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 | total |
|---|---|---|---|---|---|
| 13 | 4 | 4 | 0 | 0 | 21 |
Gene and significance breakdown #
Total genes and gene combinations: 19
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | total |
|---|---|---|---|---|
| CYP11B1, LOC106799833 | 1 | 1 | 0 | 2 |
| NPC1 | 2 | 0 | 0 | 2 |
| ACTA2 | 0 | 0 | 1 | 1 |
| APC | 1 | 0 | 0 | 1 |
| ASCC1 | 1 | 0 | 0 | 1 |
| CACNA1C | 0 | 0 | 1 | 1 |
| CAPN5 | 1 | 0 | 0 | 1 |
| COL1A1 | 1 | 0 | 0 | 1 |
| DMD | 1 | 0 | 0 | 1 |
| ELN | 1 | 0 | 0 | 1 |
| EP300 | 1 | 0 | 0 | 1 |
| FANCD2, LOC107303338 | 0 | 1 | 0 | 1 |
| GPHN | 0 | 0 | 1 | 1 |
| MTOR | 0 | 1 | 0 | 1 |
| PAX3 | 1 | 0 | 0 | 1 |
| PKHD1 | 0 | 1 | 0 | 1 |
| POLD1 | 0 | 0 | 1 | 1 |
| RELN | 1 | 0 | 0 | 1 |
| RPS6KA3 | 1 | 0 | 0 | 1 |
Condition and significance breakdown #
Total conditions: 19
| Condition | pathogenic | likely pathogenic | uncertain significance | total |
|---|---|---|---|---|
| Deficiency of steroid 11-beta-monooxygenase | 1 | 1 | 0 | 2 |
| Niemann-Pick disease, type C1 | 2 | 0 | 0 | 2 |
| Aortic aneurysm, familial thoracic 6 | 0 | 0 | 1 | 1 |
| Autosomal recessive polycystic kidney disease | 0 | 1 | 0 | 1 |
| Coffin-Lowry syndrome | 1 | 0 | 0 | 1 |
| Concentric hypertrophic cardiomyopathy | 0 | 0 | 1 | 1 |
| Duchenne muscular dystrophy | 1 | 0 | 0 | 1 |
| Familial adenomatous polyposis 1 | 1 | 0 | 0 | 1 |
| Fanconi anemia complementation group D2 | 0 | 1 | 0 | 1 |
| Macrocephaly | 0 | 1 | 0 | 1 |
| Mandibular hypoplasia-deafness-progeroid syndrome | 0 | 0 | 1 | 1 |
| Norman-Roberts syndrome | 1 | 0 | 0 | 1 |
| Osteogenesis imperfecta type I | 1 | 0 | 0 | 1 |
| Proliferative vitreoretinopathy | 1 | 0 | 0 | 1 |
| Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | 1 | 0 | 0 | 1 |
| Seizure | 0 | 0 | 1 | 1 |
| Spinal muscular atrophy with congenital bone fractures 2 | 1 | 0 | 0 | 1 |
| Supravalvar aortic stenosis | 1 | 0 | 0 | 1 |
| Waardenburg syndrome type 1 | 1 | 0 | 0 | 1 |