| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Deletion | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| | | Copy number loss | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| | LOC126862572, TMEM101 (I15F) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | LOC126862572, TMEM101 (G6R) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | LOC126862572, TMEM101 (K4N) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | LOC126862572, TMEM101 (L22P) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | CD300LG, CFAP97D1 +29 more | Copy number gain | Anomalous pulmonary venous return | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | LOC126862572, TMEM101 (A24V +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | LOC126862572, TMEM101 (G6S) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | LOC126862572, TMEM101 (C26Y) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | LOC126862572, TMEM101 (A34T +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | LOC126862572, TMEM101 (I95N +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | LOC126862572, TMEM101 (G30C) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | ALOX12, ALOX12B +1143 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC130060786, LOC130060787 +633 more | Copy number gain | See cases | |
| | LOC126862582, LOC126862583 +1753 more | Copy number gain | See cases | |