| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense +2 more) | Short stature-brachydactyly-obesity-global developmental delay syndrome | |
| | | Single nucleotide variant (splice acceptor variant) | Short stature-brachydactyly-obesity-global developmental delay syndrome +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | PRMT7-related disorder +2 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene