| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 6 | |
| | | Copy number loss | Chromosome 15q11.2 deletion syndrome | |
| | | Copy number loss | Chromosome 15q11.2 deletion syndrome | |
| | | Copy number gain | Chromosome 15q11.2 deletion syndrome | |
| | | Deletion | Intellectual disability | |
Click to view in NCBI Gene