Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
---|
Swiss-Prot | VAR_000824 | Polymorphism | p.ARG418CYS | N/A |
Swiss-Prot | VAR_029041 | Polymorphism | p.ARG351HIS | N/A |
Swiss-Prot | VAR_000818 | Disease | p.ASN220TYR | Neurofibromatosis 2 (NF2) |
Swiss-Prot | VAR_065227 | Disease | p.CYS133ARG | Neurofibromatosis 2 (NF2) |
Swiss-Prot | VAR_048358 | Polymorphism | p.GLN344HIS | N/A |
Swiss-Prot | VAR_000826 | Disease | p.GLN538PRO | Neurofibromatosis 2 (NF2) |
Swiss-Prot | VAR_000813 | Disease | p.GLU106GLY | Neurofibromatosis 2 (NF2) |
Swiss-Prot | VAR_035848 | Polymorphism | p.GLU463LYS | N/A |
Swiss-Prot | VAR_043013 | Disease | p.GLY197CYS | Neurofibromatosis 2 (NF2) |
Swiss-Prot | VAR_000819 | Polymorphism | p.ILE273PHE | N/A |
Swiss-Prot | VAR_009123 | Disease | p.LEU234ARG | Neurofibromatosis 2 (NF2) |
Swiss-Prot | VAR_000809 | Polymorphism | p.LEU46ARG | N/A |
Swiss-Prot | VAR_043016 | Disease | p.LEU539HIS | Neurofibromatosis 2 (NF2) |
Swiss-Prot | VAR_000814 | Polymorphism | p.LEU117ILE | N/A |
Swiss-Prot | VAR_000820 | Polymorphism | p.LEU339PHE | N/A |
Swiss-Prot | VAR_043012 | Disease | p.LEU141PRO | Neurofibromatosis 2 (NF2) |
Swiss-Prot | VAR_000822 | Disease | p.LEU360PRO | Neurofibromatosis 2 (NF2) |
Swiss-Prot | VAR_000825 | Disease | p.LEU535PRO | Neurofibromatosis 2 (NF2) |
Swiss-Prot | VAR_043014 | Disease | p.LYS413GLU | Neurofibromatosis 2 (NF2) |
Swiss-Prot | VAR_000811 | Polymorphism | p.LYS79GLU | N/A |
Swiss-Prot | VAR_000823 | Polymorphism | p.LYS364ILE | N/A |
Swiss-Prot | VAR_043017 | Disease | p.LYS579MET | Neurofibromatosis 2 (NF2) |
Swiss-Prot | VAR_043015 | Disease | p.LYS533THR | Neurofibromatosis 2 (NF2) |
Swiss-Prot | VAR_043011 | Disease | p.MET77VAL | Neurofibromatosis 2 (NF2) |
Swiss-Prot | VAR_000810 | Disease | p.PHE62SER | Neurofibromatosis 2 (NF2) |
Swiss-Prot | VAR_000821 | Disease | p.THR352MET | Neurofibromatosis 2 (NF2) |
Swiss-Prot | VAR_000817 | Polymorphism | p.VAL219MET | N/A |
OMIM | 607379.0009 | Disease | p.ARG262TER | NEUROFIBROMATOSIS, TYPE II |
OMIM | 607379.0011 | Disease | p.ARG341TER | NEUROFIBROMATOSIS, TYPE II |
OMIM | 607379.0014 | Disease | p.ARG466TER | NEUROFIBROMATOSIS, TYPE II |
OMIM | 607379.0004 | Disease | p.ARG57TER | MENINGIOMA, SOMATIC |
OMIM | 607379.0006 | Disease | p.GLN538PRO | NEUROFIBROMATOSIS, TYPE II |
OMIM | 607379.0010 | Disease | p.GLN320TER | NEUROFIBROMATOSIS, TYPE II |
OMIM | 607379.0012 | Disease | p.GLN407TER | NEUROFIBROMATOSIS, TYPE II |
OMIM | 607379.0008 | Disease | p.GLU182TER | NEUROFIBROMATOSIS, TYPE II |
OMIM | 607379.0013 | Disease | p.GLU463TER | NEUROFIBROMATOSIS, TYPE II |
OMIM | 607379.0015 | Disease | p.GLU527TER | NEUROFIBROMATOSIS, TYPE II |
OMIM | 607379.0001 | Disease | p.LEU360PRO | NEUROFIBROMATOSIS, TYPE II |
OMIM | 607379.0005 | Disease | p.LEU535PRO | NEUROFIBROMATOSIS, TYPE II |
OMIM | 607379.0016 | Disease | p.PHE62SER | NEUROFIBROMATOSIS, TYPE II |