Fig. 3

Reassessment of pathogenicity of variants in the BMPR2 gene. The distribution of 665 unique variants in the BMPR2 gene with pathogenicity assessment presented by authors in the literature before and after our reassessment according to the ACMG criteria. Some variants had mixed classifications before re-evaluation, either because they were identified in multiple studies with different assessments or because authors within an individual study were unable to classify the variant conclusively. Some variants reported in the literature do not have a definitive pathogenicity classification and are thus labeled as “Unclassified.”