| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (5 prime UTR variant) | Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant) | Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies | |
| | | Single nucleotide variant (splice acceptor variant) | Intellectual disability +2 more | |
| | | Single nucleotide variant (nonsense) | Dysmorphic features +5 more | |
| | | Deletion (frameshift variant) | Intellectual disability +2 more | |
| | | Single nucleotide variant (missense variant) | Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Intellectual disability +2 more | |
| | | Single nucleotide variant (nonsense) | not provided +1 more | |
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