| | AMOTL2, DNAJC13 +1343 more | Copy number gain | See cases | |
| | | Copy number loss | Chromosome 3q13.31 deletion syndrome | |
| | | Copy number gain | See cases | |
| | LOC129937351, LOC129937424 +570 more | Copy number loss | See cases | |
| | GOLGB1, LOC129389118 +326 more | Copy number loss | See cases | |
| | LOC126806792, LOC126806793 +291 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | ALDH1L1-AS1, ALDH1L1-AS2 +214 more | Copy number loss | See cases | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant | not provided +1 more | |
| | | Single nucleotide variant | not provided +1 more | |
| | | Single nucleotide variant | not provided +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Orotic aciduria | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary orotic aciduria, type 1 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Orotic aciduria +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Hereditary orotic aciduria, type 1 +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Hereditary orotic aciduria, type 1 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Hereditary orotic aciduria, type 1 | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Hereditary orotic aciduria, type 1 | |
| | | Single nucleotide variant (missense variant +1 more) | not specified +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | Orotic aciduria | |
| | | Single nucleotide variant (synonymous variant +1 more) | Hereditary orotic aciduria, type 1 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Hereditary orotic aciduria, type 1 | |
| | | Single nucleotide variant (intron variant) | Hereditary orotic aciduria, type 1 | |
| | | Single nucleotide variant (synonymous variant +1 more) | UMPS-related condition | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Hereditary orotic aciduria, type 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary orotic aciduria, type 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary orotic aciduria, type 1 | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Deletion (frameshift variant +1 more) | Hereditary orotic aciduria, type 1 | |
| | | Single nucleotide variant (intron variant) | Hereditary orotic aciduria, type 1 | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary orotic aciduria, type 1 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Orotic aciduria | |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary orotic aciduria, type 1 | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary orotic aciduria, type 1 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Hereditary orotic aciduria, type 1 | |
| | | Single nucleotide variant (nonsense +1 more) | Orotic aciduria | |
| | | Single nucleotide variant (synonymous variant +1 more) | Orotic aciduria | |
| | | Single nucleotide variant (missense variant +1 more) | Orotic aciduria | |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary orotic aciduria, type 1 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Hereditary orotic aciduria, type 1 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Hereditary orotic aciduria, type 1 +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | UMPS-related condition | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary orotic aciduria, type 1 | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | Hereditary orotic aciduria, type 1 | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary orotic aciduria, type 1 +2 more | |
| | | Single nucleotide variant (nonsense +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | Hereditary orotic aciduria, type 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | UMPS-related condition +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary orotic aciduria, type 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Hereditary orotic aciduria, type 1 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary orotic aciduria, type 1 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Orotic aciduria +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Hereditary orotic aciduria, type 1 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Orotic aciduria | |
| | | Single nucleotide variant (missense variant +1 more) | Orotic aciduria +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary orotic aciduria, type 1 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary orotic aciduria, type 1 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | Hereditary orotic aciduria, type 1 | |
| | | Duplication (frameshift variant +1 more) | not provided | |
| | | Microsatellite (frameshift variant +1 more) | Hereditary orotic aciduria, type 1 | |
| | | 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) | Hereditary orotic aciduria, type 1 | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Orotic aciduria +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (splice donor variant) | Hereditary orotic aciduria, type 1 | |
| | | Single nucleotide variant (splice donor variant) | Hereditary orotic aciduria, type 1 | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (splice acceptor variant) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | Hereditary orotic aciduria, type 1 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Hereditary orotic aciduria, type 1 +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Orotic aciduria +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Orotic aciduria | |
| | | Single nucleotide variant (missense variant +1 more) | Orotic aciduria +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Orotic aciduria +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Orotic aciduria | |
| | | Single nucleotide variant (missense variant +1 more) | Orotic aciduria | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary orotic aciduria, type 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary orotic aciduria, type 1 +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Orotic aciduria | |
| | | Single nucleotide variant (intron variant) | Orotic aciduria | |
| | | Single nucleotide variant (intron variant) | Hereditary orotic aciduria, type 1 | |