Links from MedGen
Items: 5
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Sudden infant death-dysgenesis of the testes syndrome | |
| | TSPYL1, DSE
+1 more (G79fs) | Deletion (frameshift variant +1 more) | Sudden infant death-dysgenesis of the testes syndrome | |
| | | Single nucleotide variant | Sudden infant death-dysgenesis of the testes syndrome | |
| | | Microsatellite (frameshift variant +1 more) | Sudden infant death-dysgenesis of the testes syndrome | GPathogenic/Likely pathogenic |
| | DSE, LOC129997035
+1 more (E154fs) | Duplication (frameshift variant +1 more) | Sudden infant death-dysgenesis of the testes syndrome | |
Click to view in NCBI Gene