Variants
SDHC variants
The 28 SDHC 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.1A>G | Exon 1 | 161,314,406 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.1A>T | Exon 1 | 161,314,406 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.2T>G | Exon 1 | 161,314,407 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.3G>A958G-A | Exon 1 | 161,314,408 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.21-2A>G | Intron 1 | 161,323,612 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.179+1G>C | Intron 3 | 161,328,498 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.180-2A>G | Intron 3 | 161,340,592 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.242-2_242-1insG | Intron 4 | 161,356,675 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.386G>A | Exon 5 | 161,356,821 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.405+1G>C | Intron 5 | 161,356,841 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.405+1G>T | Intron 5 | 161,356,841 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| G94Wfs*4 | c.278dup | Exon 5 | 161,356,710 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| H17Tfs*30 | c.49del | Exon 2 | 161,323,639 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| H127R | c.380A>G | Exon 5 | 161,356,815 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| L84Ffs*13 | c.250_251del | Exon 5 | 161,356,679 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| Q147X | c.439C>T | Exon 6 | 161,362,362 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R7X | c.17_18dup | Exon 1 | 161,314,421 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R15X | c.43C>T | Exon 2 | 161,323,636 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R40Gfs*7 | c.118del | Exon 3 | 161,328,435 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R50C | c.148C>T | Exon 3 | 161,328,466 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R72C | c.214C>T | Exon 4 | 161,340,628 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R72H | c.215G>A | Exon 4 | 161,340,629 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R133X | c.397C>T | Exon 5 | 161,356,832 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| S83Ffs*20 | c.248_251del | Exon 5 | 161,356,679 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| W129X | c.387G>A | Exon 5 | 161,356,822 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| Y59X | c.177C>A | Exon 3 | 161,328,495 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| Y126C | c.377A>G | Exon 5 | 161,356,812 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| Y126Gfs*5 | c.376_391del | Exon 5 | 161,356,807 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |