Table 1 Total classified variants in FAM111B gene (UniProt, ClinVar, VarSome & PubMed)
Coding impact | Pathogenic (%) | Likely pathogenic (%) | Uncertain significance (%) | Benign (%) | Total |
|---|---|---|---|---|---|
Missense | 60 | 13.3 | 6.7 | 20 | 15 |
Frameshift | 0 | 33.3 | 33.3 | 33.3 | 3 |
Inframe indel | 100 | 0 | 0 | 0 | 1 |
Total | 52.6 | 15.8 | 10.5 | 21.1 |