| Gene |
Chromosome |
Location |
Syndrome |
Category |
| B3GALNT2 | 1 | q42.3 | Walker-Warburg syndrome | Microphthalmia | |
| B3GLCT | 13 | q12.3 | Peters plus syndrome | Cleft lip / cleft palate | |
| B4GAT1 | 11 | q13.2 | Walker-Warburg syndrome | Microphthalmia | |
| BAG3 | 10 | q26.11 | Myofibrillar myopathy | Muscular dystrophies | |
| BAZ1B | 7 | q11.23 | WILLIAMS-BEUREN REGION DUPLICATION SYNDROME | Autism spectrum | |
| BAZ2B | 2 | q24.2 | Narcissistic Personality Disorder | Pervasive Developmental Delay | |
| BBSOAS | 5 | q15 | BOSCH-BOONSTRA-SCHAAF OPTIC ATROPHY SYNDROME | Autism spectrum | |
| BC042823 | 4 | p16.3 | Autism 18 (AUTS18) | Autism spectrum | |
| BC080605 | 9 | q13 | Autism 18 (AUTS18) | Autism spectrum | |
| BCKDK | 16 | p11.2 | Branched-chain ketoacid dehydrogenase kinase deficiency | Autism spectrum | |
| BCKDKD | 16 | p11.2 | BRANCHED-CHAIN KETO ACID DEHYDROGENASE KINASE DEFICIENCY | Autism spectrum | |
| BCL11A | 2 | p16.1 | Intellectual developmental disorder with persistence of fetal hemoglobin | Autism spectrum | |
| BCOR | 23 | p11.4 | Oculofaciocardiodental (OFCD) syndrome | Cataracts | |
| BCR | 22 | q11.23 | Acute lymphoblastic leukemia | Leukemia | |
| BDNF | 11 | p13 | WAGR Syndrome | Autism spectrum | |
| BEAN1 | 16 | q21 | Spinocerebellar ataxia type 31 | Ataxia spectrum | |
| BEST1 | 11 | q12.3 | Autosomal dominant vitreoretinochoroidopathy (ADVIRC) | Cataracts | |
| BFSP1 | 20 | p12.1 | Cataract 33 multiple types (CTRCT33) | Cataracts | |
| BFSP2 | 3 | q22.1 | Juvenile-onset progressive cataracts | Cataracts | |
| BFSP2 | 3 | q22.1 | Cataract 12 multiple types (CTRCT12) | Autism spectrum | |
| BHLHE41 | 12 | p12.1 | Seasonal affective disorder | Sleep disorders | |
| BLK | 8 | p23.1 | Rheumatoid arthritis | Arthritis | |
| BLOC1S3 | 19 | q13.32 | Hermansky-Pudlak syndrome | Irritable Bowel Disorders | |
| BLOC1S6 | 15 | q21.1 | Hermansky-Pudlak syndrome | Irritable Bowel Disorders | |
| BMP4 | 14 | q22.2 | Microphthalmia syndromic 6 (MCOPS6) | Microphthalmia | |
| BPNT1 | 1 | q41-a42 | Fryn`s Syndrome - 1Q41-Q42 microdeletion | Autism spectrum | |
| BRAF | 7 | q34 | Noonan syndrome | Autism spectrum | |
| BRAF | 7 | q34 | Langerhans cell histiocytosis | Diabetes | |
| BRAF | 7 | q34 | Cardiofaciocutaneous syndrome | Autism spectrum | |
| BRAT1 | 7 | p22.3 | Rigidity and multifocal seizure syndrome lethal neonatal (RMFSL) | Microcephaly | |
| BRCA2 | 13 | q13.1 | Microcephaly - other | Microcephaly | |
| BRIP1 | 17 | q23.2 | Microcephaly - other | Microcephaly | |
| BRNRS | 23 | p11.3 | BRUNNER SYNDROME | Autism spectrum | |
| BRPS | 18 | q12.1 | Bainbridge-Ropers syndrome | Autism spectrum | |
| BTBD9 | 6 | p21.2 | Restless legs syndrome | Sleep disorders | |
| BTD | 3 | p25.1 | Biotinidase deficiency | Alopecia | |
| BTDD | 5 | q14.2 | BRACHYCEPHALY TRICHOMEGALY AND DEVELOPMENTAL DELAY | Autism spectrum | |
| BTNL2 | 6 | p21.32 | Ulcerative colitis | Irritable Bowel Disorders | |
| BTNL2 | 6 | p21.32 | Type 1 Diabetes | Diabetes | |