| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC130003513, OTUD1 (A27P) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC130003513, OTUD1 (A29S) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC130003513, OTUD1 (E47A) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | OTUD1, LOC130003513 (A58T) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC130003513, OTUD1 (V67A) | Single nucleotide variant (missense variant) | OTUD1-related condition +1 more | GConflicting classifications of pathogenicity |
| | LOC130003513, OTUD1 (C78S) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC130003513, OTUD1 (P102A) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
Click to view in NCBI Gene