PDB ID 1LQB CHAIN C
Protein name von hippel-lindau disease tumor supressor
Uniprot Accession P40337
The number of similar proteins 46
The number of binding states 5
The number of binding partners 5
Coloring
Unicolor (beige)
The number of binding partners
Group

Binding
state
Binding partners
Downdload
 Format:  
Molecule viewer
#binding
partners
  5
  4
  3
  2
  1
  0
Sequence information
1   GSMEAGRPRP   VLRSVNSREP   SQVIFCNRSP   RVVLPVWLNF   DGEPQPYPTL   50
51   PPGTGRRIHS   YRGHLWLFRD   AGTHDGLLVN   QTELFVPSLN   VDGQPIFANI   100
101   TLPVYTLKER   CLQVVRSLVK   PENYRRLDIV   RSLYEDLEDH   PNVQKDLERL   150
151   TQERIAHQRM   GD         200
Variants
Residue AA Source dbSNP Clinical
Significance
Disease name
63_LEU PRO VAR_034987 rs104893827 Disease Pheochromocytoma (PCC) [MIM:171300]
64_ARG PRO ClinVar
chr3:10183722
rs104893826 Pathogenic/Likely pathogenic Erythrocytosis, familial, 2 [MedGen:C1837915,OMIM:263400,Orphanet:ORPHA238557]; Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]; Pheochromocytoma [Human Phenotype Ontology:HP:0002666,MedGen:C0031511,OMIM:171300]; Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004]; Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004]; not provided [MedGen:CN517202]
65_SER TRP ClinVar
chr3:10183725
rs5030826 Pathogenic Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004]; not provided [MedGen:CN517202]
65_SER LEU ClinVar
chr3:10183725
rs5030826 Pathogenic Cerebellar hemangioblastoma [Human Phenotype Ontology:HP:0006880,MedGen:C1332900]; Pancreatic cysts [Human Phenotype Ontology:HP:0001737,MedGen:C0030283]; Retinal capillary hemangioma [Human Phenotype Ontology:HP:0009711,MedGen:C0730303]; Spinal hemangioblastoma [Human Phenotype Ontology:HP:0009713,MedGen:C4024223]; Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004]
65_SER ALA ClinVar
chr3:10183724
rs869025616 Likely pathogenic Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004]
65_SER TER ClinVar
chr3:10183725
rs5030826 Pathogenic Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004]
65_SER PRO ClinVar
chr3:10183724
rs869025616 Pathogenic Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004]
68_SER TER ClinVar
chr3:10183734
rs869025617 Pathogenic Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004]
68_SER TRP VAR_005675 - Disease Pheochromocytoma (PCC) [MIM:171300]
70_GLU LYS ClinVar
chr3:10183739
rs5030802 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]; Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004]
70_GLU TER ClinVar
chr3:10183739
rs5030802 Pathogenic Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]; not provided [MedGen:CN517202]
72_SER PRO ClinVar
chr3:10183745
rs869025618 Likely pathogenic Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]; Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004]
73_GLN TER ClinVar
chr3:10183748
rs869025619 Pathogenic Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004]; not provided [MedGen:CN517202]
74_VAL GLY VAR_005677 rs5030803 Disease Von Hippel-Lindau disease (VHLD) [MIM:193300]
76_PHE ILE VAR_005679 - Disease Von Hippel-Lindau disease (VHLD) [MIM:193300]
76_PHE LEU VAR_005680 - Disease Von Hippel-Lindau disease (VHLD) [MIM:193300]
76_PHE SER VAR_005681 rs730882033 Disease Von Hippel-Lindau disease (VHLD) [MIM:193300]
78_ASN SER ClinVar
chr3:10183764
rs5030804 Pathogenic Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]; Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004]; not provided [MedGen:CN517202]
78_ASN TYR ClinVar
chr3:10183763
rs869025621 Likely pathogenic Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]; Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004]
78_ASN THR ClinVar
chr3:10183764
rs5030804 Pathogenic Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004]; not provided [MedGen:CN517202]
78_ASN ILE ClinVar
chr3:10183764
rs5030804 Pathogenic Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004]
78_ASN HIS VAR_005682 - Disease Von Hippel-Lindau disease (VHLD) [MIM:193300]
79_ARG PRO VAR_005685 - Disease Von Hippel-Lindau disease (VHLD) [MIM:193300]
80_SER GLY ClinVar
chr3:10183769
rs786202787 Likely pathogenic Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]
80_SER ARG ClinVar
chr3:10183769
rs786202787 Pathogenic Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004]
80_SER ILE VAR_005686 rs5030805 Disease Von Hippel-Lindau disease (VHLD) [MIM:193300]
80_SER ARG VAR_005687 - Disease Von Hippel-Lindau disease (VHLD) [MIM:193300]
80_SER ASN VAR_005688 rs5030805 Disease Pheochromocytoma (PCC) [MIM:171300]
81_PRO LEU ClinVar
chr3:10183773
rs193922608 Likely pathogenic Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]; Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004]
81_PRO SER VAR_005689 rs104893829 Disease Von Hippel-Lindau disease (VHLD) [MIM:193300]
82_ARG PRO ClinVar
chr3:10183776
rs794726890 Pathogenic Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004]; not provided [MedGen:CN517202]
82_ARG LEU ClinVar
chr3:10183776
rs794726890 Pathogenic Erythrocytosis, familial, 2 [MedGen:C1837915,OMIM:263400,Orphanet:ORPHA238557]; Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004]
84_VAL LEU ClinVar
chr3:10183781
rs5030827 Pathogenic Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004]
84_VAL LEU ClinVar
chr3:10183781
rs5030827 Pathogenic Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]; Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004]
85_LEU PRO ClinVar
chr3:10183785
rs5030828 Likely pathogenic Neoplasm [Human Phenotype Ontology:HP:0002664,MeSH:D009369,MedGen:C0027651,SNOMED CT:108369006]
86_PRO ALA ClinVar
chr3:10183787
rs398123481 Pathogenic/Likely pathogenic Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004]; not provided [MedGen:CN517202]
86_PRO SER ClinVar
chr3:10183787
rs398123481 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]; Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004]; not provided [MedGen:CN517202]
86_PRO LEU ClinVar
chr3:10183788
rs730882034 Pathogenic Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]; Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004]
86_PRO ARG ClinVar
chr3:10183788
rs730882034 Pathogenic Erythrocytosis, familial, 2 [MedGen:C1837915,OMIM:263400,Orphanet:ORPHA238557]; Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004]; Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004]
86_PRO HIS VAR_008097 - Disease Von Hippel-Lindau disease (VHLD) [MIM:193300]
88_TRP SER ClinVar
chr3:10183794
rs119103277 Pathogenic Cerebellar hemangioblastoma [Human Phenotype Ontology:HP:0006880,MedGen:C1332900]; Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004]
88_TRP TER ClinVar
chr3:10183794
rs119103277 Pathogenic Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]; Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004]; not provided [MedGen:CN517202]
88_TRP CYS ClinVar
chr3:10183795
rs869025622 Likely pathogenic Erythrocytosis, familial, 2 [MedGen:C1837915,OMIM:263400,Orphanet:ORPHA238557]; Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]; Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004]; Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004]
88_TRP ARG ClinVar
chr3:10183793
rs1553619431 Pathogenic Erythrocytosis, familial, 2 [MedGen:C1837915,OMIM:263400,Orphanet:ORPHA238557]; Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004]; Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004]; not provided [MedGen:CN517202]
88_TRP ARG ClinVar
chr3:10183793
rs1553619431 Pathogenic Erythrocytosis, familial, 2 [MedGen:C1837915,OMIM:263400,Orphanet:ORPHA238557]; Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004]; Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004]
88_TRP CYS ClinVar
chr3:10183795
- Pathogenic Erythrocytosis, familial, 2 [MedGen:C1837915,OMIM:263400,Orphanet:ORPHA238557]; Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004]
88_TRP ARG VAR_005697 - Disease Von Hippel-Lindau disease (VHLD) [MIM:193300]
89_LEU PRO ClinVar
chr3:10183797
rs5030807 Likely pathogenic Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]; Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004]
89_LEU HIS ClinVar
chr3:10183797
rs5030807 Likely pathogenic Renal cell carcinoma, papillary, 1 [Human Phenotype Ontology:HP:0005584,MeSH:D002292,MedGen:C0007134,OMIM:605074,Orphanet:ORPHA217071,SNOMED CT:41607009]
90_ASN ILE ClinVar
chr3:10183800
rs143985153 Likely pathogenic Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004]
91_PHE LEU VAR_005701 rs1060503563 Polymorphism -
93_GLY SER ClinVar
chr3:10183808
rs5030808 Pathogenic Erythrocytosis, familial, 2 [MedGen:C1837915,OMIM:263400,Orphanet:ORPHA238557]; Pheochromocytoma [Human Phenotype Ontology:HP:0002666,MedGen:C0031511,OMIM:171300]; Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004]; Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004]
93_GLY ARG ClinVar
chr3:10183808
rs5030808 Likely pathogenic Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004]
93_GLY CYS ClinVar
chr3:10183808
rs5030808 Pathogenic Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004]
93_GLY ASP ClinVar
chr3:10183809
rs1553619440 Pathogenic Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004]
93_GLY ASP VAR_005704 - Disease Von Hippel-Lindau disease (VHLD) [MIM:193300]
94_GLU TER ClinVar
chr3:10183811
- Pathogenic Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]
96_GLN TER ClinVar
chr3:10183817
rs1131690959 Pathogenic Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]
96_GLN PRO VAR_005706 - Disease Von Hippel-Lindau disease (VHLD) [MIM:193300]
98_TYR HIS ClinVar
chr3:10183823
rs5030809 Pathogenic Erythrocytosis, familial, 2 [MedGen:C1837915,OMIM:263400,Orphanet:ORPHA238557]; Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]; Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004]; Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004]; not provided [MedGen:CN517202]
98_TYR CYS ClinVar
chr3:10183824
rs864321643 Pathogenic Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004]
101_LEU GLY VAR_005708 - Disease Von Hippel-Lindau disease (VHLD) [MIM:193300]
101_LEU ARG VAR_005709 - Disease Von Hippel-Lindau disease (VHLD) [MIM:193300]
104_GLY ALA VAR_005710 rs869025630 Polymorphism -
105_THR PRO ClinVar
chr3:10183844
rs1553619461 Pathogenic Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004]
105_THR PRO VAR_005711 - Disease Von Hippel-Lindau disease (VHLD) [MIM:193300]
106_GLY ASP VAR_005712 rs1446876735 Unclassified Lung cancer
107_ARG PRO ClinVar
chr3:10183851
rs193922609 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]; Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004]; not provided [MedGen:CN517202]
107_ARG GLY ClinVar
chr3:10183850
rs397516440 Pathogenic Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004]
107_ARG HIS ClinVar
chr3:10183851
rs193922609 Pathogenic Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]; Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004]
109_ILE ASN ClinVar
chr3:10183857
rs398123482 Likely pathogenic not provided [MedGen:CN517202]
110_HIS TYR VAR_055087 rs17855706 Polymorphism -
111_SER ASN ClinVar
chr3:10183863
rs869025631 Pathogenic Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]; Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004]
111_SER ARG ClinVar
chr3:10183864
rs765978945 Pathogenic Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]; Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004]
111_SER CYS ClinVar
chr3:10183862
- Pathogenic Erythrocytosis, familial, 2 [MedGen:C1837915,OMIM:263400,Orphanet:ORPHA238557]; Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004]
112_TYR HIS ClinVar
chr3:10183865
rs104893824 Pathogenic Erythrocytosis, familial, 2 [MedGen:C1837915,OMIM:263400,Orphanet:ORPHA238557]; Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004]; Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004]
112_TYR ASN ClinVar
chr3:10183865
rs104893824 Pathogenic Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004]
113_ARG TER ClinVar
chr3:10183868
rs5030810 Pathogenic Erythrocytosis, familial, 2 [MedGen:C1837915,OMIM:263400,Orphanet:ORPHA238557]; Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004]; Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004]
114_GLY ARG ClinVar
chr3:10183871
rs869025636 Pathogenic Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004]
114_GLY SER ClinVar
chr3:10183871
- Pathogenic Erythrocytosis, familial, 2 [MedGen:C1837915,OMIM:263400,Orphanet:ORPHA238557]; Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004]
114_GLY CYS VAR_005718 - Disease Von Hippel-Lindau disease (VHLD) [MIM:193300]
115_HIS GLN ClinVar
chr3:10188202
rs864622646 Pathogenic Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004]
115_HIS PRO ClinVar
chr3:10188201
- Likely pathogenic not provided [MedGen:CN517202]
115_HIS TYR VAR_005722 rs5030811 Disease Von Hippel-Lindau disease (VHLD) [MIM:193300]
115_HIS GLN VAR_005723 - Disease Von Hippel-Lindau disease (VHLD) [MIM:193300]
115_HIS ARG VAR_008098 rs5030812 Disease Von Hippel-Lindau disease (VHLD) [MIM:193300]
116_LEU VAL VAR_005724 - Disease Von Hippel-Lindau disease (VHLD) [MIM:193300]
117_TRP CYS ClinVar
chr3:10188208
rs727504215 Pathogenic Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004]; not provided [MedGen:CN517202]
118_LEU PRO ClinVar
chr3:10188210
rs5030830 Pathogenic Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]
118_LEU ARG ClinVar
chr3:10188210
rs5030830 Pathogenic Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]
119_PHE LEU ClinVar
chr3:10188212
rs1553619948 Pathogenic Erythrocytosis, familial, 2 [MedGen:C1837915,OMIM:263400,Orphanet:ORPHA238557]; Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004]; Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004]
119_PHE LEU VAR_005728 - Disease Pheochromocytoma (PCC) [MIM:171300]
119_PHE SER VAR_005729 - Disease Von Hippel-Lindau disease (VHLD) [MIM:193300]
120_ARG GLY ClinVar
chr3:10188215
rs869025642 Likely pathogenic Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004]
121_ASP GLY ClinVar
chr3:10188219
rs5030832 Pathogenic Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004]; not provided [MedGen:CN517202]
122_ALA ILE VAR_034993 - Disease Pheochromocytoma (PCC) [MIM:171300]
124_THR ILE ClinVar
chr3:10188228
rs193922610 Likely pathogenic Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004]; not provided [MedGen:CN517202]
124_THR ALA ClinVar
chr3:10188227
- Likely pathogenic Erythrocytosis, familial, 2 [MedGen:C1837915,OMIM:263400,Orphanet:ORPHA238557]; Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004]
125_HIS PRO ClinVar
chr3:10188231
rs869025643 Pathogenic Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004]
126_ASP TYR ClinVar
chr3:10188233
rs104893831 Pathogenic Erythrocytosis, familial, 2 [MedGen:C1837915,OMIM:263400,Orphanet:ORPHA238557]
128_LEU PHE VAR_005731 - Disease Von Hippel-Lindau disease (VHLD) [MIM:193300]
130_VAL LEU ClinVar
chr3:10188245
rs104893830 Pathogenic Erythrocytosis, familial, 2 [MedGen:C1837915,OMIM:263400,Orphanet:ORPHA238557]; Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]; Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004]
130_VAL PHE ClinVar
chr3:10188245
rs104893830 Pathogenic Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004]
131_ASN SER ClinVar
chr3:10188249
rs1553619963 Likely pathogenic Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004]
131_ASN LYS VAR_005734 rs1064794272 Disease Von Hippel-Lindau disease (VHLD) [MIM:193300]
131_ASN THR VAR_005735 - Disease Von Hippel-Lindau disease (VHLD) [MIM:193300]
132_GLN TER ClinVar
chr3:10188251
rs5030813 Pathogenic not provided [MedGen:CN517202]
132_GLN PRO ClinVar
chr3:10188252
rs1347416980 Pathogenic Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004]
133_THR PRO ClinVar
chr3:10188254
rs1131690961 Likely pathogenic Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]
135_LEU PHE ClinVar
chr3:10188262
rs119103278 Pathogenic Cerebellar hemangioblastoma [Human Phenotype Ontology:HP:0006880,MedGen:C1332900]
136_PHE CYS ClinVar
chr3:10188264
rs5030833 Pathogenic Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]
136_PHE SER ClinVar
chr3:10188264
rs5030833 Pathogenic Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004]; not provided [MedGen:CN517202]
136_PHE TYR VAR_008099 - Disease Von Hippel-Lindau disease (VHLD) [MIM:193300]
143_ASP GLU VAR_005738 - Disease Von Hippel-Lindau disease (VHLD) [MIM:193300]
144_GLY TER ClinVar
chr3:10188287
rs869025650 Pathogenic Erythrocytosis, familial, 2 [MedGen:C1837915,OMIM:263400,Orphanet:ORPHA238557]; Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004]; Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004]
145_GLN HIS VAR_008100 rs771727849 Disease Von Hippel-Lindau disease (VHLD) [MIM:193300]
147_ILE THR VAR_034996 rs1060503555 Disease Pheochromocytoma (PCC) [MIM:171300]
149_ALA SER ClinVar
chr3:10188302
rs587780077 Pathogenic Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]; Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004]; not provided [MedGen:CN517202]
149_ALA THR ClinVar
chr3:10188302
rs587780077 Pathogenic Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004]
151_ILE SER ClinVar
chr3:10188309
rs869025655 Pathogenic Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004]
153_LEU GLN ClinVar
chr3:10188315
rs193922611 Likely pathogenic Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004]
154_PRO LEU VAR_005741 - Disease Von Hippel-Lindau disease (VHLD) [MIM:193300]
155_VAL GLY VAR_005742 - Disease Von Hippel-Lindau disease (VHLD) [MIM:193300]
155_VAL MET VAR_008101 rs869025659 Disease Von Hippel-Lindau disease (VHLD) [MIM:193300]
156_TYR CYS ClinVar
chr3:10191474
rs397516441 Pathogenic/Likely pathogenic Erythrocytosis, familial, 2 [MedGen:C1837915,OMIM:263400,Orphanet:ORPHA238557]; Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]; Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004]; Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004]; not provided [MedGen:CN517202]
156_TYR ASP VAR_005744 - Disease Von Hippel-Lindau disease (VHLD) [MIM:193300]
156_TYR ASN VAR_034997 - Disease Pheochromocytoma (PCC) [MIM:171300]
157_THR ILE ClinVar
chr3:10191477
rs869025660 Pathogenic Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004]
158_LEU PRO ClinVar
chr3:10191480
rs121913346 Pathogenic Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]; Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004]; not provided [MedGen:CN517202]
158_LEU GLN ClinVar
chr3:10191480
rs121913346 Likely pathogenic Renal cell carcinoma, papillary, 1 [Human Phenotype Ontology:HP:0005584,MeSH:D002292,MedGen:C0007134,OMIM:605074,Orphanet:ORPHA217071,SNOMED CT:41607009]
158_LEU VAL ClinVar
chr3:10191479
- Pathogenic Erythrocytosis, familial, 2 [MedGen:C1837915,OMIM:263400,Orphanet:ORPHA238557]; Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004]
159_LYS GLU VAR_005750 - Disease Von Hippel-Lindau disease (VHLD) [MIM:193300]
160_GLU VAL ClinVar
chr3:10191486
rs864321641 Likely pathogenic Pheochromocytoma [Human Phenotype Ontology:HP:0002666,MedGen:C0031511,OMIM:171300]
161_ARG TER ClinVar
chr3:10191488
rs5030818 Pathogenic Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]; Renal cell carcinoma, papillary, 1 [Human Phenotype Ontology:HP:0005584,MeSH:D002292,MedGen:C0007134,OMIM:605074,Orphanet:ORPHA217071,SNOMED CT:41607009]; Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004]; not provided [MedGen:CN517202]
161_ARG GLN ClinVar
chr3:10191489
rs730882035 Pathogenic Erythrocytosis, familial, 2 [MedGen:C1837915,OMIM:263400,Orphanet:ORPHA238557]; Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]; Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004]; Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004]; not provided [MedGen:CN517202]
161_ARG PRO VAR_005752 - Disease Pheochromocytoma (PCC) [MIM:171300]
161_ARG GLY VAR_005753 rs5030818 Disease Von Hippel-Lindau disease (VHLD) [MIM:193300]
162_CYS PHE ClinVar
chr3:10191492
rs397516444 Pathogenic Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004]
162_CYS TYR ClinVar
chr3:10191492
rs397516444 Pathogenic Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004]
162_CYS TER ClinVar
chr3:10191493
rs5030622 Likely pathogenic Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004]
162_CYS ARG ClinVar
chr3:10191491
rs1553620313 Pathogenic Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004]
162_CYS ARG VAR_005755 - Disease Von Hippel-Lindau disease (VHLD) [MIM:193300]
162_CYS TRP VAR_005756 rs869025662 Disease Von Hippel-Lindau disease (VHLD) [MIM:193300]
163_LEU PRO ClinVar
chr3:10191495
rs28940297 Pathogenic Renal cell carcinoma with paraneoplastic erythrocytosis [MedGen:C4017161]
163_LEU PHE ClinVar
chr3:10191494
rs1553620318 Likely pathogenic Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]
164_GLN ARG ClinVar
chr3:10191498
rs267607170 Pathogenic Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004]
164_GLN TER ClinVar
chr3:10191497
rs5030819 Pathogenic Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004]; not provided [MedGen:CN517202]
164_GLN HIS ClinVar
chr3:10191499
rs1352275281 Likely pathogenic Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004]
166_VAL PHE ClinVar
chr3:10191503
rs104893825 Pathogenic Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]; Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004]
166_VAL ALA ClinVar
chr3:10191504
rs397516445 Pathogenic Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004]
166_VAL ASP VAR_008103 - Disease Von Hippel-Lindau disease (VHLD) [MIM:193300]
167_ARG GLN ClinVar
chr3:10191507
rs5030821 Pathogenic Erythrocytosis, familial, 2 [MedGen:C1837915,OMIM:263400,Orphanet:ORPHA238557]; Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]; Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004]; Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004]; not provided [MedGen:CN517202]; not specified [MedGen:CN169374]
167_ARG TRP ClinVar
chr3:10191506
rs5030820 Pathogenic Erythrocytosis, familial, 2 [MedGen:C1837915,OMIM:263400,Orphanet:ORPHA238557]; Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]; Pheochromocytoma [Human Phenotype Ontology:HP:0002666,MedGen:C0031511,OMIM:171300]; Renal cell carcinoma, papillary, 1 [Human Phenotype Ontology:HP:0005584,MeSH:D002292,MedGen:C0007134,OMIM:605074,Orphanet:ORPHA217071,SNOMED CT:41607009]; Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004]; Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004]; not provided [MedGen:CN517202]
167_ARG GLY ClinVar
chr3:10191506
rs5030820 Likely pathogenic Erythrocytosis, familial, 2 [MedGen:C1837915,OMIM:263400,Orphanet:ORPHA238557]; Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004]; Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004]
167_ARG PRO ClinVar
chr3:10191507
rs5030821 Pathogenic Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]
167_ARG LEU ClinVar
chr3:10191507
rs5030821 Pathogenic Erythrocytosis, familial, 2 [MedGen:C1837915,OMIM:263400,Orphanet:ORPHA238557]; Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004]
169_LEU PRO ClinVar
chr3:10191513
rs1131690962 Likely pathogenic Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]
170_VAL ALA ClinVar
chr3:10191516
rs864321642 Likely pathogenic Pheochromocytoma [Human Phenotype Ontology:HP:0002666,MedGen:C0031511,OMIM:171300]
170_VAL ASP VAR_005763 - Disease Von Hippel-Lindau disease (VHLD) [MIM:193300]
170_VAL PHE VAR_005764 - Disease Von Hippel-Lindau disease (VHLD) [MIM:193300]
170_VAL GLY VAR_005765 - Disease Von Hippel-Lindau disease (VHLD) [MIM:193300]
175_TYR CYS ClinVar
chr3:10191531
rs193922613 Likely pathogenic Erythrocytosis, familial, 2 [MedGen:C1837915,OMIM:263400,Orphanet:ORPHA238557]; Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]; Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004]; Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004]
175_TYR TER ClinVar
chr3:10191532
rs5030835 Pathogenic Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004]
175_TYR ASP VAR_005766 - Disease Von Hippel-Lindau disease (VHLD) [MIM:193300]
176_ARG TRP VAR_008104 - Disease Von Hippel-Lindau disease (VHLD) [MIM:193300]
178_LEU PRO ClinVar
chr3:10191540
rs5030822 Pathogenic/Likely pathogenic Erythrocytosis, familial, 2 [MedGen:C1837915,OMIM:263400,Orphanet:ORPHA238557]; Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]; Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004]
178_LEU GLN VAR_005769 rs5030822 Disease Von Hippel-Lindau disease (VHLD) [MIM:193300]
180_ILE VAL VAR_005770 rs377715747 Disease Von Hippel-Lindau disease (VHLD) [MIM:193300]
183_SER TER ClinVar
chr3:10191555
rs5030823 Pathogenic Erythrocytosis, familial, 2 [MedGen:C1837915,OMIM:263400,Orphanet:ORPHA238557]; Renal cell carcinoma, papillary, 1 [Human Phenotype Ontology:HP:0005584,MeSH:D002292,MedGen:C0007134,OMIM:605074,Orphanet:ORPHA217071,SNOMED CT:41607009]; Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004]; Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004]
183_SER TRP ClinVar
chr3:10191555
rs5030823 Likely pathogenic Pheochromocytoma [Human Phenotype Ontology:HP:0002666,MedGen:C0031511,OMIM:171300]
184_LEU PRO ClinVar
chr3:10191558
rs1064793878 Pathogenic not provided [MedGen:CN517202]
184_LEU ARG VAR_005771 - Disease Von Hippel-Lindau disease (VHLD) [MIM:193300]
185_TYR TER ClinVar
chr3:10191562
rs864622109 Pathogenic Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]; Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004]
186_GLU TER ClinVar
chr3:10191563
rs367545984 Likely pathogenic not provided [MedGen:CN517202]
186_GLU LYS VAR_005773 rs367545984 Disease Von Hippel-Lindau disease (VHLD) [MIM:193300]
188_LEU PRO VAR_005775 - Disease Von Hippel-Lindau disease (VHLD) [MIM:193300]
188_LEU GLN VAR_005776 - Disease Von Hippel-Lindau disease (VHLD) [MIM:193300]
188_LEU VAL VAR_005777 rs5030824 Disease Erythrocytosis, familial, 2 (ECYT2) [MIM:263400]
191_HIS ASP ClinVar
chr3:10191578
rs28940301 Pathogenic Erythrocytosis, familial, 2 [MedGen:C1837915,OMIM:263400,Orphanet:ORPHA238557]
192_PRO SER VAR_035000 rs28940300 Disease Erythrocytosis, familial, 2 (ECYT2) [MIM:263400]
195_GLN TER ClinVar
chr3:10191590
rs5030825 Pathogenic Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]
196_LYS TER ClinVar
chr3:10191593
rs281860296 Pathogenic Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004]; not provided [MedGen:CN517202]
198_LEU PRO ClinVar
chr3:10191600
rs869025667 Likely pathogenic Von Hippel-Lindau syndrome [MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004]
198_LEU ARG VAR_005778 - Disease Erythrocytosis, familial, 2 (ECYT2) [MIM:263400]
198_LEU GLN VAR_035001 - Disease Pheochromocytoma (PCC) [MIM:171300]
200_ARG TRP VAR_005779 rs28940298 Disease Erythrocytosis, familial, 2 (ECYT2) [MIM:263400]