1 => Disorder placed on map based on association with a gene; defect unknown
2 => Disorder placed by linkage; no mutation found
3 => Molecular basis known; mutation found in gene
4 => Contiguous gene deletion/duplication syndrome
| Gene Symbol | Chromosomal Location | Gene MIM number | Mapping Method | Phenotype | Phenotype MIM number | Phenotype Mapping Key |
| PTEN | 10q23.31 | 601728 | REc, REa, A, Ch | Cowden syndrome 1, 158350 (3) | 158350 | 3 |
| PTEN | 10q23.31 | 601728 | REc, REa, A, Ch | Lhermitte-Duclos syndrome, 158350 (3) | 158350 | 3 |
| PTEN | 10q23.31 | 601728 | REc, REa, A, Ch | Bannayan-Riley-Ruvalcaba syndrome, 153480 (3) | 153480 | 3 |
| PTEN | 10q23.31 | 601728 | REc, REa, A, Ch | {Meningioma}, 607174 (3) | 607174 | 3 |
| PTEN | 10q23.31 | 601728 | REc, REa, A, Ch | {Glioma susceptibility 2}, 613028 (3) | 613028 | 3 |
| PTEN | 10q23.31 | 601728 | REc, REa, A, Ch | Macrocephaly/autism syndrome, 605309 (3) | 605309 | 3 |
| PTEN | 10q23.31 | 601728 | REc, REa, A, Ch | PTEN hamartoma tumor syndrome (3) | NA | NA |
| PTEN | 10q23.31 | 601728 | REc, REa, A, Ch | VATER association with macrocephaly and ventriculomegaly, 276950 (3) | 276950 | 3 |
| PTEN | 10q23.31 | 601728 | REc, REa, A, Ch | {Prostate cancer, somatic}, 176807 (3) | 176807 | 3 |