| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant +1 more) | Ataxia-telangiectasia syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Varicose disease +9 more | |
| | | Translocation | Global developmental delay +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Li-Fraumeni syndrome | |
| | | Microsatellite (inframe_deletion +1 more) | Familial adenomatous polyposis 2 +3 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene