If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.
| pathogenic | likely pathogenic | uncertain significance | likely benign | benign | drug response | total |
|---|---|---|---|---|---|---|
| 6 | 3 | 0 | 0 | 0 | 1 | 9 |
Gene and significance breakdown #
Total genes and gene combinations: 5
| Gene or gene combination | pathogenic | likely pathogenic | drug response | total |
|---|---|---|---|---|
| C19orf12 | 3 | 0 | 0 | 3 |
| MEN1 | 1 | 2 | 0 | 3 |
| AIP | 1 | 0 | 1 | 1 |
| GALC | 0 | 1 | 0 | 1 |
| WDR45 | 1 | 0 | 0 | 1 |
Condition and significance breakdown #
Total conditions: 5
| Condition | pathogenic | likely pathogenic | drug response | total |
|---|---|---|---|---|
| Somatotroph adenoma | 2 | 2 | 0 | 4 |
| Neurodegeneration with brain iron accumulation 4 | 3 | 0 | 0 | 3 |
| Dopamine agonists response | 0 | 0 | 1 | 1 |
| Galactosylceramide beta-galactosidase deficiency | 0 | 1 | 0 | 1 |
| Neurodegeneration with brain iron accumulation 5 | 1 | 0 | 0 | 1 |