| | LHCGR, STON1-GTF2A1L (K310T) | Single nucleotide variant (missense variant +1 more) | LHCGR-related disorder | |
| | LHCGR, STON1-GTF2A1L (E27Q) | Single nucleotide variant (missense variant +1 more) | LHCGR-related disorder | |
| | LHCGR, STON1-GTF2A1L (A7V) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | LHCGR, STON1-GTF2A1L (G46S) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | LHCGR, STON1-GTF2A1L (Q675P) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | LHCGR, STON1-GTF2A1L (R695H) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | LHCGR, STON1-GTF2A1L (R23G) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | LHCGR, STON1-GTF2A1L (E148V) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | LHCGR, STON1-GTF2A1L (I78V) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | LHCGR, STON1-GTF2A1L (F667L) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | LHCGR, STON1-GTF2A1L (N507S) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | LHCGR, STON1-GTF2A1L (T469I) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | LHCGR, STON1-GTF2A1L (Q421H) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | LHCGR, STON1-GTF2A1L (S420F) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | LHCGR, STON1-GTF2A1L (T197P) | Single nucleotide variant (missense variant +1 more) | Leydig cell agenesis | |
| | | Single nucleotide variant (synonymous variant +1 more) | LHCGR-related disorder | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | STON1-GTF2A1L-related disorder | |
| | | Single nucleotide variant (intron variant) | LHCGR-related disorder | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Microsatellite (inframe_insertion +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | LHCGR, STON1-GTF2A1L (S6L) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Duplication (inframe_insertion +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | LHCGR, STON1-GTF2A1L (M509T) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | LHCGR, STON1-GTF2A1L (L401P) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | LHCGR, STON1-GTF2A1L (H278Y) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | LHCGR, STON1-GTF2A1L (D157N) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | LHCGR, STON1-GTF2A1L (H209Y) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Microsatellite (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | LHCGR, STON1-GTF2A1L (L11P) | Single nucleotide variant (missense variant +1 more) | LHCGR-related disorder | |
| | LHCGR, STON1-GTF2A1L (L10P) | Single nucleotide variant (missense variant +1 more) | LHCGR-related disorder | |
| | LHCGR, STON1-GTF2A1L (L607V) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | LHCGR, STON1-GTF2A1L (A442T) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | LHCGR, STON1-GTF2A1L (T441I) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | LHCGR, STON1-GTF2A1L (L97F) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | LHCGR, STON1-GTF2A1L (G40C) | Single nucleotide variant (missense variant +1 more) | Leydig cell agenesis | |
| | | Single nucleotide variant (intron variant +1 more) | not provided | |
| | LHCGR, STON1-GTF2A1L (Y331*) | Single nucleotide variant (nonsense +1 more) | Leydig cell agenesis | |
| | LHCGR, STON1-GTF2A1L (L622M) | Single nucleotide variant (missense variant +1 more) | Leydig cell agenesis | |
| | LHCGR, STON1-GTF2A1L (S253P) | Single nucleotide variant (missense variant +1 more) | 46,XY disorder of sex development | |
| | LHCGR, STON1-GTF2A1L (S66P) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | LHCGR, STON1-GTF2A1L (I249T) | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | LHCGR, STON1-GTF2A1L (R395C) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | LHCGR, STON1-GTF2A1L (T197M) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | LHCGR, STON1-GTF2A1L (L242V) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | LHCGR, STON1-GTF2A1L (G489V) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | LHCGR, STON1-GTF2A1L (R342Q) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | LHCGR, STON1-GTF2A1L (A689T) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | LHCGR, STON1-GTF2A1L (V380A) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | LHCGR, STON1-GTF2A1L (E188*) | Single nucleotide variant (nonsense +1 more) | not provided | |
| | LHCGR, STON1-GTF2A1L (R479*) | Single nucleotide variant (nonsense +1 more) | not provided | |
| | LHCGR, STON1-GTF2A1L (S639N) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | LHCGR, STON1-GTF2A1L (R646C) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | LHCGR, STON1-GTF2A1L (I164T) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | LHCGR, STON1-GTF2A1L (I83M) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | LHCGR, STON1-GTF2A1L (T602I) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | LHCGR, STON1-GTF2A1L (V393G) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | LHCGR, STON1-GTF2A1L (A344D) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | LHCGR, STON1-GTF2A1L (M408I) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | |
| | LHCGR, STON1-GTF2A1L (L16Q) | Single nucleotide variant (missense variant +1 more) | See cases | |
| | LHCGR, STON1-GTF2A1L (P224L) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | LHCGR, STON1-GTF2A1L (Y623S) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | STON1-GTF2A1L, LHCGR (D564V) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | LHCGR, STON1-GTF2A1L (A449T) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Duplication (inframe_insertion +1 more) | not provided +2 more | |
| | LHCGR, STON1-GTF2A1L (M571I) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | LHCGR, STON1-GTF2A1L (I366T) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Deletion (inframe_deletion +1 more) | not provided | |
| | LHCGR, STON1-GTF2A1L (G504S) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | LHCGR, STON1-GTF2A1L (A118V) | Single nucleotide variant (missense variant +1 more) | Leydig cell agenesis | |
| | LHCGR, STON1-GTF2A1L (K12fs) | Insertion (frameshift variant +1 more) | not provided | |
| | STON1-GTF2A1L, LHCGR (V596G) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | LHCGR, STON1-GTF2A1L (L384I) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | LHCGR, STON1-GTF2A1L (E289G) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |