| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant) | Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency | |
| | | Single nucleotide variant (nonsense) | Inborn genetic diseases +2 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene