| PDB ID | 4B9K
|
CHAIN | C |
|---|---|---|---|
| Protein name | VON HIPPEL-LINDAU DISEASE TUMOR SUPPRESSOR | ||
| Uniprot Accession | P40337 | ||
| The number of similar proteins | 144 | ||
| The number of binding states | 25 | ||
| The number of binding partners | 13 | ||
Coloring
Unicolor (beige)
The number of binding partners
Group
| Binding state |
Binding partners |
|---|---|
| 4B9K (CHAIN: C) | |
| 1 |
Q15369
Q15370
|
| 2 |
Q15369
|
| 3 |
Q16878
|
| 4 |
Q15369
Q13617
|
| 5 |
Q15369
Q15370
P61964
|
| 6 |
Q15369
Q15370
O60885
|
| 7 |
Q15369
Q15370
P51531
|
| 8 |
Q15369
Q15370
Q13451
|
| 9 |
Q15369
Q15370
P01116
|
| 10 |
Q15369
Q15370
Q16665
|
| 11 |
Q15369
Q15369
Q15370
|
| 12 |
P40337
Q15369
Q15370
|
| 13 |
Q15369
Q15370
Q16878
|
| 14 |
Q15369
Q15370
P10415
|
| 15 |
Q15369-2
Q15370
Q05397
|
| 16 |
P40337
P40337
Q15369
Q15370
|
| 17 |
P40337
Q15369
Q15369
Q15370
|
| 18 |
P40337
Q15370
Q15370
P51531
|
| 19 |
P40337
Q15369
Q15369
Q15370
Q15370
Q15370
P51531
|
| 20 |
P40337
P40337
Q15369
Q15369
Q15370
Q15370
Q15370
P51531
|
| 21 |
P40337
P40337
Q15369
Q15369
Q15370
Q15370
P51531
P51531
|
| 22 |
P40337
P40337
Q15369
Q15369
Q15370
P51531
P51531
P51531
|
| 23 |
P40337
P40337
Q15369
Q15369
Q15370
Q15370
P51531
P51531
P51531
|
| 24 |
P40337
P40337
Q15369
Q15369
Q15370
Q15370
Q15370
P51531
P51531
|
| 25 |
P40337
P40337
Q15369
Q15369
Q15370
Q15370
Q15370
P51531
P51531
P51531
|
Downdload
Molecule viewer
|
Only interaction residues |
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|
Sequence information
|
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 rs104893827 |
Likely pathogenic | - | 0.8263 | 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|Von Hippel-Lindau syndrome [MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892] | |
| 64_ARG | PRO |
VAR_034988
rs104893826 |
LP/P | - | 0.9621 | Pheochromocytoma (PCC) [MIM:171300] | |
| 64_ARG | PRO |
ClinVar chr3:10183722 rs104893826 |
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 | Von Hippel-Lindau syndrome [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892]; Chuvash polycythemia [MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557] | |
| 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|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|Hereditary cancer-predisposing syndrome [MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162] | |
| 65_SER | LEU |
ClinVar chr3:10183725 rs5030826 |
Pathogenic | - | 0.9839 | Pancreatic cysts [Human Phenotype Ontology:HP:0001737,MedGen:C0030283]; 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]; Spinal hemangioblastoma|Chuvash polycythemia [Human Phenotype Ontology:HP:0009713,MedGen:C4024223|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] | |
| 65_SER | ALA |
ClinVar chr3:10183724 rs869025616 |
Likely pathogenic | - | 0.6913 | Von Hippel-Lindau syndrome|Pheochromocytoma [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300,Orphanet:29072] | |
| 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|Chuvash polycythemia|not provided|Hereditary cancer-predisposing syndrome|Clear cell carcinoma of kidney [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:C0279702] | |
| 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 | Von Hippel-Lindau syndrome [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892]; Chuvash polycythemia [MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557] | |
| 68_SER | TRP |
VAR_005675
rs869025617 |
LP/P | - | 0.8354 | Pheochromocytoma (PCC) [MIM:171300] | |
| 68_SER | TER |
ClinVar chr3:10183734 rs869025617 |
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] | |
| 68_SER | PRO |
ClinVar chr3:10183733 rs2470158062 |
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|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|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]; Pheochromocytoma [Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300,Orphanet:29072]; Chuvash polycythemia [MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557] | |
| 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 | Von Hippel-Lindau syndrome [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892]; Chuvash polycythemia [MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557] | |
| 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|Hereditary cancer-predisposing syndrome [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162] | |
| 74_VAL | GLY |
VAR_005677
rs5030803 |
LP/P | - | 0.8853 | Von Hippel-Lindau disease (VHLD) [MIM:193300] | |
| 74_VAL | PHE |
ClinVar chr3:10183751 rs2125125032 |
Likely pathogenic | - | 0.9632 | Von Hippel-Lindau syndrome [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892]; Chuvash polycythemia [MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557] | |
| 75_ILE | SER |
ClinVar chr3:10183755 rs1064794271 |
Pathogenic/Likely 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|Hereditary cancer-predisposing syndrome [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162] | |
| 76_PHE | ILE |
VAR_005679
rs1559425911 |
LP/P | - | 0.9507 | Von Hippel-Lindau disease (VHLD) [MIM:193300] | |
| 76_PHE | LEU |
VAR_005680
rs1575921940 |
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 | VAL |
ClinVar chr3:10183757 - |
Likely pathogenic | - | - | Chuvash polycythemia [MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557]; Von Hippel-Lindau syndrome [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892] | |
| 77_CYS | TER |
ClinVar chr3:10183762 rs2125125069 |
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|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] | |
| 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|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] | |
| 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|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] | |
| 79_ARG | PRO |
VAR_005685
rs2125125087 |
LP/P | - | 0.9926 | Von Hippel-Lindau disease (VHLD) [MIM:193300] | |
| 79_ARG | PRO |
ClinVar chr3:10183767 rs2125125087 |
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|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] | |
| 80_SER | ILE |
ClinVar chr3:10183770 rs5030805 |
Pathogenic/Likely pathogenic | - | 0.9697 | 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] | |
| 80_SER | ASN |
ClinVar chr3:10183770 rs5030805 |
Pathogenic/Likely pathogenic | - | 0.9755 | Chuvash polycythemia [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] | |
| 80_SER | ARG |
ClinVar chr3:10183771 rs1553619424 |
Likely pathogenic | - | 0.9985 | 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] | |
| 81_PRO | SER |
VAR_005689
rs104893829 |
LB/B | - | 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|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|Chuvash polycythemia|Inherited phaeochromocytoma and paraganglioma excluding NF1 [MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557|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:C3661900] | |
| 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|not provided [MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:C3661900] | |
| 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 | MET |
ClinVar chr3:10183781 rs5030827 |
Pathogenic/Likely pathogenic | - | - | Hereditary cancer-predisposing syndrome|Von Hippel-Lindau syndrome [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892]; Chuvash polycythemia|Von Hippel-Lindau syndrome|not provided [MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892|MedGen:C3661900] | |
| 84_VAL | GLU |
ClinVar chr3:10183782 rs1264207864 |
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
rs730882034 |
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|Hereditary cancer-predisposing syndrome [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162] | |
| 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|Chuvash polycythemia [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557] | |
| 86_PRO | LEU |
ClinVar chr3:10183788 rs730882034 |
Pathogenic | - | 0.9125 | 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] | |
| 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|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] | |
| 88_TRP | CYS |
ClinVar chr3:10183795 rs869025622 |
Likely pathogenic | - | 0.9973 | 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] | |
| 88_TRP | ARG |
ClinVar chr3:10183793 rs1553619431 |
Pathogenic | - | 0.999 | Von Hippel-Lindau syndrome [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892]; Chuvash polycythemia|Von Hippel-Lindau syndrome|not provided|Hereditary cancer-predisposing syndrome|Chuvash polycythemia [MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557|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] | |
| 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 [MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557] | |
| 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 | - | - | Chuvash polycythemia [MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557]; Von Hippel-Lindau syndrome|Hereditary cancer-predisposing syndrome|Tuberous sclerosis 2|Von Hippel-Lindau syndrome|not provided [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254,Orphanet:805|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892|MedGen:C3661900] | |
| 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|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] | |
| 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 |
US | - | 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|not provided [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|MedGen:C3661900] | |
| 93_GLY | ARG |
ClinVar chr3:10183808 rs5030808 |
Pathogenic/Likely pathogenic | - | 0.9916 | 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] | |
| 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/Likely pathogenic | - | 0.9966 | 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 [MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557|MedGen:C3661900] | |
| 94_GLU | TER |
ClinVar chr3:10183811 rs5030829 |
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] | |
| 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|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] | |
| 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|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|VHL-related disorder [MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557|MedGen:C3661900|] | |
| 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|not provided [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:C3661900] | |
| 98_TYR | CYS |
ClinVar chr3:10183824 rs864321643 |
Pathogenic | - | 0.9206 | 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] | |
| 98_TYR | TER |
ClinVar chr3:10183825 rs1559426115 |
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] | |
| 98_TYR | ASN |
ClinVar chr3:10183823 rs5030809 |
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 rs1553619456 |
Likely pathogenic | - | 0.9567 | Hereditary cancer-predisposing syndrome [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162] | |
| 101_LEU | ARG |
ClinVar chr3:10183833 rs1553619456 |
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|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] | |
| 107_ARG | GLY |
ClinVar chr3:10183850 rs397516440 |
Pathogenic/Likely pathogenic | - | 0.8711 | Von Hippel-Lindau syndrome|Pheochromocytoma [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300,Orphanet:29072]; Von Hippel-Lindau syndrome [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892]; Chuvash polycythemia [MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557]; Nonpapillary renal cell carcinoma|Hereditary cancer-predisposing syndrome [MONDO:MONDO:0007763,MedGen:CN074294,OMIM:144700,Orphanet:422526|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|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|VHL-related disorder [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892|] | |
| 107_ARG | SER |
ClinVar chr3:10183850 rs397516440 |
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|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 | 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 | Chuvash polycythemia [MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557]; Von Hippel-Lindau syndrome [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892] | |
| 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 rs1559426203 |
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/Likely 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 disorder [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|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] | |
| 112_TYR | CYS |
ClinVar chr3:10183866 rs869025633 |
Pathogenic/Likely pathogenic | - | - | Von Hippel-Lindau syndrome|Hereditary cancer-predisposing syndrome|Von Hippel-Lindau syndrome [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892]; Chuvash polycythemia|not provided [MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557|MedGen:C3661900] | |
| 112_TYR | TER |
ClinVar chr3:10183867 rs751232153 |
Pathogenic | - | - | Von Hippel-Lindau syndrome|Chuvash polycythemia [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557]; Von Hippel-Lindau syndrome|Hereditary cancer-predisposing syndrome|not provided [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:C3661900] | |
| 112_TYR | SER |
ClinVar chr3:10183866 rs869025633 |
Pathogenic/Likely pathogenic | - | - | Hereditary cancer-predisposing syndrome|Von Hippel-Lindau syndrome [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892]; Chuvash polycythemia [MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557] | |
| 113_ARG | TER |
ClinVar chr3:10183868 rs5030810 |
Pathogenic | - | - | Von Hippel-Lindau syndrome|Chuvash polycythemia [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557]; Von Hippel-Lindau syndrome|Hereditary cancer-predisposing syndrome|not provided [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:C3661900] | |
| 114_GLY | CYS |
VAR_005718
rs869025636 |
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|Hereditary cancer-predisposing syndrome [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162] | |
| 114_GLY | SER |
ClinVar chr3:10183871 rs869025636 |
Pathogenic/Likely pathogenic | - | 0.646 | Chuvash polycythemia [MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557]; 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] | |
| 114_GLY | VAL |
ClinVar chr3:10188198 rs1559428039 |
Likely pathogenic | - | - | Chuvash polycythemia [MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557]; Von Hippel-Lindau syndrome [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892] | |
| 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|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 [MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557|MedGen:C3661900] | |
| 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 rs5030811 |
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 rs1696261074 |
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 rs727504215 |
Likely pathogenic | - | - | not provided [MedGen:C3661900] | |
| 117_TRP | SER |
ClinVar chr3:10188207 rs1559428056 |
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|Von Hippel-Lindau syndrome [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892|MedGen:C3661900|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892] | |
| 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|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 rs1559428077 |
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|not provided [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:C3661900] | |
| 119_PHE | LEU |
ClinVar chr3:10188214 rs1559428077 |
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] | |
| 120_ARG | LYS |
ClinVar chr3:10188216 - |
Likely pathogenic | - | - | Von Hippel-Lindau syndrome [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892] | |
| 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|Hereditary cancer-predisposing syndrome [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162] | |
| 121_ASP | VAL |
ClinVar chr3:10188219 rs5030832 |
Likely pathogenic | - | 0.9827 | Von Hippel-Lindau syndrome [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892]; Chuvash polycythemia [MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557] | |
| 121_ASP | ASN |
ClinVar chr3:10188218 rs2125128261 |
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 |
Pathogenic/Likely pathogenic | - | 0.9587 | 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|Hereditary pheochromocytoma and paraganglioma|Nonpapillary renal cell carcinoma [MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557|MONDO:MONDO:0017366,MedGen:C4274332,OMIM:PS168000,Orphanet:29072|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] | |
| 125_HIS | PRO |
ClinVar chr3:10188231 rs869025643 |
Likely pathogenic | - | 0.3949 | 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] | |
| 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|Von Hippel-Lindau syndrome [MedGen:C3661900|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] | |
| 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] | |
| 130_VAL | PHE |
ClinVar chr3:10188245 rs104893830 |
Pathogenic | - | - | Von Hippel-Lindau syndrome|Hereditary cancer-predisposing syndrome [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162] | |
| 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 | LYS |
ClinVar chr3:10188250 rs1064794272 |
Pathogenic/Likely pathogenic | - | 0.9924 | not provided|Chuvash polycythemia [MedGen:C3661900|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] | |
| 131_ASN | SER |
ClinVar chr3:10188249 rs1553619963 |
Pathogenic/Likely pathogenic | - | 0.5276 | 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] | |
| 131_ASN | TYR |
ClinVar chr3:10188248 rs2125128340 |
Likely pathogenic | - | 0.9149 | 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] | |
| 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|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] | |
| 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|Von Hippel-Lindau syndrome [MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892] | |
| 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
rs5030833 |
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|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] | |
| 136_PHE | VAL |
ClinVar chr3:10188263 rs1696264108 |
Pathogenic/Likely pathogenic | - | - | Hereditary cancer-predisposing syndrome|Chuvash polycythemia [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557]; Von Hippel-Lindau syndrome [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892] | |
| 138_PRO | PRO |
ClinVar chr3:10188271 rs869025648 |
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|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|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] | |
| 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|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] | |
| 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|See cases [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892|] | |
| 153_LEU | GLN |
ClinVar chr3:10188315 rs193922611 |
Pathogenic/Likely pathogenic | - | - | Von Hippel-Lindau syndrome|Hereditary cancer-predisposing syndrome|Von Hippel-Lindau syndrome [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892]; Chuvash polycythemia [MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557] | |
| 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 [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892] | |
| 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 rs1553619993 |
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] | |
| 154_PRO | PRO |
ClinVar chr3:10188319 - |
Likely pathogenic | - | - | Hereditary cancer-predisposing syndrome [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162] | |
| 155_VAL | GLY |
VAR_005742
rs2125130449 |
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/Likely pathogenic | - | 0.79 | 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] | |
| 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 rs2125130449 |
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
rs2125130454 |
LP/P | - | 0.9612 | Von Hippel-Lindau disease (VHLD) [MIM:193300] | |
| 156_TYR | ASN |
VAR_034997
rs2125130454 |
LP/P | - | 0.9365 | Pheochromocytoma (PCC) [MIM:171300] | |
| 156_TYR | CYS |
ClinVar chr3:10191474 rs397516441 |
Pathogenic/Likely pathogenic | - | 0.8533 | 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] | |
| 156_TYR | SER |
ClinVar chr3:10191474 - |
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] | |
| 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|Hereditary cancer-predisposing syndrome|Pheochromocytoma [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300,Orphanet:29072] | |
| 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|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] | |
| 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] | |
| 158_LEU | ARG |
ClinVar chr3:10191480 - |
Pathogenic | - | - | Hereditary cancer-predisposing syndrome [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|Pheochromocytoma [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300,Orphanet:29072] | |
| 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|VHL-related disorder [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] | |
| 160_GLU | TER |
ClinVar chr3:10191485 rs1696354965 |
Pathogenic | - | - | Hereditary cancer-predisposing syndrome [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162] | |
| 161_ARG | GLN |
VAR_005751
rs730882035 |
LP/P | - | 0.871 | Pheochromocytoma (PCC) [MIM:171300] | |
| 161_ARG | PRO |
VAR_005752
rs730882035 |
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|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|Familial infantile myasthenia|Hemangioblastoma [MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557|MONDO:MONDO:0009689,MedGen:C0393929,OMIM:254210,Orphanet:590|Human Phenotype Ontology:HP:0010797,MONDO:MONDO:0016748,MedGen:C0206734,Orphanet:252054] | |
| 161_ARG | GLN |
ClinVar chr3:10191489 rs730882035 |
Pathogenic | - | 0.871 | 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|Hereditary cancer-predisposing syndrome|VHL-related disorder|Inherited phaeochromocytoma and paraganglioma excluding NF1|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]; Pheochromocytoma [Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300,Orphanet:29072]; Von Hippel-Lindau syndrome [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892]; Nonpapillary renal cell carcinoma [MONDO:MONDO:0007763,MedGen:CN074294,OMIM:144700,Orphanet:422526] | |
| 161_ARG | GLY |
ClinVar chr3:10191488 rs5030818 |
Pathogenic | - | 0.9656 | not provided|Chuvash polycythemia [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] | |
| 161_ARG | PRO |
ClinVar chr3:10191489 rs730882035 |
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|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] | |
| 162_CYS | TYR |
ClinVar chr3:10191492 rs397516444 |
Pathogenic/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/Likely 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] | |
| 162_CYS | SER |
ClinVar chr3:10191492 - |
Likely pathogenic | - | - | Chuvash polycythemia [MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557]; Von Hippel-Lindau syndrome [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892] | |
| 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|Von Hippel-Lindau syndrome [MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892] | |
| 163_LEU | ARG |
ClinVar chr3:10191495 rs28940297 |
Pathogenic | - | 0.8868 | Von Hippel-Lindau syndrome [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892]; Chuvash polycythemia|Von Hippel-Lindau syndrome [MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892] | |
| 163_LEU | PHE |
ClinVar chr3:10191494 rs1553620318 |
Pathogenic/Likely pathogenic | - | - | Hereditary cancer-predisposing syndrome|Von Hippel-Lindau syndrome [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892]; Chuvash polycythemia|Von Hippel-Lindau syndrome [MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557|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|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] | |
| 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|Von Hippel-Lindau syndrome|not provided|Hereditary cancer-predisposing syndrome [MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162] | |
| 164_GLN | HIS |
ClinVar chr3:10191499 rs1352275281 |
Pathogenic/Likely pathogenic | - | 0.9835 | not provided|Hereditary cancer-predisposing syndrome|Chuvash polycythemia [MedGen:C3661900|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] | |
| 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 | GLN |
ClinVar chr3:10191507 rs5030821 |
Pathogenic | - | 0.8791 | 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|Pheochromocytoma|Chuvash polycythemia [MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300,Orphanet:29072|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557] | |
| 167_ARG | TRP |
ClinVar chr3:10191506 rs5030820 |
Pathogenic/Likely pathogenic | - | 0.9317 | Von Hippel-Lindau syndrome|Pheochromocytoma|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:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:C3661900|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]; Pheochromocytoma [Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300,Orphanet:29072]; Chuvash polycythemia|Chuvash polycythemia [MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557] | |
| 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|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] | |
| 167_ARG | LEU |
ClinVar chr3:10191507 rs5030821 |
Pathogenic | - | 0.9741 | Chuvash polycythemia [MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557]; Von Hippel-Lindau syndrome [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892] | |
| 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
rs1553620326 |
LP/P | - | 0.9737 | Von Hippel-Lindau disease (VHLD) [MIM:193300] | |
| 170_VAL | GLY |
VAR_005765
rs864321642 |
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|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] | |
| 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|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] | |
| 175_TYR | TER |
ClinVar chr3:10191532 rs5030835 |
Pathogenic | - | - | Von Hippel-Lindau syndrome|Chuvash polycythemia [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557]; Von Hippel-Lindau syndrome [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892] | |
| 175_TYR | TER |
ClinVar chr3:10191532 rs5030835 |
Pathogenic | - | - | not provided|Hereditary cancer-predisposing syndrome [MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162] | |
| 175_TYR | ASN |
ClinVar chr3:10191530 - |
Likely pathogenic | - | - | Chuvash polycythemia [MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557]; Von Hippel-Lindau syndrome [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892] | |
| 176_ARG | TRP |
VAR_008104
- |
LP/P | - | 0.6419 | Von Hippel-Lindau disease (VHLD) [MIM:193300] | |
| 176_ARG | TRP |
ClinVar chr3:10191533 - |
Pathogenic | - | 0.6419 | Chuvash polycythemia [MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557]; Von Hippel-Lindau syndrome [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892] | |
| 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/Likely 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|not provided [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892|MedGen:C3661900] | |
| 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|not provided [MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:C3661900] | |
| 183_SER | LEU |
8.3kJPN chr3:10191555 rs5030823 |
- | 0.0002 | 0.7413 | - | |
| 184_LEU | ARG |
VAR_005771
rs1064793878 |
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|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] | |
| 185_TYR | TER |
ClinVar chr3:10191562 rs864622109 |
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 rs864622109 |
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 |
US | - | 0.7768 | Erythrocytosis, familial, 2 (ECYT2) [MIM:263400] | |
| 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|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] | |
| 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] | |
| 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
rs869025667 |
LP/P | - | 0.7012 | Pheochromocytoma (PCC) [MIM:171300] | |
| 198_LEU | PRO |
ClinVar chr3:10191600 rs869025667 |
Pathogenic/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|Von Hippel-Lindau syndrome [MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892] | |
| 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 | PRO |
ClinVar chr3:10191606 - |
Likely pathogenic | - | - | Chuvash polycythemia [MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557]; Von Hippel-Lindau syndrome [MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892] | |
| 200_ARG | TRP |
gnomAD chr3:10191605 rs28940298 |
- | 0.000210855 | 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] |