| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | CSKMT, LBHD1 +1 more (A31T) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | CSKMT, LBHD1 +1 more (Q61*) | Single nucleotide variant (nonsense +1 more) | not provided | |
| | CSKMT, LBHD1 +1 more (G62R) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | CSKMT, LBHD1 +1 more (R78P) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | CSKMT, LBHD1 +1 more (G83A) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | CSKMT, LBHD1 +1 more (C90R) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | CSKMT, LBHD1 (D131N +7 more) | Single nucleotide variant (3 prime UTR variant +1 more) | not specified | |
| | CSKMT, LBHD1 (Q155H +7 more) | Single nucleotide variant (3 prime UTR variant +1 more) | not specified | |
| | CSKMT, LBHD1 (L124H +7 more) | Single nucleotide variant (3 prime UTR variant +1 more) | not specified | |
| | CSKMT, LBHD1 (P142A +7 more) | Single nucleotide variant (3 prime UTR variant +1 more) | not specified | |
| | CSKMT, LBHD1 (D38Y +7 more) | Single nucleotide variant (3 prime UTR variant +1 more) | not specified | |
| | | Duplication | not provided | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not provided | |
| | | Duplication | Leukocyte adhesion deficiency 3 | |
| | | Copy number gain | MISSED ABORTION | |
| | | Duplication | Larsen-like syndrome, B3GAT3 type | |
| | | Deletion | Intellectual disability | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |