Variants
SOS1 variants
The 13 SOS1 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 |
|---|---|---|---|---|---|
| E108K | c.322G>A | Exon 3 | 39,058,696 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E846K | c.2536G>A | Exon 16 | 39,007,168 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| F623I | c.1867T>A | Exon 11 | 39,014,838 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| K170E | c.508A>G | Exon 4 | 39,056,704 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| M269T | c.806T>C | Exon 6 | 39,051,202 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R552G | c.1654A>G | Exon 10 | 39,022,774 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R552K | c.1655G>A | Exon 10 | 39,022,773 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R552M | c.1655G>T | Exon 10 | 39,022,773 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| R552S | c.1656G>T | Exon 10 | 39,022,772 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R552T | c.1655G>C | Exon 10 | 39,022,773 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R552W | c.1654A>T | Exon 10 | 39,022,774 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| S548R | c.1642A>C | Exon 10 | 39,022,786 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| V171A | c.512T>C | Exon 5 | 39,054,822 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |