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)		 AlphaMissense
pathogenicity		 Disease name
63_LEU PRO VAR_034987
rs104893827
LP/P - 0.7414 Pheochromocytoma (PCC) [MIM:171300]
63_LEU ARG ClinVar
chr3:10183719
-
Likely pathogenic - 0.8263 Hereditary cancer-predisposing syndrome [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162]
64_ARG PRO VAR_034988
rs104893826
LP/P - 0.9621 Pheochromocytoma (PCC) [MIM:171300]
64_ARG PRO ClinVar
chr3:10183722
rs104893826
Pathogenic/Likely pathogenic - 0.9621 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 - 0.9226 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 - 0.9839 Von Hippel-Lindau disease (VHLD) [MIM:193300]
65_SER TRP VAR_005673
rs5030826
LP/P - 0.981 Von Hippel-Lindau disease (VHLD) [MIM:193300]
65_SER ALA VAR_034989
rs869025616
LP/P - 0.6913 Pheochromocytoma (PCC) [MIM:171300]
65_SER TRP ClinVar
chr3:10183725
rs5030826
Pathogenic - 0.981 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 - 0.9839 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 - 0.6913 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 - 0.9858 Von Hippel-Lindau syndrome [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892]
65_SER THR ClinVar
chr3:10183724
rs869025616
Pathogenic - 0.8684 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 - 0.8354 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 - 0.932 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 - 0.6772 Von Hippel-Lindau disease (VHLD) [MIM:193300]
70_GLU LYS ClinVar
chr3:10183739
rs5030802
Pathogenic/Likely pathogenic - 0.6772 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 - 0.323 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 0.5105 -
72_SER PRO ClinVar
chr3:10183745
rs869025618
Pathogenic/Likely pathogenic - 0.9791 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 - 0.8853 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 - 0.9632 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 - 0.9507 Von Hippel-Lindau disease (VHLD) [MIM:193300]
76_PHE LEU VAR_005680
-
LP/P - 0.9963 Von Hippel-Lindau disease (VHLD) [MIM:193300]
76_PHE SER VAR_005681
rs730882033
LP/P - 0.9987 Von Hippel-Lindau disease (VHLD) [MIM:193300]
76_PHE ILE ClinVar
chr3:10183757
rs1559425911
Likely pathogenic - 0.9507 Hereditary cancer-predisposing syndrome [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162]
76_PHE LEU ClinVar
chr3:10183757
-
Likely pathogenic - 0.9963 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 - 0.9869 Von Hippel-Lindau disease (VHLD) [MIM:193300]
78_ASN SER VAR_005683
rs5030804
LP/P - 0.8815 Von Hippel-Lindau disease (VHLD) [MIM:193300]
78_ASN THR VAR_005684
rs5030804
LP/P - 0.9859 Von Hippel-Lindau disease (VHLD) [MIM:193300]
78_ASN SER ClinVar
chr3:10183764
rs5030804
Pathogenic - 0.8815 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 - 0.9918 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 - 0.9859 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 - 0.9941 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 - 0.9869 Von Hippel-Lindau syndrome [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892]
78_ASN ASP ClinVar
chr3:10183763
rs869025621
Pathogenic/Likely pathogenic - 0.9975 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 - 0.9926 Von Hippel-Lindau disease (VHLD) [MIM:193300]
79_ARG PRO ClinVar
chr3:10183767
-
Likely pathogenic - 0.9926 Hereditary cancer-predisposing syndrome [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162]
80_SER ILE VAR_005686
rs5030805
LP/P - 0.9697 Von Hippel-Lindau disease (VHLD) [MIM:193300]
80_SER ARG VAR_005687
rs786202787
LP/P - 0.9985 Von Hippel-Lindau disease (VHLD) [MIM:193300]
80_SER ASN VAR_005688
rs5030805
LP/P - 0.9755 Pheochromocytoma (PCC) [MIM:171300]
80_SER GLY ClinVar
chr3:10183769
rs786202787
Pathogenic/Likely pathogenic - 0.8395 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 - 0.9985 Von Hippel-Lindau syndrome [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892]
80_SER ILE ClinVar
chr3:10183770
rs5030805
Pathogenic - 0.9697 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 - 0.9755 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 - 0.5826 Von Hippel-Lindau disease (VHLD) [MIM:193300]
81_PRO LEU ClinVar
chr3:10183773
rs193922608
Pathogenic/Likely pathogenic - 0.7182 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 0.5826 -
82_ARG PRO VAR_005690
rs794726890
LP/P - 0.9904 Von Hippel-Lindau disease (VHLD) [MIM:193300]
82_ARG PRO ClinVar
chr3:10183776
rs794726890
Pathogenic - 0.9904 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 - 0.9623 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 - 0.9695 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 - 0.9495 Von Hippel-Lindau disease (VHLD) [MIM:193300]
84_VAL LEU ClinVar
chr3:10183781
rs5030827
Pathogenic - 0.9495 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 - 0.9495 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 - 0.9917 Hereditary cancer-predisposing syndrome [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162]
86_PRO ALA VAR_005693
rs398123481
LP/P - 0.9056 Von Hippel-Lindau disease (VHLD) [MIM:193300]
86_PRO LEU VAR_005694
rs730882034
LP/P - 0.9125 Von Hippel-Lindau disease (VHLD) [MIM:193300]
86_PRO ARG VAR_005695
rs730882034
LP/P - 0.9948 Von Hippel-Lindau disease (VHLD) [MIM:193300]
86_PRO SER VAR_005696
rs398123481
LP/P - 0.9898 Von Hippel-Lindau disease (VHLD) [MIM:193300]
86_PRO HIS VAR_008097
-
LP/P - 0.9971 Von Hippel-Lindau disease (VHLD) [MIM:193300]
86_PRO ALA ClinVar
chr3:10183787
rs398123481
Pathogenic/Likely pathogenic - 0.9056 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 - 0.9898 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 - 0.9125 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 - 0.9948 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 - 0.999 Von Hippel-Lindau disease (VHLD) [MIM:193300]
88_TRP SER VAR_005698
rs119103277
LP/P - 0.9957 Von Hippel-Lindau disease (VHLD) [MIM:193300]
88_TRP SER ClinVar
chr3:10183794
rs119103277
Pathogenic - 0.9957 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 - 0.9973 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 - 0.999 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 - 0.999 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 - 0.9973 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 - 0.9889 Lung cancer
89_LEU PRO VAR_005700
rs5030807
LP/P - 0.9939 Von Hippel-Lindau disease (VHLD) [MIM:193300]
89_LEU PRO ClinVar
chr3:10183797
rs5030807
Pathogenic/Likely pathogenic - 0.9939 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 - 0.9889 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 - 0.9883 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 - 0.9977 -
92_ASP TYR 8.3kJPN
chr3:10183805
rs587780731
- 0.0001 0.1985 -
93_GLY CYS VAR_005703
rs5030808
LP/P - 0.9881 Pheochromocytoma (PCC) [MIM:171300]
93_GLY ASP VAR_005704
rs1553619440
LP/P - 0.9966 Von Hippel-Lindau disease (VHLD) [MIM:193300]
93_GLY SER VAR_005705
rs5030808
LP/P - 0.9609 Pheochromocytoma (PCC) [MIM:171300]
93_GLY SER ClinVar
chr3:10183808
rs5030808
Pathogenic - 0.9609 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 - 0.9916 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 - 0.9881 Von Hippel-Lindau syndrome [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892]
93_GLY ASP ClinVar
chr3:10183809
rs1553619440
Pathogenic - 0.9966 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 - 0.6898 Von Hippel-Lindau syndrome [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892]
96_GLN PRO VAR_005706
rs1559426089
LP/P - 0.9611 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 - 0.9734 Pheochromocytoma (PCC) [MIM:171300]
98_TYR HIS ClinVar
chr3:10183823
rs5030809
Pathogenic - 0.9734 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 - 0.9471 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 - 0.9206 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 - 0.9799 Von Hippel-Lindau syndrome [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892]
100_THR ALA 8.3kJPN
chr3:10183829
rs745901803
- 0.0001 0.0875 -
101_LEU GLY VAR_005708
-
LP/P - 0.9935 Von Hippel-Lindau disease (VHLD) [MIM:193300]
101_LEU ARG VAR_005709
-
LP/P - 0.9778 Von Hippel-Lindau disease (VHLD) [MIM:193300]
101_LEU PRO ClinVar
chr3:10183833
rs1553619456
Likely pathogenic - 0.9865 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 - 0.9567 Hereditary cancer-predisposing syndrome [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162]
101_LEU ARG ClinVar
chr3:10183833
-
Likely pathogenic - 0.9778 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 - 0.5401 -
105_THR PRO VAR_005711
rs1553619461
LP/P - 0.8165 Von Hippel-Lindau disease (VHLD) [MIM:193300]
105_THR PRO ClinVar
chr3:10183844
rs1553619461
Pathogenic - 0.8165 Von Hippel-Lindau syndrome [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892]
106_GLY ASP VAR_005712
rs1446876735
US - 0.9878 Lung cancer
107_ARG PRO VAR_005713
rs193922609
LP/P - 0.9902 Von Hippel-Lindau disease (VHLD) [MIM:193300]
107_ARG GLY VAR_034991
rs397516440
LP/P - 0.8711 Pheochromocytoma (PCC) [MIM:171300]
107_ARG PRO ClinVar
chr3:10183851
rs193922609
Pathogenic/Likely pathogenic - 0.9902 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 - 0.8711 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 - 0.3916 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 - 0.9526 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 - 0.2923 -
111_SER CYS VAR_005714
rs1559426203
LP/P - 0.8407 Von Hippel-Lindau disease (VHLD) [MIM:193300]
111_SER ASN VAR_005715
rs869025631
LP/P - 0.9764 Von Hippel-Lindau disease (VHLD) [MIM:193300]
111_SER ARG VAR_005716
rs765978945
LP/P - 0.9988 Von Hippel-Lindau disease (VHLD) [MIM:193300]
111_SER ASN ClinVar
chr3:10183863
rs869025631
Pathogenic - 0.9764 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 - 0.9988 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 - 0.8407 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 - 0.8407 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 - 0.9988 Von Hippel-Lindau syndrome [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892]
112_TYR HIS VAR_005717
rs104893824
LP/P - 0.9843 Von Hippel-Lindau disease (VHLD) [MIM:193300]
112_TYR ASN VAR_034992
rs104893824
LP/P - 0.991 Von Hippel-Lindau disease (VHLD) [MIM:193300]
112_TYR HIS ClinVar
chr3:10183865
rs104893824
Pathogenic - 0.9843 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 - 0.991 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 - 0.9136 Von Hippel-Lindau disease (VHLD) [MIM:193300]
114_GLY ARG VAR_005719
rs869025636
LP/P - 0.9626 Von Hippel-Lindau disease (VHLD) [MIM:193300]
114_GLY SER VAR_005720
rs869025636
LP/P - 0.646 Von Hippel-Lindau disease (VHLD) [MIM:193300]
114_GLY ARG ClinVar
chr3:10183871
rs869025636
Pathogenic - 0.9626 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 - 0.646 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 - 0.9835 Von Hippel-Lindau disease (VHLD) [MIM:193300]
115_HIS GLN VAR_005723
rs864622646
LP/P - 0.9972 Von Hippel-Lindau disease (VHLD) [MIM:193300]
115_HIS ARG VAR_008098
rs5030812
LP/P - 0.9952 Von Hippel-Lindau disease (VHLD) [MIM:193300]
115_HIS GLN ClinVar
chr3:10188202
rs864622646
Pathogenic/Likely pathogenic - 0.9972 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 - 0.9807 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 - 0.9952 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 - 0.9835 Hereditary cancer-predisposing syndrome [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162]
116_LEU VAL VAR_005724
-
LP/P - 0.2453 Von Hippel-Lindau disease (VHLD) [MIM:193300]
117_TRP CYS VAR_005725
rs727504215
LP/P - 0.9978 Von Hippel-Lindau disease (VHLD) [MIM:193300]
117_TRP CYS ClinVar
chr3:10188208
rs727504215
Pathogenic - 0.9978 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 - 0.9927 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 - 0.9994 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 - 0.9979 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 - 0.9919 Von Hippel-Lindau disease (VHLD) [MIM:193300]
118_LEU ARG VAR_005727
rs5030830
LP/P - 0.9009 Von Hippel-Lindau disease (VHLD) [MIM:193300]
118_LEU PRO ClinVar
chr3:10188210
rs5030830
Pathogenic - 0.9919 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 - 0.9009 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 - 0.9988 Pheochromocytoma (PCC) [MIM:171300]
119_PHE SER VAR_005729
-
LP/P - 0.9979 Von Hippel-Lindau disease (VHLD) [MIM:193300]
119_PHE LEU ClinVar
chr3:10188212
rs1553619948
Pathogenic - 0.9988 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 - 0.9988 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 - 0.9988 Hereditary cancer-predisposing syndrome [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162]
120_ARG GLY ClinVar
chr3:10188215
rs869025642
Likely pathogenic - 0.9855 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 - 0.9798 Von Hippel-Lindau disease (VHLD) [MIM:193300]
121_ASP GLY ClinVar
chr3:10188219
rs5030832
Pathogenic/Likely pathogenic - 0.9798 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 - 0.9827 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 - 0.9576 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 - 0.5976 Pheochromocytoma (PCC) [MIM:171300]
124_THR ILE ClinVar
chr3:10188228
rs193922610
Likely pathogenic - 0.9587 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 - 0.3949 Von Hippel-Lindau syndrome [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892]
126_ASP TYR VAR_034994
rs104893831
LP/P - 0.9291 Erythrocytosis, familial, 2 (ECYT2) [MIM:263400]
126_ASP TYR ClinVar
chr3:10188233
rs104893831
Likely pathogenic - 0.9291 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 - 0.8028 Von Hippel-Lindau disease (VHLD) [MIM:193300]
128_LEU PRO ClinVar
chr3:10188240
rs2125128327
Pathogenic/Likely pathogenic - 0.997 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 0.3736 -
130_VAL LEU VAR_005733
rs104893830
LP/P - 0.9499 Erythrocytosis, familial, 2 (ECYT2) [MIM:263400]
130_VAL LEU ClinVar
chr3:10188245
rs104893830
Pathogenic - 0.9499 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 - 0.9924 Von Hippel-Lindau disease (VHLD) [MIM:193300]
131_ASN THR VAR_005735
-
LP/P - 0.9632 Von Hippel-Lindau disease (VHLD) [MIM:193300]
131_ASN SER ClinVar
chr3:10188249
rs1553619963
Pathogenic/Likely pathogenic - 0.5276 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 - 0.9149 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 - 0.9439 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 - 0.9207 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 - 0.6344 -
135_LEU PHE ClinVar
chr3:10188262
rs119103278
Pathogenic - 0.6344 Von Hippel-Lindau syndrome [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892]
136_PHE SER VAR_005736
rs5030833
LP/P - 0.9958 Von Hippel-Lindau disease (VHLD) [MIM:193300]
136_PHE CYS VAR_005737
rs5030833
LP/P - 0.9929 Pheochromocytoma (PCC) [MIM:171300]
136_PHE TYR VAR_008099
-
LP/P - 0.6973 Von Hippel-Lindau disease (VHLD) [MIM:193300]
136_PHE SER ClinVar
chr3:10188264
rs5030833
Pathogenic/Likely pathogenic - 0.9958 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 - 0.7925 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 - 0.7372 Pheochromocytoma (PCC) [MIM:171300]
149_ALA THR VAR_005740
rs587780077
LP/P - 0.8228 Von Hippel-Lindau disease (VHLD) [MIM:193300]
149_ALA SER ClinVar
chr3:10188302
rs587780077
Pathogenic - 0.5589 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 - 0.8228 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 - 0.9767 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 - 0.7011 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 - 0.9974 Von Hippel-Lindau syndrome [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892]
151_ILE THR ClinVar
chr3:10188309
rs869025655
Pathogenic - 0.996 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 - 0.9789 Von Hippel-Lindau disease (VHLD) [MIM:193300]
154_PRO SER ClinVar
chr3:10188317
rs1553619993
Pathogenic/Likely pathogenic - 0.9851 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 - 0.925 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 - 0.9789 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 - 0.9868 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 - 0.8999 Von Hippel-Lindau disease (VHLD) [MIM:193300]
155_VAL MET VAR_008101
rs869025659
LP/P - 0.79 Von Hippel-Lindau disease (VHLD) [MIM:193300]
155_VAL MET ClinVar
chr3:10188320
rs869025659
Pathogenic - 0.79 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 - 0.893 Hereditary cancer-predisposing syndrome [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162]
155_VAL GLY ClinVar
chr3:10191471
-
Likely pathogenic - 0.8999 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 - 0.8533 Pheochromocytoma (PCC) [MIM:171300]
156_TYR ASP VAR_005744
-
LP/P - 0.9612 Von Hippel-Lindau disease (VHLD) [MIM:193300]
156_TYR ASN VAR_034997
-
LP/P - 0.9365 Pheochromocytoma (PCC) [MIM:171300]
156_TYR CYS ClinVar
chr3:10191474
rs397516441
Pathogenic - 0.8533 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 - 0.9812 Von Hippel-Lindau disease (VHLD) [MIM:193300]
157_THR ILE ClinVar
chr3:10191477
rs869025660
Pathogenic - 0.9812 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 - 0.9948 Von Hippel-Lindau disease (VHLD) [MIM:193300]
158_LEU VAL VAR_005749
rs1559429613
LP/P - 0.9 Von Hippel-Lindau disease (VHLD) [MIM:193300]
158_LEU PRO ClinVar
chr3:10191480
rs121913346
Pathogenic - 0.9948 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 - 0.9955 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 - 0.9 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 - 0.9437 Von Hippel-Lindau disease (VHLD) [MIM:193300]
159_LYS GLU ClinVar
chr3:10191482
rs1575932011
Likely pathogenic - 0.9437 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 - 0.9659 Pheochromocytoma [Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300,Orphanet:29072]
161_ARG GLN VAR_005751
rs730882035
LP/P - 0.871 Pheochromocytoma (PCC) [MIM:171300]
161_ARG PRO VAR_005752
-
LP/P - 0.997 Pheochromocytoma (PCC) [MIM:171300]
161_ARG GLY VAR_005753
rs5030818
LP/P - 0.9656 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 - 0.871 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 - 0.9656 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 - 0.997 Hereditary cancer-predisposing syndrome [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162]
162_CYS PHE VAR_005754
rs397516444
LP/P - 0.9903 Von Hippel-Lindau disease (VHLD) [MIM:193300]
162_CYS ARG VAR_005755
rs1553620313
LP/P - 0.9982 Von Hippel-Lindau disease (VHLD) [MIM:193300]
162_CYS TRP VAR_005756
rs5030622
LP/P - 0.998 Von Hippel-Lindau disease (VHLD) [MIM:193300]
162_CYS TYR VAR_005757
rs397516444
LP/P - 0.9974 Von Hippel-Lindau disease (VHLD) [MIM:193300]
162_CYS PHE ClinVar
chr3:10191492
rs397516444
Pathogenic - 0.9903 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 - 0.9974 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 - 0.998 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 - 0.9982 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 - 0.9964 Renal cell carcinoma (RCC) [MIM:144700]
163_LEU PRO ClinVar
chr3:10191495
rs28940297
Likely pathogenic - 0.9964 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 - 0.8868 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 - 0.9482 Von Hippel-Lindau disease (VHLD) [MIM:193300]
164_GLN HIS VAR_008102
rs1352275281
LP/P - 0.9835 Von Hippel-Lindau disease (VHLD) [MIM:193300]
164_GLN ARG ClinVar
chr3:10191498
rs267607170
Pathogenic - 0.9482 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 - 0.9835 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 - 0.9835 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 - 0.8955 Von Hippel-Lindau disease (VHLD) [MIM:193300]
166_VAL ASP VAR_008103
rs397516445
LP/P - 0.997 Von Hippel-Lindau disease (VHLD) [MIM:193300]
166_VAL PHE ClinVar
chr3:10191503
rs104893825
Pathogenic - 0.8955 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 - 0.9238 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 - 0.997 Von Hippel-Lindau syndrome [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892]
167_ARG GLY VAR_005760
rs5030820
LP/P - 0.9813 Von Hippel-Lindau disease (VHLD) [MIM:193300]
167_ARG GLN VAR_005761
rs5030821
LP/P - 0.8791 Pheochromocytoma (PCC) [MIM:171300]
167_ARG TRP VAR_005762
rs5030820
LP/P - 0.9317 Pheochromocytoma (PCC) [MIM:171300]
167_ARG TRP ClinVar
chr3:10191506
rs5030820
Pathogenic - 0.9317 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 - 0.9813 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 - 0.9962 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 - 0.9741 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 0.3229 -
170_VAL ASP VAR_005763
rs864321642
LP/P - 0.9961 Von Hippel-Lindau disease (VHLD) [MIM:193300]
170_VAL PHE VAR_005764
-
LP/P - 0.9737 Von Hippel-Lindau disease (VHLD) [MIM:193300]
170_VAL GLY VAR_005765
-
LP/P - 0.9034 Von Hippel-Lindau disease (VHLD) [MIM:193300]
170_VAL ALA ClinVar
chr3:10191516
rs864321642
Likely pathogenic - 0.9539 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 - 0.9961 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 - 0.9544 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 - 0.987 Von Hippel-Lindau disease (VHLD) [MIM:193300]
175_TYR CYS ClinVar
chr3:10191531
rs193922613
Pathogenic/Likely pathogenic - 0.8952 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 - 0.6419 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 - 0.9954 Von Hippel-Lindau disease (VHLD) [MIM:193300]
178_LEU GLN VAR_005769
rs5030822
LP/P - 0.9901 Von Hippel-Lindau disease (VHLD) [MIM:193300]
178_LEU PRO ClinVar
chr3:10191540
rs5030822
Pathogenic - 0.9954 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 - 0.9901 Von Hippel-Lindau syndrome [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892]
178_LEU ARG ClinVar
chr3:10191540
rs5030822
Pathogenic - 0.98 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 - 0.5969 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 0.7413 -
184_LEU ARG VAR_005771
-
LP/P - 0.9743 Von Hippel-Lindau disease (VHLD) [MIM:193300]
184_LEU PRO VAR_005772
rs1064793878
LP/P - 0.9905 Von Hippel-Lindau disease (VHLD) [MIM:193300]
184_LEU PRO ClinVar
chr3:10191558
rs1064793878
Pathogenic/Likely pathogenic - 0.9905 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 - 0.4226 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 - 0.9964 Von Hippel-Lindau disease (VHLD) [MIM:193300]
188_LEU GLN VAR_005776
rs1559429824
LP/P - 0.996 Von Hippel-Lindau disease (VHLD) [MIM:193300]
188_LEU VAL VAR_005777
rs5030824
LP/P - 0.7768 Erythrocytosis, familial, 2 (ECYT2) [MIM:263400]
188_LEU VAL ClinVar
chr3:10191569
rs5030824
Pathogenic/Likely pathogenic - 0.7768 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 - 0.996 Von Hippel-Lindau syndrome [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892]
188_LEU PRO ClinVar
chr3:10191570
rs1559429824
Pathogenic/Likely pathogenic - 0.9964 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 - 0.9834 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 - 0.5685 Erythrocytosis, familial, 2 (ECYT2) [MIM:263400]
191_HIS ASP ClinVar
chr3:10191578
rs28940301
Likely pathogenic - 0.5685 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 - 0.9606 Erythrocytosis, familial, 2 (ECYT2) [MIM:263400]
194_VAL GLY ClinVar
chr3:10191588
rs1131690963
Pathogenic/Likely pathogenic - 0.6439 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 - 0.9275 Von Hippel-Lindau syndrome [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892]
198_LEU ARG VAR_005778
-
LP/P - 0.5842 Erythrocytosis, familial, 2 (ECYT2) [MIM:263400]
198_LEU GLN VAR_035001
-
LP/P - 0.7012 Pheochromocytoma (PCC) [MIM:171300]
198_LEU PRO ClinVar
chr3:10191600
rs869025667
Likely pathogenic - 0.9237 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 - 0.7012 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 - 0.4476 Erythrocytosis, familial, 2 (ECYT2) [MIM:263400]
200_ARG LEU ClinVar
chr3:10191606
rs754016774
Likely pathogenic - 0.4859 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 0.4476 -
201_LEU PRO ClinVar
chr3:10191609
rs2125130793
Likely pathogenic - 0.9697 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

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