| | | Copy number gain | See cases | |
| | LOC112935964, LOC112935965 +171 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | CCDC54-AS1, LOC123002328 +682 more | Copy number loss | Chromosome 3q13.31 deletion syndrome | |
| | | Copy number loss | See cases | |
| | CPOX, LOC129937121 +1 more | Copy number gain | See cases | |
| | | Single nucleotide variant (3 prime UTR variant) | Hereditary coproporphyria | |
| | | Single nucleotide variant (3 prime UTR variant) | Hereditary coproporphyria | |
| | | Single nucleotide variant (3 prime UTR variant) | Hereditary coproporphyria | |
| | | Single nucleotide variant (3 prime UTR variant) | Hereditary coproporphyria | |
| | | Single nucleotide variant (3 prime UTR variant) | Hereditary coproporphyria | |
| | | Single nucleotide variant (3 prime UTR variant) | Hereditary coproporphyria | |
| | | Single nucleotide variant (3 prime UTR variant) | Hereditary coproporphyria | |
| | | Single nucleotide variant (3 prime UTR variant) | Hereditary coproporphyria | |
| | | Single nucleotide variant (3 prime UTR variant) | Hereditary coproporphyria | |
| | | Single nucleotide variant (3 prime UTR variant) | Hereditary coproporphyria | |
| | | Single nucleotide variant (3 prime UTR variant) | Hereditary coproporphyria | |
| | | Single nucleotide variant (3 prime UTR variant) | Hereditary coproporphyria | |
| | | Single nucleotide variant (3 prime UTR variant) | Hereditary coproporphyria | |
| | | Insertion (3 prime UTR variant) | Hereditary coproporphyria | |
| | | Single nucleotide variant (3 prime UTR variant) | Hereditary coproporphyria | |
| | | Single nucleotide variant (3 prime UTR variant) | Hereditary coproporphyria | |
| | | Insertion (3 prime UTR variant) | Hereditary coproporphyria | |
| | | Single nucleotide variant (3 prime UTR variant) | Hereditary coproporphyria | |
| | | Single nucleotide variant (3 prime UTR variant) | Hereditary coproporphyria | |
| | | Single nucleotide variant (3 prime UTR variant) | Hereditary coproporphyria | |
| | | Single nucleotide variant (3 prime UTR variant) | Hereditary coproporphyria | |
| | | Single nucleotide variant (3 prime UTR variant) | Hereditary coproporphyria | |
| | | Single nucleotide variant (3 prime UTR variant) | Hereditary coproporphyria | |
| | | Single nucleotide variant (3 prime UTR variant) | Hereditary coproporphyria | |
| | | Single nucleotide variant (3 prime UTR variant) | Hereditary coproporphyria | |
| | | Single nucleotide variant (3 prime UTR variant) | Hereditary coproporphyria | |
| | | Single nucleotide variant (3 prime UTR variant) | Hereditary coproporphyria +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Hereditary coproporphyria | |
| | | Single nucleotide variant (3 prime UTR variant) | Hereditary coproporphyria | |
| | | Single nucleotide variant (3 prime UTR variant) | Hereditary coproporphyria | |
| | | Single nucleotide variant (3 prime UTR variant) | Hereditary coproporphyria | |
| | | Deletion (3 prime UTR variant) | Hereditary coproporphyria | |
| | | Single nucleotide variant (missense variant) | CPOX-related disorder | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Hereditary coproporphyria +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | CPOX-related disorder | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (splice donor variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Coproporphyria | |
| | | Duplication (frameshift variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Hereditary coproporphyria +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Hereditary coproporphyria | |
| | | Single nucleotide variant (missense variant) | Harderoporphyria +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Hereditary coproporphyria | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | Hereditary coproporphyria | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | CPOX-related disorder +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | CPOX-related disorder +2 more | |
| | | Single nucleotide variant (missense variant) | Hereditary coproporphyria +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Hereditary coproporphyria | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Hereditary coproporphyria | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Hereditary coproporphyria | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Coproporphyria | |
| | | Single nucleotide variant (missense variant) | Harderoporphyria | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (splice donor variant) | not provided | |
| | | Single nucleotide variant (nonsense) | Hereditary coproporphyria | |
| | | Duplication (frameshift variant) | not provided | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |