| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency +1 more | |
| | | Single nucleotide variant (missense variant) | Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Deletion (frameshift variant) | not provided +2 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene