| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | TRIM39, TRIM39-RPP21 (N269H) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | TRIM39, TRIM39-RPP21 (V384M +1 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | LOC126859643, TRIM39 +1 more (R284W) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | TRIM39-RPP21, TRIM39 (R447H +1 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | TRIM39-RPP21, TRIM39 (P271S) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | TRIM39, TRIM39-RPP21 (I481V +1 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Deletion | Megacolon | |
| | | Copy number gain | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129995913, LOC129995914 +1340 more | Copy number gain | See cases | |
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