Variants
DNM2 variants
The 12 DNM2 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 |
|---|---|---|---|---|---|
| A618T | c.1852G>A | Exon 17 | 10,823,858 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| D614N | c.1840G>A | Exon 17 | 10,823,846 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| E368K | c.1102G>A | Exon 8 | 10,793,829 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E560K | c.1678G>A | Exon 16 | 10,819,986 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| E650K | c.1948G>A | Exon 18 | 10,825,111 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| R369Q | c.1106G>A | Exon 8 | 10,793,833 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R369W | c.1105C>T | Exon 8 | 10,793,832 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R465W | c.1393C>T | Exon 11 | 10,798,543 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R522C | c.1564C>T | Exon 15 | 10,812,270 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| R522H | c.1565G>A | Exon 15 | 10,812,271 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R523G | c.1567A>G | Exon 15 | 10,812,273 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| S619L | c.1856C>T | Exon 17 | 10,823,862 | Pathogenic | 3 stars out of 4 reviewed by expert panel |