Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
---|
Swiss-Prot | VAR_063952 | Disease | p.ALA400GLU | Osteoporosis-pseudoglioma syndrome (OPPG) |
Swiss-Prot | VAR_063980 | Polymorphism | p.ALA1537THR | N/A |
Swiss-Prot | VAR_021810 | Disease | p.ALA214THR | Endosteal hyperostosis, Worth type (WENHY) |
Swiss-Prot | VAR_021812 | Disease | p.ALA242THR | Van Buchem disease 2 (VBCH2) |
Swiss-Prot | VAR_063941 | Polymorphism | p.ALA29THR | N/A |
Swiss-Prot | VAR_063964 | Disease | p.ALA522THR | Vitreoretinopathy, exudative 4 (EVR4) |
dbSNP | rs3736228 | Polymorphism | p.ALA1330VAL | N/A |
Swiss-Prot | VAR_021225 | Polymorphism | p.ALA1525VAL | N/A |
Swiss-Prot | VAR_021811 | Disease | p.ALA214VAL | Endosteal hyperostosis, Worth type (WENHY) |
Swiss-Prot | VAR_063942 | Polymorphism | p.ALA97VAL | N/A |
Swiss-Prot | VAR_063976 | Disease | p.ARG1113CYS | Osteoporosis-pseudoglioma syndrome (OPPG) |
Swiss-Prot | VAR_063957 | Disease | p.ARG444CYS | Vitreoretinopathy, exudative 4 (EVR4) |
Swiss-Prot | VAR_063974 | Polymorphism | p.ARG1036GLN | N/A |
Swiss-Prot | VAR_063949 | Disease | p.ARG353GLN | Osteoporosis-pseudoglioma syndrome (OPPG) |
Swiss-Prot | VAR_021814 | Disease | p.ARG494GLN | Osteoporosis-pseudoglioma syndrome (OPPG) |
Swiss-Prot | VAR_021222 | Disease | p.ARG570GLN | Vitreoretinopathy, exudative 4 (EVR4) |
Swiss-Prot | VAR_021223 | Disease | p.ARG752GLY | Vitreoretinopathy, exudative 4 (EVR4) |
Swiss-Prot | VAR_063944 | Disease | p.ARG154MET | High bone mass trait (HBM) |
Swiss-Prot | VAR_063948 | Disease | p.ARG348TRP | Osteoporosis-pseudoglioma syndrome (OPPG) |
Swiss-Prot | VAR_021815 | Disease | p.ARG570TRP | Osteoporosis-pseudoglioma syndrome (OPPG) |
Swiss-Prot | VAR_063973 | Disease | p.ARG805TRP | Vitreoretinopathy, exudative 4 (EVR4) |
Swiss-Prot | VAR_063977 | Disease | p.ASN1121ASP | Vitreoretinopathy, exudative 4 (EVR4) |
Swiss-Prot | VAR_063965 | Disease | p.ASN531ILE | Osteoporosis-pseudoglioma syndrome (OPPG) |
Swiss-Prot | VAR_063962 | Disease | p.ASP511ALA | Vitreoretinopathy, exudative 4 (EVR4) |
Swiss-Prot | VAR_063945 | Disease | p.ASP203ASN | Osteoporosis-pseudoglioma syndrome (OPPG) |
Swiss-Prot | VAR_063955 | Disease | p.ASP434ASN | Osteoporosis-pseudoglioma syndrome (OPPG) |
Swiss-Prot | VAR_063970 | Disease | p.ASP683ASN | Osteoporosis-pseudoglioma syndrome (OPPG) |
Swiss-Prot | VAR_063975 | Disease | p.ASP1099TYR | Osteoporosis-pseudoglioma syndrome (OPPG) |
Swiss-Prot | VAR_021807 | Disease | p.ASP111TYR | Osteopetrosis, autosomal dominant 1 (OPTA1) |
Swiss-Prot | VAR_018467 | Disease | p.CYS1361GLY | Vitreoretinopathy, exudative 4 (EVR4) |
Swiss-Prot | VAR_063978 | Disease | p.CYS1253PHE | Vitreoretinopathy, exudative 4 (EVR4) |
Swiss-Prot | VAR_021806 | Polymorphism | p.GLN89ARG | N/A |
Swiss-Prot | VAR_021224 | Disease | p.GLU1367LYS | Vitreoretinopathy, exudative 4 (EVR4) |
Swiss-Prot | VAR_063956 | Disease | p.GLU441LYS | Vitreoretinopathy, exudative 4 (EVR4) |
Swiss-Prot | VAR_063959 | Disease | p.GLU460LYS | Osteoporosis-pseudoglioma syndrome (OPPG) |
Swiss-Prot | VAR_021808 | Disease | p.GLY171ARG | Osteopetrosis, autosomal dominant 1 (OPTA1) |
Swiss-Prot | VAR_063953 | Disease | p.GLY404ARG | Osteoporosis-pseudoglioma syndrome (OPPG) |
Swiss-Prot | VAR_063967 | Disease | p.GLY550ARG | Vitreoretinopathy, exudative 4 (EVR4) |
Swiss-Prot | VAR_063968 | Disease | p.GLY610ARG | Vitreoretinopathy, exudative 4 (EVR4) |
Swiss-Prot | VAR_063979 | Disease | p.GLY1401ASP | Osteoporosis-pseudoglioma syndrome (OPPG) |
Swiss-Prot | VAR_021809 | Disease | p.GLY171VAL | High bone mass trait (HBM) |
Swiss-Prot | VAR_063963 | Disease | p.GLY520VAL | Osteoporosis-pseudoglioma syndrome (OPPG) |
Swiss-Prot | VAR_063943 | Disease | p.LEU145PHE | Vitreoretinopathy, exudative 4 (EVR4) |
Swiss-Prot | VAR_063412 | Disease | p.MET282VAL | High bone mass trait (HBM) |
Swiss-Prot | VAR_063969 | Disease | p.PHE617CYS | Vitreoretinopathy, exudative 4 (EVR4) |
Swiss-Prot | VAR_063950 | Disease | p.SER356LEU | Osteoporosis-pseudoglioma syndrome (OPPG) |
Swiss-Prot | VAR_063958 | Polymorphism | p.SER455LEU | N/A |
Swiss-Prot | VAR_063947 | Disease | p.SER307PHE | Osteoporosis-pseudoglioma syndrome (OPPG) |
Swiss-Prot | VAR_063954 | Disease | p.THR409ALA | Osteoporosis-pseudoglioma syndrome (OPPG) |
Swiss-Prot | VAR_063972 | Disease | p.THR798ALA | Vitreoretinopathy, exudative 4 (EVR4) |
Swiss-Prot | VAR_021813 | Disease | p.THR253ILE | Osteopetrosis, autosomal dominant 1 (OPTA1) |
Swiss-Prot | VAR_063951 | Disease | p.THR390LYS | Osteoporosis-pseudoglioma syndrome (OPPG) |
Swiss-Prot | VAR_063981 | Polymorphism | p.THR1540MET | N/A |
Swiss-Prot | VAR_018465 | Disease | p.THR173MET | Vitreoretinopathy, exudative 4 (EVR4) |
Swiss-Prot | VAR_063946 | Disease | p.THR244MET | Osteoporosis-pseudoglioma syndrome (OPPG) |
Swiss-Prot | VAR_063966 | Disease | p.THR535MET | Vitreoretinopathy, exudative 4 (EVR4) |
Swiss-Prot | VAR_063960 | Disease | p.TRP478ARG | Osteoporosis-pseudoglioma syndrome (OPPG) |
Swiss-Prot | VAR_063961 | Disease | p.TRP504CYS | Osteoporosis-pseudoglioma syndrome (OPPG) |
Swiss-Prot | VAR_018466 | Disease | p.TYR1168HIS | Vitreoretinopathy, exudative 4 (EVR4) |
Swiss-Prot | VAR_063971 | Disease | p.TYR733HIS | Osteoporosis-pseudoglioma syndrome (OPPG) |
Swiss-Prot | VAR_035208 | Polymorphism | p.VAL1204LEU | N/A |
dbSNP | rs4988321 | Polymorphism | p.VAL667MET | N/A |
OMIM | 603506.0016 | Disease | p.ALA214THR | ENDOSTEAL HYPEROSTOSIS, AUTOSOMAL DOMINANT |
OMIM | 603506.0015 | Disease | p.ALA242THR | ENDOSTEAL HYPEROSTOSIS, AUTOSOMAL DOMINANT||OSTEOPETROSIS, AUTOSOMAL DOMINANT 1, INCLUDED;;||VAN BUCHEM DISEASE, TYPE 2, |
OMIM | 603506.0017 | Disease | p.ALA214VAL | OSTEOSCLEROSIS, AUTOSOMAL DOMINANT |
OMIM | 603506.0026 | Disease | p.ARG444CYS | EXUDATIVE VITREORETINOPATHY 4, DIGENIC |
OMIM | 603506.0007 | Disease | p.ARG494GLN | OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME |
OMIM | 603506.0022 | Disease | p.ARG570GLN | EXUDATIVE VITREORETINOPATHY 4, AUTOSOMAL RECESSIVE |
OMIM | 603506.0023 | Disease | p.ARG752GLY | EXUDATIVE VITREORETINOPATHY 4, AUTOSOMAL RECESSIVE |
OMIM | 603506.0032 | Disease | p.ARG1534TER | OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME |
OMIM | 603506.0002 | Disease | p.ARG428TER | OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME |
OMIM | 603506.0008 | Disease | p.ARG570TRP | OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME |
OMIM | 603506.0004 | Disease | p.ASP718TER | OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME |
OMIM | 603506.0005 | Disease | p.GLN853TER | OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME |
OMIM | 603506.0024 | Disease | p.GLU1367LYS | EXUDATIVE VITREORETINOPATHY 4, AUTOSOMAL RECESSIVE |
OMIM | 603506.0010 | Disease | p.GLU485TER | OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME |
OMIM | 603506.0014 | Disease | p.GLY171ARG | OSTEOPETROSIS, AUTOSOMAL DOMINANT 1 |
OMIM | 603506.0027 | Disease | p.GLY610ARG | EXUDATIVE VITREORETINOPATHY 4, AUTOSOMAL RECESSIVE |
OMIM | 603506.0013 | Disease | p.GLY171VAL | HIGH BONE MASS |
OMIM | 603506.0025 | Disease | p.LEU145PHE | EXUDATIVE VITREORETINOPATHY 4, AUTOSOMAL DOMINANT||OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, INCLUDED |
OMIM | 603506.0030 | Disease | p.PRO382LEU | OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME |
OMIM | 603506.0018 | Disease | p.THR253ILE | OSTEOPETROSIS, AUTOSOMAL DOMINANT 1 |
OMIM | 603506.0031 | Disease | p.THR244MET | OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME |
OMIM | 603506.0029 | Disease | p.THR552MET | OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME |
OMIM | 603506.0001 | Disease | p.TRP10TER | OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME |
OMIM | 603506.0011 | Disease | p.TRP734TER | OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME |
OMIM | 603506.0009 | Disease | p.VAL667MET | OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME |