ClinVar for MedGen (Select 331466) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 17098571.	NM_016203.4(PRKAG2):c.320C>G (p.Pro107Arg) GRCh37: Chr7:151478384 GRCh38: Chr7:151781298	PRKAG2	P107R, P63R	Hypertrophic cardiomyopathy 6	Uncertain significance (Oct 22, 2021)	criteria provided, single submitter
Select item 16791452.	NM_016203.4(PRKAG2):c.1073T>A (p.Phe358Tyr) GRCh37: Chr7:151267290 GRCh38: Chr7:151570204	PRKAG2	F117Y, F233Y, F234Y, F314Y, F358Y	Hypertrophic cardiomyopathy 6	Uncertain significance (Mar 24, 2022)	criteria provided, single submitter
Select item 13035643.	NM_016203.4(PRKAG2):c.1295C>T (p.Thr432Met) GRCh37: Chr7:151262910 GRCh38: Chr7:151565824	PRKAG2	T191M, T307M, T308M, T388M, T432M	Wolff-Parkinson-White pattern, Lethal congenital glycogen storage disease of heart, Hypertrophic cardiomyopathy 6, Cardiovascular phenotype, Lethal congenital glycogen storage disease of heart, not provided	Uncertain significance (Jun 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 12846834.	NM_016203.4(PRKAG2):c.1106+19del GRCh37: Chr7:151267238 GRCh38: Chr7:151570152	PRKAG2		Lethal congenital glycogen storage disease of heart, Hypertrophic cardiomyopathy 6, Lethal congenital glycogen storage disease of heart, Wolff-Parkinson-White pattern	Benign/Likely benign (Oct 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 12844165.	NM_016203.4(PRKAG2):c.590C>T (p.Pro197Leu) GRCh37: Chr7:151372600 GRCh38: Chr7:151675514	PRKAG2	P153L, P197L, P73L	Wolff-Parkinson-White pattern, Hypertrophic cardiomyopathy 6, Lethal congenital glycogen storage disease of heart, Lethal congenital glycogen storage disease of heart, Cardiovascular phenotype	Uncertain significance (Nov 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 10004176.	NM_016203.4(PRKAG2):c.187-3C>T GRCh37: Chr7:151478520 GRCh38: Chr7:151781434	PRKAG2		Wolff-Parkinson-White pattern, Lethal congenital glycogen storage disease of heart, Hypertrophic cardiomyopathy 6, Lethal congenital glycogen storage disease of heart	Uncertain significance (Aug 25, 2021)	criteria provided, multiple submitters, no conflicts
Select item 9665827.	NM_016203.4(PRKAG2):c.473G>A (p.Gly158Asp) GRCh37: Chr7:151372717 GRCh38: Chr7:151675631	PRKAG2	G114D, G158D, G34D	Hypertrophic cardiomyopathy 6, Wolff-Parkinson-White pattern, Lethal congenital glycogen storage disease of heart, Lethal congenital glycogen storage disease of heart	Uncertain significance (Sep 2, 2021)	criteria provided, multiple submitters, no conflicts
Select item 9238688.	NM_016203.4(PRKAG2):c.727C>G (p.Leu243Val) GRCh37: Chr7:151329182 GRCh38: Chr7:151632096	PRKAG2	L199V, L243V, L2V, L119V	Lethal congenital glycogen storage disease of heart, Hypertrophic cardiomyopathy 6, Wolff-Parkinson-White pattern, Cardiomyopathy, Lethal congenital glycogen storage disease of heart	Uncertain significance (Aug 30, 2021)	criteria provided, multiple submitters, no conflicts
Select item 9190049.	NM_016203.4(PRKAG2):c.1238C>G (p.Ser413Cys) GRCh37: Chr7:151262967 GRCh38: Chr7:151565881	PRKAG2	S172C, S369C, S288C, S289C, S413C	Cardiovascular phenotype, Wolff-Parkinson-White pattern, Hypertrophic cardiomyopathy 6, Lethal congenital glycogen storage disease of heart, Cardiomyopathy, Lethal congenital glycogen storage disease of heart	Uncertain significance (Sep 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 91220610.	NM_016203.4(PRKAG2):c.90G>T (p.Arg30Ser) GRCh37: Chr7:151573616 GRCh38: Chr7:151876531	PRKAG2	R30S	Cardiomyopathy, Wolff-Parkinson-White pattern, Hypertrophic cardiomyopathy 6	Uncertain significance (Feb 17, 2021)	criteria provided, multiple submitters, no conflicts
Select item 91214111.	NM_016203.4(PRKAG2):c.341C>T (p.Pro114Leu) GRCh37: Chr7:151478363 GRCh38: Chr7:151781277	PRKAG2	P114L, P70L	Wolff-Parkinson-White pattern, Hypertrophic cardiomyopathy 6, Lethal congenital glycogen storage disease of heart, Cardiovascular phenotype, not provided, Cardiomyopathy, Lethal congenital glycogen storage disease of heart, Wolff-Parkinson-White pattern, Hypertrophic cardiomyopathy 6	Conflicting interpretations of pathogenicity (Oct 17, 2022)	criteria provided, conflicting interpretations
Select item 91207012.	NM_016203.4(PRKAG2):c.1324G>A (p.Asp442Asn) GRCh37: Chr7:151262881 GRCh38: Chr7:151565795	PRKAG2	D201N, D317N, D318N, D442N, D398N	Hypertrophic cardiomyopathy 6, Lethal congenital glycogen storage disease of heart, Wolff-Parkinson-White pattern	Uncertain significance (Aug 31, 2021)	criteria provided, multiple submitters, no conflicts
Select item 91201213.	NM_016203.4(PRKAG2):c.*256T>G GRCh37: Chr7:151254031 GRCh38: Chr7:151556945	PRKAG2		Wolff-Parkinson-White pattern, Hypertrophic cardiomyopathy 6	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91196814.	NM_016203.4(PRKAG2):c.*953T>A GRCh37: Chr7:151253334 GRCh38: Chr7:151556248	PRKAG2		Hypertrophic cardiomyopathy 6, Wolff-Parkinson-White pattern	Uncertain significance (Feb 4, 2019)	criteria provided, single submitter
Select item 91097515.	NM_016203.4(PRKAG2):c.119T>A (p.Leu40Gln) GRCh37: Chr7:151483623 GRCh38: Chr7:151786537	PRKAG2	L40Q	Cardiomyopathy, Hypertrophic cardiomyopathy 6, Lethal congenital glycogen storage disease of heart, Wolff-Parkinson-White pattern	Uncertain significance (Mar 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 91080416.	NM_016203.4(PRKAG2):c.*398C>T GRCh37: Chr7:151253889 GRCh38: Chr7:151556803	PRKAG2		Hypertrophic cardiomyopathy 6, Wolff-Parkinson-White pattern	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91080317.	NM_016203.4(PRKAG2):c.*399G>A GRCh37: Chr7:151253888 GRCh38: Chr7:151556802	PRKAG2		not provided, Hypertrophic cardiomyopathy 6, Wolff-Parkinson-White pattern	Benign/Likely benign (Oct 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 91080218.	NM_016203.4(PRKAG2):c.*419C>T GRCh37: Chr7:151253868 GRCh38: Chr7:151556782	PRKAG2		Hypertrophic cardiomyopathy 6, Wolff-Parkinson-White pattern	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 91080119.	NM_016203.4(PRKAG2):c.*450T>C GRCh37: Chr7:151253837 GRCh38: Chr7:151556751	PRKAG2		Hypertrophic cardiomyopathy 6, Wolff-Parkinson-White pattern	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91074720.	NM_016203.4(PRKAG2):c.*1021T>G GRCh37: Chr7:151253266 GRCh38: Chr7:151556180	PRKAG2		Hypertrophic cardiomyopathy 6, Wolff-Parkinson-White pattern	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 91074621.	NM_016203.4(PRKAG2):c.*1030T>G GRCh37: Chr7:151253257 GRCh38: Chr7:151556171	PRKAG2		Wolff-Parkinson-White pattern, Hypertrophic cardiomyopathy 6, not provided	Conflicting interpretations of pathogenicity (Mar 1, 2023)	criteria provided, conflicting interpretations
Select item 91074522.	NM_016203.4(PRKAG2):c.*1043G>A GRCh37: Chr7:151253244 GRCh38: Chr7:151556158	PRKAG2		Hypertrophic cardiomyopathy 6, Wolff-Parkinson-White pattern	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91014323.	NM_016203.4(PRKAG2):c.-481G>A GRCh37: Chr7:151574186 GRCh38: Chr7:151877101	PRKAG2, PRKAG2-AS1		Wolff-Parkinson-White pattern, Hypertrophic cardiomyopathy 6	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 90995524.	NM_016203.4(PRKAG2):c.*56G>A GRCh37: Chr7:151254231 GRCh38: Chr7:151557145	PRKAG2		not provided, Wolff-Parkinson-White pattern, Hypertrophic cardiomyopathy 6	Benign/Likely benign (Jan 12, 2018)	criteria provided, multiple submitters, no conflicts
Select item 90989825.	NM_016203.4(PRKAG2):c.*471T>C GRCh37: Chr7:151253816 GRCh38: Chr7:151556730	PRKAG2		Wolff-Parkinson-White pattern, Hypertrophic cardiomyopathy 6	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90909826.	NM_016203.4(PRKAG2):c.*156A>G GRCh37: Chr7:151254131 GRCh38: Chr7:151557045	PRKAG2		Hypertrophic cardiomyopathy 6, Wolff-Parkinson-White pattern	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90903827.	NM_016203.4(PRKAG2):c.*771C>T GRCh37: Chr7:151253516 GRCh38: Chr7:151556430	PRKAG2		Wolff-Parkinson-White pattern, Hypertrophic cardiomyopathy 6	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90812828.	NM_016203.4(PRKAG2):c.278T>C (p.Val93Ala) GRCh37: Chr7:151478426 GRCh38: Chr7:151781340	PRKAG2	V93A, V49A	Hypertrophic cardiomyopathy 6, Wolff-Parkinson-White pattern	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 69615429.	NM_016203.4(PRKAG2):c.147C>T (p.Asp49=) GRCh37: Chr7:151483595 GRCh38: Chr7:151786509	PRKAG2		Lethal congenital glycogen storage disease of heart, Cardiovascular phenotype, Hypertrophic cardiomyopathy 6, Lethal congenital glycogen storage disease of heart, Wolff-Parkinson-White pattern, Cardiomyopathy, not provided	Likely benign (Oct 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 69573430.	NM_016203.4(PRKAG2):c.297C>T (p.Pro99=) GRCh37: Chr7:151478407 GRCh38: Chr7:151781321	PRKAG2		Cardiovascular phenotype, Cardiomyopathy, Hypertrophic cardiomyopathy 6, Wolff-Parkinson-White pattern, Lethal congenital glycogen storage disease of heart, Lethal congenital glycogen storage disease of heart	Likely benign (Oct 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 63461131.	NM_016203.4(PRKAG2):c.274C>A (p.Pro92Thr) GRCh37: Chr7:151478430 GRCh38: Chr7:151781344	PRKAG2	P92T, P48T	Cardiomyopathy, Hypertrophic cardiomyopathy 6	Uncertain significance (Mar 7, 2019)	criteria provided, multiple submitters, no conflicts
Select item 62674932.	NM_016203.4(PRKAG2):c.997T>G (p.Ser333Ala) GRCh37: Chr7:151271985 GRCh38: Chr7:151574899	PRKAG2	S333A, S289A, S208A, S92A, S209A	Lethal congenital glycogen storage disease of heart, Hypertrophic cardiomyopathy 6, Wolff-Parkinson-White pattern, Inborn genetic diseases, Cardiomyopathy, Lethal congenital glycogen storage disease of heart, not provided	Uncertain significance (Feb 22, 2023)	criteria provided, multiple submitters, no conflicts
Select item 57259233.	NM_016203.4(PRKAG2):c.581C>T (p.Ser194Leu) GRCh37: Chr7:151372609 GRCh38: Chr7:151675523	PRKAG2	S194L, S70L, S150L	Cardiomyopathy, Cardiovascular phenotype, Lethal congenital glycogen storage disease of heart, Hypertrophic cardiomyopathy 6, Wolff-Parkinson-White pattern, Lethal congenital glycogen storage disease of heart	Uncertain significance (Aug 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 52048934.	NM_016203.4(PRKAG2):c.31A>G (p.Lys11Glu) GRCh37: Chr7:151573675 GRCh38: Chr7:151876590	PRKAG2	K11E	Primary familial hypertrophic cardiomyopathy, Wolff-Parkinson-White pattern, Lethal congenital glycogen storage disease of heart, Hypertrophic cardiomyopathy 6, Cardiomyopathy, Lethal congenital glycogen storage disease of heart	Uncertain significance (May 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 52027835.	NM_016203.4(PRKAG2):c.432C>T (p.Pro144=) GRCh37: Chr7:151478272 GRCh38: Chr7:151781186	PRKAG2		Cardiomyopathy, Wolff-Parkinson-White pattern, Hypertrophic cardiomyopathy 6, Lethal congenital glycogen storage disease of heart, Cardiovascular phenotype, not provided	Conflicting interpretations of pathogenicity (Aug 24, 2022)	criteria provided, conflicting interpretations
Select item 46534436.	NM_016203.4(PRKAG2):c.947-7G>A GRCh37: Chr7:151272042 GRCh38: Chr7:151574956	PRKAG2		Cardiomyopathy, Lethal congenital glycogen storage disease of heart, Wolff-Parkinson-White pattern, Hypertrophic cardiomyopathy 6	Conflicting interpretations of pathogenicity (Jul 25, 2022)	criteria provided, conflicting interpretations
Select item 46534337.	NM_016203.4(PRKAG2):c.88A>C (p.Arg30=) GRCh37: Chr7:151573618 GRCh38: Chr7:151876533	PRKAG2		Cardiovascular phenotype, Hypertrophic cardiomyopathy 6, Lethal congenital glycogen storage disease of heart, Cardiomyopathy, Wolff-Parkinson-White pattern	Conflicting interpretations of pathogenicity (May 11, 2022)	criteria provided, conflicting interpretations
Select item 46533738.	NM_016203.4(PRKAG2):c.1114G>A (p.Asp372Asn) GRCh37: Chr7:151265921 GRCh38: Chr7:151568835	PRKAG2	D372N, D247N, D328N, D131N, D248N	Cardiomyopathy, Cardiovascular phenotype, not provided, Lethal congenital glycogen storage disease of heart, Wolff-Parkinson-White pattern, Hypertrophic cardiomyopathy 6	Uncertain significance (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 45194439.	NM_016203.4(PRKAG2):c.1372T>G (p.Ser458Ala) GRCh37: Chr7:151262833 GRCh38: Chr7:151565747	PRKAG2	S458A, S217A, S334A, S414A, S333A	not provided, Lethal congenital glycogen storage disease of heart, Hypertrophic cardiomyopathy 6, Wolff-Parkinson-White pattern	Uncertain significance (Mar 30, 2021)	criteria provided, multiple submitters, no conflicts
Select item 43886040.	NM_016203.4(PRKAG2):c.1454A>C (p.Lys485Thr) GRCh37: Chr7:151261294 GRCh38: Chr7:151564208	PRKAG2	K485T, K441T, K244T, K360T, K361T	Hypertrophic cardiomyopathy 6	Uncertain significance (May 16, 2017)	criteria provided, single submitter
Select item 41072041.	NM_016203.4(PRKAG2):c.704T>G (p.Leu235Arg) GRCh37: Chr7:151329205 GRCh38: Chr7:151632119	PRKAG2	L235R, L111R, L191R	Lethal congenital glycogen storage disease of heart, Cardiomyopathy, not provided, Wolff-Parkinson-White pattern, Hypertrophic cardiomyopathy 6, Lethal congenital glycogen storage disease of heart, Cardiovascular phenotype	Conflicting interpretations of pathogenicity (Dec 12, 2022)	criteria provided, conflicting interpretations
Select item 37842842.	NM_016203.4(PRKAG2):c.750C>T (p.Asp250=) GRCh37: Chr7:151329159 GRCh38: Chr7:151632073	PRKAG2		not specified, Cardiovascular phenotype, Cardiomyopathy, Wolff-Parkinson-White pattern, Hypertrophic cardiomyopathy 6, Lethal congenital glycogen storage disease of heart	Conflicting interpretations of pathogenicity (Oct 5, 2022)	criteria provided, conflicting interpretations
Select item 35936243.	NM_016203.4(PRKAG2):c.-397G>C GRCh37: Chr7:151574102 GRCh38: Chr7:151877017	PRKAG2		Wolff-Parkinson-White pattern, Wolff-Parkinson-White pattern, Hypertrophic cardiomyopathy 6, Lethal congenital glycogen storage disease of heart, Hypertrophic cardiomyopathy 6	Uncertain significance (Oct 11, 2021)	criteria provided, multiple submitters, no conflicts
Select item 35935944.	NM_016203.4(PRKAG2):c.-287C>G GRCh37: Chr7:151573992 GRCh38: Chr7:151876907	PRKAG2		Wolff-Parkinson-White pattern, not provided, Hypertrophic cardiomyopathy 6	Likely benign (Jun 26, 2018)	criteria provided, multiple submitters, no conflicts
Select item 35935745.	NM_016203.4(PRKAG2):c.-262C>T GRCh37: Chr7:151573967 GRCh38: Chr7:151876882	PRKAG2		Wolff-Parkinson-White pattern, Hypertrophic cardiomyopathy 6	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 35935646.	NM_016203.4(PRKAG2):c.-252C>T GRCh37: Chr7:151573957 GRCh38: Chr7:151876872	PRKAG2		Wolff-Parkinson-White pattern, Hypertrophic cardiomyopathy 6	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35935547.	NM_016203.4(PRKAG2):c.-249G>C GRCh37: Chr7:151573954 GRCh38: Chr7:151876869	PRKAG2		Wolff-Parkinson-White pattern, Hypertrophic cardiomyopathy 6	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 35935448.	NM_016203.4(PRKAG2):c.-90G>T GRCh37: Chr7:151573795 GRCh38: Chr7:151876710	PRKAG2		Wolff-Parkinson-White pattern, not provided, Hypertrophic cardiomyopathy 6	Benign/Likely benign (Jan 13, 2018)	criteria provided, multiple submitters, no conflicts
Select item 35935249.	NM_016203.4(PRKAG2):c.-16A>G GRCh37: Chr7:151573721 GRCh38: Chr7:151876636	PRKAG2		Wolff-Parkinson-White pattern, not provided, Hypertrophic cardiomyopathy 6	Conflicting interpretations of pathogenicity (May 24, 2018)	criteria provided, conflicting interpretations
Select item 35935150.	NM_016203.4(PRKAG2):c.138G>A (p.Pro46=) GRCh37: Chr7:151483604 GRCh38: Chr7:151786518	PRKAG2		Cardiomyopathy, not provided, Cardiovascular phenotype, not specified, Lethal congenital glycogen storage disease of heart, Wolff-Parkinson-White pattern, Hypertrophic cardiomyopathy 6	Conflicting interpretations of pathogenicity (Jun 14, 2022)	criteria provided, conflicting interpretations
Select item 35934951.	NM_016203.4(PRKAG2):c.224G>C (p.Gly75Ala) GRCh37: Chr7:151478480 GRCh38: Chr7:151781394	PRKAG2	G75A, G31A	Wolff-Parkinson-White pattern, Cardiovascular phenotype, Cardiomyopathy, Lethal congenital glycogen storage disease of heart, Hypertrophic cardiomyopathy 6	Conflicting interpretations of pathogenicity (Oct 6, 2022)	criteria provided, conflicting interpretations
Select item 35934852.	NM_016203.4(PRKAG2):c.248C>T (p.Pro83Leu) GRCh37: Chr7:151478456 GRCh38: Chr7:151781370	PRKAG2	P83L, P39L	Wolff-Parkinson-White pattern, Hypertrophic cardiomyopathy 6, not provided, Cardiovascular phenotype, Cardiomyopathy, Lethal congenital glycogen storage disease of heart	Conflicting interpretations of pathogenicity (Aug 18, 2022)	criteria provided, conflicting interpretations
Select item 35934753.	NM_016203.4(PRKAG2):c.395A>G (p.Lys132Arg) GRCh37: Chr7:151478309 GRCh38: Chr7:151781223	PRKAG2	K132R, K88R	Cardiomyopathy, Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome, Wolff-Parkinson-White pattern, Lethal congenital glycogen storage disease of heart, Hypertrophic cardiomyopathy 6, Cardiovascular phenotype, Lethal congenital glycogen storage disease of heart, Wolff-Parkinson-White pattern	Uncertain significance (Aug 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 35934654.	NM_016203.4(PRKAG2):c.429G>A (p.Ser143=) GRCh37: Chr7:151478275 GRCh38: Chr7:151781189	PRKAG2		Wolff-Parkinson-White pattern, not provided, Cardiovascular phenotype, Cardiomyopathy, Lethal congenital glycogen storage disease of heart, Hypertrophic cardiomyopathy 6	Conflicting interpretations of pathogenicity (Sep 22, 2022)	criteria provided, conflicting interpretations
Select item 35934555.	NM_016203.4(PRKAG2):c.433G>A (p.Gly145Arg) GRCh37: Chr7:151478271 GRCh38: Chr7:151781185	PRKAG2	G145R, G101R	Cardiovascular phenotype, Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 6, Lethal congenital glycogen storage disease of heart, Wolff-Parkinson-White pattern	Uncertain significance (Nov 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 35934356.	NM_016203.4(PRKAG2):c.*55C>T GRCh37: Chr7:151254232 GRCh38: Chr7:151557146	PRKAG2		not provided, Hypertrophic cardiomyopathy 6, Wolff-Parkinson-White pattern	Conflicting interpretations of pathogenicity (Jul 1, 2022)	criteria provided, conflicting interpretations
Select item 35934257.	NM_016203.4(PRKAG2):c.*112A>G GRCh37: Chr7:151254175 GRCh38: Chr7:151557089	PRKAG2		Hypertrophic cardiomyopathy 6, Wolff-Parkinson-White pattern, not provided	Benign (Jan 13, 2018)	criteria provided, multiple submitters, no conflicts
Select item 35934158.	NM_016203.4(PRKAG2):c.*127C>G GRCh37: Chr7:151254160 GRCh38: Chr7:151557074	PRKAG2		not provided, Hypertrophic cardiomyopathy 6, Wolff-Parkinson-White pattern	Conflicting interpretations of pathogenicity (Feb 1, 2023)	criteria provided, conflicting interpretations
Select item 35934059.	NM_016203.4(PRKAG2):c.*135T>C GRCh37: Chr7:151254152 GRCh38: Chr7:151557066	PRKAG2		not provided, Wolff-Parkinson-White pattern, Hypertrophic cardiomyopathy 6	Conflicting interpretations of pathogenicity (Feb 1, 2023)	criteria provided, conflicting interpretations
Select item 35933860.	NM_016203.4(PRKAG2):c.*365G>A GRCh37: Chr7:151253922 GRCh38: Chr7:151556836	PRKAG2		Wolff-Parkinson-White pattern, not provided, Hypertrophic cardiomyopathy 6	Conflicting interpretations of pathogenicity (Jan 12, 2018)	criteria provided, conflicting interpretations
Select item 35933761.	NM_016203.4(PRKAG2):c.*384C>T GRCh37: Chr7:151253903 GRCh38: Chr7:151556817	PRKAG2		Wolff-Parkinson-White pattern, not provided, Hypertrophic cardiomyopathy 6	Benign/Likely benign (Jan 12, 2018)	criteria provided, multiple submitters, no conflicts
Select item 35933662.	NM_016203.4(PRKAG2):c.*452C>T GRCh37: Chr7:151253835 GRCh38: Chr7:151556749	PRKAG2		Wolff-Parkinson-White pattern, Hypertrophic cardiomyopathy 6	Benign/Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 35933563.	NM_016203.4(PRKAG2):c.*522G>T GRCh37: Chr7:151253765 GRCh38: Chr7:151556679	PRKAG2		Wolff-Parkinson-White pattern, Hypertrophic cardiomyopathy 6	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 35933464.	NM_016203.4(PRKAG2):c.*572G>A GRCh37: Chr7:151253715 GRCh38: Chr7:151556629	PRKAG2		Wolff-Parkinson-White pattern, Hypertrophic cardiomyopathy 6	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 35933365.	NM_016203.4(PRKAG2):c.*612G>A GRCh37: Chr7:151253675 GRCh38: Chr7:151556589	PRKAG2		Wolff-Parkinson-White pattern, Hypertrophic cardiomyopathy 6	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 35933266.	NM_016203.4(PRKAG2):c.*614A>T GRCh37: Chr7:151253673 GRCh38: Chr7:151556587	PRKAG2		Wolff-Parkinson-White pattern, Hypertrophic cardiomyopathy 6	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 35933167.	NM_016203.4(PRKAG2):c.*835T>C GRCh37: Chr7:151253452 GRCh38: Chr7:151556366	PRKAG2		Wolff-Parkinson-White pattern, Hypertrophic cardiomyopathy 6	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35933068.	NM_016203.4(PRKAG2):c.*887G>A GRCh37: Chr7:151253400 GRCh38: Chr7:151556314	PRKAG2		Wolff-Parkinson-White pattern, Hypertrophic cardiomyopathy 6	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35932869.	NM_016203.4(PRKAG2):c.*964G>A GRCh37: Chr7:151253323 GRCh38: Chr7:151556237	PRKAG2		Wolff-Parkinson-White pattern, Hypertrophic cardiomyopathy 6	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35932770.	NM_016203.4(PRKAG2):c.*1012T>G GRCh37: Chr7:151253275 GRCh38: Chr7:151556189	PRKAG2		Wolff-Parkinson-White pattern, Hypertrophic cardiomyopathy 6	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35932071.	NM_016203.4(PRKAG2):c.*1061G>A GRCh37: Chr7:151253226 GRCh38: Chr7:151556140	PRKAG2		Wolff-Parkinson-White pattern, Hypertrophic cardiomyopathy 6	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 26069772.	NM_016203.4(PRKAG2):c.864+35_864+36insA GRCh37: Chr7:151292395-151292396 GRCh38: Chr7:151595309-151595310	PRKAG2		Wolff-Parkinson-White pattern, Hypertrophic cardiomyopathy 6, Lethal congenital glycogen storage disease of heart, not specified, not provided	Benign/Likely benign (Oct 25, 2021)	criteria provided, multiple submitters, no conflicts
Select item 26069273.	NM_016203.4(PRKAG2):c.-26C>T GRCh37: Chr7:151573731 GRCh38: Chr7:151876646	PRKAG2		not provided, not specified, Lethal congenital glycogen storage disease of heart, Wolff-Parkinson-White pattern, Hypertrophic cardiomyopathy 6	Benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 24109674.	NM_016203.4(PRKAG2):c.593C>T (p.Pro198Leu) GRCh37: Chr7:151372597 GRCh38: Chr7:151675511	PRKAG2	P198L, P154L, P74L	Wolff-Parkinson-White pattern, Hypertrophic cardiomyopathy 6, Lethal congenital glycogen storage disease of heart, not provided, Cardiomyopathy, Lethal congenital glycogen storage disease of heart, Cardiovascular phenotype	Uncertain significance (Aug 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 22788075.	NM_016203.4(PRKAG2):c.981A>G (p.Leu327=) GRCh37: Chr7:151272001 GRCh38: Chr7:151574915	PRKAG2		Cardiovascular phenotype, not specified, Cardiomyopathy, Wolff-Parkinson-White pattern, Hypertrophic cardiomyopathy 6, Lethal congenital glycogen storage disease of heart	Conflicting interpretations of pathogenicity (Nov 2, 2022)	criteria provided, conflicting interpretations
Select item 22277176.	NM_016203.4(PRKAG2):c.1475T>A (p.Ile492Asn) GRCh37: Chr7:151261273 GRCh38: Chr7:151564187	PRKAG2	I492N, I448N, I367N, I368N, I251N	Cardiovascular phenotype, Wolff-Parkinson-White pattern, Lethal congenital glycogen storage disease of heart, Hypertrophic cardiomyopathy 6, Cardiomyopathy, Primary familial hypertrophic cardiomyopathy, Lethal congenital glycogen storage disease of heart	Uncertain significance (Jan 31, 2023)	criteria provided, multiple submitters, no conflicts
Select item 22277077.	NM_016203.4(PRKAG2):c.1310C>G (p.Ala437Gly) GRCh37: Chr7:151262895 GRCh38: Chr7:151565809	PRKAG2	A437G, A312G, A393G, A196G, A313G	Lethal congenital glycogen storage disease of heart, Wolff-Parkinson-White pattern, Hypertrophic cardiomyopathy 6, Primary familial hypertrophic cardiomyopathy	Uncertain significance (Aug 26, 2021)	criteria provided, multiple submitters, no conflicts
Select item 18148778.	NM_016203.4(PRKAG2):c.557G>A (p.Arg186Gln) GRCh37: Chr7:151372633 GRCh38: Chr7:151675547	PRKAG2	R186Q, R142Q, R62Q	Cardiovascular phenotype, Hypertrophic cardiomyopathy 6, Wolff-Parkinson-White pattern, Lethal congenital glycogen storage disease of heart, not provided, Cardiomyopathy, Lethal congenital glycogen storage disease of heart	Uncertain significance (Oct 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 18148579.	NM_016203.4(PRKAG2):c.431C>T (p.Pro144Leu) GRCh37: Chr7:151478273 GRCh38: Chr7:151781187	PRKAG2	P144L, P100L	Cardiovascular phenotype, not specified, not provided, Cardiomyopathy, Wolff-Parkinson-White pattern, Hypertrophic cardiomyopathy 6, Lethal congenital glycogen storage disease of heart, Congestive heart failure	Uncertain significance (Oct 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 18147980.	NM_016203.4(PRKAG2):c.1367G>A (p.Arg456Gln) GRCh37: Chr7:151262838 GRCh38: Chr7:151565752	PRKAG2	R456Q, R215Q, R412Q, R331Q, R332Q	Hypertrophic cardiomyopathy 6, Lethal congenital glycogen storage disease of heart, not provided, Inborn genetic diseases	Uncertain significance (Feb 23, 2023)	criteria provided, multiple submitters, no conflicts
Select item 18147381.	NM_016203.4(PRKAG2):c.866T>C (p.Val289Ala) GRCh37: Chr7:151273537 GRCh38: Chr7:151576451	PRKAG2	V289A, V165A, V164A, V48A, V245A	not provided, Cardiomyopathy, Wolff-Parkinson-White pattern, Hypertrophic cardiomyopathy 6, Lethal congenital glycogen storage disease of heart	Conflicting interpretations of pathogenicity (Oct 12, 2022)	criteria provided, conflicting interpretations
Select item 18146982.	NM_016203.4(PRKAG2):c.556C>T (p.Arg186Trp) GRCh37: Chr7:151372634 GRCh38: Chr7:151675548	PRKAG2	R186W, R142W, R62W	not provided, Cardiomyopathy, Lethal congenital glycogen storage disease of heart, Hypertrophic cardiomyopathy 6, Lethal congenital glycogen storage disease of heart, Wolff-Parkinson-White pattern, Cardiovascular phenotype	Conflicting interpretations of pathogenicity (Sep 30, 2022)	criteria provided, conflicting interpretations
Select item 17798783.	NM_016203.4(PRKAG2):c.*2C>T GRCh37: Chr7:151254285 GRCh38: Chr7:151557199	PRKAG2		not specified, Cardiomyopathy, Hypertrophic cardiomyopathy 6, Wolff-Parkinson-White pattern	Conflicting interpretations of pathogenicity (Apr 15, 2021)	criteria provided, conflicting interpretations
Select item 17782084.	NM_016203.4(PRKAG2):c.1508A>G (p.Gln503Arg) GRCh37: Chr7:151261240 GRCh38: Chr7:151564154	PRKAG2	Q503R, Q378R, Q459R, Q262R, Q379R	Wolff-Parkinson-White pattern, Lethal congenital glycogen storage disease of heart, Hypertrophic cardiomyopathy 6, Cardiomyopathy, Lethal congenital glycogen storage disease of heart	Uncertain significance (Sep 2, 2021)	criteria provided, multiple submitters, no conflicts
Select item 4573685.	NM_016203.4(PRKAG2):c.865G>A (p.Val289Ile) GRCh37: Chr7:151273538 GRCh38: Chr7:151576452	PRKAG2	V289I, V164I, V245I, V165I, V48I	Lethal congenital glycogen storage disease of heart, Hypertrophic cardiomyopathy 6, Wolff-Parkinson-White pattern, not specified, not provided, Cardiomyopathy, Lethal congenital glycogen storage disease of heart	Uncertain significance (Nov 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 4573386.	NM_016203.4(PRKAG2):c.698C>G (p.Ala233Gly) GRCh37: Chr7:151329211 GRCh38: Chr7:151632125	PRKAG2	A233G, A189G, A109G	Cardiovascular phenotype, not specified, not provided, Cardiomyopathy, Hypertrophic cardiomyopathy 1, Hypertrophic cardiomyopathy 6, Wolff-Parkinson-White pattern, Lethal congenital glycogen storage disease of heart, See cases	Conflicting interpretations of pathogenicity (Mar 3, 2023)	criteria provided, conflicting interpretations
Select item 4572987.	NM_016203.4(PRKAG2):c.620C>G (p.Ser207Cys) GRCh37: Chr7:151372570 GRCh38: Chr7:151675484	PRKAG2	S207C, S163C, S83C	Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome, Lethal congenital glycogen storage disease of heart, Hypertrophic cardiomyopathy 6, Wolff-Parkinson-White pattern, not specified, Lethal congenital glycogen storage disease of heart, Wolff-Parkinson-White pattern	Uncertain significance (Dec 2, 2021)	criteria provided, multiple submitters, no conflicts
Select item 4572788.	NM_016203.4(PRKAG2):c.59G>T (p.Ser20Ile) GRCh37: Chr7:151573647 GRCh38: Chr7:151876562	PRKAG2	S20I	Cardiovascular phenotype, not specified, not provided, Cardiomyopathy, Hypertrophic cardiomyopathy 6, Lethal congenital glycogen storage disease of heart, Wolff-Parkinson-White pattern	Benign/Likely benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 4572389.	NM_016203.4(PRKAG2):c.532G>A (p.Glu178Lys) GRCh37: Chr7:151372658 GRCh38: Chr7:151675572	PRKAG2	E178K, E134K, E54K	not specified, Cardiomyopathy, Wolff-Parkinson-White pattern, Lethal congenital glycogen storage disease of heart, Hypertrophic cardiomyopathy 6	Uncertain significance (Aug 30, 2021)	criteria provided, multiple submitters, no conflicts
Select item 4572190.	NM_016203.4(PRKAG2):c.471C>T (p.Ser157=) GRCh37: Chr7:151372719 GRCh38: Chr7:151675633	PRKAG2		Cardiovascular phenotype, not specified, not provided, Cardiomyopathy, Hypertrophic cardiomyopathy 6, Wolff-Parkinson-White pattern, Lethal congenital glycogen storage disease of heart	Conflicting interpretations of pathogenicity (Jan 29, 2023)	criteria provided, conflicting interpretations
Select item 4571791.	NM_016203.4(PRKAG2):c.425C>T (p.Thr142Ile) GRCh37: Chr7:151478279 GRCh38: Chr7:151781193	PRKAG2	T142I, T98I	Wolff-Parkinson-White pattern, Hypertrophic cardiomyopathy 6, Lethal congenital glycogen storage disease of heart, not specified, not provided, Cardiomyopathy, Wolff-Parkinson-White pattern, Lethal congenital glycogen storage disease of heart, Hypertrophic cardiomyopathy 6	Conflicting interpretations of pathogenicity (Nov 1, 2022)	criteria provided, conflicting interpretations
Select item 4571592.	NM_016203.4(PRKAG2):c.325T>G (p.Ser109Ala) GRCh37: Chr7:151478379 GRCh38: Chr7:151781293	PRKAG2	S109A, S65A	Lethal congenital glycogen storage disease of heart, Wolff-Parkinson-White pattern, Hypertrophic cardiomyopathy 6, not specified, Cardiomyopathy, not provided, Lethal congenital glycogen storage disease of heart	Conflicting interpretations of pathogenicity (Oct 27, 2022)	criteria provided, conflicting interpretations
Select item 4571393.	NM_016203.4(PRKAG2):c.312C>T (p.Thr104=) GRCh37: Chr7:151478392 GRCh38: Chr7:151781306	PRKAG2		Cardiovascular phenotype, not specified, not provided, Cardiomyopathy, Wolff-Parkinson-White pattern, Lethal congenital glycogen storage disease of heart, Hypertrophic cardiomyopathy 6	Conflicting interpretations of pathogenicity (Oct 13, 2022)	criteria provided, conflicting interpretations
Select item 4571194.	NM_016203.4(PRKAG2):c.247C>T (p.Pro83Ser) GRCh37: Chr7:151478457 GRCh38: Chr7:151781371	PRKAG2	P83S, P39S	not specified, Cardiovascular phenotype, Cardiomyopathy, Wolff-Parkinson-White pattern, Lethal congenital glycogen storage disease of heart, Hypertrophic cardiomyopathy 6, Heart failure	Conflicting interpretations of pathogenicity (Nov 3, 2022)	criteria provided, conflicting interpretations
Select item 4571095.	NM_016203.4(PRKAG2):c.240C>A (p.Gly80=) GRCh37: Chr7:151478464 GRCh38: Chr7:151781378	PRKAG2		Cardiovascular phenotype, not specified, Cardiomyopathy, Lethal congenital glycogen storage disease of heart, Hypertrophic cardiomyopathy 6, Wolff-Parkinson-White pattern	Conflicting interpretations of pathogenicity (Oct 24, 2022)	criteria provided, conflicting interpretations
Select item 4570996.	NM_016203.4(PRKAG2):c.207G>A (p.Pro69=) GRCh37: Chr7:151478497 GRCh38: Chr7:151781411	PRKAG2		Cardiovascular phenotype, not provided, not specified, Cardiomyopathy, Wolff-Parkinson-White pattern, Hypertrophic cardiomyopathy 6, Lethal congenital glycogen storage disease of heart	Benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 4570697.	NM_016203.4(PRKAG2):c.1704G>A (p.Thr568=) GRCh37: Chr7:151254293 GRCh38: Chr7:151557207	PRKAG2		Cardiovascular phenotype, not specified, Cardiomyopathy, Wolff-Parkinson-White pattern, Lethal congenital glycogen storage disease of heart, Hypertrophic cardiomyopathy 6	Benign/Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 4570298.	NM_016203.4(PRKAG2):c.1623T>C (p.Ile541=) GRCh37: Chr7:151257665 GRCh38: Chr7:151560579	PRKAG2		Cardiovascular phenotype, not provided, not specified, Cardiomyopathy, Lethal congenital glycogen storage disease of heart, Hypertrophic cardiomyopathy 6, Wolff-Parkinson-White pattern	Benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 4569999.	NM_016203.4(PRKAG2):c.1584+7C>T GRCh37: Chr7:151261157 GRCh38: Chr7:151564071	PRKAG2		not specified, not provided, Cardiomyopathy, Hypertrophic cardiomyopathy 6, Lethal congenital glycogen storage disease of heart, Wolff-Parkinson-White pattern	Conflicting interpretations of pathogenicity (Mar 1, 2023)	criteria provided, conflicting interpretations
Select item 45697100.	NM_016203.4(PRKAG2):c.1390G>A (p.Asp464Asn) GRCh37: Chr7:151262815 GRCh38: Chr7:151565729	PRKAG2	D464N, D340N, D339N, D420N, D223N	Cardiovascular phenotype, not specified, not provided, Cardiomyopathy, Primary familial hypertrophic cardiomyopathy, Wolff-Parkinson-White pattern, Lethal congenital glycogen storage disease of heart, Hypertrophic cardiomyopathy 6, Hypertrophic cardiomyopathy	Uncertain significance (Oct 31, 2022)	criteria provided, multiple submitters, no conflicts

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