GAA[gene] AND (clinsig_pathogenic[prop] OR clinsig_likely_pathogenic[p - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 19806601.	NM_000152.5(GAA):c.-32-17_-32-10delinsTCCCTGCTGAGCCTCCTACAGGCCTCCCGC GRCh37: Chr17:78078337-78078344 GRCh38: Chr17:80104538-80104545	GAA		Glycogen storage disease, type II	Likely pathogenic (Oct 6, 2022)	criteria provided, single submitter
Select item 5265562.	NC_000017.11:g.(?_80104542)_(80105914_?)del GRCh37: Chr17:78078341-78079713 GRCh38: Chr17:80104542-80105914	GAA		Glycogen storage disease, type II	Pathogenic (Jul 25, 2022)	criteria provided, single submitter
Select item 3716223.	NM_000152.5(GAA):c.-32-3C>A GRCh37: Chr17:78078351 GRCh38: Chr17:80104552	GAA		Glycogen storage disease, type II	Pathogenic/Likely pathogenic (Jul 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 9728174.	NM_000152.5(GAA):c.-32-2A>G GRCh37: Chr17:78078352 GRCh38: Chr17:80104553	GAA		Glycogen storage disease, type II	Pathogenic/Likely pathogenic (Feb 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 5574295.	NM_000152.5(GAA):c.-32-1G>C GRCh37: Chr17:78078353 GRCh38: Chr17:80104554	GAA		Glycogen storage disease, type II	Likely pathogenic (Jan 24, 2020)	reviewed by expert panel FDA Recognized Database
Select item 9847986.	NM_000152.5(GAA):c.1A>T (p.Met1Leu) GRCh37: Chr17:78078386 GRCh38: Chr17:80104587	GAA	M1L	Glycogen storage disease, type II	Likely pathogenic (Jun 16, 2020)	reviewed by expert panel FDA Recognized Database
Select item 1887857.	NM_000152.5(GAA):c.1A>G (p.Met1Val) GRCh37: Chr17:78078386 GRCh38: Chr17:80104587	GAA	M1V	Glycogen storage disease, type II	Pathogenic/Likely pathogenic (May 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 9848028.	NM_000152.5(GAA):c.2T>C (p.Met1Thr) GRCh37: Chr17:78078387 GRCh38: Chr17:80104588	GAA	M1T	Glycogen storage disease, type II	Likely pathogenic (Jun 16, 2020)	reviewed by expert panel FDA Recognized Database
Select item 13229699.	NM_000152.5(GAA):c.3_4delinsTT (p.Met1_Gly2delinsIleTer) GRCh37: Chr17:78078388-78078389 GRCh38: Chr17:80104589-80104590	GAA		not provided	Pathogenic (Oct 22, 2019)	criteria provided, single submitter
Select item 97281610.	NM_000152.5(GAA):c.3G>A (p.Met1Ile) GRCh37: Chr17:78078388 GRCh38: Chr17:80104589	GAA	M1I	Glycogen storage disease, type II	Likely pathogenic (Jun 12, 2021)	criteria provided, multiple submitters, no conflicts
Select item 56037711.	NM_000152.5(GAA):c.4G>T (p.Gly2Ter) GRCh37: Chr17:78078389 GRCh38: Chr17:80104590	GAA	G2*	Glycogen storage disease, type II	Likely pathogenic (May 4, 2020)	reviewed by expert panel FDA Recognized Database
Select item 55504012.	NM_000152.5(GAA):c.55del (p.Val19fs) GRCh37: Chr17:78078440 GRCh38: Chr17:80104641	GAA	V19fs	Glycogen storage disease, type II	Likely pathogenic (Jun 16, 2020)	reviewed by expert panel FDA Recognized Database
Select item 42659313.	NM_000152.5(GAA):c.118C>T (p.Arg40Ter) GRCh37: Chr17:78078503 GRCh38: Chr17:80104704	GAA	R40*	Glycogen storage disease, type II	Pathogenic (Apr 6, 2020)	reviewed by expert panel FDA Recognized Database
Select item 63322314.	NM_000152.5(GAA):c.148_859-11del GRCh37: Chr17:78078528-78081583 GRCh38: Chr17:80104729-80107784	GAA		Glycogen storage disease, type II	Pathogenic (Dec 11, 2017)	criteria provided, single submitter
Select item 93865315.	NM_000152.5(GAA):c.148G>T (p.Glu50Ter) GRCh37: Chr17:78078533 GRCh38: Chr17:80104734	GAA	E50*	Glycogen storage disease, type II	Pathogenic (Aug 22, 2019)	criteria provided, single submitter
Select item 37012416.	NM_000152.5(GAA):c.169C>T (p.Gln57Ter) GRCh37: Chr17:78078554 GRCh38: Chr17:80104755	GAA	Q57*	Glycogen storage disease, type II	Pathogenic (Dec 5, 2019)	reviewed by expert panel FDA Recognized Database
Select item 18890317.	NM_000152.5(GAA):c.172C>T (p.Gln58Ter) GRCh37: Chr17:78078557 GRCh38: Chr17:80104758	GAA	Q58*	Glycogen storage disease, type II	Pathogenic (Apr 20, 2020)	reviewed by expert panel FDA Recognized Database
Select item 107416018.	NM_000152.5(GAA):c.199del (p.Asp67fs) GRCh37: Chr17:78078582 GRCh38: Chr17:80104783	GAA	D67fs	Glycogen storage disease, type II	Pathogenic (Jan 21, 2020)	criteria provided, single submitter
Select item 37130219.	NM_000152.5(GAA):c.236_246del (p.Pro79fs) GRCh37: Chr17:78078615-78078625 GRCh38: Chr17:80104816-80104826	GAA	P79fs	Glycogen storage disease, type II	Pathogenic (Jun 16, 2020)	reviewed by expert panel FDA Recognized Database
Select item 55736020.	NM_000152.5(GAA):c.241C>T (p.Gln81Ter) GRCh37: Chr17:78078626 GRCh38: Chr17:80104827	GAA	Q81*	Glycogen storage disease, type II	Pathogenic (Jun 15, 2020)	reviewed by expert panel FDA Recognized Database
Select item 169354621.	NM_000152.5(GAA):c.246C>A (p.Cys82Ter) GRCh37: Chr17:78078631 GRCh38: Chr17:80104832	GAA	C82*	Glycogen storage disease, type II	Pathogenic (Jan 4, 2022)	reviewed by expert panel FDA Recognized Database
Select item 28284222.	NM_000152.5(GAA):c.258dup (p.Asn87fs) GRCh37: Chr17:78078636-78078637 GRCh38: Chr17:80104837-80104838	GAA	N87fs	Glycogen storage disease, type II	Pathogenic (Sep 28, 2021)	reviewed by expert panel FDA Recognized Database
Select item 55159223.	NM_000152.5(GAA):c.258del (p.Asn87fs) GRCh37: Chr17:78078637 GRCh38: Chr17:80104838	GAA	N87fs	Glycogen storage disease, type II	Likely pathogenic (Aug 19, 2021)	reviewed by expert panel FDA Recognized Database
Select item 198915124.	NM_000152.5(GAA):c.265C>A (p.Arg89Ser) GRCh37: Chr17:78078650 GRCh38: Chr17:80104851	GAA	R89S	Glycogen storage disease, type II	Likely pathogenic (May 30, 2022)	criteria provided, single submitter
Select item 65448225.	NM_000152.5(GAA):c.276C>A (p.Cys92Ter) GRCh37: Chr17:78078661 GRCh38: Chr17:80104862	GAA	C92*	Glycogen storage disease, type II	Likely pathogenic (May 4, 2020)	reviewed by expert panel FDA Recognized Database
Select item 37045826.	NM_000152.5(GAA):c.281_282del (p.Pro94fs) GRCh37: Chr17:78078666-78078667 GRCh38: Chr17:80104867-80104868	GAA	P94fs	Glycogen storage disease, type II	Likely pathogenic (Jun 14, 2020)	reviewed by expert panel FDA Recognized Database
Select item 107399627.	NM_000152.5(GAA):c.282del (p.Asp95fs) GRCh37: Chr17:78078667 GRCh38: Chr17:80104868	GAA	D95fs	Glycogen storage disease, type II	Pathogenic (Sep 25, 2020)	criteria provided, single submitter
Select item 132444128.	NM_000152.5(GAA):c.301G>T (p.Glu101Ter) GRCh37: Chr17:78078686 GRCh38: Chr17:80104887	GAA	E101*	not provided	Likely pathogenic (May 6, 2021)	criteria provided, single submitter
Select item 145356229.	NM_000152.5(GAA):c.304C>T (p.Gln102Ter) GRCh37: Chr17:78078689 GRCh38: Chr17:80104890	GAA	Q102*	Glycogen storage disease, type II	Pathogenic (Feb 11, 2021)	criteria provided, single submitter
Select item 92892930.	NM_000152.5(GAA):c.307T>C (p.Cys103Arg) GRCh37: Chr17:78078692 GRCh38: Chr17:80104893	GAA	C103R	Glycogen storage disease, type II	Likely pathogenic (Apr 29, 2019)	criteria provided, single submitter
Select item 9248331.	NM_000152.5(GAA):c.307T>G (p.Cys103Gly) GRCh37: Chr17:78078692 GRCh38: Chr17:80104893	GAA	C103G	Glycogen storage disease, type II	Pathogenic (Sep 21, 2022)	reviewed by expert panel FDA Recognized Database
Select item 150263432.	NM_000152.5(GAA):c.308G>A (p.Cys103Tyr) GRCh37: Chr17:78078693 GRCh38: Chr17:80104894	GAA	C103Y	Glycogen storage disease, type II	Likely pathogenic (Sep 1, 2021)	criteria provided, single submitter
Select item 140094633.	NM_000152.5(GAA):c.309C>G (p.Cys103Trp) GRCh37: Chr17:78078694 GRCh38: Chr17:80104895	GAA	C103W	Glycogen storage disease, type II	Pathogenic (Sep 8, 2021)	criteria provided, single submitter
Select item 132296334.	NM_000152.5(GAA):c.309C>A (p.Cys103Ter) GRCh37: Chr17:78078694 GRCh38: Chr17:80104895	GAA	C103*	not provided	Pathogenic (Apr 4, 2020)	criteria provided, single submitter
Select item 84786535.	NM_000152.5(GAA):c.322T>A (p.Cys108Ser) GRCh37: Chr17:78078707 GRCh38: Chr17:80104908	GAA	C108S	Glycogen storage disease, type II	Pathogenic (Aug 28, 2021)	criteria provided, single submitter
Select item 106864036.	NM_000152.5(GAA):c.340_341insT (p.Lys114fs) GRCh37: Chr17:78078725-78078726 GRCh38: Chr17:80104926-80104927	GAA	K114fs	Glycogen storage disease, type II	Pathogenic (Aug 28, 2021)	criteria provided, single submitter
Select item 52652337.	NM_000152.5(GAA):c.342del (p.Lys114fs) GRCh37: Chr17:78078727 GRCh38: Chr17:80104928	GAA	K114fs	Glycogen storage disease, type II	Likely pathogenic (Jun 14, 2020)	reviewed by expert panel FDA Recognized Database
Select item 18899638.	NM_000152.5(GAA):c.343C>T (p.Gln115Ter) GRCh37: Chr17:78078728 GRCh38: Chr17:80104929	GAA	Q115*	Glycogen storage disease, type II	Likely pathogenic (May 19, 2020)	reviewed by expert panel FDA Recognized Database
Select item 55389439.	NM_000152.5(GAA):c.352C>T (p.Gln118Ter) GRCh37: Chr17:78078737 GRCh38: Chr17:80104938	GAA	Q118*	Glycogen storage disease, type II	Pathogenic (May 19, 2020)	reviewed by expert panel FDA Recognized Database
Select item 145436440.	NM_000152.5(GAA):c.355G>T (p.Gly119Ter) GRCh37: Chr17:78078740 GRCh38: Chr17:80104941	GAA	G119*	Glycogen storage disease, type II	Pathogenic (Dec 19, 2020)	criteria provided, single submitter
Select item 136977841.	NM_000152.5(GAA):c.361C>T (p.Gln121Ter) GRCh37: Chr17:78078746 GRCh38: Chr17:80104947	GAA	Q121*	Glycogen storage disease, type II	Pathogenic (Jun 14, 2021)	criteria provided, single submitter
Select item 18905942.	NM_000152.5(GAA):c.365del (p.Met122fs) GRCh37: Chr17:78078750 GRCh38: Chr17:80104951	GAA	M122fs	Glycogen storage disease, type II	Pathogenic (Aug 19, 2021)	reviewed by expert panel FDA Recognized Database
Select item 55671643.	NM_000152.5(GAA):c.376del (p.Trp126fs) GRCh37: Chr17:78078761 GRCh38: Chr17:80104962	GAA	W126fs	Glycogen storage disease, type II	Likely pathogenic (Aug 19, 2021)	reviewed by expert panel FDA Recognized Database
Select item 93290444.	NM_000152.5(GAA):c.377G>A (p.Trp126Ter) GRCh37: Chr17:78078762 GRCh38: Chr17:80104963	GAA	W126*	Glycogen storage disease, type II	Pathogenic (Apr 20, 2020)	reviewed by expert panel FDA Recognized Database
Select item 93800845.	NM_000152.5(GAA):c.378G>A (p.Trp126Ter) GRCh37: Chr17:78078763 GRCh38: Chr17:80104964	GAA	W126*	Glycogen storage disease, type II	Pathogenic (Jun 22, 2022)	criteria provided, single submitter
Select item 55274746.	NM_000152.5(GAA):c.379_380del (p.Cys127fs) GRCh37: Chr17:78078763-78078764 GRCh38: Chr17:80104964-80104965	GAA	C127fs	Glycogen storage disease, type II	Pathogenic (Aug 19, 2021)	reviewed by expert panel FDA Recognized Database
Select item 37158047.	NM_000152.5(GAA):c.393del (p.Ser132fs) GRCh37: Chr17:78078776 GRCh38: Chr17:80104977	GAA	S132fs	Glycogen storage disease, type II	Likely pathogenic (Jun 15, 2020)	reviewed by expert panel FDA Recognized Database
Select item 93290648.	NM_000152.5(GAA):c.399C>A (p.Tyr133Ter) GRCh37: Chr17:78078784 GRCh38: Chr17:80104985	GAA	Y133*	Glycogen storage disease, type II	Pathogenic (Feb 14, 2020)	reviewed by expert panel FDA Recognized Database
Select item 55409649.	NM_000152.5(GAA):c.437del (p.Met146fs) GRCh37: Chr17:78078822 GRCh38: Chr17:80105023	GAA	M146fs	Glycogen storage disease, type II	Pathogenic (Aug 24, 2021)	reviewed by expert panel FDA Recognized Database
Select item 132750350.	NM_000152.5(GAA):c.444C>G (p.Tyr148Ter) GRCh37: Chr17:78078829 GRCh38: Chr17:80105030	GAA	Y148*	Glycogen storage disease, type II	Pathogenic (Dec 2, 2021)	reviewed by expert panel FDA Recognized Database
Select item 55153051.	NM_000152.5(GAA):c.448dup (p.Ala150fs) GRCh37: Chr17:78078831-78078832 GRCh38: Chr17:80105032-80105033	GAA	A150fs	Glycogen storage disease, type II	Likely pathogenic (Aug 31, 2020)	reviewed by expert panel FDA Recognized Database
Select item 144792852.	NM_000152.5(GAA):c.456_457dup (p.Thr153fs) GRCh37: Chr17:78078840-78078841 GRCh38: Chr17:80105041-80105042	GAA	T153fs	Glycogen storage disease, type II	Pathogenic (Jul 26, 2021)	criteria provided, single submitter
Select item 93290253.	NM_000152.5(GAA):c.461_469del (p.Arg154_Thr156del) GRCh37: Chr17:78078842-78078850 GRCh38: Chr17:80105043-80105051	GAA		Glycogen storage disease, type II	Likely pathogenic (May 26, 2020)	reviewed by expert panel FDA Recognized Database
Select item 93044654.	NM_000152.5(GAA):c.461G>C (p.Arg154Pro) GRCh37: Chr17:78078846 GRCh38: Chr17:80105047	GAA	R154P	Glycogen storage disease, type II	Likely pathogenic (Jan 1, 2016)	criteria provided, single submitter
Select item 37150155.	NM_000152.5(GAA):c.471del (p.Thr158fs) GRCh37: Chr17:78078852 GRCh38: Chr17:80105053	GAA	T158fs	Glycogen storage disease, type II	Likely pathogenic (Jul 21, 2020)	reviewed by expert panel FDA Recognized Database
Select item 59614656.	NM_000152.5(GAA):c.482_483del (p.Pro161fs) GRCh37: Chr17:78078865-78078866 GRCh38: Chr17:80105066-80105067	GAA	P161fs	Glycogen storage disease, type II	Pathogenic (Nov 2, 2020)	reviewed by expert panel FDA Recognized Database
Select item 132297357.	NM_000152.5(GAA):c.511del (p.Asp170_Val171insTer) GRCh37: Chr17:78078896 GRCh38: Chr17:80105097	GAA		not provided	Pathogenic (Oct 8, 2021)	criteria provided, single submitter
Select item 18905758.	NM_000152.5(GAA):c.525_526del (p.Asn177fs) GRCh37: Chr17:78078910-78078911 GRCh38: Chr17:80105111-80105112	GAA	N177fs	Glycogen storage disease, type II	Pathogenic (Nov 2, 2020)	reviewed by expert panel FDA Recognized Database
Select item 403359.	NM_000152.5(GAA):c.525del (p.Glu176fs) GRCh37: Chr17:78078910 GRCh38: Chr17:80105111	GAA	E176fs	Glycogen storage disease, type II	Pathogenic (Nov 2, 2020)	reviewed by expert panel FDA Recognized Database
Select item 135019460.	NM_000152.5(GAA):c.528_529del (p.Asn177fs) GRCh37: Chr17:78078911-78078912 GRCh38: Chr17:80105112-80105113	GAA	N177fs	Glycogen storage disease, type II	Pathogenic (Jul 21, 2021)	criteria provided, single submitter
Select item 98229661.	NM_000152.5(GAA):c.546+2_546+5del GRCh37: Chr17:78078931-78078934 GRCh38: Chr17:80105132-80105135	GAA		Glycogen storage disease, type II	Pathogenic/Likely pathogenic (Sep 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 37063762.	NM_000152.5(GAA):c.546G>T (p.Thr182=) GRCh37: Chr17:78078931 GRCh38: Chr17:80105132	GAA		Glycogen storage disease, type II	Pathogenic (Dec 2, 2021)	reviewed by expert panel FDA Recognized Database
Select item 28105663.	NM_000152.5(GAA):c.546G>C (p.Thr182=) GRCh37: Chr17:78078931 GRCh38: Chr17:80105132	GAA		not provided, Glycogen storage disease, type II	Pathogenic/Likely pathogenic (Sep 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 28095564.	NM_000152.5(GAA):c.546G>A (p.Thr182=) GRCh37: Chr17:78078931 GRCh38: Chr17:80105132	GAA		not provided, Glycogen storage disease, type II	Pathogenic/Likely pathogenic (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 213811265.	NM_000152.5(GAA):c.546+2T>C GRCh37: Chr17:78078933 GRCh38: Chr17:80105134	GAA		Glycogen storage disease, type II	Likely pathogenic (May 30, 2022)	criteria provided, single submitter
Select item 143193766.	NM_000152.5(GAA):c.547-1G>C GRCh37: Chr17:78079547 GRCh38: Chr17:80105748	GAA		Glycogen storage disease, type II	Pathogenic (Aug 12, 2021)	criteria provided, single submitter
Select item 37027667.	NM_000152.5(GAA):c.573C>A (p.Tyr191Ter) GRCh37: Chr17:78079574 GRCh38: Chr17:80105775	GAA	Y191*	Glycogen storage disease, type II	Pathogenic (May 19, 2020)	reviewed by expert panel FDA Recognized Database
Select item 212316668.	NM_000152.5(GAA):c.584T>A (p.Leu195Ter) GRCh37: Chr17:78079585 GRCh38: Chr17:80105786	GAA	L195*	Glycogen storage disease, type II	Pathogenic (Apr 8, 2022)	criteria provided, single submitter
Select item 199302069.	NM_000152.5(GAA):c.587del (p.Glu196fs) GRCh37: Chr17:78079588 GRCh38: Chr17:80105789	GAA	E196fs	Glycogen storage disease, type II	Pathogenic (May 11, 2022)	criteria provided, single submitter
Select item 172441970.	NM_000152.5(GAA):c.596_600delinsGTGT (p.His199fs) GRCh37: Chr17:78079597-78079601 GRCh38: Chr17:80105798-80105802	GAA	H199fs	Glycogen storage disease, type II	Likely pathogenic (Feb 14, 2022)	criteria provided, single submitter
Select item 142335871.	NM_000152.5(GAA):c.639del (p.Ser214fs) GRCh37: Chr17:78079640 GRCh38: Chr17:80105841	GAA	S214fs	Glycogen storage disease, type II	Pathogenic (Nov 17, 2021)	criteria provided, single submitter
Select item 93590072.	NM_000152.5(GAA):c.643G>T (p.Glu215Ter) GRCh37: Chr17:78079644 GRCh38: Chr17:80105845	GAA	E215*	Glycogen storage disease, type II	Pathogenic (Sep 1, 2021)	criteria provided, single submitter
Select item 140949973.	NM_000152.5(GAA):c.658dup (p.Val220fs) GRCh37: Chr17:78079655-78079656 GRCh38: Chr17:80105856-80105857	GAA	V220fs	Glycogen storage disease, type II	Pathogenic (Mar 24, 2021)	criteria provided, single submitter
Select item 18906574.	NM_000152.5(GAA):c.655G>A (p.Gly219Arg) GRCh37: Chr17:78079656 GRCh38: Chr17:80105857	GAA	G219R	Glycogen storage disease, type II	Pathogenic (Apr 19, 2020)	reviewed by expert panel FDA Recognized Database
Select item 18918875.	NM_000152.5(GAA):c.670C>T (p.Arg224Trp) GRCh37: Chr17:78079671 GRCh38: Chr17:80105872	GAA	R224W	Glycogen storage disease, type II	Pathogenic (May 3, 2020)	reviewed by expert panel FDA Recognized Database
Select item 97279476.	NM_000152.5(GAA):c.671G>C (p.Arg224Pro) GRCh37: Chr17:78079672 GRCh38: Chr17:80105873	GAA	R224P	Glycogen storage disease, type II	Likely pathogenic (Jan 22, 2020)	criteria provided, single submitter
Select item 66458277.	NM_000152.5(GAA):c.671G>A (p.Arg224Gln) GRCh37: Chr17:78079672 GRCh38: Chr17:80105873	GAA	R224Q	Glycogen storage disease, type II, not provided	Pathogenic/Likely pathogenic (Aug 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 107280678.	NM_000152.5(GAA):c.683dup (p.Arg229fs) GRCh37: Chr17:78079682-78079683 GRCh38: Chr17:80105883-80105884	GAA	R229fs	Glycogen storage disease, type II	Pathogenic (Oct 21, 2020)	criteria provided, single submitter
Select item 97279379.	NM_000152.5(GAA):c.692+1G>C GRCh37: Chr17:78079694 GRCh38: Chr17:80105895	GAA		Glycogen storage disease, type II	Pathogenic (Apr 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 97279280.	NM_000152.5(GAA):c.692+1G>A GRCh37: Chr17:78079694 GRCh38: Chr17:80105895	GAA		Glycogen storage disease, type II	Pathogenic (Jan 22, 2020)	criteria provided, single submitter
Select item 55387481.	NM_000152.5(GAA):c.692+2T>C GRCh37: Chr17:78079695 GRCh38: Chr17:80105896	GAA		Glycogen storage disease, type II	Pathogenic/Likely pathogenic (Jan 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 52653282.	NM_000152.5(GAA):c.692+5G>T GRCh37: Chr17:78079698 GRCh38: Chr17:80105899	GAA		not provided, Glycogen storage disease, type II	Pathogenic/Likely pathogenic (Jan 23, 2023)	criteria provided, multiple submitters, no conflicts
Select item 52655783.	NC_000017.11:g.(?_80107537)_(80113386_?)del GRCh37: Chr17:78081336-78087185 GRCh38: Chr17:80107537-80113386	GAA		Glycogen storage disease, type II	Likely pathogenic (Dec 11, 2017)	criteria provided, single submitter
Select item 209911384.	NM_000152.5(GAA):c.693-2A>C GRCh37: Chr17:78081354 GRCh38: Chr17:80107555	GAA		Glycogen storage disease, type II	Likely pathogenic (Mar 13, 2022)	criteria provided, single submitter
Select item 150039085.	NM_000152.5(GAA):c.693-1G>C GRCh37: Chr17:78081355 GRCh38: Chr17:80107556	GAA		Glycogen storage disease, type II	Likely pathogenic (Aug 15, 2021)	criteria provided, single submitter
Select item 55839386.	NM_000152.5(GAA):c.711_712dup (p.Pro238fs) GRCh37: Chr17:78081371-78081372 GRCh38: Chr17:80107572-80107573	GAA	P238fs	not provided, Glycogen storage disease, type II	Likely pathogenic (Jan 25, 2023)	criteria provided, multiple submitters, no conflicts
Select item 55685387.	NM_000152.5(GAA):c.716del (p.Leu239fs) GRCh37: Chr17:78081379 GRCh38: Chr17:80107580	GAA	L239fs	Glycogen storage disease, type II	Pathogenic (Sep 20, 2020)	reviewed by expert panel FDA Recognized Database
Select item 93290388.	NM_000152.5(GAA):c.722_723del (p.Phe241fs) GRCh37: Chr17:78081384-78081385 GRCh38: Chr17:80107585-80107586	GAA	F241fs	Glycogen storage disease, type II	Pathogenic (Jan 21, 2020)	reviewed by expert panel FDA Recognized Database
Select item 44987189.	NM_000152.5(GAA):c.727G>A (p.Asp243Asn) GRCh37: Chr17:78081390 GRCh38: Chr17:80107591	GAA	D243N	not provided	Likely pathogenic (Aug 8, 2017)	criteria provided, single submitter
Select item 28850590.	NM_000152.5(GAA):c.736del (p.Leu246fs) GRCh37: Chr17:78081398 GRCh38: Chr17:80107599	GAA	L246fs	Glycogen storage disease, type II	Likely pathogenic (Feb 5, 2020)	reviewed by expert panel FDA Recognized Database
Select item 201389991.	NM_000152.5(GAA):c.739C>T (p.Gln247Ter) GRCh37: Chr17:78081402 GRCh38: Chr17:80107603	GAA	Q247*	Glycogen storage disease, type II	Pathogenic (Jul 4, 2022)	criteria provided, single submitter
Select item 97279192.	NM_000152.5(GAA):c.743T>C (p.Leu248Pro) GRCh37: Chr17:78081406 GRCh38: Chr17:80107607	GAA	L248P	not provided, Glycogen storage disease, type II	Likely pathogenic (May 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 55398193.	NM_000152.5(GAA):c.755dup (p.Pro253fs) GRCh37: Chr17:78081417-78081418 GRCh38: Chr17:80107618-80107619	GAA	P253fs	Glycogen storage disease, type II	Pathogenic (Jul 20, 2020)	reviewed by expert panel FDA Recognized Database
Select item 83793794.	NM_000152.5(GAA):c.759del (p.Ser254fs) GRCh37: Chr17:78081420 GRCh38: Chr17:80107621	GAA	S254fs	not provided, Glycogen storage disease, type II	Pathogenic (Jul 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 98480195.	NM_000152.5(GAA):c.763C>T (p.Gln255Ter) GRCh37: Chr17:78081426 GRCh38: Chr17:80107627	GAA	Q255*	Glycogen storage disease, type II	Pathogenic (Jun 16, 2020)	reviewed by expert panel FDA Recognized Database
Select item 55010496.	NM_000152.5(GAA):c.766_767insC (p.Tyr256fs) GRCh37: Chr17:78081429-78081430 GRCh38: Chr17:80107630-80107631	GAA	Y256fs	Glycogen storage disease, type II	Likely pathogenic (Oct 6, 2020)	reviewed by expert panel FDA Recognized Database
Select item 18888097.	NM_000152.5(GAA):c.766_785delinsC (p.Tyr256fs) GRCh37: Chr17:78081429-78081448 GRCh38: Chr17:80107630-80107649	GAA	Y256fs	Glycogen storage disease, type II	Pathogenic (Oct 6, 2020)	reviewed by expert panel FDA Recognized Database
Select item 55653498.	NM_000152.5(GAA):c.768dup (p.Ile257fs) GRCh37: Chr17:78081430-78081431 GRCh38: Chr17:80107631-80107632	GAA	I257fs	Glycogen storage disease, type II	Likely pathogenic (Oct 6, 2020)	reviewed by expert panel FDA Recognized Database
Select item 18880699.	NM_000152.5(GAA):c.784G>A (p.Glu262Lys) GRCh37: Chr17:78081447 GRCh38: Chr17:80107648	GAA	E262K	Glycogen storage disease, type II	Pathogenic (Aug 25, 2021)	reviewed by expert panel FDA Recognized Database
Select item 556117100.	NM_000152.5(GAA):c.796C>T (p.Pro266Ser) GRCh37: Chr17:78081459 GRCh38: Chr17:80107660	GAA	P266S	Glycogen storage disease, type II	Likely pathogenic (Jun 30, 2022)	reviewed by expert panel FDA Recognized Database

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