Links from MedGen
Items: 12
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | not specified +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Spermatogenic failure 19 | |
| | | Duplication (frameshift variant) | Spermatogenic failure 19 | |
| | | Single nucleotide variant (nonsense) | Spermatogenic failure 19 | |
| | | Microsatellite (frameshift variant) | Spermatogenic failure 19 | |
| | | Single nucleotide variant (splice acceptor variant) | Spermatogenic failure 19 | |
| | | Deletion (splice acceptor variant) | Spermatogenic failure 19 | |
| | | Deletion (splice acceptor variant +1 more) | Spermatogenic failure 19 | |
| | | Single nucleotide variant (missense variant) | Spermatogenic failure 19 | |
| | | Single nucleotide variant (missense variant) | Spermatogenic failure 19 | |
| | | Single nucleotide variant (nonsense) | Spermatogenic failure 19 | |
| | | Single nucleotide variant (nonsense) | Spermatogenic failure 19 | |
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