ClinVar for MedGen (Select 419152) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24253771.	NC_000011.9:g.(?_18420958)_(18428828_?)dup GRCh37: Chr11:18420958-18428828	LDHA		Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	Uncertain significance (Jun 10, 2022)	criteria provided, single submitter
Select item 24253762.	NC_000011.9:g.(?_18301429)_(18428828_?)dup GRCh37: Chr11:18301429-18428828	GTF2H1, HPS5, LDHA		Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	Uncertain significance (Jun 17, 2022)	criteria provided, single submitter
Select item 21959243.	NM_005566.4(LDHA):c.810G>A (p.Val270=) GRCh37: Chr11:18427095 GRCh38: Chr11:18405548	LDHA		Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	Likely benign (Jul 6, 2022)	criteria provided, single submitter
Select item 21917324.	NM_005566.4(LDHA):c.386C>T (p.Pro129Leu) GRCh37: Chr11:18422525 GRCh38: Chr11:18400978	LDHA	P129L, P158L	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	Uncertain significance (Aug 22, 2022)	criteria provided, single submitter
Select item 21905595.	NM_005566.4(LDHA):c.339C>T (p.Asn113=) GRCh37: Chr11:18422478 GRCh38: Chr11:18400931	LDHA		Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	Likely benign (Jul 21, 2022)	criteria provided, single submitter
Select item 21864806.	NM_005566.4(LDHA):c.300G>A (p.Gln100=) GRCh37: Chr11:18422439 GRCh38: Chr11:18400892	LDHA		Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	Likely benign (Sep 18, 2022)	criteria provided, single submitter
Select item 21797737.	NM_005566.4(LDHA):c.334C>T (p.Arg112Cys) GRCh37: Chr11:18422473 GRCh38: Chr11:18400926	LDHA	R112C, R141C	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	Uncertain significance (Oct 13, 2022)	criteria provided, single submitter
Select item 21787838.	NM_005566.4(LDHA):c.834+20C>T GRCh37: Chr11:18427139 GRCh38: Chr11:18405592	LDHA		Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	Likely benign (Mar 11, 2022)	criteria provided, single submitter
Select item 21777439.	NM_005566.4(LDHA):c.121A>G (p.Met41Val) GRCh37: Chr11:18418510 GRCh38: Chr11:18396963	LDHA	M70V, M41V	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	Uncertain significance (Jun 27, 2022)	criteria provided, single submitter
Select item 217361410.	NM_005566.4(LDHA):c.843C>T (p.Tyr281=) GRCh37: Chr11:18428672 GRCh38: Chr11:18407125	LDHA	T240M	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	Conflicting interpretations of pathogenicity (Aug 5, 2022)	criteria provided, conflicting interpretations
Select item 217237911.	NM_005566.4(LDHA):c.7A>G (p.Thr3Ala) GRCh37: Chr11:18418396 GRCh38: Chr11:18396849	LDHA	T32A, T3A	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	Uncertain significance (Sep 13, 2022)	criteria provided, single submitter
Select item 216804812.	NM_005566.4(LDHA):c.824C>T (p.Thr275Ile) GRCh37: Chr11:18427109 GRCh38: Chr11:18405562	LDHA	T275I, T304I, T217I	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	Uncertain significance (Jun 22, 2022)	criteria provided, single submitter
Select item 216471713.	NM_005566.4(LDHA):c.711-3C>T GRCh37: Chr11:18426993 GRCh38: Chr11:18405446	LDHA		Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	Uncertain significance (Jul 11, 2022)	criteria provided, single submitter
Select item 216010614.	NM_005566.4(LDHA):c.172T>C (p.Leu58=) GRCh37: Chr11:18421023 GRCh38: Chr11:18399476	LDHA		Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	Likely benign (Oct 17, 2022)	criteria provided, single submitter
Select item 216009215.	NM_005566.4(LDHA):c.999_*1del (p.Phe332_Ter333insTer) GRCh37: Chr11:18428827-18428828 GRCh38: Chr11:18407280-18407281	LDHA	K244fs	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	Likely benign (Aug 19, 2022)	criteria provided, single submitter
Select item 214940416.	NM_005566.4(LDHA):c.416C>T (p.Pro139Leu) GRCh37: Chr11:18422555 GRCh38: Chr11:18401008	LDHA	P168L, P139L	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	Uncertain significance (Feb 23, 2022)	criteria provided, single submitter
Select item 214747917.	NM_005566.4(LDHA):c.445A>G (p.Lys149Glu) GRCh37: Chr11:18424413 GRCh38: Chr11:18402866	LDHA	K149E, K178E, K91E	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	Uncertain significance (Aug 7, 2022)	criteria provided, single submitter
Select item 214716518.	NM_005566.4(LDHA):c.269A>G (p.Lys90Arg) GRCh37: Chr11:18422408 GRCh38: Chr11:18400861	LDHA	K90R, K119R	Inborn genetic diseases, Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	Uncertain significance (Jul 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 214490819.	NM_005566.4(LDHA):c.808G>T (p.Val270Leu) GRCh37: Chr11:18427093 GRCh38: Chr11:18405546	LDHA	V212L, V270L, V299L	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	Uncertain significance (Apr 25, 2022)	criteria provided, single submitter
Select item 213997020.	NM_005566.4(LDHA):c.593-20G>A GRCh37: Chr11:18425221 GRCh38: Chr11:18403674	LDHA		Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	Likely benign (Mar 19, 2022)	criteria provided, single submitter
Select item 213702821.	NM_005566.4(LDHA):c.505C>T (p.Arg169Ter) GRCh37: Chr11:18424473 GRCh38: Chr11:18402926	LDHA	R198, R169, R111*	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	Pathogenic (Aug 2, 2022)	criteria provided, single submitter
Select item 213702722.	NM_005566.4(LDHA):c.369TGT[1] (p.Val125del) GRCh37: Chr11:18422508-18422510 GRCh38: Chr11:18400961-18400963	LDHA	V125del, V154del	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	Uncertain significance (Mar 1, 2022)	criteria provided, single submitter
Select item 213702623.	NM_005566.4(LDHA):c.244G>A (p.Asp82Asn) GRCh37: Chr11:18421095 GRCh38: Chr11:18399548	LDHA	D111N, D82N, V82M	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	Likely pathogenic (Mar 12, 2022)	criteria provided, single submitter
Select item 213502724.	NM_005566.4(LDHA):c.315C>T (p.Ser105=) GRCh37: Chr11:18422454 GRCh38: Chr11:18400907	LDHA		Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	Likely benign (Jul 15, 2022)	criteria provided, single submitter
Select item 210376825.	NM_005566.4(LDHA):c.231T>C (p.Ile77=) GRCh37: Chr11:18421082 GRCh38: Chr11:18399535	LDHA		Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	Likely benign (Jul 30, 2022)	criteria provided, single submitter
Select item 210242126.	NM_005566.4(LDHA):c.245-11C>T GRCh37: Chr11:18422373 GRCh38: Chr11:18400826	LDHA		Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	Likely benign (Sep 20, 2022)	criteria provided, single submitter
Select item 209740227.	NM_005566.4(LDHA):c.83T>C (p.Val28Ala) GRCh37: Chr11:18418472 GRCh38: Chr11:18396925	LDHA	V28A, V57A	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	Uncertain significance (Feb 13, 2022)	criteria provided, single submitter
Select item 208860928.	NM_005566.4(LDHA):c.493C>A (p.Leu165Met) GRCh37: Chr11:18424461 GRCh38: Chr11:18402914	LDHA	L165M, L194M, L107M	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	Uncertain significance (Jan 21, 2022)	criteria provided, single submitter
Select item 207047629.	NM_005566.4(LDHA):c.52A>G (p.Thr18Ala) GRCh37: Chr11:18418441 GRCh38: Chr11:18396894	LDHA	T18A, T47A	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	Uncertain significance (Apr 15, 2022)	criteria provided, single submitter
Select item 206865330.	NM_005566.4(LDHA):c.943C>T (p.Arg315Cys) GRCh37: Chr11:18428772 GRCh38: Chr11:18407225	LDHA	R315C, R257C, R344C	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	Uncertain significance (Mar 31, 2022)	criteria provided, single submitter
Select item 206828931.	NM_005566.4(LDHA):c.53C>G (p.Thr18Ser) GRCh37: Chr11:18418442 GRCh38: Chr11:18396895	LDHA	T47S, T18S	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	Uncertain significance (Aug 16, 2022)	criteria provided, single submitter
Select item 206154932.	NM_005566.4(LDHA):c.126G>A (p.Lys42=) GRCh37: Chr11:18418515 GRCh38: Chr11:18396968	LDHA		Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	Uncertain significance (Jul 12, 2022)	criteria provided, single submitter
Select item 204999433.	NM_005566.4(LDHA):c.732C>T (p.Leu244=) GRCh37: Chr11:18427017 GRCh38: Chr11:18405470	LDHA		Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	Likely benign (Apr 26, 2022)	criteria provided, single submitter
Select item 204173534.	NM_005566.4(LDHA):c.835-14C>T GRCh37: Chr11:18428650 GRCh38: Chr11:18407103	LDHA		Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	Likely benign (Feb 20, 2022)	criteria provided, single submitter
Select item 203027835.	NM_005566.4(LDHA):c.273G>C (p.Leu91=) GRCh37: Chr11:18422412 GRCh38: Chr11:18400865	LDHA		Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	Likely benign (Sep 13, 2022)	criteria provided, single submitter
Select item 199994736.	NM_005566.4(LDHA):c.57C>G (p.Pro19=) GRCh37: Chr11:18418446 GRCh38: Chr11:18396899	LDHA		Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	Likely benign (May 28, 2022)	criteria provided, single submitter
Select item 198529037.	NM_005566.4(LDHA):c.821C>T (p.Ser274Phe) GRCh37: Chr11:18427106 GRCh38: Chr11:18405559	LDHA	S216F, S274F, S303F	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	Uncertain significance (May 22, 2022)	criteria provided, single submitter
Select item 198416438.	NM_005566.4(LDHA):c.436G>A (p.Val146Met) GRCh37: Chr11:18424404 GRCh38: Chr11:18402857	LDHA	V175M, V146M, V88M	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	Uncertain significance (Apr 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 197904439.	NM_005566.4(LDHA):c.484G>A (p.Gly162Ser) GRCh37: Chr11:18424452 GRCh38: Chr11:18402905	LDHA	G162S, G104S, G191S	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	Uncertain significance (Jun 29, 2022)	criteria provided, single submitter
Select item 197856840.	NM_005566.4(LDHA):c.460C>T (p.Pro154Ser) GRCh37: Chr11:18424428 GRCh38: Chr11:18402881	LDHA	P96S, P154S, P183S	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	Uncertain significance (May 24, 2022)	criteria provided, single submitter
Select item 197757641.	NM_005566.4(LDHA):c.396G>T (p.Lys132Asn) GRCh37: Chr11:18422535 GRCh38: Chr11:18400988	LDHA	K132N, K161N	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	Uncertain significance (Sep 12, 2022)	criteria provided, single submitter
Select item 196930842.	NM_005566.4(LDHA):c.386C>G (p.Pro129Arg) GRCh37: Chr11:18422525 GRCh38: Chr11:18400978	LDHA	P129R, P158R	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	Uncertain significance (Jun 12, 2022)	criteria provided, single submitter
Select item 196340143.	NM_005566.4(LDHA):c.340G>A (p.Val114Met) GRCh37: Chr11:18422479 GRCh38: Chr11:18400932	LDHA	V143M, V114M	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	Uncertain significance (Oct 24, 2022)	criteria provided, single submitter
Select item 194513544.	NM_005566.4(LDHA):c.189G>A (p.Met63Ile) GRCh37: Chr11:18421040 GRCh38: Chr11:18399493	LDHA	M63I, M92I	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	Uncertain significance (Jun 28, 2022)	criteria provided, single submitter
Select item 194261845.	NM_005566.4(LDHA):c.861C>T (p.Val287=) GRCh37: Chr11:18428690 GRCh38: Chr11:18407143	LDHA		Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	Likely benign (Apr 17, 2022)	criteria provided, single submitter
Select item 193803546.	NM_005566.4(LDHA):c.803G>A (p.Arg268Lys) GRCh37: Chr11:18427088 GRCh38: Chr11:18405541	LDHA	R210K, R297K, R268K	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	Uncertain significance (Jul 19, 2022)	criteria provided, single submitter
Select item 192729747.	NM_005566.4(LDHA):c.766G>A (p.Val256Ile) GRCh37: Chr11:18427051 GRCh38: Chr11:18405504	LDHA	V256I, V285I, V198I	Inborn genetic diseases, Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	Uncertain significance (May 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 192574248.	NM_005566.4(LDHA):c.126+2T>C GRCh37: Chr11:18418517 GRCh38: Chr11:18396970	LDHA		Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	Likely pathogenic (Jun 3, 2022)	criteria provided, single submitter
Select item 192429049.	NM_005566.4(LDHA):c.710+5T>C GRCh37: Chr11:18425363 GRCh38: Chr11:18403816	LDHA		Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	Uncertain significance (Jun 22, 2022)	criteria provided, single submitter
Select item 192426250.	NM_005566.4(LDHA):c.882T>C (p.Ile294=) GRCh37: Chr11:18428711 GRCh38: Chr11:18407164	LDHA		Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	Likely benign (Sep 27, 2022)	criteria provided, single submitter
Select item 191089551.	NM_005566.4(LDHA):c.762C>G (p.Leu254=) GRCh37: Chr11:18427047 GRCh38: Chr11:18405500	LDHA		Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	Likely benign (Jul 6, 2022)	criteria provided, single submitter
Select item 190431252.	NM_005566.4(LDHA):c.53C>T (p.Thr18Ile) GRCh37: Chr11:18418442 GRCh38: Chr11:18396895	LDHA	T47I, T18I	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	Uncertain significance (Feb 28, 2022)	criteria provided, single submitter
Select item 190340453.	NM_005566.4(LDHA):c.308G>A (p.Gly103Glu) GRCh37: Chr11:18422447 GRCh38: Chr11:18400900	LDHA	G103E, G132E	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	Uncertain significance (May 24, 2022)	criteria provided, single submitter
Select item 189741554.	NM_005566.4(LDHA):c.543C>T (p.His181=) GRCh37: Chr11:18424511 GRCh38: Chr11:18402964	LDHA		Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	Likely benign (Aug 27, 2022)	criteria provided, single submitter
Select item 171753555.	NM_005566.4(LDHA):c.280A>T (p.Ile94Phe) GRCh37: Chr11:18422419 GRCh38: Chr11:18400872	LDHA	I123F, I94F	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	Uncertain significance (Aug 22, 2022)	criteria provided, single submitter
Select item 171131756.	NM_005566.4(LDHA):c.854A>T (p.Asp285Val) GRCh37: Chr11:18428683 GRCh38: Chr11:18407136	LDHA	D227V, D285V, D314V	not provided, Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	Uncertain significance (Oct 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 158408357.	NM_005566.4(LDHA):c.127-14T>C GRCh37: Chr11:18420964 GRCh38: Chr11:18399417	LDHA		Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	Likely benign (Sep 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 158352358.	NM_005566.4(LDHA):c.710+19T>C GRCh37: Chr11:18425377 GRCh38: Chr11:18403830	LDHA		Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	Likely benign (Aug 23, 2022)	criteria provided, single submitter
Select item 157617659.	NM_005566.4(LDHA):c.593-7C>A GRCh37: Chr11:18425234 GRCh38: Chr11:18403687	LDHA		Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	Likely benign (Jul 30, 2021)	criteria provided, single submitter
Select item 151792060.	NM_005566.4(LDHA):c.925A>C (p.Thr309Pro) GRCh37: Chr11:18428754 GRCh38: Chr11:18407207	LDHA	T251P, T309P, T338P	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	Uncertain significance (Nov 17, 2021)	criteria provided, single submitter
Select item 148295161.	NM_005566.4(LDHA):c.117C>G (p.Ile39Met) GRCh37: Chr11:18418506 GRCh38: Chr11:18396959	LDHA	I39M, I68M	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	Uncertain significance (Dec 10, 2021)	criteria provided, single submitter
Select item 144404662.	NC_000011.9:g.(?_18428644)_(18428828_?)dup GRCh37: Chr11:18428644-18428828	LDHA		Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	Uncertain significance (Jul 22, 2022)	criteria provided, single submitter
Select item 141187563.	NM_005566.4(LDHA):c.470G>A (p.Arg157His) GRCh37: Chr11:18424438 GRCh38: Chr11:18402891	LDHA	R157H, R99H, R186H	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	Uncertain significance (Mar 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 140712264.	NM_005566.4(LDHA):c.170A>G (p.Lys57Arg) GRCh37: Chr11:18421021 GRCh38: Chr11:18399474	LDHA	K86R, K57R	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 139469165.	NM_005566.4(LDHA):c.833A>C (p.Lys278Thr) GRCh37: Chr11:18427118 GRCh38: Chr11:18405571	LDHA	K220T, K278T, K307T	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	Uncertain significance (Jun 5, 2022)	criteria provided, single submitter
Select item 110095666.	NM_005566.4(LDHA):c.138T>C (p.Asp46=) GRCh37: Chr11:18420989 GRCh38: Chr11:18399442	LDHA		Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	Likely benign (Oct 19, 2020)	criteria provided, single submitter
Select item 104716767.	NM_005566.4(LDHA):c.163G>A (p.Glu55Lys) GRCh37: Chr11:18421014 GRCh38: Chr11:18399467	LDHA	E84K, E55K	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 104694968.	NM_005566.4(LDHA):c.8C>T (p.Thr3Ile) GRCh37: Chr11:18418397 GRCh38: Chr11:18396850	LDHA	T3I, T32I	not provided, Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	Uncertain significance (Sep 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 102839869.	NM_005566.4(LDHA):c.476T>A (p.Ile159Asn) GRCh37: Chr11:18424444 GRCh38: Chr11:18402897	LDHA	I101N, I159N, I188N	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	Uncertain significance (Jul 14, 2019)	criteria provided, single submitter
Select item 100635170.	NM_005566.4(LDHA):c.944G>A (p.Arg315His) GRCh37: Chr11:18428773 GRCh38: Chr11:18407226	LDHA	R257H, R315H, R344H	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	Uncertain significance (Sep 2, 2021)	criteria provided, single submitter
Select item 100622671.	NM_005566.4(LDHA):c.975G>T (p.Gly325=) GRCh37: Chr11:18428804 GRCh38: Chr11:18407257	LDHA	D236Y	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	Uncertain significance (Sep 2, 2021)	criteria provided, single submitter
Select item 97671172.	GRCh37/hg19 11p15.1(chr11:18418095-18422557) GRCh37: Chr11:18418095-18422557	LDHA		Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	Pathogenic (Jun 15, 2020)	criteria provided, single submitter
Select item 93854973.	NM_005566.4(LDHA):c.764_765del (p.Ser255fs) GRCh37: Chr11:18427045-18427046 GRCh38: Chr11:18405498-18405499	LDHA	S197fs, S255fs, S284fs	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	Uncertain significance (May 31, 2019)	criteria provided, single submitter
Select item 87988774.	NM_005566.4(LDHA):c.*694C>T GRCh37: Chr11:18429522 GRCh38: Chr11:18407975	LDHA		Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87988675.	NM_005566.4(LDHA):c.*666C>T GRCh37: Chr11:18429494 GRCh38: Chr11:18407947	LDHA		Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	Uncertain significance (Jan 22, 2018)	criteria provided, single submitter
Select item 87983176.	NM_005566.4(LDHA):c.406G>A (p.Val136Ile) GRCh37: Chr11:18422545 GRCh38: Chr11:18400998	LDHA	V165I, V136I	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	Conflicting interpretations of pathogenicity (Sep 27, 2022)	criteria provided, conflicting interpretations
Select item 87983077.	NM_005566.4(LDHA):c.249T>C (p.Tyr83=) GRCh37: Chr11:18422388 GRCh38: Chr11:18400841	LDHA		Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	Conflicting interpretations of pathogenicity (Aug 29, 2022)	criteria provided, conflicting interpretations
Select item 87952078.	NM_005566.4(LDHA):c.*604A>T GRCh37: Chr11:18429432 GRCh38: Chr11:18407885	LDHA		Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87951979.	NM_005566.4(LDHA):c.*312G>A GRCh37: Chr11:18429140 GRCh38: Chr11:18407593	LDHA		Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87947680.	NM_005566.4(LDHA):c.137A>T (p.Asp46Val) GRCh37: Chr11:18420988 GRCh38: Chr11:18399441	LDHA	D46V, D75V	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	Uncertain significance (Apr 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 87947581.	NM_005566.4(LDHA):c.47A>G (p.Glu16Gly) GRCh37: Chr11:18418436 GRCh38: Chr11:18396889	LDHA	E16G, E45G	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87947482.	NM_005566.4(LDHA):c.30T>C (p.Tyr10=) GRCh37: Chr11:18418419 GRCh38: Chr11:18396872	LDHA		Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	Uncertain significance (Apr 28, 2017)	criteria provided, single submitter
Select item 87947383.	NM_005566.4(LDHA):c.-24-10C>G GRCh37: Chr11:18418356 GRCh38: Chr11:18396809	LDHA		Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	Likely benign (Dec 2, 2021)	criteria provided, multiple submitters, no conflicts
Select item 87947284.	NM_005566.4(LDHA):c.-64T>C GRCh37: Chr11:18416144 GRCh38: Chr11:18394597	LDHA		Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87806085.	NM_005566.4(LDHA):c.*228G>A GRCh37: Chr11:18429056 GRCh38: Chr11:18407509	LDHA		Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87805986.	NM_005566.4(LDHA):c.*129A>G GRCh37: Chr11:18428957 GRCh38: Chr11:18407410	LDHA		Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87805887.	NM_005566.4(LDHA):c.*52G>T GRCh37: Chr11:18428880 GRCh38: Chr11:18407333	LDHA	G261V	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	Uncertain significance (Jan 15, 2018)	criteria provided, single submitter
Select item 87805788.	NM_005566.4(LDHA):c.*48C>T GRCh37: Chr11:18428876 GRCh38: Chr11:18407329	LDHA		Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	Uncertain significance (Jan 15, 2018)	criteria provided, single submitter
Select item 87805689.	NM_005566.4(LDHA):c.*18T>C GRCh37: Chr11:18428846 GRCh38: Chr11:18407299	LDHA	S250P	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	Uncertain significance (Jan 15, 2018)	criteria provided, single submitter
Select item 87795090.	NM_005566.4(LDHA):c.*914A>G GRCh37: Chr11:18429742 GRCh38: Chr11:18408195	LDHA		Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87794991.	NM_005566.4(LDHA):c.*762T>G GRCh37: Chr11:18429590 GRCh38: Chr11:18408043	LDHA		Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87789292.	NM_005566.4(LDHA):c.984G>A (p.Lys328=) GRCh37: Chr11:18428813 GRCh38: Chr11:18407266	LDHA	G239R	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	Uncertain significance (Jan 15, 2018)	criteria provided, single submitter
Select item 87789193.	NM_005566.4(LDHA):c.538G>T (p.Val180Phe) GRCh37: Chr11:18424506 GRCh38: Chr11:18402959	LDHA	V209F, V122F, V180F	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	Uncertain significance (Mar 23, 2018)	criteria provided, single submitter
Select item 85502594.	NM_005566.4(LDHA):c.592+7A>G GRCh37: Chr11:18424567 GRCh38: Chr11:18403020	LDHA		Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	Uncertain significance (Aug 27, 2021)	criteria provided, single submitter
Select item 79663395.	NM_005566.4(LDHA):c.39A>C (p.Leu13=) GRCh37: Chr11:18418428 GRCh38: Chr11:18396881	LDHA		Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	Likely benign (Sep 2, 2022)	criteria provided, single submitter
Select item 78678496.	NM_005566.4(LDHA):c.672G>A (p.Lys224=) GRCh37: Chr11:18425320 GRCh38: Chr11:18403773	LDHA		Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	Likely benign (Jun 22, 2021)	criteria provided, single submitter
Select item 74272097.	NM_005566.4(LDHA):c.710+9T>A GRCh37: Chr11:18425367 GRCh38: Chr11:18403820	LDHA		Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	Benign (Dec 6, 2021)	criteria provided, single submitter
Select item 72198598.	NM_005566.4(LDHA):c.291G>A (p.Gly97=) GRCh37: Chr11:18422430 GRCh38: Chr11:18400883	LDHA		Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	Likely benign (Sep 26, 2018)	criteria provided, single submitter
Select item 68141999.	NM_005566.4(LDHA):c.594G>C (p.Val198=) GRCh37: Chr11:18425242 GRCh38: Chr11:18403695	LDHA		not provided, Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	Likely benign (Sep 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 632156100.	NM_005566.4(LDHA):c.675del (p.Glu225fs) GRCh37: Chr11:18425322 GRCh38: Chr11:18403775	LDHA	E167fs, E254fs, E225fs	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	Uncertain significance (Dec 10, 2018)	criteria provided, single submitter

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