| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Duplication | Chromosome 16q12 duplication syndrome | |
| | | Copy number loss | not specified | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Deletion | not provided | |
| | | Deletion | Dyskeratosis congenita, autosomal dominant 6 | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (missense variant) | Azoospermia | |
| | | Single nucleotide variant (nonsense) | Spermatogenic failure 60 | |
| | | Deletion (frameshift variant) | Spermatogenic failure 60 | |
| | | Single nucleotide variant (nonsense) | Non-obstructive azoospermia | |
| | | 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 | Poly (ADP-Ribose) polymerase inhibitor response | |
| | KCTD19, KIAA0513 +368 more | Copy number loss | Poly (ADP-Ribose) polymerase inhibitor response | |
| | | 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 loss | Breast ductal adenocarcinoma | |
| | | Copy number loss | Breast ductal adenocarcinoma | |
| | | Complex | Breast ductal adenocarcinoma | |
| | LOC130059125, LOC130059126 +675 more | Copy number gain | See cases | |
| | LOC130059420, LOC130059421 +869 more | Copy number gain | See cases | |
| | MIR138-2, MIR140 +1738 more | Copy number gain | See cases | |
| | LOC130059829, LOC130059830 +1429 more | Copy number gain | See cases | |
| | LOC130059834, LOC130059835 +1424 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | ATP6V0D1, B3GNT9 +113 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC108281164, LOC109029536 +1426 more | Copy number gain | See cases | |
| | LOC130059197, LOC130059198 +575 more | Copy number gain | See cases | |
| | LOC130059330, LOC130059331 +599 more | Copy number gain | See cases | |