| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (intron variant) | Intellectual developmental disorder with speech delay, autism, and dysmorphic facies | |
| | | Single nucleotide variant (missense variant) | Intellectual developmental disorder with speech delay, autism, and dysmorphic facies | |
| | | Single nucleotide variant (missense variant) | Intellectual developmental disorder with speech delay, autism, and dysmorphic facies | |
| | | Single nucleotide variant (missense variant) | Intellectual developmental disorder with speech delay, autism, and dysmorphic facies | |
| | | Single nucleotide variant (synonymous variant) | Intellectual developmental disorder with speech delay, autism, and dysmorphic facies +2 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene