Variants
SDHAF2 variants
The 14 SDHAF2 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 |
|---|---|---|---|---|---|
| c.37-1G>C | Intron 1 | 61,437,624 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.260+1G>A | Intron 2 | 61,437,849 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.371-2A>G | Intron 3 | 61,445,939 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| F89Lfs*9 | c.267del | Exon 3 | 61,438,005 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| G78R | c.232G>A | Exon 2 | 61,437,820 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| N103Efs*4 | c.305_306insA | Exon 3 | 61,438,048 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| Q56X | c.166C>T | Exon 2 | 61,437,754 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R77Gfs*10 | c.229_230del | Exon 2 | 61,437,814 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| S4Lfs*31 | c.9_19del | Exon 1 | 61,430,152 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| S8X | c.23C>A | Exon 1 | 61,430,169 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| S10Rfs*3 | c.28del | Exon 1 | 61,430,172 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| W55X | c.165G>A | Exon 2 | 61,437,753 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| Y105X | c.315T>A | Exon 3 | 61,438,058 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| Y119Lfs*8 | c.355dup | Exon 3 | 61,438,095 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |