Variants
MTM1 variants
The 12 MTM1 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.690G>C | Exon 9 | 150,645,694 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1353G>A | Exon 12 | 150,659,756 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1644+1G>A | Intron 14 | 150,663,610 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| E48Lfs*24 | c.141_144del | Exon 4 | 150,598,593 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E404K | c.1210G>A | Exon 11 | 150,657,977 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| H598Mfs*23 | c.1792del | Exon 15 | 150,671,571 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| P205L | c.614C>T | Exon 8 | 150,641,354 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R69C | c.205C>T | Exon 4 | 150,598,660 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R224X | c.670C>T | Exon 8 | 150,641,410 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| W230C | c.690G>T | Exon 9 | 150,645,694 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| W230R | c.688T>C | Exon 9 | 150,645,692 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| Y192C | c.575A>G | Exon 8 | 150,641,315 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |