Variants
GAMT variants
Predicted effect: Frameshift. 14 of 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.
| 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 |
| D31Afs*13 | c.91_92insCACGG | Exon 1 | 1,401,385 | Likely 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 |
| G164Afs*14 | c.491del | Exon 5 | 1,398,994 | 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 |
| S140Gfs*50 | c.418_419del | Exon 4 | 1,399,167 | 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 |
| Y49Ifs*65 | c.145del | Exon 1 | 1,401,331 | Pathogenic | 3 stars out of 4 reviewed by expert panel |