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Items: 10

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr1:100330092
Chr1:100341011
GRCh38:
Chr1:99864536
Chr1:99875455
AGLGlycogen storage disease type IIIPathogenic
(Sep 23, 2013)
no assertion criteria provided
2.
GRCh37:
Chr1:100316616-100316617
GRCh38:
Chr1:99851060-99851061
AGLGlycogen storage disease type III, Glycogen storage disease IIIb, GLYCOGEN STORAGE DISEASE, TYPE IIIb
Pathogenic
(Jun 13, 2014)
criteria provided, single submitter
3.
GRCh37:
Chr1:100368332
GRCh38:
Chr1:99902776
AGLGlycogen storage disease type IIIPathogenic
(Jun 13, 2014)
criteria provided, single submitter
4.
GRCh37:
Chr1:100350168
GRCh38:
Chr1:99884612
AGLGlycogen storage disease type IIIPathogenic
(Jun 13, 2014)
criteria provided, single submitter
5.
GRCh37:
Chr1:100340950
GRCh38:
Chr1:99875394
AGLGlycogen storage disease type III, Glycogen storage disease IIIaPathogenic
(Sep 6, 2012)
no assertion criteria provided
6.
GRCh37:
Chr1:100379098
GRCh38:
Chr1:99913542
AGLGlycogen storage disease type III, Glycogen storage disease IIIaPathogenic
(Jun 13, 2014)
criteria provided, single submitter
7.
GRCh37:
Chr1:100381954
GRCh38:
Chr1:99916398
AGLGlycogen storage disease type III, Glycogen storage disease IIIa, Glycogen storage disease IIIb,
GLYCOGEN STORAGE DISEASE, TYPE IIIb
Pathogenic/Likely pathogenic
(Sep 30, 2014)
criteria provided, multiple submitters, no conflicts
8.
GRCh37:
Chr1:100382262
GRCh38:
Chr1:99916706
AGLGlycogen storage disease type III, Glycogen storage disease IIIaPathogenic
(Jun 13, 2014)
criteria provided, single submitter
9.
GRCh37:
Chr1:100346885
GRCh38:
Chr1:99881329
AGLGlycogen storage disease type III, Glycogen storage disease IIIb, GLYCOGEN STORAGE DISEASE, TYPE IIIb
Pathogenic
(Jun 13, 2014)
criteria provided, single submitter
10.
GRCh37:
Chr1:100316614
GRCh38:
Chr1:99851058
AGLGlycogen storage disease type III, Glycogen storage disease IIIb, GLYCOGEN STORAGE DISEASE, TYPE IIIb
Pathogenic
(Jun 13, 2014)
criteria provided, single submitter
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