| | | Copy number gain | See cases | |
| | CYB561A3, TKFC (P245A +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | CYB561A3, TKFC (R225C +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | CYB561A3, TKFC (R149C +2 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not specified | |
| | | Deletion (5 prime UTR variant) | Familial aplasia of the vermis | |
| | | Single nucleotide variant (5 prime UTR variant) | Familial aplasia of the vermis | |
| | | Single nucleotide variant (5 prime UTR variant) | Familial aplasia of the vermis | |
| | | Single nucleotide variant (5 prime UTR variant) | Familial aplasia of the vermis | |
| | | Single nucleotide variant (5 prime UTR variant) | Familial aplasia of the vermis | |
| | | Single nucleotide variant (5 prime UTR variant) | Familial aplasia of the vermis +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Familial aplasia of the vermis | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not provided | |
| | | Duplication | Leukocyte adhesion deficiency 3 | |
| | | Copy number gain | See cases | |
| | | Copy number gain | MISSED ABORTION | |
| | | Deletion | Intellectual disability | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | AAMDC, AASDHPPT +1289 more | Copy number gain | See cases | |
| | SLC37A4, SNORD26 +1289 more | Copy number gain | See cases | |