Variants
GLA variants
Predicted effect: In-frame insertion or deletion. 6 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 |
|---|---|---|---|---|---|
| D234del | c.700_702del | Exon 5 | 101,398,883 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E358del | c.1072_1074del | Exon 7 | 101,398,024 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| F113_R118del | c.337_354del | Exon 2 | 101,403,825 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| N355_I359del | c.1062_1076del | Exon 7 | 101,398,022 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| P205_Y207del | c.613_621del | Exon 4 | 101,400,683 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R404del | c.1212_1214del | Exon 7 | 101,397,884 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |