| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not specified | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Copy number gain | not provided | |
| | | Duplication | Familial colorectal cancer +1 more | |
| | | Copy number loss | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | 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 | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Duplication | not provided | |
| | | Deletion | Primary amenorrhea | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | ALDH1A2, ALDH1A3 +444 more | Copy number gain | See cases | |
| | | Copy number gain | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number loss | Premature ovarian failure | |
| | | Copy number loss | See cases | |
| | LOC116268473, LOC116268474 +1244 more | Copy number gain | See cases | |
| | LOC130057927, LOC130057928 +1764 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC130057943, LOC130057944 +664 more | Copy number gain | See cases | |
| | ADAMTSL3, LOC126862204 +24 more | Copy number gain | See cases | |
| | LOC130057773, LOC130057774 +72 more | Copy number gain | See cases | |