| | | Duplication | not provided | |
| | | Copy number loss | See cases | |
| | LINC02128, LINC02133 +209 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | Breast ductal adenocarcinoma | |
| | LOC110120583, LOC110120584 +136 more | Copy number loss | See cases | |
| | LINC02168, LINC02169 +675 more | Copy number gain | See cases | |
| | LOC129390791, LOC129390792 +97 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Duplication (3 prime UTR variant) | Townes-Brocks syndrome 1 | |
| | | Duplication (3 prime UTR variant) | Townes-Brocks syndrome 1 | |
| | | Microsatellite (3 prime UTR variant) | Townes-Brocks syndrome 1 +1 more | GConflicting classifications of pathogenicity |
| | | Deletion (3 prime UTR variant) | Townes-Brocks syndrome 1 | |
| | | Deletion (3 prime UTR variant) | Townes-Brocks syndrome 1 | |
| | | Deletion (3 prime UTR variant) | Townes-Brocks syndrome 1 | |
| | | Microsatellite (3 prime UTR variant) | not provided | |
| | | Microsatellite (3 prime UTR variant) | not provided +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | SALL1-related condition | |
| | | Single nucleotide variant (synonymous variant) | Townes syndrome | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Townes syndrome | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Townes syndrome | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided +4 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Townes syndrome | |
| | | Single nucleotide variant (missense variant) | Townes syndrome | |
| | | Single nucleotide variant (synonymous variant) | Townes syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | SALL1-related condition +2 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Townes syndrome +3 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | SALL1-related condition | |
| | | Single nucleotide variant (missense variant) | Townes-Brocks syndrome 1 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Townes syndrome | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not specified +3 more | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Townes syndrome | |
| | | Single nucleotide variant (synonymous variant) | Townes syndrome | |
| | | Single nucleotide variant (missense variant) | SALL1-related condition +4 more | |
| | | Single nucleotide variant (missense variant) | Townes-Brocks syndrome 1 | |
| | | Single nucleotide variant (missense variant) | SALL1-related condition +3 more | |
| | | Single nucleotide variant (missense variant) | Townes-Brocks syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Townes syndrome +2 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Townes syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | Townes syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant) | Townes syndrome | |
| | | Single nucleotide variant (missense variant) | Townes syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant) | Townes syndrome | |
| | | Single nucleotide variant (missense variant) | Townes syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Townes syndrome | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | Townes syndrome | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Townes syndrome | |
| | | Single nucleotide variant (synonymous variant) | SALL1-related condition +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (synonymous variant) | Townes syndrome | |
| | | Microsatellite (intron variant) | not specified +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | Townes syndrome | |
| | | Deletion (frameshift variant) | Townes syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | Townes syndrome | |
| | | Deletion (frameshift variant) | Townes-Brocks syndrome 1 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Townes syndrome | |
| | | Single nucleotide variant (missense variant) | Townes syndrome | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Townes-Brocks syndrome 1 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Townes syndrome | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Townes-Brocks syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Townes syndrome +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not specified +1 more | |
| | | Single nucleotide variant (missense variant) | Townes syndrome +3 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Townes-Brocks syndrome 1 | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Townes-Brocks syndrome 1 | |