| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Rheumatoid Arthritis (TLR1) | Rheumatoid arthritis | Autosomal Recessive | 4p14 | Substitution | TLR1 | c.1324T>C | p.Cys442>Arg | Missense | Pasha et al, 2023/2023 |
| Rheumatoid Arthritis (TLR1) | Rheumatoid arthritis | Autosomal Recessive | 4p14 | Substitution | TLR1 | c.2036T>C | p.Ile679>Thr | Missense | Pasha et al, 2023/2023 |