| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC101927919, LOC126859772
+5 more | Deletion | Intellectual disability +2 more | |
| | LOC101927919, LOC129389624
+3 more | Deletion | Intellectual disability +2 more | |
| | | Deletion | Tremor +3 more | |
| | | Copy number loss | Mild obesity +3 more | |
| | | Single nucleotide variant (missense variant +2 more) | Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome +6 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene