| Gene |
Chromosome |
Location |
Syndrome |
| ABCD4 | 14 | q24.3 | methylmalonic acidemia with homocystinuria | |
| AMN | 14 | q32.32 | Imerslund-Grasbeck syndrome | |
| CD320 | 19 | p13.2 | Methylmalonic aciduria - transient - due to transcobalamin receptor defect | |
| CUBN | 10 | p13 | Imerslund-Grasbeck syndrome | |
| GIF | 11 | q12.1 | Hereditary intrinsic factor deficiency | |
| HCFC1 | 23 | q28 | methylmalonic acidemia with homocystinuria | |
| LMBRD1 | 6 | q13 | methylmalonic acidemia with homocystinuria | |
| MCEE | 2 | p13.3 | methylmalonic acidemia | |
| MMAA | 4 | q31.21 | methylmalonic acidemia | |
| MMAB | 12 | q24.11 | methylmalonic acidemia | |
| MMACHC | 1 | p34.1 | methylmalonic acidemia with homocystinuria | |
| MMADHC | 2 | q23.2 | methylmalonic acidemia with homocystinuria | |
| MTR | 1 | q43 | Homocystinuria | |
| MTRR | 5 | p15.31 | Homocystinuria | |
| MUT | 6 | p12.3 | methylmalonic acidemia | |
| NDUFB3 | 2 | q33.1 | Mitochondrial complex I deficiency | |
| TCN2 | 22 | q12.2 | Transcobalamin deficiency | |