Table 2.
Stratification of the combined variant dataset into manifestation categories
| CGD manifestation panel | Genes (n) | Variants (n) | Likely pathogenic/pathogenic variants (n) |
|---|---|---|---|
| Allergy/Immunology/Infectious | 253 | 1952 | 1324 |
| Audiologic/Otolaryngologic | 217 | 1215 | 668 |
| Biochemical | 354 | 2538 | 1933 |
| Cardiovascular | 446 | 4360 | 2408 |
| Craniofacial | 387 | 1861 | 1106 |
| Dental | 80 | 783 | 518 |
| Dermatologic | 345 | 2749 | 1662 |
| Endocrine | 240 | 1801 | 1340 |
| Gastrointestinal | 338 | 2351 | 1620 |
| Genitourinary | 149 | 1026 | 753 |
| Hematologic | 267 | 2571 | 1914 |
| Musculoskeletal | 676 | 4935 | 2864 |
| Neurologic | 1012 | 6363 | 4055 |
| Obstetric | 34 | 223 | 140 |
| Oncologic | 203 | 2157 | 1207 |
| Ophthalmologic | 479 | 3649 | 2406 |
| Pulmonary | 90 | 717 | 485 |
| Renal | 302 | 2143 | 1459 |
| NotInCGD | 5806 | 11,679 | 122 |
The categories are defined by Clinical Genomics Database and are associated to clinically relevant genes. Variants were allocated to the manifestation categories based on their gene and were placed in multiple categories if a gene was associated to multiple manifestations