| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +4 more) | Temtamy syndrome +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Temtamy syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Temtamy syndrome | |
Click to view in NCBI Gene