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
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Parent Node:
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Peroxisomal Disorders (D018901)
..Starting node
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PEROXISOME BIOGENESIS DISORDER 6B (OMIM:614871)

       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:9751
Name:PEROXISOME BIOGENESIS DISORDER 6B
Definition:
Alternative IDs:
ParentIDs:MESH:D018901
TreeNumbers:C16.320.565.663/614871 |C18.452.648.663/614871
Synonyms:PBD6B
Slim Mappings:Genetic disease (inborn)|Metabolic disease
Reference: MedGen: 614871
MeSH: 614871
OMIM: 614871;
MSeqDR LSDB:  
Genes: PEX10;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0002500Abnormality of the cerebral white matterHP:0040283
3 HP:0001251Ataxia
4 HP:0001272Cerebellar atrophy
5 HP:0001410Decreased liver function
6 HP:0003693Distal amyotrophyHP:0040283
7 HP:0002936Distal sensory impairmentHP:0040283
8 HP:0001260Dysarthria
NAMDC:  Dysarthria
9 HP:0000641Dysmetric saccades
10 HP:0001290Generalized hypotoniaHP:0040283
11 HP:0001263Global developmental delay
NAMDC:  Delayed development (evidence of at least one of A through F)
12 HP:0001263Global developmental delay
NAMDC:  Mental retardation
13 HP:0001265HyporeflexiaHP:0040283
14 HP:0007772Impaired smooth pursuit
15 HP:0002080Intention tremorHP:0040283
16 HP:0001319Neonatal hypotonia
NAMDC:  Floppy baby
17 HP:0000639Nystagmus
18 HP:0001761Pes cavusHP:0040283
19 HP:0000556Retinal dystrophy
20 HP:0000407Sensorineural hearing impairment
NAMDC:  Sensorineural hearing loss
21 HP:0003677Slow progression
22 HP:0003828Variable expressivity
23 HP:0000505Visual impairment
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_002617.4(PEX10):c.981A>G (p.Ter327Trp)5192PEX10Uncertain significancers1358135448RCV000672815; NMONDO:MONDO:0013937,MedGen:C3553948,OMIM:614871, Orphanet:44; MONDO:MONDO:0013936,MedGen:C3553947,OMIM:614870, Orphanet:912123372052337205TC1:g.2337205T>C-C3553947 614870 Peroxisome biogenesis disorder 6A;
NM_002617.4(PEX10):c.979T>C (p.Ter327Arg)5192PEX10Uncertain significancers779199089RCV000668181; NMONDO:MONDO:0013936,MedGen:C3553947,OMIM:614870, Orphanet:912; MONDO:MONDO:0013937,MedGen:C3553948,OMIM:614871, Orphanet:44123372072337207AG1:g.2337207A>G-C3553947 614870 Peroxisome biogenesis disorder 6A;
NM_002617.4(PEX10):c.977G>A (p.Arg326His)5192PEX10Uncertain significancers140890506RCV000286286|RCV000667284; NMONDO:MONDO:0013936,MedGen:C3553947,OMIM:614870, Orphanet:912|MONDO:MONDO:0013936,MedGen:C3553947,OMIM:614870, Orphanet:912; MONDO:MONDO:0013937,MedGen:C3553948,OMIM:614871, Orphanet:44123372092337209CTNC_000001.10:g.2337209C>TClinGen:CA537939C3553947 614870 Peroxisome biogenesis disorder 6A;
NM_002617.4(PEX10):c.952_954del (p.Lys318del)5192PEX10Uncertain significancers1553231582RCV000672897; NMONDO:MONDO:0013937,MedGen:C3553948,OMIM:614871, Orphanet:44; MONDO:MONDO:0013936,MedGen:C3553947,OMIM:614870, Orphanet:912123372322337234GCTTG1:g.2337232_2337234del-C3553947 614870 Peroxisome biogenesis disorder 6A;
NM_002617.4(PEX10):c.932G>A (p.Arg311Gln)5192PEX10Conflicting interpretations of pathogenicityrs724160001RCV000149811|RCV000675089|RCV000728635|RCV001246837; NMONDO:MONDO:0013937,MedGen:C3553948,OMIM:614871, Orphanet:44|MONDO:MONDO:0013936,MedGen:C3553947,OMIM:614870, Orphanet:912; MONDO:MONDO:0013937,MedGen:C3553948,OMIM:614871, Orphanet:44|MedGen:CN517202|MedGen:C1864399123372542337254CT1:g.2337254C>TClinGen:CA175039,OMIM:602859.0009C3553947 614870 Peroxisome biogenesis disorder 6A;
NM_002617.4(PEX10):c.913-2A>C5192PEX10Uncertain significancers758250423RCV000671708|RCV001855565; NMONDO:MONDO:0013936,MedGen:C3553947,OMIM:614870, Orphanet:912; MONDO:MONDO:0013937,MedGen:C3553948,OMIM:614871, Orphanet:44|MedGen:C1864399123372752337275TG1:g.2337275T>G-C3553947 614870 Peroxisome biogenesis disorder 6A;
NM_002617.4(PEX10):c.913-4G>A5192PEX10Benignrs11586985RCV000251204|RCV000341363|RCV000676041|RCV001523635|RCV001537787|RCV001833286; NMedGen:CN169374|MONDO:MONDO:0013936,MedGen:C3553947,OMIM:614870, Orphanet:912|MedGen:CN517202|MedGen:C1864399|MONDO:MONDO:0013937,MedGen:C3553948,OMIM:614871, Orphanet:44|MONDO:MONDO:0019609,MedGen:C0043459, Orphanet:912123372772337277CTNC_000001.10:g.2337277C>TClinGen:CA537958CN517202 not provided;
NM_002617.4(PEX10):c.912+1G>C5192PEX10Likely pathogenicrs1553231739RCV000669958|RCV001784260; NMONDO:MONDO:0013936,MedGen:C3553947,OMIM:614870, Orphanet:912; MONDO:MONDO:0013937,MedGen:C3553948,OMIM:614871, Orphanet:44|MedGen:CN517202123379222337922CG1:g.2337922C>G-C3553947 614870 Peroxisome biogenesis disorder 6A;
NM_002617.4(PEX10):c.912+1G>A5192PEX10Likely pathogenicrs1553231739RCV000673106; NMONDO:MONDO:0013937,MedGen:C3553948,OMIM:614871, Orphanet:44; MONDO:MONDO:0013936,MedGen:C3553947,OMIM:614870, Orphanet:912123379222337922CT1:g.2337922C>T-C3553947 614870 Peroxisome biogenesis disorder 6A;
NM_002617.4(PEX10):c.876CTG[1] (p.Cys293del)5192PEX10Uncertain significancers1438047457RCV000666386; NMONDO:MONDO:0013937,MedGen:C3553948,OMIM:614871, Orphanet:44; MONDO:MONDO:0013936,MedGen:C3553947,OMIM:614870, Orphanet:912123379542337956CCAGC1:g.2337954_2337956del-C3553947 614870 Peroxisome biogenesis disorder 6A;
NM_002617.4(PEX10):c.870C>G (p.His290Gln)5192PEX10Pathogenicrs61752095RCV000007173; NMONDO:MONDO:0013937,MedGen:C3553948,OMIM:614871, Orphanet:44123379652337965GC1:g.2337965G>CClinGen:CA118504,OMIM:602859.0002C3553948 614871 Peroxisome biogenesis disorder 6B;
NM_002617.4(PEX10):c.868C>G (p.His290Asp)5192PEX10Uncertain significancers61752094RCV000668280|RCV001221744; NMONDO:MONDO:0013936,MedGen:C3553947,OMIM:614870, Orphanet:912; MONDO:MONDO:0013937,MedGen:C3553948,OMIM:614871, Orphanet:44|MedGen:C1864399123379672337967GC1:g.2337967G>C-C3553947 614870 Peroxisome biogenesis disorder 6A;
NM_002617.4(PEX10):c.855_857dup (p.Thr286dup)5192PEX10Uncertain significancers1553231765RCV000674968; NMONDO:MONDO:0013936,MedGen:C3553947,OMIM:614870, Orphanet:912; MONDO:MONDO:0013937,MedGen:C3553948,OMIM:614871, Orphanet:44123379772337978CCGTG1:g.2337977_2337978insGTG-C3553947 614870 Peroxisome biogenesis disorder 6A;
NM_002617.4(PEX10):c.830T>C (p.Leu277Pro)5192PEX10Conflicting interpretations of pathogenicityrs724160000RCV000149810|RCV000675117|RCV001206752; NMONDO:MONDO:0013937,MedGen:C3553948,OMIM:614871, Orphanet:44|MONDO:MONDO:0013936,MedGen:C3553947,OMIM:614870, Orphanet:912; MONDO:MONDO:0013937,MedGen:C3553948,OMIM:614871, Orphanet:44|MedGen:C1864399123380052338005AG1:g.2338005A>GClinGen:CA175037,OMIM:602859.0008C3553947 614870 Peroxisome biogenesis disorder 6A;
NM_002617.4(PEX10):c.827G>T (p.Cys276Phe)5192PEX10Conflicting interpretations of pathogenicityrs1414973726RCV000674714|RCV001377362; NMONDO:MONDO:0013936,MedGen:C3553947,OMIM:614870, Orphanet:912; MONDO:MONDO:0013937,MedGen:C3553948,OMIM:614871, Orphanet:44|MedGen:C1864399123380082338008CA1:g.2338008C>A-C3553947 614870 Peroxisome biogenesis disorder 6A;
NM_002617.4(PEX10):c.814_815del (p.Leu272fs)5192PEX10Pathogenicrs61752093RCV000409050|RCV000411962|RCV000590803|RCV000727676|RCV000800883|RCV001272085; NMONDO:MONDO:0013937,MedGen:C3553948,OMIM:614871, Orphanet:44|MONDO:MONDO:0013936,MedGen:C3553947,OMIM:614870, Orphanet:912|MONDO:MONDO:0019234,MedGen:C1832200,OMIM:PS214100, Orphanet:79189|MedGen:CN517202|MedGen:C1864399|MONDO:MONDO:0019609,MedGen:C0043459123380202338021CAGCNC_000001.10:g.2338020_2338021delClinGen:CA538007,OMIM:602859.0004C3553947 614870 Peroxisome biogenesis disorder 6A;
NM_002617.4(PEX10):c.815del (p.Leu272fs)5192PEX10Likely pathogenicrs1553231783RCV000671093; NMONDO:MONDO:0013936,MedGen:C3553947,OMIM:614870, Orphanet:912; MONDO:MONDO:0013937,MedGen:C3553948,OMIM:614871, Orphanet:44123380202338020CAC1:g.2338020_2338020del-C3553947 614870 Peroxisome biogenesis disorder 6A;
NM_002617.4(PEX10):c.795_796del (p.Arg265fs)5192PEX10Pathogenic/Likely pathogenicrs1553231787RCV000668448|RCV001861767; NMONDO:MONDO:0013936,MedGen:C3553947,OMIM:614870, Orphanet:912; MONDO:MONDO:0013937,MedGen:C3553948,OMIM:614871, Orphanet:44|MedGen:C1864399123380392338040GCTG1:g.2338039_2338040del-C3553947 614870 Peroxisome biogenesis disorder 6A;
NM_002617.4(PEX10):c.790G>T (p.Glu264Ter)5192PEX10Likely pathogenicrs769251149RCV000669210; NMONDO:MONDO:0013936,MedGen:C3553947,OMIM:614870, Orphanet:912; MONDO:MONDO:0013937,MedGen:C3553948,OMIM:614871, Orphanet:44123380452338045CA1:g.2338045C>A-C3553947 614870 Peroxisome biogenesis disorder 6A;
NM_002617.4(PEX10):c.776+33G>T5192PEX10Benign-1RCV001537788|RCV001537789|RCV001709728; NMONDO:MONDO:0013936,MedGen:C3553947,OMIM:614870, Orphanet:912|MONDO:MONDO:0013937,MedGen:C3553948,OMIM:614871, Orphanet:44|MedGen:CN517202123381262338126CA2338126-
NM_002617.4(PEX10):c.776+2T>C5192PEX10Likely pathogenicrs1335685844RCV000670741; NMONDO:MONDO:0013936,MedGen:C3553947,OMIM:614870, Orphanet:912; MONDO:MONDO:0013937,MedGen:C3553948,OMIM:614871, Orphanet:44123381572338157AG1:g.2338157A>G-C3553947 614870 Peroxisome biogenesis disorder 6A;
NM_002617.4(PEX10):c.776+2T>A5192PEX10Likely pathogenicrs1335685844RCV000668740; NMONDO:MONDO:0013936,MedGen:C3553947,OMIM:614870, Orphanet:912; MONDO:MONDO:0013937,MedGen:C3553948,OMIM:614871, Orphanet:44123381572338157AT1:g.2338157A>T-C3553947 614870 Peroxisome biogenesis disorder 6A;
NM_002617.4(PEX10):c.761del (p.Gly254fs)5192PEX10Pathogenic/Likely pathogenicrs1553231820RCV000670303|RCV000733621; NMONDO:MONDO:0013936,MedGen:C3553947,OMIM:614870, Orphanet:912; MONDO:MONDO:0013937,MedGen:C3553948,OMIM:614871, Orphanet:44|MedGen:CN517202123381742338174GCG1:g.2338174_2338174del-C3553947 614870 Peroxisome biogenesis disorder 6A;
NM_002617.4(PEX10):c.760G>A (p.Gly254Ser)5192PEX10Uncertain significancers761942658RCV000297739|RCV000668940; NMONDO:MONDO:0013936,MedGen:C3553947,OMIM:614870, Orphanet:912|MONDO:MONDO:0013936,MedGen:C3553947,OMIM:614870, Orphanet:912; MONDO:MONDO:0013937,MedGen:C3553948,OMIM:614871, Orphanet:44123381752338175CTNC_000001.10:g.2338175C>TClinGen:CA538045C3553947 614870 Peroxisome biogenesis disorder 6A;
NM_002617.4(PEX10):c.755_756del (p.His252fs)5192PEX10Likely pathogenicrs1325771720RCV000665115|RCV001784230; NMONDO:MONDO:0013936,MedGen:C3553947,OMIM:614870, Orphanet:912; MONDO:MONDO:0013937,MedGen:C3553948,OMIM:614871, Orphanet:44|MedGen:CN517202123381792338180GGTG1:g.2338179_2338180del-C3553947 614870 Peroxisome biogenesis disorder 6A;
NM_002617.4(PEX10):c.730C>T (p.Arg244Ter)5192PEX10Pathogenicrs61752092RCV000149813|RCV000666851|RCV000677268|RCV001208724|RCV001844050|RCV001831930; NMONDO:MONDO:0013937,MedGen:C3553948,OMIM:614871, Orphanet:44|MONDO:MONDO:0013936,MedGen:C3553947,OMIM:614870, Orphanet:912; MONDO:MONDO:0013937,MedGen:C3553948,OMIM:614871, Orphanet:44|MONDO:MONDO:0013936,MedGen:C3553947,OMIM:614870, Orphanet:912|MedGen:C186123382052338205GANC_000001.10:g.2338205G>AOMIM:602859.0012,OMIM:602859.0011,ClinGen:CA175042C3553947 614870 Peroxisome biogenesis disorder 6A;
NM_002617.4(PEX10):c.725G>A (p.Arg242Gln)5192PEX10Uncertain significancers142257121RCV001239316|RCV001578801|RCV001578802|RCV001836201; NMedGen:C1864399|MONDO:MONDO:0013936,MedGen:C3553947,OMIM:614870, Orphanet:912|MONDO:MONDO:0013937,MedGen:C3553948,OMIM:614871, Orphanet:44|MONDO:MONDO:0019609,MedGen:C0043459, Orphanet:912123382102338210CT1:g.2338210C>T-
NM_002617.4(PEX10):c.712G>C (p.Gly238Arg)5192PEX10Conflicting interpretations of pathogenicityrs61736380RCV000178398|RCV000763844|RCV001097563|RCV001034401|RCV001272159; NMedGen:CN517202|MONDO:MONDO:0013936,MedGen:C3553947,OMIM:614870, Orphanet:912; MONDO:MONDO:0013937,MedGen:C3553948,OMIM:614871, Orphanet:44|MONDO:MONDO:0013936,MedGen:C3553947,OMIM:614870, Orphanet:912|MedGen:C1864399|MONDO:MONDO:0019609,MedGen:C0043459,Orp123382232338223CG1:g.2338223C>GClinGen:CA245491CN169374 not specified;
NM_002617.4(PEX10):c.711C>T (p.Tyr237=)5192PEX10Conflicting interpretations of pathogenicityrs761005209RCV000354897|RCV000667713|RCV001499270; NMONDO:MONDO:0013936,MedGen:C3553947,OMIM:614870, Orphanet:912|MONDO:MONDO:0013936,MedGen:C3553947,OMIM:614870, Orphanet:912; MONDO:MONDO:0013937,MedGen:C3553948,OMIM:614871, Orphanet:44|MedGen:C1864399123382242338224GANC_000001.10:g.2338224G>AClinGen:CA538063C3553947 614870 Peroxisome biogenesis disorder 6A;
NM_002617.4(PEX10):c.704dup (p.Leu236fs)5192PEX10Pathogenicrs61750435RCV000007176|RCV000149808|RCV000324305|RCV000644606|RCV000781707|RCV001273135; NMONDO:MONDO:0013936,MedGen:C3553947,OMIM:614870, Orphanet:912|MONDO:MONDO:0013937,MedGen:C3553948,OMIM:614871, Orphanet:44|MedGen:CN517202|MedGen:C1864399|MONDO:MONDO:0019234,MedGen:C1832200,OMIM:PS214100, Orphanet:79189|MONDO:MONDO:0019609,MedGen:C0043459123382302338231CCT1:g.2338230_2338231insTClinGen:CA118509,OMIM:602859.0005CN517202 not provided;
NM_002617.4(PEX10):c.692_703del (p.Ser231_Gln235delinsTer)5192PEX10Pathogenic/Likely pathogenicrs768893724RCV000673610|RCV001048988; NMONDO:MONDO:0013937,MedGen:C3553948,OMIM:614871, Orphanet:44; MONDO:MONDO:0013936,MedGen:C3553947,OMIM:614870, Orphanet:912|MedGen:C1864399123382322338243TGCAGCCCCATGGT1:g.2338232_2338243del-C3553947 614870 Peroxisome biogenesis disorder 6A;
NM_002617.4(PEX10):c.601-24_601-23del5192PEX10Likely pathogenicrs1553231875RCV000667148; NMONDO:MONDO:0013937,MedGen:C3553948,OMIM:614871, Orphanet:44; MONDO:MONDO:0013936,MedGen:C3553947,OMIM:614870, Orphanet:912123383572338358ACTA1:g.2338357_2338358del-C3553947 614870 Peroxisome biogenesis disorder 6A;
NM_002617.4(PEX10):c.601-26_601-25delinsCTC5192PEX10Likely pathogenicrs1553231888RCV000664674; NMONDO:MONDO:0013936,MedGen:C3553947,OMIM:614870, Orphanet:912; MONDO:MONDO:0013937,MedGen:C3553948,OMIM:614871, Orphanet:44123383592338360CAGAG1:g.2338359_2338360insAG-C3553947 614870 Peroxisome biogenesis disorder 6A;
NM_002617.4(PEX10):c.601-38_601-37del5192PEX10Pathogenic/Likely pathogenicrs1553231896RCV000672634|RCV001043785; NMONDO:MONDO:0013937,MedGen:C3553948,OMIM:614871, Orphanet:44; MONDO:MONDO:0013936,MedGen:C3553947,OMIM:614870, Orphanet:912|MedGen:C1864399123383712338372TGAT1:g.2338371_2338372del-C3553947 614870 Peroxisome biogenesis disorder 6A;
NM_002617.4(PEX10):c.600+1G>A5192PEX10Pathogenicrs267608183RCV000007172|RCV000519441|RCV000817369|RCV000983989|RCV001174563|RCV001273137; NMONDO:MONDO:0013936,MedGen:C3553947,OMIM:614870, Orphanet:912|MedGen:CN517202|MedGen:C1864399|MONDO:MONDO:0013937,MedGen:C3553948,OMIM:614871, Orphanet:44|MONDO:MONDO:0019234,MedGen:C1832200,OMIM:PS214100, Orphanet:79189|MONDO:MONDO:0019609,MedGen:C0043459123398902339890CT1:g.2339890C>TClinGen:CA118503,OMIM:602859.0001CN517202 not provided;
NM_002617.4(PEX10):c.600+1del5192PEX10Likely pathogenicrs1553232077RCV000668691; NMONDO:MONDO:0013936,MedGen:C3553947,OMIM:614870, Orphanet:912; MONDO:MONDO:0013937,MedGen:C3553948,OMIM:614871, Orphanet:44123398902339890ACA1:g.2339890_2339890del-C3553947 614870 Peroxisome biogenesis disorder 6A;
NM_002617.4(PEX10):c.373C>T (p.Arg125Ter)5192PEX10Pathogenic/Likely pathogenicrs61750434RCV000007174|RCV000670577|RCV001058978; NMONDO:MONDO:0013937,MedGen:C3553948,OMIM:614871, Orphanet:44|MONDO:MONDO:0013936,MedGen:C3553947,OMIM:614870, Orphanet:912; MONDO:MONDO:0013937,MedGen:C3553948,OMIM:614871, Orphanet:44|MedGen:C1864399123401182340118GA1:g.2340118G>AClinGen:CA118506,OMIM:602859.0003C3553947 614870 Peroxisome biogenesis disorder 6A;
NM_002617.4(PEX10):c.352C>T (p.Gln118Ter)5192PEX10Likely pathogenicrs369965266RCV000411504|RCV000410037|RCV001290646; NMONDO:MONDO:0013937,MedGen:C3553948,OMIM:614871, Orphanet:44|MONDO:MONDO:0013936,MedGen:C3553947,OMIM:614870, Orphanet:912|MONDO:MONDO:0019234,MedGen:C1832200,OMIM:PS214100, Orphanet:79189123401392340139GANC_000001.10:g.2340139G>AClinGen:CA16040725C3553947 614870 Peroxisome biogenesis disorder 6A;
NM_002617.4(PEX10):c.337del (p.Leu113fs)5192PEX10Pathogenicrs724159999RCV000149809; NMONDO:MONDO:0013937,MedGen:C3553948,OMIM:614871, Orphanet:44123401542340154AGA1:g.2340154_2340154delClinGen:CA175036,OMIM:602859.0007C3553948 614871 Peroxisome biogenesis disorder 6B;
NM_002617.4(PEX10):c.291A>G (p.Thr97=)5192PEX10Benignrs2494598RCV000117902|RCV000326499|RCV000676046|RCV001273140|RCV001523636|RCV001537790; NMedGen:CN169374|MONDO:MONDO:0013936,MedGen:C3553947,OMIM:614870, Orphanet:912|MedGen:CN517202|MONDO:MONDO:0019609,MedGen:C0043459, Orphanet:912|MedGen:C1864399|MONDO:MONDO:0013937,MedGen:C3553948,OMIM:614871, Orphanet:44123402002340200TC1:g.2340200T>CClinGen:CA154233CN517202 not provided;
NM_002617.4(PEX10):c.279C>T (p.Gly93=)5192PEX10Benignrs1143016RCV000117901|RCV000267822|RCV001513480|RCV001537791|RCV001719868|RCV001831910; NMedGen:CN169374|MONDO:MONDO:0013936,MedGen:C3553947,OMIM:614870, Orphanet:912|MedGen:C1864399|MONDO:MONDO:0013937,MedGen:C3553948,OMIM:614871, Orphanet:44|MedGen:CN517202|MONDO:MONDO:0019609,MedGen:C0043459, Orphanet:912123402122340212GA1:g.2340212G>AClinGen:CA154231CN169374 not specified;
NM_002617.4(PEX10):c.275G>A (p.Arg92His)5192PEX10Uncertain significancers375649043RCV000320556|RCV000669741|RCV001243663|RCV001833420; NMONDO:MONDO:0013936,MedGen:C3553947,OMIM:614870, Orphanet:912|MONDO:MONDO:0013936,MedGen:C3553947,OMIM:614870, Orphanet:912; MONDO:MONDO:0013937,MedGen:C3553948,OMIM:614871, Orphanet:44|MedGen:C1864399|MONDO:MONDO:0019609,MedGen:C0043459, Orphanet:912123402162340216CTNC_000001.10:g.2340216C>TClinGen:CA538227C3553947 614870 Peroxisome biogenesis disorder 6A;
NM_002617.4(PEX10):c.233A>G (p.Gln78Arg)5192PEX10Uncertain significancers766966222RCV000671863; NMONDO:MONDO:0013936,MedGen:C3553947,OMIM:614870, Orphanet:912; MONDO:MONDO:0013937,MedGen:C3553948,OMIM:614871, Orphanet:44123402582340258TC1:g.2340258T>C-C3553947 614870 Peroxisome biogenesis disorder 6A;
NM_002617.4(PEX10):c.211G>A (p.Glu71Lys)5192PEX10Uncertain significancers1291325133RCV000673764; NMONDO:MONDO:0013937,MedGen:C3553948,OMIM:614871, Orphanet:44; MONDO:MONDO:0013936,MedGen:C3553947,OMIM:614870, Orphanet:912123402802340280CT1:g.2340280C>T-C3553947 614870 Peroxisome biogenesis disorder 6A;
NM_002617.4(PEX10):c.113-1G>A5192PEX10Likely pathogenicrs867305222RCV000668368; NMONDO:MONDO:0013936,MedGen:C3553947,OMIM:614870, Orphanet:912; MONDO:MONDO:0013937,MedGen:C3553948,OMIM:614871, Orphanet:44123418912341891CT1:g.2341891C>T-C3553947 614870 Peroxisome biogenesis disorder 6A;
NM_002617.4(PEX10):c.98T>G (p.Leu33Arg)5192PEX10Uncertain significancers1643271090RCV001090128; NMONDO:MONDO:0013937,MedGen:C3553948,OMIM:614871, Orphanet:44123438442343844AC1:g.2343844A>C-
NM_002617.4(PEX10):c.26del (p.Pro9fs)5192PEX10Likely pathogenicrs1553232917RCV000671772; NMONDO:MONDO:0013936,MedGen:C3553947,OMIM:614870, Orphanet:912; MONDO:MONDO:0013937,MedGen:C3553948,OMIM:614871, Orphanet:44123439162343916CGC1:g.2343916_2343916del-C3553947 614870 Peroxisome biogenesis disorder 6A;
NM_002617.4(PEX10):c.20del (p.Ser7fs)5192PEX10Likely pathogenicrs1553232926RCV000670331; NMONDO:MONDO:0013936,MedGen:C3553947,OMIM:614870, Orphanet:912; MONDO:MONDO:0013937,MedGen:C3553948,OMIM:614871, Orphanet:44123439222343922GCG1:g.2343922_2343922del-C3553947 614870 Peroxisome biogenesis disorder 6A;
NM_002617.4(PEX10):c.4del (p.Ala2fs)5192PEX10Pathogenicrs62636524RCV000520897|RCV000665998|RCV001290599|RCV001273141|RCV001386846; NMedGen:CN517202|MONDO:MONDO:0013937,MedGen:C3553948,OMIM:614871, Orphanet:44|MONDO:MONDO:0019234,MedGen:C1832200,OMIM:PS214100, Orphanet:79189|MONDO:MONDO:0019609,MedGen:C0043459, Orphanet:912|MedGen:C1864399123439382343938GCGNC_000001.10:g.2343939delClinGen:CA538319CN517202 not provided;
NM_002617.4(PEX10):c.2T>C (p.Met1Thr)5192PEX10Pathogenicrs724160002RCV000149812|RCV000665679|RCV001850029; NMONDO:MONDO:0013937,MedGen:C3553948,OMIM:614871, Orphanet:44|MONDO:MONDO:0013936,MedGen:C3553947,OMIM:614870, Orphanet:912; MONDO:MONDO:0013937,MedGen:C3553948,OMIM:614871, Orphanet:44|MedGen:C1864399123439402343940AGNC_000001.10:g.2343940A>GClinGen:CA175040,OMIM:602859.0010C3553947 614870 Peroxisome biogenesis disorder 6A;
NM_002617.4(PEX10):c.1A>G (p.Met1Val)5192PEX10Pathogenic/Likely pathogenicrs886041314RCV000341916|RCV000666568|RCV001385998|RCV001828171; NMedGen:CN517202|MONDO:MONDO:0013936,MedGen:C3553947,OMIM:614870, Orphanet:912; MONDO:MONDO:0013937,MedGen:C3553948,OMIM:614871, Orphanet:44|MedGen:C1864399|MONDO:MONDO:0019609,MedGen:C0043459, Orphanet:912123439412343941TC1:g.2343941T>CClinGen:CA10602763CN517202 not provided;
MSeqDR Portal