Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | NM_000288.4(PEX7):c.-95T>C | 5191 | PEX7 | Benign | 1321471 | RCV000834249|RCV001543966|RCV001543967; | N | MedGen:C3661900|MONDO:MONDO:0013945,MedGen:C2749346,OMIM:614879, Orphanet:773|MONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:309789 | 6 | 137143709 | 137143709 | | | 6:g.137143709T>C | - | | |
NM_000288.4(PEX7):c.-69C>A | 5191 | PEX7 | Uncertain significance | 528948146 | RCV001151884|RCV001151885; | N | MONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:309789|MONDO:MONDO:0013945,MedGen:C2749346,OMIM:614879, Orphanet:773 | 6 | 137143735 | 137143735 | | | 6:g.137143735C>A | - | | |
NM_000288.4(PEX7):c.-65A>T | 5191 | PEX7 | Benign/Likely benign | 190537612 | RCV001151887|RCV001151886|RCV001570476; | N | MONDO:MONDO:0013945,MedGen:C2749346,OMIM:614879, Orphanet:773|MONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:309789|MedGen:C3661900 | 6 | 137143739 | 137143739 | | | 6:g.137143739A>T | - | | |
NM_000288.4(PEX7):c.-56C>T | 5191 | PEX7 | Benign | 73777751 | RCV000300626|RCV000336760|RCV000676101|RCV001275001; | N | MONDO: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 | 6 | 137143748 | 137143748 | | | 6:g.137143748C>T | ClinGen:CA10625880 | CN517202 not provided; | |
NM_000288.4(PEX7):c.-46_-38dup | 5191 | PEX7 | Uncertain significance | 1554328233 | RCV000674306; | N | MONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:309789 | 6 | 137143757 | 137143758 | | | 6:g.137143757_137143758insACGGCTTCC | - | C1859133 215100 Rhizomelic chondrodysplasia punctata type 1; | |
NM_000288.4(PEX7):c.-35G>A | 5191 | PEX7 | Uncertain significance | 886061116 | RCV000310937|RCV000392362; | N | MONDO:MONDO:0013945,MedGen:C2749346,OMIM:614879, Orphanet:773|MONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:309789 | 6 | 137143769 | 137143769 | | | 6:g.137143769G>A | ClinGen:CA10625881 | C0034960 266500 Phytanic acid storage disease; | |
NM_000288.4(PEX7):c.-31G>A | 5191 | PEX7 | Benign/Likely benign | 115866467 | RCV000242739|RCV000275755|RCV000370255|RCV001275002; | N | MedGen: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:177 | 6 | 137143773 | 137143773 | | | NC_000006.11:g.137143773G>A | ClinGen:CA4017476 | CN169374 not specified; | |
NM_000288.4(PEX7):c.-28G>A | 5191 | PEX7 | Uncertain significance | 376808803 | RCV000307519|RCV000362545; | N | MONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:309789|MONDO:MONDO:0013945,MedGen:C2749346,OMIM:614879, Orphanet:773 | 6 | 137143776 | 137143776 | | | 6:g.137143776G>A | ClinGen:CA10621513 | C0034960 266500 Phytanic acid storage disease; | |
NM_000288.4(PEX7):c.-18C>T | 5191 | PEX7 | Uncertain significance | 991168664 | RCV001153127|RCV001153128; | N | MONDO:MONDO:0013945,MedGen:C2749346,OMIM:614879, Orphanet:773|MONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:309789 | 6 | 137143786 | 137143786 | | | 6:g.137143786C>T | - | | |
NM_000288.4(PEX7):c.-3G>A | 5191 | PEX7 | Uncertain significance | 886061117 | RCV000272554|RCV000665793; | N | MONDO:MONDO:0013945,MedGen:C2749346,OMIM:614879, Orphanet:773|MONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:309789 | 6 | 137143801 | 137143801 | | | 6:g.137143801G>A | ClinGen:CA10625885 | C0034960 266500 Phytanic acid storage disease; | |
NM_000288.4(PEX7):c.13_19dup (p.Gly7fs) | 5191 | PEX7 | Pathogenic/Likely pathogenic | 62636519 | RCV000008232|RCV000411594|RCV001828372; | N | 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:177 | 6 | 137143807 | 137143808 | | | NC_000006.11:g.137143816_137143822dupTGCGGTG | ClinGen:CA119077,OMIM:601757.0010 | CN159238 614879 Peroxisome biogenesis disorder 9B; | |
NM_000288.4(PEX7):c.31_56del (p.Met11fs) | 5191 | PEX7 | Likely pathogenic | 1057516961 | RCV000409296; | N | MONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:309789 | 6 | 137143831 | 137143856 | | | 6:g.137143831_137143856del | ClinGen:CA16041008 | C1859133 215100 Rhizomelic chondrodysplasia punctata type 1; | |
NM_000288.4(PEX7):c.37_45dup (p.Arg13_Pro15dup) | 5191 | PEX7 | Uncertain significance | 1554328282 | RCV000672246; | N | MONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:309789 | 6 | 137143838 | 137143839 | | | 6:g.137143838_137143839insGCGGACGCC | - | C1859133 215100 Rhizomelic chondrodysplasia punctata type 1; | |
NM_000288.4(PEX7):c.45_52dup (p.His18fs) | 5191 | PEX7 | Pathogenic | 63535662 | RCV000008226|RCV000032589; | N | MONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:309789|MONDO:MONDO:0013945,MedGen:C2749346,OMIM:614879, Orphanet:773 | 6 | 137143840 | 137143841 | | | 6:g.137143840_137143841insGGACGCCG | ClinGen:CA130256,OMIM:601757.0005 | CN159238 614879 Peroxisome biogenesis disorder 9B; | |
NM_000288.4(PEX7):c.38G>A (p.Arg13Gln) | 5191 | PEX7 | Uncertain significance | 1220044805 | RCV001578662|RCV001578661|RCV002368604; | N | MONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:309789|MONDO:MONDO:0013945,MedGen:C2749346,OMIM:614879, Orphanet:773|MeSH:D030342,MedGen:C0950123 | 6 | 137143841 | 137143841 | | | 137143841 | - | | |
NM_000288.4(PEX7):c.40A>C (p.Thr14Pro) | 5191 | PEX7 | Pathogenic | 61753233 | RCV000008233|RCV000032117; | N | MONDO:MONDO:0013945,MedGen:C2749346,OMIM:614879, Orphanet:773|MONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:309789 | 6 | 137143843 | 137143843 | | | 6:g.137143843A>C | ClinGen:CA119078,UniProtKB:O00628#VAR_016810,OMIM:601757.0011 | CN159238 614879 Peroxisome biogenesis disorder 9B; | |
NM_000288.4(PEX7):c.46_47del (p.Gly16fs) | 5191 | PEX7 | Likely pathogenic | -1 | RCV002306550; | N | MONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:309789 | 6 | 137143848 | 137143849 | | | 137143847 | - | | |
NM_000288.4(PEX7):c.60C>G (p.Tyr20Ter) | 5191 | PEX7 | Likely pathogenic | 1057516882 | RCV000411102; | N | MONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:309789 | 6 | 137143863 | 137143863 | | | 6:g.137143863C>G | ClinGen:CA16041009 | C1859133 215100 Rhizomelic chondrodysplasia punctata type 1; | |
NM_000288.4(PEX7):c.74C>T (p.Ser25Phe) | 5191 | PEX7 | Conflicting interpretations of pathogenicity | 61753236 | RCV000169280|RCV000654914; | N | MONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:309789|MONDO:MONDO:0013945,MedGen:C2749346,OMIM:614879, Orphanet:773 | 6 | 137143877 | 137143877 | | | 6:g.137143877C>T | ClinGen:CA274123 | CN159238 614879 Peroxisome biogenesis disorder 9B; | |
NM_000288.4(PEX7):c.81C>G (p.Tyr27Ter) | 5191 | PEX7 | Likely pathogenic | 1057516737 | RCV000411754; | N | MONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:309789 | 6 | 137143884 | 137143884 | | | 6:g.137143884C>G | ClinGen:CA16041010 | C1859133 215100 Rhizomelic chondrodysplasia punctata type 1; | |
NM_000288.4(PEX7):c.86C>T (p.Pro29Leu) | 5191 | PEX7 | Uncertain significance | 757852291 | RCV000597849|RCV000765866|RCV001058802|RCV001275003|RCV002532401; | N | MedGen: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,OM | 6 | 137143889 | 137143889 | | | 6:g.137143889C>T | ClinGen:CA4017482 | CN169374 not specified; | |
NM_000288.4(PEX7):c.94C>T (p.Leu32=) | 5191 | PEX7 | Conflicting interpretations of pathogenicity | 886061118 | RCV000377520|RCV000593941|RCV001086124|RCV001833471; | N | MONDO: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:177 | 6 | 137143897 | 137143897 | | | 6:g.137143897C>T | ClinGen:CA10623035 | CN169374 not specified; | |
NM_000288.4(PEX7):c.96G>A (p.Leu32=) | 5191 | PEX7 | Likely benign | 1397119638 | RCV000613681|RCV001274734|RCV002529518; | N | MedGen:CN169374|MONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:309789|MONDO:MONDO:0013945,MedGen:C2749346,OMIM:614879, Orphanet:773 | 6 | 137143899 | 137143899 | | | 6:g.137143899G>A | ClinGen:CA452374720 | CN169374 not specified; | |
NM_000288.4(PEX7):c.116A>C (p.His39Pro) | 5191 | PEX7 | Likely pathogenic | 61753237 | RCV001004174|RCV003473544; | N | MONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:309789|MONDO:MONDO:0013945,MedGen:C2749346,OMIM:614879, Orphanet:773 | 6 | 137143919 | 137143919 | | | 6:g.137143919A>C | - | | |
NM_000288.4(PEX7):c.120C>G (p.Tyr40Ter) | 5191 | PEX7 | Pathogenic | 61753238 | RCV000008230|RCV000147254|RCV000324320|RCV000763558|RCV001826454|RCV002512898|RCV003137500; | N | MONDO: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,OM | 6 | 137143923 | 137143923 | | | 6:g.137143923C>G | ClinGen:CA119075,OMIM:601757.0009 | CN159238 614879 Peroxisome biogenesis disorder 9B; | |
NM_000288.4(PEX7):c.122G>T (p.Gly41Val) | 5191 | PEX7 | Uncertain significance | 61753239 | RCV000672240; | N | MONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:309789 | 6 | 137143925 | 137143925 | | | 6:g.137143925G>T | - | C1859133 215100 Rhizomelic chondrodysplasia punctata type 1; | |
NM_000288.4(PEX7):c.122_123del (p.Gly41fs) | 5191 | PEX7 | Likely pathogenic | -1 | RCV002307294; | N | MONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:309789 | 6 | 137143925 | 137143926 | | | 137143924 | - | | |
NM_000288.4(PEX7):c.128C>T (p.Ala43Val) | 5191 | PEX7 | Conflicting interpretations of pathogenicity | 780369944 | RCV001054440|RCV001274735|RCV002276603|RCV003339446; | N | MONDO: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:C0950123 | 6 | 137143931 | 137143931 | | | 6:g.137143931C>T | - | | |
NM_000288.4(PEX7):c.129G>C (p.Ala43=) | 5191 | PEX7 | Uncertain significance | 1256466654 | RCV001307840|RCV001835506|RCV002476419; | N | MONDO: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,Orphane | 6 | 137143932 | 137143932 | | | 137143932 | - | | |
NM_000288.4(PEX7):c.130+1G>C | 5191 | PEX7 | Likely pathogenic | 267608253 | RCV000409059; | N | MONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:309789 | 6 | 137143934 | 137143934 | | | 6:g.137143934G>C | ClinGen:CA16041011 | C1859133 215100 Rhizomelic chondrodysplasia punctata type 1; | |
NM_000288.4(PEX7):c.130+1G>A | 5191 | PEX7 | Pathogenic | 267608253 | RCV000792527|RCV001004175; | N | MONDO:MONDO:0013945,MedGen:C2749346,OMIM:614879, Orphanet:773|MONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:309789 | 6 | 137143934 | 137143934 | | | 6:g.137143934G>A | - | | |
NM_000288.4(PEX7):c.130+11G>T | 5191 | PEX7 | Uncertain significance | 886061119 | RCV000279742|RCV000378803; | N | MONDO:MONDO:0013945,MedGen:C2749346,OMIM:614879, Orphanet:773|MONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:309789 | 6 | 137143944 | 137143944 | | | 6:g.137143944G>T | ClinGen:CA10623037 | C0034960 266500 Phytanic acid storage disease; | |
NM_000288.4(PEX7):c.130+13C>A | 5191 | PEX7 | Conflicting interpretations of pathogenicity | 886061120 | RCV000338400|RCV000374317; | N | MONDO:MONDO:0013945,MedGen:C2749346,OMIM:614879, Orphanet:773|MONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:309789 | 6 | 137143946 | 137143946 | | | 6:g.137143946C>A | ClinGen:CA10623038 | C0034960 266500 Phytanic acid storage disease; | |
NM_000288.4(PEX7):c.130+32_130+51del | 5191 | PEX7 | Likely benign | 1554328334 | RCV000673999; | N | MONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:309789 | 6 | 137143961 | 137143980 | | | 6:g.137143961_137143980del | - | C1859133 215100 Rhizomelic chondrodysplasia punctata type 1; | |
NM_000288.4(PEX7):c.130+48_130+53dup | 5191 | PEX7 | Benign | 11283064 | RCV001027952|RCV001788400|RCV001673006|RCV001788401; | N | MONDO: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:773 | 6 | 137143980 | 137143981 | | | 6:g.137143980_137143981insGGGGCC | - | | |
NM_000288.4(PEX7):c.131-2A>G | 5191 | PEX7 | Likely pathogenic | 1554328790 | RCV000668712; | N | MONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:309789 | 6 | 137146350 | 137146350 | | | 6:g.137146350A>G | - | C1859133 215100 Rhizomelic chondrodysplasia punctata type 1; | |
NM_000288.4(PEX7):c.183del (p.Phe61fs) | 5191 | PEX7 | Pathogenic/Likely pathogenic | 774131564 | RCV000490306|RCV001004176|RCV001043666; | N | MONDO: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,OM | 6 | 137146400 | 137146400 | | | 6:g.137146400_137146400del | ClinGen:CA4017507 | CN159238 614879 Peroxisome biogenesis disorder 9B; | |
NM_000288.4(PEX7):c.188+1G>C | 5191 | PEX7 | Pathogenic/Likely pathogenic | 267608254 | RCV000169353|RCV001068245|RCV002485052|RCV003233479; | N | MONDO: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,Orphan | 6 | 137146410 | 137146410 | | | 6:g.137146410G>C | ClinGen:CA274207 | C1859133 215100 Rhizomelic chondrodysplasia punctata type 1; | |
NM_000288.4(PEX7):c.188+1G>A | 5191 | PEX7 | Pathogenic/Likely pathogenic | 267608254 | RCV001004177|RCV002549235; | N | MONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:309789|MONDO:MONDO:0013945,MedGen:C2749346,OMIM:614879, Orphanet:773 | 6 | 137146410 | 137146410 | | | 6:g.137146410G>A | - | | |
NM_000288.4(PEX7):c.188+3A>G | 5191 | PEX7 | Uncertain significance | 200234391 | RCV000293982|RCV000348944|RCV000595599|RCV001252341; | N | MONDO: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:HP | 6 | 137146412 | 137146412 | | | NC_000006.11:g.137146412A>G | ClinGen:CA4017510 | CN169374 not specified; | |
NM_000288.4(PEX7):c.189-2A>G | 5191 | PEX7 | Likely pathogenic | 1554328952 | RCV000671094; | N | MONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:309789 | 6 | 137147455 | 137147455 | | | 6:g.137147455A>G | - | C1859133 215100 Rhizomelic chondrodysplasia punctata type 1; | |
NM_000288.4(PEX7):c.206del (p.Gly69fs) | 5191 | PEX7 | Likely pathogenic | -1 | RCV002309495; | N | MONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:309789 | 6 | 137147473 | 137147473 | | | 137147472 | - | | |
NM_000288.4(PEX7):c.225G>C (p.Trp75Cys) | 5191 | PEX7 | Uncertain significance | 1554328961 | RCV000665024; | N | MONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:309789 | 6 | 137147493 | 137147493 | | | 6:g.137147493G>C | - | C1859133 215100 Rhizomelic chondrodysplasia punctata type 1; | |
NM_000288.4(PEX7):c.233del (p.Asn78fs) | 5191 | PEX7 | Likely pathogenic | 1582732852 | RCV001004178; | N | MONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:309789 | 6 | 137147500 | 137147500 | | | 6:g.137147500_137147500del | - | | |
NM_000288.4(PEX7):c.277C>T (p.Gln93Ter) | 5191 | PEX7 | Pathogenic/Likely pathogenic | 763514968 | RCV000409536|RCV001387967|RCV001828373|RCV002278634|RCV002502423; | N | MONDO: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:0013 | 6 | 137147545 | 137147545 | | | 6:g.137147545C>T | ClinGen:CA4017545 | C1859133 215100 Rhizomelic chondrodysplasia punctata type 1; | |
NM_000288.4(PEX7):c.294del (p.Ala100fs) | 5191 | PEX7 | Pathogenic | 1456007349 | RCV001822980; | N | MONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:309789 | 6 | 137147561 | 137147561 | | | 137147560 | - | | |
NM_000288.4(PEX7):c.297del (p.Ala100fs) | 5191 | PEX7 | Likely pathogenic | -1 | RCV002310416; | N | MONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:309789 | 6 | 137147563 | 137147563 | | | 137147562 | - | | |
NM_000288.4(PEX7):c.316G>C (p.Val106Leu) | 5191 | PEX7 | Uncertain significance | 886061121 | RCV000313608|RCV000393508|RCV000591536; | N | MONDO:MONDO:0013945,MedGen:C2749346,OMIM:614879, Orphanet:773|MONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:309789|MedGen:CN517202 | 6 | 137147584 | 137147584 | | | NC_000006.11:g.137147584G>C | ClinGen:CA10626099 | CN169374 not specified; | |
NM_000288.4(PEX7):c.323_324del (p.Lys108fs) | 5191 | PEX7 | Likely pathogenic | -1 | RCV002306477; | N | MONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:309789 | 6 | 137147590 | 137147591 | | | 137147589 | - | | |
NM_000288.4(PEX7):c.330C>T (p.His110=) | 5191 | PEX7 | Conflicting interpretations of pathogenicity | 199648976 | RCV000366386|RCV001088047|RCV001274736; | N | MedGen:C3661900|MONDO:MONDO:0013945,MedGen:C2749346,OMIM:614879, Orphanet:773|MONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:309789 | 6 | 137147598 | 137147598 | | | 6:g.137147598C>T | ClinGen:CA4017551 | CN169374 not specified; | |
NM_000288.4(PEX7):c.334C>T (p.Gln112Ter) | 5191 | PEX7 | Pathogenic/Likely pathogenic | 62653604 | RCV000411360|RCV003475974; | N | MONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:309789|MONDO:MONDO:0013945,MedGen:C2749346,OMIM:614879, Orphanet:773 | 6 | 137147602 | 137147602 | | | 6:g.137147602C>T | ClinGen:CA16041012 | C1859133 215100 Rhizomelic chondrodysplasia punctata type 1; | |
NM_000288.4(PEX7):c.339+2T>C | 5191 | PEX7 | Pathogenic/Likely pathogenic | 1057517059 | RCV000409658|RCV002275036; | N | MONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:309789|MedGen:C3661900 | 6 | 137147609 | 137147609 | | | NC_000006.11:g.137147609T>C | ClinGen:CA16041013 | C1859133 215100 Rhizomelic chondrodysplasia punctata type 1; | |
NM_000288.4(PEX7):c.339+10A>G | 5191 | PEX7 | Conflicting interpretations of pathogenicity | 374668045 | RCV000367539|RCV000726667|RCV001274737|RCV001521874; | N | MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:309789|MONDO:MONDO:0013945,MedGen:C2749346,OMIM:614879, Orphanet:773 | 6 | 137147617 | 137147617 | | | 6:g.137147617A>G | ClinGen:CA4017556 | CN169374 not specified; | |
NM_000288.4(PEX7):c.340-103A>G | 5191 | PEX7 | Benign/Likely benign | 2295592 | RCV001543968|RCV001543969|RCV001655853; | N | MONDO:MONDO:0013945,MedGen:C2749346,OMIM:614879, Orphanet:773|MONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:309789|MedGen:C3661900 | 6 | 137166650 | 137166650 | | | 137166650 | - | | |
NM_000288.4(PEX7):c.340-71G>A | 5191 | PEX7 | Benign | 927181 | RCV000987791|RCV001543970|RCV001683706; | N | MONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:309789|MONDO:MONDO:0013945,MedGen:C2749346,OMIM:614879, Orphanet:773|MedGen:C3661900 | 6 | 137166682 | 137166682 | | | 6:g.137166682G>A | - | | |
NM_000288.4(PEX7):c.340-10A>G | 5191 | PEX7 | Conflicting interpretations of pathogenicity | 267608255 | RCV000008229|RCV000032116|RCV000393497|RCV000731239; | N | 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|MedGen:C3661900 | 6 | 137166743 | 137166743 | | | 6:g.137166743A>G | ClinGen:CA119074,OMIM:601757.0008 | CN159238 614879 Peroxisome biogenesis disorder 9B; | |
NM_000288.4(PEX7):c.345T>G (p.Tyr115Ter) | 5191 | PEX7 | Pathogenic/Likely pathogenic | 121909154 | RCV000008228|RCV000411170|RCV001826453; | N | 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:177 | 6 | 137166758 | 137166758 | | | 6:g.137166758T>G | ClinGen:CA119072,OMIM:601757.0007 | CN159238 614879 Peroxisome biogenesis disorder 9B; | |
NM_000288.4(PEX7):c.357G>A (p.Trp119Ter) | 5191 | PEX7 | Pathogenic | 1554331461 | RCV000500982; | N | MONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:309789 | 6 | 137166770 | 137166770 | | | NC_000006.11:g.137166770G>A | ClinGen:CA365856717 | C1859133 215100 Rhizomelic chondrodysplasia punctata type 1; | |
NM_000288.4(PEX7):c.373G>T (p.Glu125Ter) | 5191 | PEX7 | Likely pathogenic | 769137963 | RCV000670069; | N | MONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:309789 | 6 | 137166786 | 137166786 | | | 6:g.137166786G>T | - | C1859133 215100 Rhizomelic chondrodysplasia punctata type 1; | |
NM_000288.4(PEX7):c.376C>T (p.Gln126Ter) | 5191 | PEX7 | Pathogenic/Likely pathogenic | 2115170536 | RCV001825096|RCV002034680; | N | MONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:309789|MONDO:MONDO:0013945,MedGen:C2749346,OMIM:614879, Orphanet:773 | 6 | 137166789 | 137166789 | | | 137166789 | - | | |
NM_000288.4(PEX7):c.377A>C (p.Gln126Pro) | 5191 | PEX7 | Benign/Likely benign | 113268723 | RCV000245920|RCV000433096|RCV000755647|RCV001080687|RCV001157438|RCV001833264|RCV002277607; | N | MedGen: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,Me | 6 | 137166790 | 137166790 | | | NC_000006.11:g.137166790A>C | ClinGen:CA4017586 | CN517202 not provided; | |
NM_000288.4(PEX7):c.400G>A (p.Asp134Asn) | 5191 | PEX7 | Likely pathogenic | 764346452 | RCV000169000|RCV003474894; | N | MONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:309789|MONDO:MONDO:0013945,MedGen:C2749346,OMIM:614879, Orphanet:773 | 6 | 137166813 | 137166813 | | | 6:g.137166813G>A | ClinGen:CA273876 | C1859133 215100 Rhizomelic chondrodysplasia punctata type 1; | |
NM_000288.4(PEX7):c.418-4G>T | 5191 | PEX7 | Conflicting interpretations of pathogenicity | 199552223 | RCV000309986|RCV000598492|RCV001080653; | N | MONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:309789|MedGen:C3661900|MONDO:MONDO:0013945,MedGen:C2749346,OMIM:614879, Orphanet:773 | 6 | 137167207 | 137167207 | | | NC_000006.11:g.137167207G>T | ClinGen:CA4017610 | CN169374 not specified; | |
NM_000288.4(PEX7):c.418-1G>A | 5191 | PEX7 | Likely pathogenic | 773406384 | RCV002271879; | N | MONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:309789 | 6 | 137167210 | 137167210 | | | 137167210 | - | | |
NM_000288.4(PEX7):c.429del (p.Val144fs) | 5191 | PEX7 | Pathogenic/Likely pathogenic | 61753248 | RCV000670475|RCV000809601|RCV001275004; | N | MONDO: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 | 6 | 137167222 | 137167222 | | | NC_000006.11:g.137167222del | - | C1859133 215100 Rhizomelic chondrodysplasia punctata type 1; | |
NM_000288.4(PEX7):c.449C>T (p.Thr150Ile) | 5191 | PEX7 | Uncertain significance | 957954726 | RCV001280376; | N | MONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:309789 | 6 | 137167242 | 137167242 | | | 6:g.137167242C>T | - | | |
NM_000288.4(PEX7):c.463G>T (p.Glu155Ter) | 5191 | PEX7 | Likely pathogenic | -1 | RCV002308279; | N | MONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:309789 | 6 | 137167256 | 137167256 | | | 137167256 | - | | |
NM_000288.4(PEX7):c.490T>C (p.Ser164Pro) | 5191 | PEX7 | Uncertain significance | 62653607 | RCV000667040|RCV003387904; | N | MONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:309789|MedGen:CN169374 | 6 | 137167283 | 137167283 | | | 6:g.137167283T>C | - | C1859133 215100 Rhizomelic chondrodysplasia punctata type 1; | |
NM_000288.4(PEX7):c.496C>T (p.His166Tyr) | 5191 | PEX7 | Uncertain significance | 1219430310 | RCV001157439|RCV001157440; | N | MONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:309789|MONDO:MONDO:0013945,MedGen:C2749346,OMIM:614879, Orphanet:773 | 6 | 137167289 | 137167289 | | | 6:g.137167289C>T | - | | |
NM_000288.4(PEX7):c.508del (p.Cys170fs) | 5191 | PEX7 | Pathogenic/Likely pathogenic | 1057516827 | RCV000411123|RCV002523861; | N | MONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:309789|MONDO:MONDO:0013945,MedGen:C2749346,OMIM:614879, Orphanet:773 | 6 | 137167300 | 137167300 | | | 6:g.137167300_137167300del | ClinGen:CA16041014 | C1859133 215100 Rhizomelic chondrodysplasia punctata type 1; | |
NM_000288.4(PEX7):c.527-2A>G | 5191 | PEX7 | Likely pathogenic | 1057517339 | RCV000411178; | N | MONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:309789 | 6 | 137187763 | 137187763 | | | NC_000006.11:g.137187763A>G | ClinGen:CA16041015 | C1859133 215100 Rhizomelic chondrodysplasia punctata type 1; | |
NM_000288.4(PEX7):c.538_539del (p.Leu180fs) | 5191 | PEX7 | Likely pathogenic | 1582757650 | RCV001004179|RCV003473545; | N | MONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:309789|MONDO:MONDO:0013945,MedGen:C2749346,OMIM:614879, Orphanet:773 | 6 | 137187774 | 137187775 | | | 6:g.137187774_137187775del | - | | |
NM_000288.4(PEX7):c.538del (p.Thr179_Leu180insTer) | 5191 | PEX7 | Pathogenic | 1554333636 | RCV000499989; | N | MONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:309789 | 6 | 137187776 | 137187776 | | | NC_000006.11:g.137187776del | ClinGen:CA645372434 | C1859133 215100 Rhizomelic chondrodysplasia punctata type 1; | |
NM_000288.4(PEX7):c.545dup (p.Trp183fs) | 5191 | PEX7 | Likely pathogenic | 1057516574 | RCV000411675; | N | MONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:309789 | 6 | 137187782 | 137187783 | | | 6:g.137187782_137187783insT | ClinGen:CA16041016 | C1859133 215100 Rhizomelic chondrodysplasia punctata type 1; | |
NM_000288.4(PEX7):c.554T>C (p.Val185Ala) | 5191 | PEX7 | Uncertain significance | 1424846175 | RCV001151968|RCV001151969|RCV002497572; | N | MONDO: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,OM | 6 | 137187792 | 137187792 | | | 6:g.137187792T>C | - | | |
NM_000288.4(PEX7):c.576C>T (p.Ile192=) | 5191 | PEX7 | Conflicting interpretations of pathogenicity | 776411851 | RCV000179285|RCV000265395|RCV000301749; | N | MedGen:C3661900|MONDO:MONDO:0013945,MedGen:C2749346,OMIM:614879, Orphanet:773|MONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:309789 | 6 | 137187814 | 137187814 | | | 6:g.137187814C>T | ClinGen:CA246556 | CN169374 not specified; | |
NM_000288.4(PEX7):c.592C>T (p.Gln198Ter) | 5191 | PEX7 | Pathogenic/Likely pathogenic | 764924345 | RCV001004180|RCV001234064; | N | MONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:309789|MONDO:MONDO:0013945,MedGen:C2749346,OMIM:614879, Orphanet:773 | 6 | 137187830 | 137187830 | | | 6:g.137187830C>T | - | | |
NM_000288.4(PEX7):c.615C>T (p.Asp205=) | 5191 | PEX7 | Conflicting interpretations of pathogenicity | 147298444 | RCV000360999|RCV000593142|RCV000887799|RCV001727703|RCV002356486; | N | MONDO: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:C0950123 | 6 | 137187853 | 137187853 | | | NC_000006.11:g.137187853C>T | ClinGen:CA4017665 | CN169374 not specified; | |
NM_000288.4(PEX7):c.618G>A (p.Trp206Ter) | 5191 | PEX7 | Pathogenic/Likely pathogenic | 61753245 | RCV000169479|RCV000578930|RCV001380052; | N | MONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:309789|MedGen:C3661900|MONDO:MONDO:0013945,MedGen:C2749346,OMIM:614879, Orphanet:773 | 6 | 137187856 | 137187856 | | | 6:g.137187856G>A | ClinGen:CA274350 | CN517202 not provided; | |
NM_000288.4(PEX7):c.622A>T (p.Lys208Ter) | 5191 | PEX7 | Likely pathogenic | -1 | RCV002306468; | N | MONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:309789 | 6 | 137187860 | 137187860 | | | 137187860 | - | | |
NM_000288.4(PEX7):c.633+1G>A | 5191 | PEX7 | Likely pathogenic | 1057516989 | RCV000411695|RCV001861385; | N | MONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:309789|MONDO:MONDO:0013945,MedGen:C2749346,OMIM:614879, Orphanet:773 | 6 | 137187872 | 137187872 | | | NC_000006.11:g.137187872G>A | ClinGen:CA16041017 | C1859133 215100 Rhizomelic chondrodysplasia punctata type 1; | |
NM_000288.4(PEX7):c.638dup (p.Leu213fs) | 5191 | PEX7 | Likely pathogenic | -1 | RCV002307134; | N | MONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:309789 | 6 | 137191029 | 137191030 | | | 137191029 | - | | |
NM_000288.4(PEX7):c.641T>C (p.Leu214Pro) | 5191 | PEX7 | Conflicting interpretations of pathogenicity | 1554333880 | RCV000502761|RCV001865618; | N | MONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:309789|MONDO:MONDO:0013945,MedGen:C2749346,OMIM:614879, Orphanet:773 | 6 | 137191035 | 137191035 | | | NC_000006.11:g.137191035T>C | ClinGen:CA365763942 | C1859133 215100 Rhizomelic chondrodysplasia punctata type 1; | |
NM_000288.4(PEX7):c.649G>A (p.Gly217Arg) | 5191 | PEX7 | Pathogenic/Likely pathogenic | 121909152 | RCV000008224|RCV000454287|RCV001509294|RCV001831556|RCV002512897; | N | MONDO: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:C0950123 | 6 | 137191043 | 137191043 | | | 6:g.137191043G>A | ClinGen:CA340700,UniProtKB:O00628#VAR_007725,OMIM:601757.0003 | CN159238 614879 Peroxisome biogenesis disorder 9B; | |
NM_000288.4(PEX7):c.653C>T (p.Ala218Val) | 5191 | PEX7 | Pathogenic/Likely pathogenic | 121909151 | RCV000008223|RCV000032925|RCV000656252|RCV001831555|RCV002504768; | N | MONDO: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, | 6 | 137191047 | 137191047 | | | 6:g.137191047C>T | ClinGen:CA130482,UniProtKB:O00628#VAR_007726,OMIM:601757.0002 | CN517202 not provided; | |
NM_000288.4(PEX7):c.668T>A (p.Leu223Ter) | 5191 | PEX7 | Likely pathogenic | -1 | RCV002306841; | N | MONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:309789 | 6 | 137191062 | 137191062 | | | 137191062 | - | | |
NM_000288.4(PEX7):c.682_683delinsA (p.Leu228fs) | 5191 | PEX7 | Likely pathogenic | -1 | RCV002309593; | N | MONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:309789 | 6 | 137191076 | 137191077 | | | 137191076 | - | | |
NM_000288.4(PEX7):c.694C>T (p.Arg232Ter) | 5191 | PEX7 | Pathogenic | 121909153 | RCV000008225|RCV000255604|RCV001064035|RCV001826452; | N | MONDO: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:177 | 6 | 137191088 | 137191088 | | | 6:g.137191088C>T | ClinGen:CA254243,OMIM:601757.0004 | CN517202 not provided; | |
NM_000288.4(PEX7):c.695G>A (p.Arg232Gln) | 5191 | PEX7 | Conflicting interpretations of pathogenicity | 191969418 | RCV000591798|RCV000765867|RCV001081418|RCV001151970; | N | 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,MedGen:C2749346,OM | 6 | 137191089 | 137191089 | | | 6:g.137191089G>A | ClinGen:CA4017697 | CN169374 not specified; | |
NM_000288.4(PEX7):c.733A>T (p.Ile245Phe) | 5191 | PEX7 | Uncertain significance | 750815894 | RCV000667050|RCV001855474; | N | MONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:309789|MONDO:MONDO:0013945,MedGen:C2749346,OMIM:614879, Orphanet:773 | 6 | 137191127 | 137191127 | | | 6:g.137191127A>T | - | C1859133 215100 Rhizomelic chondrodysplasia punctata type 1; | |
NM_000288.4(PEX7):c.735dup (p.Arg246Ter) | 5191 | PEX7 | Likely pathogenic | 1582760004 | RCV001004181; | N | MONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:309789 | 6 | 137191127 | 137191128 | | | 6:g.137191127_137191128insT | - | | |
NM_000288.4(PEX7):c.736_747+17del | 5191 | PEX7 | Likely pathogenic | 1057517257 | RCV000409579|RCV000813677; | N | MONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:309789|MONDO:MONDO:0013945,MedGen:C2749346,OMIM:614879, Orphanet:773 | 6 | 137191128 | 137191156 | | | NC_000006.11:g.137191130_137191158del | ClinGen:CA16041018 | C1859133 215100 Rhizomelic chondrodysplasia punctata type 1; | |
NM_000288.4(PEX7):c.737G>A (p.Arg246Lys) | 5191 | PEX7 | Uncertain significance | 780186421 | RCV000316855|RCV000371546; | N | MONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:309789|MONDO:MONDO:0013945,MedGen:C2749346,OMIM:614879, Orphanet:773 | 6 | 137191131 | 137191131 | | | NC_000006.11:g.137191131G>A | ClinGen:CA4017705 | C0034960 266500 Phytanic acid storage disease; | |
NM_000288.4(PEX7):c.748-10T>C | 5191 | PEX7 | Conflicting interpretations of pathogenicity | 886061122 | RCV000263734|RCV000318897; | N | MONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:309789|MONDO:MONDO:0013945,MedGen:C2749346,OMIM:614879, Orphanet:773 | 6 | 137193326 | 137193326 | | | NC_000006.11:g.137193326T>C | ClinGen:CA10626108 | C0034960 266500 Phytanic acid storage disease; | |
NM_000288.4(PEX7):c.748-4G>T | 5191 | PEX7 | Likely benign | 74658757 | RCV001275005|RCV001429581; | N | MONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:309789|MONDO:MONDO:0013945,MedGen:C2749346,OMIM:614879, Orphanet:773 | 6 | 137193332 | 137193332 | | | 6:g.137193332G>T | - | | |
NM_000288.4(PEX7):c.748-2A>G | 5191 | PEX7 | Likely pathogenic | 778862698 | RCV000409011|RCV002523862; | N | MONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:309789|MONDO:MONDO:0013945,MedGen:C2749346,OMIM:614879, Orphanet:773 | 6 | 137193334 | 137193334 | | | NC_000006.11:g.137193334A>G | ClinGen:CA16041019 | C1859133 215100 Rhizomelic chondrodysplasia punctata type 1; | |
NM_000288.4(PEX7):c.760C>T (p.His254Tyr) | 5191 | PEX7 | Uncertain significance | 1775195476 | RCV001280377; | N | MONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:309789 | 6 | 137193348 | 137193348 | | | 6:g.137193348C>T | - | | |
NM_000288.4(PEX7):c.774_784del (p.Ala259fs) | 5191 | PEX7 | Likely pathogenic | 1057516824 | RCV000410971; | N | MONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:309789 | 6 | 137193358 | 137193368 | | | NC_000006.11:g.137193362_137193372del | ClinGen:CA16041020 | | |
NM_000288.4(PEX7):c.785C>T (p.Ser262Leu) | 5191 | PEX7 | Uncertain significance | 62653610 | RCV000666583|RCV002530690; | N | MONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:309789|MONDO:MONDO:0013945,MedGen:C2749346,OMIM:614879, Orphanet:773 | 6 | 137193373 | 137193373 | | | 6:g.137193373C>T | - | C1859133 215100 Rhizomelic chondrodysplasia punctata type 1; | |
NM_000288.4(PEX7):c.797C>T (p.Thr266Ile) | 5191 | PEX7 | Uncertain significance | 1452611618 | RCV001153233|RCV001153232; | N | MONDO:MONDO:0013945,MedGen:C2749346,OMIM:614879, Orphanet:773|MONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:309789 | 6 | 137193385 | 137193385 | | | 6:g.137193385C>T | - | | |
NM_000288.4(PEX7):c.803+4C>G | 5191 | PEX7 | Uncertain significance | 759745913 | RCV001509295|RCV002501741|RCV002564280; | N | 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,MedGen:C2749346,OM | 6 | 137193395 | 137193395 | | | 137193395 | - | | |
NM_000288.4(PEX7):c.803+5A>G | 5191 | PEX7 | Uncertain significance | 759078908 | RCV001009549|RCV002549300; | N | MONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:309789|MONDO:MONDO:0013945,MedGen:C2749346,OMIM:614879, Orphanet:773 | 6 | 137193396 | 137193396 | | | 6:g.137193396A>G | - | | |
NM_000288.4(PEX7):c.803+105A>C | 5191 | PEX7 | Benign | 72985582 | RCV000834492|RCV001543971|RCV001543972; | N | MedGen:C3661900|MONDO:MONDO:0013945,MedGen:C2749346,OMIM:614879, Orphanet:773|MONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:309789 | 6 | 137193496 | 137193496 | | | 6:g.137193496A>C | - | | |
NM_000288.4(PEX7):c.804-5C>T | 5191 | PEX7 | Conflicting interpretations of pathogenicity | 369653173 | RCV000293074|RCV000387363; | N | MONDO:MONDO:0013945,MedGen:C2749346,OMIM:614879, Orphanet:773|MONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:309789 | 6 | 137219275 | 137219275 | | | NC_000006.11:g.137219275C>T | ClinGen:CA4017778 | C0034960 266500 Phytanic acid storage disease; | |
NM_000288.4(PEX7):c.806dup (p.Trp270fs) | 5191 | PEX7 | Likely pathogenic | 1464766327 | RCV000664574; | N | MONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:309789 | 6 | 137219280 | 137219281 | | | 6:g.137219280_137219281insT | - | C1859133 215100 Rhizomelic chondrodysplasia punctata type 1; | |
NM_000288.4(PEX7):c.817del (p.Ser273fs) | 5191 | PEX7 | Likely pathogenic | 1554335926 | RCV000670509; | N | MONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:309789 | 6 | 137219290 | 137219290 | | | 6:g.137219290_137219290del | - | C1859133 215100 Rhizomelic chondrodysplasia punctata type 1; | |
NM_000288.4(PEX7):c.843A>G (p.Thr281=) | 5191 | PEX7 | Conflicting interpretations of pathogenicity | 767903764 | RCV000728556|RCV001155829|RCV001155828; | N | MedGen:CN517202|MONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:309789|MONDO:MONDO:0013945,MedGen:C2749346,OMIM:614879, Orphanet:773 | 6 | 137219319 | 137219319 | | | NC_000006.11:g.137219319A>G | - | | |
NM_000288.4(PEX7):c.854A>G (p.His285Arg) | 5191 | PEX7 | Pathogenic/Likely pathogenic | 62653611 | RCV000032118|RCV000656253|RCV003473247; | N | MONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:309789|MedGen:C3661900|MONDO:MONDO:0013945,MedGen:C2749346,OMIM:614879, Orphanet:773 | 6 | 137219330 | 137219330 | | | 6:g.137219330A>G | ClinGen:CA343128 | CN517202 not provided; | |
NM_000288.4(PEX7):c.871_874del (p.Cys290_Gly291insTer) | 5191 | PEX7 | Likely pathogenic | 1554335937 | RCV000667366; | N | MONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:309789 | 6 | 137219346 | 137219349 | | | 6:g.137219346_137219349del | - | C1859133 215100 Rhizomelic chondrodysplasia punctata type 1; | |
NM_000288.4(PEX7):c.870_871insCAA (p.Cys290_Gly291insGln) | 5191 | PEX7 | Conflicting interpretations of pathogenicity | 267608257 | RCV001004182|RCV001860551|RCV002236071; | N | MONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:309789|MONDO:MONDO:0013945,MedGen:C2749346,OMIM:614879, Orphanet:773|MedGen:CN169374 | 6 | 137219346 | 137219347 | | | 6:g.137219346_137219347insCAA | - | | |
NM_000288.4(PEX7):c.875T>A (p.Leu292Ter) | 5191 | PEX7 | Pathogenic | 1805137 | RCV000008222|RCV000339271|RCV000352824|RCV000380952|RCV000477898|RCV000515356; | N | MONDO: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,Me | 6 | 137219351 | 137219351 | | | 6:g.137219351T>A | ClinGen:CA340698,OMIM:601757.0001 | CN159238 614879 Peroxisome biogenesis disorder 9B; | |
NM_000288.4(PEX7):c.901C>T (p.Gln301Ter) | 5191 | PEX7 | Uncertain significance | 374763007 | RCV000670736; | N | MONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:309789 | 6 | 137219377 | 137219377 | | | 6:g.137219377C>T | - | C1859133 215100 Rhizomelic chondrodysplasia punctata type 1; | |
NM_000288.4(PEX7):c.903+1G>C | 5191 | PEX7 | Pathogenic | 148591292 | RCV000008227|RCV000309699|RCV000388756|RCV000579182|RCV001027954|RCV002496304; | N | MONDO: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, | 6 | 137219380 | 137219380 | | | 6:g.137219380G>C | ClinGen:CA340702,OMIM:601757.0006 | CN517202 not provided; | |
NM_000288.4(PEX7):c.903+8A>G | 5191 | PEX7 | Conflicting interpretations of pathogenicity | 779919482 | RCV000978842|RCV001155830; | N | MONDO:MONDO:0013945,MedGen:C2749346,OMIM:614879, Orphanet:773|MONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:309789 | 6 | 137219387 | 137219387 | | | 6:g.137219387A>G | - | | |
NM_000288.4(PEX7):c.904-1G>A | 5191 | PEX7 | Uncertain significance | 1413838301 | RCV000669307|RCV002485548; | N | MONDO: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,OM | 6 | 137234595 | 137234595 | | | 6:g.137234595G>A | - | C1859133 215100 Rhizomelic chondrodysplasia punctata type 1; | |
NM_000288.4(PEX7):c.917del (p.Ser306fs) | 5191 | PEX7 | Uncertain significance | 1554337182 | RCV000674691; | N | MONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:309789 | 6 | 137234609 | 137234609 | | | 6:g.137234609_137234609del | - | C1859133 215100 Rhizomelic chondrodysplasia punctata type 1; | |
NM_000288.4(PEX7):c.931del (p.Thr310_Ile311insTer) | 5191 | PEX7 | Uncertain significance | 1554337188 | RCV000666687; | N | MONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:309789 | 6 | 137234622 | 137234622 | | | 6:g.137234622_137234622del | - | C1859133 215100 Rhizomelic chondrodysplasia punctata type 1; | |
NM_000288.4(PEX7):c.941A>G (p.Tyr314Cys) | 5191 | PEX7 | Uncertain significance | 201106072 | RCV000289754|RCV000344693|RCV000591809|RCV002523551; | N | MONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:309789|MONDO:MONDO:0013945,MedGen:C2749346,OMIM:614879, Orphanet:773|MedGen:CN517202|MeSH:D030342,MedGen:C0950123 | 6 | 137234633 | 137234633 | | | NC_000006.11:g.137234633A>G | ClinGen:CA4017812 | CN169374 not specified; | |
NM_000288.4(PEX7):c.961A>G (p.Ile321Val) | 5191 | PEX7 | Uncertain significance | 879706210 | RCV000290431|RCV000400265|RCV002278613; | N | MONDO:MONDO:0013945,MedGen:C2749346,OMIM:614879, Orphanet:773|MONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:309789|MONDO:MONDO:0003900,MedGen:C0009782 | 6 | 137234653 | 137234653 | | | NC_000006.11:g.137234653A>G | ClinGen:CA10626111 | C0034960 266500 Phytanic acid storage disease; | |
NM_000288.4(PEX7):c.970T>G (p.Ter324Gly) | 5191 | PEX7 | Uncertain significance | 988988279 | RCV000672605; | N | MONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:309789 | 6 | 137234662 | 137234662 | | | 6:g.137234662T>G | - | C1859133 215100 Rhizomelic chondrodysplasia punctata type 1; | |
NM_000288.4(PEX7):c.971G>C (p.Ter324Ser) | 5191 | PEX7 | Uncertain significance | 374574552 | RCV000664481; | N | MONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:309789 | 6 | 137234663 | 137234663 | | | 6:g.137234663G>C | - | C1859133 215100 Rhizomelic chondrodysplasia punctata type 1; | |
NM_000288.4(PEX7):c.*38G>A | 5191 | PEX7 | Conflicting interpretations of pathogenicity | 41288965 | RCV000340735|RCV000407255; | N | MONDO:MONDO:0013945,MedGen:C2749346,OMIM:614879, Orphanet:773|MONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:309789 | 6 | 137234702 | 137234702 | | | NC_000006.11:g.137234702G>A | ClinGen:CA4017823 | C0034960 266500 Phytanic acid storage disease; | |
NM_000288.4(PEX7):c.*115A>G | 5191 | PEX7 | Likely benign | 41288967 | RCV001157532|RCV001157531; | N | MONDO:MONDO:0013945,MedGen:C2749346,OMIM:614879, Orphanet:773|MONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:309789 | 6 | 137234779 | 137234779 | | | 6:g.137234779A>G | - | | |
NM_000288.4(PEX7):c.*124A>G | 5191 | PEX7 | Uncertain significance | 112796869 | RCV001157534|RCV001157533; | N | MONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:309789|MONDO:MONDO:0013945,MedGen:C2749346,OMIM:614879, Orphanet:773 | 6 | 137234788 | 137234788 | | | 6:g.137234788A>G | - | | |
NM_000288.4(PEX7):c.*223T>A | 5191 | PEX7 | Uncertain significance | 774681133 | RCV001157536|RCV001157535; | N | MONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:309789|MONDO:MONDO:0013945,MedGen:C2749346,OMIM:614879, Orphanet:773 | 6 | 137234887 | 137234887 | | | 6:g.137234887T>A | - | | |
NM_000288.4(PEX7):c.*272A>G | 5191 | PEX7 | Conflicting interpretations of pathogenicity | 186705952 | RCV000297765|RCV000407245; | N | MONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:309789|MONDO:MONDO:0013945,MedGen:C2749346,OMIM:614879, Orphanet:773 | 6 | 137234936 | 137234936 | | | NC_000006.11:g.137234936A>G | ClinGen:CA10626113 | C0034960 266500 Phytanic acid storage disease; | |
NM_000288.4(PEX7):c.*305C>A | 5191 | PEX7 | Uncertain significance | 567568009 | RCV000329864|RCV000370454; | N | MONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:309789|MONDO:MONDO:0013945,MedGen:C2749346,OMIM:614879, Orphanet:773 | 6 | 137234969 | 137234969 | | | NC_000006.11:g.137234969C>A | ClinGen:CA10621516 | C0034960 266500 Phytanic acid storage disease; | |
NM_000288.4(PEX7):c.*305C>T | 5191 | PEX7 | Uncertain significance | 567568009 | RCV000275687|RCV000326116; | N | MONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:309789|MONDO:MONDO:0013945,MedGen:C2749346,OMIM:614879, Orphanet:773 | 6 | 137234969 | 137234969 | | | NC_000006.11:g.137234969C>T | ClinGen:CA10626114 | C0034960 266500 Phytanic acid storage disease; | |
NM_000288.4(PEX7):c.*306T>G | 5191 | PEX7 | Benign | 1050803 | RCV000291136|RCV000380781|RCV001712161|RCV001828345; | N | MONDO: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 | 6 | 137234970 | 137234970 | | | NC_000006.11:g.137234970T>G | ClinGen:CA10623055 | C0034960 266500 Phytanic acid storage disease; | |
NM_000288.4(PEX7):c.*367T>C | 5191 | PEX7 | Uncertain significance | 886061124 | RCV000327687|RCV000377573; | N | MONDO:MONDO:0013945,MedGen:C2749346,OMIM:614879, Orphanet:773|MONDO:MONDO:0008972,MedGen:C1859133,OMIM:215100, Orphanet:177, Orphanet:309789 | 6 | 137235031 | 137235031 | | | NC_000006.11:g.137235031T>C | ClinGen:CA10621518 | C0034960 266500 Phytanic acid storage disease; | |