| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Pulmonary arterial hypertension | |
| | | Duplication (frameshift variant +1 more) | Pulmonary hypertension, primary, autosomal recessive +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Pulmonary hypertension, primary, autosomal recessive +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Hyperinsulinemic hypoglycemia, familial, 1 +3 more | |
| | | Single nucleotide variant (missense variant) | Diffuse interstitial pulmonary fibrosis +8 more | GConflicting classifications of pathogenicity |
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