| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (splice acceptor variant +1 more) | Hepatomegaly +16 more | |
| | | Single nucleotide variant (missense variant) | Pulmonary arterial hypertension | |
| | | Single nucleotide variant (missense variant) | not specified +5 more | |
| | | Single nucleotide variant (missense variant) | Macrocephaly +7 more | |
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