| | | Single nucleotide variant (synonymous variant) | HCFC1-related disorder +1 more | |
| | | Single nucleotide variant (synonymous variant) | not specified +2 more | |
| | | Single nucleotide variant (missense variant) | HCFC1-related disorder +2 more | |
| | | Single nucleotide variant (missense variant) | HCFC1-related disorder +3 more | |
| | | Single nucleotide variant (missense variant) | HCFC1-related disorder +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | HCFC1-related disorder +2 more | |
| | | Single nucleotide variant (synonymous variant) | not specified +2 more | |
| | 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 | |
| | | Single nucleotide variant (synonymous variant) | HCFC1-related disorder +1 more | |
| | | Single nucleotide variant (synonymous variant) | HCFC1-related disorder +1 more | |
| | | Single nucleotide variant (missense variant) | HCFC1-related disorder +3 more | |
| | | Single nucleotide variant (synonymous variant) | Methylmalonic acidemia with homocystinuria, type cblX +1 more | |
| | | Single nucleotide variant (synonymous variant) | Methylmalonic acidemia with homocystinuria, type cblX +1 more | |
| | | Single nucleotide variant (synonymous variant) | Methylmalonic acidemia with homocystinuria, type cblX +1 more | |
| | | Single nucleotide variant (synonymous variant) | HCFC1-related disorder +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | HCFC1-related disorder +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not specified +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | HCFC1-related disorder +1 more | |
| | | Single nucleotide variant (missense variant) | HCFC1-related disorder +3 more | |
| | | Single nucleotide variant (synonymous variant) | HCFC1-related disorder +2 more | |
| | | Single nucleotide variant (missense variant) | HCFC1-related disorder +2 more | |
| | | Single nucleotide variant (missense variant) | Methylmalonic acidemia with homocystinuria, type cblX +3 more | |
| | | Single nucleotide variant (synonymous variant) | HCFC1-related disorder +2 more | |
| | | Single nucleotide variant (synonymous variant) | HCFC1-related disorder +2 more | |
| | | Insertion (splice donor variant) | HCFC1-related disorder | |
| | | Single nucleotide variant (synonymous variant) | HCFC1-related disorder +3 more | |
| | | Single nucleotide variant (synonymous variant) | HCFC1-related disorder +1 more | |
| | | Single nucleotide variant (synonymous variant) | HCFC1-related disorder +2 more | |
| | | Single nucleotide variant (synonymous variant) | HCFC1-related disorder +2 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | |
| | | Single nucleotide variant (intron variant) | HCFC1-related disorder +1 more | |