Variants
SDHD variants
The 12 SDHD 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 |
|---|---|---|---|---|---|
| A33Ifs*35 | c.94_95del | Exon 2 | 112,087,895 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| c.314+3A>C | Intron 3 | 112,089,014 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| C11X | c.33C>A | Exon 1 | 112,086,940 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| D113Mfs*21 | c.337_340del | Exon 4 | 112,094,823 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| G106V | c.317G>T | Exon 4 | 112,094,807 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| L20Cfs*66 | c.57del | Exon 2 | 112,087,860 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| L107R | c.320T>G | Exon 4 | 112,094,810 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| P81L | c.242C>T | Exon 3 | 112,088,939 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R38X | c.112C>T | Exon 2 | 112,087,916 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| S32X | c.95C>A | Exon 2 | 112,087,899 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| W43X | c.129G>A | Exon 2 | 112,087,933 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| Y114C | c.341A>G | Exon 4 | 112,094,831 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |