| - GRCh37:
- Chr3:81586221
- GRCh38:
- Chr3:81537070
| GBE1 | W548C | Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form | Uncertain significance
(Feb 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:81586222
- GRCh38:
- Chr3:81537071
| GBE1 | W548* | Glycogen storage disease, type IV | Pathogenic
(Jan 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:81698002
- GRCh38:
- Chr3:81648851
| GBE1 | | Glycogen storage disease IV, classic hepatic, Glycogen storage disease, type IV | Likely pathogenic
(Jul 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:81692140
- GRCh38:
- Chr3:81642989
| GBE1 | R262C | Glycogen storage disease IV, classic hepatic, Glycogen storage disease, type IV, Adult polyglucosan body disease,
Glycogen storage disease, type IV | Conflicting interpretations of pathogenicity
(Aug 4, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:81695617
- GRCh38:
- Chr3:81646466
| GBE1 | Q236H | GBE1-related condition, Glycogen storage disease, type IV, Glycogen storage disease IV, classic hepatic,
not provided, Glycogen storage disease, type IV | Pathogenic/Likely pathogenic
(Dec 5, 2023) | criteria provided, multiple submitters, no conflicts |
| | GBE1 | | Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form | Pathogenic
(Sep 28, 2004) | no assertion criteria provided |
| - GRCh37:
- Chr3:81586091
- GRCh38:
- Chr3:81536940
| GBE1 | E592* | Glycogen storage disease, type IV, Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form | Pathogenic
(Apr 2, 2009) | no assertion criteria provided |
| - GRCh37:
- Chr3:81586246-81691932
- GRCh38:
- Chr3:81537095-81642781
| GBE1 | | Glycogen storage disease, type IV, Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form | Pathogenic
(Apr 2, 2009) | no assertion criteria provided |
| - GRCh37:
- Chr3:81692142
- GRCh38:
- Chr3:81642991
| GBE1 | | Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form | Pathogenic
(Feb 15, 1996) | no assertion criteria provided |