| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Marfanoid habitus and intellectual disability | |
| | ATP1A1, ATP1A1-AS1 (T674S +1 more) | Single nucleotide variant (missense variant) | Marfanoid habitus and intellectual disability | |
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