| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | Abnormal blistering of the skin +3 more | |
| | | Single nucleotide variant (synonymous variant) | Coffin-Siris syndrome 1 +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Multiple endocrine neoplasia type 2B +17 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant | Mitochondrial disease +7 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene