NM_000288.4(PEX7):c.130+1G>APathogenic
Peroxisome biogenesis disorder 9B|Rhizomelic chondrodysplasia punctata type 1|Rhizomelic chondrodysplasia punctata|Retinal disorder
β
β
ββ2026
NM_000288.4(PEX7):c.875T>A (p.Leu292Ter)Pathogenic
Rhizomelic chondrodysplasia punctata type 1|Peroxisome biogenesis disorder 9B;Rhizomelic chondrodysplasia punctata type 1|not provided|PEX7-related disorder|Peroxisome biogenesis disorder 9B|Peroxisome biogenesis disorder 9B;Phytanic acid storage disease;Rhizomelic chondrodysplasia punctata type 1|Retinal disorder|Rhizomelic chondrodysplasia punctata
β
β
ββ2026β Residue 292
NM_000288.4(PEX7):c.183del (p.Phe61fs)Pathogenic
Peroxisome biogenesis disorder 9B;Rhizomelic chondrodysplasia punctata type 1|Rhizomelic chondrodysplasia punctata type 1|Peroxisome biogenesis disorder 9B|not provided|Rhizomelic chondrodysplasia punctata
β
β
ββ2026β Residue 61
NM_000288.4(PEX7):c.429del (p.Val144fs)Pathogenic
Rhizomelic chondrodysplasia punctata type 1|Peroxisome biogenesis disorder 9B|Rhizomelic chondrodysplasia punctata
β
β
ββ2026β Residue 144
NM_000288.4(PEX7):c.116_130+20delLikely pathogenic
Peroxisome biogenesis disorder 9B
β
β
ββ2026
NM_000288.4(PEX7):c.903+1G>CPathogenic
Rhizomelic chondrodysplasia punctata type 1|Peroxisome biogenesis disorder 9B|PEX7-related disorder|not provided|Rhizomelic chondrodysplasia punctata|Peroxisome biogenesis disorder 9B;Rhizomelic chondrodysplasia punctata type 1
β
β
ββ2026
NM_000288.4(PEX7):c.120C>G (p.Tyr40Ter)Pathogenic
Peroxisome biogenesis disorder 9B|Rhizomelic chondrodysplasia punctata type 1|PEX7-related disorder|Peroxisome biogenesis disorder 9B;Phytanic acid storage disease;Rhizomelic chondrodysplasia punctata type 1|Rhizomelic chondrodysplasia punctata|Inborn genetic diseases|not provided|Peroxisome biogenesis disorder 9B;Rhizomelic chondrodysplasia punctata type 1
β
β
ββ2026β Residue 40
NM_000288.4(PEX7):c.804-2A>CPathogenic
Peroxisome biogenesis disorder 9B|Rhizomelic chondrodysplasia punctata
β
β
ββ2025
NM_000288.4(PEX7):c.468_471dup (p.Ile158fs)Likely pathogenic
Peroxisome biogenesis disorder 9B|PEX7-related disorder|Rhizomelic chondrodysplasia punctata
β
β
ββ2025β Residue 158
NM_000288.4(PEX7):c.649G>A (p.Gly217Arg)Pathogenic
Rhizomelic chondrodysplasia punctata type 1|Peroxisome biogenesis disorder 9B|not provided|Rhizomelic chondrodysplasia punctata|Inborn genetic diseases|Peroxisome biogenesis disorder 9B;Rhizomelic chondrodysplasia punctata type 1
β
β
ββ2025β Residue 217
NM_000288.4(PEX7):c.188+1G>CPathogenic
Rhizomelic chondrodysplasia punctata type 1|Peroxisome biogenesis disorder 9B|Peroxisome biogenesis disorder 9B;Phytanic acid storage disease;Rhizomelic chondrodysplasia punctata type 1|not provided|Rhizomelic chondrodysplasia punctata
β
β
ββ2025
NM_000288.4(PEX7):c.345T>G (p.Tyr115Ter)Pathogenic
Peroxisome biogenesis disorder 9B|Rhizomelic chondrodysplasia punctata type 1|Rhizomelic chondrodysplasia punctata
β
β
ββ2025β Residue 115
NM_000288.4(PEX7):c.188+1G>APathogenic
Rhizomelic chondrodysplasia punctata type 1|Peroxisome biogenesis disorder 9B|Peroxisome biogenesis disorder 9B;Rhizomelic chondrodysplasia punctata type 1|Rhizomelic chondrodysplasia punctata
β
β
ββ2025
NM_000288.4(PEX7):c.618G>A (p.Trp206Ter)Pathogenic
Rhizomelic chondrodysplasia punctata type 1|not provided|Peroxisome biogenesis disorder 9B|Rhizomelic chondrodysplasia punctata
β
β
ββ2025β Residue 206
NM_000288.4(PEX7):c.340-1G>TLikely pathogenic
Peroxisome biogenesis disorder 9B|Melanoma|Rhizomelic chondrodysplasia punctata
β
β
ββ2025
NM_000288.4(PEX7):c.277C>T (p.Gln93Ter)Pathogenic
Rhizomelic chondrodysplasia punctata type 1|Rhizomelic chondrodysplasia punctata|Peroxisome biogenesis disorder 9B|Connective tissue disorder|Phytanic acid storage disease;Rhizomelic chondrodysplasia punctata type 1;Peroxisome biogenesis disorder 9B
β
β
ββ2025β Residue 93
NM_000288.4(PEX7):c.40A>C (p.Thr14Pro)Pathogenic
Peroxisome biogenesis disorder 9B|Rhizomelic chondrodysplasia punctata type 1|Peroxisome biogenesis disorder 9B;Rhizomelic chondrodysplasia punctata type 1|Rhizomelic chondrodysplasia punctata
β
β
ββ2025β Residue 14
NM_000288.4(PEX7):c.13_19dup (p.Gly7fs)Pathogenic
Peroxisome biogenesis disorder 9B|Rhizomelic chondrodysplasia punctata type 1|Rhizomelic chondrodysplasia punctata
β
β
ββ2025β Residue 7
NM_000288.4(PEX7):c.653C>T (p.Ala218Val)Pathogenic
Rhizomelic chondrodysplasia punctata type 1|Peroxisome biogenesis disorder 9B|not provided|Rhizomelic chondrodysplasia punctata|Peroxisome biogenesis disorder 9B;Phytanic acid storage disease;Rhizomelic chondrodysplasia punctata type 1|PEX7-related disorder
β
β
ββ2025β Residue 218
NM_000288.4(PEX7):c.517del (p.Ser173fs)Pathogenic
Rhizomelic chondrodysplasia punctata|Peroxisome biogenesis disorder 9B
β
β
ββ2025β Residue 173