| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (splice acceptor variant) | Central hypotonia +8 more | |
| | | Deletion (inframe_deletion) | Global developmental delay +10 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene