClinGen:CA10631563
NM_000318.3(PEX2):c.*2007A>T5828PEX2Uncertain significancers558850392RCV000286386; NMONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:91287789349077893490TA8:g.77893490T>AClinGen:CA10631564C0043459 214100 Zellweger syndrome;
NM_000318.3(PEX2):c.*2004C>T5828PEX2Likely benign-1RCV001165455; NMONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:91287789349377893493GA8:g.77893493G>A-
NM_000318.3(PEX2):c.*1909G>T5828PEX2Benignrs112352942RCV000338974; NMONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:91287789358877893588CA8:g.77893588C>AClinGen:CA10625837C0043459 214100 Zellweger syndrome;
NM_000318.3(PEX2):c.*1858G>A5828PEX2Uncertain significance-1RCV001165456; NMONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:91287789363977893639CT8:g.77893639C>T-
NM_000318.3(PEX2):c.*1854A>C5828PEX2Uncertain significancers886063127RCV000399840; NMONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:91287789364377893643TG8:g.77893643T>GClinGen:CA10628342C0043459 214100 Zellweger syndrome;
NM_000318.3(PEX2):c.*1842G>C5828PEX2Likely benignrs184573256RCV000299694; NMONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:91287789365577893655CG8:g.77893655C>GClinGen:CA10628343
NM_000318.3(PEX2):c.*1811C>T5828PEX2Uncertain significancers886063128RCV000338221; NMONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:91287789368677893686GA8:g.77893686G>AClinGen:CA10625839
NM_000318.3(PEX2):c.*1808C>A5828PEX2Uncertain significance-1RCV001158727; NMONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:91287789368977893689GT8:g.77893689G>T-
NM_000318.3(PEX2):c.*1765G>A5828PEX2Likely benignrs60300869RCV000398488; NMONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:91287789373277893732CT8:g.77893732C>TClinGen:CA10631610
NM_000318.3(PEX2):c.*1755A>G5828PEX2Uncertain significancers886063129RCV000298598; NMONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:91287789374277893742TC8:g.77893742T>CClinGen:CA10625840
NM_000318.3(PEX2):c.*1749A>T5828PEX2Uncertain significance-1RCV001158728; NMONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:91287789374877893748TA8:g.77893748T>A-
NM_000318.3(PEX2):c.*1716A>G5828PEX2Uncertain significancers192555214RCV000369403; NMONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:91287789378177893781TC8:g.77893781T>CClinGen:CA10631565
NM_000318.3(PEX2):c.*1696C>T5828PEX2Benignrs112199677RCV000277391; NMONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:91287789380177893801GA8:g.77893801G>AClinGen:CA10625841
NM_000318.3(PEX2):c.*1606T>G5828PEX2Uncertain significance-1RCV001161940; NMONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:91287789389177893891AC8:g.77893891A>C-
NM_000318.3(PEX2):c.*1602A>G5828PEX2Uncertain significancers557330187RCV000311398; NMONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:91287789389577893895TC8:g.77893895T>CClinGen:CA10625843
NM_000318.3(PEX2):c.*1601T>A5828PEX2Benign-1RCV001161941; NMONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:91287789389677893896AT8:g.77893896A>T-
NM_000318.3(PEX2):c.*1581T>A5828PEX2Uncertain significance-1RCV001161942; NMONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:91287789391677893916AT8:g.77893916A>T-
NM_000318.3(PEX2):c.*1561G>A5828PEX2Uncertain significancers886063130RCV000368367; NMONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:91287789393677893936CT8:g.77893936C>TClinGen:CA10631567
NM_000318.3(PEX2):c.*1448C>T5828PEX2Likely benignrs184740361RCV000325601; NMONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:91287789404977894049GA8:g.77894049G>AClinGen:CA10625845
NM_000318.3(PEX2):c.*1400A>G5828PEX2Uncertain significance-1RCV001161943; NMONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:91287789409777894097TC8:g.77894097T>C-
NM_000318.3(PEX2):c.*1370A>G5828PEX2Uncertain significancers886063131RCV000382416; NMONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:91287789412777894127TC8:g.77894127T>CClinGen:CA10628344
NM_000318.3(PEX2):c.*1331T>C5828PEX2Uncertain significance-1RCV001163461; NMONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:91287789416677894166AG8:g.77894166A>G-
NM_000318.3(PEX2):c.*1319A>T5828PEX2Uncertain significance-1RCV001163462; NMONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:91287789417877894178TA8:g.77894178T>A-
NM_000318.3(PEX2):c.*1242A>G5828PEX2Benignrs73691481RCV000266959; NMONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:91287789425577894255TC8:g.77894255T>CClinGen:CA10631568
NM_000318.3(PEX2):c.*1194A>G5828PEX2Benignrs4311633RCV000324558; NMONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:91287789430377894303TC8:g.77894303T>CClinGen:CA10631571
NM_000318.3(PEX2):c.*1174A>G5828PEX2Uncertain significance-1RCV001163463; NMONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:91287789432377894323TC8:g.77894323T>C-
NM_000318.3(PEX2):c.*1141G>A5828PEX2Benignrs10108054RCV000376758; NMONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:91287789435677894356CT8:g.77894356C>TClinGen:CA10625846
NM_000318.3(PEX2):c.*1085T>A5828PEX2Uncertain significancers886063132RCV000284721; NMONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:91287789441277894412AT8:g.77894412A>TClinGen:CA10631614
NM_000318.3(PEX2):c.*1047T>A5828PEX2Uncertain significancers886063133RCV000337475; NMONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:91287789445077894450AT8:g.77894450A>TClinGen:CA10631574
NM_000318.3(PEX2):c.*1040C>G5828PEX2Likely benign-1RCV001163750; NMONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:91287789445777894457GC8:g.77894457G>C-
NM_000318.3(PEX2):c.*1012C>T5828PEX2Uncertain significance-1RCV001163751; NMONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:91287789448577894485GA8:g.77894485G>A-
NM_000318.3(PEX2):c.*913C>T5828PEX2Uncertain significancers886063134RCV000375770; NMONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:91287789458477894584GA8:g.77894584G>AClinGen:CA10631619
NM_000318.3(PEX2):c.*819A>C5828PEX2Uncertain significancers886063135RCV000278278; NMONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:91287789467877894678TG8:g.77894678T>GClinGen:CA10628345
NM_000318.3(PEX2):c.*789C>T5828PEX2Likely benign-1RCV001163752; NMONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:91287789470877894708GA8:g.77894708G>A-
NM_000318.3(PEX2):c.*780T>A5828PEX2Uncertain significance-1RCV001163753; NMONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:91287789471777894717AT8:g.77894717A>T-
NM_000318.3(PEX2):c.*773T>G5828PEX2Uncertain significance-1RCV001163754; NMONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:91287789472477894724AC8:g.77894724A>C-
NM_000318.3(PEX2):c.*727T>C5828PEX2Benignrs4610720RCV000335628; NMONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:91287789477077894770AG8:g.77894770A>GClinGen:CA10625847
NM_000318.3(PEX2):c.*705T>A5828PEX2Uncertain significance-1RCV001158842; NMONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:91287789479277894792AT8:g.77894792A>T-
NM_000318.3(PEX2):c.*659C>G5828PEX2Uncertain significance-1RCV001158843; NMONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:91287789483877894838GC8:g.77894838G>C-
NM_000318.3(PEX2):c.*645G>T5828PEX2Uncertain significance-1RCV001158844; NMONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:91287789485277894852CA8:g.77894852C>A-
NM_000318.3(PEX2):c.*627G>T5828PEX2Uncertain significancers145960090RCV000393396; NMONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:91287789487077894870CA8:g.77894870C>AClinGen:CA10631580
NM_000318.3(PEX2):c.*596G>A5828PEX2Uncertain significance-1RCV001158845; NMONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:91287789490177894901CT8:g.77894901C>T-
NM_000318.3(PEX2):c.*595C>T5828PEX2Uncertain significancers754113775RCV000314494; NMONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:91287789490277894902GA8:g.77894902G>AClinGen:CA10625848
NM_000318.3(PEX2):c.*498G>A5828PEX2Uncertain significance-1RCV001160189; NMONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:91287789499977894999CT8:g.77894999C>T-
NM_000318.3(PEX2):c.*489C>T5828PEX2Uncertain significancers886063136RCV000348353; NMONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:91287789500877895008GA8:g.77895008G>AClinGen:CA10625852
NM_000318.3(PEX2):c.*458G>A5828PEX2Benignrs143201132RCV000400491; NMONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:91287789503977895039CT8:g.77895039C>TClinGen:CA10631584
NM_000318.3(PEX2):c.*437T>C5828PEX2Uncertain significance-1RCV001160190; NMONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:91287789506077895060AG8:g.77895060A>G-
NM_000318.3(PEX2):c.*419T>G5828PEX2Uncertain significance-1RCV001160191; NMONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:91287789507877895078AC8:g.77895078A>C-
NM_000318.3(PEX2):c.*394T>C5828PEX2Uncertain significance-1RCV001160192; NMONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:91287789510377895103AG8:g.77895103A>G-
NM_000318.3(PEX2):c.*324G>T5828PEX2Uncertain significancers886063137RCV000308640; NMONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:91287789517377895173CA8:g.77895173C>AClinGen:CA10628346
NM_000318.3(PEX2):c.*319A>G5828PEX2Likely benign-1RCV001160193; NMONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:91287789517877895178TC8:g.77895178T>C-
NM_000318.3(PEX2):c.*233C>G5828PEX2Likely benignrs190595998RCV000269718; NMONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:91287789526477895264GC8:g.77895264G>CClinGen:CA10631621
NM_000318.3(PEX2):c.*103C>G5828PEX2Likely benignrs529963492RCV000308524; NMONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:91287789539477895394GC8:g.77895394G>CClinGen:CA10631629
NM_000318.3(PEX2):c.*91A>G5828PEX2Uncertain significancers886063139RCV000360942; NMONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:91287789540677895406TC8:g.77895406T>CClinGen:CA10631585
NM_000318.3(PEX2):c.*40G>A5828PEX2Uncertain significancers148915806RCV000268612; NMONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:91287789545777895457CT8:g.77895457C>TClinGen:CA4788620
NM_000318.3(PEX2):c.*37C>T5828PEX2Uncertain significancers886063140RCV000321349; NMONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:91287789546077895460GA8:g.77895460G>AClinGen:CA10628348
NM_000318.3(PEX2):c.916T>C (p.Ter306Gln)5828PEX2Uncertain significancers1554584372RCV000672565; NMONDO:MONDO:0013933,MedGen:C3542026,OMIM:614867, Orphanet:44; MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:91287789549977895499AG8:g.77895499A>G-C3553940 614866 Peroxisome biogenesis disorder 5a (zellweger);
NM_000318.3(PEX2):c.892G>A (p.Glu298Lys)5828PEX2Likely benignrs544763390RCV000970645|RCV001276113; NMONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912|MONDO:MONDO:0019609,MedGen:C0043459, Orphanet:91287789552377895523CT8:g.77895523C>T-
NM_000318.3(PEX2):c.884C>G (p.Ser295Ter)5828PEX2Uncertain significancers1554584377RCV000666847; NMONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912; MONDO:MONDO:0013933,MedGen:C3542026,OMIM:614867, Orphanet:4487789553177895531GC8:g.77895531G>C-C3553940 614866 Peroxisome biogenesis disorder 5a (zellweger);
NM_000318.3(PEX2):c.857_859del (p.Glu286del)5828PEX2Uncertain significancers1460738027RCV000670056; NMONDO:MONDO:0013933,MedGen:C3542026,OMIM:614867, Orphanet:44; MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:91287789555677895558ACTTA8:g.77895556_77895558del-C3553940 614866 Peroxisome biogenesis disorder 5a (zellweger);
NM_000318.3(PEX2):c.829_833TACTT[1] (p.Phe278fs)5828PEX2Likely pathogenicrs267608188RCV000409075|RCV000411582; NMONDO:MONDO:0013933,MedGen:C3542026,OMIM:614867, Orphanet:44|MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:91287789557777895581CAAGTAC8:g.77895577_77895581delClinGen:CA16041186
NM_000318.3(PEX2):c.826G>C (p.Val276Leu)5828PEX2Uncertain significancers746008519RCV000595773|RCV001221332; NMedGen:CN517202|MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:91287789558977895589CG8:g.77895589C>GClinGen:CA4788645CN169374 not specified;
NM_000318.3(PEX2):c.825C>T (p.Asp275=)5828PEX2Conflicting interpretations of pathogenicityrs367649632RCV000593351|RCV001080311|RCV001279838; NMedGen:CN517202|MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912|MONDO:MONDO:0019609,MedGen:C0043459, Orphanet:91287789559077895590GA8:g.77895590G>AClinGen:CA4788647CN169374 not specified;
NM_000318.3(PEX2):c.795T>C (p.Tyr265=)5828PEX2Conflicting interpretations of pathogenicityrs764785488RCV000405154|RCV001078844|RCV001275869; NMedGen:CN517202|MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912|MONDO:MONDO:0019609,MedGen:C0043459, Orphanet:91287789562077895620AG8:g.77895620A>GClinGen:CA4788653CN169374 not specified;
NM_000318.3(PEX2):c.782A>G (p.His261Arg)5828PEX2Uncertain significancers749956542RCV000674153; NMONDO:MONDO:0013933,MedGen:C3542026,OMIM:614867, Orphanet:44; MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:91287789563377895633TC8:g.77895633T>C-C3553940 614866 Peroxisome biogenesis disorder 5a (zellweger);
NM_000318.3(PEX2):c.769A>G (p.Ile257Val)5828PEX2Uncertain significancers199874465RCV000359695|RCV000660510; NMONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912|MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912; MONDO:MONDO:0013933,MedGen:C3542026,OMIM:614867, Orphanet:4487789564677895646TC8:g.77895646T>CClinGen:CA4788656
NM_000318.3(PEX2):c.748T>C (p.Trp250Arg)5828PEX2Conflicting interpretations of pathogenicityrs142645936RCV000117903|RCV000262649|RCV000435678|RCV001082068; NMedGen:CN169374|MONDO:MONDO:0008953,MedGen:C4721541,OMIM:214100, Orphanet:912|MedGen:CN517202|MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:91287789566777895667AG8:g.77895667A>GClinGen:CA154235CN517202 not provided;
NM_000318.3(PEX2):c.742G>A (p.Gly248Arg)5828PEX2Uncertain significance-1RCV001243083; NMONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:91287789567377895673CT8:g.77895673C>T-
NM_000318.3(PEX2):c.739T>C (p.Cys247Arg)5828PEX2Pathogenicrs61752128RCV000128530; NMONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:91287789567677895676AG8:g.77895676A>GClinGen:CA163284,OMIM:170993.0004C3553940 614866 Peroxisome biogenesis disorder 5a (zellweger);
NM_000318.3(PEX2):c.738A>G (p.Leu246=)5828PEX2Conflicting interpretations of pathogenicityrs376101275RCV000595305|RCV001078723; NMedGen:CN517202|MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:91287789567777895677TC8:g.77895677T>CClinGen:CA4788660CN169374 not specified;
NM_000318.3(PEX2):c.733G>A (p.Ala245Thr)5828PEX2Benignrs112108739RCV000250054|RCV000832320|RCV001079379|RCV001275870; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912|MONDO:MONDO:0019609,MedGen:C0043459, Orphanet:91287789568277895682CT8:g.77895682C>TClinGen:CA4788662
NM_000318.3(PEX2):c.733G>C (p.Ala245Pro)5828PEX2Uncertain significance-1RCV001202424; NMONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:91287789568277895682CG8:g.77895682C>G-
NM_000318.3(PEX2):c.732C>T (p.Cys244=)5828PEX2Likely benignrs142121434RCV000938066; NMONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:91287789568377895683GA8:g.77895683G>A-
NM_000318.3(PEX2):c.722G>T (p.Gly241Val)5828PEX2Conflicting interpretations of pathogenicityrs150734057RCV000078631|RCV001085208; NMedGen:CN517202|MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:91287789569377895693CA8:g.77895693C>AClinGen:CA220656CN169374 not specified;
NM_000318.3(PEX2):c.716C>T (p.Thr239Ile)5828PEX2Uncertain significancers1264938864RCV000686680; NMONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:91287789569977895699GA8:g.77895699G>A-
NM_000318.3(PEX2):c.701_706del (p.Asp234_Thr236delinsAla)5828PEX2Uncertain significancers1554584423RCV000669443; NMONDO:MONDO:0013933,MedGen:C3542026,OMIM:614867, Orphanet:44; MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:91287789570977895714GTATTGTG8:g.77895709_77895714del-C3553940 614866 Peroxisome biogenesis disorder 5a (zellweger);
NM_000318.3(PEX2):c.698G>A (p.Ser233Asn)5828PEX2Uncertain significancers200868032RCV000731121|RCV001061646; NMedGen:CN517202|MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:91287789571777895717CT8:g.77895717C>T-
NM_000318.3(PEX2):c.642G>A (p.Gln214=)5828PEX2Likely benignrs1201496727RCV000919353; NMONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:91287789577377895773CT8:g.77895773C>T-
NM_000318.3(PEX2):c.551G>A (p.Cys184Tyr)5828PEX2Uncertain significancers1266603500RCV000727272|RCV001247511; NMedGen:CN517202|MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:91287789586477895864CT8:g.77895864C>TClinGen:CA4788687
NM_000318.3(PEX2):c.550= (p.Cys184=)5828PEX2Benignrs10087163RCV000586023|RCV001082036; NMedGen:CN517202|MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:91287789586577895865AA8:g.77895865A>.ClinGen:CA658683512CN517202 not provided;
NM_000318.3(PEX2):c.550del (p.Cys184fs)5828PEX2Pathogenicrs63545361RCV000794931; NMONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:91287789586577895865CAC8:g.77895865_77895865del-
NM_000318.3(PEX2):c.547_548AT[1] (p.Ile183fs)5828PEX2Pathogenic-1RCV001064243; NMONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:91287789586577895866CATC8:g.77895865_77895866del-
NM_000318.3(PEX2):c.524C>G (p.Ser175Cys)5828PEX2Uncertain significance-1RCV001163867; NMONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:91287789589177895891GC8:g.77895891G>C-
NM_000318.3(PEX2):c.517A>G (p.Ile173Val)5828PEX2Uncertain significance-1RCV001241914; NMONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:91287789589877895898TC8:g.77895898T>C-
NM_000318.3(PEX2):c.502_503del (p.Glu168fs)5828PEX2Likely pathogenicrs1554584474RCV000666754; NMONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912; MONDO:MONDO:0013933,MedGen:C3542026,OMIM:614867, Orphanet:4487789591277895913TTCT8:g.77895912_77895913del-C3553940 614866 Peroxisome biogenesis disorder 5a (zellweger);
NM_000318.3(PEX2):c.497T>A (p.Leu166Ter)5828PEX2Pathogenicrs1586069639RCV000820647; NMONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:91287789591877895918AT8:g.77895918A>T-
NM_000318.3(PEX2):c.477G>A (p.Gln159=)5828PEX2Benign/Likely benignrs35218706RCV000337534|RCV000972786; NMedGen:CN169374|MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:91287789593877895938CT8:g.77895938C>TClinGen:CA4788702CN169374 not specified;
NM_000318.3(PEX2):c.472del (p.Leu158fs)5828PEX2Likely pathogenicrs1554584487RCV000668243; NMONDO:MONDO:0013933,MedGen:C3542026,OMIM:614867, Orphanet:44; MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:91287789594377895943AGA8:g.77895943_77895943del-C3553940 614866 Peroxisome biogenesis disorder 5a (zellweger);
NM_000318.3(PEX2):c.456T>G (p.Ile152Met)5828PEX2Uncertain significance-1RCV001163868; NMONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:91287789595977895959AC8:g.77895959A>C-
NM_000318.3(PEX2):c.447T>G (p.Gly149=)5828PEX2Conflicting interpretations of pathogenicityrs375401977RCV000728093|RCV001086562|RCV001276114; NMedGen:CN517202|MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912|MONDO:MONDO:0019609,MedGen:C0043459, Orphanet:91287789596877895968AC8:g.77895968A>C-
NM_000318.3(PEX2):c.415G>T (p.Val139Leu)5828PEX2Uncertain significance-1RCV001034724; NMONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:91287789600077896000CA8:g.77896000C>A-
NM_000318.3(PEX2):c.404T>C (p.Val135Ala)5828PEX2Uncertain significance-1RCV001245943; NMONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:91287789601177896011AG8:g.77896011A>G-
NM_000318.3(PEX2):c.374G>A (p.Arg125Gln)5828PEX2Uncertain significance-1RCV001066793; NMONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:91287789604177896041CT8:g.77896041C>T-
NM_000318.3(PEX2):c.373C>T (p.Arg125Ter)5828PEX2Pathogenic/Likely pathogenicrs61752124RCV000664468|RCV000780588|RCV001053880|RCV001275871; NMONDO:MONDO:0013933,MedGen:C3542026,OMIM:614867, Orphanet:44; MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912|MedGen:C1832200, Orphanet:79189|MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912|MONDO:MONDO:0019609,MedGen:C0043459,Orph87789604277896042GA8:g.77896042G>A-C3553940 614866 Peroxisome biogenesis disorder 5a (zellweger);
NM_000318.3(PEX2):c.355C>T (p.Arg119Ter)5828PEX2Pathogenicrs61752123RCV000014703|RCV000032924|RCV000589554|RCV001275872; NMONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912|MONDO:MONDO:0013933,MedGen:C3542026,OMIM:614867, Orphanet:44|MedGen:C1832200, Orphanet:79189|MONDO:MONDO:0019609,MedGen:C0043459, Orphanet:91287789606077896060GA8:g.77896060G>AClinGen:CA123377,OMIM:170993.0001C3553940 614866 Peroxisome biogenesis disorder 5a (zellweger);
NM_000318.3(PEX2):c.354_355del (p.Arg119fs)5828PEX2Likely pathogenicrs1554584505RCV000670666; NMONDO:MONDO:0013933,MedGen:C3542026,OMIM:614867, Orphanet:44; MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:91287789606077896061CGTC8:g.77896060_77896061del-C3553940 614866 Peroxisome biogenesis disorder 5a (zellweger);
NM_000318.3(PEX2):c.349_351GAA[1] (p.Glu118del)5828PEX2Uncertain significancers1554584507RCV000672893; NMONDO:MONDO:0013933,MedGen:C3542026,OMIM:614867, Orphanet:44; MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:91287789606177896063GTTCG8:g.77896061_77896063del-C3553940 614866 Peroxisome biogenesis disorder 5a (zellweger);
NM_000318.3(PEX2):c.339_345del (p.Gly113_Arg114insTer)5828PEX2Pathogenic/Likely pathogenicrs764771123RCV000310327|RCV000410454|RCV000587540|RCV000726022|RCV001275873; NMONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912|MONDO:MONDO:0013933,MedGen:C3542026,OMIM:614867, Orphanet:44|MedGen:C1832200, Orphanet:79189|MedGen:CN517202|MONDO:MONDO:0019609,MedGen:C0043459, Orphanet:91287789607077896076ACCACCTGA8:g.77896070_77896076delClinGen:CA4788726C3553940 614866 Peroxisome biogenesis disorder 5a (zellweger);
NM_000318.3(PEX2):c.331A>G (p.Ile111Val)5828PEX2Uncertain significance-1RCV001042037|RCV001276115; NMONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912|MONDO:MONDO:0019609,MedGen:C0043459, Orphanet:91287789608477896084TC8:g.77896084T>C-
NM_000318.3(PEX2):c.322G>C (p.Val108Leu)5828PEX2Uncertain significancers148101729RCV000285596|RCV001163869; NMedGen:CN517202|MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:91287789609377896093CG8:g.77896093C>GClinGen:CA4788734CN169374 not specified;
NM_000318.3(PEX2):c.304C>T (p.Gln102Ter)5828PEX2Likely pathogenicrs200065382RCV000669502; NMONDO:MONDO:0013933,MedGen:C3542026,OMIM:614867, Orphanet:44; MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:91287789611177896111GA8:g.77896111G>A-C3553940 614866 Peroxisome biogenesis disorder 5a (zellweger);
NM_000318.3(PEX2):c.304C>A (p.Gln102Lys)5828PEX2Uncertain significancers200065382RCV000734498|RCV001066961; NMedGen:CN517202|MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:91287789611177896111GT8:g.77896111G>T-
NM_000318.3(PEX2):c.288G>A (p.Gln96=)5828PEX2Likely benignrs370236723RCV000943559|RCV001276116; NMONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912|MONDO:MONDO:0019609,MedGen:C0043459, Orphanet:91287789612777896127CT8:g.77896127C>T-
NM_000318.3(PEX2):c.279_283del (p.Arg94fs)5828PEX2Pathogenicrs61752122RCV000128529|RCV000781714|RCV001275875; NMONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912|MedGen:C1832200, Orphanet:79189|MONDO:MONDO:0019609,MedGen:C0043459, Orphanet:91287789613277896136TATCTCT8:g.77896132_77896136delClinGen:CA163283,OMIM:170993.0003
NM_000318.3(PEX2):c.282A>T (p.Arg94Ser)5828PEX2Uncertain significancers140963177RCV000732005|RCV001163870|RCV001250053; NMedGen:CN517202|MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912|MONDO:MONDO:0013933,MedGen:C3542026,OMIM:614867, Orphanet:44; MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:91287789613377896133TA8:g.77896133T>A-
NM_000318.3(PEX2):c.269C>T (p.Ser90Phe)5828PEX2Conflicting interpretations of pathogenicityrs146354196RCV000153683|RCV001081360; NMedGen:CN517202|MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:91287789614677896146GA8:g.77896146G>AClinGen:CA234531CN169374 not specified;
NM_000318.3(PEX2):c.237A>G (p.Ser79=)5828PEX2Likely benignrs138220337RCV000349532|RCV000884934; NMedGen:CN169374|MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:91287789617877896178TC8:g.77896178T>CClinGen:CA4788748CN169374 not specified;
NM_000318.3(PEX2):c.232C>T (p.Gln78Ter)5828PEX2Pathogenicrs1586070043RCV000805043; NMONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:91287789618377896183GA8:g.77896183G>A-
NM_000318.3(PEX2):c.218del (p.Asn73fs)5828PEX2Pathogenicrs1586070089RCV000808915; NMONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:91287789619777896197ATA8:g.77896197_77896197del-
NM_000318.3(PEX2):c.209A>G (p.Tyr70Cys)5828PEX2Conflicting interpretations of pathogenicityrs35689779RCV000382602|RCV000514881|RCV001086854; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:91287789620677896206TC8:g.77896206T>CClinGen:CA4788753CN517202 not provided;
NM_000318.3(PEX2):c.152G>T (p.Arg51Leu)5828PEX2Uncertain significancers549242503RCV000372099; NMONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:91287789626377896263CA8:g.77896263C>AClinGen:CA10628349
NM_000318.3(PEX2):c.151C>T (p.Arg51Cys)5828PEX2Uncertain significance-1RCV001158942; NMONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:91287789626477896264GA8:g.77896264G>A-
NM_000318.3(PEX2):c.140G>C (p.Gly47Ala)5828PEX2Uncertain significance-1RCV001239395; NMONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:91287789627577896275CG8:g.77896275C>G-
NM_000318.3(PEX2):c.139G>A (p.Gly47Arg)5828PEX2Uncertain significancers138590115RCV000814886|RCV001275876; NMONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912|MONDO:MONDO:0019609,MedGen:C0043459, Orphanet:91287789627677896276CT8:g.77896276C>T-
NM_000318.3(PEX2):c.129A>G (p.Gly43=)5828PEX2Likely benignrs779946897RCV000882208|RCV001276117; NMONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912|MONDO:MONDO:0019609,MedGen:C0043459, Orphanet:91287789628677896286TC8:g.77896286T>C-
NM_000318.3(PEX2):c.116A>G (p.Gln39Arg)5828PEX2Uncertain significance-1RCV001158943; NMONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:91287789629977896299TC8:g.77896299T>C-
NM_000318.3(PEX2):c.96A>G (p.Leu32=)5828PEX2Likely benignrs754405926RCV000942734; NMONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:91287789631977896319TC8:g.77896319T>C-
NM_000318.3(PEX2):c.91C>G (p.Gln31Glu)5828PEX2Conflicting interpretations of pathogenicityrs149287302RCV000078632|RCV000660597|RCV000967707|RCV001276118; NMedGen:CN169374|MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912; MONDO:MONDO:0013933,MedGen:C3542026,OMIM:614867, Orphanet:44|MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912|MONDO:MONDO:0019609,MedGen:C0043459, Orphanet:91287789632477896324GC8:g.77896324G>CClinGen:CA220659
NM_000318.3(PEX2):c.85C>T (p.Leu29=)5828PEX2Likely benignrs1277480138RCV000977235; NMONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:91287789633077896330GA8:g.77896330G>A-
NM_000318.3(PEX2):c.78_80del (p.Asn26del)5828PEX2Uncertain significance-1RCV001237380; NMONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:91287789633577896337CTTGC8:g.77896335_77896337del-
NM_000318.3(PEX2):c.76A>G (p.Asn26Asp)5828PEX2Uncertain significance-1RCV001043590|RCV001276119; NMONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912|MONDO:MONDO:0019609,MedGen:C0043459, Orphanet:91287789633977896339TC8:g.77896339T>C-
NM_000318.3(PEX2):c.66A>C (p.Ala22=)5828PEX2Likely benignrs572094828RCV000936253; NMONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:91287789634977896349TG8:g.77896349T>G-
NM_000318.3(PEX2):c.34_37del (p.Asn12fs)5828PEX2Pathogenic-1RCV001210965; NMONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:91287789637877896381CTGTTC8:g.77896378_77896381del-
NM_000318.3(PEX2):c.24G>A (p.Ala8=)5828PEX2Benignrs9298285RCV000332603|RCV000676169|RCV001275877; NMONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912|MedGen:CN517202|MONDO:MONDO:0019609,MedGen:C0043459, Orphanet:91287789639177896391CT8:g.77896391C>TClinGen:CA4788781
NM_000318.3(PEX2):c.-17-2A>G5828PEX2Conflicting interpretations of pathogenicityrs1289852067RCV000672992|RCV001251181; NMONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912; MONDO:MONDO:0013933,MedGen:C3542026,OMIM:614867, Orphanet:44|MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:91287789643377896433TC8:g.77896433T>C-C3553940 614866 Peroxisome biogenesis disorder 5a (zellweger);
NM_000318.3(PEX2):c.-164C>A5828PEX2Benignrs12718RCV000292942; NMONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:91287791223077912230GT8:g.77912230G>TClinGen:CA4788808C0043459 214100 Zellweger syndrome;
NM_000318.3(PEX2):c.-178C>T5828PEX2Uncertain significancers886063141RCV000350256; NMONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:91287791224477912244GA8:g.77912244G>AClinGen:CA10631639
NM_000318.3(PEX2):c.-183G>T5828PEX2Uncertain significancers568404564RCV000397914; NMONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:91287791224977912249CA8:g.77912249C>AClinGen:CA4788810
MSeqDR Portal