| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder | |
| | | Deletion (frameshift variant) | Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder | |
| | | Single nucleotide variant (missense variant) | Marfanoid habitus and intellectual disability +4 more | GPathogenic/Likely pathogenic |
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