Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
---|
Swiss-Prot | VAR_003560 | Disease | p.ALA593PRO | Luteinizing hormone resistance (LHR) |
Swiss-Prot | VAR_003553 | Disease | p.ALA373VAL | Familial male precocious puberty (FMPP) |
Swiss-Prot | VAR_003555 | Disease | p.ALA568VAL | Familial male precocious puberty (FMPP) |
Swiss-Prot | VAR_003557 | Disease | p.ALA572VAL | Familial male precocious puberty (FMPP) |
Swiss-Prot | VAR_003550 | Polymorphism | p.ASN284SER | N/A |
dbSNP | rs12470652 | Polymorphism | p.ASN291SER | N/A |
dbSNP | rs2293275 | Polymorphism | p.ASN312SER | N/A |
Swiss-Prot | VAR_035764 | Polymorphism | p.ASP564ASN | N/A |
Swiss-Prot | VAR_010161 | Disease | p.ASP578GLU | Familial male precocious puberty (FMPP) |
Swiss-Prot | VAR_010159 | Disease | p.ASP564GLY | Familial male precocious puberty (FMPP) |
Swiss-Prot | VAR_003559 | Disease | p.ASP578GLY | Familial male precocious puberty (FMPP) |
Swiss-Prot | VAR_010162 | Polymorphism | p.ASP578HIS | N/A |
Swiss-Prot | VAR_010163 | Disease | p.ASP578TYR | Familial male precocious puberty (FMPP) |
Swiss-Prot | VAR_010154 | Disease | p.CYS131ARG | Luteinizing hormone resistance (LHR) |
Swiss-Prot | VAR_010158 | Disease | p.CYS543ARG | Luteinizing hormone resistance (LHR) |
Swiss-Prot | VAR_010164 | Disease | p.CYS581ARG | Familial male precocious puberty (FMPP) |
Swiss-Prot | VAR_010155 | Disease | p.CYS343SER | Luteinizing hormone resistance (LHR) |
Swiss-Prot | VAR_003552 | Disease | p.GLU354LYS | Luteinizing hormone resistance (LHR) |
Swiss-Prot | VAR_010157 | Disease | p.ILE542LEU | Familial male precocious puberty (FMPP) |
Swiss-Prot | VAR_010160 | Disease | p.ILE575LEU | Familial male precocious puberty (FMPP) |
Swiss-Prot | VAR_003563 | Disease | p.ILE625LYS | Luteinizing hormone resistance (LHR) |
Swiss-Prot | VAR_062337 | Disease | p.ILE152THR | Luteinizing hormone resistance (LHR) |
Swiss-Prot | VAR_010156 | Disease | p.LEU457ARG | Familial male precocious puberty (FMPP) |
Swiss-Prot | VAR_062338 | Disease | p.LEU368PRO | Familial male precocious puberty (FMPP) |
Swiss-Prot | VAR_062339 | Disease | p.LEU502PRO | Luteinizing hormone resistance (LHR) |
Swiss-Prot | VAR_003556 | Disease | p.MET571ILE | Familial male precocious puberty (FMPP) |
Swiss-Prot | VAR_003554 | Disease | p.MET398THR | Familial male precocious puberty (FMPP) |
Swiss-Prot | VAR_003551 | Polymorphism | p.SER306ASN | N/A |
Swiss-Prot | VAR_003562 | Disease | p.SER616TYR | Luteinizing hormone resistance (LHR) |
Swiss-Prot | VAR_003558 | Disease | p.THR577ILE | Familial male precocious puberty (FMPP) |
Swiss-Prot | VAR_062336 | Disease | p.VAL144PHE | Luteinizing hormone resistance (LHR) |
OMIM | 152790.0004 | Disease | p.ALA593PRO | LEYDIG CELL HYPOPLASIA, TYPE I||LUTEINIZING HORMONE RESISTANCE, FEMALE, INCLUDED |
OMIM | 152790.0013 | Disease | p.ALA373VAL | PRECOCIOUS PUBERTY, MALE-LIMITED |
OMIM | 152790.0023 | Disease | p.ALA568VAL | PRECOCIOUS PUBERTY, MALE-LIMITED |
OMIM | 152790.0006 | Disease | p.ALA572VAL | PRECOCIOUS PUBERTY, MALE-LIMITED |
OMIM | 152790.0012 | Disease | p.ARG133CYS | LEYDIG CELL HYPOPLASIA, TYPE II |
OMIM | 152790.0008 | Disease | p.ARG554TER | LEYDIG CELL HYPOPLASIA, TYPE I||LUTEINIZING HORMONE RESISTANCE, FEMALE, INCLUDED |
OMIM | 152790.0029 | Disease | p.ASP564GLY | PRECOCIOUS PUBERTY, MALE-LIMITED |
OMIM | 152790.0001 152790.0011 | Disease | p.ASP578GLY | PRECOCIOUS PUBERTY, MALE-LIMITED |
OMIM | 152790.0003 | Disease | p.ASP582GLY | PRECOCIOUS PUBERTY, MALE-LIMITED |
OMIM | 152790.0019 | Disease | p.ASP578HIS | LEYDIG CELL ADENOMA, SOMATIC, WITH MALE-LIMITED PRECOCIOUS PUBERTY |
OMIM | 152790.0026 | Disease | p.CYS543ARG | LEYDIG CELL HYPOPLASIA, TYPE I |
OMIM | 152790.0025 | Disease | p.CYS343SER | LEYDIG CELL HYPOPLASIA, TYPE I |
OMIM | 152790.0007 | Disease | p.CYS545TER | LEYDIG CELL HYPOPLASIA, TYPE I |
OMIM | 152790.0014 | Disease | p.GLU354LYS | LEYDIG CELL HYPOPLASIA, TYPE I||LUTEINIZING HORMONE RESISTANCE, FEMALE, INCLUDED |
OMIM | 152790.0018 | Disease | p.ILE542LEU | PRECOCIOUS PUBERTY, MALE-LIMITED |
OMIM | 152790.0016 | Disease | p.ILE625LYS | LEYDIG CELL HYPOPLASIA, TYPE II |
OMIM | 152790.0024 | Disease | p.LEU457ARG | PRECOCIOUS PUBERTY, MALE-LIMITED |
OMIM | 152790.0022 | Disease | p.LEU368PRO | PRECOCIOUS PUBERTY, MALE-LIMITED |
OMIM | 152790.0027 | Disease | p.LEU502PRO | LEYDIG CELL HYPOPLASIA, TYPE I |
OMIM | 152790.0002 | Disease | p.MET575ILE | PRECOCIOUS PUBERTY, MALE-LIMITED |
OMIM | 152790.0010 | Disease | p.MET398THR | PRECOCIOUS PUBERTY, MALE-LIMITED |
OMIM | 152790.0009 | Disease | p.SER616TYR | LEYDIG HYPOPLASIA, TYPE I |
OMIM | 152790.0005 | Disease | p.THR577ILE | PRECOCIOUS PUBERTY, MALE-LIMITED |
OMIM | 152790.0028 | Disease | p.VAL144PHE | LEYDIG CELL HYPOPLASIA, TYPE I |