NM_002618.4(PEX13):c.977T>C (p.Ile326Thr)Likely pathogenic
Peroxisome biogenesis disorder 11B|Peroxisome biogenesis disorder 11A (Zellweger)|not provided|Peroxisome biogenesis disorder
β
β
ββ2025β Residue 326
NM_002618.4(PEX13):c.508C>T (p.Arg170Ter)Pathogenic
not provided|Peroxisome biogenesis disorder|Peroxisome biogenesis disorder 11A (Zellweger)
β
β
ββ2024β Residue 170
NM_002618.4(PEX13):c.391C>T (p.Gln131Ter)Pathogenic
Peroxisome biogenesis disorder|Peroxisome biogenesis disorder 11A (Zellweger)
β
β
ββ2024β Residue 131
NM_002618.4(PEX13):c.573_582del (p.Arg193fs)Pathogenic
PEX13-related disorder|Peroxisome biogenesis disorder
β
β
ββ2023β Residue 193
NM_002618.4(PEX13):c.367G>T (p.Glu123Ter)Pathogenic
Peroxisome biogenesis disorder 11A (Zellweger)|Peroxisome biogenesis disorder 11B
β
β
ββ2023β Residue 123
NM_002618.4(PEX13):c.465T>G (p.Tyr155Ter)Pathogenic
Peroxisome biogenesis disorder 11A (Zellweger)|not provided
β
β
ββ2021β Residue 155
NM_002618.4(PEX13):c.586C>T (p.Gln196Ter)Pathogenic
Peroxisome biogenesis disorder 11A (Zellweger)
β
βββ2026β Residue 196
NM_002618.4(PEX13):c.544_545insAAT (p.Phe182Ter)Pathogenic
Peroxisome biogenesis disorder 11A (Zellweger)
β
βββ2026β Residue 182
NM_002618.4(PEX13):c.592del (p.Met198fs)Pathogenic
Peroxisome biogenesis disorder 11A (Zellweger)
β
βββ2025β Residue 198
NM_002618.4(PEX13):c.46C>T (p.Arg16Ter)Pathogenic
Peroxisome biogenesis disorder 11A (Zellweger)
β
βββ2025β Residue 16
NM_002618.4(PEX13):c.939G>A (p.Trp313Ter)Pathogenic
Peroxisome biogenesis disorder 11A (Zellweger)
β
βββ2025β Residue 313
NM_002618.4(PEX13):c.296del (p.Gly99fs)Pathogenic
Peroxisome biogenesis disorder 4A (Zellweger)
β
βββ2025β Residue 99
NM_002618.4(PEX13):c.531del (p.Val178fs)Likely pathogenic
PEX13-related disorder
β
βββ2025β Residue 178
NM_002618.4(PEX13):c.913+1G>TPathogenic
Peroxisome biogenesis disorder 11A (Zellweger)
β
βββ2025
NM_002618.4(PEX13):c.294T>G (p.Tyr98Ter)Pathogenic
Peroxisome biogenesis disorder 11A (Zellweger)
β
βββ2024β Residue 98
NM_002618.4(PEX13):c.35G>A (p.Trp12Ter)Likely pathogenic
Peroxisome biogenesis disorder 11A (Zellweger);Peroxisome biogenesis disorder 11B
β
βββ2024β Residue 12
NM_002618.4(PEX13):c.213del (p.Phe71fs)Pathogenic
Peroxisome biogenesis disorder 11A (Zellweger)
β
βββ2024β Residue 71
NM_002618.4(PEX13):c.744C>A (p.Tyr248Ter)Likely pathogenic
Peroxisome biogenesis disorder 11A (Zellweger);Peroxisome biogenesis disorder 11B
β
βββ2024β Residue 248
NM_002618.4(PEX13):c.148del (p.Arg50fs)Pathogenic
Peroxisome biogenesis disorder 11A (Zellweger)
β
βββ2024β Residue 50
NM_002618.4(PEX13):c.201dup (p.Val68fs)Pathogenic
Peroxisome biogenesis disorder 11A (Zellweger)
β
βββ2024β Residue 68