| - GRCh37:
- Chr12:21713408
- GRCh38:
- Chr12:21560474
| GYS2 | T361fs | not provided, Glycogen storage disease | Pathogenic/Likely pathogenic
(Oct 11, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:48538822
- GRCh38:
- Chr12:48145039
| PFKM | P618fs, P676fs, P626fs, P739fs, P637fs, P639fs, P668fs, P716fs, P771fs | not provided, Glycogen storage disease, type VII, Glycogen storage disease
| Pathogenic
(Oct 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:100382265
- GRCh38:
- Chr1:99916709
| AGL | R1487*, R1471* | Glycogen storage disease type III, Glycogen storage disease | Conflicting interpretations of pathogenicity
(Oct 7, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr17:78082617
- GRCh38:
- Chr17:80108818
| GAA | M439K | Glycogen storage disease, type II | Pathogenic
(Jun 3, 2022) | reviewed by expert panel
FDA Recognized Database |
| - GRCh37:
- Chr17:78090815
- GRCh38:
- Chr17:80117016
| GAA | W746C | Glycogen storage disease, type II | Pathogenic
(Oct 26, 2021) | reviewed by expert panel
FDA Recognized Database |
| - GRCh37:
- Chr3:81698005
- GRCh38:
- Chr3:81648854
| GBE1 | | GBE1-Related Disorders, Glycogen storage disease, type IV, Glycogen storage disease IV, classic hepatic,
Adult polyglucosan body disease, Glycogen storage disease, type IV, not provided,
Glycogen storage disease, type IV, Glycogen storage disease | Pathogenic
(Nov 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:21721886
- GRCh38:
- Chr12:21568952
| GYS2 | R246* | not provided, Glycogen storage disorder due to hepatic glycogen synthase deficiency, Glycogen storage disease,
See cases | Pathogenic/Likely pathogenic
(Aug 16, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:41063408
- GRCh38:
- Chr17:42911391
| G6PC1 | Q347* | Inborn genetic diseases, not provided, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
| Pathogenic
(Feb 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:41055964
- GRCh38:
- Chr17:42903947
| G6PC1 | R83C | Inborn genetic diseases, not provided, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA,
Glycogen storage disease, Hypoglycemia, Short stature
| Pathogenic
(Jan 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:118895981-118895982
- GRCh38:
- Chr11:119025271-119025272
| SLC37A4 | L275fs, L348fs, L370fs | Inborn genetic diseases, Phosphate transport defect, Congenital disorder of glycosylation, type IIw,
Glucose-6-phosphate transport defect, Congenital disorder of glycosylation, type IIw, not provided,
Glucose-6-phosphate transport defect, Phosphate transport defect, Glycogen storage disease
| Pathogenic
(Feb 23, 2023) | criteria provided, multiple submitters, no conflicts |