| Gene | Gene Omim Number | Disease Omim Number | Chromosome Location | Gene Mutation | Allelic Variant | Omim Phenotype | Sample Count |
| ASAH | 613468 | 228000 | 8p22 | 412G>T | | FARBER LIPOGRANULOMATOSIS | 1 |
| ASAH | 613468 | 228000 | 8p22 | ASN320ASP | 0004 | FARBER LIPOGRANULOMATOSIS | 1 |
| ASAH | 613468 | 228000 | 8p22 | ASP331ASN | | FARBER LIPOGRANULOMATOSIS | 1 |
| ASAH | 613468 | 228000 | 8p22 | GLU138VAL | 0002 | FARBER LIPOGRANULOMATOSIS | 1 |
| ASAH | 613468 | 228000 | 8p22 | IVS13+1G>T | | FARBER LIPOGRANULOMATOSIS | 1 |
| ASAH | 613468 | 228000 | 8p22 | THR222LYS | 0001 | FARBER LIPOGRANULOMATOSIS | 1 |
| ASAH | 613468 | 228000 | 8p22 | TYR36CYS | 0003 | FARBER LIPOGRANULOMATOSIS | 2 |