Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
---|
Swiss-Prot | VAR_029999 | Disease | p.ALA99PRO | Diabetes insipidus, neurohypophyseal (NDI) |
Swiss-Prot | VAR_004981 | Disease | p.ALA19THR | Diabetes insipidus, neurohypophyseal (NDI) |
Swiss-Prot | VAR_004982 | Disease | p.ALA19VAL | Diabetes insipidus, neurohypophyseal (NDI) |
Swiss-Prot | VAR_004985 | Disease | p.ARG51CYS | Diabetes insipidus, neurohypophyseal (NDI) |
Swiss-Prot | VAR_015272 | Disease | p.ARG97CYS | Diabetes insipidus, neurohypophyseal (NDI) |
Swiss-Prot | VAR_015273 | Disease | p.ARG97PRO | Diabetes insipidus, neurohypophyseal (NDI) |
Swiss-Prot | VAR_015276 | Disease | p.CYS105ARG | Diabetes insipidus, neurohypophyseal (NDI) |
Swiss-Prot | VAR_015278 | Disease | p.CYS116ARG | Diabetes insipidus, neurohypophyseal (NDI) |
Swiss-Prot | VAR_015264 | Disease | p.CYS52ARG | Diabetes insipidus, neurohypophyseal (NDI) |
Swiss-Prot | VAR_015267 | Disease | p.CYS59ARG | Diabetes insipidus, neurohypophyseal (NDI) |
Swiss-Prot | VAR_019275 | Disease | p.CYS104GLY | Diabetes insipidus, neurohypophyseal (NDI) |
Swiss-Prot | VAR_015277 | Disease | p.CYS116GLY | Diabetes insipidus, neurohypophyseal (NDI) |
Swiss-Prot | VAR_015274 | Disease | p.CYS98GLY | Diabetes insipidus, neurohypophyseal (NDI) |
Swiss-Prot | VAR_015275 | Disease | p.CYS104PHE | Diabetes insipidus, neurohypophyseal (NDI) |
Swiss-Prot | VAR_029997 | Disease | p.CYS58PHE | Diabetes insipidus, neurohypophyseal (NDI) |
Swiss-Prot | VAR_004992 | Disease | p.CYS92SER | Diabetes insipidus, neurohypophyseal (NDI) |
Swiss-Prot | VAR_029998 | Disease | p.CYS98SER | Diabetes insipidus, neurohypophyseal (NDI) |
Swiss-Prot | VAR_019276 | Disease | p.CYS116TRP | Diabetes insipidus, neurohypophyseal (NDI) |
Swiss-Prot | VAR_015279 | Disease | p.CYS105TYR | Diabetes insipidus, neurohypophyseal (NDI) |
Swiss-Prot | VAR_015268 | Disease | p.CYS59TYR | Diabetes insipidus, neurohypophyseal (NDI) |
Swiss-Prot | VAR_015270 | Disease | p.CYS92TYR | Diabetes insipidus, neurohypophyseal (NDI) |
Swiss-Prot | VAR_004988 | Disease | p.GLU78GLY | Diabetes insipidus, neurohypophyseal (NDI) |
Swiss-Prot | VAR_004983 | Disease | p.GLY45ARG | Diabetes insipidus, neurohypophyseal (NDI) |
Swiss-Prot | VAR_015265 | Disease | p.GLY54ARG | Diabetes insipidus, neurohypophyseal (NDI) |
Swiss-Prot | VAR_004990 | Disease | p.GLY88ARG | Diabetes insipidus, neurohypophyseal (NDI) |
Swiss-Prot | VAR_019274 | Disease | p.GLY96ASP | Diabetes insipidus, neurohypophyseal (NDI) |
Swiss-Prot | VAR_004994 | Disease | p.GLY96CYS | Diabetes insipidus, neurohypophyseal (NDI) |
Swiss-Prot | VAR_004991 | Disease | p.GLY88SER | Diabetes insipidus, neurohypophyseal (NDI) |
Swiss-Prot | VAR_004993 | Disease | p.GLY93TRP | Diabetes insipidus, neurohypophyseal (NDI) |
Swiss-Prot | VAR_011895 | Polymorphism | p.GLY119VAL | N/A |
Swiss-Prot | VAR_004984 | Disease | p.GLY48VAL | Diabetes insipidus, neurohypophyseal (NDI) |
Swiss-Prot | VAR_015266 | Disease | p.GLY54VAL | Diabetes insipidus, neurohypophyseal (NDI) |
Swiss-Prot | VAR_015271 | Disease | p.GLY96VAL | Diabetes insipidus, neurohypophyseal (NDI) |
Swiss-Prot | VAR_004989 | Disease | p.LEU81PRO | Diabetes insipidus, neurohypophyseal (NDI) |
Swiss-Prot | VAR_015263 | Disease | p.PRO26LEU | Diabetes insipidus, neurohypophyseal (NDI) |
Swiss-Prot | VAR_004986 | Disease | p.PRO55LEU | Diabetes insipidus, neurohypophyseal (NDI) |
Swiss-Prot | VAR_011894 | Polymorphism | p.PRO82LEU | N/A |
Swiss-Prot | VAR_004980 | Disease | p.SER17PHE | Diabetes insipidus, neurohypophyseal (NDI) |
Swiss-Prot | VAR_015269 | Disease | p.SER87PHE | Diabetes insipidus, neurohypophyseal (NDI) |
Swiss-Prot | VAR_015262 | Disease | p.TYR21HIS | Diabetes insipidus, neurohypophyseal (NDI) |
Swiss-Prot | VAR_019273 | Disease | p.VAL67ALA | Diabetes insipidus, neurohypophyseal (NDI) |
OMIM | 192340.0017 | Disease | p.CYS116GLY | DIABETES INSIPIDUS, NEUROHYPOPHYSEAL |
OMIM | 192340.0005 | Disease | p.CYS67TER | DIABETES INSIPIDUS, NEUROHYPOPHYSEAL |
OMIM | 192340.0015 | Disease | p.CYS61TYR | DIABETES INSIPIDUS, NEUROHYPOPHYSEAL |
OMIM | 192340.0012 | Disease | p.GLU82TER | DIABETES INSIPIDUS, NEUROHYPOPHYSEAL |
OMIM | 192340.0011 | Disease | p.GLY23ARG | DIABETES INSIPIDUS, NEUROHYPOPHYSEAL |
OMIM | 192340.0001 | Disease | p.GLY57SER | DIABETES INSIPIDUS, NEUROHYPOPHYSEAL |
OMIM | 192340.0006 | Disease | p.GLY62TRP | DIABETES INSIPIDUS, NEUROHYPOPHYSEAL |
OMIM | 192340.0002 | Disease | p.GLY17VAL | DIABETES INSIPIDUS, NEUROHYPOPHYSEAL |
OMIM | 192340.0010 | Disease | p.GLY23VAL | DIABETES INSIPIDUS, NEUROHYPOPHYSEAL |
OMIM | 192340.0008 | Disease | p.GLY65VAL | DIABETES INSIPIDUS, NEUROHYPOPHYSEAL |
OMIM | 192340.0016 | Disease | p.PRO7LEU | DIABETES INSIPIDUS, NEUROHYPOPHYSEAL, AUTOSOMAL RECESSIVE |
OMIM | 192340.0014 | Disease | p.SER56PHE | DIABETES INSIPIDUS, NEUROHYPOPHYSEAL |
OMIM | 192340.0018 | Disease | p.TYR2HIS | DIABETES INSIPIDUS, NEUROHYPOPHYSEAL |
OMIM | 192340.0019 | Disease | p.VAL67ALA | DIABETES INSIPIDUS, NEUROHYPOPHYSEAL |