| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Indel (inframe_indel) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (nonsense) | Developmental and epileptic encephalopathy, 26 | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 26 | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 26 | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 26 | |
| | | Single nucleotide variant | not provided | |
| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Intellectual disability | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (nonsense) | Intellectual disability | |
| | | Single nucleotide variant (missense variant) | Intellectual disability | |
Click to view in NCBI Gene