Links from MedGen
Items: 6
| Gene(s) | Protein change | Condition(s) | Clinical significance
(Last reviewed) | Review status |
|---|
| - GRCh37:
- Chr1:100316615-100316616
- GRCh38:
- Chr1:99851059-99851060
| AGL | Q6fs | not provided, Glycogen storage disease type III, Glycogen storage disease IIIb
| Pathogenic/Likely pathogenic
(Oct 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:100381047
- GRCh38:
- Chr1:99915491
| AGL | | not provided, Glycogen storage disease type III | Conflicting interpretations of pathogenicity
(Apr 27, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:100346731
- GRCh38:
- Chr1:99881175
| AGL | Q651fs, Q667fs | Glycogen storage disease IIIb | Pathogenic
(Jul 31, 2000) | no assertion criteria provided |
| - GRCh37:
- Chr1:100381954
- GRCh38:
- Chr1:99916398
| AGL | | not provided, Glycogen storage disease type III | Pathogenic/Likely pathogenic
(Oct 31, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:100346885
- GRCh38:
- Chr1:99881329
| AGL | W680*, W664* | not provided, Glycogen storage disease type III | Pathogenic/Likely pathogenic
(Oct 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:100316614
- GRCh38:
- Chr1:99851058
| AGL | Q6* | not provided, Glycogen storage disease type III | Pathogenic/Likely pathogenic
(Sep 11, 2022) | criteria provided, multiple submitters, no conflicts |