| | GATAD1, PEX1 (R1275* +2 more) | Single nucleotide variant (nonsense) | Zellweger spectrum disorders +2 more | |
| | GATAD1, PEX1 (S1062fs +2 more) | Duplication (frameshift variant) | Zellweger spectrum disorders +1 more | |
| | | Single nucleotide variant (splice acceptor variant) | Peroxisome biogenesis disorder 1A (Zellweger) | |
| | | Single nucleotide variant (splice acceptor variant) | Peroxisome biogenesis disorder 1A (Zellweger) | |
| | | Duplication (splice donor variant) | Zellweger spectrum disorders +1 more | |
| | PEX1, GATAD1 (S1246fs +2 more) | Duplication (frameshift variant) | Peroxisome biogenesis disorder 1A (Zellweger) | |
| | GATAD1, PEX1 (Q1174fs +2 more) | Microsatellite (frameshift variant) | Peroxisome biogenesis disorder +5 more | GPathogenic/Likely pathogenic |
| | GATAD1, PEX1 (S1001fs +2 more) | Deletion (frameshift variant) | Peroxisome biogenesis disorder 1A (Zellweger) | |
| | PEX1, GATAD1 (D1137fs +2 more) | Microsatellite (frameshift variant) | Peroxisome biogenesis disorder 1A (Zellweger) | |
| | GATAD1, PEX1 (Q1192* +2 more) | Single nucleotide variant (nonsense) | PEX1-related disorder +3 more | GPathogenic/Likely pathogenic |
| | GATAD1, PEX1 (E1183* +2 more) | Single nucleotide variant (nonsense) | Peroxisome biogenesis disorder 1B +1 more | |
| | GATAD1, PEX1 (A1096fs +2 more) | Microsatellite (frameshift variant) | Peroxisome biogenesis disorder 1A (Zellweger) | |
| | GATAD1, PEX1 (S1152fs +2 more) | Microsatellite (frameshift variant) | Zellweger spectrum disorders +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant) | Peroxisome biogenesis disorder 1A (Zellweger) | |
| | | Deletion (nonsense) | Peroxisome biogenesis disorder 1A (Zellweger) | |
| | GATAD1, PEX1 (L1024fs +2 more) | Deletion (frameshift variant) | Peroxisome biogenesis disorder 1B +1 more | |
| | | Single nucleotide variant (splice acceptor variant) | Zellweger spectrum disorders +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant) | Peroxisome biogenesis disorder 1A (Zellweger) | |
| | | Deletion (inframe_deletion) | Peroxisome biogenesis disorder 1A (Zellweger) | |
| | PEX1, GATAD1 (L1026P +2 more) | Single nucleotide variant (missense variant) | Zellweger spectrum disorders +4 more | GConflicting classifications of pathogenicity |
| | GATAD1, PEX1 (R1013H +2 more) | Single nucleotide variant (missense variant) | Zellweger spectrum disorders +3 more | GConflicting classifications of pathogenicity |
| | GATAD1, PEX1 (R998* +2 more) | Single nucleotide variant (nonsense) | Heimler syndrome 1 +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice acceptor variant) | Peroxisome biogenesis disorder 1A (Zellweger) +3 more | |
| | | Single nucleotide variant (splice donor variant) | Peroxisome biogenesis disorder +5 more | GPathogenic/Likely pathogenic |
| | PEX1, GATAD1 (L917fs +2 more) | Deletion (frameshift variant) | Peroxisome biogenesis disorder +3 more | GPathogenic/Likely pathogenic |
| | GATAD1, PEX1 (G973fs +2 more) | Deletion (frameshift variant) | Peroxisome biogenesis disorder +6 more | GPathogenic/Likely pathogenic |
| | GATAD1, PEX1 (R959* +2 more) | Single nucleotide variant (nonsense) | Peroxisome biogenesis disorder 1A (Zellweger) +4 more | GPathogenic/Likely pathogenic |
| | GATAD1, PEX1 (T746fs +2 more) | Duplication (frameshift variant) | Peroxisome biogenesis disorder 1A (Zellweger) +3 more | GPathogenic/Likely pathogenic |
| | GATAD1, PEX1 (H743fs +2 more) | Duplication (frameshift variant) | Zellweger spectrum disorders +1 more | GPathogenic/Likely pathogenic |
| | GATAD1, PEX1 (R949Q +2 more) | Single nucleotide variant (missense variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | GATAD1, PEX1 (R948Q +2 more) | Single nucleotide variant (missense variant) | Zellweger spectrum disorders +3 more | |
| | PEX1, GATAD1 (D940del +2 more) | Microsatellite (inframe_deletion) | Peroxisome biogenesis disorder 1A (Zellweger) | |
| | GATAD1, PEX1 (P934fs +2 more) | Duplication (frameshift variant) | Peroxisome biogenesis disorder 1A (Zellweger) +4 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Zellweger spectrum disorders +2 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Peroxisome biogenesis disorder 1A (Zellweger) +4 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Peroxisome biogenesis disorder 1B +1 more | |
| | | Single nucleotide variant (splice acceptor variant) | Zellweger spectrum disorders +2 more | |
| | | Single nucleotide variant (nonsense) | Zellweger spectrum disorders +3 more | GPathogenic/Likely pathogenic |
| | | Microsatellite (inframe_deletion) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Peroxisome biogenesis disorder 1B +1 more | |
| | | Deletion (inframe_deletion) | Peroxisome biogenesis disorder 1A (Zellweger) +1 more | |
| | | Duplication (frameshift variant) | Peroxisome biogenesis disorder 1A (Zellweger) | |
| | | Duplication (frameshift variant) | Peroxisome biogenesis disorder 1A (Zellweger) +1 more | |
| | | Duplication (inframe_insertion) | Peroxisome biogenesis disorder 1A (Zellweger) | |
| | | Microsatellite (frameshift variant) | Peroxisome biogenesis disorder +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Peroxisome biogenesis disorder +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Peroxisome biogenesis disorder 1A (Zellweger) +1 more | |
| | | Deletion (inframe_deletion) | Peroxisome biogenesis disorder 1A (Zellweger) | |
| | | Single nucleotide variant (nonsense) | Zellweger spectrum disorders +3 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Peroxisome biogenesis disorder 1B +1 more | |
| | | Duplication (inframe_insertion) | Zellweger spectrum disorders +1 more | |
| | | Single nucleotide variant (nonsense) | Zellweger spectrum disorders +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant +1 more) | Zellweger spectrum disorders +1 more | |
| | | Deletion (inframe_deletion +1 more) | Peroxisome biogenesis disorder 1A (Zellweger) | |
| | | Microsatellite (frameshift variant +1 more) | Peroxisome biogenesis disorder 1A (Zellweger) +3 more | GPathogenic/Likely pathogenic |
| | | Deletion (inframe_deletion +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Peroxisome biogenesis disorder 1B +4 more | |
| | | Duplication (frameshift variant +1 more) | Peroxisome biogenesis disorder 1B +1 more | |
| | | Duplication (frameshift variant +1 more) | Peroxisome biogenesis disorder 1A (Zellweger) +2 more | GPathogenic/Likely pathogenic |
| | | Indel (frameshift variant +1 more) | Peroxisome biogenesis disorder 1B +1 more | |
| | | Single nucleotide variant (nonsense +1 more) | Peroxisome biogenesis disorder 1B +1 more | |
| | | Deletion (frameshift variant +1 more) | Zellweger spectrum disorders +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Heimler syndrome 1 +4 more | GPathogenic/Likely pathogenic |
| | | Deletion (nonsense) | Zellweger spectrum disorders +3 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | not provided +6 more | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant) | Peroxisome biogenesis disorder 1A (Zellweger) +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Zellweger spectrum disorders +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Peroxisome biogenesis disorder 1B +1 more | |
| | | Single nucleotide variant (missense variant) | Peroxisome biogenesis disorder 1A (Zellweger) | |
| | | Microsatellite (frameshift variant) | Peroxisome biogenesis disorder 1A (Zellweger) +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | Peroxisome biogenesis disorder 1A (Zellweger) | |
| | | Single nucleotide variant (splice donor variant) | Zellweger spectrum disorders +2 more | |
| | | Single nucleotide variant (splice donor variant) | Peroxisome biogenesis disorder 1A (Zellweger) +3 more | GPathogenic/Likely pathogenic |
| | | Deletion (inframe_deletion) | Peroxisome biogenesis disorder 1A (Zellweger) | |
| | | Single nucleotide variant (splice donor variant) | Peroxisome biogenesis disorder 1A (Zellweger) | |
| | | Single nucleotide variant (splice donor variant) | Peroxisome biogenesis disorder 1A (Zellweger) +3 more | |
| | | Microsatellite (inframe_deletion) | Peroxisome biogenesis disorder 1A (Zellweger) | |
| | | Single nucleotide variant (nonsense) | Peroxisome biogenesis disorder 1A (Zellweger) +3 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Heimler syndrome 1 +2 more | |
| | | Duplication (frameshift variant) | Zellweger spectrum disorders +2 more | GPathogenic/Likely pathogenic |
| | | Microsatellite (frameshift variant) | Peroxisome biogenesis disorder 1A (Zellweger) +2 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Peroxisome biogenesis disorder 1A (Zellweger) | |
| | | Single nucleotide variant (nonsense) | Peroxisome biogenesis disorder 1A (Zellweger) | |
| | | Single nucleotide variant (splice donor variant) | Peroxisome biogenesis disorder 1A (Zellweger) | |
| | | Deletion (frameshift variant) | Peroxisome biogenesis disorder 1B +1 more | |
| | | Deletion (frameshift variant) | Zellweger spectrum disorders +1 more | GPathogenic/Likely pathogenic |
| | | Deletion (inframe_deletion) | Peroxisome biogenesis disorder 1A (Zellweger) | |
| | | Deletion (frameshift variant) | not provided +4 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Peroxisome biogenesis disorder 1A (Zellweger) +2 more | GPathogenic/Likely pathogenic |
| | | Microsatellite (frameshift variant) | Peroxisome biogenesis disorder 1B +1 more | |
| | | Microsatellite (frameshift variant) | Peroxisome biogenesis disorder 1A (Zellweger) +2 more | GPathogenic/Likely pathogenic |
| | | Microsatellite (nonsense) | Peroxisome biogenesis disorder 1B +1 more | |
| | | Deletion (frameshift variant) | Peroxisome biogenesis disorder +6 more | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant) | Peroxisome biogenesis disorder 1A (Zellweger) | |
| | | Deletion (frameshift variant) | Peroxisome biogenesis disorder 1B +1 more | |
| | | Deletion (frameshift variant) | Peroxisome biogenesis disorder +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Zellweger spectrum disorders +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Peroxisome biogenesis disorder 1A (Zellweger) | |
| | | Single nucleotide variant (nonsense +1 more) | Zellweger spectrum disorders +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense +1 more) | Peroxisome biogenesis disorder 1B +4 more | GPathogenic/Likely pathogenic |