| | LOC129937446, LOC129937447 +1343 more | Copy number gain | See cases | |
| | LOC129937268, LOC129937269 +2645 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC126806816, LOC126806817 +484 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant | Deafness-lymphedema-leukemia syndrome +1 more | |
| | | Deletion | Deafness-lymphedema-leukemia syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Deafness-lymphedema-leukemia syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Deafness-lymphedema-leukemia syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Deafness-lymphedema-leukemia syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Deafness-lymphedema-leukemia syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Deafness-lymphedema-leukemia syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Deafness-lymphedema-leukemia syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Deafness-lymphedema-leukemia syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Deafness-lymphedema-leukemia syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Deafness-lymphedema-leukemia syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Deafness-lymphedema-leukemia syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Deafness-lymphedema-leukemia syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Deafness-lymphedema-leukemia syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Deafness-lymphedema-leukemia syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Deafness-lymphedema-leukemia syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Deafness-lymphedema-leukemia syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Deafness-lymphedema-leukemia syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Deafness-lymphedema-leukemia syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Deafness-lymphedema-leukemia syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Deafness-lymphedema-leukemia syndrome | |
| | | Microsatellite (3 prime UTR variant) | Deafness-lymphedema-leukemia syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Deafness-lymphedema-leukemia syndrome +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Deafness-lymphedema-leukemia syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Deafness-lymphedema-leukemia syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Deafness-lymphedema-leukemia syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Deafness-lymphedema-leukemia syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Deafness-lymphedema-leukemia syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Deafness-lymphedema-leukemia syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Deafness-lymphedema-leukemia syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Deafness-lymphedema-leukemia syndrome +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant) | Deafness-lymphedema-leukemia syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Deafness-lymphedema-leukemia syndrome +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Deafness-lymphedema-leukemia syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant) | Deafness-lymphedema-leukemia syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant) | Deafness-lymphedema-leukemia syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Deafness-lymphedema-leukemia syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Deafness-lymphedema-leukemia syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Deafness-lymphedema-leukemia syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Deafness-lymphedema-leukemia syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Deafness-lymphedema-leukemia syndrome | |
| | | Single nucleotide variant (stop lost) | Monocytopenia with susceptibility to infections +1 more | |
| | | Single nucleotide variant (missense variant) | Deafness-lymphedema-leukemia syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant) | Deafness-lymphedema-leukemia syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Deafness-lymphedema-leukemia syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant) | Deafness-lymphedema-leukemia syndrome +3 more | |
| | | Single nucleotide variant (missense variant) | Deafness-lymphedema-leukemia syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Monocytopenia with susceptibility to infections +1 more | |
| | | Single nucleotide variant (missense variant) | Deafness-lymphedema-leukemia syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Monocytopenia with susceptibility to infections +1 more | |
| | | Single nucleotide variant (missense variant) | Deafness-lymphedema-leukemia syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Acute myeloid leukemia +2 more | |
| | | Single nucleotide variant (missense variant) | Monocytopenia with susceptibility to infections +1 more | |
| | | Single nucleotide variant (missense variant) | Deafness-lymphedema-leukemia syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant) | Monocytopenia with susceptibility to infections +1 more | |
| | | Single nucleotide variant (synonymous variant) | Deafness-lymphedema-leukemia syndrome +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Deafness-lymphedema-leukemia syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Deafness-lymphedema-leukemia syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant) | Monocytopenia with susceptibility to infections +1 more | |
| | | Indel (missense variant) | Deafness-lymphedema-leukemia syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Deafness-lymphedema-leukemia syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant) | Deafness-lymphedema-leukemia syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Monocytopenia with susceptibility to infections +1 more | |
| | | Single nucleotide variant (missense variant) | Monocytopenia with susceptibility to infections +1 more | |
| | | Single nucleotide variant (synonymous variant) | Deafness-lymphedema-leukemia syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | not specified +2 more | |
| | | Single nucleotide variant (missense variant) | Deafness-lymphedema-leukemia syndrome | |
| | | Single nucleotide variant (synonymous variant) | Deafness-lymphedema-leukemia syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Deafness-lymphedema-leukemia syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Deletion (inframe_deletion) | Deafness-lymphedema-leukemia syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant) | not specified +2 more | |
| | | Single nucleotide variant (synonymous variant) | Monocytopenia with susceptibility to infections +1 more | |
| | | Microsatellite (frameshift variant) | Deafness-lymphedema-leukemia syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Monocytopenia with susceptibility to infections +1 more | |
| | | Single nucleotide variant (missense variant) | Monocytopenia with susceptibility to infections +1 more | |
| | | Single nucleotide variant (missense variant) | Deafness-lymphedema-leukemia syndrome +5 more | |
| | | Single nucleotide variant (synonymous variant) | Deafness-lymphedema-leukemia syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant) | Deafness-lymphedema-leukemia syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Monocytopenia with susceptibility to infections +1 more | |
| | | Single nucleotide variant (synonymous variant) | Deafness-lymphedema-leukemia syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Deafness-lymphedema-leukemia syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant) | Deafness-lymphedema-leukemia syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Deafness-lymphedema-leukemia syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Deafness-lymphedema-leukemia syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant) | not specified +2 more | |
| | | Single nucleotide variant (synonymous variant) | Deafness-lymphedema-leukemia syndrome +1 more | |