Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
---|
dbSNP | rs35504556 | Polymorphism | p.ALA1419GLY | N/A |
Swiss-Prot | VAR_022734 | Disease | p.ALA39GLY | Periventricular nodular heterotopia 4 (PVNH4) |
Swiss-Prot | VAR_015718 | Disease | p.ALA273PRO | Otopalatodigital syndrome 2 (OPD2) |
Swiss-Prot | VAR_015717 | Disease | p.ALA200SER | Otopalatodigital syndrome 2 (OPD2) |
Swiss-Prot | VAR_015703 | Disease | p.ALA1188THR | Melnick-Needles syndrome (MNS) |
Swiss-Prot | VAR_012835 | Polymorphism | p.ALA1764THR | N/A |
Swiss-Prot | VAR_031306 | Disease | p.ALA128VAL | Periventricular nodular heterotopia 4 (PVNH4) |
Swiss-Prot | VAR_015715 | Disease | p.ARG196GLY | Otopalatodigital syndrome 2 (OPD2) |
Swiss-Prot | VAR_015716 | Disease | p.ARG196TRP | Otopalatodigital syndrome 1 (OPD1) |
Swiss-Prot | VAR_015702 | Disease | p.ASP1159ALA | Frontometaphyseal dysplasia (FMD) |
Swiss-Prot | VAR_015720 | Disease | p.ASP1184GLU | Melnick-Needles syndrome (MNS) |
Swiss-Prot | VAR_031308 | Disease | p.ASP203TYR | Otopalatodigital syndrome 1 (OPD1) |
Swiss-Prot | VAR_015723 | Disease | p.CYS1645PHE | Otopalatodigital syndrome 2 (OPD2) |
Swiss-Prot | VAR_058720 | Disease | p.CYS210PHE | Otopalatodigital syndrome 2 (OPD2) |
Swiss-Prot | VAR_015713 | Disease | p.GLN170PRO | Otopalatodigital syndrome 2 (OPD2) |
Swiss-Prot | VAR_067251 | Polymorphism | p.GLU1803LYS | N/A |
Swiss-Prot | VAR_015701 | Disease | p.GLU254LYS | Otopalatodigital syndrome 2 (OPD2) |
Swiss-Prot | VAR_015699 | Disease | p.GLU82VAL | Periventricular nodular heterotopia 1 (PVNH1) |
Swiss-Prot | VAR_064156 | Disease | p.GLY288ARG | Cardiac valvular dysplasia X-linked (CVDX) |
Swiss-Prot | VAR_031312 | Disease | p.GLY1728CYS | Frontometaphyseal dysplasia (FMD) |
Swiss-Prot | VAR_015714 | Disease | p.LEU172PHE | Otopalatodigital syndrome 1 (OPD1) |
Swiss-Prot | VAR_012834 | Disease | p.LEU656PHE | Periventricular nodular heterotopia 1 (PVNH1) |
Swiss-Prot | VAR_031305 | Disease | p.MET102VAL | Periventricular nodular heterotopia 1 (PVNH1) |
Swiss-Prot | VAR_012832 | Polymorphism | p.PHE370LEU | N/A |
Swiss-Prot | VAR_064157 | Disease | p.PRO637GLN | Cardiac valvular dysplasia X-linked (CVDX) |
Swiss-Prot | VAR_058721 | Disease | p.PRO1291LEU | FG syndrome 2 (FGS2) |
Swiss-Prot | VAR_015700 | Disease | p.PRO207LEU | Otopalatodigital syndrome 1 (OPD1) |
dbSNP | rs17091204 | Polymorphism | p.SER1012LEU | N/A |
Swiss-Prot | VAR_015721 | Disease | p.SER1186LEU | Frontometaphyseal dysplasia (FMD) |
Swiss-Prot | VAR_015704 | Disease | p.SER1199LEU | Melnick-Needles syndrome (MNS) |
Swiss-Prot | VAR_031307 | Disease | p.SER149PHE | Periventricular nodular heterotopia 1 (PVNH1) |
Swiss-Prot | VAR_015719 | Disease | p.THR555LYS | Otopalatodigital syndrome 2 (OPD2) |
Swiss-Prot | VAR_069803 | Polymorphism | p.THR429MET | N/A |
Swiss-Prot | VAR_012831 | Polymorphism | p.VAL320ALA | N/A |
Swiss-Prot | VAR_012833 | Polymorphism | p.VAL552ALA | N/A |
Swiss-Prot | VAR_064158 | Disease | p.VAL711ASP | Cardiac valvular dysplasia X-linked (CVDX) |
Swiss-Prot | VAR_031309 | Disease | p.VAL528MET | Periventricular nodular heterotopia 1 (PVNH1) |
OMIM | 300017.0019 | Disease | p.ALA39GLY | HETEROTOPIA, PERIVENTRICULAR, EHLERS-DANLOS VARIANT |
OMIM | 300017.0012 | Disease | p.ALA1188THR | MELNICK-NEEDLES SYNDROME |
OMIM | 300017.0021 | Disease | p.ALA128VAL | HETEROTOPIA, PERIVENTRICULAR, EHLERS-DANLOS VARIANT |
OMIM | 300017.0026 | Disease | p.ARG196TRP | OTOPALATODIGITAL SYNDROME, TYPE I||OTOPALATODIGITAL SYNDROME, TYPE II, INCLUDED |
OMIM | 300017.0011 | Disease | p.ASP1159ALA | FRONTOMETAPHYSEAL DYSPLASIA |
OMIM | 300017.0020 | Disease | p.ASP203TYR | OTOPALATODIGITAL SYNDROME, TYPE I |
OMIM | 300017.0027 | Disease | p.CYS210PHE | OTOPALATODIGITAL SYNDROME, TYPE II |
OMIM | 300017.0001 | Disease | p.GLN182TER | HETEROTOPIA, PERIVENTRICULAR NODULAR, X-LINKED DOMINANT |
OMIM | 300017.0010 | Disease | p.GLU254LYS | OTOPALATODIGITAL SYNDROME, TYPE II |
OMIM | 300017.0008 | Disease | p.GLU82VAL | HETEROTOPIA, PERIVENTRICULAR NODULAR, X-LINKED DOMINANT |
OMIM | 300017.0031 | Disease | p.GLY288ARG | CARDIAC VALVULAR DYSPLASIA, X-LINKED |
OMIM | 300017.0022 | Disease | p.GLY1728CYS | OTOPALATODIGITAL SPECTRUM DISORDER |
OMIM | 300017.0006 | Disease | p.LEU656PHE | HETEROTOPIA, PERIVENTRICULAR NODULAR, X-LINKED DOMINANT |
OMIM | 300017.0030 | Disease | p.PRO637GLN | CARDIAC VALVULAR DYSPLASIA, X-LINKED |
OMIM | 300017.0028 | Disease | p.PRO1291LEU | FG SYNDROME 2 |
OMIM | 300017.0009 | Disease | p.PRO207LEU | OTOPALATODIGITAL SYNDROME, TYPE I |
OMIM | 300017.0015 | Disease | p.SER1186LEU | FRONTOMETAPHYSEAL DYSPLASIA |
OMIM | 300017.0013 | Disease | p.SER1199LEU | MELNICK-NEEDLES SYNDROME |
OMIM | 300017.0034 | Disease | p.TRP2632TER | HETEROTOPIA, PERIVENTRICULAR NODULAR, X-LINKED DOMINANT |
OMIM | 300017.0032 | Disease | p.VAL711ASP | CARDIAC VALVULAR DYSPLASIA, X-LINKED |