| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (splice donor variant) | TARP syndrome | |
| | | Single nucleotide variant (synonymous variant) | TARP syndrome | |
| | | Single nucleotide variant (splice donor variant) | TARP syndrome | |
| | | Copy number loss | TARP syndrome | |
| | | Copy number gain | not provided | |
Click to view in NCBI Gene