| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Ischemic stroke +6 more | |
| | | Single nucleotide variant (missense variant +1 more) | Autism, susceptibility to, X-linked 3 +15 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene