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See Report
Preferred Variant Title
Classification
Condition
Published Date
Version
Criteria Specification
Gene
View NM_001204.7(BMPR2):c.1126G>T (p.Glu376Ter)
Pathogenic
pulmonary arterial hypertension2024-09-20
1.0
ClinGen Pulmonary Hypertension Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for BMPR2 Version 1.1.0BMPR2
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