Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
---|
Swiss-Prot | VAR_003208 | Disease | p.ARG178CYS | GM2-gangliosidosis 1 (GM2G1) |
Swiss-Prot | VAR_003243 | Disease | p.ARG499CYS | GM2-gangliosidosis 1 (GM2G1) |
Swiss-Prot | VAR_003245 | Disease | p.ARG504CYS | GM2-gangliosidosis 1 (GM2G1) |
Swiss-Prot | VAR_003206 | Disease | p.ARG170GLN | GM2-gangliosidosis 1 (GM2G1) |
Swiss-Prot | VAR_003205 | Disease | p.ARG166GLY | GM2-gangliosidosis 1 (GM2G1) |
Swiss-Prot | VAR_003209 | Disease | p.ARG178HIS | GM2-gangliosidosis 1 (GM2G1) |
Swiss-Prot | VAR_003223 | Disease | p.ARG252HIS | GM2-gangliosidosis 1 (GM2G1) |
Swiss-Prot | VAR_003244 | Disease | p.ARG499HIS | GM2-gangliosidosis 1 (GM2G1) |
Swiss-Prot | VAR_003246 | Disease | p.ARG504HIS | GM2-gangliosidosis 1 (GM2G1) |
Swiss-Prot | VAR_003210 | Disease | p.ARG178LEU | GM2-gangliosidosis 1 (GM2G1) |
Swiss-Prot | VAR_017188 | Disease | p.ARG252LEU | GM2-gangliosidosis 1 (GM2G1) |
Swiss-Prot | VAR_003207 | Disease | p.ARG170TRP | GM2-gangliosidosis 1 (GM2G1) |
Swiss-Prot | VAR_003219 | Polymorphism | p.ARG247TRP | N/A |
Swiss-Prot | VAR_003220 | Polymorphism | p.ARG249TRP | N/A |
dbSNP | rs1800430 | Polymorphism | p.ASN399ASP | N/A |
Swiss-Prot | VAR_003213 | Disease | p.ASN196SER | GM2-gangliosidosis 1 (GM2G1) |
Swiss-Prot | VAR_017189 | Disease | p.ASN295SER | GM2-gangliosidosis 1 (GM2G1) |
Swiss-Prot | VAR_003224 | Disease | p.ASP258HIS | GM2-gangliosidosis 1 (GM2G1) |
Swiss-Prot | VAR_022442 | Disease | p.ASP314VAL | GM2-gangliosidosis 1 (GM2G1) |
Swiss-Prot | VAR_003238 | Disease | p.CYS458TYR | GM2-gangliosidosis 1 (GM2G1) |
dbSNP | rs4777502 | Polymorphism | p.GLU506ASP | N/A |
Swiss-Prot | VAR_003240 | Disease | p.GLU482LYS | GM2-gangliosidosis 1 (GM2G1) |
Swiss-Prot | VAR_003237 | Disease | p.GLY455ARG | GM2-gangliosidosis 1 (GM2G1) |
Swiss-Prot | VAR_003221 | Disease | p.GLY250ASP | GM2-gangliosidosis 1 (GM2G1) |
Swiss-Prot | VAR_022441 | Disease | p.GLY269ASP | GM2-gangliosidosis 1 (GM2G1) |
Swiss-Prot | VAR_003222 | Disease | p.GLY250SER | GM2-gangliosidosis 1 (GM2G1) |
Swiss-Prot | VAR_003225 | Disease | p.GLY269SER | GM2-gangliosidosis 1 (GM2G1) |
Swiss-Prot | VAR_003236 | Disease | p.GLY454SER | GM2-gangliosidosis 1 (GM2G1) |
Swiss-Prot | VAR_003216 | Disease | p.HIS204ARG | GM2-gangliosidosis 1 (GM2G1) |
Swiss-Prot | VAR_003230 | Disease | p.ILE335PHE | GM2-gangliosidosis 1 (GM2G1) |
dbSNP | rs1800431 | Polymorphism | p.ILE436VAL | N/A |
Swiss-Prot | VAR_003204 | Disease | p.LEU127ARG | GM2-gangliosidosis 1 (GM2G1) |
Swiss-Prot | VAR_003203 | Disease | p.LEU39ARG | GM2-gangliosidosis 1 (GM2G1) |
Swiss-Prot | VAR_003241 | Disease | p.LEU484GLN | GM2-gangliosidosis 1 (GM2G1) |
Swiss-Prot | VAR_022439 | Disease | p.LEU127PHE | GM2-gangliosidosis 1 (GM2G1) |
Swiss-Prot | VAR_003214 | Disease | p.LYS197THR | GM2-gangliosidosis 1 (GM2G1) |
Swiss-Prot | VAR_003227 | Disease | p.MET301ARG | GM2-gangliosidosis 1 (GM2G1) |
Swiss-Prot | VAR_003218 | Disease | p.PHE211SER | GM2-gangliosidosis 1 (GM2G1) |
Swiss-Prot | VAR_003202 | Disease | p.PRO25SER | GM2-gangliosidosis 1 (GM2G1) |
Swiss-Prot | VAR_058477 | Polymorphism | p.SER293ILE | N/A |
Swiss-Prot | VAR_003217 | Disease | p.SER210PHE | GM2-gangliosidosis 1 (GM2G1) |
Swiss-Prot | VAR_022440 | Disease | p.SER226PHE | GM2-gangliosidosis 1 (GM2G1) |
Swiss-Prot | VAR_003226 | Disease | p.SER279PRO | GM2-gangliosidosis 1 (GM2G1) |
Swiss-Prot | VAR_003242 | Disease | p.TRP485ARG | GM2-gangliosidosis 1 (GM2G1) |
Swiss-Prot | VAR_003234 | Disease | p.TRP420CYS | GM2-gangliosidosis 1 (GM2G1) |
Swiss-Prot | VAR_003239 | Disease | p.TRP474CYS | GM2-gangliosidosis 1 (GM2G1) |
Swiss-Prot | VAR_003211 | Disease | p.TYR180HIS | GM2-gangliosidosis 1 (GM2G1) |
Swiss-Prot | VAR_003212 | Disease | p.VAL192LEU | GM2-gangliosidosis 1 (GM2G1) |
Swiss-Prot | VAR_003215 | Disease | p.VAL200MET | GM2-gangliosidosis 1 (GM2G1) |
Swiss-Prot | VAR_003232 | Disease | p.VAL391MET | GM2-gangliosidosis 1 (GM2G1) |
OMIM | 606869.0007 | Disease | p.ARG178CYS | TAY-SACHS DISEASE, B1 VARIANT||HEXA, CZECHOSLOVAKIAN ALLELE |
OMIM | 606869.0028 | Disease | p.ARG499CYS | GM2-GANGLIOSIDOSIS, ADULT-ONSET |
OMIM | 606869.0015 | Disease | p.ARG504CYS | GM2-GANGLIOSIDOSIS, CHRONIC |
OMIM | 606869.0011 | Disease | p.ARG170GLN | TAY-SACHS DISEASE |
OMIM | 606869.0006 | Disease | p.ARG178HIS | TAY-SACHS DISEASE, B1 VARIANT||HEXA, DN ALLELE |
OMIM | 606869.0010 | Disease | p.ARG499HIS | GM2-GANGLIOSIDOSIS, JUVENILE |
OMIM | 606869.0009 | Disease | p.ARG504HIS | GM2-GANGLIOSIDOSIS, JUVENILE |
OMIM | 606869.0024 | Disease | p.ARG178LEU | TAY-SACHS DISEASE |
OMIM | 606869.0019 | Disease | p.ARG137TER | TAY-SACHS DISEASE |
OMIM | 606869.0020 | Disease | p.ARG393TER | TAY-SACHS DISEASE |
OMIM | 606869.0039 | Disease | p.ARG170TRP | TAY-SACHS DISEASE |
OMIM | 606869.0035 | Disease | p.ARG247TRP | BETA-HEXOSAMINIDASE A, PSEUDODEFICIENCY OF |
OMIM | 606869.0038 | Disease | p.ASP258HIS | TAY-SACHS DISEASE, B1 VARIANT |
OMIM | 606869.0058 | Disease | p.CYS58TYR | TAY SACHS DISEASE, MILD |
OMIM | 606869.0004 | Disease | p.GLU482LYS | TAY-SACHS DISEASE |
OMIM | 606869.0013 | Disease | p.GLY250ASP | TAY-SACHS DISEASE, JUVENILE |
OMIM | 606869.0008 | Disease | p.GLY269SER | GM2-GANGLIOSIDOSIS, ADULT |
OMIM | 606869.0048 | Disease | p.GLY454SER | TAY-SACHS DISEASE |
OMIM | 606869.0045 | Disease | p.HIS204ARG | TAY-SACHS DISEASE |
OMIM | 606869.0044 | Disease | p.LEU127ARG | TAY-SACHS DISEASE |
OMIM | 606869.0049 | Disease | p.LEU39ARG | TAY-SACHS DISEASE |
OMIM | 606869.0056 | Disease | p.LEU451VAL | TAY-SACHS DISEASE |
OMIM | 606869.0041 | Disease | p.LYS197THR | GM2-GANGLIOSIDOSIS, LATE ONSET |
OMIM | 606869.0047 | Disease | p.MET301ARG | TAY-SACHS DISEASE |
OMIM | 606869.0043 | Disease | p.PHE211SER | TAY-SACHS DISEASE |
OMIM | 606869.0017 | Disease | p.SER210PHE | TAY-SACHS DISEASE |
OMIM | 606869.0030 | Disease | p.TRP485ARG | TAY-SACHS DISEASE |
OMIM | 606869.0012 | Disease | p.TRP420CYS | TAY-SACHS DISEASE |
OMIM | 606869.0055 | Disease | p.TRP474CYS | GM2-GANGLIOSIDOSIS, SUBACUTE |
OMIM | 606869.0023 | Disease | p.TRP26TER | TAY-SACHS DISEASE |
OMIM | 606869.0029 | Disease | p.TRP329TER | GM2-GANGLIOSIDOSIS, B1 VARIANT |
OMIM | 606869.0050 | Disease | p.TRP392TER | TAY-SACHS DISEASE |
OMIM | 606869.0053 | Disease | p.TYR180HIS | GM2-GANGLIOSIDOSIS, LATE ONSET |
OMIM | 606869.0032 | Disease | p.TYR180TER | TAY-SACHS DISEASE |
OMIM | 606869.0036 | Disease | p.VAL192LEU | TAY-SACHS DISEASE, B1 VARIANT |
OMIM | 606869.0036 | Disease | p.VAL200MET | TAY-SACHS DISEASE, B1 VARIANT |
OMIM | 606869.0057 | Disease | p.VAL324VAL | GM2-GANGLIOSIDOSIS, SUBACUTE |