| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Syndactyly ( GJA1) | Nonsyndromic digit anomaly | Autosomal Dominant | 6q22.31 | Substitution | GJA1 | Thr89Ile | Missense | M Bilal et al., 2023/2023 |
