| | A2ML1, A2ML1-AS1 +477 more | Deletion | Tumoral calcinosis, hyperphosphatemic, familial, 1 | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130007649, LOC130007650 +1258 more | Copy number gain | See cases | |
| | LOC124625919, LOC124625920 +1009 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC126861648, LOC126861649 +4836 more | Copy number gain | See cases | |
| | LOC130007425, LOC130007426 +1257 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130007339, LOC130007340 +698 more | Copy number gain | See cases | |
| | LOC130007275, LOC130007276 +97 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Peroxisome biogenesis disorder 2A (Zellweger) | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Peroxisome biogenesis disorder 2A (Zellweger) | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Peroxisome biogenesis disorder 2A (Zellweger) | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Peroxisome biogenesis disorder 2A (Zellweger) | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Peroxisome biogenesis disorder 2A (Zellweger) | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Peroxisome biogenesis disorder 2A (Zellweger) | |
| | | Insertion (5 prime UTR variant +1 more) | Peroxisome biogenesis disorder 1A (Zellweger) | |
| | | Indel (5 prime UTR variant +1 more) | Peroxisome biogenesis disorder 1A (Zellweger) | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Peroxisome biogenesis disorder 2A (Zellweger) | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Peroxisome biogenesis disorder 2A (Zellweger) | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Peroxisome biogenesis disorder 2A (Zellweger) | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Peroxisome biogenesis disorder 2A (Zellweger) | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Peroxisome biogenesis disorder 2A (Zellweger) | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Peroxisome biogenesis disorder 2A (Zellweger) | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Peroxisome biogenesis disorder 2A (Zellweger) | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Peroxisome biogenesis disorder 2A (Zellweger) | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Peroxisome biogenesis disorder 2A (Zellweger) | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Peroxisome biogenesis disorder 2A (Zellweger) | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Peroxisome biogenesis disorder 2A (Zellweger) | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Peroxisome biogenesis disorder 2A (Zellweger) | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Peroxisome biogenesis disorder 2B | |
| | | Single nucleotide variant (synonymous variant) | Peroxisome biogenesis disorder 2B | |
| | | Single nucleotide variant (synonymous variant) | Peroxisome biogenesis disorder 2B | |
| | | Single nucleotide variant (missense variant) | Peroxisome biogenesis disorder 2B | |
| | | Single nucleotide variant (synonymous variant) | PEX5-related condition | |
| | | Single nucleotide variant (missense variant) | Peroxisome biogenesis disorder 2B | |
| | | Single nucleotide variant (missense variant) | Peroxisome biogenesis disorder 2B | |
| | | Single nucleotide variant (missense variant) | Peroxisome biogenesis disorder 2B | |
| | | Single nucleotide variant (missense variant) | Peroxisome biogenesis disorder 2B | |
| | | Deletion (frameshift variant) | Peroxisome biogenesis disorder 2B | |
| | | Single nucleotide variant (missense variant) | Peroxisome biogenesis disorder 2B | |
| | | Single nucleotide variant (synonymous variant) | Peroxisome biogenesis disorder 2B | |
| | | Single nucleotide variant (missense variant) | Peroxisome biogenesis disorder 2B +1 more | |
| | | Single nucleotide variant (synonymous variant) | Peroxisome biogenesis disorder 2B | |
| | | Single nucleotide variant (synonymous variant) | Peroxisome biogenesis disorder 2B | |
| | | Single nucleotide variant (missense variant) | Peroxisome biogenesis disorder 2B +1 more | |
| | | Single nucleotide variant (missense variant) | Peroxisome biogenesis disorder 2B | |
| | | Single nucleotide variant (missense variant) | Peroxisome biogenesis disorder 2B | |
| | | Single nucleotide variant (missense variant) | Peroxisome biogenesis disorder 2B | |
| | | Single nucleotide variant (synonymous variant) | Peroxisome biogenesis disorder 2B | |
| | | Single nucleotide variant (missense variant) | Peroxisome biogenesis disorder 2B | |
| | | Single nucleotide variant (synonymous variant) | PEX5-related condition +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | PEX5-related condition +2 more | GConflicting classifications of pathogenicity |
| | | Duplication (frameshift variant) | Peroxisome biogenesis disorder 2B | |
| | | Single nucleotide variant (synonymous variant) | Peroxisome biogenesis disorder 2B | |
| | | Single nucleotide variant (synonymous variant) | Peroxisome biogenesis disorder 2B | |
| | | Single nucleotide variant (missense variant) | Peroxisome biogenesis disorder 2B | |
| | | Single nucleotide variant (synonymous variant) | Peroxisome biogenesis disorder 2B | |
| | | Single nucleotide variant (synonymous variant) | PEX5-related condition +1 more | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | Peroxisome biogenesis disorder 2B | |
| | | Single nucleotide variant (synonymous variant) | Peroxisome biogenesis disorder 2B | |
| | | Single nucleotide variant (nonsense) | Peroxisome biogenesis disorder 2B | |
| | | Single nucleotide variant (missense variant) | Peroxisome biogenesis disorder 2B +1 more | |
| | | Single nucleotide variant (missense variant) | Peroxisome biogenesis disorder 2B | |
| | | Single nucleotide variant (missense variant) | Peroxisome biogenesis disorder 2B | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Insertion (frameshift variant) | Peroxisome biogenesis disorder 2B | |
| | | Single nucleotide variant (missense variant) | Peroxisome biogenesis disorder 2B | |
| | | Deletion (frameshift variant) | Peroxisome biogenesis disorder 2B | |
| | | Single nucleotide variant (missense variant) | Peroxisome biogenesis disorder 2A (Zellweger) | |
| | | Single nucleotide variant (missense variant) | Peroxisome biogenesis disorder 2B | |
| | | Single nucleotide variant (missense variant) | Peroxisome biogenesis disorder 2B | |
| | | Single nucleotide variant (synonymous variant) | Peroxisome biogenesis disorder 2B | |
| | | Single nucleotide variant (missense variant) | Peroxisome biogenesis disorder 2B | |
| | | Single nucleotide variant (synonymous variant) | Peroxisome biogenesis disorder 2B | |
| | | Single nucleotide variant (synonymous variant) | Peroxisome biogenesis disorder 2B | |
| | | Single nucleotide variant (synonymous variant) | Peroxisome biogenesis disorder 2B | |
| | | Single nucleotide variant (synonymous variant) | Peroxisome biogenesis disorder 2B | |
| | | Single nucleotide variant (missense variant) | Peroxisome biogenesis disorder 2B | |
| | | Single nucleotide variant (missense variant) | Peroxisome biogenesis disorder 2B | |
| | | Single nucleotide variant (missense variant) | Peroxisome biogenesis disorder 2B | |
| | | Single nucleotide variant (synonymous variant) | Peroxisome biogenesis disorder 2B | |
| | | Single nucleotide variant (missense variant) | Peroxisome biogenesis disorder 2B | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (nonsense) | Peroxisome biogenesis disorder 2B | |
| | | Single nucleotide variant (missense variant) | Peroxisome biogenesis disorder 2B | |
| | | Duplication (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Peroxisome biogenesis disorder 2B | |
| | | Single nucleotide variant (missense variant) | Peroxisome biogenesis disorder 2B +1 more | |
| | | Single nucleotide variant (missense variant) | Peroxisome biogenesis disorder 2B | |
| | | Single nucleotide variant (missense variant) | Peroxisome biogenesis disorder 2B | |
| | | Single nucleotide variant (missense variant) | Peroxisome biogenesis disorder 2B | |
| | | Single nucleotide variant (missense variant) | Peroxisome biogenesis disorder 2B | |