| | | Single nucleotide variant (missense variant +3 more) | not specified | |
| | | Single nucleotide variant (missense variant +3 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Copy number gain | not specified | |
| | | Duplication | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Copy number gain | Pallister-Killian syndrome | |
| | | Single nucleotide variant (missense variant +3 more) | not specified | |
| | | Single nucleotide variant (missense variant +3 more) | not specified | |
| | | Single nucleotide variant (missense variant +3 more) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant +3 more) | not specified | |
| | LMO3, MGST1 (A163V +3 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Single nucleotide variant (intron variant) | Pulmonary disease, chronic obstructive, susceptibility to | |
| | | Single nucleotide variant (intron variant) | Pulmonary disease, chronic obstructive, susceptibility to | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Pulmonary disease, chronic obstructive, susceptibility to | |
| | | Single nucleotide variant (intron variant) | Pulmonary disease, chronic obstructive, susceptibility to | |
| | | Copy number loss | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Complex | Breast ductal adenocarcinoma | |
| | | Copy number gain | See cases | |
| | DERA, LOC110120934 +6 more | Copy number loss | See cases | |
| | LOC110120907, LOC124625916 +1 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC126861648, LOC126861649 +4836 more | Copy number gain | See cases | |
| | LOC130007425, LOC130007426 +1257 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC124625919, LOC124625920 +1009 more | Copy number gain | See cases | |
| | LOC130007649, LOC130007650 +1258 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |