Table 1.
Individuals in whom more than one candidate gene was detected. Variant prioritization showed that in five unrelated families more than one candidate gene was identified.
| Patient ID | PAH Etiology | Variant 1 | ACMG Classification | Variant 2 | ACMG Classification |
|---|---|---|---|---|---|
| HTP070 | IPAH | BMPR2:NM_001204.6:c.77-5_77-2delTTTA | P | NOTCH3:NM_000435.2:c.181C>T:p.(Arg61Trp) | VUS |
| HTP081 | IPAH | BMPR2:Exon2 duplication | N/A | NOTCH3:NM_000435.2:c.1964A>G:p.(Asn655Ser) | VUS |
| HTP466 | IPAH | ABCC8:NM_000352.4:c.3976G>A:p.(Glu1326Lys) | LP | NOTCH3:NM_000435.2:c.6532C>T:p.(Pro2178Ser) | VUS |
| HTP474 | CHD | ABCC8:NM_000352.4(ABCC8):c.3394G>A:p.(Asp1132Asn) | VUS | SARS2:NM_017827.3:c.136G>A:p.(Glu46Lys) | VUS |
| HTP611 | CHD | TBX4:NM_018488.3:c.1018C>T:p.(Arg340 *) | P | SMAD1:NM_005900.2:c.738G>C:p.(Met246Ile) | VUS |
* Stop codon.