| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | HCFC1, LOC130068842 (P1492L) | Single nucleotide variant (missense variant) | Methylmalonic acidemia with homocystinuria, type cblX +1 more | |
| | HCFC1, LOC130068842 (T1481M) | Single nucleotide variant (missense variant) | HCFC1-related disorder +2 more | |
Click to view in NCBI Gene