| | | Deletion | Porokeratosis 3, disseminated superficial actinic type +2 more | |
| | | Single nucleotide variant (intron variant) | Methylmalonic aciduria, cblB type | |
| | | Indel (nonsense +1 more) | Methylmalonic aciduria, cblB type | |
| | | Deletion (intron variant) | Methylmalonic aciduria, cblB type | |
| | | Single nucleotide variant (synonymous variant +1 more) | Methylmalonic aciduria, cblB type | |
| | | Single nucleotide variant (synonymous variant +1 more) | Methylmalonic aciduria, cblB type | |
| | | Single nucleotide variant (intron variant) | Methylmalonic aciduria, cblB type | |
| | | Single nucleotide variant (intron variant) | Methylmalonic aciduria, cblB type | |
| | | Single nucleotide variant (synonymous variant +1 more) | Methylmalonic aciduria, cblB type | |
| | | Single nucleotide variant (missense variant +2 more) | Methylmalonic aciduria, cblB type | |
| | | Deletion (frameshift variant +1 more) | Methylmalonic aciduria, cblB type | |
| | | Single nucleotide variant (splice donor variant) | Methylmalonic aciduria, cblB type | |
| | | Single nucleotide variant (nonsense +1 more) | Methylmalonic aciduria, cblB type | |
| | | Deletion (frameshift variant +1 more) | Methylmalonic aciduria, cblB type | |
| | | Single nucleotide variant (nonsense +1 more) | Methylmalonic aciduria, cblB type | |
| | | Single nucleotide variant (missense variant +1 more) | Methylmalonic aciduria, cblB type | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Methylmalonic aciduria, cblB type | |
| | | Single nucleotide variant (synonymous variant +1 more) | Methylmalonic aciduria, cblB type | |
| | | Single nucleotide variant (synonymous variant +1 more) | Methylmalonic aciduria, cblB type | |
| | | Single nucleotide variant (synonymous variant +1 more) | Methylmalonic aciduria, cblB type | |
| | | Single nucleotide variant (splice donor variant) | Methylmalonic aciduria, cblB type | |
| | | Single nucleotide variant (intron variant) | Methylmalonic aciduria, cblB type | |
| | | Single nucleotide variant (synonymous variant +1 more) | Methylmalonic aciduria, cblB type | |
| | | Single nucleotide variant (synonymous variant +1 more) | Methylmalonic aciduria, cblB type | |
| | | Single nucleotide variant (synonymous variant +1 more) | Methylmalonic aciduria, cblB type | |
| | | Single nucleotide variant (synonymous variant +1 more) | Methylmalonic aciduria, cblB type | |
| | | Single nucleotide variant (synonymous variant +1 more) | Methylmalonic aciduria, cblB type | |
| | | Single nucleotide variant (synonymous variant +1 more) | Methylmalonic aciduria, cblB type | |
| | | Single nucleotide variant (synonymous variant +1 more) | Methylmalonic aciduria, cblB type | |
| | | Single nucleotide variant (synonymous variant +1 more) | Methylmalonic aciduria, cblB type | |
| | | Single nucleotide variant (synonymous variant +1 more) | Methylmalonic aciduria, cblB type | |
| | | Single nucleotide variant (missense variant +1 more) | Methylmalonic aciduria, cblB type | |
| | | Single nucleotide variant (synonymous variant +1 more) | Methylmalonic aciduria, cblB type | |
| | | Single nucleotide variant (synonymous variant +1 more) | Methylmalonic aciduria, cblB type | |
| | | Single nucleotide variant (synonymous variant +1 more) | Methylmalonic aciduria, cblB type | |
| | | Single nucleotide variant (missense variant +1 more) | Methylmalonic aciduria, cblB type | |
| | | Duplication (frameshift variant +1 more) | Methylmalonic aciduria, cblB type | |
| | | Single nucleotide variant (missense variant +1 more) | Methylmalonic aciduria, cblB type | |
| | | Single nucleotide variant (nonsense +1 more) | Methylmalonic aciduria, cblB type | |
| | | Deletion (frameshift variant +1 more) | Methylmalonic aciduria, cblB type | |
| | | Single nucleotide variant (synonymous variant +1 more) | Methylmalonic aciduria, cblB type | |
| | | Single nucleotide variant (missense variant +1 more) | Methylmalonic aciduria, cblB type | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | Methylmalonic aciduria, cblB type | |
| | | Single nucleotide variant (synonymous variant +1 more) | Methylmalonic aciduria, cblB type | |
| | | Single nucleotide variant (synonymous variant +1 more) | Methylmalonic aciduria, cblB type | |
| | | Single nucleotide variant (synonymous variant +1 more) | Methylmalonic aciduria, cblB type | |
| | | Deletion | Hyperimmunoglobulin D with periodic fever +2 more | |
| | | Single nucleotide variant (missense variant +2 more) | Methylmalonic aciduria, cblB type | |
| | | Single nucleotide variant (missense variant +1 more) | Methylmalonic aciduria, cblB type | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Methylmalonic aciduria, cblB type +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Methylmalonic aciduria, cblB type | |
| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Methylmalonic aciduria, cblB type | |
| | | Single nucleotide variant (missense variant +1 more) | Methylmalonic aciduria, cblB type +2 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Hyperimmunoglobulin D with periodic fever +2 more | |
| | | Single nucleotide variant (missense variant +2 more) | Methylmalonic aciduria, cblB type | |
| | | Single nucleotide variant (missense variant +1 more) | Methylmalonic aciduria, cblB type | |
| | | Single nucleotide variant (synonymous variant +1 more) | Methylmalonic aciduria, cblB type | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | Methylmalonic aciduria, cblB type | |
| | | Single nucleotide variant (synonymous variant +1 more) | Methylmalonic aciduria, cblB type | |
| | | Single nucleotide variant (missense variant +1 more) | Methylmalonic aciduria, cblB type +1 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Deletion (frameshift variant +1 more) | Methylmalonic aciduria, cblB type | |
| | | Single nucleotide variant (nonsense +1 more) | Methylmalonic aciduria, cblB type +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Methylmalonic acidemia +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Methylmalonic aciduria, cblB type +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Methylmalonic acidemia +5 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +5 more | |
| | | Single nucleotide variant (missense variant +2 more) | Methylmalonic aciduria, cblB type | |
| | | Indel (missense variant +1 more) | not provided +1 more | |
| | | Microsatellite (inframe_deletion +1 more) | Methylmalonic aciduria, cblB type | |
| | | Single nucleotide variant (genic upstream transcript variant) | Hyperimmunoglobulin D with periodic fever | |
| | | Single nucleotide variant (missense variant) | Hyperimmunoglobulin D with periodic fever | |
| | | Single nucleotide variant (missense variant) | Hyperimmunoglobulin D with periodic fever | |
| | | Deletion (frameshift variant) | Hyperimmunoglobulin D with periodic fever | |
| | | Deletion | Hyperimmunoglobulin D with periodic fever | |
| | | Single nucleotide variant (missense variant) | Retinal dystrophy | |
| | | Single nucleotide variant (missense variant) | Hyperimmunoglobulin D with periodic fever | |
| | | Single nucleotide variant (intron variant) | Hyperimmunoglobulin D with periodic fever | |
| | | Deletion (splice donor variant +1 more) | Hyperimmunoglobulin D with periodic fever | |
| | | Duplication (intron variant) | Hyperimmunoglobulin D with periodic fever | |
| | | Single nucleotide variant (intron variant) | Hyperimmunoglobulin D with periodic fever | |
| | | Single nucleotide variant (intron variant) | Hyperimmunoglobulin D with periodic fever | |
| | | Single nucleotide variant (synonymous variant) | Hyperimmunoglobulin D with periodic fever | |
| | | Single nucleotide variant (missense variant) | Hyperimmunoglobulin D with periodic fever | |
| | | Single nucleotide variant (missense variant) | Hyperimmunoglobulin D with periodic fever | |
| | | Single nucleotide variant (missense variant) | Hyperimmunoglobulin D with periodic fever | |
| | | Single nucleotide variant (synonymous variant) | Hyperimmunoglobulin D with periodic fever | |
| | | Single nucleotide variant (splice acceptor variant) | Hyperimmunoglobulin D with periodic fever | |
| | | Single nucleotide variant (missense variant) | Hyperimmunoglobulin D with periodic fever | |
| | | Single nucleotide variant (missense variant) | Hyperimmunoglobulin D with periodic fever | |
| | | Single nucleotide variant (intron variant) | Hyperimmunoglobulin D with periodic fever | |
| | | Single nucleotide variant (missense variant) | Hyperimmunoglobulin D with periodic fever | |