NM_000233.4(LHCGR):c.1691A>G (p.Asp564Gly)Pathogenic
Gonadotropin-independent familial sexual precocity|not provided
β
β
ββ2025β Residue 564
NM_000233.4(LHCGR):c.1733A>G (p.Asp578Gly)Pathogenic
Gonadotropin-independent familial sexual precocity|Precocious puberty in males|not provided|Gonadotropin-independent familial sexual precocity;Leydig cell agenesis
β
β
ββ2025β Residue 578
NM_000233.4(LHCGR):c.1847C>A (p.Ser616Tyr)Pathogenic
Leydig hypoplasia, type I|not provided|Leydig cell agenesis
β
β
ββ2025β Residue 616
NM_000233.4(LHCGR):c.1691A>T (p.Asp564Val)Pathogenic
not provided|Gonadotropin-independent familial sexual precocity
β
β
ββ2025β Residue 564
NM_000233.4(LHCGR):c.562G>T (p.Glu188Ter)Pathogenic
not provided|Leydig cell agenesis
β
β
ββ2025β Residue 188
NM_000233.4(LHCGR):c.370C>T (p.Arg124Ter)Pathogenic
Leydig cell agenesis|not provided|LHCGR-related disorder
β
β
ββ2024β Residue 124
NM_000233.4(LHCGR):c.1624A>C (p.Ile542Leu)Pathogenic
Gonadotropin-independent familial sexual precocity|not provided|LHCGR-related disorder
β
β
ββ2024β Residue 542
NM_000233.4(LHCGR):c.1635C>A (p.Cys545Ter)Pathogenic
Leydig cell agenesis|Gonadotropin-independent familial sexual precocity;Leydig cell agenesis|not provided
β
β
ββ2023β Residue 545
NM_000233.4(LHCGR):c.1660C>T (p.Arg554Ter)Pathogenic
Leydig cell agenesis|Luteinizing hormone resistance, female|not provided|See cases|Disorder of sexual differentiation
β
β
ββ2023β Residue 554
NM_000233.4(LHCGR):c.1435C>T (p.Arg479Ter)Pathogenic
not provided|Gonadotropin-independent familial sexual precocity;Leydig cell agenesis
β
β
ββ2023β Residue 479
NM_000233.4(LHCGR):c.384-2A>GPathogenic
Leydig cell agenesis
β
βββ2026
NM_000233.4(LHCGR):c.1118C>T (p.Ala373Val)Likely pathogenic
Gonadotropin-independent familial sexual precocity
β
βββ2025β Residue 373
NM_000233.4(LHCGR):c.947+1G>CPathogenic
not provided
β
βββ2025
NM_000233.4(LHCGR):c.1060G>A (p.Glu354Lys)Pathogenic
Leydig cell agenesis|Luteinizing hormone resistance, female
β
βββ2024β Residue 354
NM_000233.4(LHCGR):c.1111_1112dup (p.Leu372fs)Pathogenic
not provided
β
βββ2024β Residue 372
NM_000233.4(LHCGR):c.220G>T (p.Glu74Ter)Pathogenic
not provided
β
βββ2024β Residue 74
NM_000233.4(LHCGR):c.866+1G>CLikely pathogenic
Gonadotropin-independent familial sexual precocity;Leydig cell agenesis
β
βββ2024
NM_000233.4(LHCGR):c.1193T>C (p.Met398Thr)Likely pathogenic
Gonadotropin-independent familial sexual precocity|Precocious puberty in males
β
βββ2024β Residue 398
NM_000233.4(LHCGR):c.1786del (p.Val596fs)Likely pathogenic
Gonadotropin-independent familial sexual precocity;Leydig cell agenesis
β
βββ2024β Residue 596
NM_000233.4(LHCGR):c.1732G>A (p.Asp578Asn)Likely pathogenic
Gonadotropin-independent familial sexual precocity;Leydig cell agenesis
β
βββ2024β Residue 578