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Chondrodysplasia Punctata, Rhizomelic (D018902)
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Rhizomelic chondrodysplasia punctata, type 1 (C531651)

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..expandRhizomelic chondrodysplasia punctata, type 1 (C531651)
..expandRhizomelic chondrodysplasia punctata, type 2 (C537607)
..expandRhizomelic chondrodysplasia punctata, type 3 (C537608)
..expandRHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5 (OMIM:616716)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:10839
Name:Rhizomelic chondrodysplasia punctata, type 1
Definition:
Alternative IDs:OMIM:215100
ParentIDs:MESH:D018902
TreeNumbers:C05.116.099.708.195.200/C531651 |C16.320.565.663.265/C531651 |C18.452.648.663.265/C531651
Synonyms:CDPR |CHONDRODYSPLASIA PUNCTATA, RHIZOMELIC FORM |Chondrodystrophia calcificans punctata |PBD9 |PEROXISOME BIOGENESIS DISORDER 9 |RCDP1
Slim Mappings:Genetic disease (inborn)|Metabolic disease|Musculoskeletal disease
Reference: MedGen: C531651
MeSH: C531651
OMIM: 215100;
MSeqDR LSDB:  
Genes: PEX7; SLC22A5;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0001939Abnormality of metabolism/homeostasis
3 HP:0001596Alopecia
4 HP:0005841Calcific stippling of infantile cartilaginous skeleton
5 HP:0002120Cerebral cortical atrophy
6 HP:0000175Cleft palate
7 HP:0000519Congenital cataract
8 HP:0003417Coronal cleft vertebrae
9 HP:0002188Delayed CNS myelination
10 HP:0005280Depressed nasal bridge
11 HP:0010655Epiphyseal stippling
12 HP:0003015Flared metaphysis
13 HP:0012368Flat face
14 HP:0001371Flexion contracture
15 HP:0002007Frontal bossing
16 HP:0008064Ichthyosis
17 HP:0001249Intellectual disability
18 HP:0002751Kyphoscoliosis
19 HP:0000272Malar flattening
20 HP:0000252Microcephaly
21 HP:0000347Micrognathia
22 HP:0002093Respiratory insufficiency
23 HP:0008905Rhizomelia
24 HP:0001250Seizures
NAMDC:  Seizures
25 HP:0000407Sensorineural hearing impairment
NAMDC:  Sensorineural hearing loss
26 HP:0001525Severe failure to thrive
27 HP:0003510Severe short stature
28 HP:0001257Spasticity
NAMDC:  Spasticity
29 HP:0000582Upslanted palpebral fissure
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_000288.4(PEX7):c.-95T>C5191PEX7Benign1321471RCV000834249|RCV001543966|RCV001543967; NMedGen:C3661900|MONDO:MONDO:0013945,MedGen:C2749346,OMIM:614879, Orphanet:773|MONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:30978961371437091371437096:g.137143709T>C-
NM_000288.4(PEX7):c.-69C>A5191PEX7Uncertain significance528948146RCV001151884|RCV001151885; NMONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:309789|MONDO:MONDO:0013945,MedGen:C2749346,OMIM:614879, Orphanet:77361371437351371437356:g.137143735C>A-
NM_000288.4(PEX7):c.-65A>T5191PEX7Benign/Likely benign190537612RCV001151887|RCV001151886|RCV001570476; NMONDO:MONDO:0013945,MedGen:C2749346,OMIM:614879, Orphanet:773|MONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:309789|MedGen:C366190061371437391371437396:g.137143739A>T-
NM_000288.4(PEX7):c.-56C>T5191PEX7Benign73777751RCV000300626|RCV000336760|RCV000676101|RCV001275001; NMONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:309789|MONDO:MONDO:0013945,MedGen:C2749346,OMIM:614879, Orphanet:773|MedGen:C3661900|MONDO:MONDO:0015776,MedGen:C0282529,OMIM:PS215100, Orphanet:17761371437481371437486:g.137143748C>TClinGen:CA10625880CN517202 not provided;
NM_000288.4(PEX7):c.-46_-38dup5191PEX7Uncertain significance1554328233RCV000674306; NMONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:30978961371437571371437586:g.137143757_137143758insACGGCTTCC-C1859133 215100 Rhizomelic chondrodysplasia punctata type 1;
NM_000288.4(PEX7):c.-35G>A5191PEX7Uncertain significance886061116RCV000310937|RCV000392362; NMONDO:MONDO:0013945,MedGen:C2749346,OMIM:614879, Orphanet:773|MONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:30978961371437691371437696:g.137143769G>AClinGen:CA10625881C0034960 266500 Phytanic acid storage disease;
NM_000288.4(PEX7):c.-31G>A5191PEX7Benign/Likely benign115866467RCV000242739|RCV000275755|RCV000370255|RCV001275002; NMedGen:CN169374|MONDO:MONDO:0013945,MedGen:C2749346,OMIM:614879, Orphanet:773|MONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:309789|MONDO:MONDO:0015776,MedGen:C0282529,OMIM:PS215100, Orphanet:1776137143773137143773NC_000006.11:g.137143773G>AClinGen:CA4017476CN169374 not specified;
NM_000288.4(PEX7):c.-28G>A5191PEX7Uncertain significance376808803RCV000307519|RCV000362545; NMONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:309789|MONDO:MONDO:0013945,MedGen:C2749346,OMIM:614879, Orphanet:77361371437761371437766:g.137143776G>AClinGen:CA10621513C0034960 266500 Phytanic acid storage disease;
NM_000288.4(PEX7):c.-18C>T5191PEX7Uncertain significance991168664RCV001153127|RCV001153128; NMONDO:MONDO:0013945,MedGen:C2749346,OMIM:614879, Orphanet:773|MONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:30978961371437861371437866:g.137143786C>T-
NM_000288.4(PEX7):c.-3G>A5191PEX7Uncertain significance886061117RCV000272554|RCV000665793; NMONDO:MONDO:0013945,MedGen:C2749346,OMIM:614879, Orphanet:773|MONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:30978961371438011371438016:g.137143801G>AClinGen:CA10625885C0034960 266500 Phytanic acid storage disease;
NM_000288.4(PEX7):c.13_19dup (p.Gly7fs)5191PEX7Pathogenic/Likely pathogenic62636519RCV000008232|RCV000411594|RCV001828372; NMONDO:MONDO:0013945,MedGen:C2749346,OMIM:614879, Orphanet:773|MONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:309789|MONDO:MONDO:0015776,MedGen:C0282529,OMIM:PS215100, Orphanet:1776137143807137143808NC_000006.11:g.137143816_137143822dupTGCGGTGClinGen:CA119077,OMIM:601757.0010CN159238 614879 Peroxisome biogenesis disorder 9B;
NM_000288.4(PEX7):c.31_56del (p.Met11fs)5191PEX7Likely pathogenic1057516961RCV000409296; NMONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:30978961371438311371438566:g.137143831_137143856delClinGen:CA16041008C1859133 215100 Rhizomelic chondrodysplasia punctata type 1;
NM_000288.4(PEX7):c.37_45dup (p.Arg13_Pro15dup)5191PEX7Uncertain significance1554328282RCV000672246; NMONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:30978961371438381371438396:g.137143838_137143839insGCGGACGCC-C1859133 215100 Rhizomelic chondrodysplasia punctata type 1;
NM_000288.4(PEX7):c.45_52dup (p.His18fs)5191PEX7Pathogenic63535662RCV000008226|RCV000032589; NMONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:309789|MONDO:MONDO:0013945,MedGen:C2749346,OMIM:614879, Orphanet:77361371438401371438416:g.137143840_137143841insGGACGCCGClinGen:CA130256,OMIM:601757.0005CN159238 614879 Peroxisome biogenesis disorder 9B;
NM_000288.4(PEX7):c.38G>A (p.Arg13Gln)5191PEX7Uncertain significance1220044805RCV001578662|RCV001578661|RCV002368604; NMONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:309789|MONDO:MONDO:0013945,MedGen:C2749346,OMIM:614879, Orphanet:773|MeSH:D030342,MedGen:C09501236137143841137143841137143841-
NM_000288.4(PEX7):c.40A>C (p.Thr14Pro)5191PEX7Pathogenic61753233RCV000008233|RCV000032117; NMONDO:MONDO:0013945,MedGen:C2749346,OMIM:614879, Orphanet:773|MONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:30978961371438431371438436:g.137143843A>CClinGen:CA119078,UniProtKB:O00628#VAR_016810,OMIM:601757.0011CN159238 614879 Peroxisome biogenesis disorder 9B;
NM_000288.4(PEX7):c.46_47del (p.Gly16fs)5191PEX7Likely pathogenic-1RCV002306550; NMONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:3097896137143848137143849137143847-
NM_000288.4(PEX7):c.60C>G (p.Tyr20Ter)5191PEX7Likely pathogenic1057516882RCV000411102; NMONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:30978961371438631371438636:g.137143863C>GClinGen:CA16041009C1859133 215100 Rhizomelic chondrodysplasia punctata type 1;
NM_000288.4(PEX7):c.74C>T (p.Ser25Phe)5191PEX7Conflicting interpretations of pathogenicity61753236RCV000169280|RCV000654914; NMONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:309789|MONDO:MONDO:0013945,MedGen:C2749346,OMIM:614879, Orphanet:77361371438771371438776:g.137143877C>TClinGen:CA274123CN159238 614879 Peroxisome biogenesis disorder 9B;
NM_000288.4(PEX7):c.81C>G (p.Tyr27Ter)5191PEX7Likely pathogenic1057516737RCV000411754; NMONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:30978961371438841371438846:g.137143884C>GClinGen:CA16041010C1859133 215100 Rhizomelic chondrodysplasia punctata type 1;
NM_000288.4(PEX7):c.86C>T (p.Pro29Leu)5191PEX7Uncertain significance757852291RCV000597849|RCV000765866|RCV001058802|RCV001275003|RCV002532401; NMedGen:CN517202|MONDO:MONDO:0013945,MedGen:C2749346,OMIM:614879, Orphanet:773; MONDO:MONDO:0009958,MedGen:C0034960,OMIM:266500, Orphanet:773; MONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:309789|MONDO:MONDO:0013945,MedGen:C2749346,OM61371438891371438896:g.137143889C>TClinGen:CA4017482CN169374 not specified;
NM_000288.4(PEX7):c.94C>T (p.Leu32=)5191PEX7Conflicting interpretations of pathogenicity886061118RCV000377520|RCV000593941|RCV001086124|RCV001833471; NMONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:309789|MedGen:C3661900|MONDO:MONDO:0013945,MedGen:C2749346,OMIM:614879, Orphanet:773|MONDO:MONDO:0015776,MedGen:C0282529,OMIM:PS215100, Orphanet:17761371438971371438976:g.137143897C>TClinGen:CA10623035CN169374 not specified;
NM_000288.4(PEX7):c.96G>A (p.Leu32=)5191PEX7Likely benign1397119638RCV000613681|RCV001274734|RCV002529518; NMedGen:CN169374|MONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:309789|MONDO:MONDO:0013945,MedGen:C2749346,OMIM:614879, Orphanet:77361371438991371438996:g.137143899G>AClinGen:CA452374720CN169374 not specified;
NM_000288.4(PEX7):c.116A>C (p.His39Pro)5191PEX7Likely pathogenic61753237RCV001004174|RCV003473544; NMONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:309789|MONDO:MONDO:0013945,MedGen:C2749346,OMIM:614879, Orphanet:77361371439191371439196:g.137143919A>C-
NM_000288.4(PEX7):c.120C>G (p.Tyr40Ter)5191PEX7Pathogenic61753238RCV000008230|RCV000147254|RCV000324320|RCV000763558|RCV001826454|RCV002512898|RCV003137500; NMONDO:MONDO:0013945,MedGen:C2749346,OMIM:614879, Orphanet:773|MONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:309789|MedGen:CN239409|MONDO:MONDO:0013945,MedGen:C2749346,OMIM:614879, Orphanet:773; MONDO:MONDO:0008972,MedGen:C1859133,OM61371439231371439236:g.137143923C>GClinGen:CA119075,OMIM:601757.0009CN159238 614879 Peroxisome biogenesis disorder 9B;
NM_000288.4(PEX7):c.122G>T (p.Gly41Val)5191PEX7Uncertain significance61753239RCV000672240; NMONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:30978961371439251371439256:g.137143925G>T-C1859133 215100 Rhizomelic chondrodysplasia punctata type 1;
NM_000288.4(PEX7):c.122_123del (p.Gly41fs)5191PEX7Likely pathogenic-1RCV002307294; NMONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:3097896137143925137143926137143924-
NM_000288.4(PEX7):c.128C>T (p.Ala43Val)5191PEX7Conflicting interpretations of pathogenicity780369944RCV001054440|RCV001274735|RCV002276603|RCV003339446; NMONDO:MONDO:0013945,MedGen:C2749346,OMIM:614879, Orphanet:773|MONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:309789|MONDO:MONDO:0003900,MedGen:C0009782|MeSH:D030342,MedGen:C095012361371439311371439316:g.137143931C>T-
NM_000288.4(PEX7):c.129G>C (p.Ala43=)5191PEX7Uncertain significance1256466654RCV001307840|RCV001835506|RCV002476419; NMONDO:MONDO:0013945,MedGen:C2749346,OMIM:614879, Orphanet:773|MONDO:MONDO:0015776,MedGen:C0282529,OMIM:PS215100, Orphanet:177|MONDO:MONDO:0009958,MedGen:C0034960,OMIM:266500, Orphanet:773; MONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177,Orphane6137143932137143932137143932-
NM_000288.4(PEX7):c.130+1G>C5191PEX7Likely pathogenic267608253RCV000409059; NMONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:30978961371439341371439346:g.137143934G>CClinGen:CA16041011C1859133 215100 Rhizomelic chondrodysplasia punctata type 1;
NM_000288.4(PEX7):c.130+1G>A5191PEX7Pathogenic267608253RCV000792527|RCV001004175; NMONDO:MONDO:0013945,MedGen:C2749346,OMIM:614879, Orphanet:773|MONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:30978961371439341371439346:g.137143934G>A-
NM_000288.4(PEX7):c.130+11G>T5191PEX7Uncertain significance886061119RCV000279742|RCV000378803; NMONDO:MONDO:0013945,MedGen:C2749346,OMIM:614879, Orphanet:773|MONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:30978961371439441371439446:g.137143944G>TClinGen:CA10623037C0034960 266500 Phytanic acid storage disease;
NM_000288.4(PEX7):c.130+13C>A5191PEX7Conflicting interpretations of pathogenicity886061120RCV000338400|RCV000374317; NMONDO:MONDO:0013945,MedGen:C2749346,OMIM:614879, Orphanet:773|MONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:30978961371439461371439466:g.137143946C>AClinGen:CA10623038C0034960 266500 Phytanic acid storage disease;
NM_000288.4(PEX7):c.130+32_130+51del5191PEX7Likely benign1554328334RCV000673999; NMONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:30978961371439611371439806:g.137143961_137143980del-C1859133 215100 Rhizomelic chondrodysplasia punctata type 1;
NM_000288.4(PEX7):c.130+48_130+53dup5191PEX7Benign11283064RCV001027952|RCV001788400|RCV001673006|RCV001788401; NMONDO:MONDO:0015776,MedGen:C0282529,OMIM:PS215100, Orphanet:177|MONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:309789|MedGen:C3661900|MONDO:MONDO:0013945,MedGen:C2749346,OMIM:614879, Orphanet:77361371439801371439816:g.137143980_137143981insGGGGCC-
NM_000288.4(PEX7):c.131-2A>G5191PEX7Likely pathogenic1554328790RCV000668712; NMONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:30978961371463501371463506:g.137146350A>G-C1859133 215100 Rhizomelic chondrodysplasia punctata type 1;
NM_000288.4(PEX7):c.183del (p.Phe61fs)5191PEX7Pathogenic/Likely pathogenic774131564RCV000490306|RCV001004176|RCV001043666; NMONDO:MONDO:0013945,MedGen:C2749346,OMIM:614879, Orphanet:773; MONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:309789|MONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:309789|MONDO:MONDO:0013945,MedGen:C2749346,OM61371464001371464006:g.137146400_137146400delClinGen:CA4017507CN159238 614879 Peroxisome biogenesis disorder 9B;
NM_000288.4(PEX7):c.188+1G>C5191PEX7Pathogenic/Likely pathogenic267608254RCV000169353|RCV001068245|RCV002485052|RCV003233479; NMONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:309789|MONDO:MONDO:0013945,MedGen:C2749346,OMIM:614879, Orphanet:773|MONDO:MONDO:0009958,MedGen:C0034960,OMIM:266500, Orphanet:773; MONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100,Orphan61371464101371464106:g.137146410G>CClinGen:CA274207C1859133 215100 Rhizomelic chondrodysplasia punctata type 1;
NM_000288.4(PEX7):c.188+1G>A5191PEX7Pathogenic/Likely pathogenic267608254RCV001004177|RCV002549235; NMONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:309789|MONDO:MONDO:0013945,MedGen:C2749346,OMIM:614879, Orphanet:77361371464101371464106:g.137146410G>A-
NM_000288.4(PEX7):c.188+3A>G5191PEX7Uncertain significance200234391RCV000293982|RCV000348944|RCV000595599|RCV001252341; NMONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:309789|MONDO:MONDO:0013945,MedGen:C2749346,OMIM:614879, Orphanet:773|MedGen:C3661900|Human Phenotype Ontology:HP:0000730,Human Phenotype Ontology:HP:0001249,Human Phenotype Ontology:HP6137146412137146412NC_000006.11:g.137146412A>GClinGen:CA4017510CN169374 not specified;
NM_000288.4(PEX7):c.189-2A>G5191PEX7Likely pathogenic1554328952RCV000671094; NMONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:30978961371474551371474556:g.137147455A>G-C1859133 215100 Rhizomelic chondrodysplasia punctata type 1;
NM_000288.4(PEX7):c.206del (p.Gly69fs)5191PEX7Likely pathogenic-1RCV002309495; NMONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:3097896137147473137147473137147472-
NM_000288.4(PEX7):c.225G>C (p.Trp75Cys)5191PEX7Uncertain significance1554328961RCV000665024; NMONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:30978961371474931371474936:g.137147493G>C-C1859133 215100 Rhizomelic chondrodysplasia punctata type 1;
NM_000288.4(PEX7):c.233del (p.Asn78fs)5191PEX7Likely pathogenic1582732852RCV001004178; NMONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:30978961371475001371475006:g.137147500_137147500del-
NM_000288.4(PEX7):c.277C>T (p.Gln93Ter)5191PEX7Pathogenic/Likely pathogenic763514968RCV000409536|RCV001387967|RCV001828373|RCV002278634|RCV002502423; NMONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:309789|MONDO:MONDO:0013945,MedGen:C2749346,OMIM:614879, Orphanet:773|MONDO:MONDO:0015776,MedGen:C0282529,OMIM:PS215100, Orphanet:177|MONDO:MONDO:0003900,MedGen:C0009782|MONDO:MONDO:001361371475451371475456:g.137147545C>TClinGen:CA4017545C1859133 215100 Rhizomelic chondrodysplasia punctata type 1;
NM_000288.4(PEX7):c.294del (p.Ala100fs)5191PEX7Pathogenic1456007349RCV001822980; NMONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:3097896137147561137147561137147560-
NM_000288.4(PEX7):c.297del (p.Ala100fs)5191PEX7Likely pathogenic-1RCV002310416; NMONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:3097896137147563137147563137147562-
NM_000288.4(PEX7):c.316G>C (p.Val106Leu)5191PEX7Uncertain significance886061121RCV000313608|RCV000393508|RCV000591536; NMONDO:MONDO:0013945,MedGen:C2749346,OMIM:614879, Orphanet:773|MONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:309789|MedGen:CN5172026137147584137147584NC_000006.11:g.137147584G>CClinGen:CA10626099CN169374 not specified;
NM_000288.4(PEX7):c.323_324del (p.Lys108fs)5191PEX7Likely pathogenic-1RCV002306477; NMONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:3097896137147590137147591137147589-
NM_000288.4(PEX7):c.330C>T (p.His110=)5191PEX7Conflicting interpretations of pathogenicity199648976RCV000366386|RCV001088047|RCV001274736; NMedGen:C3661900|MONDO:MONDO:0013945,MedGen:C2749346,OMIM:614879, Orphanet:773|MONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:30978961371475981371475986:g.137147598C>TClinGen:CA4017551CN169374 not specified;
NM_000288.4(PEX7):c.334C>T (p.Gln112Ter)5191PEX7Pathogenic/Likely pathogenic62653604RCV000411360|RCV003475974; NMONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:309789|MONDO:MONDO:0013945,MedGen:C2749346,OMIM:614879, Orphanet:77361371476021371476026:g.137147602C>TClinGen:CA16041012C1859133 215100 Rhizomelic chondrodysplasia punctata type 1;
NM_000288.4(PEX7):c.339+2T>C5191PEX7Pathogenic/Likely pathogenic1057517059RCV000409658|RCV002275036; NMONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:309789|MedGen:C36619006137147609137147609NC_000006.11:g.137147609T>CClinGen:CA16041013C1859133 215100 Rhizomelic chondrodysplasia punctata type 1;
NM_000288.4(PEX7):c.339+10A>G5191PEX7Conflicting interpretations of pathogenicity374668045RCV000367539|RCV000726667|RCV001274737|RCV001521874; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:309789|MONDO:MONDO:0013945,MedGen:C2749346,OMIM:614879, Orphanet:77361371476171371476176:g.137147617A>GClinGen:CA4017556CN169374 not specified;
NM_000288.4(PEX7):c.340-103A>G5191PEX7Benign/Likely benign2295592RCV001543968|RCV001543969|RCV001655853; NMONDO:MONDO:0013945,MedGen:C2749346,OMIM:614879, Orphanet:773|MONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:309789|MedGen:C36619006137166650137166650137166650-
NM_000288.4(PEX7):c.340-71G>A5191PEX7Benign927181RCV000987791|RCV001543970|RCV001683706; NMONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:309789|MONDO:MONDO:0013945,MedGen:C2749346,OMIM:614879, Orphanet:773|MedGen:C366190061371666821371666826:g.137166682G>A-
NM_000288.4(PEX7):c.340-10A>G5191PEX7Conflicting interpretations of pathogenicity267608255RCV000008229|RCV000032116|RCV000393497|RCV000731239; NMONDO:MONDO:0013945,MedGen:C2749346,OMIM:614879, Orphanet:773|MONDO:MONDO:0009958,MedGen:C0034960,OMIM:266500, Orphanet:773|MONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:309789|MedGen:C366190061371667431371667436:g.137166743A>GClinGen:CA119074,OMIM:601757.0008CN159238 614879 Peroxisome biogenesis disorder 9B;
NM_000288.4(PEX7):c.345T>G (p.Tyr115Ter)5191PEX7Pathogenic/Likely pathogenic121909154RCV000008228|RCV000411170|RCV001826453; NMONDO:MONDO:0013945,MedGen:C2749346,OMIM:614879, Orphanet:773|MONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:309789|MONDO:MONDO:0015776,MedGen:C0282529,OMIM:PS215100, Orphanet:17761371667581371667586:g.137166758T>GClinGen:CA119072,OMIM:601757.0007CN159238 614879 Peroxisome biogenesis disorder 9B;
NM_000288.4(PEX7):c.357G>A (p.Trp119Ter)5191PEX7Pathogenic1554331461RCV000500982; NMONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:3097896137166770137166770NC_000006.11:g.137166770G>AClinGen:CA365856717C1859133 215100 Rhizomelic chondrodysplasia punctata type 1;
NM_000288.4(PEX7):c.373G>T (p.Glu125Ter)5191PEX7Likely pathogenic769137963RCV000670069; NMONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:30978961371667861371667866:g.137166786G>T-C1859133 215100 Rhizomelic chondrodysplasia punctata type 1;
NM_000288.4(PEX7):c.376C>T (p.Gln126Ter)5191PEX7Pathogenic/Likely pathogenic2115170536RCV001825096|RCV002034680; NMONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:309789|MONDO:MONDO:0013945,MedGen:C2749346,OMIM:614879, Orphanet:7736137166789137166789137166789-
NM_000288.4(PEX7):c.377A>C (p.Gln126Pro)5191PEX7Benign/Likely benign113268723RCV000245920|RCV000433096|RCV000755647|RCV001080687|RCV001157438|RCV001833264|RCV002277607; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0013945,MedGen:C2749346,OMIM:614879, Orphanet:773; MONDO:MONDO:0009958,MedGen:C0034960,OMIM:266500, Orphanet:773; MONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:309789|MONDO:MONDO:0013945,Me6137166790137166790NC_000006.11:g.137166790A>CClinGen:CA4017586CN517202 not provided;
NM_000288.4(PEX7):c.400G>A (p.Asp134Asn)5191PEX7Likely pathogenic764346452RCV000169000|RCV003474894; NMONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:309789|MONDO:MONDO:0013945,MedGen:C2749346,OMIM:614879, Orphanet:77361371668131371668136:g.137166813G>AClinGen:CA273876C1859133 215100 Rhizomelic chondrodysplasia punctata type 1;
NM_000288.4(PEX7):c.418-4G>T5191PEX7Conflicting interpretations of pathogenicity199552223RCV000309986|RCV000598492|RCV001080653; NMONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:309789|MedGen:C3661900|MONDO:MONDO:0013945,MedGen:C2749346,OMIM:614879, Orphanet:7736137167207137167207NC_000006.11:g.137167207G>TClinGen:CA4017610CN169374 not specified;
NM_000288.4(PEX7):c.418-1G>A5191PEX7Likely pathogenic773406384RCV002271879; NMONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:3097896137167210137167210137167210-
NM_000288.4(PEX7):c.429del (p.Val144fs)5191PEX7Pathogenic/Likely pathogenic61753248RCV000670475|RCV000809601|RCV001275004; NMONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:309789|MONDO:MONDO:0013945,MedGen:C2749346,OMIM:614879, Orphanet:773|MONDO:MONDO:0015776,MedGen:C0282529,OMIM:PS215100, Orphanet:1776137167222137167222NC_000006.11:g.137167222del-C1859133 215100 Rhizomelic chondrodysplasia punctata type 1;
NM_000288.4(PEX7):c.449C>T (p.Thr150Ile)5191PEX7Uncertain significance957954726RCV001280376; NMONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:30978961371672421371672426:g.137167242C>T-
NM_000288.4(PEX7):c.463G>T (p.Glu155Ter)5191PEX7Likely pathogenic-1RCV002308279; NMONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:3097896137167256137167256137167256-
NM_000288.4(PEX7):c.490T>C (p.Ser164Pro)5191PEX7Uncertain significance62653607RCV000667040|RCV003387904; NMONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:309789|MedGen:CN16937461371672831371672836:g.137167283T>C-C1859133 215100 Rhizomelic chondrodysplasia punctata type 1;
NM_000288.4(PEX7):c.496C>T (p.His166Tyr)5191PEX7Uncertain significance1219430310RCV001157439|RCV001157440; NMONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:309789|MONDO:MONDO:0013945,MedGen:C2749346,OMIM:614879, Orphanet:77361371672891371672896:g.137167289C>T-
NM_000288.4(PEX7):c.508del (p.Cys170fs)5191PEX7Pathogenic/Likely pathogenic1057516827RCV000411123|RCV002523861; NMONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:309789|MONDO:MONDO:0013945,MedGen:C2749346,OMIM:614879, Orphanet:77361371673001371673006:g.137167300_137167300delClinGen:CA16041014C1859133 215100 Rhizomelic chondrodysplasia punctata type 1;
NM_000288.4(PEX7):c.527-2A>G5191PEX7Likely pathogenic1057517339RCV000411178; NMONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:3097896137187763137187763NC_000006.11:g.137187763A>GClinGen:CA16041015C1859133 215100 Rhizomelic chondrodysplasia punctata type 1;
NM_000288.4(PEX7):c.538_539del (p.Leu180fs)5191PEX7Likely pathogenic1582757650RCV001004179|RCV003473545; NMONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:309789|MONDO:MONDO:0013945,MedGen:C2749346,OMIM:614879, Orphanet:77361371877741371877756:g.137187774_137187775del-
NM_000288.4(PEX7):c.538del (p.Thr179_Leu180insTer)5191PEX7Pathogenic1554333636RCV000499989; NMONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:3097896137187776137187776NC_000006.11:g.137187776delClinGen:CA645372434C1859133 215100 Rhizomelic chondrodysplasia punctata type 1;
NM_000288.4(PEX7):c.545dup (p.Trp183fs)5191PEX7Likely pathogenic1057516574RCV000411675; NMONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:30978961371877821371877836:g.137187782_137187783insTClinGen:CA16041016C1859133 215100 Rhizomelic chondrodysplasia punctata type 1;
NM_000288.4(PEX7):c.554T>C (p.Val185Ala)5191PEX7Uncertain significance1424846175RCV001151968|RCV001151969|RCV002497572; NMONDO:MONDO:0013945,MedGen:C2749346,OMIM:614879, Orphanet:773|MONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:309789|MONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:309789; MONDO:MONDO:0013945,MedGen:C2749346,OM61371877921371877926:g.137187792T>C-
NM_000288.4(PEX7):c.576C>T (p.Ile192=)5191PEX7Conflicting interpretations of pathogenicity776411851RCV000179285|RCV000265395|RCV000301749; NMedGen:C3661900|MONDO:MONDO:0013945,MedGen:C2749346,OMIM:614879, Orphanet:773|MONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:30978961371878141371878146:g.137187814C>TClinGen:CA246556CN169374 not specified;
NM_000288.4(PEX7):c.592C>T (p.Gln198Ter)5191PEX7Pathogenic/Likely pathogenic764924345RCV001004180|RCV001234064; NMONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:309789|MONDO:MONDO:0013945,MedGen:C2749346,OMIM:614879, Orphanet:77361371878301371878306:g.137187830C>T-
NM_000288.4(PEX7):c.615C>T (p.Asp205=)5191PEX7Conflicting interpretations of pathogenicity147298444RCV000360999|RCV000593142|RCV000887799|RCV001727703|RCV002356486; NMONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:309789|MedGen:CN169374|MONDO:MONDO:0013945,MedGen:C2749346,OMIM:614879, Orphanet:773|MedGen:C3661900|MeSH:D030342,MedGen:C09501236137187853137187853NC_000006.11:g.137187853C>TClinGen:CA4017665CN169374 not specified;
NM_000288.4(PEX7):c.618G>A (p.Trp206Ter)5191PEX7Pathogenic/Likely pathogenic61753245RCV000169479|RCV000578930|RCV001380052; NMONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:309789|MedGen:C3661900|MONDO:MONDO:0013945,MedGen:C2749346,OMIM:614879, Orphanet:77361371878561371878566:g.137187856G>AClinGen:CA274350CN517202 not provided;
NM_000288.4(PEX7):c.622A>T (p.Lys208Ter)5191PEX7Likely pathogenic-1RCV002306468; NMONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:3097896137187860137187860137187860-
NM_000288.4(PEX7):c.633+1G>A5191PEX7Likely pathogenic1057516989RCV000411695|RCV001861385; NMONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:309789|MONDO:MONDO:0013945,MedGen:C2749346,OMIM:614879, Orphanet:7736137187872137187872NC_000006.11:g.137187872G>AClinGen:CA16041017C1859133 215100 Rhizomelic chondrodysplasia punctata type 1;
NM_000288.4(PEX7):c.638dup (p.Leu213fs)5191PEX7Likely pathogenic-1RCV002307134; NMONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:3097896137191029137191030137191029-
NM_000288.4(PEX7):c.641T>C (p.Leu214Pro)5191PEX7Conflicting interpretations of pathogenicity1554333880RCV000502761|RCV001865618; NMONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:309789|MONDO:MONDO:0013945,MedGen:C2749346,OMIM:614879, Orphanet:7736137191035137191035NC_000006.11:g.137191035T>CClinGen:CA365763942C1859133 215100 Rhizomelic chondrodysplasia punctata type 1;
NM_000288.4(PEX7):c.649G>A (p.Gly217Arg)5191PEX7Pathogenic/Likely pathogenic121909152RCV000008224|RCV000454287|RCV001509294|RCV001831556|RCV002512897; NMONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:309789|MONDO:MONDO:0013945,MedGen:C2749346,OMIM:614879, Orphanet:773|MedGen:C3661900|MONDO:MONDO:0015776,MedGen:C0282529,OMIM:PS215100, Orphanet:177|MeSH:D030342,MedGen:C095012361371910431371910436:g.137191043G>AClinGen:CA340700,UniProtKB:O00628#VAR_007725,OMIM:601757.0003CN159238 614879 Peroxisome biogenesis disorder 9B;
NM_000288.4(PEX7):c.653C>T (p.Ala218Val)5191PEX7Pathogenic/Likely pathogenic121909151RCV000008223|RCV000032925|RCV000656252|RCV001831555|RCV002504768; NMONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:309789|MONDO:MONDO:0013945,MedGen:C2749346,OMIM:614879, Orphanet:773|MedGen:C3661900|MONDO:MONDO:0015776,MedGen:C0282529,OMIM:PS215100, Orphanet:177|MONDO:MONDO:0013945,MedGen:C2749346,61371910471371910476:g.137191047C>TClinGen:CA130482,UniProtKB:O00628#VAR_007726,OMIM:601757.0002CN517202 not provided;
NM_000288.4(PEX7):c.668T>A (p.Leu223Ter)5191PEX7Likely pathogenic-1RCV002306841; NMONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:3097896137191062137191062137191062-
NM_000288.4(PEX7):c.682_683delinsA (p.Leu228fs)5191PEX7Likely pathogenic-1RCV002309593; NMONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:3097896137191076137191077137191076-
NM_000288.4(PEX7):c.694C>T (p.Arg232Ter)5191PEX7Pathogenic121909153RCV000008225|RCV000255604|RCV001064035|RCV001826452; NMONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:309789|MedGen:C3661900|MONDO:MONDO:0013945,MedGen:C2749346,OMIM:614879, Orphanet:773|MONDO:MONDO:0015776,MedGen:C0282529,OMIM:PS215100, Orphanet:17761371910881371910886:g.137191088C>TClinGen:CA254243,OMIM:601757.0004CN517202 not provided;
NM_000288.4(PEX7):c.695G>A (p.Arg232Gln)5191PEX7Conflicting interpretations of pathogenicity191969418RCV000591798|RCV000765867|RCV001081418|RCV001151970; NMedGen:C3661900|MONDO:MONDO:0013945,MedGen:C2749346,OMIM:614879, Orphanet:773; MONDO:MONDO:0009958,MedGen:C0034960,OMIM:266500, Orphanet:773; MONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:309789|MONDO:MONDO:0013945,MedGen:C2749346,OM61371910891371910896:g.137191089G>AClinGen:CA4017697CN169374 not specified;
NM_000288.4(PEX7):c.733A>T (p.Ile245Phe)5191PEX7Uncertain significance750815894RCV000667050|RCV001855474; NMONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:309789|MONDO:MONDO:0013945,MedGen:C2749346,OMIM:614879, Orphanet:77361371911271371911276:g.137191127A>T-C1859133 215100 Rhizomelic chondrodysplasia punctata type 1;
NM_000288.4(PEX7):c.735dup (p.Arg246Ter)5191PEX7Likely pathogenic1582760004RCV001004181; NMONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:30978961371911271371911286:g.137191127_137191128insT-
NM_000288.4(PEX7):c.736_747+17del5191PEX7Likely pathogenic1057517257RCV000409579|RCV000813677; NMONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:309789|MONDO:MONDO:0013945,MedGen:C2749346,OMIM:614879, Orphanet:7736137191128137191156NC_000006.11:g.137191130_137191158delClinGen:CA16041018C1859133 215100 Rhizomelic chondrodysplasia punctata type 1;
NM_000288.4(PEX7):c.737G>A (p.Arg246Lys)5191PEX7Uncertain significance780186421RCV000316855|RCV000371546; NMONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:309789|MONDO:MONDO:0013945,MedGen:C2749346,OMIM:614879, Orphanet:7736137191131137191131NC_000006.11:g.137191131G>AClinGen:CA4017705C0034960 266500 Phytanic acid storage disease;
NM_000288.4(PEX7):c.748-10T>C5191PEX7Conflicting interpretations of pathogenicity886061122RCV000263734|RCV000318897; NMONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:309789|MONDO:MONDO:0013945,MedGen:C2749346,OMIM:614879, Orphanet:7736137193326137193326NC_000006.11:g.137193326T>CClinGen:CA10626108C0034960 266500 Phytanic acid storage disease;
NM_000288.4(PEX7):c.748-4G>T5191PEX7Likely benign74658757RCV001275005|RCV001429581; NMONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:309789|MONDO:MONDO:0013945,MedGen:C2749346,OMIM:614879, Orphanet:77361371933321371933326:g.137193332G>T-
NM_000288.4(PEX7):c.748-2A>G5191PEX7Likely pathogenic778862698RCV000409011|RCV002523862; NMONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:309789|MONDO:MONDO:0013945,MedGen:C2749346,OMIM:614879, Orphanet:7736137193334137193334NC_000006.11:g.137193334A>GClinGen:CA16041019C1859133 215100 Rhizomelic chondrodysplasia punctata type 1;
NM_000288.4(PEX7):c.760C>T (p.His254Tyr)5191PEX7Uncertain significance1775195476RCV001280377; NMONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:30978961371933481371933486:g.137193348C>T-
NM_000288.4(PEX7):c.774_784del (p.Ala259fs)5191PEX7Likely pathogenic1057516824RCV000410971; NMONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:3097896137193358137193368NC_000006.11:g.137193362_137193372delClinGen:CA16041020
NM_000288.4(PEX7):c.785C>T (p.Ser262Leu)5191PEX7Uncertain significance62653610RCV000666583|RCV002530690; NMONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:309789|MONDO:MONDO:0013945,MedGen:C2749346,OMIM:614879, Orphanet:77361371933731371933736:g.137193373C>T-C1859133 215100 Rhizomelic chondrodysplasia punctata type 1;
NM_000288.4(PEX7):c.797C>T (p.Thr266Ile)5191PEX7Uncertain significance1452611618RCV001153233|RCV001153232; NMONDO:MONDO:0013945,MedGen:C2749346,OMIM:614879, Orphanet:773|MONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:30978961371933851371933856:g.137193385C>T-
NM_000288.4(PEX7):c.803+4C>G5191PEX7Uncertain significance759745913RCV001509295|RCV002501741|RCV002564280; NMedGen:C3661900|MONDO:MONDO:0013945,MedGen:C2749346,OMIM:614879, Orphanet:773; MONDO:MONDO:0009958,MedGen:C0034960,OMIM:266500, Orphanet:773; MONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:309789|MONDO:MONDO:0013945,MedGen:C2749346,OM6137193395137193395137193395-
NM_000288.4(PEX7):c.803+5A>G5191PEX7Uncertain significance759078908RCV001009549|RCV002549300; NMONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:309789|MONDO:MONDO:0013945,MedGen:C2749346,OMIM:614879, Orphanet:77361371933961371933966:g.137193396A>G-
NM_000288.4(PEX7):c.803+105A>C5191PEX7Benign72985582RCV000834492|RCV001543971|RCV001543972; NMedGen:C3661900|MONDO:MONDO:0013945,MedGen:C2749346,OMIM:614879, Orphanet:773|MONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:30978961371934961371934966:g.137193496A>C-
NM_000288.4(PEX7):c.804-5C>T5191PEX7Conflicting interpretations of pathogenicity369653173RCV000293074|RCV000387363; NMONDO:MONDO:0013945,MedGen:C2749346,OMIM:614879, Orphanet:773|MONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:3097896137219275137219275NC_000006.11:g.137219275C>TClinGen:CA4017778C0034960 266500 Phytanic acid storage disease;
NM_000288.4(PEX7):c.806dup (p.Trp270fs)5191PEX7Likely pathogenic1464766327RCV000664574; NMONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:30978961372192801372192816:g.137219280_137219281insT-C1859133 215100 Rhizomelic chondrodysplasia punctata type 1;
NM_000288.4(PEX7):c.817del (p.Ser273fs)5191PEX7Likely pathogenic1554335926RCV000670509; NMONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:30978961372192901372192906:g.137219290_137219290del-C1859133 215100 Rhizomelic chondrodysplasia punctata type 1;
NM_000288.4(PEX7):c.843A>G (p.Thr281=)5191PEX7Conflicting interpretations of pathogenicity767903764RCV000728556|RCV001155829|RCV001155828; NMedGen:CN517202|MONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:309789|MONDO:MONDO:0013945,MedGen:C2749346,OMIM:614879, Orphanet:7736137219319137219319NC_000006.11:g.137219319A>G-
NM_000288.4(PEX7):c.854A>G (p.His285Arg)5191PEX7Pathogenic/Likely pathogenic62653611RCV000032118|RCV000656253|RCV003473247; NMONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:309789|MedGen:C3661900|MONDO:MONDO:0013945,MedGen:C2749346,OMIM:614879, Orphanet:77361372193301372193306:g.137219330A>GClinGen:CA343128CN517202 not provided;
NM_000288.4(PEX7):c.871_874del (p.Cys290_Gly291insTer)5191PEX7Likely pathogenic1554335937RCV000667366; NMONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:30978961372193461372193496:g.137219346_137219349del-C1859133 215100 Rhizomelic chondrodysplasia punctata type 1;
NM_000288.4(PEX7):c.870_871insCAA (p.Cys290_Gly291insGln)5191PEX7Conflicting interpretations of pathogenicity267608257RCV001004182|RCV001860551|RCV002236071; NMONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:309789|MONDO:MONDO:0013945,MedGen:C2749346,OMIM:614879, Orphanet:773|MedGen:CN16937461372193461372193476:g.137219346_137219347insCAA-
NM_000288.4(PEX7):c.875T>A (p.Leu292Ter)5191PEX7Pathogenic1805137RCV000008222|RCV000339271|RCV000352824|RCV000380952|RCV000477898|RCV000515356; NMONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:309789|MedGen:C3661900|MedGen:CN239409|MONDO:MONDO:0013945,MedGen:C2749346,OMIM:614879, Orphanet:773|MONDO:MONDO:0013945,MedGen:C2749346,OMIM:614879, Orphanet:773; MONDO:MONDO:0008972,Me61372193511372193516:g.137219351T>AClinGen:CA340698,OMIM:601757.0001CN159238 614879 Peroxisome biogenesis disorder 9B;
NM_000288.4(PEX7):c.901C>T (p.Gln301Ter)5191PEX7Uncertain significance374763007RCV000670736; NMONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:30978961372193771372193776:g.137219377C>T-C1859133 215100 Rhizomelic chondrodysplasia punctata type 1;
NM_000288.4(PEX7):c.903+1G>C5191PEX7Pathogenic148591292RCV000008227|RCV000309699|RCV000388756|RCV000579182|RCV001027954|RCV002496304; NMONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:309789|MONDO:MONDO:0013945,MedGen:C2749346,OMIM:614879, Orphanet:773|MedGen:CN239409|MedGen:C3661900|MONDO:MONDO:0015776,MedGen:C0282529,OMIM:PS215100, Orphanet:177|MONDO:MONDO:0013945,61372193801372193806:g.137219380G>CClinGen:CA340702,OMIM:601757.0006CN517202 not provided;
NM_000288.4(PEX7):c.903+8A>G5191PEX7Conflicting interpretations of pathogenicity779919482RCV000978842|RCV001155830; NMONDO:MONDO:0013945,MedGen:C2749346,OMIM:614879, Orphanet:773|MONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:30978961372193871372193876:g.137219387A>G-
NM_000288.4(PEX7):c.904-1G>A5191PEX7Uncertain significance1413838301RCV000669307|RCV002485548; NMONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:309789|MONDO:MONDO:0009958,MedGen:C0034960,OMIM:266500, Orphanet:773; MONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:309789; MONDO:MONDO:0013945,MedGen:C2749346,OM61372345951372345956:g.137234595G>A-C1859133 215100 Rhizomelic chondrodysplasia punctata type 1;
NM_000288.4(PEX7):c.917del (p.Ser306fs)5191PEX7Uncertain significance1554337182RCV000674691; NMONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:30978961372346091372346096:g.137234609_137234609del-C1859133 215100 Rhizomelic chondrodysplasia punctata type 1;
NM_000288.4(PEX7):c.931del (p.Thr310_Ile311insTer)5191PEX7Uncertain significance1554337188RCV000666687; NMONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:30978961372346221372346226:g.137234622_137234622del-C1859133 215100 Rhizomelic chondrodysplasia punctata type 1;
NM_000288.4(PEX7):c.941A>G (p.Tyr314Cys)5191PEX7Uncertain significance201106072RCV000289754|RCV000344693|RCV000591809|RCV002523551; NMONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:309789|MONDO:MONDO:0013945,MedGen:C2749346,OMIM:614879, Orphanet:773|MedGen:CN517202|MeSH:D030342,MedGen:C09501236137234633137234633NC_000006.11:g.137234633A>GClinGen:CA4017812CN169374 not specified;
NM_000288.4(PEX7):c.961A>G (p.Ile321Val)5191PEX7Uncertain significance879706210RCV000290431|RCV000400265|RCV002278613; NMONDO:MONDO:0013945,MedGen:C2749346,OMIM:614879, Orphanet:773|MONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:309789|MONDO:MONDO:0003900,MedGen:C00097826137234653137234653NC_000006.11:g.137234653A>GClinGen:CA10626111C0034960 266500 Phytanic acid storage disease;
NM_000288.4(PEX7):c.970T>G (p.Ter324Gly)5191PEX7Uncertain significance988988279RCV000672605; NMONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:30978961372346621372346626:g.137234662T>G-C1859133 215100 Rhizomelic chondrodysplasia punctata type 1;
NM_000288.4(PEX7):c.971G>C (p.Ter324Ser)5191PEX7Uncertain significance374574552RCV000664481; NMONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:30978961372346631372346636:g.137234663G>C-C1859133 215100 Rhizomelic chondrodysplasia punctata type 1;
NM_000288.4(PEX7):c.*38G>A5191PEX7Conflicting interpretations of pathogenicity41288965RCV000340735|RCV000407255; NMONDO:MONDO:0013945,MedGen:C2749346,OMIM:614879, Orphanet:773|MONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:3097896137234702137234702NC_000006.11:g.137234702G>AClinGen:CA4017823C0034960 266500 Phytanic acid storage disease;
NM_000288.4(PEX7):c.*115A>G5191PEX7Likely benign41288967RCV001157532|RCV001157531; NMONDO:MONDO:0013945,MedGen:C2749346,OMIM:614879, Orphanet:773|MONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:30978961372347791372347796:g.137234779A>G-
NM_000288.4(PEX7):c.*124A>G5191PEX7Uncertain significance112796869RCV001157534|RCV001157533; NMONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:309789|MONDO:MONDO:0013945,MedGen:C2749346,OMIM:614879, Orphanet:77361372347881372347886:g.137234788A>G-
NM_000288.4(PEX7):c.*223T>A5191PEX7Uncertain significance774681133RCV001157536|RCV001157535; NMONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:309789|MONDO:MONDO:0013945,MedGen:C2749346,OMIM:614879, Orphanet:77361372348871372348876:g.137234887T>A-
NM_000288.4(PEX7):c.*272A>G5191PEX7Conflicting interpretations of pathogenicity186705952RCV000297765|RCV000407245; NMONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:309789|MONDO:MONDO:0013945,MedGen:C2749346,OMIM:614879, Orphanet:7736137234936137234936NC_000006.11:g.137234936A>GClinGen:CA10626113C0034960 266500 Phytanic acid storage disease;
NM_000288.4(PEX7):c.*305C>A5191PEX7Uncertain significance567568009RCV000329864|RCV000370454; NMONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:309789|MONDO:MONDO:0013945,MedGen:C2749346,OMIM:614879, Orphanet:7736137234969137234969NC_000006.11:g.137234969C>AClinGen:CA10621516C0034960 266500 Phytanic acid storage disease;
NM_000288.4(PEX7):c.*305C>T5191PEX7Uncertain significance567568009RCV000275687|RCV000326116; NMONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:309789|MONDO:MONDO:0013945,MedGen:C2749346,OMIM:614879, Orphanet:7736137234969137234969NC_000006.11:g.137234969C>TClinGen:CA10626114C0034960 266500 Phytanic acid storage disease;
NM_000288.4(PEX7):c.*306T>G5191PEX7Benign1050803RCV000291136|RCV000380781|RCV001712161|RCV001828345; NMONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:309789|MONDO:MONDO:0013945,MedGen:C2749346,OMIM:614879, Orphanet:773|MedGen:C3661900|MONDO:MONDO:0015776,MedGen:C0282529,OMIM:PS215100, Orphanet:1776137234970137234970NC_000006.11:g.137234970T>GClinGen:CA10623055C0034960 266500 Phytanic acid storage disease;
NM_000288.4(PEX7):c.*367T>C5191PEX7Uncertain significance886061124RCV000327687|RCV000377573; NMONDO:MONDO:0013945,MedGen:C2749346,OMIM:614879, Orphanet:773|MONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:3097896137235031137235031NC_000006.11:g.137235031T>CClinGen:CA10621518C0034960 266500 Phytanic acid storage disease;
MSeqDR Portal