| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | CNBP-related disorder | |
| | | Deletion (intron variant) | CNBP-related disorder | |
| | | Microsatellite (intron variant) | CNBP-related disorder | |
| | | Deletion (intron variant) | CNBP-related disorder | |
| | | Microsatellite (intron variant) | CNBP-related disorder | |
| | | Single nucleotide variant (intron variant) | CNBP-related disorder | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Myotonic dystrophy type 2 | |
| | | Duplication | Deafness-lymphedema-leukemia syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Copy number gain | not provided | |
| | ISY1-RAB43, ITGB5 +109 more | Deletion | Alkaptonuria | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | |
| | | Deletion | Deafness-lymphedema-leukemia syndrome +1 more | |
| | | Deletion | Deafness-lymphedema-leukemia syndrome +1 more | |
| | | Duplication | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC129937446, LOC129937447 +1343 more | Copy number gain | See cases | |
| | LOC126806816, LOC126806817 +484 more | Copy number gain | See cases | |
| | LOC129937268, LOC129937269 +2645 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Microsatellite | Myotonic dystrophy type 2 | |