| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Deletion (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (stop lost +2 more) | Larsen-like syndrome, B3GAT3 type | |
| | | Single nucleotide variant (missense variant +2 more) | Larsen-like syndrome, B3GAT3 type | |
| | | Single nucleotide variant (missense variant +2 more) | Larsen-like syndrome, B3GAT3 type +1 more | |
| | | Deletion (frameshift variant +2 more) | Larsen-like syndrome, B3GAT3 type | |
| | | Single nucleotide variant (nonsense +2 more) | Larsen-like syndrome, B3GAT3 type | |
| | | Single nucleotide variant (missense variant +2 more) | Larsen-like syndrome, B3GAT3 type | |
| | | Single nucleotide variant (synonymous variant +2 more) | Larsen-like syndrome, B3GAT3 type | |
| | | Single nucleotide variant (missense variant +2 more) | Larsen-like syndrome, B3GAT3 type +1 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | Larsen-like syndrome, B3GAT3 type | |
| | | Single nucleotide variant (missense variant +2 more) | Larsen-like syndrome, B3GAT3 type +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | Larsen-like syndrome, B3GAT3 type +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | Larsen-like syndrome, B3GAT3 type | |
| | | Single nucleotide variant (missense variant +2 more) | Larsen-like syndrome, B3GAT3 type | |
| | | Single nucleotide variant (missense variant +2 more) | Larsen-like syndrome, B3GAT3 type | |
| | | Single nucleotide variant (nonsense +2 more) | Larsen-like syndrome, B3GAT3 type | |
| | | Single nucleotide variant (missense variant +2 more) | Larsen-like syndrome, B3GAT3 type | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | See cases +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Larsen-like syndrome, B3GAT3 type | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Larsen-like syndrome, B3GAT3 type | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Larsen-like syndrome, B3GAT3 type | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Larsen-like syndrome, B3GAT3 type | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Larsen-like syndrome, B3GAT3 type | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Larsen-like syndrome, B3GAT3 type | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Larsen-like syndrome, B3GAT3 type | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Microsatellite (frameshift variant +1 more) | not provided +1 more | |
| | | Insertion (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Deletion (intron variant) | Larsen-like syndrome, B3GAT3 type +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | Larsen-like syndrome, B3GAT3 type | |
| | | Single nucleotide variant (synonymous variant +1 more) | Larsen-like syndrome, B3GAT3 type | |
| | | Single nucleotide variant (missense variant +1 more) | Larsen-like syndrome, B3GAT3 type | |
| | | Single nucleotide variant (missense variant +1 more) | Larsen-like syndrome, B3GAT3 type | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Larsen-like syndrome, B3GAT3 type | |
| | | Single nucleotide variant (missense variant +1 more) | Larsen-like syndrome, B3GAT3 type | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Larsen-like syndrome, B3GAT3 type | |
| | | Single nucleotide variant (synonymous variant +1 more) | Larsen-like syndrome, B3GAT3 type | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Larsen-like syndrome, B3GAT3 type | |
| | | Single nucleotide variant (missense variant +1 more) | Larsen-like syndrome, B3GAT3 type | |
| | | Single nucleotide variant (synonymous variant +1 more) | Larsen-like syndrome, B3GAT3 type | |
| | | Single nucleotide variant (missense variant +1 more) | Larsen-like syndrome, B3GAT3 type +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Larsen-like syndrome, B3GAT3 type | |
| | | Single nucleotide variant (synonymous variant +1 more) | Larsen-like syndrome, B3GAT3 type | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Larsen-like syndrome, B3GAT3 type | |
| | | Single nucleotide variant (missense variant +1 more) | Larsen-like syndrome, B3GAT3 type +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Larsen-like syndrome, B3GAT3 type | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Larsen-like syndrome, B3GAT3 type | |
| | | Single nucleotide variant (missense variant +1 more) | Larsen-like syndrome, B3GAT3 type +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Larsen-like syndrome, B3GAT3 type +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Larsen-like syndrome, B3GAT3 type | |
| | | Single nucleotide variant (synonymous variant +1 more) | Larsen-like syndrome, B3GAT3 type | |
| | | Single nucleotide variant (missense variant +1 more) | Larsen-like syndrome, B3GAT3 type | |
| | | Single nucleotide variant (missense variant +1 more) | Larsen-like syndrome, B3GAT3 type | |
| | | Single nucleotide variant (missense variant +1 more) | Larsen-like syndrome, B3GAT3 type +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Larsen-like syndrome, B3GAT3 type | |
| | | Single nucleotide variant (synonymous variant +1 more) | Larsen-like syndrome, B3GAT3 type | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Larsen-like syndrome, B3GAT3 type | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Larsen-like syndrome, B3GAT3 type | |
| | | Single nucleotide variant (synonymous variant +1 more) | Larsen-like syndrome, B3GAT3 type | |
| | | Single nucleotide variant (synonymous variant +1 more) | Larsen-like syndrome, B3GAT3 type | |
| | | Single nucleotide variant (synonymous variant +1 more) | Larsen-like syndrome, B3GAT3 type | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Larsen-like syndrome, B3GAT3 type +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH CONGENITAL HEART DEFECTS | |
| | | Single nucleotide variant (synonymous variant +1 more) | Larsen-like syndrome, B3GAT3 type | |
| | | Deletion (inframe_deletion +1 more) | Larsen-like syndrome, B3GAT3 type | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (splice acceptor variant) | Larsen-like syndrome, B3GAT3 type | |
| | | Duplication (intron variant) | Larsen-like syndrome, B3GAT3 type | |
| | | Single nucleotide variant (intron variant) | Larsen-like syndrome, B3GAT3 type | |
| | | Single nucleotide variant (intron variant) | Larsen-like syndrome, B3GAT3 type | |
| | | Single nucleotide variant (intron variant) | Larsen-like syndrome, B3GAT3 type | |
| | | Single nucleotide variant (intron variant) | Larsen-like syndrome, B3GAT3 type | |
| | | Single nucleotide variant (intron variant) | Larsen-like syndrome, B3GAT3 type | |
| | | Single nucleotide variant (intron variant) | Larsen-like syndrome, B3GAT3 type | |
| | | Single nucleotide variant (intron variant) | Larsen-like syndrome, B3GAT3 type | |