| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Anhidrosis (eccrine sweating;InsP3R2) | anhidrosis & severe heat intolerance | Autosomal Recessive | 12p12.1?12p11.22 | Missense | ITPR2 | 7492G>A | Gly2498Ser | Amino Acid Substitution | 2014/Klar et al., 2014 |
| Anhidrosis (eccrine sweating;ITPR2) | anhidrosis & heat intolerant | Autosomal Recessive | 12p12.1-p11.2 | Missense | ITPR2 | 7492G>A | Gly2498Ser | Amino Acid Substitution | 2014/Klar et al., 2014 |
