Variants
PTPN11 variants
The 8 PTPN11 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 |
|---|---|---|---|---|---|
| E139D | c.417G>C | Exon 4 | 112,453,279 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| I56T | c.167T>C | Exon 3 | 112,450,347 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| I56V | c.166A>G | Exon 3 | 112,450,346 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| M504V | c.1510A>G | Exon 13 | 112,489,086 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| N308D | c.922A>G | Exon 8 | 112,477,719 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| Q510P | c.1529A>C | Exon 13 | 112,489,105 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| T468M | c.1403C>T | Exon 12 | 112,488,466 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| Y63C | c.188A>G | Exon 3 | 112,450,368 | Pathogenic | 3 stars out of 4 reviewed by expert panel |