| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Duplication | Chromosome 2q32-q33 deletion syndrome | |
| | | Single nucleotide variant (missense variant) | ivacaftor response - Efficacy | |
| | | Single nucleotide variant (missense variant) | Cystic fibrosis | |
| | | Single nucleotide variant (missense variant) | not specified +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Microsatellite (frameshift variant) | WEE2-related disorder +1 more | |
| | | Single nucleotide variant (missense variant) | Oocyte maturation defect 5 | |
| | | Single nucleotide variant (nonsense) | Spermatogenic failure 31 | |
| | | Single nucleotide variant (nonsense) | Spermatogenic failure 31 | |
| | | Single nucleotide variant (missense variant) | Isolated lutropin deficiency | |
| | | Single nucleotide variant (nonsense +1 more) | Oocyte/zygote/embryo maturation arrest 18 | |
| | | Single nucleotide variant (nonsense) | Spermatogenic failure 87 | |
| | | Single nucleotide variant (stop lost) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Indel | Spermatogenic failure, X-linked, 4 | |
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