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

Coloring

Unicolor (beige)

The number of binding partners

Group

Binding
state
Binding partners
1LM8 (CHAIN: V)
1 Q15369   Q15370  
2 Q15369  
3 Q15369   Q13617  
4 Q15369   Q15370   O60885  
5 Q15369   Q15370   Q16665  

Downdload

Format:

Molecule viewer

#binding
partners
  5
  4
  3
  2
  1
  0

Sequence information

1   MEAGRPRPVL   RSVNSREPSQ   VIFCNRSPRV   VLPVWLNFDG   EPQPYPTLPP   50
51   GTGRRIHSYR   GHLWLFRDAG   THDGLLVNQT   ELFVPSLNVD   GQPIFANITL   100
101   PVYTLKERCL   QVVRSLVKPE   NYRRLDIVRS   LYEDLEDHPN   VQKDLERLTQ   150
151   ERIAHQRMGD           200

Variants

Residue AA Source dbSNP Clinical
Significance
Allele
Frequency
(4.7kJPN)
Disease name
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]
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]
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 - -
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 4.7kJPN
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 4.7kJPN
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 4.7kJPN
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 4.7kJPN
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]
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Reference

PiSite: a database of protein interaction sites using multiple binding states in the PDB, Miho Higurashi, Takashi Ishida and Kengo Kinoshita, Nucleic Acids Research 2009 37(Database issue):D360-D364

COPYRIGHTc2008-2019 Miho Higurashi, Takashi Ishida and Kengo Kinoshita. All rights reserved.