| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Pulmonary hypertension, primary, 1 | |
| | | Single nucleotide variant (missense variant) | Abnormal basal ganglia morphology +11 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (nonsense) | Pulmonary hypertension, primary, 1 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Phenylketonuria | |
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