Variants
GLA variants
Predicted effect: Splice site or region. 25 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 | Exon or intron | Position (GRCh38) | ClinVar classification | Review status |
|---|---|---|---|---|
| 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.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.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.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.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 |