ClinVar for MedGen (Select 148252) - ClinVar

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 6191891.	NM_000152.5(GAA):c.-32-18C>G GRCh37: Chr17:78078336 GRCh38: Chr17:80104537	GAA		Glycogen storage disease type II, infantile	Uncertain significance (Feb 19, 2019)	criteria provided, single submitter
Select item 40292.	NM_000152.5(GAA):c.1935C>A (p.Asp645Glu) GRCh37: Chr17:78086721 GRCh38: Chr17:80112922	GAA	D645E	Glycogen storage disease, type II	Pathogenic (Sep 7, 2021)	reviewed by expert panel FDA Recognized Database
Select item 40283.	NM_000152.5(GAA):c.2707_2709del (p.Lys903del) GRCh37: Chr17:78092510-78092512 GRCh38: Chr17:80118711-80118713	GAA	K903del	Glycogen storage disease, type II	Likely pathogenic (Aug 31, 2021)	criteria provided, single submitter
Select item 40254.	NM_000152.5(GAA):c.896T>G (p.Leu299Arg) GRCh37: Chr17:78081636 GRCh38: Chr17:80107837	GAA	L299R	Glycogen storage disease, type II	Likely pathogenic (May 11, 2022)	reviewed by expert panel FDA Recognized Database
Select item 40225.	NM_000152.5(GAA):c.1561G>A (p.Glu521Lys) GRCh37: Chr17:78084749 GRCh38: Chr17:80110950	GAA	E521K	not provided, Glycogen storage disease, type II	Pathogenic/Likely pathogenic (Feb 21, 2023)	criteria provided, multiple submitters, no conflicts
Select item 40216.	NM_000152.5(GAA):c.953T>C (p.Met318Thr) GRCh37: Chr17:78081693 GRCh38: Chr17:80107894	GAA	M318T	Glycogen storage disease, type II	Pathogenic (Sep 6, 2022)	reviewed by expert panel FDA Recognized Database

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