Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
---|
OMIM | 136350.0007 | Disease | p.ALA134SER | HYPOGONADOTROPIC HYPOGONADISM 2 WITH ANOSMIA |
OMIM | 136350.0025 | Disease | p.ARG217GLN | HYPOGONADOTROPIC HYPOGONADISM 2 WITHOUT ANOSMIA, SUSCEPTIBILITY TO |
OMIM | 136350.0016 | Disease | p.ARG437LEU | HYPOGONADOTROPIC HYPOGONADISM 2 WITHOUT ANOSMIA, SUSCEPTIBILITY TO |
OMIM | 136350.0018 | Disease | p.ARG576TER | HYPOGONADOTROPIC HYPOGONADISM 2 WITH ANOSMIA, SUSCEPTIBILITY TO |
OMIM | 136350.0004 | Disease | p.ARG589TER | HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, SUSCEPTIBILITY||TO |
OMIM | 136350.0009 | Disease | p.ASN297ILE | OSTEOGLOPHONIC DYSPLASIA |
OMIM | 136350.0014 | Disease | p.ASN691LYS | HYPOGONADOTROPIC HYPOGONADISM 2 WITHOUT ANOSMIA, SUSCEPTIBILITY TO |
OMIM | 136350.0032 | Disease | p.ASP590TYR | HARTSFIELD SYNDROME |
OMIM | 136350.0024 | Disease | p.ASP735TYR | HYPOGONADOTROPIC HYPOGONADISM 2 WITHOUT ANOSMIA, SUSCEPTIBILITY TO |
OMIM | 136350.0010 | Disease | p.CYS346ARG | OSTEOGLOPHONIC DYSPLASIA |
OMIM | 136350.0012 | Disease | p.CYS348ARG | OSTEOGLOPHONIC DYSPLASIA |
OMIM | 136350.0030 | Disease | p.CYS692TYR | HARTSFIELD SYNDROME |
OMIM | 136350.0023 | Disease | p.GLN731HIS | HYPOGONADOTROPIC HYPOGONADISM 2 WITHOUT ANOSMIA |
OMIM | 136350.0015 | Disease | p.GLN647TER | HYPOGONADOTROPIC HYPOGONADISM 2 WITHOUT ANOSMIA |
OMIM | 136350.0028 | Disease | p.GLU659GLY | HYPOGONADOTROPIC HYPOGONADISM 2 WITH ANOSMIA, SUSCEPTIBILITY TO |
OMIM | 136350.0029 | Disease | p.GLU637LYS | HYPOGONADOTROPIC HYPOGONADISM 2 WITH ANOSMIA, SUSCEPTIBILITY TO |
OMIM | 136350.0026 | Disease | p.GLY315ARG | HYPOGONADOTROPIC HYPOGONADISM 2 WITH ANOSMIA, SUSCEPTIBILITY TO |
OMIM | 136350.0020 | Disease | p.GLY15SER | HYPOGONADOTROPIC HYPOGONADISM 2 WITHOUT ANOSMIA |
OMIM | 136350.0013 | Disease | p.GLY204SER | HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, SUSCEPTIBILITY||TO |
OMIM | 136350.0011 | Disease | p.ILE267THR | TRIGONOCEPHALY 1 |
OMIM | 136350.0031 | Disease | p.LEU132SER | HARTSFIELD SYNDROME |
OMIM | 136350.0017 | Disease | p.LEU309SER | HYPOGONADOTROPIC HYPOGONADISM 2 WITH ANOSMIA, SUSCEPTIBILITY TO |
OMIM | 136350.0001 | Disease | p.PRO219ARG | PFEIFFER SYNDROME||JACKSON-WEISS SYNDROME, INCLUDED |
OMIM | 136350.0014 | Disease | p.PRO689HIS | HYPOGONADOTROPIC HYPOGONADISM 2 WITHOUT ANOSMIA, SUSCEPTIBILITY TO |
OMIM | 136350.0021 | Disease | p.PRO333LEU | HYPOGONADOTROPIC HYPOGONADISM 2 WITH ANOSMIA, SUSCEPTIBILITY TO |
OMIM | 136350.0022 | Disease | p.PRO689SER | HYPOGONADOTROPIC HYPOGONADISM 2 WITH ANOSMIA |
OMIM | 136350.0027 | Disease | p.PRO450THR | HYPOGONADOTROPIC HYPOGONADISM 2 WITH ANOSMIA, SUSCEPTIBILITY TO |
OMIM | 136350.0003 | Disease | p.TRP633ARG | HYPOGONADOTROPIC HYPOGONADISM 2 WITH ANOSMIA, SUSCEPTIBILITY TO |
OMIM | 136350.0008 | Disease | p.TYR339CYS | OSTEOGLOPHONIC DYSPLASIA |
OMIM | 136350.0005 | Disease | p.VAL574MET | HYPOGONADOTROPIC HYPOGONADISM 2 WITH ANOSMIA, SUSCEPTIBILITY TO |