NM_001127649.3(PEX26):c.574C>T (p.Arg192Ter)Pathogenic
Peroxisome biogenesis disorder|Peroxisome biogenesis disorder 7A (Zellweger);Peroxisome biogenesis disorder 7B|not provided|Peroxisome biogenesis disorder 7A (Zellweger)
β
β
ββ2026β Residue 192
NM_001127649.3(PEX26):c.292C>T (p.Arg98Trp)Pathogenic
Peroxisome biogenesis disorder 7B|not provided|Peroxisome biogenesis disorder|Peroxisome biogenesis disorder 7A (Zellweger);Peroxisome biogenesis disorder 7B|Peroxisome biogenesis disorder 7A (Zellweger)|PEX26-related disorder
β
β
ββ2026β Residue 98
NM_001127649.3(PEX26):c.265G>A (p.Gly89Arg)Pathogenic
Peroxisome biogenesis disorder 7A (Zellweger)|Peroxisome biogenesis disorder 7A (Zellweger);Peroxisome biogenesis disorder 7B|Peroxisome biogenesis disorder
β
β
ββ2025β Residue 89
NM_001127649.3(PEX26):c.230+1G>TPathogenic
Peroxisome biogenesis disorder 7A (Zellweger)|Peroxisome biogenesis disorder 7A (Zellweger);Peroxisome biogenesis disorder 7B|Peroxisome biogenesis disorder
β
β
ββ2025
NM_001127649.3(PEX26):c.34dup (p.Leu12fs)Pathogenic
Peroxisome biogenesis disorder 7A (Zellweger)|Peroxisome biogenesis disorder 7B|Peroxisome biogenesis disorder 7A (Zellweger);Peroxisome biogenesis disorder 7B|Peroxisome biogenesis disorder|not provided
β
β
ββ2025β Residue 12
NM_001127649.3(PEX26):c.3G>A (p.Met1Ile)Pathogenic
Peroxisome biogenesis disorder 7A (Zellweger);Peroxisome biogenesis disorder 7B|not provided
β
β
ββ2025β Residue 1
NM_001127649.3(PEX26):c.2T>C (p.Met1Thr)Pathogenic
Peroxisome biogenesis disorder 7B|Peroxisome biogenesis disorder 7A (Zellweger)|not provided|Peroxisome biogenesis disorder 7A (Zellweger);Peroxisome biogenesis disorder 7B
β
β
ββ2025β Residue 1
NM_001127649.3(PEX26):c.354del (p.Val120fs)Pathogenic
Peroxisome biogenesis disorder 7A (Zellweger);Peroxisome biogenesis disorder 7B|Peroxisome biogenesis disorder 7A (Zellweger)
β
β
ββ2024β Residue 120
NM_001127649.3(PEX26):c.190_191del (p.Leu65fs)Pathogenic
Peroxisome biogenesis disorder 7A (Zellweger);Peroxisome biogenesis disorder 7B|PEX26-related disorder|Peroxisome biogenesis disorder 7A (Zellweger)
β
β
ββ2024β Residue 65
NM_001127649.3(PEX26):c.34del (p.Leu12fs)Pathogenic
Peroxisome biogenesis disorder 7A (Zellweger)
β
β
ββ2024β Residue 12
NM_001127649.3(PEX26):c.254dup (p.Cys86fs)Pathogenic
Peroxisome biogenesis disorder 7B|Peroxisome biogenesis disorder 7A (Zellweger)|Peroxisome biogenesis disorder 7A (Zellweger);Peroxisome biogenesis disorder 7B
β
β
ββ2024β Residue 86
NM_001127649.3(PEX26):c.27_58dup (p.Arg20fs)Pathogenic
Peroxisome biogenesis disorder 7A (Zellweger)|Peroxisome biogenesis disorder 7A (Zellweger);Peroxisome biogenesis disorder 7B
β
β
ββ2024β Residue 20
NM_001127649.3(PEX26):c.329_330del (p.Tyr110fs)Pathogenic
Peroxisome biogenesis disorder 7A (Zellweger);Peroxisome biogenesis disorder 7B|Peroxisome biogenesis disorder 7A (Zellweger)
β
β
ββ2024β Residue 110
NM_001127649.3(PEX26):c.613del (p.Gln205fs)Pathogenic
not provided|Peroxisome biogenesis disorder 7A (Zellweger);Peroxisome biogenesis disorder 7B
β
β
ββ2023β Residue 205
NM_001127649.3(PEX26):c.185G>A (p.Trp62Ter)Pathogenic
Peroxisome biogenesis disorder|Peroxisome biogenesis disorder 7A (Zellweger);Peroxisome biogenesis disorder 7B
β
β
ββ2023β Residue 62
NM_001127649.3(PEX26):c.667+2T>CPathogenic
Peroxisome biogenesis disorder 7A (Zellweger);Peroxisome biogenesis disorder 7B|Peroxisome biogenesis disorder
β
β
ββ2023
NM_001127649.3(PEX26):c.436C>T (p.Gln146Ter)Pathogenic
Peroxisome biogenesis disorder 7A (Zellweger)|Peroxisome biogenesis disorder 7A (Zellweger);Peroxisome biogenesis disorder 7B
β
β
ββ2023β Residue 146
NM_001127649.3(PEX26):c.384C>G (p.Tyr128Ter)Likely pathogenic
Peroxisome biogenesis disorder 7A (Zellweger)
β
βββ2026β Residue 128
NM_001127649.3(PEX26):c.493C>T (p.Gln165Ter)Pathogenic
Peroxisome biogenesis disorder 7A (Zellweger);Peroxisome biogenesis disorder 7B
β
βββ2026β Residue 165
NM_001127649.3(PEX26):c.298C>T (p.Gln100Ter)Pathogenic
Peroxisome biogenesis disorder 7A (Zellweger);Peroxisome biogenesis disorder 7B
β
βββ2025β Residue 100