Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
---|
OMIM | 136350.0007 | Disease | p.ALA45SER | HYPOGONADOTROPIC HYPOGONADISM 2 WITH ANOSMIA |
OMIM | 136350.0025 | Disease | p.ARG128GLN | HYPOGONADOTROPIC HYPOGONADISM 2 WITHOUT ANOSMIA, SUSCEPTIBILITY TO |
OMIM | 136350.0016 | Disease | p.ARG348LEU | HYPOGONADOTROPIC HYPOGONADISM 2 WITHOUT ANOSMIA, SUSCEPTIBILITY TO |
OMIM | 136350.0018 | Disease | p.ARG487TER | HYPOGONADOTROPIC HYPOGONADISM 2 WITH ANOSMIA, SUSCEPTIBILITY TO |
OMIM | 136350.0004 | Disease | p.ARG500TER | HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, SUSCEPTIBILITY||TO |
OMIM | 136350.0009 | Disease | p.ASN208ILE | OSTEOGLOPHONIC DYSPLASIA |
OMIM | 136350.0014 | Disease | p.ASN602LYS | HYPOGONADOTROPIC HYPOGONADISM 2 WITHOUT ANOSMIA, SUSCEPTIBILITY TO |
OMIM | 136350.0032 | Disease | p.ASP501TYR | HARTSFIELD SYNDROME |
OMIM | 136350.0024 | Disease | p.ASP646TYR | HYPOGONADOTROPIC HYPOGONADISM 2 WITHOUT ANOSMIA, SUSCEPTIBILITY TO |
OMIM | 136350.0010 | Disease | p.CYS257ARG | OSTEOGLOPHONIC DYSPLASIA |
OMIM | 136350.0012 | Disease | p.CYS259ARG | OSTEOGLOPHONIC DYSPLASIA |
OMIM | 136350.0030 | Disease | p.CYS603TYR | HARTSFIELD SYNDROME |
OMIM | 136350.0023 | Disease | p.GLN642HIS | HYPOGONADOTROPIC HYPOGONADISM 2 WITHOUT ANOSMIA |
OMIM | 136350.0015 | Disease | p.GLN558TER | HYPOGONADOTROPIC HYPOGONADISM 2 WITHOUT ANOSMIA |
OMIM | 136350.0028 | Disease | p.GLU570GLY | HYPOGONADOTROPIC HYPOGONADISM 2 WITH ANOSMIA, SUSCEPTIBILITY TO |
OMIM | 136350.0029 | Disease | p.GLU548LYS | HYPOGONADOTROPIC HYPOGONADISM 2 WITH ANOSMIA, SUSCEPTIBILITY TO |
OMIM | 136350.0026 | Disease | p.GLY226ARG | HYPOGONADOTROPIC HYPOGONADISM 2 WITH ANOSMIA, SUSCEPTIBILITY TO |
OMIM | 136350.0013 | Disease | p.GLY115SER | HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, SUSCEPTIBILITY||TO |
OMIM | 136350.0020 | Disease | p.GLY15SER | HYPOGONADOTROPIC HYPOGONADISM 2 WITHOUT ANOSMIA |
OMIM | 136350.0011 | Disease | p.ILE178THR | TRIGONOCEPHALY 1 |
OMIM | 136350.0017 | Disease | p.LEU220SER | HYPOGONADOTROPIC HYPOGONADISM 2 WITH ANOSMIA, SUSCEPTIBILITY TO |
OMIM | 136350.0031 | Disease | p.LEU43SER | HARTSFIELD SYNDROME |
OMIM | 136350.0001 | Disease | p.PRO130ARG | PFEIFFER SYNDROME||JACKSON-WEISS SYNDROME, INCLUDED |
OMIM | 136350.0014 | Disease | p.PRO600HIS | HYPOGONADOTROPIC HYPOGONADISM 2 WITHOUT ANOSMIA, SUSCEPTIBILITY TO |
OMIM | 136350.0021 | Disease | p.PRO244LEU | HYPOGONADOTROPIC HYPOGONADISM 2 WITH ANOSMIA, SUSCEPTIBILITY TO |
OMIM | 136350.0022 | Disease | p.PRO600SER | HYPOGONADOTROPIC HYPOGONADISM 2 WITH ANOSMIA |
OMIM | 136350.0027 | Disease | p.PRO361THR | HYPOGONADOTROPIC HYPOGONADISM 2 WITH ANOSMIA, SUSCEPTIBILITY TO |
OMIM | 136350.0003 | Disease | p.TRP544ARG | HYPOGONADOTROPIC HYPOGONADISM 2 WITH ANOSMIA, SUSCEPTIBILITY TO |
OMIM | 136350.0008 | Disease | p.TYR250CYS | OSTEOGLOPHONIC DYSPLASIA |
OMIM | 136350.0005 | Disease | p.VAL485MET | HYPOGONADOTROPIC HYPOGONADISM 2 WITH ANOSMIA, SUSCEPTIBILITY TO |