| | ADGRB3, ADGRB3-DT +310 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (3 prime UTR variant) | Methylmalonic aciduria and homocystinuria type cblF | |
| | | Single nucleotide variant (3 prime UTR variant) | Methylmalonic aciduria and homocystinuria type cblF | |
| | | Single nucleotide variant (3 prime UTR variant) | Methylmalonic aciduria and homocystinuria type cblF | |
| | | Single nucleotide variant (3 prime UTR variant) | Methylmalonic aciduria and homocystinuria type cblF | |
| | | Single nucleotide variant (3 prime UTR variant) | Methylmalonic aciduria and homocystinuria type cblF | |
| | | Single nucleotide variant (3 prime UTR variant) | Methylmalonic aciduria and homocystinuria type cblF | |
| | | Single nucleotide variant (3 prime UTR variant) | Methylmalonic aciduria and homocystinuria type cblF | |
| | | Single nucleotide variant (3 prime UTR variant) | Methylmalonic aciduria and homocystinuria type cblF | |
| | | Single nucleotide variant (synonymous variant) | Methylmalonic aciduria and homocystinuria type cblF | |
| | | Single nucleotide variant (missense variant) | Methylmalonic aciduria and homocystinuria type cblF | |
| | | Single nucleotide variant (synonymous variant) | Methylmalonic aciduria and homocystinuria type cblF | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Methylmalonic aciduria and homocystinuria type cblF | |
| | | Single nucleotide variant (synonymous variant) | Methylmalonic aciduria and homocystinuria type cblF | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (synonymous variant) | Methylmalonic aciduria and homocystinuria type cblF | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Methylmalonic aciduria and homocystinuria type cblF | |
| | | Single nucleotide variant (synonymous variant) | Methylmalonic aciduria and homocystinuria type cblF | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | Methylmalonic aciduria and homocystinuria type cblF | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Methylmalonic aciduria and homocystinuria type cblF | |
| | | Single nucleotide variant (synonymous variant) | Methylmalonic aciduria and homocystinuria type cblF | |
| | | Single nucleotide variant (missense variant) | Methylmalonic aciduria and homocystinuria type cblF | |
| | | Single nucleotide variant (intron variant) | Methylmalonic aciduria and homocystinuria type cblF | |
| | | Single nucleotide variant (intron variant) | Methylmalonic aciduria and homocystinuria type cblF | |
| | | Single nucleotide variant (intron variant) | Methylmalonic aciduria and homocystinuria type cblF | |
| | | Single nucleotide variant (intron variant) | Methylmalonic aciduria and homocystinuria type cblF | |
| | | Single nucleotide variant (intron variant) | Methylmalonic aciduria and homocystinuria type cblF +1 more | |
| | | Single nucleotide variant (intron variant) | Methylmalonic aciduria and homocystinuria type cblF | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not specified +2 more | |
| | | Single nucleotide variant (intron variant) | Methylmalonic aciduria and homocystinuria type cblF +1 more | |
| | | Single nucleotide variant (intron variant) | Methylmalonic aciduria and homocystinuria type cblF +1 more | |
| | | Single nucleotide variant (intron variant) | not specified +2 more | |
| | | Single nucleotide variant (intron variant) | Methylmalonic aciduria and homocystinuria type cblF | |
| | | Single nucleotide variant (intron variant) | Methylmalonic aciduria and homocystinuria type cblF | |
| | | Single nucleotide variant (intron variant) | Methylmalonic aciduria and homocystinuria type cblF | |
| | | Single nucleotide variant (intron variant) | Methylmalonic aciduria and homocystinuria type cblF | |
| | | Single nucleotide variant (intron variant) | Methylmalonic aciduria and homocystinuria type cblF | |
| | | Single nucleotide variant (synonymous variant) | Methylmalonic aciduria and homocystinuria type cblF | |
| | | Single nucleotide variant (missense variant) | Methylmalonic aciduria and homocystinuria type cblF +1 more | |
| | | Single nucleotide variant (synonymous variant) | Methylmalonic aciduria and homocystinuria type cblF | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Methylmalonic aciduria and homocystinuria type cblF | |
| | | Single nucleotide variant (synonymous variant) | Methylmalonic aciduria and homocystinuria type cblF | |
| | | Single nucleotide variant (nonsense) | Methylmalonic aciduria and homocystinuria type cblF | |
| | | Single nucleotide variant (synonymous variant) | Methylmalonic aciduria and homocystinuria type cblF | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Methylmalonic aciduria and homocystinuria type cblF | |
| | | Single nucleotide variant (missense variant) | Methylmalonic aciduria and homocystinuria type cblF | |
| | | Single nucleotide variant (missense variant) | Methylmalonic aciduria and homocystinuria type cblF | |
| | | Single nucleotide variant (synonymous variant) | Methylmalonic aciduria and homocystinuria type cblF | |
| | | Single nucleotide variant (intron variant) | Methylmalonic aciduria and homocystinuria type cblF | |
| | | Single nucleotide variant (intron variant) | Methylmalonic aciduria and homocystinuria type cblF | |
| | | Single nucleotide variant (intron variant) | Methylmalonic aciduria and homocystinuria type cblF | |
| | | Duplication (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Methylmalonic aciduria and homocystinuria type cblF | |
| | | Single nucleotide variant (intron variant) | Methylmalonic aciduria and homocystinuria type cblF | |
| | | Single nucleotide variant (synonymous variant) | Methylmalonic aciduria and homocystinuria type cblF | |
| | | Single nucleotide variant (missense variant) | not specified +1 more | |
| | | Single nucleotide variant (synonymous variant) | Methylmalonic aciduria and homocystinuria type cblF | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Insertion (frameshift variant) | Cobalamin C disease | |
| | | Single nucleotide variant (synonymous variant) | Methylmalonic aciduria and homocystinuria type cblF | |
| | | Single nucleotide variant (synonymous variant) | Methylmalonic aciduria and homocystinuria type cblF | |
| | | Single nucleotide variant (missense variant) | Methylmalonic aciduria and homocystinuria type cblF | |
| | | Single nucleotide variant (missense variant) | Methylmalonic aciduria and homocystinuria type cblF | |
| | | Single nucleotide variant (synonymous variant) | Methylmalonic aciduria and homocystinuria type cblF | |
| | | Single nucleotide variant (synonymous variant) | Methylmalonic aciduria and homocystinuria type cblF | |
| | | Single nucleotide variant (missense variant) | Methylmalonic aciduria and homocystinuria type cblF | |
| | | Single nucleotide variant (missense variant) | Methylmalonic aciduria and homocystinuria type cblF | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (synonymous variant) | Methylmalonic aciduria and homocystinuria type cblF | |
| | | Single nucleotide variant (splice acceptor variant) | Methylmalonic aciduria and homocystinuria type cblF | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | Methylmalonic aciduria and homocystinuria type cblF | |
| | | Single nucleotide variant (intron variant) | Methylmalonic aciduria and homocystinuria type cblF | |
| | | Single nucleotide variant (intron variant) | Methylmalonic aciduria and homocystinuria type cblF | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (splice donor variant) | Methylmalonic aciduria and homocystinuria type cblF +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice donor variant) | Methylmalonic aciduria and homocystinuria type cblF | |
| | | Single nucleotide variant (missense variant) | Methylmalonic aciduria and homocystinuria type cblF | |
| | | Single nucleotide variant (nonsense) | Methylmalonic aciduria and homocystinuria type cblF | |
| | | Single nucleotide variant (synonymous variant) | Methylmalonic aciduria and homocystinuria type cblF | |
| | | Single nucleotide variant (synonymous variant) | Methylmalonic aciduria and homocystinuria type cblF | |
| | | Single nucleotide variant (synonymous variant) | Methylmalonic aciduria and homocystinuria type cblF | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (synonymous variant) | Methylmalonic aciduria and homocystinuria type cblF | |
| | | Duplication (frameshift variant) | Methylmalonic aciduria and homocystinuria type cblF | |
| | | Single nucleotide variant (synonymous variant) | Methylmalonic aciduria and homocystinuria type cblF | |
| | | Single nucleotide variant (synonymous variant) | Methylmalonic aciduria and homocystinuria type cblF | |
| | | Single nucleotide variant (synonymous variant) | Methylmalonic aciduria and homocystinuria type cblF | |
| | | Single nucleotide variant (missense variant) | Methylmalonic aciduria and homocystinuria type cblF | |