Variants
VHL variants
The 129 VHL variants with a page here, most review stars first. Each page describes ClinVar's public record of the variant, never a result.
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
| Variant | HGVS c. | Exon or intron | Position (GRCh38) | ClinVar classification | Review status |
|---|---|---|---|---|---|
| c.341-2A>G | Intron 1 | 10,146,512 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.463+1G>A | Intron 2 | 10,146,637 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| E70X | c.208G>T | Exon 1 | 10,142,055 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E160Sfs*10 | c.477del | Exon 3 | 10,149,797 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| F136Lfs*23 | c.408del | Exon 2 | 10,146,578 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| K196X | c.586A>T | Exon 3 | 10,149,909 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| N78S | c.233A>G | Exon 1 | 10,142,080 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| N141Kfs*3 | c.422dup | Exon 2 | 10,146,593 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| P86L | c.257C>T | Exon 1 | 10,142,104 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| Q195X | c.583C>T | Exon 3 | 10,149,906 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R64P | c.191G>C | Exon 1 | 10,142,038 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R167Q | c.500G>A | Exon 3 | 10,149,823 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| S65W | c.194C>G | Exon 1 | 10,142,041 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| W88C | c.264G>T | Exon 1 | 10,142,111 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| W88X | c.263G>A | Exon 1 | 10,142,110 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A149S | c.445G>T | Exon 2 | 10,146,618 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| c.-78_-58del | 10,141,769 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | ||
| c.240T>A | Exon 1 | 10,142,087 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.250G>C | Exon 1 | 10,142,097 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.262T>C | Exon 1 | 10,142,109 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.264G>A | Exon 1 | 10,142,111 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.340+1G>C | Intron 1 | 10,142,188 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.340+770T>C | Intron 1 | 10,142,957 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.341-1G>A | Intron 1 | 10,146,513 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.341-2A>T | Intron 1 | 10,146,512 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.357C>G | Exon 2 | 10,146,530 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.414A>GP138P | Exon 2 | 10,146,587 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.463+1G>T | Intron 2 | 10,146,637 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.464-1G>A | Intron 2 | 10,149,786 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.464-2A>G | Intron 2 | 10,149,785 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.492G>C | Exon 3 | 10,149,815 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| C162F | c.485G>T | Exon 3 | 10,149,808 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| C162R | c.484T>C | Exon 3 | 10,149,807 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| C162W | c.486C>G | Exon 3 | 10,149,809 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| D121G | c.362A>G | Exon 2 | 10,146,535 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E70G | c.209A>G | Exon 1 | 10,142,056 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E70K | c.208G>A | Exon 1 | 10,142,055 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E94X | c.280G>T | Exon 1 | 10,142,127 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E134X | c.400G>T | Exon 2 | 10,146,573 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| F76del | c.227_229del | Exon 1 | 10,142,070 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| F119L | c.355T>C | Exon 2 | 10,146,528 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| F136S | c.407T>C | Exon 2 | 10,146,580 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| F148Lfs*11 | c.444del | Exon 2 | 10,146,612 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| G93D | c.278G>A | Exon 1 | 10,142,125 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| G93S | c.277G>A | Exon 1 | 10,142,124 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| G104V | c.311G>T | Exon 1 | 10,142,158 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| G114R | c.340G>C | Exon 1 | 10,142,187 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| G114S | c.340G>A | Exon 1 | 10,142,187 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| H115Q | c.345C>A | Exon 2 | 10,146,518 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| I151T | c.452T>C | Exon 2 | 10,146,625 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| K159X | c.475A>T | Exon 3 | 10,149,798 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| L63R | c.188T>G | Exon 1 | 10,142,035 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| L89P | c.266T>C | Exon 1 | 10,142,113 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| L118P | c.353T>C | Exon 2 | 10,146,526 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| L128Ffs*31 | c.381del | Exon 2 | 10,146,551 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| L128P | c.383T>C | Exon 2 | 10,146,556 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| L153Q | c.458T>A | Exon 2 | 10,146,631 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| L158P | c.473T>C | Exon 3 | 10,149,796 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| L163F | c.487C>T | Exon 3 | 10,149,810 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| L163I | c.487C>A | Exon 3 | 10,149,810 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| L163P | c.488T>C | Exon 3 | 10,149,811 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| L163R | c.488T>G | Exon 3 | 10,149,811 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| L178P | c.533T>C | Exon 3 | 10,149,856 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| L178Rfs*77 | c.533_534del | Exon 3 | 10,149,855 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| L184P | c.551T>C | Exon 3 | 10,149,874 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| L188P | c.563T>C | Exon 3 | 10,149,886 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| L198Q | c.593T>A | Exon 3 | 10,149,916 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| N78D | c.232A>G | Exon 1 | 10,142,079 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| N131K | c.393C>A | Exon 2 | 10,146,566 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| N131S | c.392A>G | Exon 2 | 10,146,565 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| N131Y | c.391A>T | Exon 2 | 10,146,564 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| N150Ifs*9 | c.449del | Exon 2 | 10,146,620 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| P81L | c.242C>T | Exon 1 | 10,142,089 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| P86A | c.256C>G | Exon 1 | 10,142,103 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| P86R | c.257C>G | Exon 1 | 10,142,104 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| P86S | c.256C>T | Exon 1 | 10,142,103 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| P154S | c.460C>T | Exon 2 | 10,146,633 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| Q132P | c.395A>C | Exon 2 | 10,146,568 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| Q132X | c.394C>T | Exon 2 | 10,146,567 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| Q145Ffs*12 | c.433_439del | Exon 2 | 10,146,604 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| Q145X | c.433C>T | Exon 2 | 10,146,606 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| Q164H | c.492G>T | Exon 3 | 10,149,815 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| Q164R | c.491A>G | Exon 3 | 10,149,814 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| Q164X | c.490C>T | Exon 3 | 10,149,813 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R60Gfs*10 | c.164_171dup | Exon 1 | 10,142,008 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R64Afs*68 | c.189dup | Exon 1 | 10,142,035 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R82L | c.245G>T | Exon 1 | 10,142,092 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R82P | c.245G>C | Exon 1 | 10,142,092 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R107G | c.319C>G | Exon 1 | 10,142,166 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R107P | c.320G>C | Exon 1 | 10,142,167 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R120G | c.358A>G | Exon 2 | 10,146,531 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R161Q | c.482G>A | Exon 3 | 10,149,805 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R161X | c.481C>T | Exon 3 | 10,149,804 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R167G | c.499C>G | Exon 3 | 10,149,822 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R167P | c.500G>C | Exon 3 | 10,149,823 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R167W | c.499C>T | Exon 3 | 10,149,822 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R200W | c.598C>T | Exon 3 | 10,149,921 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| S65X | c.194C>A | Exon 1 | 10,142,041 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| S72P | c.214T>C | Exon 1 | 10,142,061 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| S80G | c.238A>G | Exon 1 | 10,142,085 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |