| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not specified +1 more | |
| | | Single nucleotide variant (splice donor variant) | Dihydropyrimidine dehydrogenase deficiency | |
| | | Deletion (frameshift variant) | Dihydropyrimidine dehydrogenase deficiency +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Dihydropyrimidine dehydrogenase deficiency +1 more | |
| | | Single nucleotide variant (missense variant) | not specified +2 more | |
| | | Single nucleotide variant (nonsense) | Dihydropyrimidine dehydrogenase deficiency +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | not provided +2 more | |
| | | Single nucleotide variant (intron variant) | Dihydropyrimidine dehydrogenase deficiency +1 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Dihydropyrimidine dehydrogenase deficiency +2 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided +2 more | |
Click to view in NCBI Gene