Variants
GATM variants
The 12 GATM 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. | Position (GRCh38) | ClinVar classification | Review status |
|---|---|---|---|---|
| A185P | c.553G>C | 45,368,192 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| c.484+1G>T | 45,369,325 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| M371Nfs*6 | c.1111dup | 45,363,947 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| P320Lfs*41 | c.959del | 45,366,064 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| R169X | c.505C>T | 45,368,240 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R260X | c.778C>T | 45,366,406 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| R413Q | c.1238G>A | 45,362,143 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| R413W | c.1237C>T | 45,362,144 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| W72X | c.216G>A | 45,376,673 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| W149X | c.446G>A | 45,369,364 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| W210X | c.629G>A | 45,368,116 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| Y203S | c.608A>C | 45,368,137 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |