Table 2 Stratification of the combined variant dataset into manifestation categories
From: GAVIN: Gene-Aware Variant INterpretation for medical sequencing
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 |