| Disease associated variation - ClinVar |
| Allele ID | Type | Name | RS#dbSNP | Phenotype IDs | Chromosome | Start | Stop | Reference | Alternate |
| 153582 | single nucleotide variant | NM_012216.3(MID2):c.1040G>A (p.Arg347Gln) | 587777605 | MedGen:CN207618,OMIM:300928 | X | 107148823 | 107148823 | G | A |
| 153582 | single nucleotide variant | NM_012216.3(MID2):c.1040G>A (p.Arg347Gln) | 587777605 | MedGen:CN207618,OMIM:300928 | X | 107905593 | 107905593 | G | A |
| 225833 | single nucleotide variant | NM_012216.3(MID2):c.448G>T (p.Ala150Ser) | 375785745 | MedGen:CN207618,OMIM:300928 | X | 107841113 | 107841113 | G | T |
| 225833 | single nucleotide variant | NM_012216.3(MID2):c.448G>T (p.Ala150Ser) | 375785745 | MedGen:CN207618,OMIM:300928 | X | 107084343 | 107084343 | G | T |