Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
---|
OMIM | 136350.0007 | Disease | p.ALA126SER | HYPOGONADOTROPIC HYPOGONADISM 2 WITH ANOSMIA |
OMIM | 136350.0025 | Disease | p.ARG211GLN | HYPOGONADOTROPIC HYPOGONADISM 2 WITHOUT ANOSMIA, SUSCEPTIBILITY TO |
OMIM | 136350.0016 | Disease | p.ARG429LEU | HYPOGONADOTROPIC HYPOGONADISM 2 WITHOUT ANOSMIA, SUSCEPTIBILITY TO |
OMIM | 136350.0018 | Disease | p.ARG568TER | HYPOGONADOTROPIC HYPOGONADISM 2 WITH ANOSMIA, SUSCEPTIBILITY TO |
OMIM | 136350.0004 | Disease | p.ARG581TER | HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, SUSCEPTIBILITY||TO |
OMIM | 136350.0009 | Disease | p.ASN291ILE | OSTEOGLOPHONIC DYSPLASIA |
OMIM | 136350.0014 | Disease | p.ASN683LYS | HYPOGONADOTROPIC HYPOGONADISM 2 WITHOUT ANOSMIA, SUSCEPTIBILITY TO |
OMIM | 136350.0032 | Disease | p.ASP582TYR | HARTSFIELD SYNDROME |
OMIM | 136350.0024 | Disease | p.ASP727TYR | HYPOGONADOTROPIC HYPOGONADISM 2 WITHOUT ANOSMIA, SUSCEPTIBILITY TO |
OMIM | 136350.0010 | Disease | p.CYS340ARG | OSTEOGLOPHONIC DYSPLASIA |
OMIM | 136350.0012 | Disease | p.CYS342ARG | OSTEOGLOPHONIC DYSPLASIA |
OMIM | 136350.0030 | Disease | p.CYS684TYR | HARTSFIELD SYNDROME |
OMIM | 136350.0023 | Disease | p.GLN723HIS | HYPOGONADOTROPIC HYPOGONADISM 2 WITHOUT ANOSMIA |
OMIM | 136350.0015 | Disease | p.GLN639TER | HYPOGONADOTROPIC HYPOGONADISM 2 WITHOUT ANOSMIA |
OMIM | 136350.0028 | Disease | p.GLU651GLY | HYPOGONADOTROPIC HYPOGONADISM 2 WITH ANOSMIA, SUSCEPTIBILITY TO |
OMIM | 136350.0029 | Disease | p.GLU629LYS | HYPOGONADOTROPIC HYPOGONADISM 2 WITH ANOSMIA, SUSCEPTIBILITY TO |
OMIM | 136350.0026 | Disease | p.GLY309ARG | HYPOGONADOTROPIC HYPOGONADISM 2 WITH ANOSMIA, SUSCEPTIBILITY TO |
OMIM | 136350.0013 | Disease | p.GLY198SER | HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, SUSCEPTIBILITY||TO |
OMIM | 136350.0011 | Disease | p.ILE261THR | TRIGONOCEPHALY 1 |
OMIM | 136350.0031 | Disease | p.LEU124SER | HARTSFIELD SYNDROME |
OMIM | 136350.0017 | Disease | p.LEU303SER | HYPOGONADOTROPIC HYPOGONADISM 2 WITH ANOSMIA, SUSCEPTIBILITY TO |
OMIM | 136350.0001 | Disease | p.PRO213ARG | PFEIFFER SYNDROME||JACKSON-WEISS SYNDROME, INCLUDED |
OMIM | 136350.0014 | Disease | p.PRO681HIS | HYPOGONADOTROPIC HYPOGONADISM 2 WITHOUT ANOSMIA, SUSCEPTIBILITY TO |
OMIM | 136350.0021 | Disease | p.PRO327LEU | HYPOGONADOTROPIC HYPOGONADISM 2 WITH ANOSMIA, SUSCEPTIBILITY TO |
OMIM | 136350.0022 | Disease | p.PRO681SER | HYPOGONADOTROPIC HYPOGONADISM 2 WITH ANOSMIA |
OMIM | 136350.0027 | Disease | p.PRO442THR | HYPOGONADOTROPIC HYPOGONADISM 2 WITH ANOSMIA, SUSCEPTIBILITY TO |
OMIM | 136350.0003 | Disease | p.TRP625ARG | HYPOGONADOTROPIC HYPOGONADISM 2 WITH ANOSMIA, SUSCEPTIBILITY TO |
OMIM | 136350.0008 | Disease | p.TYR333CYS | OSTEOGLOPHONIC DYSPLASIA |
OMIM | 136350.0005 | Disease | p.VAL566MET | HYPOGONADOTROPIC HYPOGONADISM 2 WITH ANOSMIA, SUSCEPTIBILITY TO |