PDB ID | 1LM8
|
CHAIN | V |
---|---|---|---|
Protein name | Von Hippel-Lindau disease tumor suppressor | ||
Uniprot Accession | P40337 | ||
The number of similar proteins | 46 | ||
The number of binding states | 5 | ||
The number of binding partners | 5 |
Unicolor (beige)
The number of binding partners
Group
Binding state |
Binding partners |
---|---|
1LM8 (CHAIN: V) | |
1 |
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2 |
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3 |
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4 |
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5 |
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Only interaction residues |
|
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|
Residue | AA | Source | dbSNP | Clinical Significance |
Allele Frequency (> 0.0001) |
Disease name | |
---|---|---|---|---|---|---|---|
61_PRO | LEU |
8.3kJPN chr3:10183713 |
rs746582207
|
- | 0.0001 | - | |
63_LEU | PRO | VAR_034987 |
rs104893827
|
Disease | - | Pheochromocytoma (PCC) [MIM:171300] | |
64_ARG | PRO | VAR_034988 |
rs104893826
|
Disease | - | Pheochromocytoma (PCC) [MIM:171300] | |
64_ARG | PRO |
ClinVar chr3:10183722 |
rs104893826
|
Pathogenic/Likely pathogenic | - | Erythrocytosis, familial, 2 [MedGen:C1837915,OMIM:263400,Orphanet:ORPHA238557]; Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]; Pheochromocytoma [Human Phenotype Ontology:HP:0002666,MedGen:C0031511,OMIM:171300]; Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004]; Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004]; not provided [MedGen:CN517202] | |
65_SER | LEU | VAR_005672 |
rs5030826
|
Disease | - | Von Hippel-Lindau disease (VHLD) [MIM:193300] | |
65_SER | TRP | VAR_005673 |
rs5030826
|
Disease | - | Von Hippel-Lindau disease (VHLD) [MIM:193300] | |
65_SER | ALA | VAR_034989 |
rs869025616
|
Disease | - | Pheochromocytoma (PCC) [MIM:171300] | |
65_SER | TRP |
ClinVar chr3:10183725 |
rs5030826
|
Pathogenic | - | Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004]; not provided [MedGen:CN517202] | |
65_SER | LEU |
ClinVar chr3:10183725 |
rs5030826
|
Pathogenic | - | Cerebellar hemangioblastoma [Human Phenotype Ontology:HP:0006880,MedGen:C1332900]; Pancreatic cysts [Human Phenotype Ontology:HP:0001737,MedGen:C0030283]; Retinal capillary hemangioma [Human Phenotype Ontology:HP:0009711,MedGen:C0730303]; Spinal hemangioblastoma [Human Phenotype Ontology:HP:0009713,MedGen:C4024223]; Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004] | |
65_SER | ALA |
ClinVar chr3:10183724 |
rs869025616
|
Likely pathogenic | - | Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004] | |
65_SER | TER |
ClinVar chr3:10183725 |
rs5030826
|
Pathogenic | - | Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004] | |
65_SER | PRO |
ClinVar chr3:10183724 |
rs869025616
|
Pathogenic | - | Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004] | |
68_SER | TRP | VAR_005675 |
-
|
Disease | - | Pheochromocytoma (PCC) [MIM:171300] | |
68_SER | TER |
ClinVar chr3:10183734 |
rs869025617
|
Pathogenic | - | Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004] | |
70_GLU | LYS | VAR_005676 |
rs5030802
|
Disease | - | Von Hippel-Lindau disease (VHLD) [MIM:193300] | |
70_GLU | LYS |
ClinVar chr3:10183739 |
rs5030802
|
Pathogenic/Likely pathogenic | - | Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]; Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004] | |
70_GLU | TER |
ClinVar chr3:10183739 |
rs5030802
|
Pathogenic | - | Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]; not provided [MedGen:CN517202] | |
70_GLU | ASP |
8.3kJPN chr3:10183741 |
-
|
- | 0.0001 | - | |
72_SER | PRO |
ClinVar chr3:10183745 |
rs869025618
|
Likely pathogenic | - | Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]; Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004] | |
73_GLN | TER |
ClinVar chr3:10183748 |
rs869025619
|
Pathogenic | - | Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004]; not provided [MedGen:CN517202] | |
74_VAL | GLY | VAR_005677 |
rs5030803
|
Disease | - | Von Hippel-Lindau disease (VHLD) [MIM:193300] | |
76_PHE | ILE | VAR_005679 |
-
|
Disease | - | Von Hippel-Lindau disease (VHLD) [MIM:193300] | |
76_PHE | LEU | VAR_005680 |
-
|
Disease | - | Von Hippel-Lindau disease (VHLD) [MIM:193300] | |
76_PHE | SER | VAR_005681 |
rs730882033
|
Disease | - | Von Hippel-Lindau disease (VHLD) [MIM:193300] | |
78_ASN | HIS | VAR_005682 |
-
|
Disease | - | Von Hippel-Lindau disease (VHLD) [MIM:193300] | |
78_ASN | SER | VAR_005683 |
rs5030804
|
Disease | - | Von Hippel-Lindau disease (VHLD) [MIM:193300] | |
78_ASN | THR | VAR_005684 |
rs5030804
|
Disease | - | Von Hippel-Lindau disease (VHLD) [MIM:193300] | |
78_ASN | SER |
ClinVar chr3:10183764 |
rs5030804
|
Pathogenic | - | Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]; Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004]; not provided [MedGen:CN517202] | |
78_ASN | TYR |
ClinVar chr3:10183763 |
rs869025621
|
Likely pathogenic | - | Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]; Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004] | |
78_ASN | THR |
ClinVar chr3:10183764 |
rs5030804
|
Pathogenic | - | Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004]; not provided [MedGen:CN517202] | |
78_ASN | ILE |
ClinVar chr3:10183764 |
rs5030804
|
Pathogenic | - | Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004] | |
79_ARG | PRO | VAR_005685 |
-
|
Disease | - | Von Hippel-Lindau disease (VHLD) [MIM:193300] | |
80_SER | ILE | VAR_005686 |
rs5030805
|
Disease | - | Von Hippel-Lindau disease (VHLD) [MIM:193300] | |
80_SER | ARG | VAR_005687 |
-
|
Disease | - | Von Hippel-Lindau disease (VHLD) [MIM:193300] | |
80_SER | ASN | VAR_005688 |
rs5030805
|
Disease | - | Pheochromocytoma (PCC) [MIM:171300] | |
80_SER | GLY |
ClinVar chr3:10183769 |
rs786202787
|
Likely pathogenic | - | Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009] | |
80_SER | ARG |
ClinVar chr3:10183769 |
rs786202787
|
Pathogenic | - | Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004] | |
81_PRO | SER | VAR_005689 |
rs104893829
|
Disease | - | Von Hippel-Lindau disease (VHLD) [MIM:193300] | |
81_PRO | LEU |
ClinVar chr3:10183773 |
rs193922608
|
Likely pathogenic | - | Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]; Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004] | |
81_PRO | SER |
gnomAD chr3:10183772 |
rs104893829
|
- | 0.000199837 | - | |
82_ARG | PRO | VAR_005690 |
rs794726890
|
Disease | - | Von Hippel-Lindau disease (VHLD) [MIM:193300] | |
82_ARG | PRO |
ClinVar chr3:10183776 |
rs794726890
|
Pathogenic | - | Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004]; not provided [MedGen:CN517202] | |
82_ARG | LEU |
ClinVar chr3:10183776 |
rs794726890
|
Pathogenic | - | Erythrocytosis, familial, 2 [MedGen:C1837915,OMIM:263400,Orphanet:ORPHA238557]; Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004] | |
84_VAL | LEU | VAR_005692 |
rs5030827
|
Disease | - | Von Hippel-Lindau disease (VHLD) [MIM:193300] | |
84_VAL | LEU |
ClinVar chr3:10183781 |
rs5030827
|
Pathogenic | - | Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004] | |
84_VAL | LEU |
ClinVar chr3:10183781 |
rs5030827
|
Pathogenic | - | Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]; Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004] | |
85_LEU | PRO |
ClinVar chr3:10183785 |
rs5030828
|
Likely pathogenic | - | Neoplasm [Human Phenotype Ontology:HP:0002664,MeSH:D009369,MedGen:C0027651,SNOMED CT:108369006] | |
86_PRO | ALA | VAR_005693 |
rs398123481
|
Disease | - | Von Hippel-Lindau disease (VHLD) [MIM:193300] | |
86_PRO | LEU | VAR_005694 |
rs730882034
|
Disease | - | Von Hippel-Lindau disease (VHLD) [MIM:193300] | |
86_PRO | ARG | VAR_005695 |
rs730882034
|
Disease | - | Von Hippel-Lindau disease (VHLD) [MIM:193300] | |
86_PRO | SER | VAR_005696 |
rs398123481
|
Disease | - | Von Hippel-Lindau disease (VHLD) [MIM:193300] | |
86_PRO | HIS | VAR_008097 |
-
|
Disease | - | Von Hippel-Lindau disease (VHLD) [MIM:193300] | |
86_PRO | ALA |
ClinVar chr3:10183787 |
rs398123481
|
Pathogenic/Likely pathogenic | - | Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004]; not provided [MedGen:CN517202] | |
86_PRO | SER |
ClinVar chr3:10183787 |
rs398123481
|
Pathogenic/Likely pathogenic | - | Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]; Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004]; not provided [MedGen:CN517202] | |
86_PRO | LEU |
ClinVar chr3:10183788 |
rs730882034
|
Pathogenic | - | Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]; Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004] | |
86_PRO | ARG |
ClinVar chr3:10183788 |
rs730882034
|
Pathogenic | - | Erythrocytosis, familial, 2 [MedGen:C1837915,OMIM:263400,Orphanet:ORPHA238557]; Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004]; Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004] | |
88_TRP | ARG | VAR_005697 |
-
|
Disease | - | Von Hippel-Lindau disease (VHLD) [MIM:193300] | |
88_TRP | SER | VAR_005698 |
rs119103277
|
Disease | - | Von Hippel-Lindau disease (VHLD) [MIM:193300] | |
88_TRP | SER |
ClinVar chr3:10183794 |
rs119103277
|
Pathogenic | - | Cerebellar hemangioblastoma [Human Phenotype Ontology:HP:0006880,MedGen:C1332900]; Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004] | |
88_TRP | TER |
ClinVar chr3:10183794 |
rs119103277
|
Pathogenic | - | Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]; Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004]; not provided [MedGen:CN517202] | |
88_TRP | CYS |
ClinVar chr3:10183795 |
rs869025622
|
Likely pathogenic | - | Erythrocytosis, familial, 2 [MedGen:C1837915,OMIM:263400,Orphanet:ORPHA238557]; Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]; Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004]; Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004] | |
88_TRP | ARG |
ClinVar chr3:10183793 |
rs1553619431
|
Pathogenic | - | Erythrocytosis, familial, 2 [MedGen:C1837915,OMIM:263400,Orphanet:ORPHA238557]; Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004]; Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004]; not provided [MedGen:CN517202] | |
88_TRP | ARG |
ClinVar chr3:10183793 |
rs1553619431
|
Pathogenic | - | Erythrocytosis, familial, 2 [MedGen:C1837915,OMIM:263400,Orphanet:ORPHA238557]; Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004]; Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004] | |
88_TRP | CYS |
ClinVar chr3:10183795 |
-
|
Pathogenic | - | Erythrocytosis, familial, 2 [MedGen:C1837915,OMIM:263400,Orphanet:ORPHA238557]; Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004] | |
89_LEU | HIS | VAR_005699 |
rs5030807
|
Unclassified | - | Lung cancer | |
89_LEU | PRO | VAR_005700 |
rs5030807
|
Disease | - | Von Hippel-Lindau disease (VHLD) [MIM:193300] | |
89_LEU | PRO |
ClinVar chr3:10183797 |
rs5030807
|
Likely pathogenic | - | Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]; Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004] | |
89_LEU | HIS |
ClinVar chr3:10183797 |
rs5030807
|
Likely pathogenic | - | Renal cell carcinoma, papillary, 1 [Human Phenotype Ontology:HP:0005584,MeSH:D002292,MedGen:C0007134,OMIM:605074,Orphanet:ORPHA217071,SNOMED CT:41607009] | |
90_ASN | ILE |
ClinVar chr3:10183800 |
rs143985153
|
Likely pathogenic | - | Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004] | |
91_PHE | LEU | VAR_005701 |
rs1060503563
|
Polymorphism | - | - | |
92_ASP | TYR |
8.3kJPN chr3:10183805 |
rs587780731
|
- | 0.0001 | - | |
93_GLY | CYS | VAR_005703 |
rs5030808
|
Disease | - | Pheochromocytoma (PCC) [MIM:171300] | |
93_GLY | ASP | VAR_005704 |
-
|
Disease | - | Von Hippel-Lindau disease (VHLD) [MIM:193300] | |
93_GLY | SER | VAR_005705 |
rs5030808
|
Disease | - | Pheochromocytoma (PCC) [MIM:171300] | |
93_GLY | SER |
ClinVar chr3:10183808 |
rs5030808
|
Pathogenic | - | Erythrocytosis, familial, 2 [MedGen:C1837915,OMIM:263400,Orphanet:ORPHA238557]; Pheochromocytoma [Human Phenotype Ontology:HP:0002666,MedGen:C0031511,OMIM:171300]; Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004]; Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004] | |
93_GLY | ARG |
ClinVar chr3:10183808 |
rs5030808
|
Likely pathogenic | - | Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004] | |
93_GLY | CYS |
ClinVar chr3:10183808 |
rs5030808
|
Pathogenic | - | Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004] | |
93_GLY | ASP |
ClinVar chr3:10183809 |
rs1553619440
|
Pathogenic | - | Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004] | |
94_GLU | TER |
ClinVar chr3:10183811 |
-
|
Pathogenic | - | Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009] | |
96_GLN | PRO | VAR_005706 |
-
|
Disease | - | Von Hippel-Lindau disease (VHLD) [MIM:193300] | |
96_GLN | TER |
ClinVar chr3:10183817 |
rs1131690959
|
Pathogenic | - | Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009] | |
98_TYR | HIS | VAR_005707 |
rs5030809
|
Disease | - | Pheochromocytoma (PCC) [MIM:171300] | |
98_TYR | HIS |
ClinVar chr3:10183823 |
rs5030809
|
Pathogenic | - | Erythrocytosis, familial, 2 [MedGen:C1837915,OMIM:263400,Orphanet:ORPHA238557]; Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]; Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004]; Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004]; not provided [MedGen:CN517202] | |
98_TYR | CYS |
ClinVar chr3:10183824 |
rs864321643
|
Pathogenic | - | Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004] | |
100_THR | ALA |
8.3kJPN chr3:10183829 |
rs745901803
|
- | 0.0001 | - | |
101_LEU | GLY | VAR_005708 |
-
|
Disease | - | Von Hippel-Lindau disease (VHLD) [MIM:193300] | |
101_LEU | ARG | VAR_005709 |
-
|
Disease | - | Von Hippel-Lindau disease (VHLD) [MIM:193300] | |
104_GLY | ALA | VAR_005710 |
rs869025630
|
Polymorphism | - | - | |
105_THR | PRO | VAR_005711 |
-
|
Disease | - | Von Hippel-Lindau disease (VHLD) [MIM:193300] | |
105_THR | PRO |
ClinVar chr3:10183844 |
rs1553619461
|
Pathogenic | - | Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004] | |
106_GLY | ASP | VAR_005712 |
rs1446876735
|
Unclassified | - | Lung cancer | |
107_ARG | PRO | VAR_005713 |
rs193922609
|
Disease | - | Von Hippel-Lindau disease (VHLD) [MIM:193300] | |
107_ARG | GLY | VAR_034991 |
rs397516440
|
Disease | - | Pheochromocytoma (PCC) [MIM:171300] | |
107_ARG | PRO |
ClinVar chr3:10183851 |
rs193922609
|
Pathogenic/Likely pathogenic | - | Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]; Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004]; not provided [MedGen:CN517202] | |
107_ARG | GLY |
ClinVar chr3:10183850 |
rs397516440
|
Pathogenic | - | Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004] | |
107_ARG | HIS |
ClinVar chr3:10183851 |
rs193922609
|
Pathogenic | - | Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]; Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004] | |
109_ILE | ASN |
ClinVar chr3:10183857 |
rs398123482
|
Likely pathogenic | - | not provided [MedGen:CN517202] | |
110_HIS | TYR | VAR_055087 |
rs17855706
|
Polymorphism | - | - | |
111_SER | CYS | VAR_005714 |
-
|
Disease | - | Von Hippel-Lindau disease (VHLD) [MIM:193300] | |
111_SER | ASN | VAR_005715 |
rs869025631
|
Disease | - | Von Hippel-Lindau disease (VHLD) [MIM:193300] | |
111_SER | ARG | VAR_005716 |
rs765978945
|
Disease | - | Von Hippel-Lindau disease (VHLD) [MIM:193300] | |
111_SER | ASN |
ClinVar chr3:10183863 |
rs869025631
|
Pathogenic | - | Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]; Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004] | |
111_SER | ARG |
ClinVar chr3:10183864 |
rs765978945
|
Pathogenic | - | Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]; Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004] | |
111_SER | CYS |
ClinVar chr3:10183862 |
-
|
Pathogenic | - | Erythrocytosis, familial, 2 [MedGen:C1837915,OMIM:263400,Orphanet:ORPHA238557]; Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004] | |
112_TYR | HIS | VAR_005717 |
rs104893824
|
Disease | - | Von Hippel-Lindau disease (VHLD) [MIM:193300] | |
112_TYR | ASN | VAR_034992 |
rs104893824
|
Disease | - | Von Hippel-Lindau disease (VHLD) [MIM:193300] | |
112_TYR | HIS |
ClinVar chr3:10183865 |
rs104893824
|
Pathogenic | - | Erythrocytosis, familial, 2 [MedGen:C1837915,OMIM:263400,Orphanet:ORPHA238557]; Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004]; Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004] | |
112_TYR | ASN |
ClinVar chr3:10183865 |
rs104893824
|
Pathogenic | - | Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004] | |
113_ARG | TER |
ClinVar chr3:10183868 |
rs5030810
|
Pathogenic | - | Erythrocytosis, familial, 2 [MedGen:C1837915,OMIM:263400,Orphanet:ORPHA238557]; Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004]; Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004] | |
114_GLY | CYS | VAR_005718 |
-
|
Disease | - | Von Hippel-Lindau disease (VHLD) [MIM:193300] | |
114_GLY | ARG | VAR_005719 |
rs869025636
|
Disease | - | Von Hippel-Lindau disease (VHLD) [MIM:193300] | |
114_GLY | SER | VAR_005720 |
-
|
Disease | - | Von Hippel-Lindau disease (VHLD) [MIM:193300] | |
114_GLY | ARG |
ClinVar chr3:10183871 |
rs869025636
|
Pathogenic | - | Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004] | |
114_GLY | SER |
ClinVar chr3:10183871 |
-
|
Pathogenic | - | Erythrocytosis, familial, 2 [MedGen:C1837915,OMIM:263400,Orphanet:ORPHA238557]; Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004] | |
115_HIS | TYR | VAR_005722 |
rs5030811
|
Disease | - | Von Hippel-Lindau disease (VHLD) [MIM:193300] | |
115_HIS | GLN | VAR_005723 |
-
|
Disease | - | Von Hippel-Lindau disease (VHLD) [MIM:193300] | |
115_HIS | ARG | VAR_008098 |
rs5030812
|
Disease | - | Von Hippel-Lindau disease (VHLD) [MIM:193300] | |
115_HIS | GLN |
ClinVar chr3:10188202 |
rs864622646
|
Pathogenic | - | Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004] | |
115_HIS | PRO |
ClinVar chr3:10188201 |
-
|
Likely pathogenic | - | not provided [MedGen:CN517202] | |
116_LEU | VAL | VAR_005724 |
-
|
Disease | - | Von Hippel-Lindau disease (VHLD) [MIM:193300] | |
117_TRP | CYS | VAR_005725 |
rs727504215
|
Disease | - | Von Hippel-Lindau disease (VHLD) [MIM:193300] | |
117_TRP | CYS |
ClinVar chr3:10188208 |
rs727504215
|
Pathogenic | - | Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004]; not provided [MedGen:CN517202] | |
118_LEU | PRO | VAR_005726 |
rs5030830
|
Disease | - | Von Hippel-Lindau disease (VHLD) [MIM:193300] | |
118_LEU | ARG | VAR_005727 |
rs5030830
|
Disease | - | Von Hippel-Lindau disease (VHLD) [MIM:193300] | |
118_LEU | PRO |
ClinVar chr3:10188210 |
rs5030830
|
Pathogenic | - | Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009] | |
118_LEU | ARG |
ClinVar chr3:10188210 |
rs5030830
|
Pathogenic | - | Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009] | |
119_PHE | LEU | VAR_005728 |
-
|
Disease | - | Pheochromocytoma (PCC) [MIM:171300] | |
119_PHE | SER | VAR_005729 |
-
|
Disease | - | Von Hippel-Lindau disease (VHLD) [MIM:193300] | |
119_PHE | LEU |
ClinVar chr3:10188212 |
rs1553619948
|
Pathogenic | - | Erythrocytosis, familial, 2 [MedGen:C1837915,OMIM:263400,Orphanet:ORPHA238557]; Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004]; Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004] | |
120_ARG | GLY |
ClinVar chr3:10188215 |
rs869025642
|
Likely pathogenic | - | Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004] | |
121_ASP | GLY | VAR_005730 |
rs5030832
|
Disease | - | Von Hippel-Lindau disease (VHLD) [MIM:193300] | |
121_ASP | GLY |
ClinVar chr3:10188219 |
rs5030832
|
Pathogenic | - | Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004]; not provided [MedGen:CN517202] | |
122_ALA | ILE | VAR_034993 |
-
|
Disease | - | Pheochromocytoma (PCC) [MIM:171300] | |
124_THR | ILE |
ClinVar chr3:10188228 |
rs193922610
|
Likely pathogenic | - | Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004]; not provided [MedGen:CN517202] | |
124_THR | ALA |
ClinVar chr3:10188227 |
-
|
Likely pathogenic | - | Erythrocytosis, familial, 2 [MedGen:C1837915,OMIM:263400,Orphanet:ORPHA238557]; Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004] | |
125_HIS | PRO |
ClinVar chr3:10188231 |
rs869025643
|
Pathogenic | - | Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004] | |
126_ASP | TYR | VAR_034994 |
rs104893831
|
Disease | - | Erythrocytosis, familial, 2 (ECYT2) [MIM:263400] | |
126_ASP | TYR |
ClinVar chr3:10188233 |
rs104893831
|
Pathogenic | - | Erythrocytosis, familial, 2 [MedGen:C1837915,OMIM:263400,Orphanet:ORPHA238557] | |
128_LEU | PHE | VAR_005731 |
-
|
Disease | - | Von Hippel-Lindau disease (VHLD) [MIM:193300] | |
129_LEU | VAL |
8.3kJPN chr3:10188242 |
rs369018004
|
- | 0.0002 | - | |
130_VAL | LEU | VAR_005733 |
rs104893830
|
Disease | - | Erythrocytosis, familial, 2 (ECYT2) [MIM:263400] | |
130_VAL | LEU |
ClinVar chr3:10188245 |
rs104893830
|
Pathogenic | - | Erythrocytosis, familial, 2 [MedGen:C1837915,OMIM:263400,Orphanet:ORPHA238557]; Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]; Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004] | |
130_VAL | PHE |
ClinVar chr3:10188245 |
rs104893830
|
Pathogenic | - | Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004] | |
131_ASN | LYS | VAR_005734 |
rs1064794272
|
Disease | - | Von Hippel-Lindau disease (VHLD) [MIM:193300] | |
131_ASN | THR | VAR_005735 |
-
|
Disease | - | Von Hippel-Lindau disease (VHLD) [MIM:193300] | |
131_ASN | SER |
ClinVar chr3:10188249 |
rs1553619963
|
Likely pathogenic | - | Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004] | |
132_GLN | TER |
ClinVar chr3:10188251 |
rs5030813
|
Pathogenic | - | not provided [MedGen:CN517202] | |
132_GLN | PRO |
ClinVar chr3:10188252 |
rs1347416980
|
Pathogenic | - | Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004] | |
133_THR | PRO |
ClinVar chr3:10188254 |
rs1131690961
|
Likely pathogenic | - | Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009] | |
135_LEU | PHE | VAR_034995 |
rs119103278
|
Polymorphism | - | - | |
135_LEU | PHE |
ClinVar chr3:10188262 |
rs119103278
|
Pathogenic | - | Cerebellar hemangioblastoma [Human Phenotype Ontology:HP:0006880,MedGen:C1332900] | |
136_PHE | SER | VAR_005736 |
rs5030833
|
Disease | - | Von Hippel-Lindau disease (VHLD) [MIM:193300] | |
136_PHE | CYS | VAR_005737 |
rs5030833
|
Disease | - | Pheochromocytoma (PCC) [MIM:171300] | |
136_PHE | TYR | VAR_008099 |
-
|
Disease | - | Von Hippel-Lindau disease (VHLD) [MIM:193300] | |
136_PHE | CYS |
ClinVar chr3:10188264 |
rs5030833
|
Pathogenic | - | Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009] | |
136_PHE | SER |
ClinVar chr3:10188264 |
rs5030833
|
Pathogenic | - | Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004]; not provided [MedGen:CN517202] | |
143_ASP | GLU | VAR_005738 |
-
|
Disease | - | Von Hippel-Lindau disease (VHLD) [MIM:193300] | |
144_GLY | TER |
ClinVar chr3:10188287 |
rs869025650
|
Pathogenic | - | Erythrocytosis, familial, 2 [MedGen:C1837915,OMIM:263400,Orphanet:ORPHA238557]; Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004]; Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004] | |
145_GLN | HIS | VAR_008100 |
rs771727849
|
Disease | - | Von Hippel-Lindau disease (VHLD) [MIM:193300] | |
147_ILE | THR | VAR_034996 |
rs1060503555
|
Disease | - | Pheochromocytoma (PCC) [MIM:171300] | |
149_ALA | THR | VAR_005740 |
rs587780077
|
Disease | - | Von Hippel-Lindau disease (VHLD) [MIM:193300] | |
149_ALA | SER |
ClinVar chr3:10188302 |
rs587780077
|
Pathogenic | - | Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]; Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004]; not provided [MedGen:CN517202] | |
149_ALA | THR |
ClinVar chr3:10188302 |
rs587780077
|
Pathogenic | - | Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004] | |
151_ILE | SER |
ClinVar chr3:10188309 |
rs869025655
|
Pathogenic | - | Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004] | |
153_LEU | GLN |
ClinVar chr3:10188315 |
rs193922611
|
Likely pathogenic | - | Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004] | |
154_PRO | LEU | VAR_005741 |
-
|
Disease | - | Von Hippel-Lindau disease (VHLD) [MIM:193300] | |
155_VAL | GLY | VAR_005742 |
-
|
Disease | - | Von Hippel-Lindau disease (VHLD) [MIM:193300] | |
155_VAL | MET | VAR_008101 |
rs869025659
|
Disease | - | Von Hippel-Lindau disease (VHLD) [MIM:193300] | |
156_TYR | CYS | VAR_005743 |
rs397516441
|
Disease | - | Pheochromocytoma (PCC) [MIM:171300] | |
156_TYR | ASP | VAR_005744 |
-
|
Disease | - | Von Hippel-Lindau disease (VHLD) [MIM:193300] | |
156_TYR | ASN | VAR_034997 |
-
|
Disease | - | Pheochromocytoma (PCC) [MIM:171300] | |
156_TYR | CYS |
ClinVar chr3:10191474 |
rs397516441
|
Pathogenic/Likely pathogenic | - | Erythrocytosis, familial, 2 [MedGen:C1837915,OMIM:263400,Orphanet:ORPHA238557]; Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]; Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004]; Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004]; not provided [MedGen:CN517202] | |
157_THR | ILE | VAR_005746 |
rs869025660
|
Disease | - | Von Hippel-Lindau disease (VHLD) [MIM:193300] | |
157_THR | ILE |
ClinVar chr3:10191477 |
rs869025660
|
Pathogenic | - | Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004] | |
158_LEU | PRO | VAR_005748 |
rs121913346
|
Disease | - | Von Hippel-Lindau disease (VHLD) [MIM:193300] | |
158_LEU | VAL | VAR_005749 |
-
|
Disease | - | Von Hippel-Lindau disease (VHLD) [MIM:193300] | |
158_LEU | PRO |
ClinVar chr3:10191480 |
rs121913346
|
Pathogenic | - | Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]; Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004]; not provided [MedGen:CN517202] | |
158_LEU | GLN |
ClinVar chr3:10191480 |
rs121913346
|
Likely pathogenic | - | Renal cell carcinoma, papillary, 1 [Human Phenotype Ontology:HP:0005584,MeSH:D002292,MedGen:C0007134,OMIM:605074,Orphanet:ORPHA217071,SNOMED CT:41607009] | |
158_LEU | VAL |
ClinVar chr3:10191479 |
-
|
Pathogenic | - | Erythrocytosis, familial, 2 [MedGen:C1837915,OMIM:263400,Orphanet:ORPHA238557]; Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004] | |
159_LYS | GLU | VAR_005750 |
-
|
Disease | - | Von Hippel-Lindau disease (VHLD) [MIM:193300] | |
160_GLU | VAL |
ClinVar chr3:10191486 |
rs864321641
|
Likely pathogenic | - | Pheochromocytoma [Human Phenotype Ontology:HP:0002666,MedGen:C0031511,OMIM:171300] | |
161_ARG | GLN | VAR_005751 |
rs730882035
|
Disease | - | Pheochromocytoma (PCC) [MIM:171300] | |
161_ARG | PRO | VAR_005752 |
-
|
Disease | - | Pheochromocytoma (PCC) [MIM:171300] | |
161_ARG | GLY | VAR_005753 |
rs5030818
|
Disease | - | Von Hippel-Lindau disease (VHLD) [MIM:193300] | |
161_ARG | TER |
ClinVar chr3:10191488 |
rs5030818
|
Pathogenic | - | Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]; Renal cell carcinoma, papillary, 1 [Human Phenotype Ontology:HP:0005584,MeSH:D002292,MedGen:C0007134,OMIM:605074,Orphanet:ORPHA217071,SNOMED CT:41607009]; Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004]; not provided [MedGen:CN517202] | |
161_ARG | GLN |
ClinVar chr3:10191489 |
rs730882035
|
Pathogenic | - | Erythrocytosis, familial, 2 [MedGen:C1837915,OMIM:263400,Orphanet:ORPHA238557]; Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]; Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004]; Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004]; not provided [MedGen:CN517202] | |
162_CYS | PHE | VAR_005754 |
rs397516444
|
Disease | - | Von Hippel-Lindau disease (VHLD) [MIM:193300] | |
162_CYS | ARG | VAR_005755 |
-
|
Disease | - | Von Hippel-Lindau disease (VHLD) [MIM:193300] | |
162_CYS | TRP | VAR_005756 |
rs869025662
|
Disease | - | Von Hippel-Lindau disease (VHLD) [MIM:193300] | |
162_CYS | TYR | VAR_005757 |
rs397516444
|
Disease | - | Von Hippel-Lindau disease (VHLD) [MIM:193300] | |
162_CYS | PHE |
ClinVar chr3:10191492 |
rs397516444
|
Pathogenic | - | Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004] | |
162_CYS | TYR |
ClinVar chr3:10191492 |
rs397516444
|
Pathogenic | - | Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004] | |
162_CYS | TER |
ClinVar chr3:10191493 |
rs5030622
|
Likely pathogenic | - | Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004] | |
162_CYS | ARG |
ClinVar chr3:10191491 |
rs1553620313
|
Pathogenic | - | Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004] | |
163_LEU | PRO | VAR_034998 |
rs28940297
|
Disease | - | Renal cell carcinoma (RCC) [MIM:144700] | |
163_LEU | PRO |
ClinVar chr3:10191495 |
rs28940297
|
Pathogenic | - | Renal cell carcinoma with paraneoplastic erythrocytosis [MedGen:C4017161] | |
163_LEU | PHE |
ClinVar chr3:10191494 |
rs1553620318
|
Likely pathogenic | - | Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009] | |
164_GLN | ARG | VAR_005758 |
rs267607170
|
Disease | - | Von Hippel-Lindau disease (VHLD) [MIM:193300] | |
164_GLN | HIS | VAR_008102 |
rs1352275281
|
Disease | - | Von Hippel-Lindau disease (VHLD) [MIM:193300] | |
164_GLN | ARG |
ClinVar chr3:10191498 |
rs267607170
|
Pathogenic | - | Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004] | |
164_GLN | TER |
ClinVar chr3:10191497 |
rs5030819
|
Pathogenic | - | Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004]; not provided [MedGen:CN517202] | |
164_GLN | HIS |
ClinVar chr3:10191499 |
rs1352275281
|
Likely pathogenic | - | Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004] | |
166_VAL | PHE | VAR_005759 |
rs104893825
|
Disease | - | Von Hippel-Lindau disease (VHLD) [MIM:193300] | |
166_VAL | ASP | VAR_008103 |
-
|
Disease | - | Von Hippel-Lindau disease (VHLD) [MIM:193300] | |
166_VAL | PHE |
ClinVar chr3:10191503 |
rs104893825
|
Pathogenic | - | Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]; Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004] | |
166_VAL | ALA |
ClinVar chr3:10191504 |
rs397516445
|
Pathogenic | - | Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004] | |
167_ARG | GLY | VAR_005760 |
rs5030820
|
Disease | - | Von Hippel-Lindau disease (VHLD) [MIM:193300] | |
167_ARG | GLN | VAR_005761 |
rs5030821
|
Disease | - | Pheochromocytoma (PCC) [MIM:171300] | |
167_ARG | TRP | VAR_005762 |
rs5030820
|
Disease | - | Pheochromocytoma (PCC) [MIM:171300] | |
167_ARG | GLN |
ClinVar chr3:10191507 |
rs5030821
|
Pathogenic | - | Erythrocytosis, familial, 2 [MedGen:C1837915,OMIM:263400,Orphanet:ORPHA238557]; Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]; Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004]; Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004]; not provided [MedGen:CN517202]; not specified [MedGen:CN169374] | |
167_ARG | TRP |
ClinVar chr3:10191506 |
rs5030820
|
Pathogenic | - | Erythrocytosis, familial, 2 [MedGen:C1837915,OMIM:263400,Orphanet:ORPHA238557]; Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]; Pheochromocytoma [Human Phenotype Ontology:HP:0002666,MedGen:C0031511,OMIM:171300]; Renal cell carcinoma, papillary, 1 [Human Phenotype Ontology:HP:0005584,MeSH:D002292,MedGen:C0007134,OMIM:605074,Orphanet:ORPHA217071,SNOMED CT:41607009]; Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004]; Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004]; not provided [MedGen:CN517202] | |
167_ARG | GLY |
ClinVar chr3:10191506 |
rs5030820
|
Likely pathogenic | - | Erythrocytosis, familial, 2 [MedGen:C1837915,OMIM:263400,Orphanet:ORPHA238557]; Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004]; Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004] | |
167_ARG | PRO |
ClinVar chr3:10191507 |
rs5030821
|
Pathogenic | - | Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009] | |
167_ARG | LEU |
ClinVar chr3:10191507 |
rs5030821
|
Pathogenic | - | Erythrocytosis, familial, 2 [MedGen:C1837915,OMIM:263400,Orphanet:ORPHA238557]; Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004] | |
169_LEU | PRO |
ClinVar chr3:10191513 |
rs1131690962
|
Likely pathogenic | - | Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009] | |
169_LEU | VAL |
8.3kJPN chr3:10191512 |
-
|
- | 0.0001 | - | |
170_VAL | ASP | VAR_005763 |
-
|
Disease | - | Von Hippel-Lindau disease (VHLD) [MIM:193300] | |
170_VAL | PHE | VAR_005764 |
-
|
Disease | - | Von Hippel-Lindau disease (VHLD) [MIM:193300] | |
170_VAL | GLY | VAR_005765 |
-
|
Disease | - | Von Hippel-Lindau disease (VHLD) [MIM:193300] | |
170_VAL | ALA |
ClinVar chr3:10191516 |
rs864321642
|
Likely pathogenic | - | Pheochromocytoma [Human Phenotype Ontology:HP:0002666,MedGen:C0031511,OMIM:171300] | |
175_TYR | ASP | VAR_005766 |
-
|
Disease | - | Von Hippel-Lindau disease (VHLD) [MIM:193300] | |
175_TYR | CYS |
ClinVar chr3:10191531 |
rs193922613
|
Likely pathogenic | - | Erythrocytosis, familial, 2 [MedGen:C1837915,OMIM:263400,Orphanet:ORPHA238557]; Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]; Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004]; Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004] | |
175_TYR | TER |
ClinVar chr3:10191532 |
rs5030835
|
Pathogenic | - | Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004] | |
176_ARG | TRP | VAR_008104 |
-
|
Disease | - | Von Hippel-Lindau disease (VHLD) [MIM:193300] | |
178_LEU | PRO | VAR_005768 |
rs5030822
|
Disease | - | Von Hippel-Lindau disease (VHLD) [MIM:193300] | |
178_LEU | GLN | VAR_005769 |
rs5030822
|
Disease | - | Von Hippel-Lindau disease (VHLD) [MIM:193300] | |
178_LEU | PRO |
ClinVar chr3:10191540 |
rs5030822
|
Pathogenic/Likely pathogenic | - | Erythrocytosis, familial, 2 [MedGen:C1837915,OMIM:263400,Orphanet:ORPHA238557]; Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]; Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004] | |
180_ILE | VAL | VAR_005770 |
rs377715747
|
Disease | - | Von Hippel-Lindau disease (VHLD) [MIM:193300] | |
183_SER | TER |
ClinVar chr3:10191555 |
rs5030823
|
Pathogenic | - | Erythrocytosis, familial, 2 [MedGen:C1837915,OMIM:263400,Orphanet:ORPHA238557]; Renal cell carcinoma, papillary, 1 [Human Phenotype Ontology:HP:0005584,MeSH:D002292,MedGen:C0007134,OMIM:605074,Orphanet:ORPHA217071,SNOMED CT:41607009]; Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004]; Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004] | |
183_SER | TRP |
ClinVar chr3:10191555 |
rs5030823
|
Likely pathogenic | - | Pheochromocytoma [Human Phenotype Ontology:HP:0002666,MedGen:C0031511,OMIM:171300] | |
183_SER | LEU |
8.3kJPN chr3:10191555 |
rs5030823
|
- | 0.0002 | - | |
184_LEU | ARG | VAR_005771 |
-
|
Disease | - | Von Hippel-Lindau disease (VHLD) [MIM:193300] | |
184_LEU | PRO | VAR_005772 |
rs1064793878
|
Disease | - | Von Hippel-Lindau disease (VHLD) [MIM:193300] | |
184_LEU | PRO |
ClinVar chr3:10191558 |
rs1064793878
|
Pathogenic | - | not provided [MedGen:CN517202] | |
185_TYR | TER |
ClinVar chr3:10191562 |
rs864622109
|
Pathogenic | - | Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]; Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004] | |
186_GLU | LYS | VAR_005773 |
rs367545984
|
Disease | - | Von Hippel-Lindau disease (VHLD) [MIM:193300] | |
186_GLU | TER |
ClinVar chr3:10191563 |
rs367545984
|
Likely pathogenic | - | not provided [MedGen:CN517202] | |
188_LEU | PRO | VAR_005775 |
-
|
Disease | - | Von Hippel-Lindau disease (VHLD) [MIM:193300] | |
188_LEU | GLN | VAR_005776 |
-
|
Disease | - | Von Hippel-Lindau disease (VHLD) [MIM:193300] | |
188_LEU | VAL | VAR_005777 |
rs5030824
|
Disease | - | Erythrocytosis, familial, 2 (ECYT2) [MIM:263400] | |
191_HIS | ASP | VAR_034999 |
rs28940301
|
Disease | - | Erythrocytosis, familial, 2 (ECYT2) [MIM:263400] | |
191_HIS | ASP |
ClinVar chr3:10191578 |
rs28940301
|
Pathogenic | - | Erythrocytosis, familial, 2 [MedGen:C1837915,OMIM:263400,Orphanet:ORPHA238557] | |
192_PRO | SER | VAR_035000 |
rs28940300
|
Disease | - | Erythrocytosis, familial, 2 (ECYT2) [MIM:263400] | |
195_GLN | TER |
ClinVar chr3:10191590 |
rs5030825
|
Pathogenic | - | Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009] | |
196_LYS | TER |
ClinVar chr3:10191593 |
rs281860296
|
Pathogenic | - | Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004]; not provided [MedGen:CN517202] | |
198_LEU | ARG | VAR_005778 |
-
|
Disease | - | Erythrocytosis, familial, 2 (ECYT2) [MIM:263400] | |
198_LEU | GLN | VAR_035001 |
-
|
Disease | - | Pheochromocytoma (PCC) [MIM:171300] | |
198_LEU | PRO |
ClinVar chr3:10191600 |
rs869025667
|
Likely pathogenic | - | Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004] | |
200_ARG | TRP | VAR_005779 |
rs28940298
|
Disease | - | Erythrocytosis, familial, 2 (ECYT2) [MIM:263400] | |
200_ARG | TRP |
gnomAD chr3:10191605 |
rs28940298
|
- | 0.000210855 | - | |
206_ILE | MET |
8.3kJPN chr3:10191625 |
-
|
- | 0.0001 | - |