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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
BMPR2
Single nucleotide variant
(5 prime UTR variant)
Pulmonary arterial hypertension
GLikely benign
BMPR2
(L206*)
Single nucleotide variant
(nonsense)
Pulmonary arterial hypertension
GLikely pathogenic
BMPR2
(S779*)
Single nucleotide variant
(nonsense)
Pulmonary arterial hypertension
GLikely pathogenic
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