Variants
SGCG variants
The 10 SGCG 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. | Position (GRCh38) | ClinVar classification | Review status |
|---|---|---|---|---|
| c.195_195+3del | 23,203,888 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.579-2A>G | 23,320,635 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.703-1G>C | 23,324,367 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| C283Y | c.848G>A | 23,324,513 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E176X | c.526G>T | 23,295,435 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E263K | c.787G>A | 23,324,452 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| F175Lfs*20 | c.525del | 23,295,429 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| G30Wfs*30 | c.87dup | 23,203,780 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| L53P | c.158T>C | 23,203,852 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| R34P | c.101G>C | 23,203,795 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |