| Diagnosis | Omim Number | Sample Count |
| BANNAYAN-RILEY-RUVALCABA SYNDROME; BRRS | 158350 | 1 |
| BARDET-BIEDL SYNDROME, BBS | 209900 | 14 |
| BARTH SYNDROME; BTHS | 302060 | 15 |
| BASAL CELL NEVUS SYNDROME; BCNS | 109400 | 19 |
| BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1; IBGC1 | 213600 | 2 |
| BECKWITH-WIEDEMANN SYNDROME; BWS | 130650 | 6 |
| BEHCET SYNDROME | 109650 | 1 |
| BETA GLOBIN REGION RESTRICTION POLYMORPHISMS | | 5 |
| BETA-THALASSEMIA | | 18 |
| BIOTINIDASE; BTD MULTIPLE CARBOXYLASE DEFICIENCY, LATE-ONSET, INCLUDED | 253260 | 1 |
| BLAU SYNDROME; BLAUS | 186580 | 2 |
| BLOOM SYNDROME; BLM | 210900 | 25 |
| BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20; BMIQ20 | | 1 |
| BOVINE PORPHYRIA, CONGENITAL ERYTHROPOIETIC | 263700 | 2 |
| BOVINE PROTOPORPHYRIA | 177000 | 3 |
| BREAST CANCER 2, EARLY-ONSET; BRCA2 | 600185 | 1 |
| BREAST CANCER, SPORADIC | | 1 |
| BREAST CANCER, TYPE 1; BRCA1 | 113705 | 26 |
| BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2; BROVCA2 | | 7 |
| BROWN-VIALETTO-VAN LAERE SYNDROME 1; BVVLS1 | 211530 | 1 |
| BRUTON AGAMMAGLOBULINEMIA TYROSINE KINASE; BTK | 300300 | 2 |
| BURKITT LYMPHOMA; BL | 113970 | 7 |