| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | DHODH, LOC126862390 (P328L) | Single nucleotide variant (missense variant) | DHODH-related disorder +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Miller syndrome +2 more | GConflicting classifications of pathogenicity |
| | DHODH, LOC126862390 (A341T) | Single nucleotide variant (missense variant) | DHODH-related disorder | |
| | DHODH, LOC126862390 (A341V) | Single nucleotide variant (missense variant) | not provided +2 more | |
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