Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
---|
OMIM | 136350.0007 | Disease | p.ALA167SER | HYPOGONADOTROPIC HYPOGONADISM 2 WITH ANOSMIA |
OMIM | 136350.0025 | Disease | p.ARG250GLN | HYPOGONADOTROPIC HYPOGONADISM 2 WITHOUT ANOSMIA, SUSCEPTIBILITY TO |
OMIM | 136350.0016 | Disease | p.ARG470LEU | HYPOGONADOTROPIC HYPOGONADISM 2 WITHOUT ANOSMIA, SUSCEPTIBILITY TO |
OMIM | 136350.0018 | Disease | p.ARG609TER | HYPOGONADOTROPIC HYPOGONADISM 2 WITH ANOSMIA, SUSCEPTIBILITY TO |
OMIM | 136350.0004 | Disease | p.ARG622TER | HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, SUSCEPTIBILITY||TO |
OMIM | 136350.0009 | Disease | p.ASN330ILE | OSTEOGLOPHONIC DYSPLASIA |
OMIM | 136350.0014 | Disease | p.ASN724LYS | HYPOGONADOTROPIC HYPOGONADISM 2 WITHOUT ANOSMIA, SUSCEPTIBILITY TO |
OMIM | 136350.0032 | Disease | p.ASP623TYR | HARTSFIELD SYNDROME |
OMIM | 136350.0024 | Disease | p.ASP768TYR | HYPOGONADOTROPIC HYPOGONADISM 2 WITHOUT ANOSMIA, SUSCEPTIBILITY TO |
OMIM | 136350.0010 | Disease | p.CYS379ARG | OSTEOGLOPHONIC DYSPLASIA |
OMIM | 136350.0012 | Disease | p.CYS381ARG | OSTEOGLOPHONIC DYSPLASIA |
OMIM | 136350.0030 | Disease | p.CYS725TYR | HARTSFIELD SYNDROME |
OMIM | 136350.0023 | Disease | p.GLN764HIS | HYPOGONADOTROPIC HYPOGONADISM 2 WITHOUT ANOSMIA |
OMIM | 136350.0015 | Disease | p.GLN680TER | HYPOGONADOTROPIC HYPOGONADISM 2 WITHOUT ANOSMIA |
OMIM | 136350.0028 | Disease | p.GLU692GLY | HYPOGONADOTROPIC HYPOGONADISM 2 WITH ANOSMIA, SUSCEPTIBILITY TO |
OMIM | 136350.0029 | Disease | p.GLU670LYS | HYPOGONADOTROPIC HYPOGONADISM 2 WITH ANOSMIA, SUSCEPTIBILITY TO |
OMIM | 136350.0026 | Disease | p.GLY348ARG | HYPOGONADOTROPIC HYPOGONADISM 2 WITH ANOSMIA, SUSCEPTIBILITY TO |
OMIM | 136350.0013 | Disease | p.GLY237SER | HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, SUSCEPTIBILITY||TO |
OMIM | 136350.0020 | Disease | p.GLY48SER | HYPOGONADOTROPIC HYPOGONADISM 2 WITHOUT ANOSMIA |
OMIM | 136350.0011 | Disease | p.ILE300THR | TRIGONOCEPHALY 1 |
OMIM | 136350.0031 | Disease | p.LEU165SER | HARTSFIELD SYNDROME |
OMIM | 136350.0017 | Disease | p.LEU342SER | HYPOGONADOTROPIC HYPOGONADISM 2 WITH ANOSMIA, SUSCEPTIBILITY TO |
OMIM | 136350.0001 | Disease | p.PRO252ARG | PFEIFFER SYNDROME||JACKSON-WEISS SYNDROME, INCLUDED |
OMIM | 136350.0014 | Disease | p.PRO722HIS | HYPOGONADOTROPIC HYPOGONADISM 2 WITHOUT ANOSMIA, SUSCEPTIBILITY TO |
OMIM | 136350.0021 | Disease | p.PRO366LEU | HYPOGONADOTROPIC HYPOGONADISM 2 WITH ANOSMIA, SUSCEPTIBILITY TO |
OMIM | 136350.0022 | Disease | p.PRO722SER | HYPOGONADOTROPIC HYPOGONADISM 2 WITH ANOSMIA |
OMIM | 136350.0027 | Disease | p.PRO483THR | HYPOGONADOTROPIC HYPOGONADISM 2 WITH ANOSMIA, SUSCEPTIBILITY TO |
OMIM | 136350.0003 | Disease | p.TRP666ARG | HYPOGONADOTROPIC HYPOGONADISM 2 WITH ANOSMIA, SUSCEPTIBILITY TO |
OMIM | 136350.0008 | Disease | p.TYR372CYS | OSTEOGLOPHONIC DYSPLASIA |
OMIM | 136350.0005 | Disease | p.VAL607MET | HYPOGONADOTROPIC HYPOGONADISM 2 WITH ANOSMIA, SUSCEPTIBILITY TO |