Variants
SDHB variants
The 87 SDHB variants with a page here, most review stars first. Each page describes ClinVar's public record of the variant, never a result.
| Variant | HGVS c. | Exon or intron | Position (GRCh38) | ClinVar classification | Review status |
|---|---|---|---|---|---|
| A15Hfs*4 | c.42_43insCACTCTCCTTGAGGCGCCGGTTGCCG | Exon 1 | 17,053,977 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| A15Sfs*3 | c.19_41dup | Exon 1 | 17,053,978 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| A25Gfs*38 | c.71dup | Exon 1 | 17,053,948 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| c.1A>G | Exon 1 | 17,054,019 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.3G>A | Exon 1 | 17,054,017 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.72+1G>T | Intron 1 | 17,053,947 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.73-2A>C | Intron 1 | 17,044,890 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.73-2A>T | Intron 1 | 17,044,890 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.200+1G>A | Intron 2 | 17,044,760 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.201-2A>C | Intron 2 | 17,033,147 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.286+1G>A | Intron 3 | 17,033,059 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.286+2T>A | Intron 3 | 17,033,058 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.287-1G>C | Intron 3 | 17,028,737 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.287-2A>G | Intron 3 | 17,028,738 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.423+1G>A | Intron 4 | 17,028,599 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.423+1G>T | Intron 4 | 17,028,599 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.424-1G>A | Intron 4 | 17,027,866 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.541-2A>G | Intron 5 | 17,024,076 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.642+2T>G | Intron 6 | 17,023,971 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.643-1G>A | Intron 6 | 17,022,731 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.765+1G>A | Intron 7 | 17,022,607 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| C93R | c.277T>C | Exon 3 | 17,033,069 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| C93Y | c.278G>A | Exon 3 | 17,033,068 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| C98Y | c.293G>A | Exon 4 | 17,028,730 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| C189Y | c.566G>A | Exon 6 | 17,024,049 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| C191Y | c.572G>A | Exon 6 | 17,024,043 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| C192R | c.574T>C | Exon 6 | 17,024,041 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| C192Y | c.575G>A | Exon 6 | 17,024,040 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| C196Y | c.587G>A | Exon 6 | 17,024,028 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| C253Y | c.758G>A | Exon 7 | 17,022,615 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| D48V | c.143A>T | Exon 2 | 17,044,818 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| D74A | c.221A>C | Exon 3 | 17,033,125 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| D138Y | c.412G>T | Exon 4 | 17,028,611 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E82Afs*11 | c.245_278del | Exon 3 | 17,033,067 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E185X | c.553G>T | Exon 6 | 17,024,062 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| F238Sfs*10 | c.713del | Exon 7 | 17,022,659 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| G69V | c.206G>T | Exon 3 | 17,033,140 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| G96D | c.287G>A | Exon 4 | 17,028,736 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| G96S | c.286G>A | Exon 3 | 17,033,060 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| G99D | c.296G>A | Exon 4 | 17,028,727 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| I97F | c.289A>T | Exon 4 | 17,028,734 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| I127S | c.380T>G | Exon 4 | 17,028,643 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| K40N | c.120G>C | Exon 2 | 17,044,841 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| K126X | c.375_376delinsGT | Exon 4 | 17,028,647 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| L87S | c.260T>C | Exon 3 | 17,033,086 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| L111Sfs*7 | c.331_332del | Exon 4 | 17,028,690 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| L207Rfs*14 | c.620_621del | Exon 6 | 17,023,993 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| L240Ifs*15 | c.718_719del | Exon 7 | 17,022,653 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| L240Tfs*7 | c.718_721del | Exon 7 | 17,022,651 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| M71Hfs*10 | c.210dup | Exon 3 | 17,033,135 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| M213Nfs*9 | c.637dup | Exon 6 | 17,023,977 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| N104Rfs*15 | c.311delinsGG | Exon 4 | 17,028,712 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| P56Yfs*5 | c.166_170del | Exon 2 | 17,044,790 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| P197R | c.590C>G | Exon 6 | 17,024,025 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| P197S | c.589C>T | Exon 6 | 17,024,026 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| Q24X | c.70C>T | Exon 1 | 17,053,950 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| Q30X | c.88C>T | Exon 2 | 17,044,873 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| Q149X | c.445C>T | Exon 5 | 17,027,844 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| Q169X | c.505C>T | Exon 5 | 17,027,784 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| Q214H | c.642G>C | Exon 6 | 17,023,973 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| Q214X | c.640C>T | Exon 6 | 17,023,975 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R27X | c.79C>T | Exon 2 | 17,044,882 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R38Pfs*40 | c.111_112dup | Exon 2 | 17,044,848 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R46L | c.137G>T | Exon 2 | 17,044,824 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R46Q | c.137G>A | Exon 2 | 17,044,824 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R46X | c.136C>T | Exon 2 | 17,044,825 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R90X | c.268C>T | Exon 3 | 17,033,078 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R115X | c.343C>T | Exon 4 | 17,028,680 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R217C | c.649C>T | Exon 7 | 17,022,724 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R217G | c.649C>G | Exon 7 | 17,022,724 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R217H | c.650G>A | Exon 7 | 17,022,723 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R217L | c.650G>T | Exon 7 | 17,022,723 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R230C | c.688C>T | Exon 7 | 17,022,685 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R230H | c.689G>A | Exon 7 | 17,022,684 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R230L | c.689G>T | Exon 7 | 17,022,684 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R242C | c.724C>T | Exon 7 | 17,022,649 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R242H | c.725G>A | Exon 7 | 17,022,648 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R242S | c.724C>A | Exon 7 | 17,022,649 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| S198Afs*22 | c.591del | Exon 6 | 17,024,023 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| S239Yfs*8 | c.716_719del | Exon 7 | 17,022,653 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| V140F | c.418G>T | Exon 4 | 17,028,605 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| W47X | c.141G>A | Exon 2 | 17,044,820 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| W200C | c.600G>T | Exon 6 | 17,024,015 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| W200Lfs*22 | c.598dup | Exon 6 | 17,024,016 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| W200X | c.600G>A | Exon 6 | 17,024,015 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| W218X | c.653G>A | Exon 7 | 17,022,720 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| Y61X | c.183T>G | Exon 2 | 17,044,778 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |