| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Microsatellite (inframe_deletion) | Inborn genetic diseases +3 more | |
| | | Deletion (frameshift variant) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Smith-Magenis syndrome +3 more | |
Click to view in NCBI Gene