PDB ID 4B9K     CHAIN C
Protein name VON HIPPEL-LINDAU DISEASE TUMOR SUPPRESSOR
Uniprot Accession P40337
The number of similar proteins 99
The number of binding states 15
The number of binding partners 12

Coloring

Unicolor (beige)

The number of binding partners

Group

Binding
state		 Binding partners
4B9K (CHAIN: C)
1 Q15369   Q15370  
2 Q15369  
3 Q15369   Q13617  
4 Q15369   Q15370   P61964  
5 Q15369   Q15370   O60885  
6 Q15369   Q15370   P51531  
7 Q15369   Q15370   Q13451  
8 Q15369   Q15370   P01116  
9 Q15369   Q15370   Q16665  
10 Q15369   Q15369   Q15370  
11 P40337   Q15369   Q15370  
12 Q15369-2   Q15370   Q05397  
13 Q15369   Q15370   Q07817  
14 P40337   P40337   Q15369   Q15370  
15 P40337   Q15369   Q15369   Q15370  

Downdload

Format:

Molecule viewer


Only interaction residues
#binding
partners
  >9
  8
  7
  6
  5
  4
  3
  2
  1
  0

Sequence information

1   SMSENLYFQG   SMEAGRPRPV   LRSVNSREPS   QVIFXNRSPR   VVLPVWLNFD   50
51   GEPQPYPTLP   PGTGRRIHSY   RGHLWLFRDA   GTHDGLLVNQ   TELFVPSLNV   100
101   DGQPIFANIT   LPVYTLKERC   LQVVRSLVKP   ENYRRLDIVR   SLYEDLEDHP   150
151   NVQKDLERLT   QERIAHQRMG   D       200

Variants

Residue AA Source dbSNP Clinical
Significance
 Allele
Frequency
(> 0.0001)		 Disease name
63_LEU PRO VAR_034987 rs104893827
LP/P - Pheochromocytoma (PCC) [MIM:171300]
63_LEU ARG ClinVar
chr3:10183719 		-
Likely pathogenic - Hereditary cancer-predisposing syndrome [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162]
64_ARG PRO VAR_034988 rs104893826
LP/P - Pheochromocytoma (PCC) [MIM:171300]
64_ARG PRO ClinVar
chr3:10183722 		rs104893826
Pathogenic/Likely pathogenic - Pheochromocytoma|Hereditary cancer-predisposing syndrome|Von Hippel-Lindau syndrome|Von Hippel-Lindau syndrome [Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300,Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892]; Chuvash polycythemia|not provided [MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557|MedGen:C3661900]
64_ARG SER ClinVar
chr3:10183721 		rs1487408934
Likely pathogenic - Chuvash polycythemia [MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557]; Von Hippel-Lindau syndrome [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892]
65_SER LEU VAR_005672 rs5030826
LP/P - Von Hippel-Lindau disease (VHLD) [MIM:193300]
65_SER TRP VAR_005673 rs5030826
LP/P - Von Hippel-Lindau disease (VHLD) [MIM:193300]
65_SER ALA VAR_034989 rs869025616
LP/P - Pheochromocytoma (PCC) [MIM:171300]
65_SER TRP ClinVar
chr3:10183725 		rs5030826
Pathogenic - Von Hippel-Lindau syndrome|not provided|Hereditary cancer-predisposing syndrome|Chuvash polycythemia [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557]; Von Hippel-Lindau syndrome [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892]
65_SER LEU ClinVar
chr3:10183725 		rs5030826
Pathogenic - Cerebellar hemangioblastoma [Human Phenotype Ontology:HP:0006761,Human Phenotype Ontology:HP:0006880,MONDO:MONDO:0003901,MedGen:C1332900]; Retinal capillary hemangioma [Human Phenotype Ontology:HP:0009711,MONDO:MONDO:0003343,MedGen:C0730303]; Pancreatic cysts [Human Phenotype Ontology:HP:0001737,MedGen:C0030283]; Spinal hemangioblastoma|Von Hippel-Lindau syndrome [Human Phenotype Ontology:HP:0009713,MedGen:C4024223|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892]; Chuvash polycythemia [MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557]
65_SER ALA ClinVar
chr3:10183724 		rs869025616
Likely pathogenic - Von Hippel-Lindau syndrome [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892]
65_SER TER ClinVar
chr3:10183725 		rs5030826
Pathogenic - Von Hippel-Lindau syndrome|Chuvash polycythemia [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557]; Von Hippel-Lindau syndrome|not provided|Chuvash polycythemia [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892|MedGen:C3661900|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557]
65_SER PRO ClinVar
chr3:10183724 		rs869025616
Pathogenic - Von Hippel-Lindau syndrome [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892]
65_SER THR ClinVar
chr3:10183724 		rs869025616
Pathogenic - Chuvash polycythemia [MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557]; Von Hippel-Lindau syndrome [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892]
68_SER TRP VAR_005675 -
LP/P - Pheochromocytoma (PCC) [MIM:171300]
68_SER TER ClinVar
chr3:10183734 		rs869025617
Pathogenic - Von Hippel-Lindau syndrome|Von Hippel-Lindau syndrome [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892]; Chuvash polycythemia [MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557]
68_SER PRO ClinVar
chr3:10183733 		-
Pathogenic - Chuvash polycythemia [MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557]; Von Hippel-Lindau syndrome [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892]
70_GLU LYS VAR_005676 rs5030802
LP/P - Von Hippel-Lindau disease (VHLD) [MIM:193300]
70_GLU LYS ClinVar
chr3:10183739 		rs5030802
Pathogenic/Likely pathogenic - Von Hippel-Lindau syndrome|Hereditary cancer-predisposing syndrome|Chuvash polycythemia [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557]; Von Hippel-Lindau syndrome [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892]
70_GLU TER ClinVar
chr3:10183739 		rs5030802
Pathogenic - Hereditary cancer-predisposing syndrome|Von Hippel-Lindau syndrome|not provided [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892|MedGen:C3661900]
70_GLU GLN ClinVar
chr3:10183739 		rs5030802
Likely pathogenic - Chuvash polycythemia [MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557]; Von Hippel-Lindau syndrome [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892]
70_GLU ASP 8.3kJPN
chr3:10183741 		-
- 0.0001 -
72_SER PRO ClinVar
chr3:10183745 		rs869025618
Pathogenic/Likely pathogenic - Von Hippel-Lindau syndrome|Hereditary cancer-predisposing syndrome|Chuvash polycythemia [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557]; Von Hippel-Lindau syndrome [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892]
73_GLN TER ClinVar
chr3:10183748 		rs869025619
Pathogenic - Von Hippel-Lindau syndrome|not provided|Chuvash polycythemia [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892|MedGen:C3661900|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557]; Von Hippel-Lindau syndrome [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892]
74_VAL GLY VAR_005677 rs5030803
LP/P - Von Hippel-Lindau disease (VHLD) [MIM:193300]
74_VAL VAL ClinVar
chr3:10183753 		rs759737367
Pathogenic - Chuvash polycythemia [MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557]
74_VAL PHE ClinVar
chr3:10183751 		-
Likely pathogenic - Chuvash polycythemia [MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557]; Von Hippel-Lindau syndrome [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892]
76_PHE ILE VAR_005679 rs1559425911
LP/P - Von Hippel-Lindau disease (VHLD) [MIM:193300]
76_PHE LEU VAR_005680 -
LP/P - Von Hippel-Lindau disease (VHLD) [MIM:193300]
76_PHE SER VAR_005681 rs730882033
LP/P - Von Hippel-Lindau disease (VHLD) [MIM:193300]
76_PHE ILE ClinVar
chr3:10183757 		rs1559425911
Likely pathogenic - Hereditary cancer-predisposing syndrome [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162]
76_PHE LEU ClinVar
chr3:10183757 		-
Likely pathogenic - Hereditary cancer-predisposing syndrome [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162]
77_CYS TER ClinVar
chr3:10183762 		-
Pathogenic - Chuvash polycythemia [MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557]; Von Hippel-Lindau syndrome [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892]
78_ASN HIS VAR_005682 rs869025621
LP/P - Von Hippel-Lindau disease (VHLD) [MIM:193300]
78_ASN SER VAR_005683 rs5030804
LP/P - Von Hippel-Lindau disease (VHLD) [MIM:193300]
78_ASN THR VAR_005684 rs5030804
LP/P - Von Hippel-Lindau disease (VHLD) [MIM:193300]
78_ASN SER ClinVar
chr3:10183764 		rs5030804
Pathogenic - Von Hippel-Lindau syndrome|not provided|Chuvash polycythemia [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892|MedGen:C3661900|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557]; Von Hippel-Lindau syndrome|Hereditary cancer-predisposing syndrome [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162]
78_ASN TYR ClinVar
chr3:10183763 		rs869025621
Likely pathogenic - Von Hippel-Lindau syndrome|Hereditary cancer-predisposing syndrome [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162]
78_ASN THR ClinVar
chr3:10183764 		rs5030804
Pathogenic - Von Hippel-Lindau syndrome|not provided|Chuvash polycythemia [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892|MedGen:C3661900|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557]; Von Hippel-Lindau syndrome [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892]
78_ASN ILE ClinVar
chr3:10183764 		rs5030804
Likely pathogenic - Von Hippel-Lindau syndrome|Chuvash polycythemia [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557]; Von Hippel-Lindau syndrome [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892]
78_ASN HIS ClinVar
chr3:10183763 		rs869025621
Pathogenic - Von Hippel-Lindau syndrome [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892]
78_ASN ASP ClinVar
chr3:10183763 		rs869025621
Pathogenic/Likely pathogenic - Von Hippel-Lindau syndrome|not provided|Von Hippel-Lindau syndrome [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892|MedGen:C3661900|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892]; Chuvash polycythemia [MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557]
79_ARG PRO VAR_005685 -
LP/P - Von Hippel-Lindau disease (VHLD) [MIM:193300]
79_ARG PRO ClinVar
chr3:10183767 		-
Likely pathogenic - Hereditary cancer-predisposing syndrome [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162]
80_SER ILE VAR_005686 rs5030805
LP/P - Von Hippel-Lindau disease (VHLD) [MIM:193300]
80_SER ARG VAR_005687 rs786202787
LP/P - Von Hippel-Lindau disease (VHLD) [MIM:193300]
80_SER ASN VAR_005688 rs5030805
LP/P - Pheochromocytoma (PCC) [MIM:171300]
80_SER GLY ClinVar
chr3:10183769 		rs786202787
Pathogenic/Likely pathogenic - Hereditary cancer-predisposing syndrome|Chuvash polycythemia [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557]; Von Hippel-Lindau syndrome|Von Hippel-Lindau syndrome [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892]
80_SER ARG ClinVar
chr3:10183769 		rs786202787
Pathogenic - Von Hippel-Lindau syndrome [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892]
80_SER ILE ClinVar
chr3:10183770 		rs5030805
Pathogenic - Von Hippel-Lindau syndrome|Von Hippel-Lindau syndrome [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892]; Chuvash polycythemia [MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557]
80_SER ASN ClinVar
chr3:10183770 		rs5030805
Pathogenic - Von Hippel-Lindau syndrome [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892]; Chuvash polycythemia [MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557]
81_PRO SER VAR_005689 rs104893829
LP/P - Von Hippel-Lindau disease (VHLD) [MIM:193300]
81_PRO LEU ClinVar
chr3:10183773 		rs193922608
Pathogenic/Likely pathogenic - Von Hippel-Lindau syndrome|Hereditary cancer-predisposing syndrome|Chuvash polycythemia [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557]; Von Hippel-Lindau syndrome|not provided|Chuvash polycythemia [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892|MedGen:C3661900|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557]
81_PRO SER gnomAD
chr3:10183772 		rs104893829
- 0.000199837 -
82_ARG PRO VAR_005690 rs794726890
LP/P - Von Hippel-Lindau disease (VHLD) [MIM:193300]
82_ARG PRO ClinVar
chr3:10183776 		rs794726890
Pathogenic - Von Hippel-Lindau syndrome|not provided [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892|MedGen:CN517202]
82_ARG LEU ClinVar
chr3:10183776 		rs794726890
Pathogenic/Likely pathogenic - Chuvash polycythemia [MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557]; Von Hippel-Lindau syndrome|Von Hippel-Lindau syndrome|Hereditary cancer-predisposing syndrome [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162]
82_ARG GLY ClinVar
chr3:10183775 		rs1214305423
Pathogenic - Von Hippel-Lindau syndrome|Von Hippel-Lindau syndrome [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892]; Chuvash polycythemia [MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557]
84_VAL LEU VAR_005692 rs5030827
LP/P - Von Hippel-Lindau disease (VHLD) [MIM:193300]
84_VAL LEU ClinVar
chr3:10183781 		rs5030827
Pathogenic - Von Hippel-Lindau syndrome|Von Hippel-Lindau syndrome [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892]; Chuvash polycythemia|Hereditary cancer-predisposing syndrome [MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162]
84_VAL LEU ClinVar
chr3:10183781 		rs5030827
Pathogenic - Hereditary cancer-predisposing syndrome|Von Hippel-Lindau syndrome|Chuvash polycythemia [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557]; Von Hippel-Lindau syndrome [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892]
84_VAL GLU ClinVar
chr3:10183782 		-
Likely pathogenic - Hereditary cancer-predisposing syndrome [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162]
86_PRO ALA VAR_005693 rs398123481
LP/P - Von Hippel-Lindau disease (VHLD) [MIM:193300]
86_PRO LEU VAR_005694 rs730882034
LP/P - Von Hippel-Lindau disease (VHLD) [MIM:193300]
86_PRO ARG VAR_005695 rs730882034
LP/P - Von Hippel-Lindau disease (VHLD) [MIM:193300]
86_PRO SER VAR_005696 rs398123481
LP/P - Von Hippel-Lindau disease (VHLD) [MIM:193300]
86_PRO HIS VAR_008097 -
LP/P - Von Hippel-Lindau disease (VHLD) [MIM:193300]
86_PRO ALA ClinVar
chr3:10183787 		rs398123481
Pathogenic/Likely pathogenic - Von Hippel-Lindau syndrome|not provided|Chuvash polycythemia [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892|MedGen:C3661900|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557]; Von Hippel-Lindau syndrome [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892]
86_PRO SER ClinVar
chr3:10183787 		rs398123481
Pathogenic/Likely pathogenic - Von Hippel-Lindau syndrome|not provided|Hereditary cancer-predisposing syndrome|Chuvash polycythemia [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557]; Von Hippel-Lindau syndrome [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892]
86_PRO LEU ClinVar
chr3:10183788 		rs730882034
Pathogenic - Von Hippel-Lindau syndrome|Hereditary cancer-predisposing syndrome|Von Hippel-Lindau syndrome [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892]; Chuvash polycythemia [MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557]
86_PRO ARG ClinVar
chr3:10183788 		rs730882034
Pathogenic/Likely pathogenic - Von Hippel-Lindau syndrome|Chuvash polycythemia [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557]; Von Hippel-Lindau syndrome|Hereditary cancer-predisposing syndrome|not provided [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:C3661900]
88_TRP ARG VAR_005697 rs1553619431
LP/P - Von Hippel-Lindau disease (VHLD) [MIM:193300]
88_TRP SER VAR_005698 rs119103277
LP/P - Von Hippel-Lindau disease (VHLD) [MIM:193300]
88_TRP SER ClinVar
chr3:10183794 		rs119103277
Pathogenic - Von Hippel-Lindau syndrome [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892]
88_TRP TER ClinVar
chr3:10183794 		rs119103277
Pathogenic - not provided|Von Hippel-Lindau syndrome|Hereditary cancer-predisposing syndrome|Von Hippel-Lindau syndrome [MedGen:C3661900|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892]; Chuvash polycythemia [MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557]
88_TRP CYS ClinVar
chr3:10183795 		rs869025622
Pathogenic/Likely pathogenic - Von Hippel-Lindau syndrome|Hereditary cancer-predisposing syndrome|Von Hippel-Lindau syndrome [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892]; Chuvash polycythemia [MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557]
88_TRP ARG ClinVar
chr3:10183793 		rs1553619431
Pathogenic - Von Hippel-Lindau syndrome|Von Hippel-Lindau syndrome [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892]; Chuvash polycythemia|not provided|Hereditary cancer-predisposing syndrome|Chuvash polycythemia [MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557]
88_TRP ARG ClinVar
chr3:10183793 		rs1553619431
Pathogenic - Von Hippel-Lindau syndrome|Chuvash polycythemia [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557]; Von Hippel-Lindau syndrome [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892]
88_TRP CYS ClinVar
chr3:10183795 		rs869025622
Pathogenic - Chuvash polycythemia [MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557]; Von Hippel-Lindau syndrome [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892]
88_TRP TER ClinVar
chr3:10183795 		rs869025622
Pathogenic - Von Hippel-Lindau syndrome [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892]; Chuvash polycythemia|Hereditary cancer-predisposing syndrome [MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162]
89_LEU HIS VAR_005699 rs5030807
US - Lung cancer
89_LEU PRO VAR_005700 rs5030807
LP/P - Von Hippel-Lindau disease (VHLD) [MIM:193300]
89_LEU PRO ClinVar
chr3:10183797 		rs5030807
Pathogenic/Likely pathogenic - Hereditary cancer-predisposing syndrome|Von Hippel-Lindau syndrome|Von Hippel-Lindau syndrome [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892]; Chuvash polycythemia [MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557]
89_LEU HIS ClinVar
chr3:10183797 		rs5030807
Likely pathogenic - Papillary renal cell carcinoma type 1 [Human Phenotype Ontology:HP:0011797,MedGen:C1336839,OMIM:605074,Orphanet:47044]
90_ASN ILE ClinVar
chr3:10183800 		rs143985153
Likely pathogenic - Von Hippel-Lindau syndrome|Hereditary cancer-predisposing syndrome [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162]
91_PHE LEU VAR_005701 rs1060503563
LB/B - -
92_ASP TYR 8.3kJPN
chr3:10183805 		rs587780731
- 0.0001 -
93_GLY CYS VAR_005703 rs5030808
LP/P - Pheochromocytoma (PCC) [MIM:171300]
93_GLY ASP VAR_005704 rs1553619440
LP/P - Von Hippel-Lindau disease (VHLD) [MIM:193300]
93_GLY SER VAR_005705 rs5030808
LP/P - Pheochromocytoma (PCC) [MIM:171300]
93_GLY SER ClinVar
chr3:10183808 		rs5030808
Pathogenic - Pheochromocytoma|Von Hippel-Lindau syndrome|Von Hippel-Lindau syndrome [Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300,Orphanet:29072|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892]; Chuvash polycythemia|Hereditary cancer-predisposing syndrome|Chuvash polycythemia [MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557]
93_GLY ARG ClinVar
chr3:10183808 		rs5030808
Likely pathogenic - Von Hippel-Lindau syndrome|Von Hippel-Lindau syndrome [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892]; Chuvash polycythemia|Hereditary cancer-predisposing syndrome [MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162]
93_GLY CYS ClinVar
chr3:10183808 		rs5030808
Pathogenic - Von Hippel-Lindau syndrome [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892]
93_GLY ASP ClinVar
chr3:10183809 		rs1553619440
Pathogenic - Von Hippel-Lindau syndrome|Chuvash polycythemia [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557]; Von Hippel-Lindau syndrome [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892]
94_GLU TER ClinVar
chr3:10183811 		rs5030829
Pathogenic - Hereditary cancer-predisposing syndrome|Von Hippel-Lindau syndrome|Chuvash polycythemia [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557]; Von Hippel-Lindau syndrome [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892]
95_PRO ARG ClinVar
chr3:10183815 		rs964996401
Likely pathogenic - Von Hippel-Lindau syndrome [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892]
96_GLN PRO VAR_005706 rs1559426089
LP/P - Von Hippel-Lindau disease (VHLD) [MIM:193300]
96_GLN TER ClinVar
chr3:10183817 		rs1131690959
Pathogenic - Hereditary cancer-predisposing syndrome [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162]
98_TYR HIS VAR_005707 rs5030809
LP/P - Pheochromocytoma (PCC) [MIM:171300]
98_TYR HIS ClinVar
chr3:10183823 		rs5030809
Pathogenic - Von Hippel-Lindau syndrome|Hereditary cancer-predisposing syndrome|not provided|Von Hippel-Lindau syndrome [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:C3661900|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892]; Chuvash polycythemia [MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557]
98_TYR SER ClinVar
chr3:10183824 		rs864321643
Pathogenic/Likely pathogenic - Pheochromocytoma|Von Hippel-Lindau syndrome|Chuvash polycythemia [Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300,Orphanet:29072|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557]; Von Hippel-Lindau syndrome|Hereditary cancer-predisposing syndrome [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162]
98_TYR CYS ClinVar
chr3:10183824 		rs864321643
Pathogenic - Von Hippel-Lindau syndrome|Chuvash polycythemia [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557]; Von Hippel-Lindau syndrome|not provided [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892|MedGen:C3661900]
98_TYR TER ClinVar
chr3:10183825 		rs1559426115
Pathogenic - Von Hippel-Lindau syndrome [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892]
98_TYR ASN ClinVar
chr3:10183823 		-
Pathogenic - Von Hippel-Lindau syndrome [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892]
100_THR ALA 8.3kJPN
chr3:10183829 		rs745901803
- 0.0001 -
101_LEU GLY VAR_005708 -
LP/P - Von Hippel-Lindau disease (VHLD) [MIM:193300]
101_LEU ARG VAR_005709 -
LP/P - Von Hippel-Lindau disease (VHLD) [MIM:193300]
101_LEU PRO ClinVar
chr3:10183833 		rs1553619456
Likely pathogenic - Hereditary cancer-predisposing syndrome|Von Hippel-Lindau syndrome [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892]; Chuvash polycythemia [MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557]
101_LEU GLN ClinVar
chr3:10183833 		-
Likely pathogenic - Hereditary cancer-predisposing syndrome [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162]
101_LEU ARG ClinVar
chr3:10183833 		-
Likely pathogenic - Hereditary cancer-predisposing syndrome|Von Hippel-Lindau syndrome [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892]
104_GLY ALA VAR_005710 rs869025630
LB/B - -
105_THR PRO VAR_005711 rs1553619461
LP/P - Von Hippel-Lindau disease (VHLD) [MIM:193300]
105_THR PRO ClinVar
chr3:10183844 		rs1553619461
Pathogenic - Von Hippel-Lindau syndrome [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892]
106_GLY ASP VAR_005712 rs1446876735
US - Lung cancer
107_ARG PRO VAR_005713 rs193922609
LP/P - Von Hippel-Lindau disease (VHLD) [MIM:193300]
107_ARG GLY VAR_034991 rs397516440
LP/P - Pheochromocytoma (PCC) [MIM:171300]
107_ARG PRO ClinVar
chr3:10183851 		rs193922609
Pathogenic/Likely pathogenic - Von Hippel-Lindau syndrome|Chuvash polycythemia [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557]; Von Hippel-Lindau syndrome|not provided|Hereditary cancer-predisposing syndrome [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162]
107_ARG GLY ClinVar
chr3:10183850 		rs397516440
Pathogenic/Likely pathogenic - Von Hippel-Lindau syndrome|Von Hippel-Lindau syndrome [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892]; Nonpapillary renal cell carcinoma [MONDO:MONDO:0007763,MedGen:CN074294,OMIM:144700,Orphanet:422526]; Chuvash polycythemia [MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557]; Pheochromocytoma|Hereditary cancer-predisposing syndrome [Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300,Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162]
107_ARG HIS ClinVar
chr3:10183851 		rs193922609
Pathogenic - Von Hippel-Lindau syndrome|Hereditary cancer-predisposing syndrome|Von Hippel-Lindau syndrome [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892]; Chuvash polycythemia [MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557]
107_ARG SER ClinVar
chr3:10183850 		-
Pathogenic - Chuvash polycythemia [MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557]; Von Hippel-Lindau syndrome [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892]
110_HIS TYR VAR_055087 rs17855706
LB/B - -
111_SER CYS VAR_005714 rs1559426203
LP/P - Von Hippel-Lindau disease (VHLD) [MIM:193300]
111_SER ASN VAR_005715 rs869025631
LP/P - Von Hippel-Lindau disease (VHLD) [MIM:193300]
111_SER ARG VAR_005716 rs765978945
LP/P - Von Hippel-Lindau disease (VHLD) [MIM:193300]
111_SER ASN ClinVar
chr3:10183863 		rs869025631
Pathogenic - Von Hippel-Lindau syndrome|Hereditary cancer-predisposing syndrome|Von Hippel-Lindau syndrome [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892]; Chuvash polycythemia [MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557]
111_SER ARG ClinVar
chr3:10183864 		rs765978945
Pathogenic - Von Hippel-Lindau syndrome|Hereditary cancer-predisposing syndrome|Chuvash polycythemia [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557]; Von Hippel-Lindau syndrome [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892]
111_SER CYS ClinVar
chr3:10183862 		rs1559426203
Pathogenic - Von Hippel-Lindau syndrome [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892]; Chuvash polycythemia [MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557]
111_SER GLY ClinVar
chr3:10183862 		rs1559426203
Pathogenic - Von Hippel-Lindau syndrome|Chuvash polycythemia [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557]; Von Hippel-Lindau syndrome [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892]
111_SER ARG ClinVar
chr3:10183862 		-
Pathogenic - Von Hippel-Lindau syndrome [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892]
112_TYR HIS VAR_005717 rs104893824
LP/P - Von Hippel-Lindau disease (VHLD) [MIM:193300]
112_TYR ASN VAR_034992 rs104893824
LP/P - Von Hippel-Lindau disease (VHLD) [MIM:193300]
112_TYR HIS ClinVar
chr3:10183865 		rs104893824
Pathogenic - Von Hippel-Lindau syndrome|Von Hippel-Lindau syndrome [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892]; Chuvash polycythemia|Hereditary cancer-predisposing syndrome|VHL-related condition [MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|]
112_TYR ASN ClinVar
chr3:10183865 		rs104893824
Pathogenic - Von Hippel-Lindau syndrome [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892]
112_TYR TER ClinVar
chr3:10183867 		rs751232153
Pathogenic/Likely pathogenic - Von Hippel-Lindau syndrome|Von Hippel-Lindau syndrome [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892]; Chuvash polycythemia|Hereditary cancer-predisposing syndrome [MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162]
113_ARG TER ClinVar
chr3:10183868 		rs5030810
Pathogenic - Von Hippel-Lindau syndrome|Von Hippel-Lindau syndrome [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892]; Chuvash polycythemia|Hereditary cancer-predisposing syndrome [MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162]
114_GLY CYS VAR_005718 -
LP/P - Von Hippel-Lindau disease (VHLD) [MIM:193300]
114_GLY ARG VAR_005719 rs869025636
LP/P - Von Hippel-Lindau disease (VHLD) [MIM:193300]
114_GLY SER VAR_005720 rs869025636
LP/P - Von Hippel-Lindau disease (VHLD) [MIM:193300]
114_GLY ARG ClinVar
chr3:10183871 		rs869025636
Pathogenic - Von Hippel-Lindau syndrome|Chuvash polycythemia [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557]; Von Hippel-Lindau syndrome [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892]
114_GLY SER ClinVar
chr3:10183871 		rs869025636
Pathogenic - Chuvash polycythemia [MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557]; Von Hippel-Lindau syndrome|Hereditary cancer-predisposing syndrome [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162]
115_HIS TYR VAR_005722 rs5030811
LP/P - Von Hippel-Lindau disease (VHLD) [MIM:193300]
115_HIS GLN VAR_005723 rs864622646
LP/P - Von Hippel-Lindau disease (VHLD) [MIM:193300]
115_HIS ARG VAR_008098 rs5030812
LP/P - Von Hippel-Lindau disease (VHLD) [MIM:193300]
115_HIS GLN ClinVar
chr3:10188202 		rs864622646
Pathogenic/Likely pathogenic - Von Hippel-Lindau syndrome|Chuvash polycythemia [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557]; Von Hippel-Lindau syndrome [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892]
115_HIS PRO ClinVar
chr3:10188201 		rs5030812
Likely pathogenic - not provided|Hereditary cancer-predisposing syndrome [MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162]
115_HIS ARG ClinVar
chr3:10188201 		rs5030812
Pathogenic - Chuvash polycythemia [MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557]; Von Hippel-Lindau syndrome|Hereditary cancer-predisposing syndrome [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162]
115_HIS TYR ClinVar
chr3:10188200 		-
Pathogenic - Hereditary cancer-predisposing syndrome [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162]
116_LEU VAL VAR_005724 -
LP/P - Von Hippel-Lindau disease (VHLD) [MIM:193300]
117_TRP CYS VAR_005725 rs727504215
LP/P - Von Hippel-Lindau disease (VHLD) [MIM:193300]
117_TRP CYS ClinVar
chr3:10188208 		rs727504215
Pathogenic - Von Hippel-Lindau syndrome|not provided|Hereditary cancer-predisposing syndrome [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162]
117_TRP TER ClinVar
chr3:10188207 		rs1559428056
Pathogenic - Von Hippel-Lindau syndrome [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892]
117_TRP GLY ClinVar
chr3:10188206 		rs1696261074
Pathogenic - Chuvash polycythemia [MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557]; Von Hippel-Lindau syndrome [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892]
117_TRP ARG ClinVar
chr3:10188206 		-
Pathogenic - Von Hippel-Lindau syndrome [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892]; Chuvash polycythemia [MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557]
117_TRP TER ClinVar
chr3:10188208 		-
Likely pathogenic - not provided [MedGen:C3661900]
117_TRP SER ClinVar
chr3:10188207 		-
Likely pathogenic - Chuvash polycythemia [MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557]; Von Hippel-Lindau syndrome [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892]
118_LEU PRO VAR_005726 rs5030830
LP/P - Von Hippel-Lindau disease (VHLD) [MIM:193300]
118_LEU ARG VAR_005727 rs5030830
LP/P - Von Hippel-Lindau disease (VHLD) [MIM:193300]
118_LEU PRO ClinVar
chr3:10188210 		rs5030830
Pathogenic - Hereditary cancer-predisposing syndrome|Chuvash polycythemia [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557]; Von Hippel-Lindau syndrome|not provided [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892|MedGen:C3661900]
118_LEU ARG ClinVar
chr3:10188210 		rs5030830
Pathogenic - Hereditary cancer-predisposing syndrome|Von Hippel-Lindau syndrome [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892]
119_PHE LEU VAR_005728 rs1553619948
LP/P - Pheochromocytoma (PCC) [MIM:171300]
119_PHE SER VAR_005729 -
LP/P - Von Hippel-Lindau disease (VHLD) [MIM:193300]
119_PHE LEU ClinVar
chr3:10188212 		rs1553619948
Pathogenic - Von Hippel-Lindau syndrome|Chuvash polycythemia [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557]; Von Hippel-Lindau syndrome|Hereditary cancer-predisposing syndrome [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162]
119_PHE LEU ClinVar
chr3:10188214 		rs1559428077
Pathogenic - Von Hippel-Lindau syndrome|Von Hippel-Lindau syndrome [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892]; Chuvash polycythemia|Hereditary cancer-predisposing syndrome [MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162]
119_PHE LEU ClinVar
chr3:10188214 		-
Likely pathogenic - Hereditary cancer-predisposing syndrome [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162]
120_ARG GLY ClinVar
chr3:10188215 		rs869025642
Likely pathogenic - Von Hippel-Lindau syndrome|Chuvash polycythemia [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557]; Von Hippel-Lindau syndrome|not provided [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892|MedGen:C3661900]
121_ASP GLY VAR_005730 rs5030832
LP/P - Von Hippel-Lindau disease (VHLD) [MIM:193300]
121_ASP GLY ClinVar
chr3:10188219 		rs5030832
Pathogenic/Likely pathogenic - Von Hippel-Lindau syndrome|not provided|Chuvash polycythemia [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892|MedGen:C3661900|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557]; Von Hippel-Lindau syndrome [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892]
121_ASP VAL ClinVar
chr3:10188219 		rs5030832
Likely pathogenic - Chuvash polycythemia [MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557]; Von Hippel-Lindau syndrome [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892]
121_ASP ASN ClinVar
chr3:10188218 		-
Pathogenic - Chuvash polycythemia [MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557]; Von Hippel-Lindau syndrome [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892]
122_ALA ILE VAR_034993 -
LP/P - Pheochromocytoma (PCC) [MIM:171300]
124_THR ILE ClinVar
chr3:10188228 		rs193922610
Likely pathogenic - Von Hippel-Lindau syndrome|not provided [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892|MedGen:C3661900]
125_HIS PRO ClinVar
chr3:10188231 		rs869025643
Pathogenic - Von Hippel-Lindau syndrome [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892]
126_ASP TYR VAR_034994 rs104893831
LP/P - Erythrocytosis, familial, 2 (ECYT2) [MIM:263400]
126_ASP TYR ClinVar
chr3:10188233 		rs104893831
Likely pathogenic - Chuvash polycythemia|Von Hippel-Lindau syndrome [MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892]; Chuvash polycythemia [MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557]
128_LEU PHE VAR_005731 rs1553619956
LP/P - Von Hippel-Lindau disease (VHLD) [MIM:193300]
128_LEU PRO ClinVar
chr3:10188240 		rs2125128327
Pathogenic/Likely pathogenic - not provided|Hereditary cancer-predisposing syndrome|Von Hippel-Lindau syndrome|Chuvash polycythemia [MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557]; Von Hippel-Lindau syndrome [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892]
129_LEU VAL 8.3kJPN
chr3:10188242 		rs369018004
- 0.0002 -
130_VAL LEU VAR_005733 rs104893830
LP/P - Erythrocytosis, familial, 2 (ECYT2) [MIM:263400]
130_VAL LEU ClinVar
chr3:10188245 		rs104893830
Pathogenic - Chuvash polycythemia|Von Hippel-Lindau syndrome|Hereditary cancer-predisposing syndrome|Von Hippel-Lindau syndrome [MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892]; Chuvash polycythemia [MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557]
131_ASN LYS VAR_005734 rs1064794272
LP/P - Von Hippel-Lindau disease (VHLD) [MIM:193300]
131_ASN THR VAR_005735 -
LP/P - Von Hippel-Lindau disease (VHLD) [MIM:193300]
131_ASN SER ClinVar
chr3:10188249 		rs1553619963
Pathogenic/Likely pathogenic - Von Hippel-Lindau syndrome|not provided|Chuvash polycythemia [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892|MedGen:C3661900|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557]; Von Hippel-Lindau syndrome [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892]
131_ASN TYR ClinVar
chr3:10188248 		rs2125128340
Likely pathogenic - Chuvash polycythemia [MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557]; Von Hippel-Lindau syndrome [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892]
132_GLN TER ClinVar
chr3:10188251 		rs5030813
Pathogenic - not provided|Von Hippel-Lindau syndrome|Chuvash polycythemia [MedGen:C3661900|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557]; Von Hippel-Lindau syndrome [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892]
132_GLN PRO ClinVar
chr3:10188252 		rs1347416980
Pathogenic/Likely pathogenic - Von Hippel-Lindau syndrome|Hereditary cancer-predisposing syndrome [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162]
133_THR PRO ClinVar
chr3:10188254 		rs1131690961
Likely pathogenic - Hereditary cancer-predisposing syndrome [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162]
134_GLU TER ClinVar
chr3:10188257 		rs2125128363
Pathogenic - Von Hippel-Lindau syndrome [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892]; Chuvash polycythemia [MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557]
135_LEU PHE VAR_034995 rs119103278
LB/B - -
135_LEU PHE ClinVar
chr3:10188262 		rs119103278
Pathogenic - Von Hippel-Lindau syndrome [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892]
136_PHE SER VAR_005736 rs5030833
LP/P - Von Hippel-Lindau disease (VHLD) [MIM:193300]
136_PHE CYS VAR_005737 rs5030833
LP/P - Pheochromocytoma (PCC) [MIM:171300]
136_PHE TYR VAR_008099 -
LP/P - Von Hippel-Lindau disease (VHLD) [MIM:193300]
136_PHE SER ClinVar
chr3:10188264 		rs5030833
Pathogenic/Likely pathogenic - Von Hippel-Lindau syndrome|not provided|Chuvash polycythemia [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892|MedGen:C3661900|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557]; Von Hippel-Lindau syndrome [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892]
138_PRO PRO ClinVar
chr3:10188271 		rs869025648
Pathogenic - Von Hippel-Lindau syndrome|Hereditary cancer-predisposing syndrome|Chuvash polycythemia [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557]; Von Hippel-Lindau syndrome|not provided [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892|MedGen:C3661900]
145_GLN HIS VAR_008100 rs771727849
LP/P - Von Hippel-Lindau disease (VHLD) [MIM:193300]
145_GLN TER ClinVar
chr3:10188290 		rs749704215
Pathogenic - Von Hippel-Lindau syndrome [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892]
147_ILE THR VAR_034996 rs1060503555
LP/P - Pheochromocytoma (PCC) [MIM:171300]
149_ALA THR VAR_005740 rs587780077
LP/P - Von Hippel-Lindau disease (VHLD) [MIM:193300]
149_ALA SER ClinVar
chr3:10188302 		rs587780077
Pathogenic - not provided|Von Hippel-Lindau syndrome|Hereditary cancer-predisposing syndrome|Chuvash polycythemia [MedGen:C3661900|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557]; Von Hippel-Lindau syndrome [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892]
149_ALA THR ClinVar
chr3:10188302 		rs587780077
Pathogenic - Von Hippel-Lindau syndrome|Hereditary cancer-predisposing syndrome [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162]
149_ALA PRO ClinVar
chr3:10188302 		rs587780077
Pathogenic - Von Hippel-Lindau syndrome|Chuvash polycythemia [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557]; Von Hippel-Lindau syndrome [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892]
149_ALA VAL ClinVar
chr3:10188303 		rs1696266503
Likely pathogenic - Von Hippel-Lindau syndrome [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892]; Chuvash polycythemia [MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557]
151_ILE SER ClinVar
chr3:10188309 		rs869025655
Pathogenic - Von Hippel-Lindau syndrome [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892]
151_ILE THR ClinVar
chr3:10188309 		rs869025655
Pathogenic - Hereditary cancer-predisposing syndrome|Von Hippel-Lindau syndrome|Chuvash polycythemia [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557]; Von Hippel-Lindau syndrome|Neoplasm [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892|Human Phenotype Ontology:HP:0002664,Human Phenotype Ontology:HP:0003008,Human Phenotype Ontology:HP:0006741,MONDO:MONDO:0005070,MeSH:D009369,MedGen:C0027651]
154_PRO LEU VAR_005741 rs1399097617
LP/P - Von Hippel-Lindau disease (VHLD) [MIM:193300]
154_PRO SER ClinVar
chr3:10188317 		rs1553619993
Pathogenic/Likely pathogenic - Hereditary cancer-predisposing syndrome|Chuvash polycythemia [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557]; Von Hippel-Lindau syndrome|Von Hippel-Lindau syndrome|Chuvash polycythemia [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557]
154_PRO ALA ClinVar
chr3:10188317 		rs1553619993
Likely pathogenic - Chuvash polycythemia [MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557]; Von Hippel-Lindau syndrome [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892]
154_PRO LEU ClinVar
chr3:10188318 		rs1399097617
Pathogenic - Chuvash polycythemia [MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557]; Von Hippel-Lindau syndrome|Hereditary cancer-predisposing syndrome [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162]
154_PRO THR ClinVar
chr3:10188317 		-
Likely pathogenic - Chuvash polycythemia [MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557]; Von Hippel-Lindau syndrome [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892]
155_VAL GLY VAR_005742 -
LP/P - Von Hippel-Lindau disease (VHLD) [MIM:193300]
155_VAL MET VAR_008101 rs869025659
LP/P - Von Hippel-Lindau disease (VHLD) [MIM:193300]
155_VAL MET ClinVar
chr3:10188320 		rs869025659
Pathogenic - Von Hippel-Lindau syndrome|Von Hippel-Lindau syndrome [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892]; Chuvash polycythemia [MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557]
155_VAL LEU ClinVar
chr3:10188320 		rs869025659
Likely pathogenic - Hereditary cancer-predisposing syndrome [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162]
155_VAL GLY ClinVar
chr3:10191471 		-
Likely pathogenic - Chuvash polycythemia [MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557]; Von Hippel-Lindau syndrome [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892]
156_TYR CYS VAR_005743 rs397516441
LP/P - Pheochromocytoma (PCC) [MIM:171300]
156_TYR ASP VAR_005744 -
LP/P - Von Hippel-Lindau disease (VHLD) [MIM:193300]
156_TYR ASN VAR_034997 -
LP/P - Pheochromocytoma (PCC) [MIM:171300]
156_TYR CYS ClinVar
chr3:10191474 		rs397516441
Pathogenic - Von Hippel-Lindau syndrome|not provided|Hereditary cancer-predisposing syndrome|Chuvash polycythemia [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557]; Von Hippel-Lindau syndrome [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892]
157_THR ILE VAR_005746 rs869025660
LP/P - Von Hippel-Lindau disease (VHLD) [MIM:193300]
157_THR ILE ClinVar
chr3:10191477 		rs869025660
Pathogenic - Von Hippel-Lindau syndrome|not provided [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892|MedGen:CN517202]
158_LEU PRO VAR_005748 rs121913346
LP/P - Von Hippel-Lindau disease (VHLD) [MIM:193300]
158_LEU VAL VAR_005749 rs1559429613
LP/P - Von Hippel-Lindau disease (VHLD) [MIM:193300]
158_LEU PRO ClinVar
chr3:10191480 		rs121913346
Pathogenic - not provided|Von Hippel-Lindau syndrome|Hereditary cancer-predisposing syndrome|Von Hippel-Lindau syndrome [MedGen:C3661900|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892]; Chuvash polycythemia [MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557]
158_LEU GLN ClinVar
chr3:10191480 		rs121913346
Likely pathogenic - Papillary renal cell carcinoma type 1 [Human Phenotype Ontology:HP:0011797,MedGen:C1336839,OMIM:605074,Orphanet:47044]
158_LEU VAL ClinVar
chr3:10191479 		rs1559429613
Pathogenic - Chuvash polycythemia [MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557]; Von Hippel-Lindau syndrome|not provided|Hereditary cancer-predisposing syndrome [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162]
159_LYS GLU VAR_005750 rs1575932011
LP/P - Von Hippel-Lindau disease (VHLD) [MIM:193300]
159_LYS GLU ClinVar
chr3:10191482 		rs1575932011
Likely pathogenic - Hereditary cancer-predisposing syndrome [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162]
159_LYS TER ClinVar
chr3:10191482 		rs1575932011
Pathogenic - Chuvash polycythemia [MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557]; Von Hippel-Lindau syndrome|Von Hippel-Lindau syndrome [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892]
160_GLU VAL ClinVar
chr3:10191486 		rs864321641
Likely pathogenic - Pheochromocytoma [Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300,Orphanet:29072]
161_ARG GLN VAR_005751 rs730882035
LP/P - Pheochromocytoma (PCC) [MIM:171300]
161_ARG PRO VAR_005752 -
LP/P - Pheochromocytoma (PCC) [MIM:171300]
161_ARG GLY VAR_005753 rs5030818
LP/P - Von Hippel-Lindau disease (VHLD) [MIM:193300]
161_ARG TER ClinVar
chr3:10191488 		rs5030818
Pathogenic - Von Hippel-Lindau syndrome|not provided|Papillary renal cell carcinoma type 1|Hereditary cancer-predisposing syndrome|Von Hippel-Lindau syndrome [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892|MedGen:C3661900|Human Phenotype Ontology:HP:0011797,MedGen:C1336839,OMIM:605074,Orphanet:47044|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892]; Chuvash polycythemia|Familial infantile myasthenia [MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557|MONDO:MONDO:0009689,MedGen:C0393929,OMIM:254210,Orphanet:590]
161_ARG GLN ClinVar
chr3:10191489 		rs730882035
Pathogenic - not provided|Von Hippel-Lindau syndrome|Von Hippel-Lindau syndrome [MedGen:C3661900|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892]; Chuvash polycythemia|Hereditary cancer-predisposing syndrome [MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162]
161_ARG GLY ClinVar
chr3:10191488 		rs5030818
Pathogenic - not provided|Von Hippel-Lindau syndrome [MedGen:C3661900|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892]; Chuvash polycythemia|Hereditary cancer-predisposing syndrome [MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162]
161_ARG PRO ClinVar
chr3:10191489 		-
Pathogenic - Hereditary cancer-predisposing syndrome [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162]
162_CYS PHE VAR_005754 rs397516444
LP/P - Von Hippel-Lindau disease (VHLD) [MIM:193300]
162_CYS ARG VAR_005755 rs1553620313
LP/P - Von Hippel-Lindau disease (VHLD) [MIM:193300]
162_CYS TRP VAR_005756 rs5030622
LP/P - Von Hippel-Lindau disease (VHLD) [MIM:193300]
162_CYS TYR VAR_005757 rs397516444
LP/P - Von Hippel-Lindau disease (VHLD) [MIM:193300]
162_CYS PHE ClinVar
chr3:10191492 		rs397516444
Pathogenic - Von Hippel-Lindau syndrome|Chuvash polycythemia [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557]; Von Hippel-Lindau syndrome [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892]
162_CYS TYR ClinVar
chr3:10191492 		rs397516444
Likely pathogenic - Von Hippel-Lindau syndrome|Hereditary cancer-predisposing syndrome [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162]
162_CYS TER ClinVar
chr3:10191493 		rs5030622
Pathogenic - Von Hippel-Lindau syndrome|Chuvash polycythemia [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557]; Von Hippel-Lindau syndrome|Hereditary cancer-predisposing syndrome [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162]
162_CYS TRP ClinVar
chr3:10191493 		rs5030622
Pathogenic - Von Hippel-Lindau syndrome|Chuvash polycythemia [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557]; Von Hippel-Lindau syndrome|Hereditary cancer-predisposing syndrome|not provided [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:C3661900]
162_CYS ARG ClinVar
chr3:10191491 		rs1553620313
Pathogenic - Von Hippel-Lindau syndrome|Chuvash polycythemia [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557]; Von Hippel-Lindau syndrome [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892]
163_LEU PRO VAR_034998 rs28940297
LP/P - Renal cell carcinoma (RCC) [MIM:144700]
163_LEU PRO ClinVar
chr3:10191495 		rs28940297
Likely pathogenic - Renal cell carcinoma with paraneoplastic erythrocytosis|Von Hippel-Lindau syndrome [MedGen:C4017161|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892]; Chuvash polycythemia|Hereditary cancer-predisposing syndrome [MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162]
163_LEU ARG ClinVar
chr3:10191495 		rs28940297
Pathogenic - Chuvash polycythemia [MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557]; Von Hippel-Lindau syndrome [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892]
164_GLN ARG VAR_005758 rs267607170
LP/P - Von Hippel-Lindau disease (VHLD) [MIM:193300]
164_GLN HIS VAR_008102 rs1352275281
LP/P - Von Hippel-Lindau disease (VHLD) [MIM:193300]
164_GLN ARG ClinVar
chr3:10191498 		rs267607170
Pathogenic - Von Hippel-Lindau syndrome|Hereditary cancer-predisposing syndrome|Von Hippel-Lindau syndrome [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892]; Chuvash polycythemia [MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557]
164_GLN TER ClinVar
chr3:10191497 		rs5030819
Pathogenic - Von Hippel-Lindau syndrome|not provided|Chuvash polycythemia [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892|MedGen:C3661900|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557]; Von Hippel-Lindau syndrome|Hereditary cancer-predisposing syndrome [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162]
164_GLN HIS ClinVar
chr3:10191499 		rs1352275281
Pathogenic/Likely pathogenic - Von Hippel-Lindau syndrome [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892]; Chuvash polycythemia|not provided|Hereditary cancer-predisposing syndrome|Von Hippel-Lindau syndrome [MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892]
164_GLN HIS ClinVar
chr3:10191499 		rs1352275281
Pathogenic/Likely pathogenic - not provided|Hereditary cancer-predisposing syndrome|Von Hippel-Lindau syndrome [MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892]; Chuvash polycythemia [MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557]
166_VAL PHE VAR_005759 rs104893825
LP/P - Von Hippel-Lindau disease (VHLD) [MIM:193300]
166_VAL ASP VAR_008103 rs397516445
LP/P - Von Hippel-Lindau disease (VHLD) [MIM:193300]
166_VAL PHE ClinVar
chr3:10191503 		rs104893825
Pathogenic - Von Hippel-Lindau syndrome|Hereditary cancer-predisposing syndrome|Von Hippel-Lindau syndrome [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892]; Chuvash polycythemia|not provided [MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557|MedGen:C3661900]
166_VAL ALA ClinVar
chr3:10191504 		rs397516445
Pathogenic/Likely pathogenic - Von Hippel-Lindau syndrome|Hereditary cancer-predisposing syndrome|not provided [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:C3661900]
166_VAL ASP ClinVar
chr3:10191504 		rs397516445
Pathogenic - Von Hippel-Lindau syndrome [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892]
167_ARG GLY VAR_005760 rs5030820
LP/P - Von Hippel-Lindau disease (VHLD) [MIM:193300]
167_ARG GLN VAR_005761 rs5030821
LP/P - Pheochromocytoma (PCC) [MIM:171300]
167_ARG TRP VAR_005762 rs5030820
LP/P - Pheochromocytoma (PCC) [MIM:171300]
167_ARG TRP ClinVar
chr3:10191506 		rs5030820
Pathogenic - Von Hippel-Lindau syndrome|Pheochromocytoma|not provided|Hereditary cancer-predisposing syndrome|Papillary renal cell carcinoma type 1|Von Hippel-Lindau syndrome [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300,Orphanet:29072|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Human Phenotype Ontology:HP:0011797,MedGen:C1336839,OMIM:605074,Orphanet:47044|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892]; Chuvash polycythemia|Nonpapillary renal cell carcinoma [MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557|MONDO:MONDO:0007763,MedGen:CN074294,OMIM:144700,Orphanet:422526]; Von Hippel-Lindau syndrome [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892]; Chuvash polycythemia [MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557]; Pheochromocytoma [Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300,Orphanet:29072]
167_ARG GLY ClinVar
chr3:10191506 		rs5030820
Pathogenic - Von Hippel-Lindau syndrome|Von Hippel-Lindau syndrome [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892]; Chuvash polycythemia|Hereditary cancer-predisposing syndrome [MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162]
167_ARG PRO ClinVar
chr3:10191507 		rs5030821
Pathogenic/Likely pathogenic - Hereditary cancer-predisposing syndrome|Von Hippel-Lindau syndrome [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892]
167_ARG LEU ClinVar
chr3:10191507 		rs5030821
Pathogenic - Von Hippel-Lindau syndrome [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892]; Chuvash polycythemia [MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557]
169_LEU VAL 8.3kJPN
chr3:10191512 		-
- 0.0001 -
170_VAL ASP VAR_005763 rs864321642
LP/P - Von Hippel-Lindau disease (VHLD) [MIM:193300]
170_VAL PHE VAR_005764 -
LP/P - Von Hippel-Lindau disease (VHLD) [MIM:193300]
170_VAL GLY VAR_005765 -
LP/P - Von Hippel-Lindau disease (VHLD) [MIM:193300]
170_VAL ALA ClinVar
chr3:10191516 		rs864321642
Likely pathogenic - Pheochromocytoma [Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300,Orphanet:29072]
170_VAL ASP ClinVar
chr3:10191516 		rs864321642
Pathogenic/Likely pathogenic - Von Hippel-Lindau syndrome|not provided|Hereditary cancer-predisposing syndrome|Von Hippel-Lindau syndrome [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892]; Chuvash polycythemia [MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557]
170_VAL LEU ClinVar
chr3:10191515 		rs1553620326
Likely pathogenic - Von Hippel-Lindau syndrome [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892]
173_GLU TER ClinVar
chr3:10191524 		rs1575932228
Pathogenic - Hereditary cancer-predisposing syndrome [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162]
175_TYR ASP VAR_005766 -
LP/P - Von Hippel-Lindau disease (VHLD) [MIM:193300]
175_TYR CYS ClinVar
chr3:10191531 		rs193922613
Pathogenic/Likely pathogenic - Von Hippel-Lindau syndrome|Chuvash polycythemia [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557]; Von Hippel-Lindau syndrome|Hereditary cancer-predisposing syndrome [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162]
175_TYR TER ClinVar
chr3:10191532 		rs5030835
Pathogenic - Von Hippel-Lindau syndrome|Von Hippel-Lindau syndrome [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892]; Chuvash polycythemia [MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557]
175_TYR TER ClinVar
chr3:10191532 		rs5030835
Pathogenic - not provided [MedGen:C3661900]
176_ARG TRP VAR_008104 -
LP/P - Von Hippel-Lindau disease (VHLD) [MIM:193300]
177_ARG TER ClinVar
chr3:10191536 		rs1559429717
Pathogenic - Von Hippel-Lindau syndrome [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892]
178_LEU PRO VAR_005768 rs5030822
LP/P - Von Hippel-Lindau disease (VHLD) [MIM:193300]
178_LEU GLN VAR_005769 rs5030822
LP/P - Von Hippel-Lindau disease (VHLD) [MIM:193300]
178_LEU PRO ClinVar
chr3:10191540 		rs5030822
Pathogenic - Hereditary cancer-predisposing syndrome|Chuvash polycythemia [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557]; Von Hippel-Lindau syndrome|Von Hippel-Lindau syndrome [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892]
178_LEU GLN ClinVar
chr3:10191540 		rs5030822
Pathogenic - Von Hippel-Lindau syndrome [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892]
178_LEU ARG ClinVar
chr3:10191540 		rs5030822
Pathogenic - Von Hippel-Lindau syndrome|Hereditary cancer-predisposing syndrome [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162]
180_ILE VAL VAR_005770 rs377715747
LP/P - Von Hippel-Lindau disease (VHLD) [MIM:193300]
183_SER TER ClinVar
chr3:10191555 		rs5030823
Pathogenic - Papillary renal cell carcinoma type 1|Von Hippel-Lindau syndrome|Von Hippel-Lindau syndrome [Human Phenotype Ontology:HP:0011797,MedGen:C1336839,OMIM:605074,Orphanet:47044|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892]; Chuvash polycythemia|Hereditary cancer-predisposing syndrome [MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162]
183_SER LEU 8.3kJPN
chr3:10191555 		rs5030823
- 0.0002 -
184_LEU ARG VAR_005771 -
LP/P - Von Hippel-Lindau disease (VHLD) [MIM:193300]
184_LEU PRO VAR_005772 rs1064793878
LP/P - Von Hippel-Lindau disease (VHLD) [MIM:193300]
184_LEU PRO ClinVar
chr3:10191558 		rs1064793878
Pathogenic/Likely pathogenic - not provided|Von Hippel-Lindau syndrome [MedGen:CN517202|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892]
185_TYR TER ClinVar
chr3:10191562 		rs864622109
Pathogenic/Likely pathogenic - Von Hippel-Lindau syndrome|Hereditary cancer-predisposing syndrome|Chuvash polycythemia [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557]; Von Hippel-Lindau syndrome [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892]
185_TYR TER ClinVar
chr3:10191562 		-
Pathogenic - Chuvash polycythemia [MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557]; Von Hippel-Lindau syndrome [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892]
186_GLU LYS VAR_005773 rs367545984
LP/P - 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 rs1559429824
LP/P - Von Hippel-Lindau disease (VHLD) [MIM:193300]
188_LEU GLN VAR_005776 rs1559429824
LP/P - Von Hippel-Lindau disease (VHLD) [MIM:193300]
188_LEU VAL VAR_005777 rs5030824
LP/P - Erythrocytosis, familial, 2 (ECYT2) [MIM:263400]
188_LEU VAL ClinVar
chr3:10191569 		rs5030824
Pathogenic/Likely pathogenic - Von Hippel-Lindau syndrome|Pheochromocytoma|Chuvash polycythemia|Hereditary cancer-predisposing syndrome|not provided|Von Hippel-Lindau syndrome [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300,Orphanet:29072|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:C3661900|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892]; Chuvash polycythemia|Au-Kline syndrome [MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557|MONDO:MONDO:0014700,MedGen:C4225274,OMIM:616580,Orphanet:453499,Orphanet:453504]
188_LEU GLN ClinVar
chr3:10191570 		rs1559429824
Likely pathogenic - Von Hippel-Lindau syndrome [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892]
188_LEU PRO ClinVar
chr3:10191570 		rs1559429824
Pathogenic/Likely pathogenic - Von Hippel-Lindau syndrome|Von Hippel-Lindau syndrome [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892]; Chuvash polycythemia [MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557]
188_LEU ARG ClinVar
chr3:10191570 		rs1559429824
Likely pathogenic - Chuvash polycythemia [MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557]; Von Hippel-Lindau syndrome [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892]
191_HIS ASP VAR_034999 rs28940301
LP/P - Erythrocytosis, familial, 2 (ECYT2) [MIM:263400]
191_HIS ASP ClinVar
chr3:10191578 		rs28940301
Likely pathogenic - Chuvash polycythemia|Von Hippel-Lindau syndrome [MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892]; Chuvash polycythemia [MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557]
192_PRO SER VAR_035000 rs28940300
LP/P - Erythrocytosis, familial, 2 (ECYT2) [MIM:263400]
194_VAL GLY ClinVar
chr3:10191588 		rs1131690963
Pathogenic/Likely pathogenic - Hereditary cancer-predisposing syndrome|Chuvash polycythemia [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557]; Von Hippel-Lindau syndrome [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892]
195_GLN TER ClinVar
chr3:10191590 		rs5030825
Pathogenic - Hereditary cancer-predisposing syndrome|Von Hippel-Lindau syndrome [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892]
196_LYS TER ClinVar
chr3:10191593 		rs281860296
Pathogenic - Von Hippel-Lindau syndrome|not provided|Chuvash polycythemia [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892|MedGen:C3661900|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557]; Von Hippel-Lindau syndrome [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892]
197_ASP ASN ClinVar
chr3:10191596 		rs1064794951
Likely pathogenic - Von Hippel-Lindau syndrome [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892]
198_LEU ARG VAR_005778 -
LP/P - Erythrocytosis, familial, 2 (ECYT2) [MIM:263400]
198_LEU GLN VAR_035001 -
LP/P - Pheochromocytoma (PCC) [MIM:171300]
198_LEU PRO ClinVar
chr3:10191600 		rs869025667
Likely pathogenic - Von Hippel-Lindau syndrome|Hereditary cancer-predisposing syndrome [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162]
198_LEU GLN ClinVar
chr3:10191600 		rs869025667
Likely pathogenic - Von Hippel-Lindau syndrome [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892]; Chuvash polycythemia [MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557]
200_ARG TRP VAR_005779 rs28940298
LP/P - Erythrocytosis, familial, 2 (ECYT2) [MIM:263400]
200_ARG LEU ClinVar
chr3:10191606 		rs754016774
Likely pathogenic - Chuvash polycythemia [MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557]; Von Hippel-Lindau syndrome [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892]
200_ARG TRP gnomAD
chr3:10191605 		rs28940298
- 0.000210855 -
201_LEU PRO ClinVar
chr3:10191609 		rs2125130793
Likely pathogenic - Von Hippel-Lindau syndrome [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892]
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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.