NM_002617.4(PEX10):c.13_28delinsCCGCCAGCACCTGCGCCGCC (p.Ala5fs)Pathogenic
Peroxisome biogenesis disorder|Peroxisome biogenesis disorder 6A (Zellweger)|Peroxisome biogenesis disorder 6A (Zellweger);Peroxisome biogenesis disorder 6B|Zellweger spectrum disorders
β
β
ββ2026β Residue 5
NM_002617.4(PEX10):c.814_815del (p.Leu272fs)Pathogenic
Peroxisome biogenesis disorder 6B|Peroxisome biogenesis disorder 6A (Zellweger)|Peroxisome biogenesis disorder|Peroxisome biogenesis disorder, complementation group 7|not provided|Zellweger spectrum disorders|Peroxisome biogenesis disorder 6B;Peroxisome biogenesis disorder 6A (Zellweger)
β
β
ββ2026β Residue 272
NM_002617.4(PEX10):c.551del (p.Ile184fs)Pathogenic
Peroxisome biogenesis disorder 6A (Zellweger)|Peroxisome biogenesis disorder, complementation group 7
β
β
ββ2026β Residue 184
NM_002617.4(PEX10):c.704dup (p.Leu236fs)Pathogenic
Peroxisome biogenesis disorder 6A (Zellweger)|Peroxisome biogenesis disorder 6B|not provided|Peroxisome biogenesis disorder, complementation group 7|Peroxisome biogenesis disorder|Zellweger spectrum disorders|PEX10-related disorder|Peroxisome biogenesis disorder 6A (Zellweger);Peroxisome biogenesis disorder 6B
β
β
ββ2026β Residue 236
NM_002617.4(PEX10):c.338del (p.Leu113fs)Pathogenic
not provided|Peroxisome biogenesis disorder, complementation group 7|Peroxisome biogenesis disorder 6A (Zellweger)|Peroxisome biogenesis disorder|Zellweger spectrum disorders
β
β
ββ2025β Residue 113
NM_002617.4(PEX10):c.26del (p.Pro9fs)Pathogenic
Peroxisome biogenesis disorder 6A (Zellweger);Peroxisome biogenesis disorder 6B|Peroxisome biogenesis disorder, complementation group 7|Zellweger spectrum disorders
β
β
ββ2025β Residue 9
NM_002617.4(PEX10):c.730C>T (p.Arg244Ter)Pathogenic
Peroxisome biogenesis disorder 6B|Peroxisome biogenesis disorder 6A (Zellweger);Peroxisome biogenesis disorder 6B|Peroxisome biogenesis disorder 6A (Zellweger)|Peroxisome biogenesis disorder, complementation group 7|Peroxisome biogenesis disorder|Zellweger spectrum disorders|not provided
β
β
ββ2025β Residue 244
NM_002617.4(PEX10):c.776+2T>CLikely pathogenic
Peroxisome biogenesis disorder 6A (Zellweger);Peroxisome biogenesis disorder 6B|Peroxisome biogenesis disorder 6A (Zellweger)|Zellweger spectrum disorders
β
β
ββ2025
NM_002617.4(PEX10):c.830T>C (p.Leu277Pro)Likely pathogenic
Peroxisome biogenesis disorder 6B|Peroxisome biogenesis disorder 6A (Zellweger);Peroxisome biogenesis disorder 6B|Peroxisome biogenesis disorder, complementation group 7|not provided|Peroxisome biogenesis disorder 6A (Zellweger)|Zellweger spectrum disorders
β
β
ββ2025β Residue 277
NM_002617.4(PEX10):c.26dup (p.Glu10fs)Pathogenic
Peroxisome biogenesis disorder, complementation group 7|Peroxisome biogenesis disorder 6A (Zellweger)|Peroxisome biogenesis disorder 6A (Zellweger);Peroxisome biogenesis disorder 6B|Zellweger spectrum disorders
β
β
ββ2025β Residue 10
NM_002617.4(PEX10):c.912+1G>CPathogenic
Peroxisome biogenesis disorder 6A (Zellweger);Peroxisome biogenesis disorder 6B|not provided|Peroxisome biogenesis disorder 6A (Zellweger)|Peroxisome biogenesis disorder, complementation group 7|Zellweger spectrum disorders
β
β
ββ2025
NM_002617.4(PEX10):c.600+1G>APathogenic
Peroxisome biogenesis disorder 6A (Zellweger)|not provided|Peroxisome biogenesis disorder, complementation group 7|Peroxisome biogenesis disorder 6B|Peroxisome biogenesis disorder|Zellweger spectrum disorders|Peroxisome biogenesis disorder 6A (Zellweger);Peroxisome biogenesis disorder 6B|Lymphoma
β
β
ββ2025
NM_002617.4(PEX10):c.373C>T (p.Arg125Ter)Pathogenic
Peroxisome biogenesis disorder 6B|Peroxisome biogenesis disorder 6A (Zellweger);Peroxisome biogenesis disorder 6B|Peroxisome biogenesis disorder, complementation group 7|Peroxisome biogenesis disorder|Peroxisome biogenesis disorder 6A (Zellweger)|Zellweger spectrum disorders
β
β
ββ2025β Residue 125
NM_002617.4(PEX10):c.587del (p.Thr196fs)Likely pathogenic
Peroxisome biogenesis disorder|Peroxisome biogenesis disorder 6A (Zellweger)|Zellweger spectrum disorders
β
β
ββ2025β Residue 196
NM_002617.4(PEX10):c.4del (p.Ala2fs)Pathogenic
not provided|Peroxisome biogenesis disorder 6B|Zellweger spectrum disorders|Peroxisome biogenesis disorder|Peroxisome biogenesis disorder, complementation group 7|PEX10-related disorder|Peroxisome biogenesis disorder 6A (Zellweger)
β
β
ββ2025β Residue 2
NM_002617.4(PEX10):c.3G>A (p.Met1Ile)Pathogenic
Peroxisome biogenesis disorder, complementation group 7|Zellweger spectrum disorders
β
β
ββ2025β Residue 1
NM_002617.4(PEX10):c.346_363delinsTGGGCCCCTG (p.Glu116fs)Pathogenic
Peroxisome biogenesis disorder 6A (Zellweger)|Peroxisome biogenesis disorder|Zellweger spectrum disorders
β
β
ββ2025β Residue 116
NM_002617.4(PEX10):c.835G>T (p.Glu279Ter)Pathogenic
not provided|Peroxisome biogenesis disorder, complementation group 7|Zellweger spectrum disorders|Peroxisome biogenesis disorder|Peroxisome biogenesis disorder 6A (Zellweger)
β
β
ββ2025β Residue 279
NM_002617.4(PEX10):c.814_815insG (p.Leu272fs)Pathogenic
Peroxisome biogenesis disorder, complementation group 7|Zellweger spectrum disorders
β
β
ββ2025β Residue 272
NM_002617.4(PEX10):c.1A>G (p.Met1Val)Pathogenic
not provided|Peroxisome biogenesis disorder 6A (Zellweger);Peroxisome biogenesis disorder 6B|Peroxisome biogenesis disorder, complementation group 7|Zellweger spectrum disorders|Peroxisome biogenesis disorder 6A (Zellweger)
β
β
ββ2025β Residue 1