| | | Microsatellite (frameshift variant +1 more) | Methylmalonic aciduria, cblB type | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Methylmalonic aciduria, cblB type +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice acceptor variant) | Methylmalonic aciduria, cblB type | |
| | | Deletion (intron variant) | Methylmalonic aciduria, cblB type | |
| | | Deletion (splice donor variant) | Methylmalonic aciduria, cblB type | |
| | | Duplication (frameshift variant +1 more) | Methylmalonic aciduria, cblB type | |
| | | Duplication (frameshift variant +1 more) | Methylmalonic aciduria, cblB type | |
| | | Duplication (inframe_insertion +1 more) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Methylmalonic aciduria, cblB type | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Methylmalonic aciduria, cblB type +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Methylmalonic aciduria, cblB type | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Methylmalonic acidemia +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not specified +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense +1 more) | Methylmalonic aciduria, cblB type +1 more | GPathogenic/Likely pathogenic |
| | | Deletion (inframe_deletion +1 more) | Methylmalonic aciduria, cblB type | |
| | | Single nucleotide variant (missense variant +1 more) | Methylmalonic aciduria, cblB type | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice acceptor variant) | Methylmalonic aciduria, cblB type | GPathogenic/Likely pathogenic |
| | | Deletion (splice acceptor variant) | Methylmalonic aciduria, cblB type | |
| | | Deletion (frameshift variant +1 more) | Methylmalonic aciduria, cblB type | |
| | | Microsatellite (inframe_deletion +1 more) | Methylmalonic aciduria, cblB type | |
| | | Single nucleotide variant (nonsense +1 more) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (genic upstream transcript variant) | Methylmalonic acidemia +1 more | |