| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Congenital insensitivity to pain (SCN9A) | Insensitivity to modalities of pain | Autosomal Recessive | 2q24.3 | Nonsense | SCN9A | 1567C>T | Arg523* | 0/Kurban et al., 2010 | |
| Congenital insensitivity to pain (SCN9A) | Insensitivity to modalities of pain | Autosomal Recessive | 2q24.3 | Nonsense | SCN9A | 2691G>A | Trp897* | Premature Termination | 0/Cox et al., 2006 |
| Congenital insensitivity to pain (SCN9A) | Insensitivity to modalities of pain | Autosomal Recessive | 2q24.3 | Deletion | SCN9A | 2298delT | Ile767* | Frame shift mutation & PTC | 0/Cox et al., 2006 |
| Congenital insensitivity to pain (SCN9A) | Insensitivity to modalities of pain | Autosomal Recessive | 2q24.3 | Nonsense | SCN9A | 1376C>G | Ser459* | Premature Termination | 0/Cox et al., 2006 |
