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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
  1. 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