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Variants
RET variants
The 33 RET 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.
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| Variant | HGVS c. | Exon or intron | Position (GRCh38) | ClinVar classification | Review status |
|---|---|---|---|---|---|
| c.1852T>A | Exon 10 | 43,113,648 | Pathogenic | ★★★★2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.1858T>A | Exon 10 | 43,113,654 | Pathogenic/likely pathogenic | ★★★★2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.1947G>A | Exon 11 | 43,114,547 | Pathogenic/likely pathogenic | ★★★★2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.1998G>C | Exon 11 | 43,114,598 | Pathogenic/likely pathogenic | ★★★★2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.2370G>T | Exon 13 | 43,118,458 | Pathogenic | ★★★★2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.2410G>C | Exon 14 | 43,119,548 | Pathogenic/likely pathogenic | ★★★★2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| C609R | c.1825T>C | Exon 10 | 43,113,621 | Pathogenic | ★★★★2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| C609Y | c.1826G>A | Exon 10 | 43,113,622 | Pathogenic | ★★★★2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| C611F | c.1832G>T | Exon 10 | 43,113,628 | Pathogenic | ★★★★2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| C611Y | c.1832G>A | Exon 10 | 43,113,628 | Pathogenic | ★★★★2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| C618G | c.1852T>G | Exon 10 | 43,113,648 | Pathogenic | ★★★★2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| C618R | c.1852T>C | Exon 10 | 43,113,648 | Pathogenic/likely pathogenic | ★★★★2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| C618S | c.1853G>C | Exon 10 | 43,113,649 | Pathogenic | ★★★★2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| C618Y | c.1853G>A | Exon 10 | 43,113,649 | Pathogenic | ★★★★2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| C620F | c.1859G>T | Exon 10 | 43,113,655 | Pathogenic | ★★★★2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| C620G | c.1858T>G | Exon 10 | 43,113,654 | Pathogenic | ★★★★2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| C620R | c.1858T>C | Exon 10 | 43,113,654 | Pathogenic | ★★★★2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| C620S | c.1859G>C | Exon 10 | 43,113,655 | Pathogenic | ★★★★2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| C630R | c.1888T>C | Exon 11 | 43,114,488 | Pathogenic | ★★★★2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| C634F | c.1901G>T | Exon 11 | 43,114,501 | Pathogenic | ★★★★2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| C634R | c.1900T>C | Exon 11 | 43,114,500 | Pathogenic | ★★★★2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| C634S | c.1900T>A | Exon 11 | 43,114,500 | Pathogenic | ★★★★2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| C634Y | c.1901G>A | Exon 11 | 43,114,501 | Pathogenic | ★★★★2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E768D | c.2304G>C | Exon 13 | 43,118,392 | Pathogenic | ★★★★2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| K666E | c.1996A>G | Exon 11 | 43,114,596 | Pathogenic/likely pathogenic | ★★★★2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| K666N | c.1998G>T | Exon 11 | 43,114,598 | Pathogenic | ★★★★2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| L790F | c.2370G>C | Exon 13 | 43,118,458 | Pathogenic | ★★★★2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| M918T | c.2753T>C | Exon 16 | 43,121,968 | Pathogenic | ★★★★2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| M918V | c.2752A>G | Exon 16 | 43,121,967 | Pathogenic/likely pathogenic | ★★★★2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R330Q | c.989G>A | Exon 5 | 43,106,497 | Likely pathogenic | ★★★★2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| S891A | c.2671T>G | Exon 15 | 43,120,144 | Pathogenic | ★★★★2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| V804L | c.2410G>T | Exon 14 | 43,119,548 | Pathogenic | ★★★★2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| V804M | c.2410G>A | Exon 14 | 43,119,548 | Pathogenic | ★★★★2 stars out of 4 criteria provided, multiple submitters, no conflicts |