Variants
GLA variants
The 364 GLA 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 |
|---|---|---|---|---|---|
| A15E | c.44C>A | Exon 1 | 101,407,860 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| A20D | c.59C>A | Exon 1 | 101,407,845 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| A20Gfs*2 | c.59_84del | Exon 1 | 101,407,819 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| A29Gfs*2 | c.85dup | Exon 1 | 101,407,818 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| A31V | c.92C>T | Exon 1 | 101,407,812 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| A37P | c.109G>C | Exon 1 | 101,407,795 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| A37T | c.109G>A | Exon 1 | 101,407,795 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| A97V | c.290C>T | Exon 2 | 101,403,890 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| A121P | c.361G>C | Exon 2 | 101,403,819 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| A135V | c.404C>T | Exon 3 | 101,401,775 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| A143P | c.427G>C | Exon 3 | 101,401,752 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| A156D | c.467C>A | Exon 3 | 101,401,712 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| A230T | c.688G>A | Exon 5 | 101,398,898 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| A257V | c.770C>T | Exon 5 | 101,398,816 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| A285P | c.853G>C | Exon 6 | 101,398,516 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| A288Vfs*29 | c.863del | Exon 6 | 101,398,505 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| A291T | c.871G>A | Exon 6 | 101,398,498 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| A292P | c.874G>C | Exon 6 | 101,398,495 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| A348Gfs*27 | c.1042dup | Exon 7 | 101,398,056 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| A350P | c.1048G>C | Exon 7 | 101,398,051 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| A352Dfs*22 | c.1055_1056del | Exon 7 | 101,398,042 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| A368Lfs*25 | c.1102delinsTTATAC | Exon 7 | 101,397,997 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| c.1A>G | Exon 1 | 101,407,903 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.2T>A | Exon 1 | 101,407,902 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.2T>C | Exon 1 | 101,407,902 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.3G>A | Exon 1 | 101,407,901 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.153G>A | Exon 1 | 101,407,751 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.194+1G>A | Intron 1 | 101,407,709 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.194+1G>T | Intron 1 | 101,407,709 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.195-1G>T | Intron 1 | 101,403,986 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.195-2A>G | Intron 1 | 101,403,987 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.281G>C | Exon 2 | 101,403,899 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.369+1G>A | Intron 2 | 101,403,810 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.370-2A>C | Intron 2 | 101,401,811 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.486G>A | Exon 3 | 101,401,693 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.547+1G>A | Intron 3 | 101,401,631 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.547+3A>G | Intron 3 | 101,401,629 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.547+4A>G | Intron 3 | 101,401,628 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.548-2A>G | Intron 3 | 101,400,759 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.639+1G>A | Intron 4 | 101,400,665 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.639+2T>C | Intron 4 | 101,400,664 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.639+5G>A | Intron 4 | 101,400,661 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.640-1G>A | Intron 4 | 101,398,947 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.640-1G>T | Intron 4 | 101,398,947 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.640-2A>G | Intron 4 | 101,398,948 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.640-801G>AIVS4+919G>A | Intron 4 | 101,399,747 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.640-859C>T | Intron 4 | 101,399,805 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.708G>A | Exon 5 | 101,398,878 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.735G>A | Exon 5 | 101,398,851 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.782del | Exon 5 | 101,398,803 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.801+1G>C | Intron 5 | 101,398,784 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.801+3A>G | Intron 5 | 101,398,782 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.802-2A>G | Intron 5 | 101,398,569 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.802-2A>T | Intron 5 | 101,398,569 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.802-3_802-2del | Intron 5 | 101,398,568 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.870G>C | Exon 6 | 101,398,499 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.966C>A | Exon 6 | 101,398,403 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.982G>C | Exon 6 | 101,398,387 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.999+2T>C | Intron 6 | 101,398,368 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.1000-1G>A | Intron 6 | 101,398,100 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.1000-1G>C | Intron 6 | 101,398,100 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.1000-10G>A | Intron 6 | 101,398,109 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.1019G>A | Exon 7 | 101,398,080 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.1285del | Exon 7 | 101,397,813 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| C12X | c.36C>A | Exon 1 | 101,407,868 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| C52G | c.154T>G | Exon 1 | 101,407,750 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| C52Lfs*4 | c.154dup | Exon 1 | 101,407,749 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| C52R | c.154T>C | Exon 1 | 101,407,750 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| C52S | c.155G>C | Exon 1 | 101,407,749 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| C52Y | c.155G>A | Exon 1 | 101,407,749 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| C56Y | c.167G>A | Exon 1 | 101,407,737 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| C63Y | c.188G>A | Exon 1 | 101,407,716 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| C94F | c.281G>T | Exon 2 | 101,403,899 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| C94S | c.280T>A | Exon 2 | 101,403,900 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| C94Y | c.281G>A | Exon 2 | 101,403,899 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| C142X | c.426C>A | Exon 3 | 101,401,753 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| C172G | c.514T>G | Exon 3 | 101,401,665 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| C172R | c.514T>C | Exon 3 | 101,401,665 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| C172Y | c.515G>A | Exon 3 | 101,401,664 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| C174R | c.520T>C | Exon 3 | 101,401,659 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| C174Vfs*18 | c.520del | Exon 3 | 101,401,658 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| C202R | c.604T>C | Exon 4 | 101,400,701 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| C202W | c.606T>G | Exon 4 | 101,400,699 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| C202Y | c.605G>A | Exon 4 | 101,400,700 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| C223Y | c.668G>A | Exon 5 | 101,398,918 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| C378R | c.1132T>C | Exon 7 | 101,397,967 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| C378Y | c.1133G>A | Exon 7 | 101,397,966 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| D25Pfs*101 | c.59_72dup | Exon 1 | 101,407,831 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| D92G | c.275A>G | Exon 2 | 101,403,905 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| D92H | c.274G>C | Exon 2 | 101,403,906 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| D92N | c.274G>A | Exon 2 | 101,403,906 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| D92V | c.275A>T | Exon 2 | 101,403,905 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| D92Y | c.274G>T | Exon 2 | 101,403,906 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| D93G | c.278A>G | Exon 2 | 101,403,902 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| D93N | c.277G>A | Exon 2 | 101,403,903 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| D93X | c.273_276dup | Exon 2 | 101,403,903 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| D109G | c.326A>G | Exon 2 | 101,403,854 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| D136Y | c.406G>T | Exon 3 | 101,401,773 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| D155E | c.465T>A | Exon 3 | 101,401,714 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| D234del | c.700_702del | Exon 5 | 101,398,883 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |