| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Deletion (intron variant) | not provided | |
| | HNRNPUL2-BSCL2, BSCL2 +1 more (D26E) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (genic upstream transcript variant +2 more) | Neuronopathy, distal hereditary motor, type 5C +4 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not specified +2 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | GNG3, HNRNPUL2-BSCL2 +1 more | Single nucleotide variant (intron variant) | Reduced delayed hypersensitivity +2 more | |
| | GNG3, HNRNPUL2-BSCL2 +1 more | Single nucleotide variant (genic upstream transcript variant +1 more) | not provided | |
| | GNG3, HNRNPUL2-BSCL2 +1 more | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Microsatellite (frameshift variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | 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 | |
| | | Deletion | Intellectual disability | |
| | | Copy number gain | not provided | |
| | AAMDC, AASDHPPT +1289 more | Copy number gain | See cases | |
| | SLC37A4, SNORD26 +1289 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |