| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LHCGR, STON1-GTF2A1L (L622M) | Single nucleotide variant (missense variant +1 more) | Leydig cell agenesis | |
| | LHCGR, STON1-GTF2A1L (S616Y) | Single nucleotide variant (missense variant +1 more) | Leydig cell agenesis +1 more | GPathogenic/Likely pathogenic |
| | STON1-GTF2A1L, LHCGR (R554*) | Single nucleotide variant (nonsense +1 more) | not provided +1 more | GPathogenic/Likely pathogenic |
| | LHCGR, STON1-GTF2A1L (Y331*) | Single nucleotide variant (nonsense +1 more) | Leydig cell agenesis | |
Click to view in NCBI Gene