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See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
|---|---|---|---|---|---|---|---|
| View | NM_001204.7(BMPR2):c.125A>G (p.Gln42Arg) | Uncertain Significance | pulmonary arterial hypertension | 2025-01-22 | 1.0 | ClinGen Pulmonary Hypertension Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for BMPR2 Version 1.1.0 | BMPR2 |
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