Variants
GAMT variants
The 69 GAMT 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 |
|---|---|---|---|---|---|
| A22Gfs*63 | c.64dup | Exon 1 | 1,401,412 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A54P | c.160G>C | Exon 1 | 1,401,317 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| A74P | c.220G>C | Exon 2 | 1,399,900 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| A75V | c.224C>T | Exon 2 | 1,399,896 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A156D | c.467C>A | Exon 5 | 1,399,019 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| c.1A>G | Exon 1 | 1,401,476 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.114C>T | Exon 1 | 1,401,363 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.158_181+7del | Intron 1 | 1,401,288 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.327+43G>A | Intron 2 | 1,399,750 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.327G>A | Exon 2 | 1,399,793 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.328-1G>A | Intron 2 | 1,399,588 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.328-2A>G | Intron 2 | 1,399,589 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.391+1G>C | Intron 3 | 1,399,523 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.391+5G>C | Intron 3 | 1,399,519 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.391+15G>T | Intron 3 | 1,399,509 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.521G>A | Exon 5 | 1,398,965 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| C16X | c.48C>A | Exon 1 | 1,401,429 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| C169_S173dup | c.507_521dup | Exon 5 | 1,398,964 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| C169R | c.505T>C | Exon 5 | 1,398,981 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| C169Y | c.506G>A | Exon 5 | 1,398,980 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| D31Afs*13 | c.91_92insCACGG | Exon 1 | 1,401,385 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| D135N | c.403G>A | Exon 4 | 1,399,184 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| D135Y | c.403G>T | Exon 4 | 1,399,184 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E90K | c.268G>A | Exon 2 | 1,399,852 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| E118X | c.352G>T | Exon 3 | 1,399,563 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E176Gfs*15 | c.526dup | Exon 5 | 1,398,959 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E176Sfs*2 | c.526del | Exon 5 | 1,398,959 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| E199Gfs*68 | c.595dup | Exon 6 | 1,397,474 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| F149Lfs*40 | c.444_448del | Exon 4 | 1,399,138 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| G13Pfs*38 | c.11_36dup | Exon 1 | 1,401,440 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| G68C | c.202G>T | Exon 2 | 1,399,918 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| G131R | c.391G>C | Exon 3 | 1,399,524 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| G164Afs*14 | c.491del | Exon 5 | 1,398,994 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| G164D | c.491G>A | Exon 5 | 1,398,995 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| H51P | c.152A>C | Exon 1 | 1,401,325 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| H128Q | c.384C>G | Exon 3 | 1,399,531 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| H147Y | c.439C>T | Exon 4 | 1,399,148 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| K39E | c.115A>G | Exon 1 | 1,401,362 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| K161X | c.481A>T | Exon 5 | 1,399,005 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| L65P | c.194T>C | Exon 2 | 1,399,926 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| L159P | c.476T>C | Exon 5 | 1,399,010 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| L166P | c.497T>C | Exon 5 | 1,398,989 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| L197P | c.590T>C | Exon 6 | 1,397,480 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| M50L | c.148A>C | Exon 1 | 1,401,329 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| M71R | c.212T>G | Exon 2 | 1,399,908 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| M188I | c.564G>T | Exon 5 | 1,398,922 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| N92D | c.274A>G | Exon 2 | 1,399,846 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| Q79X | c.235C>T | Exon 2 | 1,399,885 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| Q106X | c.316C>T | Exon 2 | 1,399,804 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| Q193X | c.577C>T | Exon 6 | 1,397,493 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| R105Gfs*26 | c.299_311dup | Exon 2 | 1,399,808 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R204Efs*63 | c.610_611delinsGAA | Exon 6 | 1,397,459 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| R208P | c.623G>C | Exon 6 | 1,397,447 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| S140Gfs*50 | c.418_419del | Exon 4 | 1,399,167 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| S140X | c.419C>A | Exon 4 | 1,399,168 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| T136M | c.407C>T | Exon 4 | 1,399,180 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| V78E | c.233T>A | Exon 2 | 1,399,887 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| V110F | c.328G>T | Exon 3 | 1,399,587 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| V165Rfs*26 | c.491dup | Exon 5 | 1,398,994 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| W20Lfs*65 | c.58dup | Exon 1 | 1,401,418 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| W20S | c.59G>C | Exon 1 | 1,401,418 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| W45R | c.133T>A | Exon 1 | 1,401,344 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| W45X | c.134G>A | Exon 1 | 1,401,343 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| W87X | c.261G>A | Exon 2 | 1,399,859 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| W144X | c.432G>A | Exon 4 | 1,399,155 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| W174R | c.520T>C | Exon 5 | 1,398,966 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| W174X | c.522G>A | Exon 5 | 1,398,964 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| Y49Ifs*65 | c.145del | Exon 1 | 1,401,331 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| Y134X | c.402C>G | Exon 4 | 1,399,185 | Pathogenic | 3 stars out of 4 reviewed by expert panel |