| | | Single nucleotide variant (missense variant +2 more) | Peroxisome biogenesis disorder | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Deletion | not provided | |
| | | Duplication | not provided | |
| | | Deletion | Peroxisome biogenesis disorder, complementation group 7 | |
| | | Deletion | Peroxisome biogenesis disorder, complementation group 7 | |
| | | Deletion | Shprintzen-Goldberg syndrome | |
| | | Deletion (frameshift variant +1 more) | Peroxisome biogenesis disorder 6A (Zellweger) | |
| | | Single nucleotide variant (splice acceptor variant) | Peroxisome biogenesis disorder 6A (Zellweger) | |
| | | Single nucleotide variant (nonsense +1 more) | Peroxisome biogenesis disorder 6A (Zellweger) | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Copy number gain | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | PEX10-related disorder | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | PEX10-related disorder | |
| | | Single nucleotide variant (intron variant) | PEX10-related disorder | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | PEX10-related disorder | |
| | | Single nucleotide variant (intron variant) | Peroxisome biogenesis disorder, complementation group 7 | |
| | | Single nucleotide variant (missense variant +1 more) | Peroxisome biogenesis disorder, complementation group 7 | |
| | | Single nucleotide variant (intron variant) | Peroxisome biogenesis disorder, complementation group 7 | |
| | | Single nucleotide variant (intron variant) | Peroxisome biogenesis disorder, complementation group 7 | |
| | | Single nucleotide variant (synonymous variant +2 more) | Peroxisome biogenesis disorder, complementation group 7 | |
| | | Single nucleotide variant (intron variant) | PEX10-related disorder +1 more | |
| | | Single nucleotide variant (intron variant) | Peroxisome biogenesis disorder, complementation group 7 | |
| | | Single nucleotide variant (intron variant) | Peroxisome biogenesis disorder, complementation group 7 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Peroxisome biogenesis disorder, complementation group 7 | |
| | | Deletion (inframe_deletion +1 more) | Peroxisome biogenesis disorder, complementation group 7 | |
| | | Deletion (intron variant) | Peroxisome biogenesis disorder, complementation group 7 | |
| | | Single nucleotide variant (synonymous variant +2 more) | Peroxisome biogenesis disorder, complementation group 7 | |
| | | Single nucleotide variant (intron variant) | Peroxisome biogenesis disorder, complementation group 7 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Peroxisome biogenesis disorder, complementation group 7 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Peroxisome biogenesis disorder, complementation group 7 | |
| | | Deletion (intron variant) | Peroxisome biogenesis disorder, complementation group 7 | |
| | | Single nucleotide variant (intron variant) | Peroxisome biogenesis disorder, complementation group 7 | |
| | | Single nucleotide variant (synonymous variant +2 more) | Peroxisome biogenesis disorder, complementation group 7 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Peroxisome biogenesis disorder, complementation group 7 | |
| | | Single nucleotide variant (missense variant +1 more) | Peroxisome biogenesis disorder, complementation group 7 | |
| | | Single nucleotide variant (intron variant) | Peroxisome biogenesis disorder, complementation group 7 | |
| | | Deletion (frameshift variant +1 more) | Peroxisome biogenesis disorder 6A (Zellweger) +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Peroxisome biogenesis disorder, complementation group 7 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Peroxisome biogenesis disorder, complementation group 7 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Peroxisome biogenesis disorder, complementation group 7 | |
| | | Single nucleotide variant (intron variant) | Peroxisome biogenesis disorder, complementation group 7 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Peroxisome biogenesis disorder, complementation group 7 | |
| | | Deletion (frameshift variant +2 more) | Peroxisome biogenesis disorder 6A (Zellweger) +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | Peroxisome biogenesis disorder, complementation group 7 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Peroxisome biogenesis disorder, complementation group 7 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Peroxisome biogenesis disorder, complementation group 7 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Peroxisome biogenesis disorder, complementation group 7 | |
| | | Single nucleotide variant (intron variant) | Peroxisome biogenesis disorder, complementation group 7 | |
| | | Single nucleotide variant (synonymous variant +2 more) | Peroxisome biogenesis disorder, complementation group 7 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Peroxisome biogenesis disorder, complementation group 7 | |
| | | Single nucleotide variant (intron variant) | Peroxisome biogenesis disorder, complementation group 7 | |
| | | Deletion (frameshift variant +2 more) | Peroxisome biogenesis disorder, complementation group 7 | |
| | | Single nucleotide variant (intron variant) | Peroxisome biogenesis disorder, complementation group 7 | |
| | | Single nucleotide variant (intron variant) | Peroxisome biogenesis disorder, complementation group 7 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Peroxisome biogenesis disorder, complementation group 7 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Peroxisome biogenesis disorder, complementation group 7 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Peroxisome biogenesis disorder, complementation group 7 | |
| | | Single nucleotide variant (missense variant +1 more) | Peroxisome biogenesis disorder, complementation group 7 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Peroxisome biogenesis disorder, complementation group 7 | |
| | | Single nucleotide variant (intron variant) | Peroxisome biogenesis disorder, complementation group 7 | |
| | | Single nucleotide variant (synonymous variant +2 more) | Peroxisome biogenesis disorder, complementation group 7 | |
| | | Single nucleotide variant (intron variant) | Peroxisome biogenesis disorder, complementation group 7 | |
| | | Single nucleotide variant (intron variant) | Peroxisome biogenesis disorder, complementation group 7 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Peroxisome biogenesis disorder, complementation group 7 | |
| | | Deletion (intron variant) | Peroxisome biogenesis disorder, complementation group 7 | |
| | | Single nucleotide variant (synonymous variant +2 more) | Peroxisome biogenesis disorder, complementation group 7 | |
| | | Single nucleotide variant (nonsense +1 more) | Peroxisome biogenesis disorder, complementation group 7 | |
| | | Single nucleotide variant (nonsense +1 more) | Peroxisome biogenesis disorder, complementation group 7 | |
| | | Deletion (nonsense +1 more) | Peroxisome biogenesis disorder, complementation group 7 | |
| | | Deletion (frameshift variant +1 more) | Peroxisome biogenesis disorder, complementation group 7 | |
| | | Deletion (frameshift variant +2 more) | Peroxisome biogenesis disorder, complementation group 7 | |
| | | Duplication (frameshift variant +1 more) | Peroxisome biogenesis disorder, complementation group 7 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Peroxisome biogenesis disorder, complementation group 7 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Peroxisome biogenesis disorder, complementation group 7 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Peroxisome biogenesis disorder, complementation group 7 | |
| | | Single nucleotide variant (synonymous variant +2 more) | Peroxisome biogenesis disorder, complementation group 7 | |
| | | Deletion (frameshift variant +1 more) | Peroxisome biogenesis disorder, complementation group 7 | |
| | | Single nucleotide variant (missense variant +2 more) | Peroxisome biogenesis disorder, complementation group 7 | |
| | | Single nucleotide variant (intron variant) | Peroxisome biogenesis disorder, complementation group 7 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Peroxisome biogenesis disorder, complementation group 7 | |
| | | Single nucleotide variant (synonymous variant +2 more) | Peroxisome biogenesis disorder, complementation group 7 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Peroxisome biogenesis disorder, complementation group 7 | |
| | | Deletion (frameshift variant +2 more) | Peroxisome biogenesis disorder, complementation group 7 | |
| | | Deletion (frameshift variant +1 more) | Peroxisome biogenesis disorder, complementation group 7 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Peroxisome biogenesis disorder, complementation group 7 | |
| | | Single nucleotide variant (missense variant +2 more) | Peroxisome biogenesis disorder, complementation group 7 | |
| | | Single nucleotide variant (intron variant) | Peroxisome biogenesis disorder, complementation group 7 | |
| | | Single nucleotide variant (intron variant) | Peroxisome biogenesis disorder, complementation group 7 | |
| | | Single nucleotide variant (nonsense +2 more) | Peroxisome biogenesis disorder, complementation group 7 | |
| | | Single nucleotide variant (non-coding transcript variant +2 more) | Peroxisome biogenesis disorder, complementation group 7 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Peroxisome biogenesis disorder, complementation group 7 | |
| | | Deletion (intron variant) | Peroxisome biogenesis disorder, complementation group 7 | |
| | | Single nucleotide variant (intron variant) | Peroxisome biogenesis disorder, complementation group 7 | |
| | | Deletion (frameshift variant +1 more) | Peroxisome biogenesis disorder, complementation group 7 | |