| | | Copy number loss | See cases | |
| | | Duplication | Cutis laxa, autosomal recessive, type 1B | |
| | | Microsatellite (3 prime UTR variant) | Male infertility | |
| | | Single nucleotide variant (3 prime UTR variant) | Spermatogenic failure 7 | |
| | | Single nucleotide variant (3 prime UTR variant) | Spermatogenic failure 7 | |
| | | Single nucleotide variant (3 prime UTR variant) | Spermatogenic failure 7 | |
| | | Single nucleotide variant (synonymous 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) | Spermatogenic failure 7 +1 more | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | Spermatogenic failure 7 | |
| | | Single nucleotide variant (intron variant) | Spermatogenic failure 7 | |
| | | Single nucleotide variant (intron 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 (intron variant) | Spermatogenic failure 7 | |
| | | Single nucleotide variant (synonymous variant) | Spermatogenic failure 7 | |
| | | Single nucleotide variant (missense variant) | not specified +1 more | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Spermatogenic failure 7 | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | 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) | not specified | |
| | | Single nucleotide variant (missense variant) | Spermatogenic failure 7 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Spermatogenic failure 7 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Spermatogenic failure 7 | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Spermatogenic failure 7 | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified +1 more | |
| | | 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) | CATSPER1-related disorder | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Spermatogenic failure 7 | |
| | | Single nucleotide variant (intron variant) | Spermatogenic failure 7 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | CATSPER1-related disorder | |
| | | Single nucleotide variant (intron variant) | Spermatogenic failure 7 | |
| | | Single nucleotide variant (intron variant) | Spermatogenic failure 7 | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Spermatogenic failure 7 | |
| | | Single nucleotide variant (missense variant) | Spermatogenic failure 7 +1 more | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | Spermatogenic failure 7 +1 more | |
| | | Single nucleotide variant (missense variant) | Spermatogenic failure 7 +1 more | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Spermatogenic failure 7 | |
| | | Single nucleotide variant (missense variant) | Spermatogenic failure 7 | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Spermatogenic failure 7 | |
| | | 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) | Spermatogenic failure 7 | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | Spermatogenic failure 7 +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Spermatogenic failure 7 | |
| | | 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 (synonymous variant) | Spermatogenic failure 7 | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Spermatogenic failure 7 | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Spermatogenic failure 7 | |
| | | 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) | Spermatogenic failure 7 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Spermatogenic failure 7 +1 more | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified +1 more | |
| | | Duplication (frameshift variant) | Spermatogenic failure 7 | |
| | | Single nucleotide variant (missense variant) | Spermatogenic failure 7 | |
| | | Single nucleotide variant (missense variant) | Spermatogenic failure 7 | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | CATSPER1-related disorder | |