| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Duplication | Autoimmune lymphoproliferative syndrome type 2B +1 more | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Copy number loss | not provided | |
| | | Copy number gain | Mosaic trisomy 2 | |
| | | Copy number loss | Chromosome 2q32-q33 deletion syndrome | |
| | | Copy number loss | not specified | |
| | | Copy number gain | not specified | |
| | | Deletion | Immunodeficiency, common variable, 1 +2 more | |
| | | Deletion | Primary pulmonary hypertension | |
| | | Copy number gain | See cases | |
| | | Copy number gain | not provided | |
| | | Deletion | Pulmonary arterial hypertension | |
| | | Deletion | Pulmonary arterial hypertension | |
| | | Deletion | Pulmonary arterial hypertension | |
| | | Deletion | Pulmonary arterial hypertension | |
| | | Duplication | Neurodevelopmental disorder | |
| | | Copy number loss | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129935430, BMPR2 +12 more | Deletion | Pulmonary hypertension, primary, 1 | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | FAM117B, FAM237A +509 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC129935413, LOC129935414 +1097 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC126806461, LOC126806467 +1299 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |