ClinVar for MedGen (Select 337919) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24265241.	NM_016203.4(PRKAG2):c.52G>T (p.Gly18Cys) GRCh37: Chr7:151573654 GRCh38: Chr7:151876569	PRKAG2	G18C	Lethal congenital glycogen storage disease of heart	Uncertain significance (Jun 15, 2022)	criteria provided, single submitter
Select item 24262802.	NC_000007.13:g.(?_150642453)_(151573705_?)del GRCh37: Chr7:150642453-151573705	RHEB, ABCF2, ABCB8, NUB1, AGAP3, FASTK, TMUB1, PRKAG2, MIR671, CHPF2, CRYGN, SMARCD3, ATG9B, CDK5, NOS3, ASIC3, GBX1, SLC4A2, ASB10, KCNH2, WDR86		Lethal congenital glycogen storage disease of heart	Uncertain significance (Jun 29, 2022)	criteria provided, single submitter
Select item 24262793.	NC_000007.13:g.(?_151478218)_(151573705_?)dup GRCh37: Chr7:151478218-151573705	PRKAG2		Lethal congenital glycogen storage disease of heart	Uncertain significance (May 29, 2022)	criteria provided, single submitter
Select item 24262784.	NC_000007.13:g.(?_151372486)_(151372743_?)dup GRCh37: Chr7:151372486-151372743	PRKAG2		Lethal congenital glycogen storage disease of heart	Uncertain significance (Mar 21, 2022)	criteria provided, single submitter
Select item 24181415.	NM_016203.4(PRKAG2):c.1698A>C (p.Thr566=) GRCh37: Chr7:151254299 GRCh38: Chr7:151557213	PRKAG2		Lethal congenital glycogen storage disease of heart	Likely benign (Dec 24, 2021)	criteria provided, single submitter
Select item 24156336.	NM_016203.4(PRKAG2):c.698C>T (p.Ala233Val) GRCh37: Chr7:151329211 GRCh38: Chr7:151632125	PRKAG2	A109V, A125V, A127V, A189V, A233V, A9V	Lethal congenital glycogen storage disease of heart	Uncertain significance (Dec 21, 2021)	criteria provided, single submitter
Select item 22018787.	NM_016203.4(PRKAG2):c.1095T>C (p.Ser365=) GRCh37: Chr7:151267268 GRCh38: Chr7:151570182	PRKAG2		Lethal congenital glycogen storage disease of heart	Likely benign (Sep 20, 2022)	criteria provided, single submitter
Select item 21971778.	NM_016203.4(PRKAG2):c.638C>T (p.Thr213Ile) GRCh37: Chr7:151372552 GRCh38: Chr7:151675466	PRKAG2	T107I, T169I, T89I, T213I	Lethal congenital glycogen storage disease of heart	Uncertain significance (Oct 3, 2022)	criteria provided, single submitter
Select item 21951249.	NM_016203.4(PRKAG2):c.575A>G (p.Tyr192Cys) GRCh37: Chr7:151372615 GRCh38: Chr7:151675529	PRKAG2	Y68C, Y86C, Y148C, Y192C	Lethal congenital glycogen storage disease of heart	Likely benign (Feb 4, 2022)	criteria provided, single submitter
Select item 219181810.	NM_016203.4(PRKAG2):c.684+10G>C GRCh37: Chr7:151372496 GRCh38: Chr7:151675410	PRKAG2		Lethal congenital glycogen storage disease of heart	Likely benign (Aug 18, 2022)	criteria provided, single submitter
Select item 218821411.	NM_016203.4(PRKAG2):c.399G>A (p.Glu133=) GRCh37: Chr7:151478305 GRCh38: Chr7:151781219	PRKAG2		Lethal congenital glycogen storage disease of heart	Likely benign (Dec 21, 2021)	criteria provided, single submitter
Select item 218821312.	NM_016203.4(PRKAG2):c.402T>C (p.Ser134=) GRCh37: Chr7:151478302 GRCh38: Chr7:151781216	PRKAG2		Lethal congenital glycogen storage disease of heart	Likely benign (Mar 8, 2022)	criteria provided, single submitter
Select item 218670613.	NM_016203.4(PRKAG2):c.947-19_947-18del GRCh37: Chr7:151272053-151272054 GRCh38: Chr7:151574967-151574968	PRKAG2		Lethal congenital glycogen storage disease of heart	Uncertain significance (Oct 5, 2022)	criteria provided, single submitter
Select item 218285314.	NM_016203.4(PRKAG2):c.685-9C>A GRCh37: Chr7:151329233 GRCh38: Chr7:151632147	PRKAG2		Lethal congenital glycogen storage disease of heart	Likely benign (Oct 14, 2022)	criteria provided, single submitter
Select item 218248115.	NM_016203.4(PRKAG2):c.1005+13A>T GRCh37: Chr7:151271964 GRCh38: Chr7:151574878	PRKAG2		Lethal congenital glycogen storage disease of heart	Likely benign (Mar 17, 2022)	criteria provided, single submitter
Select item 218028716.	NM_016203.4(PRKAG2):c.1400-17A>G GRCh37: Chr7:151262486 GRCh38: Chr7:151565400	PRKAG2		Lethal congenital glycogen storage disease of heart	Likely benign (May 3, 2022)	criteria provided, single submitter
Select item 217704117.	NM_016203.4(PRKAG2):c.1032T>C (p.His344=) GRCh37: Chr7:151269769 GRCh38: Chr7:151572683	PRKAG2		Lethal congenital glycogen storage disease of heart	Likely benign (May 9, 2022)	criteria provided, single submitter
Select item 217225718.	NM_016203.4(PRKAG2):c.896A>G (p.Asn299Ser) GRCh37: Chr7:151273507 GRCh38: Chr7:151576421	PRKAG2	N193S, N255S, N78S, N174S, N202S, N203S, N254S, N58S, N191S, N298S, N299S, N57S, N74S, N175S	Lethal congenital glycogen storage disease of heart	Uncertain significance (Jan 26, 2022)	criteria provided, single submitter
Select item 217136719.	NM_016203.4(PRKAG2):c.235A>G (p.Arg79Gly) GRCh37: Chr7:151478469 GRCh38: Chr7:151781383	PRKAG2	R79G, R35G	Lethal congenital glycogen storage disease of heart	Uncertain significance (Mar 8, 2022)	criteria provided, single submitter
Select item 217090720.	NM_016203.4(PRKAG2):c.685-19TCC[3] GRCh37: Chr7:151329232-151329234 GRCh38: Chr7:151632146-151632148	PRKAG2		Lethal congenital glycogen storage disease of heart	Likely benign (Jun 14, 2022)	criteria provided, single submitter
Select item 216570821.	NM_016203.4(PRKAG2):c.467-19C>G GRCh37: Chr7:151372742 GRCh38: Chr7:151675656	PRKAG2		Lethal congenital glycogen storage disease of heart	Likely benign (Aug 8, 2022)	criteria provided, single submitter
Select item 216481922.	NM_016203.4(PRKAG2):c.898G>A (p.Gly300Ser) GRCh37: Chr7:151273505 GRCh38: Chr7:151576419	PRKAG2	G175S, G194S, G256S, G59S, G203S, G299S, G79S, G192S, G204S, G255S, G176S, G300S, G58S, G75S	Lethal congenital glycogen storage disease of heart	Uncertain significance (Aug 20, 2022)	criteria provided, single submitter
Select item 216152123.	NM_016203.4(PRKAG2):c.115-20G>A GRCh37: Chr7:151483647 GRCh38: Chr7:151786561	PRKAG2		Lethal congenital glycogen storage disease of heart	Likely benign (Jul 28, 2022)	criteria provided, single submitter
Select item 215768224.	NM_016203.4(PRKAG2):c.528C>G (p.Pro176=) GRCh37: Chr7:151372662 GRCh38: Chr7:151675576	PRKAG2		Lethal congenital glycogen storage disease of heart	Likely benign (Aug 4, 2022)	criteria provided, single submitter
Select item 215755125.	NM_016203.4(PRKAG2):c.154C>T (p.Leu52=) GRCh37: Chr7:151483588 GRCh38: Chr7:151786502	PRKAG2		Lethal congenital glycogen storage disease of heart	Likely benign (Jul 14, 2022)	criteria provided, single submitter
Select item 215627226.	NM_016203.4(PRKAG2):c.754+11C>T GRCh37: Chr7:151329144 GRCh38: Chr7:151632058	PRKAG2		Lethal congenital glycogen storage disease of heart	Likely benign (Mar 18, 2022)	criteria provided, single submitter
Select item 215613527.	NM_016203.4(PRKAG2):c.1051+11T>A GRCh37: Chr7:151269739 GRCh38: Chr7:151572653	PRKAG2		Lethal congenital glycogen storage disease of heart	Likely benign (Jul 17, 2022)	criteria provided, single submitter
Select item 215175928.	NM_016203.4(PRKAG2):c.233_234insTCC (p.Ser78_Arg79insPro) GRCh37: Chr7:151478470-151478471 GRCh38: Chr7:151781384-151781385	PRKAG2		Lethal congenital glycogen storage disease of heart	Uncertain significance (Apr 15, 2022)	criteria provided, single submitter
Select item 215160229.	NM_016203.4(PRKAG2):c.585T>C (p.Ser195=) GRCh37: Chr7:151372605 GRCh38: Chr7:151675519	PRKAG2		Lethal congenital glycogen storage disease of heart	Likely benign (Jun 14, 2022)	criteria provided, single submitter
Select item 214893730.	NM_016203.4(PRKAG2):c.1005+20A>G GRCh37: Chr7:151271957 GRCh38: Chr7:151574871	PRKAG2		Lethal congenital glycogen storage disease of heart	Likely benign (Oct 5, 2022)	criteria provided, single submitter
Select item 214695431.	NM_016203.4(PRKAG2):c.8G>A (p.Ser3Asn) GRCh37: Chr7:151573698 GRCh38: Chr7:151876613	PRKAG2	S3N	Lethal congenital glycogen storage disease of heart	Uncertain significance (Mar 1, 2022)	criteria provided, single submitter
Select item 214658632.	NM_016203.4(PRKAG2):c.51C>T (p.Pro17=) GRCh37: Chr7:151573655 GRCh38: Chr7:151876570	PRKAG2		Lethal congenital glycogen storage disease of heart	Likely benign (Jun 30, 2022)	criteria provided, single submitter
Select item 214604333.	NM_016203.4(PRKAG2):c.1234-13A>G GRCh37: Chr7:151262984 GRCh38: Chr7:151565898	PRKAG2		Lethal congenital glycogen storage disease of heart	Likely benign (May 12, 2022)	criteria provided, single submitter
Select item 214541934.	NM_016203.4(PRKAG2):c.466+19T>G GRCh37: Chr7:151478219 GRCh38: Chr7:151781133	PRKAG2	L118W	Lethal congenital glycogen storage disease of heart	Likely benign (Jan 26, 2022)	criteria provided, single submitter
Select item 214183935.	NM_016203.4(PRKAG2):c.928A>G (p.Lys310Glu) GRCh37: Chr7:151273475 GRCh38: Chr7:151576389	PRKAG2	K204E, K310E, K68E, K202E, K266E, K309E, K85E, K89E, K186E, K185E, K213E, K214E, K265E, K69E	Lethal congenital glycogen storage disease of heart	Uncertain significance (Apr 12, 2022)	criteria provided, single submitter
Select item 214049236.	NM_016203.4(PRKAG2):c.1233+14A>G GRCh37: Chr7:151265788 GRCh38: Chr7:151568702	PRKAG2		Lethal congenital glycogen storage disease of heart	Likely benign (Oct 23, 2022)	criteria provided, single submitter
Select item 213663237.	NM_016203.4(PRKAG2):c.1453A>G (p.Lys485Glu) GRCh37: Chr7:151261295 GRCh38: Chr7:151564209	PRKAG2	K264E, K377E, K244E, K360E, K361E, K389E, K485E, K243E, K379E, K440E, K441E, K484E, K260E, K388E	Lethal congenital glycogen storage disease of heart	Pathogenic (May 27, 2022)	criteria provided, single submitter
Select item 213533938.	NM_016203.4(PRKAG2):c.53del (p.Gly18fs) GRCh37: Chr7:151573653 GRCh38: Chr7:151876568	PRKAG2	G18fs	Lethal congenital glycogen storage disease of heart	Uncertain significance (May 8, 2022)	criteria provided, single submitter
Select item 213119239.	NM_016203.4(PRKAG2):c.1128C>T (p.Ser376=) GRCh37: Chr7:151265907 GRCh38: Chr7:151568821	PRKAG2		Lethal congenital glycogen storage disease of heart	Likely benign (May 19, 2022)	criteria provided, single submitter
Select item 212994140.	NM_016203.4(PRKAG2):c.186+3A>G GRCh37: Chr7:151483553 GRCh38: Chr7:151786467	PRKAG2		Lethal congenital glycogen storage disease of heart	Uncertain significance (Apr 24, 2022)	criteria provided, single submitter
Select item 212962141.	NM_016203.4(PRKAG2):c.711C>G (p.Pro237=) GRCh37: Chr7:151329198 GRCh38: Chr7:151632112	PRKAG2		Lethal congenital glycogen storage disease of heart	Likely benign (Apr 23, 2022)	criteria provided, single submitter
Select item 212624442.	NM_016203.4(PRKAG2):c.1639C>G (p.Leu547Val) GRCh37: Chr7:151257649 GRCh38: Chr7:151560563	PRKAG2	L441V, L451V, L306V, L439V, L305V, L322V, L326V, L422V, L546V, L423V, L450V, L502V, L503V, L547V	Lethal congenital glycogen storage disease of heart	Uncertain significance (Nov 1, 2022)	criteria provided, single submitter
Select item 212551943.	NM_016203.4(PRKAG2):c.1A>G (p.Met1Val) GRCh37: Chr7:151573705 GRCh38: Chr7:151876620	PRKAG2	M1V	Lethal congenital glycogen storage disease of heart	Uncertain significance (Apr 12, 2022)	criteria provided, single submitter
Select item 211671844.	NM_016203.4(PRKAG2):c.1619G>A (p.Ser540Asn) GRCh37: Chr7:151257669 GRCh38: Chr7:151560583	PRKAG2	S416N, S444N, S540N, S432N, S496N, S539N, S298N, S299N, S315N, S319N, S415N, S434N, S443N, S495N	Lethal congenital glycogen storage disease of heart	Likely benign (Mar 25, 2022)	criteria provided, single submitter
Select item 211478645.	NM_016203.4(PRKAG2):c.1044A>C (p.Thr348=) GRCh37: Chr7:151269757 GRCh38: Chr7:151572671	PRKAG2		Lethal congenital glycogen storage disease of heart	Likely benign (Mar 20, 2022)	criteria provided, single submitter
Select item 210918946.	NM_016203.4(PRKAG2):c.253C>A (p.Pro85Thr) GRCh37: Chr7:151478451 GRCh38: Chr7:151781365	PRKAG2	P41T, P85T	Lethal congenital glycogen storage disease of heart	Likely benign (Jun 13, 2022)	criteria provided, single submitter
Select item 210895047.	NM_016203.4(PRKAG2):c.1605A>G (p.Val535=) GRCh37: Chr7:151257683 GRCh38: Chr7:151560597	PRKAG2		Lethal congenital glycogen storage disease of heart	Likely benign (Mar 11, 2022)	criteria provided, single submitter
Select item 210767248.	NM_016203.4(PRKAG2):c.685-3C>A GRCh37: Chr7:151329227 GRCh38: Chr7:151632141	PRKAG2		Lethal congenital glycogen storage disease of heart	Uncertain significance (Mar 8, 2022)	criteria provided, single submitter
Select item 210737349.	NM_016203.4(PRKAG2):c.238G>A (p.Gly80Ser) GRCh37: Chr7:151478466 GRCh38: Chr7:151781380	PRKAG2	G80S, G36S	Lethal congenital glycogen storage disease of heart	Uncertain significance (Mar 6, 2022)	criteria provided, single submitter
Select item 209828750.	NM_016203.4(PRKAG2):c.916C>T (p.Leu306=) GRCh37: Chr7:151273487 GRCh38: Chr7:151576401	PRKAG2		Lethal congenital glycogen storage disease of heart	Likely benign (Mar 18, 2022)	criteria provided, single submitter
Select item 209309051.	NM_016203.4(PRKAG2):c.510C>G (p.Thr170=) GRCh37: Chr7:151372680 GRCh38: Chr7:151675594	PRKAG2		Lethal congenital glycogen storage disease of heart	Likely benign (Feb 4, 2022)	criteria provided, single submitter
Select item 208523852.	NM_016203.4(PRKAG2):c.1355T>C (p.Phe452Ser) GRCh37: Chr7:151262850 GRCh38: Chr7:151565764	PRKAG2	F327S, F344S, F346S, F407S, F211S, F408S, F227S, F231S, F328S, F452S, F210S, F355S, F356S, F451S	Lethal congenital glycogen storage disease of heart	Uncertain significance (Jan 24, 2022)	criteria provided, single submitter
Select item 206304453.	NM_016203.4(PRKAG2):c.1233+1G>C GRCh37: Chr7:151265801 GRCh38: Chr7:151568715	PRKAG2		Lethal congenital glycogen storage disease of heart	Uncertain significance (Dec 27, 2021)	criteria provided, single submitter
Select item 206075654.	NM_016203.4(PRKAG2):c.1704G>C (p.Thr568=) GRCh37: Chr7:151254293 GRCh38: Chr7:151557207	PRKAG2		Lethal congenital glycogen storage disease of heart	Likely benign (Dec 25, 2021)	criteria provided, single submitter
Select item 205708655.	NM_016203.4(PRKAG2):c.1068A>G (p.Glu356=) GRCh37: Chr7:151267295 GRCh38: Chr7:151570209	PRKAG2		Lethal congenital glycogen storage disease of heart	Likely benign (Dec 24, 2021)	criteria provided, single submitter
Select item 205634356.	NM_016203.4(PRKAG2):c.91C>G (p.Arg31Gly) GRCh37: Chr7:151573615 GRCh38: Chr7:151876530	PRKAG2	R31G	Lethal congenital glycogen storage disease of heart	Uncertain significance (Jun 7, 2022)	criteria provided, single submitter
Select item 205608957.	NM_016203.4(PRKAG2):c.1107-12del GRCh37: Chr7:151265940 GRCh38: Chr7:151568854	PRKAG2		Lethal congenital glycogen storage disease of heart	Likely benign (Sep 20, 2022)	criteria provided, single submitter
Select item 205547158.	NM_016203.4(PRKAG2):c.289A>G (p.Thr97Ala) GRCh37: Chr7:151478415 GRCh38: Chr7:151781329	PRKAG2	T53A, T97A	Lethal congenital glycogen storage disease of heart	Benign (Mar 14, 2022)	criteria provided, single submitter
Select item 205170059.	NM_016203.4(PRKAG2):c.254C>A (p.Pro85His) GRCh37: Chr7:151478450 GRCh38: Chr7:151781364	PRKAG2	P85H, P41H	Lethal congenital glycogen storage disease of heart	Uncertain significance (Dec 9, 2021)	criteria provided, single submitter
Select item 205031960.	NM_016203.4(PRKAG2):c.125C>T (p.Ser42Phe) GRCh37: Chr7:151483617 GRCh38: Chr7:151786531	PRKAG2	S42F	Lethal congenital glycogen storage disease of heart	Uncertain significance (Sep 13, 2022)	criteria provided, single submitter
Select item 204488661.	NM_016203.4(PRKAG2):c.665A>T (p.His222Leu) GRCh37: Chr7:151372525 GRCh38: Chr7:151675439	PRKAG2	H116L, H178L, H98L, H222L	Lethal congenital glycogen storage disease of heart	Uncertain significance (Mar 19, 2022)	criteria provided, single submitter
Select item 204286762.	NM_016203.4(PRKAG2):c.670G>A (p.Ala224Thr) GRCh37: Chr7:151372520 GRCh38: Chr7:151675434	PRKAG2	A224T, A100T, A118T, A180T	Lethal congenital glycogen storage disease of heart	Uncertain significance (Oct 17, 2022)	criteria provided, single submitter
Select item 203777163.	NM_016203.4(PRKAG2):c.314T>C (p.Val105Ala) GRCh37: Chr7:151478390 GRCh38: Chr7:151781304	PRKAG2	V61A, V105A	Lethal congenital glycogen storage disease of heart	Uncertain significance (Mar 2, 2022)	criteria provided, single submitter
Select item 203650964.	NM_016203.4(PRKAG2):c.684+14C>G GRCh37: Chr7:151372492 GRCh38: Chr7:151675406	PRKAG2		Lethal congenital glycogen storage disease of heart	Likely benign (Oct 22, 2022)	criteria provided, single submitter
Select item 203420165.	NM_016203.4(PRKAG2):c.1438-18T>C GRCh37: Chr7:151261328 GRCh38: Chr7:151564242	PRKAG2		Lethal congenital glycogen storage disease of heart	Likely benign (Oct 6, 2022)	criteria provided, single submitter
Select item 203073966.	NM_016203.4(PRKAG2):c.1642T>G (p.Ser548Ala) GRCh37: Chr7:151257646 GRCh38: Chr7:151560560	PRKAG2	S440A, S451A, S452A, S323A, S327A, S423A, S503A, S547A, S306A, S307A, S424A, S442A, S548A, S504A	Lethal congenital glycogen storage disease of heart	Uncertain significance (Sep 15, 2022)	criteria provided, single submitter
Select item 203061067.	NM_016203.4(PRKAG2):c.1006-13_1006-9dup GRCh37: Chr7:151269803-151269804 GRCh38: Chr7:151572717-151572718	PRKAG2		Lethal congenital glycogen storage disease of heart	Likely benign (Sep 15, 2022)	criteria provided, single submitter
Select item 202920468.	NM_016203.4(PRKAG2):c.441C>A (p.Ile147=) GRCh37: Chr7:151478263 GRCh38: Chr7:151781177	PRKAG2		Lethal congenital glycogen storage disease of heart	Likely benign (Sep 6, 2022)	criteria provided, single submitter
Select item 202362669.	NM_016203.4(PRKAG2):c.291C>A (p.Thr97=) GRCh37: Chr7:151478413 GRCh38: Chr7:151781327	PRKAG2		Lethal congenital glycogen storage disease of heart	Likely benign (Aug 12, 2022)	criteria provided, single submitter
Select item 202107370.	NM_016203.4(PRKAG2):c.9C>T (p.Ser3=) GRCh37: Chr7:151573697 GRCh38: Chr7:151876612	PRKAG2		Lethal congenital glycogen storage disease of heart	Likely benign (Feb 21, 2022)	criteria provided, single submitter
Select item 201829071.	NM_016203.4(PRKAG2):c.684+1G>C GRCh37: Chr7:151372505 GRCh38: Chr7:151675419	PRKAG2		Lethal congenital glycogen storage disease of heart	Uncertain significance (Aug 11, 2022)	criteria provided, single submitter
Select item 201503772.	NM_016203.4(PRKAG2):c.1603G>A (p.Val535Ile) GRCh37: Chr7:151257685 GRCh38: Chr7:151560599	PRKAG2	V310I, V411I, V429I, V491I, V535I, V427I, V439I, V293I, V294I, V314I, V490I, V410I, V438I, V534I	Lethal congenital glycogen storage disease of heart	Uncertain significance (Jul 29, 2022)	criteria provided, single submitter
Select item 201046173.	NM_016203.4(PRKAG2):c.947-7G>C GRCh37: Chr7:151272042 GRCh38: Chr7:151574956	PRKAG2		Lethal congenital glycogen storage disease of heart	Likely benign (Jun 25, 2022)	criteria provided, single submitter
Select item 199789474.	NM_016203.4(PRKAG2):c.249C>T (p.Pro83=) GRCh37: Chr7:151478455 GRCh38: Chr7:151781369	PRKAG2		Lethal congenital glycogen storage disease of heart	Likely benign (May 22, 2022)	criteria provided, single submitter
Select item 199595675.	NM_016203.4(PRKAG2):c.852T>C (p.Asp284=) GRCh37: Chr7:151292443 GRCh38: Chr7:151595357	PRKAG2		Lethal congenital glycogen storage disease of heart	Likely benign (May 18, 2022)	criteria provided, single submitter
Select item 199393576.	NM_016203.4(PRKAG2):c.813T>C (p.Tyr271=) GRCh37: Chr7:151292482 GRCh38: Chr7:151595396	PRKAG2		Lethal congenital glycogen storage disease of heart	Likely benign (May 13, 2022)	criteria provided, single submitter
Select item 199353677.	NM_016203.4(PRKAG2):c.254C>T (p.Pro85Leu) GRCh37: Chr7:151478450 GRCh38: Chr7:151781364	PRKAG2	P85L, P41L	Lethal congenital glycogen storage disease of heart	Uncertain significance (May 12, 2022)	criteria provided, single submitter
Select item 199151178.	NM_016203.4(PRKAG2):c.755-7C>A GRCh37: Chr7:151292547 GRCh38: Chr7:151595461	PRKAG2		Lethal congenital glycogen storage disease of heart	Likely benign (Oct 17, 2022)	criteria provided, single submitter
Select item 198691479.	NM_016203.4(PRKAG2):c.1358T>C (p.Val453Ala) GRCh37: Chr7:151262847 GRCh38: Chr7:151565761	PRKAG2	V211A, V328A, V356A, V408A, V232A, V345A, V452A, V212A, V228A, V347A, V409A, V329A, V357A, V453A	Lethal congenital glycogen storage disease of heart	Uncertain significance (Oct 5, 2022)	criteria provided, single submitter
Select item 198331880.	NM_016203.4(PRKAG2):c.1281G>A (p.Glu427=) GRCh37: Chr7:151262924 GRCh38: Chr7:151565838	PRKAG2		Lethal congenital glycogen storage disease of heart	Likely benign (Sep 30, 2022)	criteria provided, single submitter
Select item 198234981.	NM_016203.4(PRKAG2):c.1332C>T (p.Pro444=) GRCh37: Chr7:151262873 GRCh38: Chr7:151565787	PRKAG2		Lethal congenital glycogen storage disease of heart	Likely benign (May 2, 2022)	criteria provided, single submitter
Select item 197483282.	NM_016203.4(PRKAG2):c.24C>A (p.Thr8=) GRCh37: Chr7:151573682 GRCh38: Chr7:151876597	PRKAG2		Lethal congenital glycogen storage disease of heart	Likely benign (Oct 25, 2022)	criteria provided, single submitter
Select item 195849883.	NM_016203.4(PRKAG2):c.758T>C (p.Val253Ala) GRCh37: Chr7:151292537 GRCh38: Chr7:151595451	PRKAG2	I156T, V145A, V157A, V208A, V209A, V128A, V147A, V253A, V28A, V11A, V12A, V32A, V129A, V252A	Lethal congenital glycogen storage disease of heart	Uncertain significance (May 30, 2022)	criteria provided, single submitter
Select item 195577084.	NM_016203.4(PRKAG2):c.1305C>T (p.Asn435=) GRCh37: Chr7:151262900 GRCh38: Chr7:151565814	PRKAG2		Lethal congenital glycogen storage disease of heart	Likely benign (Apr 28, 2022)	criteria provided, single submitter
Select item 195373285.	NM_016203.4(PRKAG2):c.192C>T (p.Asp64=) GRCh37: Chr7:151478512 GRCh38: Chr7:151781426	PRKAG2		Lethal congenital glycogen storage disease of heart	Likely benign (Dec 23, 2021)	criteria provided, single submitter
Select item 195082286.	NM_016203.4(PRKAG2):c.924G>A (p.Glu308=) GRCh37: Chr7:151273479 GRCh38: Chr7:151576393	PRKAG2		Lethal congenital glycogen storage disease of heart	Likely benign (Oct 14, 2022)	criteria provided, single submitter
Select item 192772487.	NM_016203.4(PRKAG2):c.1438-17C>A GRCh37: Chr7:151261327 GRCh38: Chr7:151564241	PRKAG2		Lethal congenital glycogen storage disease of heart	Likely benign (Jul 13, 2022)	criteria provided, single submitter
Select item 192177988.	NM_016203.4(PRKAG2):c.777T>C (p.Gly259=) GRCh37: Chr7:151292518 GRCh38: Chr7:151595432	PRKAG2		Lethal congenital glycogen storage disease of heart	Likely benign (Mar 11, 2022)	criteria provided, single submitter
Select item 191455289.	NM_016203.4(PRKAG2):c.1679-12A>G GRCh37: Chr7:151254330 GRCh38: Chr7:151557244	PRKAG2		Lethal congenital glycogen storage disease of heart	Likely benign (Apr 2, 2022)	criteria provided, single submitter
Select item 191285790.	NM_016203.4(PRKAG2):c.114+14C>G GRCh37: Chr7:151573578 GRCh38: Chr7:151876493	PRKAG2		Lethal congenital glycogen storage disease of heart	Likely benign (Sep 23, 2022)	criteria provided, single submitter
Select item 191100391.	NM_016203.4(PRKAG2):c.321G>A (p.Pro107=) GRCh37: Chr7:151478383 GRCh38: Chr7:151781297	PRKAG2		Lethal congenital glycogen storage disease of heart	Likely benign (Aug 23, 2022)	criteria provided, single submitter
Select item 190775892.	NM_016203.4(PRKAG2):c.115-18G>A GRCh37: Chr7:151483645 GRCh38: Chr7:151786559	PRKAG2		Lethal congenital glycogen storage disease of heart	Likely benign (Dec 11, 2021)	criteria provided, single submitter
Select item 190453593.	NM_016203.4(PRKAG2):c.915A>C (p.Pro305=) GRCh37: Chr7:151273488 GRCh38: Chr7:151576402	PRKAG2		Lethal congenital glycogen storage disease of heart	Likely benign (Apr 5, 2022)	criteria provided, single submitter
Select item 189811894.	NM_016203.4(PRKAG2):c.568C>T (p.Arg190Cys) GRCh37: Chr7:151372622 GRCh38: Chr7:151675536	PRKAG2	R146C, R190C, R66C, R84C	Lethal congenital glycogen storage disease of heart	Uncertain significance (Aug 7, 2022)	criteria provided, single submitter
Select item 189665495.	NM_016203.4(PRKAG2):c.1296G>C (p.Thr432=) GRCh37: Chr7:151262909 GRCh38: Chr7:151565823	PRKAG2		Lethal congenital glycogen storage disease of heart	Likely benign (Dec 23, 2021)	criteria provided, single submitter
Select item 180309796.	NM_016203.4(PRKAG2):c.496C>T (p.Pro166Ser) GRCh37: Chr7:151372694 GRCh38: Chr7:151675608	PRKAG2	P122S, P166S, P42S, P60S	Lethal congenital glycogen storage disease of heart	Uncertain significance (Jul 11, 2019)	criteria provided, single submitter
Select item 179619297.	NM_016203.4(PRKAG2):c.27G>A (p.Lys9=) GRCh37: Chr7:151573679 GRCh38: Chr7:151876594	PRKAG2		Lethal congenital glycogen storage disease of heart, Cardiovascular phenotype	Likely benign (Jun 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 177757398.	NM_016203.4(PRKAG2):c.1666C>G (p.Leu556Val) GRCh37: Chr7:151257622 GRCh38: Chr7:151560536	PRKAG2	L431V, L432V, L450V, L459V, L555V, L315V, L512V, L314V, L335V, L448V, L331V, L460V, L511V, L556V	Cardiovascular phenotype, Lethal congenital glycogen storage disease of heart	Uncertain significance (Apr 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 177680699.	NM_016203.4(PRKAG2):c.162T>C (p.Gly54=) GRCh37: Chr7:151483580 GRCh38: Chr7:151786494	PRKAG2		Cardiovascular phenotype, Lethal congenital glycogen storage disease of heart	Likely benign (Mar 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 1776687100.	NM_016203.4(PRKAG2):c.1625T>C (p.Val542Ala) GRCh37: Chr7:151257663 GRCh38: Chr7:151560577	PRKAG2	V417A, V434A, V498A, V542A, V317A, V445A, V321A, V418A, V436A, V446A, V497A, V541A, V300A, V301A	Cardiovascular phenotype, Lethal congenital glycogen storage disease of heart	Uncertain significance (Jul 4, 2022)	criteria provided, multiple submitters, no conflicts

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