| Diagnosis | Omim Number | Sample Count |
| FABRY DISEASE | 301500 | 11 |
| FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1; FSHD1 | 158900 | 108 |
| FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY; TYPE UNKNOWN (FSHD) | 158900 | 1 |
| FACTOR V DEFICIENCY | 227400 | 2 |
| FACTOR VII DEFICIENCY | 227500 | 1 |
| FACTOR X DEFICIENCY | 227600 | 1 |
| FAMILIAL ADENOMATOUS POLYPOSIS 1; FAP1 | 175100 | 43 |
| FAMILIAL CANCER | | 4 |
| FAMILIAL MULTIPLE CONGENITAL ANOMALIES - UNKNOWN SYNDROME OR INHERITANCE | | 1 |
| FANCONI ANEMIA COMPLEMENTATION GROUP UNDETERMINED | | 7 |
| FANCONI ANEMIA, COMPLEMENTATION GROUP A; FANCA | 607139 | 12 |
| FANCONI ANEMIA, COMPLEMENTATION GROUP B | | 1 |
| FANCONI ANEMIA, COMPLEMENTATION GROUP C; FANCC | 227645 | 10 |
| FANCONI ANEMIA, COMPLEMENTATION GROUP D1; FANCD1 | 605724 | 1 |
| FANCONI ANEMIA, COMPLEMENTATION GROUP D2; FANCD2 | 227646 | 3 |
| FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF | 603467 | 1 |
| FANCONI ANEMIA, COMPLEMENTATION GROUP G; FANCG | | 2 |
| FARBER LIPOGRANULOMATOSIS | 228000 | 13 |
| FELINE EHLERS-DANLOS SYNDROME: TYPE UNCLASSIFIED | | 1 |
| FEMORAL DUPLICATION | | 1 |
| FERGUSON-BONNI NEURODEVELOPMENTAL SYNDROME; FERBON | | 1 |
| FETAL AKINESIA DEFORMATION SEQUENCE; FADS | 208150 | 1 |
| FIBRODYSPLASIA OSSIFICANS PROGRESSIVA; FOP | 135100 | 3 |
| FIBROMUSCULAR DYSPLASIA OF ARTERIES | 135580 | 29 |
| FRAGILE SITE 10Q25 | 136620 | 2 |
| FRAGILE SITE 2Q13 | | 1 |
| FRAGILE X MENTAL RETARDATION SYNDROME | 300624 | 88 |
| FRASER SYNDROME | 219000 | 3 |
| FRIEDREICH ATAXIA 1; FRDA | 229300 | 57 |
| FRONTONASAL DYSPLASIA | 136760 | 1 |
| FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY | 229700 | 2 |
| FRYNS SYNDROME; FRNS | 229850 | 3 |
| FUCOSIDOSIS | 230000 | 12 |
| FUCOSYLTRANSFERASE 1; FUT1 | 211100 | 1 |
| FUMARATE HYDRATASE; FH | 136850 | 1 |