| | LOC129997450, LOC129997451 +1002 more | Copy number gain | See cases | |
| | LOC129389719, LOC129389720 +866 more | Copy number gain | See cases | |
| | LOC101929460, LOC102724087 +572 more | Copy number gain | See cases | |
| | LOC129997640, LOC129997641 +564 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC126859858, LOC126859859 +340 more | Copy number loss | See cases | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Duplication (frameshift variant) | Spermatogenic failure 57 | |
| | | Duplication (frameshift variant +1 more) | Male infertility with azoospermia or oligozoospermia due to single gene mutation | |
| | | Single nucleotide variant (missense variant) | Spermatogenic failure 57 | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Male infertility with azoospermia or oligozoospermia due to single gene mutation | |
| | | 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 (synonymous 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 (splice acceptor variant) | Male infertility with azoospermia or oligozoospermia due to single gene mutation | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Non-obstructive azoospermia +1 more | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Male infertility | |
| | | Single nucleotide variant (missense variant) | Spermatogenic failure 57 | |
| | | 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 (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Male infertility | |
| | | Indel (frameshift variant) | not provided | |
| | | 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 (splice donor variant) | Spermatogenic failure 57 | |
| | | Single nucleotide variant (nonsense) | Male infertility with azoospermia or oligozoospermia due to single gene mutation | |
| | | Single nucleotide variant (missense variant) | Non-obstructive azoospermia | |
| | | 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 loss | See cases | |
| | | Copy number gain | not provided | |
| | | Deletion | not provided | |
| | | Copy number loss | See cases | |
| | | Copy number loss | Hydrocephalus | |
| | | Copy number loss | not specified | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Complex | Coffin-Siris syndrome 1 | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |