Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
---|
Swiss-Prot | VAR_034993 | Disease | p.ALA122ILE | Pheochromocytoma (PCC) |
Swiss-Prot | VAR_005740 | Disease | p.ALA149THR | Von Hippel-Lindau disease (VHLD) |
Swiss-Prot | VAR_005751 | Disease | p.ARG161GLN | Von Hippel-Lindau disease (VHLD) |
Swiss-Prot | VAR_005761 | Disease | p.ARG167GLN | Von Hippel-Lindau disease (VHLD) |
Swiss-Prot | VAR_034991 | Disease | p.ARG107GLY | Pheochromocytoma (PCC) |
Swiss-Prot | VAR_005753 | Disease | p.ARG161GLY | Von Hippel-Lindau disease (VHLD) |
Swiss-Prot | VAR_005760 | Disease | p.ARG167GLY | Von Hippel-Lindau disease (VHLD) |
Swiss-Prot | VAR_005713 | Disease | p.ARG107PRO | Von Hippel-Lindau disease (VHLD) |
Swiss-Prot | VAR_005752 | Disease | p.ARG161PRO | Von Hippel-Lindau disease (VHLD) |
Swiss-Prot | VAR_034988 | Disease | p.ARG64PRO | Pheochromocytoma (PCC) |
Swiss-Prot | VAR_005685 | Disease | p.ARG79PRO | Von Hippel-Lindau disease (VHLD) |
Swiss-Prot | VAR_005690 | Disease | p.ARG82PRO | Von Hippel-Lindau disease (VHLD) |
Swiss-Prot | VAR_005762 | Disease | p.ARG167TRP | Von Hippel-Lindau disease (VHLD) |
Swiss-Prot | VAR_008104 | Disease | p.ARG176TRP | Von Hippel-Lindau disease (VHLD) |
Swiss-Prot | VAR_005779 | Disease | p.ARG200TRP | Von Hippel-Lindau disease (VHLD) |
Swiss-Prot | VAR_005682 | Disease | p.ASN78HIS | Von Hippel-Lindau disease (VHLD) |
Swiss-Prot | VAR_005734 | Disease | p.ASN131LYS | Von Hippel-Lindau disease (VHLD) |
Swiss-Prot | VAR_005683 | Disease | p.ASN78SER | Von Hippel-Lindau disease (VHLD) |
Swiss-Prot | VAR_005735 | Disease | p.ASN131THR | Von Hippel-Lindau disease (VHLD) |
Swiss-Prot | VAR_005684 | Disease | p.ASN78THR | Von Hippel-Lindau disease (VHLD) |
Swiss-Prot | VAR_005738 | Disease | p.ASP143GLU | Von Hippel-Lindau disease (VHLD) |
Swiss-Prot | VAR_005730 | Disease | p.ASP121GLY | Von Hippel-Lindau disease (VHLD) |
Swiss-Prot | VAR_034994 | Disease | p.ASP126TYR | Erythrocytosis, familial, 2 (ECYT2) |
Swiss-Prot | VAR_005755 | Disease | p.CYS162ARG | Von Hippel-Lindau disease (VHLD) |
Swiss-Prot | VAR_005754 | Disease | p.CYS162PHE | Von Hippel-Lindau disease (VHLD) |
Swiss-Prot | VAR_005756 | Disease | p.CYS162TRP | Von Hippel-Lindau disease (VHLD) |
Swiss-Prot | VAR_005757 | Disease | p.CYS162TYR | Von Hippel-Lindau disease (VHLD) |
Swiss-Prot | VAR_005758 | Disease | p.GLN164ARG | Von Hippel-Lindau disease (VHLD) |
Swiss-Prot | VAR_008100 | Disease | p.GLN145HIS | Von Hippel-Lindau disease (VHLD) |
Swiss-Prot | VAR_008102 | Disease | p.GLN164HIS | Von Hippel-Lindau disease (VHLD) |
Swiss-Prot | VAR_005706 | Disease | p.GLN96PRO | Von Hippel-Lindau disease (VHLD) |
Swiss-Prot | VAR_005773 | Disease | p.GLU186LYS | Von Hippel-Lindau disease (VHLD) |
Swiss-Prot | VAR_005671 | Disease | p.GLU52LYS | Von Hippel-Lindau disease (VHLD) |
Swiss-Prot | VAR_005676 | Disease | p.GLU70LYS | Von Hippel-Lindau disease (VHLD) |
Swiss-Prot | VAR_005710 | Polymorphism | p.GLY104ALA | N/A |
Swiss-Prot | VAR_005719 | Disease | p.GLY114ARG | Von Hippel-Lindau disease (VHLD) |
Swiss-Prot | VAR_005712 | Polymorphism | p.GLY106ASP | N/A |
Swiss-Prot | VAR_005704 | Disease | p.GLY93ASP | Von Hippel-Lindau disease (VHLD) |
Swiss-Prot | VAR_005718 | Disease | p.GLY114CYS | Von Hippel-Lindau disease (VHLD) |
Swiss-Prot | VAR_005703 | Disease | p.GLY93CYS | Von Hippel-Lindau disease (VHLD) |
Swiss-Prot | VAR_005720 | Disease | p.GLY114SER | Von Hippel-Lindau disease (VHLD) |
Swiss-Prot | VAR_005705 | Disease | p.GLY93SER | Von Hippel-Lindau disease (VHLD) |
Swiss-Prot | VAR_008098 | Disease | p.HIS115ARG | Von Hippel-Lindau disease (VHLD) |
Swiss-Prot | VAR_034999 | Disease | p.HIS191ASP | Erythrocytosis, familial, 2 (ECYT2) |
Swiss-Prot | VAR_005723 | Disease | p.HIS115GLN | Von Hippel-Lindau disease (VHLD) |
Swiss-Prot | VAR_055087 | Polymorphism | p.HIS110TYR | N/A |
Swiss-Prot | VAR_005722 | Disease | p.HIS115TYR | Von Hippel-Lindau disease (VHLD) |
Swiss-Prot | VAR_034996 | Disease | p.ILE147THR | Pheochromocytoma (PCC) |
Swiss-Prot | VAR_005770 | Disease | p.ILE180VAL | Von Hippel-Lindau disease (VHLD) |
Swiss-Prot | VAR_005709 | Disease | p.LEU101ARG | Von Hippel-Lindau disease (VHLD) |
Swiss-Prot | VAR_005727 | Disease | p.LEU118ARG | Von Hippel-Lindau disease (VHLD) |
Swiss-Prot | VAR_005771 | Disease | p.LEU184ARG | Von Hippel-Lindau disease (VHLD) |
Swiss-Prot | VAR_005778 | Disease | p.LEU198ARG | Von Hippel-Lindau disease (VHLD) |
Swiss-Prot | VAR_005769 | Disease | p.LEU178GLN | Von Hippel-Lindau disease (VHLD) |
Swiss-Prot | VAR_005776 | Disease | p.LEU188GLN | Von Hippel-Lindau disease (VHLD) |
Swiss-Prot | VAR_035001 | Disease | p.LEU198GLN | Pheochromocytoma (PCC) |
Swiss-Prot | VAR_005708 | Disease | p.LEU101GLY | Von Hippel-Lindau disease (VHLD) |
Swiss-Prot | VAR_005699 | Polymorphism | p.LEU89HIS | N/A |
Swiss-Prot | VAR_005731 | Disease | p.LEU128PHE | Von Hippel-Lindau disease (VHLD) |
Swiss-Prot | VAR_034995 | Polymorphism | p.LEU135PHE | N/A |
Swiss-Prot | VAR_005726 | Disease | p.LEU118PRO | Von Hippel-Lindau disease (VHLD) |
Swiss-Prot | VAR_005748 | Disease | p.LEU158PRO | Von Hippel-Lindau disease (VHLD) |
Swiss-Prot | VAR_034998 | Disease | p.LEU163PRO | Renal cell carcinoma (RCC) |
Swiss-Prot | VAR_005768 | Disease | p.LEU178PRO | Von Hippel-Lindau disease (VHLD) |
Swiss-Prot | VAR_005772 | Disease | p.LEU184PRO | Von Hippel-Lindau disease (VHLD) |
Swiss-Prot | VAR_005775 | Disease | p.LEU188PRO | Von Hippel-Lindau disease (VHLD) |
Swiss-Prot | VAR_034987 | Disease | p.LEU63PRO | Pheochromocytoma (PCC) |
Swiss-Prot | VAR_005700 | Disease | p.LEU89PRO | Von Hippel-Lindau disease (VHLD) |
Swiss-Prot | VAR_005724 | Disease | p.LEU116VAL | Von Hippel-Lindau disease (VHLD) |
Swiss-Prot | VAR_005749 | Disease | p.LEU158VAL | Von Hippel-Lindau disease (VHLD) |
Swiss-Prot | VAR_005777 | Disease | p.LEU188VAL | Von Hippel-Lindau disease (VHLD) |
Swiss-Prot | VAR_005750 | Disease | p.LYS159GLU | Von Hippel-Lindau disease (VHLD) |
Swiss-Prot | VAR_005737 | Disease | p.PHE136CYS | Von Hippel-Lindau disease (VHLD) |
Swiss-Prot | VAR_005679 | Disease | p.PHE76ILE | Von Hippel-Lindau disease (VHLD) |
Swiss-Prot | VAR_005728 | Disease | p.PHE119LEU | Von Hippel-Lindau disease (VHLD) |
Swiss-Prot | VAR_005680 | Disease | p.PHE76LEU | Von Hippel-Lindau disease (VHLD) |
Swiss-Prot | VAR_005701 | Polymorphism | p.PHE91LEU | N/A |
Swiss-Prot | VAR_005729 | Disease | p.PHE119SER | Von Hippel-Lindau disease (VHLD) |
Swiss-Prot | VAR_005736 | Disease | p.PHE136SER | Von Hippel-Lindau disease (VHLD) |
Swiss-Prot | VAR_005681 | Disease | p.PHE76SER | Von Hippel-Lindau disease (VHLD) |
Swiss-Prot | VAR_008099 | Disease | p.PHE136TYR | Von Hippel-Lindau disease (VHLD) |
Swiss-Prot | VAR_005693 | Disease | p.PRO86ALA | Von Hippel-Lindau disease (VHLD) |
Swiss-Prot | VAR_005695 | Disease | p.PRO86ARG | Von Hippel-Lindau disease (VHLD) |
Swiss-Prot | VAR_008097 | Disease | p.PRO86HIS | Von Hippel-Lindau disease (VHLD) |
Swiss-Prot | VAR_005741 | Disease | p.PRO154LEU | Von Hippel-Lindau disease (VHLD) |
Swiss-Prot | VAR_034562 | Disease | p.PRO25LEU | Pheochromocytoma (PCC) |
Swiss-Prot | VAR_005694 | Disease | p.PRO86LEU | Von Hippel-Lindau disease (VHLD) |
Swiss-Prot | VAR_035000 | Disease | p.PRO192SER | Erythrocytosis, familial, 2 (ECYT2) |
Swiss-Prot | VAR_005689 | Disease | p.PRO81SER | Von Hippel-Lindau disease (VHLD) |
Swiss-Prot | VAR_005696 | Disease | p.PRO86SER | Von Hippel-Lindau disease (VHLD) |
Swiss-Prot | VAR_034989 | Disease | p.SER65ALA | Pheochromocytoma (PCC) |
Swiss-Prot | VAR_005716 | Disease | p.SER111ARG | Von Hippel-Lindau disease (VHLD) |
Swiss-Prot | VAR_005687 | Disease | p.SER80ARG | Von Hippel-Lindau disease (VHLD) |
Swiss-Prot | VAR_005715 | Disease | p.SER111ASN | Von Hippel-Lindau disease (VHLD) |
Swiss-Prot | VAR_005688 | Disease | p.SER80ASN | Von Hippel-Lindau disease (VHLD) |
Swiss-Prot | VAR_005714 | Disease | p.SER111CYS | Von Hippel-Lindau disease (VHLD) |
Swiss-Prot | VAR_005686 | Disease | p.SER80ILE | Von Hippel-Lindau disease (VHLD) |
Swiss-Prot | VAR_005672 | Disease | p.SER65LEU | Von Hippel-Lindau disease (VHLD) |
Swiss-Prot | VAR_005670 | Disease | p.SER38PRO | Von Hippel-Lindau disease (VHLD) |
Swiss-Prot | VAR_005673 | Disease | p.SER65TRP | Von Hippel-Lindau disease (VHLD) |
Swiss-Prot | VAR_005675 | Disease | p.SER68TRP | Von Hippel-Lindau disease (VHLD) |
Swiss-Prot | VAR_005746 | Disease | p.THR157ILE | Von Hippel-Lindau disease (VHLD) |
Swiss-Prot | VAR_005711 | Disease | p.THR105PRO | Von Hippel-Lindau disease (VHLD) |
Swiss-Prot | VAR_005697 | Disease | p.TRP88ARG | Von Hippel-Lindau disease (VHLD) |
Swiss-Prot | VAR_005725 | Disease | p.TRP117CYS | Von Hippel-Lindau disease (VHLD) |
Swiss-Prot | VAR_005698 | Disease | p.TRP88SER | Von Hippel-Lindau disease (VHLD) |
Swiss-Prot | VAR_034992 | Disease | p.TYR112ASN | Von Hippel-Lindau disease (VHLD) |
Swiss-Prot | VAR_034997 | Disease | p.TYR156ASN | Pheochromocytoma (PCC) |
Swiss-Prot | VAR_005744 | Disease | p.TYR156ASP | Von Hippel-Lindau disease (VHLD) |
Swiss-Prot | VAR_005766 | Disease | p.TYR175ASP | Von Hippel-Lindau disease (VHLD) |
Swiss-Prot | VAR_005743 | Disease | p.TYR156CYS | Von Hippel-Lindau disease (VHLD) |
Swiss-Prot | VAR_005717 | Disease | p.TYR112HIS | Von Hippel-Lindau disease (VHLD) |
Swiss-Prot | VAR_005707 | Disease | p.TYR98HIS | Von Hippel-Lindau disease (VHLD) |
Swiss-Prot | VAR_008103 | Disease | p.VAL166ASP | Von Hippel-Lindau disease (VHLD) |
Swiss-Prot | VAR_005763 | Disease | p.VAL170ASP | Von Hippel-Lindau disease (VHLD) |
Swiss-Prot | VAR_005742 | Disease | p.VAL155GLY | Von Hippel-Lindau disease (VHLD) |
Swiss-Prot | VAR_005765 | Disease | p.VAL170GLY | Von Hippel-Lindau disease (VHLD) |
Swiss-Prot | VAR_005677 | Disease | p.VAL74GLY | Von Hippel-Lindau disease (VHLD) |
Swiss-Prot | VAR_005733 | Disease | p.VAL130LEU | Von Hippel-Lindau disease (VHLD) |
Swiss-Prot | VAR_005692 | Disease | p.VAL84LEU | Von Hippel-Lindau disease (VHLD) |
Swiss-Prot | VAR_008101 | Disease | p.VAL155MET | Von Hippel-Lindau disease (VHLD) |
Swiss-Prot | VAR_005759 | Disease | p.VAL166PHE | Von Hippel-Lindau disease (VHLD) |
Swiss-Prot | VAR_005764 | Disease | p.VAL170PHE | Von Hippel-Lindau disease (VHLD) |
OMIM | 608537.0005 | Disease | p.ARG167GLN | VON HIPPEL-LINDAU SYNDROME |
OMIM | 608537.0004 | Disease | p.ARG167GLY | VON HIPPEL-LINDAU SYNDROME |
OMIM | 608537.0015 | Disease | p.ARG64PRO | PHEOCHROMOCYTOMA |
OMIM | 608537.0006 | Disease | p.ARG161TER | VON HIPPEL-LINDAU SYNDROME |
OMIM | 608537.0003 | Disease | p.ARG167TRP | VON HIPPEL-LINDAU SYNDROME||PHEOCHROMOCYTOMA, INCLUDED |
OMIM | 608537.0019 | Disease | p.ARG200TRP | POLYCYTHEMIA, CHUVASH TYPE |
OMIM | 608537.0022 | Disease | p.ASP126TYR | ERYTHROCYTOSIS, FAMILIAL, 2 |
OMIM | 608537.0027 | Disease | p.GLN164ARG | VON HIPPEL-LINDAU SYNDROME |
OMIM | 608537.0026 | Disease | p.GLY93SER | PHEOCHROMOCYTOMA |
OMIM | 608537.0024 | Disease | p.HIS191ASP | ERYTHROCYTOSIS, FAMILIAL, 2 |
OMIM | 608537.0008 | Disease | p.LEU135PHE | HEMANGIOBLASTOMA, SPORADIC CEREBELLAR |
OMIM | 608537.0018 | Disease | p.LEU163PRO | RENAL CELL CARCINOMA WITH PARANEOPLASTIC ERYTHROCYTOSIS |
OMIM | 608537.0016 | Disease | p.LEU63PRO | PHEOCHROMOCYTOMA |
OMIM | 608537.0014 | Disease | p.LEU188VAL | VON HIPPEL-LINDAU SYNDROME||ERYTHROCYTOSIS, FAMILIAL, 2, INCLUDED;;||PHEOCHROMOCYTOMA, INCLUDED |
OMIM | 608537.0023 | Disease | p.PRO192SER | ERYTHROCYTOSIS, FAMILIAL, 2 |
OMIM | 608537.0020 | Disease | p.PRO81SER | VON HIPPEL-LINDAU SYNDROME |
OMIM | 608537.0002 | Disease | p.SER183TER | RENAL CELL CARCINOMA, SOMATIC |
OMIM | 608537.0007 | Disease | p.TRP88SER | HEMANGIOBLASTOMA, SPORADIC CEREBELLAR||VON HIPPEL-LINDAU SYNDROME, INCLUDED |
OMIM | 608537.0017 | Disease | p.TYR112ASN | VON HIPPEL-LINDAU SYNDROME |
OMIM | 608537.0012 | Disease | p.TYR112HIS | VON HIPPEL-LINDAU SYNDROME |
OMIM | 608537.0009 | Disease | p.TYR98HIS | VON HIPPEL-LINDAU SYNDROME |
OMIM | 608537.0021 | Disease | p.VAL130LEU | ERYTHROCYTOSIS, FAMILIAL, 2 |
OMIM | 608537.0025 | Disease | p.VAL84LEU | VON HIPPEL-LINDAU SYNDROME |
OMIM | 608537.0013 | Disease | p.VAL166PHE | VON HIPPEL-LINDAU SYNDROME |