| | | Inversion | Bilateral polymicrogyria | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant | Porphyria cutanea tarda | |
| | | Single nucleotide variant | Porphyria cutanea tarda | |
| | | Duplication | Porphyria cutanea tarda | |
| | | Single nucleotide variant | Porphyria cutanea tarda | |
| | | Single nucleotide variant | Porphyria cutanea tarda | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Familial porphyria cutanea tarda | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Deletion (non-coding transcript variant +1 more) | Porphyria cutanea tarda | |
| | | Single nucleotide variant (splice donor variant) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Familial porphyria cutanea tarda | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | UROD-related condition | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Familial porphyria cutanea tarda | |
| | | Single nucleotide variant (missense variant +1 more) | Familial porphyria cutanea tarda +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Familial porphyria cutanea tarda +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Deletion (frameshift variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (nonsense +1 more) | Familial porphyria cutanea tarda | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Deletion (splice donor variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (splice acceptor variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Familial porphyria cutanea tarda +1 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | UROD-related condition | |
| | | Single nucleotide variant (missense variant +1 more) | Familial porphyria cutanea tarda +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (nonsense +1 more) | not provided | GPathogenic/Likely pathogenic |
| | | Duplication (nonsense +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | Familial porphyria cutanea tarda | |
| | | Microsatellite (inframe_deletion +1 more) | not specified +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Microsatellite (inframe_deletion +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | UROD-related condition | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (nonsense +1 more) | Porphyria cutanea tarda | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Insertion (nonsense +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Indel (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (nonsense +1 more) | not provided | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | not specified +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | UROD-related condition | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Familial porphyria cutanea tarda | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Familial porphyria cutanea tarda +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Familial porphyria cutanea tarda | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Familial porphyria cutanea tarda | |
| | | Single nucleotide variant (missense variant +1 more) | UROD-Related Disorders +1 more | |
| | | Deletion (frameshift variant +1 more) | Familial porphyria cutanea tarda | |
| | | Single nucleotide variant (missense variant +1 more) | Familial porphyria cutanea tarda | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (nonsense +1 more) | Familial porphyria cutanea tarda +1 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant +1 more) | not provided | |
| | | Single nucleotide variant (splice donor variant) | not provided | |
| | | Microsatellite (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | UROD-related condition | |
| | | Single nucleotide variant (missense variant +1 more) | Familial porphyria cutanea tarda | |
| | | Single nucleotide variant (synonymous variant +1 more) | Familial porphyria cutanea tarda | |
| | | Single nucleotide variant (missense variant +1 more) | not specified +1 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant +1 more) | Familial porphyria cutanea tarda | |
| | | Single nucleotide variant (synonymous variant +1 more) | Familial porphyria cutanea tarda +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |