| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +3 more | |
| | | Single nucleotide variant (missense variant) | not specified +3 more | |
| | | Single nucleotide variant (synonymous variant) | Smith-Magenis syndrome +3 more | |
| | | Single nucleotide variant (synonymous variant) | Smith-Magenis syndrome +3 more | |
Click to view in NCBI Gene