| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Intellectual developmental disorder with poor growth and with or without seizures or ataxia +1 more | |
| | | Single nucleotide variant (missense variant) | Intellectual developmental disorder with poor growth and with or without seizures or ataxia +1 more | |
| | | Single nucleotide variant (missense variant) | Intellectual developmental disorder with poor growth and with or without seizures or ataxia | |
| | | Single nucleotide variant (missense variant) | Intellectual developmental disorder with poor growth and with or without seizures or ataxia | |
| | | Single nucleotide variant (nonsense) | Intellectual developmental disorder with poor growth and with or without seizures or ataxia | |
| | | Duplication (frameshift variant) | Intellectual developmental disorder with poor growth and with or without seizures or ataxia | |
| | | Single nucleotide variant (missense variant +1 more) | Intellectual developmental disorder with poor growth and with or without seizures or ataxia | |
Click to view in NCBI Gene