| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (splice donor variant) | Hereditary cancer-predisposing syndrome +1 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Hereditary cancer-predisposing syndrome | |
| | | Single nucleotide variant (nonsense +1 more) | Pheochromocytoma | |
| | LOC129934333, TMEM127 (M1T) | Single nucleotide variant (missense variant +2 more) | Hereditary cancer-predisposing syndrome | |
Click to view in NCBI Gene