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 |
|---|---|---|---|---|---|
| 428 | 0 | 18 | 0 | 1 | 447 |
Gene and significance breakdown #
Total genes and gene combinations: 14
| Gene or gene combination | pathogenic | uncertain significance | benign | total |
|---|---|---|---|---|
| BMPR2 | 347 | 15 | 0 | 362 |
| ACVRL1 | 38 | 0 | 0 | 38 |
| EIF2AK4 | 19 | 0 | 0 | 19 |
| BMPR2, LOC129935435 | 6 | 0 | 0 | 6 |
| ENG | 5 | 0 | 0 | 5 |
| ENG, LOC102723566 | 4 | 0 | 0 | 4 |
| BMPR2, LOC129935435, LOC129935436 | 3 | 0 | 0 | 3 |
| BMPR2, LOC129935436 | 3 | 0 | 0 | 3 |
| SMAD4 | 0 | 2 | 0 | 2 |
| BMPR2, LOC129388983, LOC129935429, LOC129935430, LOC129935431, LOC129935432, LOC129935433, LOC129935434, LOC129935435, NOP58, SNORD11, SNORD11B, SNORD70, SNORD70B | 1 | 0 | 0 | 1 |
| BMPR2, LOC129935434 | 0 | 0 | 1 | 1 |
| CAV1 | 1 | 0 | 0 | 1 |
| KCNK3 | 1 | 0 | 0 | 1 |
| SMAD1 | 0 | 1 | 0 | 1 |
Condition and significance breakdown #
Total conditions: 9
| Condition | pathogenic | uncertain significance | benign | total |
|---|---|---|---|---|
| Pulmonary hypertension, primary, 1 | 368 | 18 | 0 | 386 |
| Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia | 30 | 0 | 0 | 30 |
| Familial pulmonary capillary hemangiomatosis | 19 | 0 | 0 | 19 |
| Pulmonary arterial hypertension associated with congenital heart disease | 6 | 0 | 0 | 6 |
| Pulmonary hypertension, primary, dexfenfluramine-associated | 3 | 0 | 0 | 3 |
| Primary pulmonary hypertension | 0 | 0 | 1 | 1 |
| Pulmonary hypertension, primary, 3 | 1 | 0 | 0 | 1 |
| Pulmonary hypertension, primary, 4 | 1 | 0 | 0 | 1 |
| Pulmonary venoocclusive disease 1 | 1 | 0 | 0 | 1 |