| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided | GPathogenic/Likely pathogenic |
| | | Deletion | Proximal 16p11.2 microdeletion syndrome | |
Click to view in NCBI Gene