| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome | |
| | | Single nucleotide variant (missense variant) | Myhre syndrome +7 more | |
| | | Single nucleotide variant (missense variant) | Juvenile polyposis syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Myhre syndrome +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Juvenile polyposis syndrome +8 more | |
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