Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
---|
Swiss-Prot | VAR_068204 | Disease | p.ALA1188PRO | Nicolaides-Baraitser syndrome (NCBRS) |
Swiss-Prot | VAR_068205 | Disease | p.ALA1201VAL | Nicolaides-Baraitser syndrome (NCBRS) |
Swiss-Prot | VAR_068195 | Disease | p.ARG1105CYS | Nicolaides-Baraitser syndrome (NCBRS) |
Swiss-Prot | VAR_068202 | Disease | p.ARG1159GLN | Nicolaides-Baraitser syndrome (NCBRS) |
Swiss-Prot | VAR_068200 | Disease | p.ARG1159GLY | Nicolaides-Baraitser syndrome (NCBRS) |
Swiss-Prot | VAR_068188 | Disease | p.ARG855GLY | Nicolaides-Baraitser syndrome (NCBRS) |
Swiss-Prot | VAR_068203 | Disease | p.ARG1162HIS | Nicolaides-Baraitser syndrome (NCBRS) |
Swiss-Prot | VAR_068201 | Disease | p.ARG1159LEU | Nicolaides-Baraitser syndrome (NCBRS) |
Swiss-Prot | VAR_068196 | Disease | p.ARG1105PRO | Nicolaides-Baraitser syndrome (NCBRS) |
Swiss-Prot | VAR_068208 | Disease | p.ARG1213TRP | Nicolaides-Baraitser syndrome (NCBRS) |
dbSNP | rs2296212 | Polymorphism | p.ASP1546GLU | N/A |
Swiss-Prot | VAR_068207 | Disease | p.ASP1205GLY | Nicolaides-Baraitser syndrome (NCBRS) |
Swiss-Prot | VAR_068183 | Disease | p.ASP851HIS | Nicolaides-Baraitser syndrome (NCBRS) |
Swiss-Prot | VAR_068199 | Disease | p.ASP1158VAL | Nicolaides-Baraitser syndrome (NCBRS) |
Swiss-Prot | VAR_068184 | Disease | p.GLU852ASP | Nicolaides-Baraitser syndrome (NCBRS) |
Swiss-Prot | VAR_068185 | Disease | p.GLU852LYS | Nicolaides-Baraitser syndrome (NCBRS) |
Swiss-Prot | VAR_049501 | Polymorphism | p.GLY1416ALA | N/A |
Swiss-Prot | VAR_068180 | Disease | p.GLY752ALA | Nicolaides-Baraitser syndrome (NCBRS) |
Swiss-Prot | VAR_068189 | Disease | p.GLY881ARG | Nicolaides-Baraitser syndrome (NCBRS) |
Swiss-Prot | VAR_068206 | Disease | p.GLY1202CYS | Nicolaides-Baraitser syndrome (NCBRS) |
Swiss-Prot | VAR_068190 | Disease | p.GLY881VAL | Nicolaides-Baraitser syndrome (NCBRS) |
Swiss-Prot | VAR_068187 | Disease | p.HIS854ARG | Nicolaides-Baraitser syndrome (NCBRS) |
Swiss-Prot | VAR_068186 | Disease | p.HIS854ASN | Nicolaides-Baraitser syndrome (NCBRS) |
Swiss-Prot | VAR_068192 | Disease | p.HIS939TYR | Nicolaides-Baraitser syndrome (NCBRS) |
Swiss-Prot | VAR_068193 | Disease | p.LEU946PHE | Nicolaides-Baraitser syndrome (NCBRS) |
Swiss-Prot | VAR_068197 | Disease | p.LEU1135PRO | Nicolaides-Baraitser syndrome (NCBRS) |
Swiss-Prot | VAR_068194 | Disease | p.LEU946SER | Nicolaides-Baraitser syndrome (NCBRS) |
Swiss-Prot | VAR_068181 | Disease | p.LYS755ARG | Nicolaides-Baraitser syndrome (NCBRS) |
Swiss-Prot | VAR_068191 | Disease | p.PRO883LEU | Nicolaides-Baraitser syndrome (NCBRS) |
Swiss-Prot | VAR_068198 | Disease | p.SER1146ARG | Nicolaides-Baraitser syndrome (NCBRS) |
Swiss-Prot | VAR_068182 | Disease | p.THR756ILE | Nicolaides-Baraitser syndrome (NCBRS) |
OMIM | 600014.0010 | Disease | p.ALA1201VAL | NICOLAIDES-BARAITSER SYNDROME |
OMIM | 600014.0003 | Disease | p.ARG1159GLN | NICOLAIDES-BARAITSER SYNDROME |
OMIM | 600014.0005 | Disease | p.ARG1159GLY | NICOLAIDES-BARAITSER SYNDROME |
OMIM | 600014.0007 | Disease | p.ARG1162HIS | NICOLAIDES-BARAITSER SYNDROME |
OMIM | 600014.0008 | Disease | p.ARG1159LEU | NICOLAIDES-BARAITSER SYNDROME |
OMIM | 600014.0001 | Disease | p.ARG1213TRP | NICOLAIDES-BARAITSER SYNDROME |
OMIM | 600014.0004 | Disease | p.ASP1158VAL | NICOLAIDES-BARAITSER SYNDROME |
OMIM | 600014.0012 | Disease | p.GLY752ALA | NICOLAIDES-BARAITSER SYNDROME |
OMIM | 600014.0014 | Disease | p.GLY1132ASP | NICOLAIDES-BARAITSER SYNDROME |
OMIM | 600014.0002 | Disease | p.GLY1202CYS | NICOLAIDES-BARAITSER SYNDROME |
OMIM | 600014.0006 | Disease | p.GLY881VAL | NICOLAIDES-BARAITSER SYNDROME |
OMIM | 600014.0011 | Disease | p.HIS939TYR | NICOLAIDES-BARAITSER SYNDROME |
OMIM | 600014.0009 | Disease | p.PRO883LEU | NICOLAIDES-BARAITSER SYNDROME |