Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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Swiss-Prot | VAR_004094 | Disease | p.ALA1075ASP | Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) |
Swiss-Prot | VAR_004096 | Disease | p.ALA1162GLU | Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) |
Swiss-Prot | VAR_058395 | Polymorphism | p.ALA2GLY | N/A |
Swiss-Prot | VAR_004095 | Disease | p.ALA1161THR | Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) |
Swiss-Prot | VAR_015923 | Disease | p.ALA1055VAL | Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) |
Swiss-Prot | VAR_015909 | Disease | p.ALA119VAL | Leprechaunism (LEPRCH) |
Swiss-Prot | VAR_015540 | Disease | p.ARG279CYS | Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) |
Swiss-Prot | VAR_004092 | Disease | p.ARG1020GLN | Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) |
Swiss-Prot | VAR_015927 | Disease | p.ARG1158GLN | Diabetes mellitus, non-insulin-dependent (NIDDM) |
Swiss-Prot | VAR_004098 | Disease | p.ARG1191GLN | Diabetes mellitus, non-insulin-dependent (NIDDM) |
Swiss-Prot | VAR_015929 | Disease | p.ARG1201GLN | Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) |
Swiss-Prot | VAR_015934 | Disease | p.ARG1378GLN | Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) |
Swiss-Prot | VAR_031519 | Disease | p.ARG279HIS | Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) |
Swiss-Prot | VAR_004082 | Disease | p.ARG113PRO | Leprechaunism (LEPRCH) |
Swiss-Prot | VAR_004090 | Disease | p.ARG762SER | Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) |
Swiss-Prot | VAR_015925 | Disease | p.ARG1119TRP | Leprechaunism (LEPRCH) |
Swiss-Prot | VAR_015928 | Disease | p.ARG1158TRP | Rabson-Mendenhall syndrome (RMS) |
Swiss-Prot | VAR_015930 | Disease | p.ARG1201TRP | Rabson-Mendenhall syndrome (RMS) |
Swiss-Prot | VAR_015919 | Disease | p.ARG926TRP | Leprechaunism (LEPRCH) |
Swiss-Prot | VAR_031521 | Disease | p.ASN458ASP | Leprechaunism (LEPRCH) |
Swiss-Prot | VAR_004079 | Disease | p.ASN42LYS | Rabson-Mendenhall syndrome (RMS) |
Swiss-Prot | VAR_004089 | Disease | p.ASN489SER | Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) |
Swiss-Prot | VAR_015907 | Disease | p.ASP86GLY | Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) |
Swiss-Prot | VAR_041429 | Polymorphism | p.CYS228ARG | N/A |
Swiss-Prot | VAR_015911 | Disease | p.CYS280TYR | Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) |
Swiss-Prot | VAR_015912 | Disease | p.CYS301TYR | Leprechaunism (LEPRCH) |
Swiss-Prot | VAR_041430 | Polymorphism | p.GLN695ARG | N/A |
Swiss-Prot | VAR_015916 | Polymorphism | p.GLN492LYS | N/A |
Swiss-Prot | VAR_015931 | Disease | p.GLU1206ASP | Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) |
Swiss-Prot | VAR_015932 | Disease | p.GLU1206LYS | Leprechaunism (LEPRCH) |
Swiss-Prot | VAR_004086 | Disease | p.GLY393ARG | Leprechaunism (LEPRCH) |
Swiss-Prot | VAR_004081 | Disease | p.GLY58ARG | Leprechaunism (LEPRCH) |
Swiss-Prot | VAR_031520 | Disease | p.GLY386SER | Rabson-Mendenhall syndrome (RMS) |
Swiss-Prot | VAR_041431 | Polymorphism | p.GLY811SER | N/A |
Swiss-Prot | VAR_004093 | Disease | p.GLY1035VAL | Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) |
Swiss-Prot | VAR_004084 | Disease | p.HIS236ARG | Leprechaunism (LEPRCH) |
Swiss-Prot | VAR_015539 | Disease | p.ILE146MET | Leprechaunism (LEPRCH) |
Swiss-Prot | VAR_015922 | Polymorphism | p.ILE1023PHE | N/A |
Swiss-Prot | VAR_015926 | Disease | p.ILE1143THR | Rabson-Mendenhall syndrome (RMS) |
Swiss-Prot | VAR_015915 | Polymorphism | p.ILE448THR | N/A |
Swiss-Prot | VAR_015918 | Disease | p.ILE925THR | Leprechaunism (LEPRCH) |
Swiss-Prot | VAR_031518 | Disease | p.LEU120GLN | Leprechaunism (LEPRCH) |
Swiss-Prot | VAR_004085 | Disease | p.LEU260PRO | Leprechaunism (LEPRCH) |
Swiss-Prot | VAR_015908 | Disease | p.LEU89PRO | Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) |
Swiss-Prot | VAR_041432 | Polymorphism | p.LEU1065VAL | N/A |
Swiss-Prot | VAR_015924 | Polymorphism | p.LYS1095GLU | N/A |
Swiss-Prot | VAR_004088 | Disease | p.LYS487GLU | Leprechaunism (LEPRCH) |
Swiss-Prot | VAR_004097 | Polymorphism | p.MET1180ILE | N/A |
Swiss-Prot | VAR_004087 | Disease | p.PHE409VAL | Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) |
Swiss-Prot | VAR_004099 | Disease | p.PRO1205LEU | Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) |
Swiss-Prot | VAR_004083 | Polymorphism | p.PRO220LEU | N/A |
Swiss-Prot | VAR_055986 | Polymorphism | p.PRO830LEU | N/A |
Swiss-Prot | VAR_015921 | Disease | p.PRO997THR | Rabson-Mendenhall syndrome (RMS) |
Swiss-Prot | VAR_015914 | Disease | p.SER350LEU | Rabson-Mendenhall syndrome (RMS) |
Swiss-Prot | VAR_041433 | Polymorphism | p.THR1282ALA | N/A |
Swiss-Prot | VAR_015917 | Disease | p.THR858ALA | Diabetes mellitus, non-insulin-dependent (NIDDM) |
Swiss-Prot | VAR_015920 | Disease | p.THR937MET | Leprechaunism (LEPRCH) |
Swiss-Prot | VAR_004100 | Disease | p.TRP1220LEU | Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) |
Swiss-Prot | VAR_004101 | Disease | p.TRP1227SER | Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) |
Swiss-Prot | VAR_015542 | Disease | p.TRP439SER | Leprechaunism (LEPRCH) |
Swiss-Prot | VAR_015933 | Polymorphism | p.TYR1361CYS | N/A |
Swiss-Prot | VAR_058396 | Polymorphism | p.TYR171HIS | N/A |
Swiss-Prot | VAR_004080 | Disease | p.VAL55ALA | Leprechaunism (LEPRCH) |
Swiss-Prot | VAR_015910 | Disease | p.VAL167LEU | Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) |
Swiss-Prot | VAR_004091 | Polymorphism | p.VAL1012MET | N/A |
OMIM | 147670.0026 | Disease | p.ALA1135GLU | DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS |
OMIM | 147670.0008 | Disease | p.ALA1134THR | DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE, INCLUDED |
OMIM | 147670.0021 | Disease | p.ARG1152GLN | DIABETES MELLITUS, NONINSULIN-DEPENDENT |
OMIM | 147670.0030 147670.0037 | Disease | p.ARG1174GLN | HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5 |
OMIM | 147670.0018 | Disease | p.ARG981GLN | DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS |
OMIM | 147670.0025 | Disease | p.ARG86PRO | DONOHUE SYNDROME |
OMIM | 147670.0004 | Disease | p.ARG735SER | DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS |
OMIM | 147670.0013 | Disease | p.ARG1000TER | RABSON-MENDENHALL SYNDROME |
OMIM | 147670.0022 | Disease | p.ARG372TER | DONOHUE SYNDROME |
OMIM | 147670.0019 | Disease | p.ARG988TER | DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS |
OMIM | 147670.0036 | Disease | p.ASN431ASP | DONOHUE SYNDROME |
OMIM | 147670.0012 | Disease | p.ASN15LYS | RABSON-MENDENHALL SYNDROME |
OMIM | 147670.0016 | Disease | p.ASN462SER | DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS |
OMIM | 147670.0003 | Disease | p.GLU672TER | DONOHUE SYNDROME |
OMIM | 147670.0020 | Disease | p.GLY31ARG | DONOHUE SYNDROME |
OMIM | 147670.0024 | Disease | p.GLY366ARG | DONOHUE SYNDROME |
OMIM | 147670.0001 | Disease | p.GLY996VAL | DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS |
OMIM | 147670.0014 | Disease | p.HIS209ARG | DONOHUE SYNDROME |
OMIM | 147670.0033 | Disease | p.ILE119MET | DONOHUE SYNDROME |
OMIM | 147670.0010 | Disease | p.LEU233PRO | DONOHUE SYNDROME |
OMIM | 147670.0002 | Disease | p.LYS460GLU | DONOHUE SYNDROME |
OMIM | 147670.0027 | Disease | p.LYS121TER | DONOHUE SYNDROME |
OMIM | 147670.0031 | Disease | p.MET1153ILE | INSULIN RESISTANCE |
OMIM | 147670.0011 | Disease | p.PHE382VAL | DIABETES MELLITUS, INSULIN-RESISTANT |
OMIM | 147670.0009 | Disease | p.TRP1200SER | DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS |
OMIM | 147670.0032 | Disease | p.TRP412SER | DONOHUE SYNDROME |
OMIM | 147670.0015 | Disease | p.TRP133TER | DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS |
OMIM | 147670.0023 | Disease | p.VAL28ALA | DONOHUE SYNDROME |
OMIM | 147670.0029 | Disease | p.VAL985MET | DIABETES MELLITUS, NONINSULIN-DEPENDENT |