Variants
IL2RG variants
The 34 IL2RG 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.115+1G>T | Intron 1 | 71,111,424 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.115+2T>C | Intron 1 | 71,111,423 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.116-1G>A | Intron 1 | 71,111,051 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.116-2A>G | Intron 1 | 71,111,052 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.269+1G>T | Intron 2 | 71,110,896 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.455-2A>C | Intron 3 | 71,110,297 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.455-2A>T | Intron 3 | 71,110,297 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.924+1G>A | Intron 7 | 71,108,276 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.924G>A | Exon 7 | 71,108,277 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| C62R | c.184T>C | Exon 2 | 71,110,982 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| C62S | c.184T>A | Exon 2 | 71,110,982 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| C62X | c.186T>A | Exon 2 | 71,110,980 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| C72X | c.216C>A | Exon 2 | 71,110,950 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| C115R | c.343T>C | Exon 3 | 71,110,615 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| C182Y | c.545G>A | Exon 4 | 71,110,205 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| E34X | c.100G>T | Exon 1 | 71,111,440 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| E59X | c.175G>T | Exon 2 | 71,110,991 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| E68K | c.202G>A | Exon 2 | 71,110,964 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E110X | c.328G>T | Exon 3 | 71,110,630 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| Q15X | c.43C>T | Exon 1 | 71,111,497 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| Q61X | c.181C>T | Exon 2 | 71,110,985 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| Q235X | c.703C>T | Exon 5 | 71,109,282 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| Q322X | c.964C>T | Exon 8 | 71,107,882 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R222C | c.664C>T | Exon 5 | 71,109,321 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R224W | c.670C>T | Exon 5 | 71,109,315 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R226C | c.676C>T | Exon 5 | 71,109,309 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R226H | c.677G>A | Exon 5 | 71,109,308 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R328X | c.982C>T | Exon 8 | 71,107,864 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| S94X | c.281C>A | Exon 3 | 71,110,677 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| V152G | c.455T>G | Exon 4 | 71,110,295 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| W237X | c.710G>A | Exon 5 | 71,109,275 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| W240X | c.720G>A | Exon 5 | 71,109,265 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| W246X | c.738G>A | Exon 5 | 71,109,247 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| Y69X | c.207C>A | Exon 2 | 71,110,959 | Pathogenic | 3 stars out of 4 reviewed by expert panel |