Variants
GLA variants
Predicted effect: Frameshift. 54 of 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.
| Variant | HGVS c. | Exon or intron | Position (GRCh38) | ClinVar classification | Review status |
|---|---|---|---|---|---|
| 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 |
| A288Vfs*29 | c.863del | Exon 6 | 101,398,505 | Pathogenic/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 |
| 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.782del | Exon 5 | 101,398,803 | 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 | |
| C52Lfs*4 | c.154dup | Exon 1 | 101,407,749 | 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 |
| D25Pfs*101 | c.59_72dup | Exon 1 | 101,407,831 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E7Nfs*114 | c.18del | Exon 1 | 101,407,885 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E341Dfs*7 | c.1023del | Exon 7 | 101,398,075 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E341Nfs*7 | c.1021del | Exon 7 | 101,398,077 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E398Gfs*5 | c.1193_1196del | Exon 7 | 101,397,902 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| G11Afs*110 | c.32del | Exon 1 | 101,407,871 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| G43Afs*78 | c.128del | Exon 1 | 101,407,775 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| G144Afs*21 | c.431del | Exon 3 | 101,401,747 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| G183Vfs*9 | c.548del | Exon 4 | 101,400,756 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| G261Vfs*8 | c.777del | Exon 5 | 101,398,808 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| G346Afs*2 | c.1037del | Exon 7 | 101,398,061 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| H9Lfs*112 | c.26del | Exon 1 | 101,407,877 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| H302Tfs*13 | c.902dup | Exon 6 | 101,398,466 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| I242Yfs*8 | c.723dup | Exon 5 | 101,398,862 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| I317Nfs*16 | c.947dup | Exon 6 | 101,398,421 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| I319Lfs*31 | c.950_954dup | Exon 6 | 101,398,414 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| K240Efs*9 | c.718_719del | Exon 5 | 101,398,866 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| L16Ffs*105 | c.45del | Exon 1 | 101,407,858 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| L189Wfs*3 | c.564del | Exon 4 | 101,400,740 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| L275Qfs*23 | c.824_825del | Exon 6 | 101,398,543 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| L324Wfs*24 | c.969del | Exon 6 | 101,398,399 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| M187Vfs*6 | c.559_560del | Exon 4 | 101,400,744 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| M284Dfs*15 | c.848dup | Exon 6 | 101,398,520 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| M353Dfs*21 | c.1057_1058del | Exon 7 | 101,398,040 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| N139Kfs*2 | c.413dup | Exon 3 | 101,401,765 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| N278Kfs*21 | c.833dup | Exon 6 | 101,398,535 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| N320Rfs*27 | c.959_962del | Exon 6 | 101,398,406 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| N355Kfs*20 | c.1064dup | Exon 7 | 101,398,034 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| P380Lfs*11 | c.1139del | Exon 7 | 101,397,959 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| Q99Kfs*22 | c.295del | Exon 2 | 101,403,884 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| Q330Sfs*18 | c.988del | Exon 6 | 101,398,380 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| Q333Efs*14 | c.996_999del | Intron 6 | 101,398,369 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R17Pfs*12 | c.50_54del | Exon 1 | 101,407,849 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R332Kfs*7 | c.994dup | Exon 6 | 101,398,374 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R332Tfs*6 | c.993_994del | Exon 6 | 101,398,374 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| S102Qfs*19 | c.304del | Exon 2 | 101,403,875 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| S345Rfs*29 | c.1033_1034del | Exon 7 | 101,398,064 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| S401Ffs*33 | c.1201dup | Exon 7 | 101,397,897 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| T412Sfs*21 | c.1235_1236del | Exon 7 | 101,397,862 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| V376Pfs*10 | c.1125_1140del | Exon 7 | 101,397,958 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| W162Gfs*3 | c.484del | Exon 3 | 101,401,694 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| Y216Lfs*16 | c.646dup | Exon 5 | 101,398,939 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| Y329Tfs*19 | c.984del | Exon 6 | 101,398,384 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| Y397Mfs*7 | c.1188del | Exon 7 | 101,397,910 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |