| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +3 more | |
| | | Single nucleotide variant (splice donor variant) | SBDS-related condition +11 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | not provided +7 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases +3 more | |
Click to view in NCBI Gene