| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LHCGR, STON1-GTF2A1L (D578G) | Single nucleotide variant (missense variant +1 more) | not provided +2 more | |
| | LHCGR, STON1-GTF2A1L (E557K) | Single nucleotide variant (missense variant +1 more) | Leydig cell agenesis +3 more | |
| | LHCGR, STON1-GTF2A1L (C545*) | Single nucleotide variant (nonsense +1 more) | Leydig cell agenesis +2 more | GPathogenic/Likely pathogenic |
| | | Duplication (inframe_insertion +1 more) | not provided +2 more | |
Click to view in NCBI Gene