Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_000289.6(PFKM):c.1341+1G>T	SNV Germline	Chr12:48140872	Pathogenic	Glycogen storage disease, type VII	No Assertion Criteria Provided		rs_755419857	1 SubmittersRCV000001211
NM_000289.6(PFKM):c.428-2A>C	SNV Germline	Chr12:48133313	Pathogenic	Glycogen storage disease, type VII	No Assertion Criteria Provided		rs_895690691	1 SubmittersRCV000001212
NM_000289.6(PFKM):c.116G>C (p.Arg39Pro)	SNV Germline	Chr12:48130393	Pathogenic/Likely pathogenic	Glycogen storage disease, type VII	Criteria Provided Multiple Submitters No Conflicts	CA114800	rs_121918193	4 SubmittersRCV000001213
NM_000289.6(PFKM):c.116G>T (p.Arg39Leu)	SNV Germline	Chr12:48130393	Pathogenic	Glycogen storage disease, type VII	No Assertion Criteria Provided	CA114804	rs_121918193	1 SubmittersRCV000001216
NM_000289.6(PFKM):c.283C>T (p.Arg95Ter)	SNV Germline	Chr12:48132913	Pathogenic/Likely pathogenic	Glycogen storage disease, type VII	Criteria Provided Multiple Submitters No Conflicts	CA114806	rs_121918195	4 SubmittersRCV000001217
NM_000289.6(PFKM):c.2058G>T (p.Trp686Cys)	SNV Germline	Chr12:48145096	Pathogenic	Glycogen storage disease, type VII	No Assertion Criteria Provided	CA114809	rs_121918196	1 SubmittersRCV000001218
NM_005609.4(PYGM):c.148C>T (p.Arg50Ter)	SNV Germline	Chr11:64759751	Pathogenic	Glycogen storage disease, type V Condition: not provided Inborn genetic diseases See cases Tip-toe gait	Criteria Provided Multiple Submitters No Conflicts	CA222884	rs_116987552	34 SubmittersRCV000002388 RCV000081306 RCV000622729 RCV002251857 RCV003319158
NM_005609.4(PYGM):c.613G>A (p.Gly205Ser)	SNV Germline	Chr11:64757826	Pathogenic	Glycogen storage disease, type V Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA339962	rs_119103251	13 SubmittersRCV000002389 RCV000414632
NM_005609.4(PYGM):c.1628A>C (p.Lys543Thr)	SNV Germline	Chr11:64752064	Pathogenic	Glycogen storage disease, type V	Criteria Provided Single Submitter	CA339963	rs_119103252	3 SubmittersRCV000002390
NM_005609.4(PYGM):c.1963G>A (p.Glu655Lys)	SNV Germline	Chr11:64751331	Likely pathogenic	Glycogen storage disease, type V	Criteria Provided Multiple Submitters No Conflicts	CA252200	rs_119103253	4 SubmittersRCV000002392
NM_005609.4(PYGM):c.1996C>G (p.Gln666Glu)	SNV Germline	Chr11:64750557	Conflicting classifications of pathogenicity	Glycogen storage disease, type V Condition: not provided	Criteria Provided Conflicting Classifications	CA252201	rs_119103256	4 SubmittersRCV000002393 RCV003441700
NM_005609.4(PYGM):c.1187T>C (p.Leu396Pro)	SNV Germline	Chr11:64753931	Pathogenic	Glycogen storage disease, type V	No Assertion Criteria Provided	CA252202	rs_119103254	1 SubmittersRCV000002394
NM_005609.4(PYGM):c.2056G>A (p.Gly686Arg)	SNV Germline	Chr11:64750497	Pathogenic/Likely pathogenic	Glycogen storage disease, type V Condition: not provided PYGM-related disorder Tip-toe gait	Criteria Provided Multiple Submitters No Conflicts	CA252204	rs_144081869	8 SubmittersRCV000002396 RCV001091628 RCV003407258 RCV003319973
NM_005609.4(PYGM):c.1726C>T (p.Arg576Ter)	SNV Germline	Chr11:64751966	Pathogenic/Likely pathogenic	Glycogen storage disease, type V Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA252206	rs_119103255	13 SubmittersRCV000002397 RCV000578544
NM_005609.4(PYGM):c.1A>G (p.Met1Val)	SNV Germline	Chr11:64759898	Pathogenic/Likely pathogenic	Glycogen storage disease, type V Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA252209	rs_267606993	7 SubmittersRCV000002399 RCV001579810
NM_005609.4(PYGM):c.1621G>T (p.Glu541Ter)	SNV Germline	Chr11:64752071	Pathogenic	Glycogen storage disease, type V	No Assertion Criteria Provided	CA252211	rs_119103257	1 SubmittersRCV000002400
NM_005609.4(PYGM):c.2392T>C (p.Trp798Arg)	SNV Germline	Chr11:64746796	Pathogenic/Likely pathogenic	Glycogen storage disease, type V Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA222889	rs_119103258	13 SubmittersRCV000002402 RCV000081312
NM_005609.4(PYGM):c.1827G>A (p.Lys609=)	SNV Germline	Chr11:64751597	Pathogenic/Likely pathogenic	Glycogen storage disease, type V See cases	Criteria Provided Multiple Submitters No Conflicts	CA339964	rs_119103259	8 SubmittersRCV000002403 RCV002251858
NM_005609.4(PYGM):c.1722T>G (p.Tyr574Ter)	SNV Germline	Chr11:64751970	Likely pathogenic	Glycogen storage disease, type V	Criteria Provided Single Submitter	CA252213	rs_119103260	2 SubmittersRCV000002404
NM_005609.4(PYGM):c.661-601G>A	SNV Germline	Chr11:64756159	Pathogenic/Likely pathogenic	McArdle disease, mild Glycogen storage disease, type V	Criteria Provided Multiple Submitters No Conflicts		rs_1474863903	3 SubmittersRCV000002405 RCV001851580
NM_005609.4(PYGM):c.425-26A>G	SNV Germline	Chr11:64758375	Pathogenic/Likely pathogenic	McArdle disease, mild Glycogen storage disease, type V Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA212798	rs_764313717	8 SubmittersRCV000002406 RCV000454242 RCV001564860
NM_002863.5(PYGL):c.1768+1G>A	SNV Germline	Chr14:50912155	Pathogenic	Glycogen storage disease, type VI	Criteria Provided Multiple Submitters No Conflicts	CA341169	rs_113993982	7 SubmittersRCV000012772
NM_002863.5(PYGL):c.529-1G>C	SNV Germline	Chr14:50924101	Pathogenic	Glycogen storage disease, type VI	No Assertion Criteria Provided	CA341170	rs_113993974	2 SubmittersRCV000012773
NM_002863.5(PYGL):c.1131C>G (p.Asn377Lys)	SNV Germline	Chr14:50915933	Pathogenic	Glycogen storage disease, type VI	No Assertion Criteria Provided	CA341171	rs_113993977	2 SubmittersRCV000012775
NM_002863.5(PYGL):c.1620+1G>A	SNV Germline	Chr14:50913028	Likely pathogenic	Glycogen storage disease, type VI	Criteria Provided Single Submitter	CA341172	rs_113993981	3 SubmittersRCV000012776
NM_002863.5(PYGL):c.1195C>T (p.Arg399Ter)	SNV Germline	Chr14:50915869	Pathogenic	Glycogen storage disease, type VI Condition: not provided	Criteria Provided Single Submitter	CA341904	rs_113993978	2 SubmittersRCV000020492 RCV000760439
NM_002863.5(PYGL):c.1366G>A (p.Val456Met)	SNV Germline	Chr14:50915373	Pathogenic	Glycogen storage disease, type VI	Criteria Provided Single Submitter	CA341906	rs_113993979	2 SubmittersRCV000020493
NM_002863.5(PYGL):c.1471C>T (p.Arg491Cys)	SNV Germline	Chr14:50914748	Pathogenic	Glycogen storage disease, type VI	Criteria Provided Single Submitter	CA341908	rs_113993980	2 SubmittersRCV000020494
NM_002863.5(PYGL):c.1900G>C (p.Asp634His)	SNV Germline	Chr14:50911799	Conflicting classifications of pathogenicity	Glycogen storage disease, type VI Condition: not provided PYGL-related disorder	Criteria Provided Conflicting Classifications	CA240710	rs_35026927	12 SubmittersRCV000020496 RCV000675363 RCV003934845
NM_002863.5(PYGL):c.2024C>T (p.Ser675Leu)	SNV Germline	Chr14:50910048	Likely pathogenic	Glycogen storage disease, type VI	Criteria Provided Single Submitter	CA341916	rs_113993986	2 SubmittersRCV000020499
NM_002863.5(PYGL):c.280C>T (p.Arg94Ter)	SNV Germline	Chr14:50937801	Pathogenic	Glycogen storage disease, type VI	Criteria Provided Single Submitter	CA341922	rs_113993973	2 SubmittersRCV000020502
NM_002863.5(PYGL):c.698G>A (p.Gly233Asp)	SNV Germline	Chr14:50921030	Pathogenic	Glycogen storage disease, type VI	Criteria Provided Single Submitter	CA341926	rs_113993975	2 SubmittersRCV000020504
NM_002863.5(PYGL):c.1016A>G (p.Asn339Ser)	SNV Germline	Chr14:50916718	Pathogenic	Glycogen storage disease, type VI	No Assertion Criteria Provided	CA342908	rs_113993976	2 SubmittersRCV000031853
NM_005609.4(PYGM):c.152A>G (p.Asp51Gly)	SNV Germline	Chr11:64759747	Likely pathogenic	Glycogen storage disease, type V	Criteria Provided Single Submitter	CA261238	rs_397514631	2 SubmittersRCV000033140
NM_005609.4(PYGM):c.1366G>A (p.Val456Met)	SNV Germline	Chr11:64753556	Pathogenic/Likely pathogenic	Condition: not provided Glycogen storage disease, type V	Criteria Provided Multiple Submitters No Conflicts	CA222880	rs_398124208	4 SubmittersRCV000790687 RCV000169330
NM_005609.4(PYGM):c.1466C>G (p.Pro489Arg)	SNV Germline	Chr11:64753125	Pathogenic/Likely pathogenic	Glycogen storage disease, type V Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA222882	rs_398124209	7 SubmittersRCV001047041 RCV000081305
NM_005609.4(PYGM):c.1957C>G (p.Leu653Val)	SNV Germline	Chr11:64751337	Conflicting classifications of pathogenicity	Condition: not provided Glycogen storage disease, type V Tip-toe gait	Criteria Provided Conflicting Classifications	CA222886	rs_61736659	7 SubmittersRCV000723589 RCV000763760 RCV002227444
NM_005609.4(PYGM):c.645G>A (p.Lys215=)	SNV Germline	Chr11:64757794	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases not specified Glycogen storage disease, type V	Criteria Provided Conflicting Classifications	CA148401	rs_116315896	12 SubmittersRCV000585529 RCV003298135 RCV000081315 RCV000128552
NM_005609.4(PYGM):c.999+20C>T	SNV Germline	Chr11:64754673	Conflicting classifications of pathogenicity	not specified Condition: not provided Glycogen storage disease, type V PYGM-related disorder	Criteria Provided Conflicting Classifications	CA222892	rs_201711087	5 SubmittersRCV000238806 RCV000723472 RCV001510568 RCV004752741
NM_005609.4(PYGM):c.255C>A (p.Tyr85Ter)	SNV Germline	Chr11:64758693	Pathogenic/Likely pathogenic	Glycogen storage disease, type V	Criteria Provided Multiple Submitters No Conflicts	CA345696	rs_527236146	4 SubmittersRCV000128551
NM_005609.4(PYGM):c.1A>C (p.Met1Leu)	SNV Germline	Chr11:64759898	Pathogenic	Glycogen storage disease, type V	Criteria Provided Multiple Submitters No Conflicts	CA270754	rs_267606993	4 SubmittersRCV000144425
NM_005609.4(PYGM):c.848A>G (p.Asn283Ser)	SNV Germline	Chr11:64755280	Conflicting classifications of pathogenicity	Glycogen storage disease, type V Condition: not provided PYGM-related disorder	Criteria Provided Conflicting Classifications	CA234752	rs_114468011	10 SubmittersRCV000370261 RCV000723895 RCV003895051
NM_005609.4(PYGM):c.808C>T (p.Arg270Ter)	SNV Germline	Chr11:64755320	Pathogenic/Likely pathogenic	Glycogen storage disease, type V Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA274003	rs_767739769	7 SubmittersRCV000169167 RCV000627209
NM_000289.6(PFKM):c.237+1G>A	SNV Germline	Chr12:48131394	Pathogenic/Likely pathogenic	Glycogen storage disease, type VII Rhabdomyolysis Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA199168	rs_202143236	11 SubmittersRCV000169670 RCV000662285 RCV002243838
NM_005609.4(PYGM):c.182G>A (p.Arg61His)	SNV Germline	Chr11:64759717	Conflicting classifications of pathogenicity	not specified Condition: not provided Glycogen storage disease, type V	Criteria Provided Conflicting Classifications	CA238832	rs_145514333	6 SubmittersRCV000173380 RCV000828466 RCV000664912
NM_005609.4(PYGM):c.1237A>T (p.Asn413Tyr)	SNV Germline	Chr11:64753881	Conflicting classifications of pathogenicity	Glycogen storage disease, type V Condition: not provided PYGM-related disorder	Criteria Provided Conflicting Classifications	CA239269	rs_142054672	7 SubmittersRCV001079321 RCV000675637 RCV003937552
NM_005609.4(PYGM):c.1537A>G (p.Ile513Val)	SNV Germline	Chr11:64752486	Conflicting classifications of pathogenicity	Condition: not provided Glycogen storage disease, type V not specified PYGM-related disorder Tip-toe gait	Criteria Provided Conflicting Classifications	CA240092	rs_139570786	12 SubmittersRCV000675632 RCV000509394 RCV003330533 RCV003430725 RCV001849178
NM_005609.4(PYGM):c.1768+1G>A	SNV Germline	Chr11:64751923	Pathogenic/Likely pathogenic	Condition: not provided Inborn genetic diseases Glycogen storage disease, type V	Criteria Provided Multiple Submitters No Conflicts	CA275011	rs_771427957	11 SubmittersRCV000423322 RCV000624349 RCV000763265
NM_002863.5(PYGL):c.1947C>A (p.Tyr649Ter)	SNV Germline	Chr14:50911752	Pathogenic/Likely pathogenic	Condition: not provided Glycogen storage disease, type VI	Criteria Provided Multiple Submitters No Conflicts	CA275031	rs_150547274	3 SubmittersRCV000175037 RCV002516658
NM_005609.4(PYGM):c.2024C>T (p.Ser675Leu)	SNV Germline	Chr11:64750529	Conflicting classifications of pathogenicity	Condition: not provided Glycogen storage disease, type V	Criteria Provided Conflicting Classifications	CA240894	rs_794727189	3 SubmittersRCV000175191 RCV002516665
NM_005609.4(PYGM):c.660G>A (p.Gln220=)	SNV Germline	Chr11:64757779	Conflicting classifications of pathogenicity	not specified Glycogen storage disease, type V Condition: not provided Tip-toe gait	Criteria Provided Conflicting Classifications	CA246105	rs_142234258	17 SubmittersRCV000242887 RCV000374157 RCV000656957 RCV001813765
NM_005609.4(PYGM):c.924C>T (p.Ile308=)	SNV Germline	Chr11:64754768	Conflicting classifications of pathogenicity	not specified Glycogen storage disease, type V Condition: not provided	Criteria Provided Conflicting Classifications	CA247669	rs_139726186	8 SubmittersRCV000252449 RCV000275037 RCV000724693
NM_005609.4(PYGM):c.1094C>T (p.Ala365Val)	SNV Germline	Chr11:64754024	Conflicting classifications of pathogenicity	Glycogen storage disease, type V Condition: not provided Tip-toe gait	Criteria Provided Conflicting Classifications	CA275527	rs_116135678	15 SubmittersRCV000185576 RCV000723508 RCV001822854
NM_005609.4(PYGM):c.1870G>A (p.Val624Ile)	SNV Germline	Chr11:64751424	Conflicting classifications of pathogenicity	not specified Glycogen storage disease, type V Condition: not provided	Criteria Provided Conflicting Classifications	CA6079690	rs_143217651	6 SubmittersRCV000245345 RCV000296404 RCV001722323
NM_005609.4(PYGM):c.612C>T (p.Tyr204=)	SNV Germline	Chr11:64757827	Conflicting classifications of pathogenicity	not specified Glycogen storage disease, type V Condition: not provided	Criteria Provided Conflicting Classifications	CA6080191	rs_200467937	6 SubmittersRCV000247993 RCV000887073 RCV001705367
NM_005609.4(PYGM):c.540C>T (p.Ala180=)	SNV Germline	Chr11:64757899	Conflicting classifications of pathogenicity	not specified Glycogen storage disease, type V	Criteria Provided Conflicting Classifications	CA6080210	rs_148731983	3 SubmittersRCV000241581 RCV000882322
NM_002863.5(PYGL):c.1274G>A (p.Arg425His)	SNV Germline	Chr14:50915465	Conflicting classifications of pathogenicity	not specified Glycogen storage disease, type VI Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA7183503	rs_2228499	5 SubmittersRCV000245720 RCV001069939 RCV004021009 RCV004791374
NM_005609.4(PYGM):c.1924C>T (p.Arg642Cys)	SNV Germline	Chr11:64751370	Conflicting classifications of pathogenicity	not specified Condition: not provided Glycogen storage disease, type V Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA6079674	rs_116180923	7 SubmittersRCV000319373 RCV000657929 RCV001088058 RCV002519079
NM_005609.4(PYGM):c.1160G>A (p.Arg387His)	SNV Germline	Chr11:64753958	Conflicting classifications of pathogenicity	Condition: not provided Glycogen storage disease, type V	Criteria Provided Conflicting Classifications	CA6079984	rs_200357590	3 SubmittersRCV000368305 RCV001086488
NM_005609.4(PYGM):c.1143G>A (p.Leu381=)	SNV Germline	Chr11:64753975	Conflicting classifications of pathogenicity	Condition: not provided Glycogen storage disease, type V	Criteria Provided Conflicting Classifications	CA6079987	rs_143401208	3 SubmittersRCV000349885 RCV001088703
NM_005609.4(PYGM):c.352C>T (p.Leu118=)	SNV Germline	Chr11:64758509	Conflicting classifications of pathogenicity	Condition: not provided Glycogen storage disease, type V	Criteria Provided Conflicting Classifications	CA6080275	rs_770341565	2 SubmittersRCV000374564 RCV002519119
NM_005609.4(PYGM):c.1349C>T (p.Ser450Leu)	SNV Germline	Chr11:64753573	Conflicting classifications of pathogenicity	Condition: not provided Glycogen storage disease, type V not specified	Criteria Provided Conflicting Classifications	CA6079907	rs_756251887	6 SubmittersRCV000338366 RCV000671505 RCV001778878
NM_005609.4(PYGM):c.1083C>T (p.Asp361=)	SNV Germline	Chr11:64754262	Conflicting classifications of pathogenicity	Glycogen storage disease, type V not specified Condition: not provided PYGM-related disorder	Criteria Provided Conflicting Classifications	CA6080018	rs_141959242	6 SubmittersRCV000310215 RCV000407094 RCV000725611 RCV003920093
NM_005609.4(PYGM):c.1787A>G (p.Asn596Ser)	SNV Germline	Chr11:64751637	Conflicting classifications of pathogenicity	Condition: not provided Glycogen storage disease, type V	Criteria Provided Conflicting Classifications	CA6079735	rs_150622626	7 SubmittersRCV000675629 RCV001103026
NM_005609.4(PYGM):c.2268C>T (p.Pro756=)	SNV Germline	Chr11:64747268	Conflicting classifications of pathogenicity	Glycogen storage disease, type V Condition: not provided PYGM-related disorder	Criteria Provided Conflicting Classifications	CA6079587	rs_144229867	5 SubmittersRCV000331663 RCV001705453 RCV003940158
NM_005609.4(PYGM):c.537G>A (p.Glu179=)	SNV Germline	Chr11:64757902	Conflicting classifications of pathogenicity	Glycogen storage disease, type V	Criteria Provided Conflicting Classifications	CA10631141	rs_886048462	2 SubmittersRCV000285461
NM_002863.5(PYGL):c.691G>A (p.Val231Met)	SNV Germline	Chr14:50921037	Conflicting classifications of pathogenicity	Glycogen storage disease, type VI Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7183708	rs_148378112	3 SubmittersRCV000361092 RCV002522303
NM_002863.5(PYGL):c.611A>G (p.Tyr204Cys)	SNV Germline	Chr14:50924018	Conflicting classifications of pathogenicity	Glycogen storage disease, type VI Condition: not provided not specified PYGL-related disorder	Criteria Provided Conflicting Classifications	CA7183751	rs_34096980	7 SubmittersRCV000325829 RCV000761876 RCV000595200 RCV003910177
NM_002863.5(PYGL):c.603G>T (p.Val201=)	SNV Germline	Chr14:50924026	Conflicting classifications of pathogenicity	Glycogen storage disease, type VI Condition: not provided PYGL-related disorder	Criteria Provided Conflicting Classifications	CA7183753	rs_138364932	4 SubmittersRCV000364145 RCV003311750 RCV003940215
NM_005609.4(PYGM):c.1239+8C>T	SNV Germline	Chr11:64753871	Conflicting classifications of pathogenicity	Glycogen storage disease, type V	Criteria Provided Conflicting Classifications	CA10635243	rs_886048461	3 SubmittersRCV000341998
NM_005609.4(PYGM):c.1011G>A (p.Gln337=)	SNV Germline	Chr11:64754334	Conflicting classifications of pathogenicity	Glycogen storage disease, type V	Criteria Provided Conflicting Classifications	CA6080030	rs_767039732	2 SubmittersRCV000367183
NM_000289.6(PFKM):c.638+15C>A	SNV Germline	Chr12:48134291	Conflicting classifications of pathogenicity	Glycogen storage disease, type VII not specified	Criteria Provided Conflicting Classifications	CA6537060	rs_376150217	3 SubmittersRCV000295502 RCV000436568
NM_000289.6(PFKM):c.1242C>G (p.Gly414=)	SNV Germline	Chr12:48140772	Conflicting classifications of pathogenicity	Glycogen storage disease, type VII	Criteria Provided Conflicting Classifications	CA10637570	rs_886049454	2 SubmittersRCV000364433
NM_005609.4(PYGM):c.2412G>A (p.Arg804=)	SNV Germline	Chr11:64746776	Conflicting classifications of pathogenicity	Glycogen storage disease, type V	Criteria Provided Conflicting Classifications	CA6079514	rs_199927544	3 SubmittersRCV000303890
NM_005609.4(PYGM):c.2177+7G>A	SNV Germline	Chr11:64750369	Conflicting classifications of pathogenicity	Glycogen storage disease, type V not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA6079623	rs_201366697	6 SubmittersRCV000388531 RCV000604465 RCV003221900
NM_005609.4(PYGM):c.877C>T (p.Arg293Trp)	SNV Germline	Chr11:64754815	Conflicting classifications of pathogenicity	Glycogen storage disease, type V Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA6080079	rs_558267822	6 SubmittersRCV000313797 RCV000522784 RCV002229955
NM_005609.4(PYGM):c.330C>T (p.Asp110=)	SNV Germline	Chr11:64758618	Conflicting classifications of pathogenicity	Glycogen storage disease, type V not specified Condition: not provided PYGM-related disorder	Criteria Provided Conflicting Classifications	CA6080309	rs_114742918	8 SubmittersRCV000344345 RCV000443441 RCV000509222 RCV003957578
NM_005609.4(PYGM):c.256C>T (p.Leu86=)	SNV Germline	Chr11:64758692	Conflicting classifications of pathogenicity	Glycogen storage disease, type V	Criteria Provided Conflicting Classifications	CA6080317	rs_541817643	2 SubmittersRCV000382595
NM_005609.4(PYGM):c.2290A>G (p.Asn764Asp)	SNV Germline	Chr11:64747246	Conflicting classifications of pathogenicity	Glycogen storage disease, type V Condition: not provided	Criteria Provided Conflicting Classifications	CA6079579	rs_190548494	6 SubmittersRCV000274335 RCV001551241
NM_005609.4(PYGM):c.1266C>T (p.Asp422=)	SNV Germline	Chr11:64753656	Conflicting classifications of pathogenicity	Glycogen storage disease, type V	Criteria Provided Conflicting Classifications	CA6079933	rs_769602726	2 SubmittersRCV000338371
NM_005609.4(PYGM):c.1239+12G>A	SNV Germline	Chr11:64753867	Conflicting classifications of pathogenicity	Glycogen storage disease, type V	Criteria Provided Conflicting Classifications	CA6079959	rs_760471706	2 SubmittersRCV000284704
NM_005609.4(PYGM):c.606C>T (p.His202=)	SNV Germline	Chr11:64757833	Conflicting classifications of pathogenicity	Glycogen storage disease, type V	Criteria Provided Conflicting Classifications	CA6080193	rs_79860859	3 SubmittersRCV000263138
NM_002863.5(PYGL):c.1920G>A (p.Lys640=)	SNV Germline	Chr14:50911779	Conflicting classifications of pathogenicity	Glycogen storage disease, type VI Condition: not provided	Criteria Provided Conflicting Classifications	CA7183290	rs_140296036	3 SubmittersRCV000379057 RCV003391122
NM_002863.5(PYGL):c.1884A>G (p.Ala628=)	SNV Germline	Chr14:50911815	Conflicting classifications of pathogenicity	Glycogen storage disease, type VI	Criteria Provided Conflicting Classifications	CA7183297	rs_374560108	2 SubmittersRCV000289301
NM_002863.5(PYGL):c.1757C>T (p.Thr586Met)	SNV Germline	Chr14:50912167	Conflicting classifications of pathogenicity	Glycogen storage disease, type VI Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA7183363	rs_144989341	4 SubmittersRCV000385175 RCV003165843 RCV004791404
NM_000289.6(PFKM):c.453G>A (p.Thr151=)	SNV Germline	Chr12:48133340	Conflicting classifications of pathogenicity	Glycogen storage disease, type VII not specified	Criteria Provided Conflicting Classifications	CA6537002	rs_144370737	5 SubmittersRCV000335148 RCV000437761
NM_000289.6(PFKM):c.1063-7C>T	SNV Germline	Chr12:48139278	Conflicting classifications of pathogenicity	Glycogen storage disease, type VII	Criteria Provided Conflicting Classifications	CA6537203	rs_776228408	2 SubmittersRCV000312118
NM_002863.5(PYGL):c.1519-15C>A	SNV Germline	Chr14:50913145	Conflicting classifications of pathogenicity	Glycogen storage disease, type VI	Criteria Provided Conflicting Classifications	CA7183442	rs_372886463	2 SubmittersRCV000391908
NM_005609.4(PYGM):c.2528G>T (p.Ter843Leu)	SNV Unknown	Chr11:64746660	Likely pathogenic	Glycogen storage disease, type V	Criteria Provided Single Submitter	CA16041492	rs_1057516529	1 SubmittersRCV000409749
NM_005609.4(PYGM):c.2352C>A (p.Cys784Ter)	SNV Germline	Chr11:64746948	Pathogenic/Likely pathogenic	Glycogen storage disease, type V Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA16041493	rs_1057517001	6 SubmittersRCV000409053 RCV001508669
NM_005609.4(PYGM):c.1970-1G>A	SNV Unknown	Chr11:64750584	Likely pathogenic	Glycogen storage disease, type V	Criteria Provided Single Submitter	CA16041496	rs_1057516598	1 SubmittersRCV000410171
NM_005609.4(PYGM):c.1969+1G>T	SNV Unknown	Chr11:64751324	Likely pathogenic	Glycogen storage disease, type V	Criteria Provided Single Submitter	CA16041497	rs_753181427	1 SubmittersRCV000411206
NM_005609.4(PYGM):c.1827+1G>C	SNV Germline	Chr11:64751596	Likely pathogenic	Glycogen storage disease, type V Tip-toe gait	Criteria Provided Multiple Submitters No Conflicts	CA16041498	rs_1057517442	3 SubmittersRCV000409723 RCV003319195
NM_005609.4(PYGM):c.1768+2T>G	SNV Germline	Chr11:64751922	Pathogenic/Likely pathogenic	Glycogen storage disease, type V	Criteria Provided Multiple Submitters No Conflicts	CA6079760	rs_747513238	4 SubmittersRCV000411312
NM_005609.4(PYGM):c.1717G>T (p.Glu573Ter)	SNV Germline	Chr11:64751975	Pathogenic/Likely pathogenic	Glycogen storage disease, type V	Criteria Provided Multiple Submitters No Conflicts	CA6079772	rs_752848974	3 SubmittersRCV000410338
NM_005609.4(PYGM):c.1092+1G>A	SNV Germline	Chr11:64754252	Likely pathogenic	Glycogen storage disease, type V	Criteria Provided Multiple Submitters No Conflicts	CA6080017	rs_749560316	4 SubmittersRCV000411263
NM_005609.4(PYGM):c.528+2T>G	SNV Germline	Chr11:64758244	Likely pathogenic	Glycogen storage disease, type V	Criteria Provided Multiple Submitters No Conflicts	CA16041501	rs_1057516468	3 SubmittersRCV000410907
NM_005609.4(PYGM):c.425-2A>G	SNV Germline	Chr11:64758351	Pathogenic/Likely pathogenic	Glycogen storage disease, type V	Criteria Provided Multiple Submitters No Conflicts	CA6080246	rs_752851284	4 SubmittersRCV000410172
NM_005609.4(PYGM):c.252C>G (p.Tyr84Ter)	SNV Germline	Chr11:64758696	Pathogenic/Likely pathogenic	Glycogen storage disease, type V	Criteria Provided Multiple Submitters No Conflicts	CA16041505	rs_1057517145	3 SubmittersRCV000412392
NM_005609.4(PYGM):c.217C>T (p.Gln73Ter)	SNV Unknown	Chr11:64759682	Likely pathogenic	Glycogen storage disease, type V	Criteria Provided Multiple Submitters No Conflicts	CA16041506	rs_1057517361	2 SubmittersRCV000409722
NM_005609.4(PYGM):c.204G>A (p.Trp68Ter)	SNV Germline	Chr11:64759695	Pathogenic/Likely pathogenic	Glycogen storage disease, type V	Criteria Provided Multiple Submitters No Conflicts	CA16041507	rs_1057516349	2 SubmittersRCV000411559
NM_005609.4(PYGM):c.2199C>T (p.Tyr733=)	SNV Germline	Chr11:64747337	Conflicting classifications of pathogenicity	not specified Condition: not provided Glycogen storage disease, type V	Criteria Provided Conflicting Classifications	CA6079602	rs_140102591	4 SubmittersRCV000418804 RCV000994652 RCV001108215
NM_005609.4(PYGM):c.1692C>T (p.Phe564=)	SNV Germline	Chr11:64752000	Conflicting classifications of pathogenicity	Glycogen storage disease, type V Condition: not provided PYGM-related disorder	Criteria Provided Conflicting Classifications	CA6079779	rs_116812032	6 SubmittersRCV000531995 RCV001720162 RCV003902525
NM_005609.4(PYGM):c.1465C>T (p.Pro489Ser)	SNV Germline	Chr11:64753126	Conflicting classifications of pathogenicity	Condition: not provided Glycogen storage disease, type V	Criteria Provided Conflicting Classifications	CA6079853	rs_752622662	3 SubmittersRCV000480329 RCV000675078
NM_000289.6(PFKM):c.115C>T (p.Arg39Ter)	SNV Germline	Chr12:48130392	Pathogenic/Likely pathogenic	Condition: not provided Glycogen storage disease, type VII	Criteria Provided Multiple Submitters No Conflicts	CA16619532	rs_1064795749	4 SubmittersRCV000485301 RCV001274001
NM_005609.4(PYGM):c.1970-2A>T	SNV Germline	Chr11:64750585	Pathogenic/Likely pathogenic	Condition: not provided Glycogen storage disease, type V	Criteria Provided Multiple Submitters No Conflicts	CA16621622	rs_1064797157	2 SubmittersRCV000488033 RCV001782972
NM_005609.4(PYGM):c.2312G>A (p.Arg771Gln)	SNV Germline	Chr11:64747224	Pathogenic/Likely pathogenic	Condition: not provided Glycogen storage disease, type V	Criteria Provided Multiple Submitters No Conflicts	CA6079570	rs_150911354	6 SubmittersRCV000493384 RCV000669086
NM_005609.4(PYGM):c.1147G>A (p.Glu383Lys)	SNV Germline	Chr11:64753971	Pathogenic/Likely pathogenic	Condition: not provided Glycogen storage disease, type V PYGM-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA6079985	rs_757681143	7 SubmittersRCV000494108 RCV001036939 RCV003409682
NM_005609.4(PYGM):c.1948C>T (p.Arg650Ter)	SNV Germline	Chr11:64751346	Pathogenic	Glycogen storage disease, type V See cases	Criteria Provided Multiple Submitters No Conflicts	CA6079669	rs_114073621	6 SubmittersRCV000498994 RCV003324712
NM_005609.4(PYGM):c.2178-1G>A	SNV Germline	Chr11:64747359	Pathogenic/Likely pathogenic	Condition: not provided Glycogen storage disease, type V	Criteria Provided Multiple Submitters No Conflicts	CA6079609	rs_143670942	5 SubmittersRCV000520606 RCV001783020
NM_005609.4(PYGM):c.1925G>A (p.Arg642His)	SNV Germline	Chr11:64751369	Conflicting classifications of pathogenicity	Condition: not provided Glycogen storage disease, type V Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA6079673	rs_150098198	5 SubmittersRCV000519020 RCV001271475 RCV002527593
NM_005609.4(PYGM):c.517G>A (p.Gly173Arg)	SNV Germline	Chr11:64758257	Conflicting classifications of pathogenicity	Condition: not provided Glycogen storage disease, type V EBV-positive nodal T- and NK-cell lymphoma	Criteria Provided Conflicting Classifications	CA6080233	rs_141265458	5 SubmittersRCV000523818 RCV000812757 RCV004559144
NM_005609.4(PYGM):c.280C>T (p.Arg94Trp)	SNV Germline	Chr11:64758668	Pathogenic	Glycogen storage disease, type V Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA6080314	rs_370247862	6 SubmittersRCV000557171 RCV001540069
NM_005609.4(PYGM):c.1888G>A (p.Val630Met)	SNV Germline	Chr11:64751406	Conflicting classifications of pathogenicity	not specified Condition: not provided Glycogen storage disease, type V Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA6079683	rs_115347245	7 SubmittersRCV000596502 RCV000837922 RCV001088368 RCV002532359
NM_002863.5(PYGL):c.697G>A (p.Gly233Ser)	SNV Germline	Chr14:50921031	Pathogenic/Likely pathogenic	Condition: not provided Glycogen storage disease, type VI	Criteria Provided Multiple Submitters No Conflicts	CA7183705	rs_749922511	4 SubmittersRCV000592955 RCV000989223
NM_005609.4(PYGM):c.661-9C>T	SNV Germline	Chr11:64755567	Conflicting classifications of pathogenicity	Condition: not provided Glycogen storage disease, type V	Criteria Provided Conflicting Classifications	CA6080166	rs_776779910	2 SubmittersRCV000595437 RCV001443981
NM_005609.4(PYGM):c.855+4C>T	SNV Germline	Chr11:64755269	Conflicting classifications of pathogenicity	Condition: not provided Glycogen storage disease, type V	Criteria Provided Conflicting Classifications	CA6080102	rs_199834605	2 SubmittersRCV001722626 RCV002529458
NM_000289.6(PFKM):c.1191+6G>T	SNV Germline	Chr12:48139918	Conflicting classifications of pathogenicity	not specified Glycogen storage disease, type VII	Criteria Provided Conflicting Classifications	CA6537258	rs_779486374	2 SubmittersRCV000611528 RCV002531708
NM_000289.6(PFKM):c.1412+6T>C	SNV Germline	Chr12:48141387	Conflicting classifications of pathogenicity	not specified Glycogen storage disease, type VII	Criteria Provided Conflicting Classifications	CA604848098	rs_1417385697	2 SubmittersRCV000611211 RCV002531639
NM_002863.5(PYGL):c.1145C>T (p.Pro382Leu)	SNV Germline	Chr14:50915919	Conflicting classifications of pathogenicity	Glycogen storage disease, type VI Condition: not provided not specified PYGL-related disorder	Criteria Provided Conflicting Classifications	CA7183547	rs_143759519	10 SubmittersRCV000625936 RCV003311865 RCV003488738 RCV003917992
NM_005609.4(PYGM):c.2392T>A (p.Trp798Arg)	SNV Germline	Chr11:64746796	Pathogenic	Glycogen storage disease, type V	Criteria Provided Multiple Submitters No Conflicts	CA6079524	rs_119103258	4 SubmittersRCV000631182
NM_005609.4(PYGM):c.1345G>A (p.Gly449Arg)	SNV Germline	Chr11:64753577	Pathogenic/Likely pathogenic	Condition: not provided Glycogen storage disease, type V	Criteria Provided Multiple Submitters No Conflicts		rs_769172044	4 SubmittersRCV000657906 RCV001275777
NM_005609.4(PYGM):c.2380-1G>A	SNV Germline	Chr11:64746809	Pathogenic/Likely pathogenic	Glycogen storage disease, type V Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_1555133248	4 SubmittersRCV000668975 RCV001766443
NM_005609.4(PYGM):c.1A>T (p.Met1Leu)	SNV Germline	Chr11:64759898	Pathogenic	Glycogen storage disease, type V	Criteria Provided Multiple Submitters No Conflicts		rs_267606993	2 SubmittersRCV000668678
NM_005609.4(PYGM):c.2143C>T (p.Arg715Trp)	SNV Germline	Chr11:64750410	Conflicting classifications of pathogenicity	Glycogen storage disease, type V Condition: not provided	Criteria Provided Conflicting Classifications		rs_780656375	6 SubmittersRCV000670902 RCV004812348
NM_005609.4(PYGM):c.1193C>T (p.Pro398Leu)	SNV Germline	Chr11:64753925	Conflicting classifications of pathogenicity	Glycogen storage disease, type V	Criteria Provided Conflicting Classifications		rs_773204705	5 SubmittersRCV000667688
NM_005609.4(PYGM):c.1093-1G>T	SNV Unknown	Chr11:64754026	Likely pathogenic	Glycogen storage disease, type V	Criteria Provided Single Submitter		rs_1163710370	1 SubmittersRCV000670071
NM_005609.4(PYGM):c.875T>C (p.Leu292Pro)	SNV Germline	Chr11:64754817	Conflicting classifications of pathogenicity	Glycogen storage disease, type V Condition: not provided	Criteria Provided Conflicting Classifications		rs_780375860	4 SubmittersRCV000666175 RCV002469240
NM_005609.4(PYGM):c.1129A>T (p.Asn377Tyr)	SNV Germline	Chr11:64753989	Conflicting classifications of pathogenicity	Glycogen storage disease, type V not specified	Criteria Provided Conflicting Classifications		rs_954192338	4 SubmittersRCV000672453 RCV004526749
NM_005609.4(PYGM):c.660+1G>A	SNV Germline	Chr11:64757778	Likely pathogenic	Glycogen storage disease, type V	Criteria Provided Multiple Submitters No Conflicts		rs_1555136208	3 SubmittersRCV000667359
NM_005609.4(PYGM):c.481C>T (p.Arg161Cys)	SNV Germline	Chr11:64758293	Conflicting classifications of pathogenicity	Glycogen storage disease, type V	Criteria Provided Conflicting Classifications		rs_200038732	4 SubmittersRCV000666983
NM_005609.4(PYGM):c.475G>A (p.Gly159Arg)	SNV Germline	Chr11:64758299	Conflicting classifications of pathogenicity	Glycogen storage disease, type V not specified	Criteria Provided Conflicting Classifications		rs_760654579	3 SubmittersRCV000671611 RCV002282315
NM_005609.4(PYGM):c.1151C>T (p.Ala384Val)	SNV Germline	Chr11:64753967	Conflicting classifications of pathogenicity	Glycogen storage disease, type V	Criteria Provided Conflicting Classifications		rs_1465752595	2 SubmittersRCV000671988
NM_005609.4(PYGM):c.415C>T (p.Arg139Trp)	SNV Germline	Chr11:64758446	Conflicting classifications of pathogenicity	Glycogen storage disease, type V	Criteria Provided Conflicting Classifications		rs_367990192	6 SubmittersRCV000671584
NM_005609.4(PYGM):c.370G>T (p.Glu124Ter)	SNV Unknown	Chr11:64758491	Likely pathogenic	Glycogen storage disease, type V	Criteria Provided Single Submitter		rs_1555136459	1 SubmittersRCV000668184
NM_005609.4(PYGM):c.347T>C (p.Leu116Pro)	SNV Germline	Chr11:64758514	Conflicting classifications of pathogenicity	Glycogen storage disease, type V	Criteria Provided Conflicting Classifications		rs_776680924	5 SubmittersRCV000666659
NM_000289.6(PFKM):c.1127G>A (p.Arg376Gln)	SNV Germline	Chr12:48139349	Pathogenic/Likely pathogenic	Glycogen storage disease, type VII	Criteria Provided Multiple Submitters No Conflicts		rs_187131358	4 SubmittersRCV000670080
NM_005609.4(PYGM):c.1239+1G>A	SNV Germline	Chr11:64753878	Pathogenic	Glycogen storage disease, type V	Criteria Provided Multiple Submitters No Conflicts		rs_759657964	3 SubmittersRCV000690159
NM_000289.6(PFKM):c.1191+1G>A	SNV Germline	Chr12:48139913	Likely pathogenic	Glycogen storage disease, type VII	Criteria Provided Multiple Submitters No Conflicts		rs_746348793	4 SubmittersRCV000696045
NM_005609.4(PYGM):c.856-2A>C	SNV Germline	Chr11:64754838	Likely pathogenic	Condition: not provided Glycogen storage disease, type V	Criteria Provided Single Submitter		rs_1565536363	2 SubmittersRCV000723129 RCV003768171
NM_005609.4(PYGM):c.1805G>A (p.Arg602Gln)	SNV Germline	Chr11:64751619	Pathogenic/Likely pathogenic	Condition: not provided Glycogen storage disease, type V Tip-toe gait PYGM-related disorder	Criteria Provided Multiple Submitters No Conflicts		rs_373190458	10 SubmittersRCV000727737 RCV000779073 RCV002221250 RCV003420284
NM_000289.6(PFKM):c.1413-2A>G	SNV Germline	Chr12:48141738	Pathogenic/Likely pathogenic	Condition: not provided Glycogen storage disease, type VII	Criteria Provided Multiple Submitters No Conflicts		rs_1430517061	3 SubmittersRCV000733881 RCV001065921
NM_005609.4(PYGM):c.403G>A (p.Gly135Arg)	SNV Germline	Chr11:64758458	Pathogenic/Likely pathogenic	Glycogen storage disease, type V	Criteria Provided Multiple Submitters No Conflicts		rs_780246932	3 SubmittersRCV000761339
NM_005609.4(PYGM):c.1723A>G (p.Lys575Glu)	SNV Germline	Chr11:64751969	Conflicting classifications of pathogenicity	Glycogen storage disease, type V	Criteria Provided Conflicting Classifications		rs_1315020035	2 SubmittersRCV000778335
NM_002863.5(PYGL):c.2467C>T (p.Gln823Ter)	SNV Germline	Chr14:50905469	Conflicting classifications of pathogenicity	Glycogen storage disease, type VI	Criteria Provided Conflicting Classifications		rs_756205397	2 SubmittersRCV000779138
NM_002863.5(PYGL):c.1729C>T (p.Gln577Ter)	SNV Germline	Chr14:50912195	Conflicting classifications of pathogenicity	Glycogen storage disease, type VI Condition: not provided	Criteria Provided Conflicting Classifications		rs_149096315	3 SubmittersRCV000779139 RCV001585707
NM_005609.4(PYGM):c.2083G>A (p.Gly695Arg)	SNV Germline	Chr11:64750470	Pathogenic	Glycogen storage disease, type V Glycogen storage disease	Criteria Provided Multiple Submitters No Conflicts		rs_768604948	4 SubmittersRCV000815465 RCV004017747
NM_005609.4(PYGM):c.1561A>T (p.Lys521Ter)	SNV Germline	Chr11:64752462	Pathogenic	Glycogen storage disease, type V	Criteria Provided Single Submitter		rs_1592410003	1 SubmittersRCV000805625
NM_002863.5(PYGL):c.2426C>T (p.Ser809Leu)	SNV Germline	Chr14:50905510	Pathogenic/Likely pathogenic	Glycogen storage disease, type VI	Criteria Provided Multiple Submitters No Conflicts		rs_760187622	2 SubmittersRCV000809511
NM_002863.5(PYGL):c.2071G>C (p.Gly691Arg)	SNV Germline	Chr14:50910001	Pathogenic/Likely pathogenic	Glycogen storage disease, type VI	Criteria Provided Multiple Submitters No Conflicts		rs_539898848	3 SubmittersRCV000811116
NM_005609.4(PYGM):c.1240-2A>G	SNV Germline	Chr11:64753684	Likely pathogenic	Glycogen storage disease, type V PYGM-related disorder	Criteria Provided Multiple Submitters No Conflicts		rs_1212333772	4 SubmittersRCV000815772 RCV004753050
NM_002863.5(PYGL):c.772+1G>A	SNV Germline	Chr14:50920955	Pathogenic/Likely pathogenic	Glycogen storage disease, type VI Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_776545903	2 SubmittersRCV000797589 RCV003332253
NM_005609.4(PYGM):c.2286T>G (p.Ile762Met)	SNV Germline	Chr11:64747250	Conflicting classifications of pathogenicity	Condition: not provided Glycogen storage disease, type V not specified	Criteria Provided Conflicting Classifications		rs_75685607	4 SubmittersRCV000828467 RCV001423332 RCV002298792
NM_005609.4(PYGM):c.1110G>A (p.Val370=)	SNV Germline	Chr11:64754008	Conflicting classifications of pathogenicity	Glycogen storage disease, type V	Criteria Provided Conflicting Classifications		rs_372719040	3 SubmittersRCV000892111
NM_000289.6(PFKM):c.41T>C (p.Ile14Thr)	SNV Germline	Chr12:48122815	Conflicting classifications of pathogenicity	Glycogen storage disease, type VII PFKM-related disorder Condition: not provided	Criteria Provided Conflicting Classifications		rs_140473672	5 SubmittersRCV000878987 RCV003948282 RCV004792567
NM_002863.5(PYGL):c.147C>T (p.Thr49=)	SNV Germline	Chr14:50944257	Conflicting classifications of pathogenicity	Condition: not provided Glycogen storage disease, type VI	Criteria Provided Conflicting Classifications		rs_139338050	3 SubmittersRCV000883353 RCV001113925
NM_005609.4(PYGM):c.2082C>T (p.Asp694=)	SNV Germline	Chr11:64750471	Conflicting classifications of pathogenicity	Glycogen storage disease, type V	Criteria Provided Conflicting Classifications		rs_773543072	2 SubmittersRCV001108216
NM_000289.6(PFKM):c.2121G>A (p.Ser707=)	SNV Germline	Chr12:48145238	Conflicting classifications of pathogenicity	Glycogen storage disease, type VII	Criteria Provided Conflicting Classifications		rs_370046842	2 SubmittersRCV000941174
NM_005609.4(PYGM):c.346-9C>T	SNV Germline	Chr11:64758524	Conflicting classifications of pathogenicity	Glycogen storage disease, type V	Criteria Provided Conflicting Classifications		rs_368998655	2 SubmittersRCV001103123
NM_002863.5(PYGL):c.1410G>C (p.Lys470Asn)	SNV Germline	Chr14:50914809	Conflicting classifications of pathogenicity	Glycogen storage disease, type VI Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_78433217	2 SubmittersRCV001392683 RCV004958351
NM_002863.5(PYGL):c.176C>A (p.Thr59Lys)	SNV Unknown	Chr14:50944228	Likely pathogenic	Glycogen storage disease, type VI	Criteria Provided Single Submitter		rs_150483902	1 SubmittersRCV000989224
NM_005609.4(PYGM):c.1708C>T (p.Arg570Trp)	SNV Germline	Chr11:64751984	Conflicting classifications of pathogenicity	Glycogen storage disease, type V not specified Condition: not provided Glycogen storage disease PYGM-related disorder	Criteria Provided Conflicting Classifications		rs_377225525	9 SubmittersRCV000995849 RCV003323777 RCV001823175 RCV004017771 RCV004753160
NM_005609.4(PYGM):c.1657G>T (p.Glu553Ter)	SNV Germline	Chr11:64752035	Pathogenic	Glycogen storage disease, type V	Criteria Provided Single Submitter		rs_1311913891	1 SubmittersRCV001063572
NM_005609.4(PYGM):c.1190T>C (p.Leu397Pro)	SNV Germline	Chr11:64753928	Pathogenic/Likely pathogenic	Glycogen storage disease, type V Condition: not provided Tip-toe gait	Criteria Provided Multiple Submitters No Conflicts		rs_1005687078	6 SubmittersRCV001062130 RCV001557247 RCV003319218
NM_000289.6(PFKM):c.292C>T (p.Arg98Ter)	SNV Germline	Chr12:48132922	Pathogenic	Glycogen storage disease, type VII	Criteria Provided Multiple Submitters No Conflicts		rs_138893744	3 SubmittersRCV001047427
NM_005609.4(PYGM):c.345+2T>A	SNV Germline	Chr11:64758601	Pathogenic/Likely pathogenic	Glycogen storage disease, type V	Criteria Provided Multiple Submitters No Conflicts		rs_1219299972	3 SubmittersRCV001051949
NM_005609.4(PYGM):c.528+1G>A	SNV Germline	Chr11:64758245	Likely pathogenic	Glycogen storage disease, type V	Criteria Provided Single Submitter		rs_1262967083	1 SubmittersRCV001041989
NM_005609.4(PYGM):c.1769-1G>A	SNV Germline	Chr11:64751656	Likely pathogenic	Glycogen storage disease, type V	Criteria Provided Single Submitter		rs_2058357329	1 SubmittersRCV001068083
NM_002863.5(PYGL):c.1620+1G>T	SNV Germline	Chr14:50913028	Pathogenic	Glycogen storage disease, type VI	Criteria Provided Single Submitter		rs_113993981	1 SubmittersRCV001053056
NM_005609.4(PYGM):c.2322C>T (p.Val774=)	SNV Germline	Chr11:64746978	Conflicting classifications of pathogenicity	Glycogen storage disease, type V PYGM-related disorder	Criteria Provided Conflicting Classifications		rs_1045215677	3 SubmittersRCV001105986 RCV003945813
NM_005609.4(PYGM):c.177C>T (p.Thr59=)	SNV Germline	Chr11:64759722	Conflicting classifications of pathogenicity	Glycogen storage disease, type V	Criteria Provided Conflicting Classifications		rs_753355735	2 SubmittersRCV001105034
NM_005609.4(PYGM):c.1769-7T>C	SNV Germline	Chr11:64751662	Conflicting classifications of pathogenicity	Glycogen storage disease, type V	Criteria Provided Conflicting Classifications		rs_2058357396	3 SubmittersRCV001103027
NM_005609.4(PYGM):c.1092+15C>T	SNV Germline	Chr11:64754238	Conflicting classifications of pathogenicity	Glycogen storage disease, type V	Criteria Provided Conflicting Classifications		rs_1319046232	2 SubmittersRCV001106095
NM_000289.6(PFKM):c.864A>G (p.Gly288=)	SNV Germline	Chr12:48135311	Conflicting classifications of pathogenicity	Glycogen storage disease, type VII	Criteria Provided Conflicting Classifications		rs_1313998695	2 SubmittersRCV001110465
NM_002863.5(PYGL):c.1617G>A (p.Lys539=)	SNV Germline	Chr14:50913032	Conflicting classifications of pathogenicity	Glycogen storage disease, type VI PYGL-related disorder	Criteria Provided Conflicting Classifications		rs_17721570	3 SubmittersRCV001113834 RCV003898106
NM_002863.5(PYGL):c.1768+10C>T	SNV Germline	Chr14:50912146	Conflicting classifications of pathogenicity	Glycogen storage disease, type VI	Criteria Provided Conflicting Classifications		rs_780893472	2 SubmittersRCV001112492
NM_002863.5(PYGL):c.2177+2T>C	SNV Unknown	Chr14:50909893	Likely pathogenic	Glycogen storage disease, type VI	Criteria Provided Single Submitter		rs_1368182301	1 SubmittersRCV001199242
NM_005609.4(PYGM):c.2199C>G (p.Tyr733Ter)	SNV Germline	Chr11:64747337	Pathogenic	Glycogen storage disease, type V	Criteria Provided Multiple Submitters No Conflicts		rs_140102591	2 SubmittersRCV001211508
NM_005609.4(PYGM):c.2111C>T (p.Ala704Val)	SNV Germline	Chr11:64750442	Pathogenic/Likely pathogenic	Glycogen storage disease, type V	Criteria Provided Multiple Submitters No Conflicts		rs_1483102315	2 SubmittersRCV001204475
NM_005609.4(PYGM):c.1760T>C (p.Leu587Pro)	SNV Germline	Chr11:64751932	Pathogenic/Likely pathogenic	Glycogen storage disease, type V	Criteria Provided Multiple Submitters No Conflicts		rs_761438921	3 SubmittersRCV001202839
NM_005609.4(PYGM):c.107T>G (p.Leu36Arg)	SNV Germline	Chr11:64759792	Conflicting classifications of pathogenicity	Glycogen storage disease, type V	Criteria Provided Conflicting Classifications		rs_1394188143	3 SubmittersRCV001205755
NM_002863.5(PYGL):c.1334T>C (p.Leu445Pro)	SNV Germline	Chr14:50915405	Likely pathogenic	Glycogen storage disease, type VI	Criteria Provided Multiple Submitters No Conflicts		rs_2050437440	2 SubmittersRCV001211148
NM_000289.6(PFKM):c.936+1G>A	SNV Germline	Chr12:48135384	Likely pathogenic	Glycogen storage disease, type VII	Criteria Provided Single Submitter		rs_1949974650	1 SubmittersRCV001215639
NM_000289.6(PFKM):c.1500+1G>A	SNV Germline	Chr12:48141828	Pathogenic/Likely pathogenic	Glycogen storage disease, type VII	Criteria Provided Multiple Submitters No Conflicts		rs_770066278	4 SubmittersRCV001215088
NM_002863.5(PYGL):c.1831G>A (p.Ala611Thr)	SNV Germline	Chr14:50911868	Likely pathogenic	Glycogen storage disease, type VI	Criteria Provided Single Submitter		rs_767847163	1 SubmittersRCV001231964
NM_005609.4(PYGM):c.580C>T (p.Arg194Trp)	SNV Germline	Chr11:64757859	Conflicting classifications of pathogenicity	Glycogen storage disease, type V Condition: not provided	Criteria Provided Conflicting Classifications		rs_376581557	4 SubmittersRCV001239256 RCV001751473
NM_005609.4(PYGM):c.2T>C (p.Met1Thr)	SNV Germline	Chr11:64759897	Likely pathogenic	Glycogen storage disease, type V	Criteria Provided Single Submitter		rs_2058423391	2 SubmittersRCV001244574
NM_005609.4(PYGM):c.2082C>A (p.Asp694Glu)	SNV Germline	Chr11:64750471	Likely pathogenic	Glycogen storage disease, type V	Criteria Provided Single Submitter		rs_773543072	1 SubmittersRCV001267843
NM_005609.4(PYGM):c.2182A>G (p.Asn728Asp)	SNV Germline	Chr11:64747354	Conflicting classifications of pathogenicity	Glycogen storage disease, type V Condition: not provided	Criteria Provided Conflicting Classifications		rs_200058475	4 SubmittersRCV001280465 RCV003883598
NM_005609.4(PYGM):c.1403+5G>A	SNV Germline	Chr11:64753514	Conflicting classifications of pathogenicity	Glycogen storage disease, type V Condition: not provided	Criteria Provided Conflicting Classifications		rs_373040789	4 SubmittersRCV001280472 RCV001571343
NM_005609.4(PYGM):c.661-599G>T	SNV Germline	Chr11:64756157	Conflicting classifications of pathogenicity	Glycogen storage disease, type V PYGM-related disorder	No Assertion Criteria Provided		rs_963364351	2 SubmittersRCV001277991 RCV003945957
NM_000289.6(PFKM):c.1063-6C>A	SNV Germline	Chr12:48139279	Conflicting classifications of pathogenicity	Glycogen storage disease, type VII	Criteria Provided Conflicting Classifications		rs_371033104	3 SubmittersRCV001286776
NM_002863.5(PYGL):c.1620+1G>C	SNV Germline	Chr14:50913028	Pathogenic	Glycogen storage disease, type VI	Criteria Provided Multiple Submitters No Conflicts		rs_113993981	4 SubmittersRCV001293797
NM_002863.5(PYGL):c.72C>A (p.Asn24Lys)	SNV Germline	Chr14:50944332	Pathogenic	Glycogen storage disease, type VI	Criteria Provided Single Submitter		rs_1375868904	1 SubmittersRCV001293798
NM_002863.5(PYGL):c.528+2T>C	SNV Unknown	Chr14:50931671	Pathogenic	Glycogen storage disease, type VI	Criteria Provided Single Submitter		rs_1243388778	1 SubmittersRCV001330995
NM_005609.4(PYGM):c.1092+1G>C	SNV Germline	Chr11:64754252	Likely pathogenic	Glycogen storage disease, type V	Criteria Provided Single Submitter		rs_749560316	1 SubmittersRCV001379674
NM_005609.4(PYGM):c.855+1G>A	SNV Germline	Chr11:64755272	Likely pathogenic	Glycogen storage disease, type V	Criteria Provided Single Submitter		rs_2135836123	2 SubmittersRCV001376828
NM_005609.4(PYGM):c.773-1G>C	SNV Germline	Chr11:64755356	Likely pathogenic	Glycogen storage disease, type V	Criteria Provided Single Submitter		rs_2135836264	1 SubmittersRCV001378761
NM_005609.4(PYGM):c.244-1G>A	SNV Germline	Chr11:64758705	Likely pathogenic	Glycogen storage disease, type V	Criteria Provided Single Submitter		rs_2135840980	1 SubmittersRCV001379809
NM_000289.6(PFKM):c.159+1G>T	SNV Germline	Chr12:48130437	Likely pathogenic	Glycogen storage disease, type VII	Criteria Provided Multiple Submitters No Conflicts		rs_1305706304	4 SubmittersRCV001378843
NM_000289.6(PFKM):c.1127+1G>T	SNV Germline	Chr12:48139350	Likely pathogenic	Glycogen storage disease, type VII	Criteria Provided Single Submitter		rs_2135976459	1 SubmittersRCV001379631
NM_005609.4(PYGM):c.1403+1G>A	SNV Germline	Chr11:64753518	Pathogenic	Glycogen storage disease, type V	Criteria Provided Multiple Submitters No Conflicts		rs_1191939323	4 SubmittersRCV001382415
NM_005609.4(PYGM):c.1119T>A (p.Cys373Ter)	SNV Germline	Chr11:64753999	Pathogenic/Likely pathogenic	Glycogen storage disease, type V	Criteria Provided Multiple Submitters No Conflicts		rs_2058377004	2 SubmittersRCV001381049
NM_005609.4(PYGM):c.681C>A (p.Tyr227Ter)	SNV Germline	Chr11:64755538	Pathogenic	Glycogen storage disease, type V	Criteria Provided Single Submitter		rs_377503100	1 SubmittersRCV001386380
NM_005609.4(PYGM):c.225C>A (p.Tyr75Ter)	SNV Germline	Chr11:64759674	Pathogenic	Glycogen storage disease, type V	Criteria Provided Multiple Submitters No Conflicts		rs_773361937	3 SubmittersRCV001382416
NM_000289.6(PFKM):c.165T>A (p.Tyr55Ter)	SNV Germline	Chr12:48131321	Pathogenic	Glycogen storage disease, type VII	Criteria Provided Single Submitter		rs_2135856711	1 SubmittersRCV001387775
NM_000289.6(PFKM):c.298C>T (p.Arg100Ter)	SNV Germline	Chr12:48132928	Pathogenic/Likely pathogenic	Glycogen storage disease, type VII	Criteria Provided Multiple Submitters No Conflicts		rs_374547385	2 SubmittersRCV001385034
NM_000289.6(PFKM):c.1413-64A>G	SNV Germline	Chr12:48141676	Pathogenic/Likely pathogenic	Glycogen storage disease, type VII	Criteria Provided Multiple Submitters No Conflicts		rs_1202417178	2 SubmittersRCV001387777
NM_002863.5(PYGL):c.1726C>T (p.Arg576Ter)	SNV Germline	Chr14:50912198	Pathogenic	Glycogen storage disease, type VI	Criteria Provided Single Submitter		rs_774646420	1 SubmittersRCV001390321
NM_002863.5(PYGL):c.1981A>G (p.Thr661Ala)	SNV Germline	Chr14:50910091	Conflicting classifications of pathogenicity	Glycogen storage disease, type VI Condition: not provided PYGL-related disorder	Criteria Provided Conflicting Classifications		rs_142483613	3 SubmittersRCV001427807 RCV002261362 RCV004753319
NM_005609.4(PYGM):c.1881C>T (p.Ile627=)	SNV Germline	Chr11:64751413	Conflicting classifications of pathogenicity	Glycogen storage disease, type V PYGM-related disorder	Criteria Provided Conflicting Classifications		rs_369361532	3 SubmittersRCV001459982 RCV003938822
NM_005609.4(PYGM):c.110A>G (p.His37Arg)	SNV Germline	Chr11:64759789	Likely pathogenic	Glycogen storage disease, type V	No Assertion Criteria Provided		rs_1170598133	1 SubmittersRCV001542478
NM_000289.6(PFKM):c.639-10C>G	SNV Germline	Chr12:48134711	Conflicting classifications of pathogenicity	Condition: not provided Glycogen storage disease, type VII	Criteria Provided Conflicting Classifications		rs_2135915213	2 SubmittersRCV001761278 RCV003600417
NM_005609.4(PYGM):c.1774A>T (p.Lys592Ter)	SNV Germline	Chr11:64751650	Pathogenic	Glycogen storage disease, type V	Criteria Provided Single Submitter		rs_2135830163	1 SubmittersRCV001784893
NM_005609.4(PYGM):c.1239+1G>T	SNV Germline	Chr11:64753878	Likely pathogenic	Glycogen storage disease, type V	Criteria Provided Single Submitter		rs_759657964	1 SubmittersRCV001783654
NM_005609.4(PYGM):c.1620+1G>A	SNV Germline	Chr11:64752402	Likely pathogenic	Glycogen storage disease, type V	Criteria Provided Multiple Submitters No Conflicts		rs_1256894448	2 SubmittersRCV001783655
NM_005609.4(PYGM):c.1709G>A (p.Arg570Gln)	SNV Germline	Chr11:64751983	Pathogenic/Likely pathogenic	Glycogen storage disease, type V	Criteria Provided Multiple Submitters No Conflicts		rs_143550601	2 SubmittersRCV002046146
NM_005609.4(PYGM):c.1009C>T (p.Gln337Ter)	SNV Germline	Chr11:64754336	Pathogenic	Glycogen storage disease, type V	Criteria Provided Single Submitter		rs_2135834746	1 SubmittersRCV001941724
NM_005609.4(PYGM):c.1828-2A>G	SNV Germline	Chr11:64751468	Likely pathogenic	Glycogen storage disease, type V	Criteria Provided Single Submitter		rs_2135829883	1 SubmittersRCV001963967
NM_005609.4(PYGM):c.1519-1G>A	SNV Germline	Chr11:64752505	Likely pathogenic	Glycogen storage disease, type V	Criteria Provided Single Submitter		rs_2135831491	1 SubmittersRCV002019558
NM_002863.5(PYGL):c.743G>A (p.Arg248Gln)	SNV Germline	Chr14:50920985	Conflicting classifications of pathogenicity	Glycogen storage disease, type VI Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_776101957	2 SubmittersRCV001943603 RCV004044075
NM_005609.4(PYGM):c.734G>A (p.Trp245Ter)	SNV Germline	Chr11:64755485	Pathogenic	Glycogen storage disease, type V	Criteria Provided Single Submitter		rs_2135836483	1 SubmittersRCV001993352
NM_000289.6(PFKM):c.237+1G>C	SNV Germline	Chr12:48131394	Pathogenic	Glycogen storage disease, type VII	Criteria Provided Single Submitter		rs_202143236	1 SubmittersRCV002002423
NM_005609.4(PYGM):c.569G>A (p.Trp190Ter)	SNV Germline	Chr11:64757870	Pathogenic	Glycogen storage disease, type V	Criteria Provided Single Submitter		rs_2135839308	1 SubmittersRCV002002518
NM_005609.4(PYGM):c.2177+1G>A	SNV Germline	Chr11:64750375	Likely pathogenic	Glycogen storage disease, type V	Criteria Provided Multiple Submitters No Conflicts		rs_751875471	3 SubmittersRCV001968726
NM_000289.6(PFKM):c.1294C>T (p.Arg432Ter)	SNV Germline	Chr12:48140824	Pathogenic/Likely pathogenic	Glycogen storage disease, type VII	Criteria Provided Multiple Submitters No Conflicts		rs_41291965	2 SubmittersRCV001906465
NM_000289.6(PFKM):c.736C>T (p.Arg246Ter)	SNV Germline	Chr12:48134818	Pathogenic/Likely pathogenic	Glycogen storage disease, type VII	Criteria Provided Multiple Submitters No Conflicts		rs_866904446	2 SubmittersRCV001939132
NM_005609.4(PYGM):c.549G>A (p.Trp183Ter)	SNV Germline	Chr11:64757890	Pathogenic/Likely pathogenic	Glycogen storage disease, type V	Criteria Provided Multiple Submitters No Conflicts		rs_1223885403	3 SubmittersRCV001937863
NM_000289.6(PFKM):c.1062+2T>C	SNV Germline	Chr12:48137848	Likely pathogenic	Glycogen storage disease, type VII	Criteria Provided Single Submitter		rs_2135957798	1 SubmittersRCV001983899
NM_005609.4(PYGM):c.1804C>T (p.Arg602Trp)	SNV Germline	Chr11:64751620	Pathogenic/Likely pathogenic	Glycogen storage disease, type V Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_750195683	4 SubmittersRCV003089156 RCV004700693
NM_002863.5(PYGL):c.1404-1G>A	SNV Germline	Chr14:50914816	Pathogenic	Glycogen storage disease, type VI	Criteria Provided Single Submitter		rs_750567664	1 SubmittersRCV002250285
NM_005609.4(PYGM):c.1363G>A (p.Gly455Ser)	SNV Germline	Chr11:64753559	Conflicting classifications of pathogenicity	Condition: not provided Glycogen storage disease, type V	Criteria Provided Conflicting Classifications		rs_201042910	3 SubmittersRCV002251610 RCV003094092
NM_000289.6(PFKM):c.867T>A (p.Tyr289Ter)	SNV Unknown	Chr12:48135314	Likely pathogenic	Glycogen storage disease, type VII	Criteria Provided Single Submitter			1 SubmittersRCV002306819
NM_000289.6(PFKM):c.1459A>T (p.Lys487Ter)	SNV Unknown	Chr12:48141786	Likely pathogenic	Glycogen storage disease, type VII	Criteria Provided Single Submitter			1 SubmittersRCV002309600
NM_000289.6(PFKM):c.1358G>A (p.Trp453Ter)	SNV Unknown	Chr12:48141327	Likely pathogenic	Glycogen storage disease, type VII	Criteria Provided Single Submitter			1 SubmittersRCV002309642
NM_000289.6(PFKM):c.1199C>A (p.Ser400Ter)	SNV Unknown	Chr12:48140729	Likely pathogenic	Glycogen storage disease, type VII	Criteria Provided Single Submitter			1 SubmittersRCV002308102
NM_000289.6(PFKM):c.1321G>T (p.Glu441Ter)	SNV Germline	Chr12:48140851	Pathogenic/Likely pathogenic	Glycogen storage disease, type VII	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV002309296
NM_000289.6(PFKM):c.1145G>A (p.Trp382Ter)	SNV Unknown	Chr12:48139866	Likely pathogenic	Glycogen storage disease, type VII	Criteria Provided Single Submitter			1 SubmittersRCV002306908
NM_000289.6(PFKM):c.184G>T (p.Gly62Ter)	SNV Unknown	Chr12:48131340	Likely pathogenic	Glycogen storage disease, type VII	Criteria Provided Single Submitter			1 SubmittersRCV002310337
NM_000289.6(PFKM):c.1905T>A (p.Tyr635Ter)	SNV Unknown	Chr12:48144070	Likely pathogenic	Glycogen storage disease, type VII	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV002310548
NM_002863.5(PYGL):c.1820G>T (p.Gly607Val)	SNV Germline	Chr14:50911985	Likely pathogenic	Glycogen storage disease, type VI	Criteria Provided Single Submitter			1 SubmittersRCV002444366
NM_002863.5(PYGL):c.2084G>A (p.Gly695Glu)	SNV Germline	Chr14:50909988	Likely pathogenic	Glycogen storage disease, type VI	Criteria Provided Single Submitter			1 SubmittersRCV002444368
NM_002863.5(PYGL):c.2483T>G (p.Val828Gly)	SNV Germline	Chr14:50905453	Likely pathogenic	Glycogen storage disease, type VI	Criteria Provided Single Submitter			1 SubmittersRCV002444369
NM_002863.5(PYGL):c.472T>C (p.Tyr158His)	SNV Germline	Chr14:50931729	Likely pathogenic	Glycogen storage disease, type VI	Criteria Provided Single Submitter			1 SubmittersRCV002444370
NM_000289.6(PFKM):c.116G>A (p.Arg39Gln)	SNV Germline	Chr12:48130393	Likely pathogenic	Glycogen storage disease, type VII Condition: not provided	Criteria Provided Multiple Submitters No Conflicts			3 SubmittersRCV003062509 RCV004790329
NM_005609.4(PYGM):c.2312+19G>A	SNV Germline	Chr11:64747205	Conflicting classifications of pathogenicity	Glycogen storage disease, type V not specified	Criteria Provided Conflicting Classifications			2 SubmittersRCV003051111 RCV003324067
NM_005609.4(PYGM):c.1769G>A (p.Arg590His)	SNV Germline	Chr11:64751655	Conflicting classifications of pathogenicity	Glycogen storage disease, type V	Criteria Provided Conflicting Classifications			2 SubmittersRCV003062396
NM_005609.4(PYGM):c.1469G>A (p.Arg490Gln)	SNV Germline	Chr11:64753122	Pathogenic	Glycogen storage disease, type V	Criteria Provided Single Submitter			1 SubmittersRCV003058322
NM_005609.4(PYGM):c.614G>A (p.Gly205Asp)	SNV Germline	Chr11:64757825	Conflicting classifications of pathogenicity	Glycogen storage disease, type V	Criteria Provided Conflicting Classifications			2 SubmittersRCV003062398
NM_000289.6(PFKM):c.1062+1G>A	SNV Germline	Chr12:48137847	Likely pathogenic	Glycogen storage disease, type VII	Criteria Provided Single Submitter			1 SubmittersRCV003077821
NM_000289.6(PFKM):c.1807C>T (p.Arg603Ter)	SNV Germline	Chr12:48142935	Pathogenic/Likely pathogenic	Glycogen storage disease, type VII	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV002633476
NM_000289.6(PFKM):c.1412+1G>T	SNV Germline	Chr12:48141382	Likely pathogenic	Glycogen storage disease, type VII	Criteria Provided Single Submitter			1 SubmittersRCV003115091
NM_005609.4(PYGM):c.403G>C (p.Gly135Arg)	SNV Germline	Chr11:64758458	Pathogenic	Glycogen storage disease, type V	Criteria Provided Single Submitter			1 SubmittersRCV002580223
NM_002863.5(PYGL):c.1475G>A (p.Trp492Ter)	SNV Germline	Chr14:50914744	Pathogenic	Glycogen storage disease, type VI	Criteria Provided Single Submitter			1 SubmittersRCV002657862
NM_005609.4(PYGM):c.772+1G>T	SNV Germline	Chr11:64755446	Pathogenic	Glycogen storage disease, type V	Criteria Provided Single Submitter			1 SubmittersRCV002705561
NM_005609.4(PYGM):c.1969+1G>A	SNV Germline	Chr11:64751324	Likely pathogenic	Glycogen storage disease, type V	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV002751300
NM_005609.4(PYGM):c.2216T>C (p.Leu739Pro)	SNV Germline	Chr11:64747320	Conflicting classifications of pathogenicity	Rhabdomyolysis Glycogen storage disease, type V Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_370144967	3 SubmittersRCV003409926 RCV002800114 RCV004958759
NM_002863.5(PYGL):c.647G>A (p.Trp216Ter)	SNV Germline	Chr14:50923982	Pathogenic	Glycogen storage disease, type VI	Criteria Provided Single Submitter			1 SubmittersRCV002805725
NM_002863.5(PYGL):c.514C>T (p.Arg172Ter)	SNV Germline	Chr14:50931687	Pathogenic	Glycogen storage disease, type VI	Criteria Provided Single Submitter			1 SubmittersRCV002790488
NM_000289.6(PFKM):c.1057C>T (p.Gln353Ter)	SNV Germline	Chr12:48137841	Pathogenic	Glycogen storage disease, type VII	Criteria Provided Single Submitter			1 SubmittersRCV002844028
NM_000289.6(PFKM):c.1192-2A>G	SNV Germline	Chr12:48140720	Likely pathogenic	Glycogen storage disease, type VII	Criteria Provided Single Submitter			1 SubmittersRCV002857659
NM_002863.5(PYGL):c.2197T>C (p.Tyr733His)	SNV Germline	Chr14:50908936	Conflicting classifications of pathogenicity	Glycogen storage disease, type VI	Criteria Provided Conflicting Classifications			2 SubmittersRCV002928340
NM_000289.6(PFKM):c.1341+1G>C	SNV Germline	Chr12:48140872	Likely pathogenic	Glycogen storage disease, type VII	Criteria Provided Single Submitter			1 SubmittersRCV002949644
NM_002863.5(PYGL):c.2062C>G (p.Leu688Val)	SNV Germline	Chr14:50910010	Conflicting classifications of pathogenicity	Glycogen storage disease, type VI Inborn genetic diseases	Criteria Provided Conflicting Classifications			2 SubmittersRCV002979561 RCV004065256
NM_005609.4(PYGM):c.1267G>A (p.Val423Ile)	SNV Germline	Chr11:64753655	Conflicting classifications of pathogenicity	Glycogen storage disease, type V	Criteria Provided Conflicting Classifications			2 SubmittersRCV002963093
NM_005609.4(PYGM):c.1970-2A>C	SNV Germline	Chr11:64750585	Likely pathogenic	Glycogen storage disease, type V	Criteria Provided Single Submitter			1 SubmittersRCV002988528
NM_000289.6(PFKM):c.936+2T>G	SNV Germline	Chr12:48135385	Likely pathogenic	Glycogen storage disease, type VII	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003045184
NM_005609.4(PYGM):c.228T>A (p.Tyr76Ter)	SNV Germline	Chr11:64759671	Pathogenic	Glycogen storage disease, type V	Criteria Provided Single Submitter			1 SubmittersRCV003045214
NM_005609.4(PYGM):c.648G>A (p.Trp216Ter)	SNV Germline	Chr11:64757791	Pathogenic	Glycogen storage disease, type V	Criteria Provided Single Submitter			1 SubmittersRCV003034713
NM_005609.4(PYGM):c.2380-2A>G	SNV Germline	Chr11:64746810	Likely pathogenic	Glycogen storage disease, type V	Criteria Provided Single Submitter			1 SubmittersRCV003049784
NM_002863.5(PYGL):c.361G>T (p.Glu121Ter)	SNV Germline	Chr14:50935170	Likely pathogenic	Glycogen storage disease, type VI	Criteria Provided Single Submitter			1 SubmittersRCV003133740
NM_000289.6(PFKM):c.238-3A>G	SNV Germline	Chr12:48132865	Likely pathogenic	Glycogen storage disease, type VII	Criteria Provided Multiple Submitters No Conflicts			4 SubmittersRCV003134804
NM_005609.4(PYGM):c.247A>T (p.Ile83Phe)	SNV Germline	Chr11:64758701	Conflicting classifications of pathogenicity	Glycogen storage disease, type V	Criteria Provided Conflicting Classifications			2 SubmittersRCV003130371
NM_002863.5(PYGL):c.916C>T (p.Gln306Ter)	SNV Germline	Chr14:50917045	Likely pathogenic	Glycogen storage disease, type VI	Criteria Provided Single Submitter			1 SubmittersRCV003340711
NM_002863.5(PYGL):c.528+1G>A	SNV Germline	Chr14:50931672	Pathogenic	Glycogen storage disease, type VI	Criteria Provided Single Submitter			1 SubmittersRCV003388773
NM_005609.4(PYGM):c.1468C>T (p.Arg490Trp)	SNV Germline	Chr11:64753123	Conflicting classifications of pathogenicity	PYGM-related disorder Glycogen storage disease, type V not specified	Criteria Provided Conflicting Classifications			4 SubmittersRCV003412504 RCV003459860 RCV004765835
NM_002863.5(PYGL):c.1722C>A (p.Tyr574Ter)	SNV Germline	Chr14:50912202	Likely pathogenic	Glycogen storage disease, type VI	Criteria Provided Single Submitter			1 SubmittersRCV003445311
NM_005609.4(PYGM):c.735G>A (p.Trp245Ter)	SNV Unknown	Chr11:64755484	Likely pathogenic	Glycogen storage disease, type V	Criteria Provided Single Submitter			1 SubmittersRCV003471758
NM_005609.4(PYGM):c.1045G>A (p.Glu349Lys)	SNV Germline	Chr11:64754300	Pathogenic	Glycogen storage disease, type V	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003463411
NM_005609.4(PYGM):c.2177+1G>T	SNV Germline	Chr11:64750375	Likely pathogenic	Glycogen storage disease, type V	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003463413
NM_005609.4(PYGM):c.1979C>A (p.Ala660Asp)	SNV Unknown	Chr11:64750574	Likely pathogenic	Glycogen storage disease, type V	Criteria Provided Single Submitter			1 SubmittersRCV003471759
NM_005609.4(PYGM):c.1828-1G>T	SNV Unknown	Chr11:64751467	Likely pathogenic	Glycogen storage disease, type V	Criteria Provided Single Submitter			1 SubmittersRCV003471760
NM_005609.4(PYGM):c.772+2T>A	SNV Unknown	Chr11:64755445	Likely pathogenic	Glycogen storage disease, type V	Criteria Provided Single Submitter			1 SubmittersRCV003463414
NM_005609.4(PYGM):c.1093-2A>T	SNV Unknown	Chr11:64754027	Likely pathogenic	Glycogen storage disease, type V	Criteria Provided Single Submitter			1 SubmittersRCV003463415
NM_005609.4(PYGM):c.1475G>A (p.Trp492Ter)	SNV Unknown	Chr11:64753116	Pathogenic	Glycogen storage disease, type V	Criteria Provided Single Submitter			1 SubmittersRCV003471761
NM_005609.4(PYGM):c.889G>T (p.Glu297Ter)	SNV Unknown	Chr11:64754803	Likely pathogenic	Glycogen storage disease, type V	Criteria Provided Single Submitter			1 SubmittersRCV003463416
NM_005609.4(PYGM):c.1969+1G>C	SNV Unknown	Chr11:64751324	Likely pathogenic	Glycogen storage disease, type V	Criteria Provided Single Submitter			1 SubmittersRCV003463419
NM_005609.4(PYGM):c.2313-1G>A	SNV Unknown	Chr11:64746988	Likely pathogenic	Glycogen storage disease, type V	Criteria Provided Single Submitter			1 SubmittersRCV003463423
NM_005609.4(PYGM):c.2379+1G>A	SNV Unknown	Chr11:64746920	Likely pathogenic	Glycogen storage disease, type V	Criteria Provided Single Submitter			1 SubmittersRCV003463425
NM_005609.4(PYGM):c.1010A>G (p.Gln337Arg)	SNV Germline	Chr11:64754335	Pathogenic	Glycogen storage disease, type V	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003471763
NM_005609.4(PYGM):c.505C>T (p.Gln169Ter)	SNV Germline	Chr11:64758269	Pathogenic	Glycogen storage disease, type V	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003463427
NM_005609.4(PYGM):c.999+1G>A	SNV Unknown	Chr11:64754692	Likely pathogenic	Glycogen storage disease, type V	Criteria Provided Single Submitter			1 SubmittersRCV003471765
NM_005609.4(PYGM):c.1828-1G>A	SNV Unknown	Chr11:64751467	Likely pathogenic	Glycogen storage disease, type V	Criteria Provided Single Submitter			1 SubmittersRCV003471766
NM_000289.6(PFKM):c.86-1G>C	SNV Unknown	Chr12:48130362	Likely pathogenic	Glycogen storage disease, type VII	Criteria Provided Single Submitter			1 SubmittersRCV003476869
NM_000289.6(PFKM):c.1341+1G>A	SNV Unknown	Chr12:48140872	Likely pathogenic	Glycogen storage disease, type VII	Criteria Provided Single Submitter			1 SubmittersRCV003476871
NM_000289.6(PFKM):c.160-1G>C	SNV Unknown	Chr12:48131315	Likely pathogenic	Glycogen storage disease, type VII	Criteria Provided Single Submitter			1 SubmittersRCV003472431
NM_000289.6(PFKM):c.-8-2A>G	SNV Unknown	Chr12:48122765	Likely pathogenic	Glycogen storage disease, type VII	Criteria Provided Single Submitter			1 SubmittersRCV003472432
NM_000289.6(PFKM):c.395G>A (p.Trp132Ter)	SNV Unknown	Chr12:48133025	Likely pathogenic	Glycogen storage disease, type VII	Criteria Provided Single Submitter			1 SubmittersRCV003472433
NM_000289.6(PFKM):c.811G>T (p.Gly271Ter)	SNV Unknown	Chr12:48135006	Likely pathogenic	Glycogen storage disease, type VII	Criteria Provided Single Submitter			1 SubmittersRCV003472435
NM_000289.6(PFKM):c.539C>G (p.Ser180Cys)	SNV Unknown	Chr12:48133426	Likely pathogenic	Glycogen storage disease, type VII	Criteria Provided Single Submitter			1 SubmittersRCV003472436
NM_000289.6(PFKM):c.1500+2T>A	SNV Unknown	Chr12:48141829	Likely pathogenic	Glycogen storage disease, type VII	Criteria Provided Single Submitter			1 SubmittersRCV003472437
NM_005609.4(PYGM):c.3G>A (p.Met1Ile)	SNV Germline	Chr11:64759896	Pathogenic	Glycogen storage disease, type V	Criteria Provided Single Submitter			1 SubmittersRCV003498270
NM_000289.6(PFKM):c.1426A>T (p.Lys476Ter)	SNV Germline	Chr12:48141753	Pathogenic	Glycogen storage disease, type VII	Criteria Provided Single Submitter			1 SubmittersRCV003496212
NM_005609.4(PYGM):c.424+1G>T	SNV Germline	Chr11:64758436	Likely pathogenic	Glycogen storage disease, type V	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003499518
NM_000289.6(PFKM):c.1772A>C (p.Asp591Ala)	SNV Germline	Chr12:48142900	Likely pathogenic	Glycogen storage disease, type VII	Criteria Provided Single Submitter			1 SubmittersRCV003494673
NM_005609.4(PYGM):c.1363G>C (p.Gly455Arg)	SNV Germline	Chr11:64753559	Likely pathogenic	Glycogen storage disease, type V	Criteria Provided Single Submitter			1 SubmittersRCV003499971
NM_005609.4(PYGM):c.470G>T (p.Gly157Val)	SNV Germline	Chr11:64758304	Likely pathogenic	Glycogen storage disease, type V	Criteria Provided Single Submitter			1 SubmittersRCV003499973
NM_005609.4(PYGM):c.424+1G>A	SNV Germline	Chr11:64758436	Likely pathogenic	Glycogen storage disease, type V	Criteria Provided Single Submitter			1 SubmittersRCV003498403
NM_002863.5(PYGL):c.1228A>T (p.Lys410Ter)	SNV Germline	Chr14:50915836	Pathogenic	Glycogen storage disease, type VI	Criteria Provided Single Submitter			1 SubmittersRCV003625259
NM_000289.6(PFKM):c.1653+2T>G	SNV Germline	Chr12:48142068	Likely pathogenic	Glycogen storage disease, type VII	Criteria Provided Single Submitter			1 SubmittersRCV003601518
NM_000289.6(PFKM):c.589C>T (p.Gln197Ter)	SNV Germline	Chr12:48133476	Pathogenic	Glycogen storage disease, type VII	Criteria Provided Single Submitter			1 SubmittersRCV003601741
NM_005609.4(PYGM):c.1469G>C (p.Arg490Pro)	SNV Germline	Chr11:64753122	Likely pathogenic	Glycogen storage disease, type V	Criteria Provided Single Submitter			1 SubmittersRCV003604307
NM_000289.6(PFKM):c.1342-1G>C	SNV Germline	Chr12:48141310	Likely pathogenic	Glycogen storage disease, type VII	Criteria Provided Single Submitter			1 SubmittersRCV003601670
NM_000289.6(PFKM):c.594-1G>A	SNV Germline	Chr12:48134231	Likely pathogenic	Glycogen storage disease, type VII	Criteria Provided Single Submitter			1 SubmittersRCV003602197
NM_005609.4(PYGM):c.1620+1G>T	SNV Germline	Chr11:64752402	Likely pathogenic	Glycogen storage disease, type V	Criteria Provided Single Submitter			1 SubmittersRCV003604446
NM_000289.6(PFKM):c.1992+1G>T	SNV Germline	Chr12:48144158	Likely pathogenic	Glycogen storage disease, type VII	Criteria Provided Single Submitter			1 SubmittersRCV003602342
NM_005609.4(PYGM):c.2057G>A (p.Gly686Glu)	SNV Germline	Chr11:64750496	Likely pathogenic	Glycogen storage disease, type V	Criteria Provided Single Submitter			1 SubmittersRCV003604849
NM_005609.4(PYGM):c.528+1G>T	SNV Germline	Chr11:64758245	Likely pathogenic	Glycogen storage disease, type V	Criteria Provided Single Submitter			1 SubmittersRCV003602547
NM_005609.4(PYGM):c.558C>G (p.Tyr186Ter)	SNV Germline	Chr11:64757881	Pathogenic	Glycogen storage disease, type V	Criteria Provided Single Submitter			1 SubmittersRCV003602569
NM_000289.6(PFKM):c.1128-2A>G	SNV Germline	Chr12:48139847	Likely pathogenic	Glycogen storage disease, type VII	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003600010
NM_000289.6(PFKM):c.638+1G>T	SNV Germline	Chr12:48134277	Likely pathogenic	Glycogen storage disease, type VII	Criteria Provided Single Submitter			1 SubmittersRCV003600192
NM_002863.5(PYGL):c.1970-7C>G	SNV Germline	Chr14:50910109	Conflicting classifications of pathogenicity	Glycogen storage disease, type VI	Criteria Provided Conflicting Classifications			2 SubmittersRCV003624160
NM_005609.4(PYGM):c.415C>G (p.Arg139Gly)	SNV Germline	Chr11:64758446	Likely pathogenic	Glycogen storage disease, type V	Criteria Provided Single Submitter			1 SubmittersRCV003602843
NM_000289.6(PFKM):c.2092+2T>C	SNV Germline	Chr12:48145132	Likely pathogenic	Glycogen storage disease, type VII	Criteria Provided Single Submitter			1 SubmittersRCV003600921
NM_005609.4(PYGM):c.658C>T (p.Gln220Ter)	SNV Germline	Chr11:64757781	Pathogenic/Likely pathogenic	Glycogen storage disease, type V	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003836283
NM_005609.4(PYGM):c.1996C>T (p.Gln666Ter)	SNV Germline	Chr11:64750557	Pathogenic	Glycogen storage disease, type V	Criteria Provided Single Submitter			1 SubmittersRCV003851037
NM_005609.4(PYGM):c.2083G>T (p.Gly695Trp)	SNV Germline	Chr11:64750470	Likely pathogenic	Glycogen storage disease, type V	Criteria Provided Single Submitter			1 SubmittersRCV003861695
NM_000289.6(PFKM):c.1412+2T>C	SNV Germline	Chr12:48141383	Likely pathogenic	Glycogen storage disease, type VII	Criteria Provided Single Submitter			1 SubmittersRCV003853737
NM_002863.5(PYGL):c.1240-2A>G	SNV Germline	Chr14:50915501	Likely pathogenic	Glycogen storage disease, type VI	Criteria Provided Single Submitter			1 SubmittersRCV003989191
NM_000289.6(PFKM):c.85+1G>A	SNV Unknown	Chr12:48122860	Likely pathogenic	Glycogen storage disease, type VII	Criteria Provided Single Submitter			1 SubmittersRCV004574526
NM_000289.6(PFKM):c.166C>T (p.Gln56Ter)	SNV Unknown	Chr12:48131322	Likely pathogenic	Glycogen storage disease, type VII	Criteria Provided Single Submitter			1 SubmittersRCV004574527
NM_005609.4(PYGM):c.1098G>A (p.Trp366Ter)	SNV Unknown	Chr11:64754020	Pathogenic	Glycogen storage disease, type V	Criteria Provided Single Submitter			1 SubmittersRCV004574655
NM_005609.4(PYGM):c.2181C>G (p.Tyr727Ter)	SNV Unknown	Chr11:64747355	Likely pathogenic	Glycogen storage disease, type V	Criteria Provided Single Submitter			1 SubmittersRCV004574657
NM_005609.4(PYGM):c.1093-1G>C	SNV Unknown	Chr11:64754026	Likely pathogenic	Glycogen storage disease, type V	Criteria Provided Single Submitter			1 SubmittersRCV004574662
NM_005609.4(PYGM):c.2356G>T (p.Glu786Ter)	SNV Unknown	Chr11:64746944	Likely pathogenic	Glycogen storage disease, type V	Criteria Provided Single Submitter			1 SubmittersRCV004574665
NM_005609.4(PYGM):c.613G>T (p.Gly205Cys)	SNV Germline	Chr11:64757826	Likely pathogenic	Glycogen storage disease, type V	Criteria Provided Single Submitter			1 SubmittersRCV004764489
NM_000289.6(PFKM):c.626G>A (p.Gly209Asp)	SNV Germline	Chr12:48134264	Likely pathogenic	Glycogen storage disease, type VII	Criteria Provided Single Submitter			1 SubmittersRCV004782090
NM_002863.5(PYGL):c.730C>T (p.Leu244Phe)	SNV Germline	Chr14:50920998	Pathogenic	Glycogen storage disease, type VI	Criteria Provided Single Submitter			1 SubmittersRCV004800850
NM_005609.4(PYGM):c.1519-3T>G	SNV Germline	Chr11:64752507	Likely pathogenic	Glycogen storage disease, type V	Criteria Provided Single Submitter			1 SubmittersRCV004810738

NM_000289.6(PFKM):c.1341+1G>T

SNV
Germline

Chr12:48140872

Pathogenic

Glycogen storage disease, type VII

No Assertion Criteria Provided

rs_755419857

1 SubmittersRCV000001211

NM_000289.6(PFKM):c.428-2A>C

SNV
Germline

Chr12:48133313

Pathogenic

Glycogen storage disease, type VII

No Assertion Criteria Provided

rs_895690691

1 SubmittersRCV000001212

NM_000289.6(PFKM):c.116G>C (p.Arg39Pro)

SNV
Germline

Chr12:48130393

Pathogenic/Likely pathogenic

Glycogen storage disease, type VII

Criteria Provided
Multiple Submitters
No Conflicts

CA114800

rs_121918193

4 SubmittersRCV000001213

NM_000289.6(PFKM):c.116G>T (p.Arg39Leu)

SNV
Germline

Chr12:48130393

Pathogenic

Glycogen storage disease, type VII

No Assertion Criteria Provided

CA114804

rs_121918193

1 SubmittersRCV000001216

NM_000289.6(PFKM):c.283C>T (p.Arg95Ter)

SNV
Germline

Chr12:48132913

Pathogenic/Likely pathogenic

Glycogen storage disease, type VII

Criteria Provided
Multiple Submitters
No Conflicts

CA114806

rs_121918195

4 SubmittersRCV000001217

NM_000289.6(PFKM):c.2058G>T (p.Trp686Cys)

SNV
Germline

Chr12:48145096

Pathogenic

Glycogen storage disease, type VII

No Assertion Criteria Provided

CA114809

rs_121918196

1 SubmittersRCV000001218

NM_005609.4(PYGM):c.148C>T (p.Arg50Ter)

SNV
Germline

Chr11:64759751

Pathogenic

Glycogen storage disease, type V
Condition: not provided
Inborn genetic diseases
See cases
Tip-toe gait

Criteria Provided
Multiple Submitters
No Conflicts

CA222884

rs_116987552

34 SubmittersRCV000002388 RCV000081306 RCV000622729 RCV002251857 RCV003319158

NM_005609.4(PYGM):c.613G>A (p.Gly205Ser)

SNV
Germline

Chr11:64757826

Pathogenic

Glycogen storage disease, type V
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA339962

rs_119103251

13 SubmittersRCV000002389 RCV000414632

NM_005609.4(PYGM):c.1628A>C (p.Lys543Thr)

SNV
Germline

Chr11:64752064

Pathogenic

Glycogen storage disease, type V

Criteria Provided
Single Submitter

CA339963

rs_119103252

3 SubmittersRCV000002390

NM_005609.4(PYGM):c.1963G>A (p.Glu655Lys)

SNV
Germline

Chr11:64751331

Likely pathogenic

Glycogen storage disease, type V

Criteria Provided
Multiple Submitters
No Conflicts

CA252200

rs_119103253

4 SubmittersRCV000002392

NM_005609.4(PYGM):c.1996C>G (p.Gln666Glu)

SNV
Germline

Chr11:64750557

Conflicting classifications of pathogenicity

Glycogen storage disease, type V
Condition: not provided

Criteria Provided
Conflicting Classifications

CA252201

rs_119103256

4 SubmittersRCV000002393 RCV003441700

NM_005609.4(PYGM):c.1187T>C (p.Leu396Pro)

SNV
Germline

Chr11:64753931

Pathogenic

Glycogen storage disease, type V

No Assertion Criteria Provided

CA252202

rs_119103254

1 SubmittersRCV000002394

NM_005609.4(PYGM):c.2056G>A (p.Gly686Arg)

SNV
Germline

Chr11:64750497

Pathogenic/Likely pathogenic

Glycogen storage disease, type V
Condition: not provided
PYGM-related disorder
Tip-toe gait

Criteria Provided
Multiple Submitters
No Conflicts

CA252204

rs_144081869

8 SubmittersRCV000002396 RCV001091628 RCV003407258 RCV003319973

NM_005609.4(PYGM):c.1726C>T (p.Arg576Ter)

SNV
Germline

Chr11:64751966

Pathogenic/Likely pathogenic

Glycogen storage disease, type V
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA252206

rs_119103255

13 SubmittersRCV000002397 RCV000578544

NM_005609.4(PYGM):c.1A>G (p.Met1Val)

SNV
Germline

Chr11:64759898

Pathogenic/Likely pathogenic

Glycogen storage disease, type V
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA252209

rs_267606993

7 SubmittersRCV000002399 RCV001579810

NM_005609.4(PYGM):c.1621G>T (p.Glu541Ter)

SNV
Germline

Chr11:64752071

Pathogenic

Glycogen storage disease, type V

No Assertion Criteria Provided

CA252211

rs_119103257

1 SubmittersRCV000002400

NM_005609.4(PYGM):c.2392T>C (p.Trp798Arg)

SNV
Germline

Chr11:64746796

Pathogenic/Likely pathogenic

Glycogen storage disease, type V
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA222889

rs_119103258

13 SubmittersRCV000002402 RCV000081312

NM_005609.4(PYGM):c.1827G>A (p.Lys609=)

SNV
Germline

Chr11:64751597

Pathogenic/Likely pathogenic

Glycogen storage disease, type V
See cases

Criteria Provided
Multiple Submitters
No Conflicts

CA339964

rs_119103259

8 SubmittersRCV000002403 RCV002251858

NM_005609.4(PYGM):c.1722T>G (p.Tyr574Ter)

SNV
Germline

Chr11:64751970

Likely pathogenic

Glycogen storage disease, type V

Criteria Provided
Single Submitter

CA252213

rs_119103260

2 SubmittersRCV000002404

NM_005609.4(PYGM):c.661-601G>A

SNV
Germline

Chr11:64756159

Pathogenic/Likely pathogenic

McArdle disease, mild
Glycogen storage disease, type V

Criteria Provided
Multiple Submitters
No Conflicts

rs_1474863903

3 SubmittersRCV000002405 RCV001851580

NM_005609.4(PYGM):c.425-26A>G

SNV
Germline

Chr11:64758375

Pathogenic/Likely pathogenic

McArdle disease, mild
Glycogen storage disease, type V
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA212798

rs_764313717

8 SubmittersRCV000002406 RCV000454242 RCV001564860

NM_002863.5(PYGL):c.1768+1G>A

SNV
Germline

Chr14:50912155

Pathogenic

Glycogen storage disease, type VI

Criteria Provided
Multiple Submitters
No Conflicts

CA341169

rs_113993982

7 SubmittersRCV000012772

NM_002863.5(PYGL):c.529-1G>C

SNV
Germline

Chr14:50924101

Pathogenic

Glycogen storage disease, type VI

No Assertion Criteria Provided

CA341170

rs_113993974

2 SubmittersRCV000012773

NM_002863.5(PYGL):c.1131C>G (p.Asn377Lys)

SNV
Germline

Chr14:50915933

Pathogenic

Glycogen storage disease, type VI

No Assertion Criteria Provided

CA341171

rs_113993977

2 SubmittersRCV000012775

NM_002863.5(PYGL):c.1620+1G>A

SNV
Germline

Chr14:50913028

Likely pathogenic

Glycogen storage disease, type VI

Criteria Provided
Single Submitter

CA341172

rs_113993981

3 SubmittersRCV000012776

NM_002863.5(PYGL):c.1195C>T (p.Arg399Ter)

SNV
Germline

Chr14:50915869

Pathogenic

Glycogen storage disease, type VI
Condition: not provided

Criteria Provided
Single Submitter

CA341904

rs_113993978

2 SubmittersRCV000020492 RCV000760439

NM_002863.5(PYGL):c.1366G>A (p.Val456Met)

SNV
Germline

Chr14:50915373

Pathogenic

Glycogen storage disease, type VI

Criteria Provided
Single Submitter

CA341906

rs_113993979

2 SubmittersRCV000020493

NM_002863.5(PYGL):c.1471C>T (p.Arg491Cys)

SNV
Germline

Chr14:50914748

Pathogenic

Glycogen storage disease, type VI

Criteria Provided
Single Submitter

CA341908

rs_113993980

2 SubmittersRCV000020494

NM_002863.5(PYGL):c.1900G>C (p.Asp634His)

SNV
Germline

Chr14:50911799

Conflicting classifications of pathogenicity

Glycogen storage disease, type VI
Condition: not provided
PYGL-related disorder

Criteria Provided
Conflicting Classifications

CA240710

rs_35026927

12 SubmittersRCV000020496 RCV000675363 RCV003934845

NM_002863.5(PYGL):c.2024C>T (p.Ser675Leu)

SNV
Germline

Chr14:50910048

Likely pathogenic

Glycogen storage disease, type VI

Criteria Provided
Single Submitter

CA341916

rs_113993986

2 SubmittersRCV000020499

NM_002863.5(PYGL):c.280C>T (p.Arg94Ter)

SNV
Germline

Chr14:50937801

Pathogenic

Glycogen storage disease, type VI

Criteria Provided
Single Submitter

CA341922

rs_113993973

2 SubmittersRCV000020502

NM_002863.5(PYGL):c.698G>A (p.Gly233Asp)

SNV
Germline

Chr14:50921030

Pathogenic

Glycogen storage disease, type VI

Criteria Provided
Single Submitter

CA341926

rs_113993975

2 SubmittersRCV000020504

NM_002863.5(PYGL):c.1016A>G (p.Asn339Ser)

SNV
Germline

Chr14:50916718

Pathogenic

Glycogen storage disease, type VI

No Assertion Criteria Provided

CA342908

rs_113993976

2 SubmittersRCV000031853

NM_005609.4(PYGM):c.152A>G (p.Asp51Gly)

SNV
Germline

Chr11:64759747

Likely pathogenic

Glycogen storage disease, type V

Criteria Provided
Single Submitter

CA261238

rs_397514631

2 SubmittersRCV000033140

NM_005609.4(PYGM):c.1366G>A (p.Val456Met)

SNV
Germline

Chr11:64753556

Pathogenic/Likely pathogenic

Condition: not provided
Glycogen storage disease, type V

Criteria Provided
Multiple Submitters
No Conflicts

CA222880

rs_398124208

4 SubmittersRCV000790687 RCV000169330

NM_005609.4(PYGM):c.1466C>G (p.Pro489Arg)

SNV
Germline

Chr11:64753125

Pathogenic/Likely pathogenic

Glycogen storage disease, type V
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA222882

rs_398124209

7 SubmittersRCV001047041 RCV000081305

NM_005609.4(PYGM):c.1957C>G (p.Leu653Val)

SNV
Germline

Chr11:64751337

Conflicting classifications of pathogenicity

Condition: not provided
Glycogen storage disease, type V
Tip-toe gait

Criteria Provided
Conflicting Classifications

CA222886

rs_61736659

7 SubmittersRCV000723589 RCV000763760 RCV002227444

NM_005609.4(PYGM):c.645G>A (p.Lys215=)

SNV
Germline

Chr11:64757794

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
not specified
Glycogen storage disease, type V

Criteria Provided
Conflicting Classifications

CA148401

rs_116315896

12 SubmittersRCV000585529 RCV003298135 RCV000081315 RCV000128552

NM_005609.4(PYGM):c.999+20C>T

SNV
Germline

Chr11:64754673

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Glycogen storage disease, type V
PYGM-related disorder

Criteria Provided
Conflicting Classifications

CA222892

rs_201711087

5 SubmittersRCV000238806 RCV000723472 RCV001510568 RCV004752741

NM_005609.4(PYGM):c.255C>A (p.Tyr85Ter)

SNV
Germline

Chr11:64758693

Pathogenic/Likely pathogenic

Glycogen storage disease, type V

Criteria Provided
Multiple Submitters
No Conflicts

CA345696

rs_527236146

4 SubmittersRCV000128551

NM_005609.4(PYGM):c.1A>C (p.Met1Leu)

SNV
Germline

Chr11:64759898

Pathogenic

Glycogen storage disease, type V

Criteria Provided
Multiple Submitters
No Conflicts

CA270754

rs_267606993

4 SubmittersRCV000144425

NM_005609.4(PYGM):c.848A>G (p.Asn283Ser)

SNV
Germline

Chr11:64755280

Conflicting classifications of pathogenicity

Glycogen storage disease, type V
Condition: not provided
PYGM-related disorder

Criteria Provided
Conflicting Classifications

CA234752

rs_114468011

10 SubmittersRCV000370261 RCV000723895 RCV003895051

NM_005609.4(PYGM):c.808C>T (p.Arg270Ter)

SNV
Germline

Chr11:64755320

Pathogenic/Likely pathogenic

Glycogen storage disease, type V
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA274003

rs_767739769

7 SubmittersRCV000169167 RCV000627209

NM_000289.6(PFKM):c.237+1G>A

SNV
Germline

Chr12:48131394

Pathogenic/Likely pathogenic

Glycogen storage disease, type VII
Rhabdomyolysis
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA199168

rs_202143236

11 SubmittersRCV000169670 RCV000662285 RCV002243838

NM_005609.4(PYGM):c.182G>A (p.Arg61His)

SNV
Germline

Chr11:64759717

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Glycogen storage disease, type V

Criteria Provided
Conflicting Classifications

CA238832

rs_145514333

6 SubmittersRCV000173380 RCV000828466 RCV000664912

NM_005609.4(PYGM):c.1237A>T (p.Asn413Tyr)

SNV
Germline

Chr11:64753881

Conflicting classifications of pathogenicity

Glycogen storage disease, type V
Condition: not provided
PYGM-related disorder

Criteria Provided
Conflicting Classifications

CA239269

rs_142054672

7 SubmittersRCV001079321 RCV000675637 RCV003937552

NM_005609.4(PYGM):c.1537A>G (p.Ile513Val)

SNV
Germline

Chr11:64752486

Conflicting classifications of pathogenicity

Condition: not provided
Glycogen storage disease, type V
not specified
PYGM-related disorder
Tip-toe gait

Criteria Provided
Conflicting Classifications

CA240092

rs_139570786

12 SubmittersRCV000675632 RCV000509394 RCV003330533 RCV003430725 RCV001849178

NM_005609.4(PYGM):c.1768+1G>A

SNV
Germline

Chr11:64751923

Pathogenic/Likely pathogenic

Condition: not provided
Inborn genetic diseases
Glycogen storage disease, type V

Criteria Provided
Multiple Submitters
No Conflicts

CA275011

rs_771427957

11 SubmittersRCV000423322 RCV000624349 RCV000763265

NM_002863.5(PYGL):c.1947C>A (p.Tyr649Ter)

SNV
Germline

Chr14:50911752

Pathogenic/Likely pathogenic

Condition: not provided
Glycogen storage disease, type VI

Criteria Provided
Multiple Submitters
No Conflicts

CA275031

rs_150547274

3 SubmittersRCV000175037 RCV002516658

NM_005609.4(PYGM):c.2024C>T (p.Ser675Leu)

SNV
Germline

Chr11:64750529

Conflicting classifications of pathogenicity

Condition: not provided
Glycogen storage disease, type V

Criteria Provided
Conflicting Classifications

CA240894

rs_794727189

3 SubmittersRCV000175191 RCV002516665

NM_005609.4(PYGM):c.660G>A (p.Gln220=)

SNV
Germline

Chr11:64757779

Conflicting classifications of pathogenicity

not specified
Glycogen storage disease, type V
Condition: not provided
Tip-toe gait

Criteria Provided
Conflicting Classifications

CA246105

rs_142234258

17 SubmittersRCV000242887 RCV000374157 RCV000656957 RCV001813765

NM_005609.4(PYGM):c.924C>T (p.Ile308=)

SNV
Germline

Chr11:64754768

Conflicting classifications of pathogenicity

not specified
Glycogen storage disease, type V
Condition: not provided

Criteria Provided
Conflicting Classifications

CA247669

rs_139726186

8 SubmittersRCV000252449 RCV000275037 RCV000724693

NM_005609.4(PYGM):c.1094C>T (p.Ala365Val)

SNV
Germline

Chr11:64754024

Conflicting classifications of pathogenicity

Glycogen storage disease, type V
Condition: not provided
Tip-toe gait

Criteria Provided
Conflicting Classifications

CA275527

rs_116135678

15 SubmittersRCV000185576 RCV000723508 RCV001822854

NM_005609.4(PYGM):c.1870G>A (p.Val624Ile)

SNV
Germline

Chr11:64751424

Conflicting classifications of pathogenicity

not specified
Glycogen storage disease, type V
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6079690

rs_143217651

6 SubmittersRCV000245345 RCV000296404 RCV001722323

NM_005609.4(PYGM):c.612C>T (p.Tyr204=)

SNV
Germline

Chr11:64757827

Conflicting classifications of pathogenicity

not specified
Glycogen storage disease, type V
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6080191

rs_200467937

6 SubmittersRCV000247993 RCV000887073 RCV001705367

NM_005609.4(PYGM):c.540C>T (p.Ala180=)

SNV
Germline

Chr11:64757899

Conflicting classifications of pathogenicity

not specified
Glycogen storage disease, type V

Criteria Provided
Conflicting Classifications

CA6080210

rs_148731983

3 SubmittersRCV000241581 RCV000882322

NM_002863.5(PYGL):c.1274G>A (p.Arg425His)

SNV
Germline

Chr14:50915465

Conflicting classifications of pathogenicity

not specified
Glycogen storage disease, type VI
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7183503

rs_2228499

5 SubmittersRCV000245720 RCV001069939 RCV004021009 RCV004791374

NM_005609.4(PYGM):c.1924C>T (p.Arg642Cys)

SNV
Germline

Chr11:64751370

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Glycogen storage disease, type V
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6079674

rs_116180923

7 SubmittersRCV000319373 RCV000657929 RCV001088058 RCV002519079

NM_005609.4(PYGM):c.1160G>A (p.Arg387His)

SNV
Germline

Chr11:64753958

Conflicting classifications of pathogenicity

Condition: not provided
Glycogen storage disease, type V

Criteria Provided
Conflicting Classifications

CA6079984

rs_200357590

3 SubmittersRCV000368305 RCV001086488

NM_005609.4(PYGM):c.1143G>A (p.Leu381=)

SNV
Germline

Chr11:64753975

Conflicting classifications of pathogenicity

Condition: not provided
Glycogen storage disease, type V

Criteria Provided
Conflicting Classifications

CA6079987

rs_143401208

3 SubmittersRCV000349885 RCV001088703

NM_005609.4(PYGM):c.352C>T (p.Leu118=)

SNV
Germline

Chr11:64758509

Conflicting classifications of pathogenicity

Condition: not provided
Glycogen storage disease, type V

Criteria Provided
Conflicting Classifications

CA6080275

rs_770341565

2 SubmittersRCV000374564 RCV002519119

NM_005609.4(PYGM):c.1349C>T (p.Ser450Leu)

SNV
Germline

Chr11:64753573

Conflicting classifications of pathogenicity

Condition: not provided
Glycogen storage disease, type V
not specified

Criteria Provided
Conflicting Classifications

CA6079907

rs_756251887

6 SubmittersRCV000338366 RCV000671505 RCV001778878

NM_005609.4(PYGM):c.1083C>T (p.Asp361=)

SNV
Germline

Chr11:64754262

Conflicting classifications of pathogenicity

Glycogen storage disease, type V
not specified
Condition: not provided
PYGM-related disorder

Criteria Provided
Conflicting Classifications

CA6080018

rs_141959242

6 SubmittersRCV000310215 RCV000407094 RCV000725611 RCV003920093

NM_005609.4(PYGM):c.1787A>G (p.Asn596Ser)

SNV
Germline

Chr11:64751637

Conflicting classifications of pathogenicity

Condition: not provided
Glycogen storage disease, type V

Criteria Provided
Conflicting Classifications

CA6079735

rs_150622626

7 SubmittersRCV000675629 RCV001103026

NM_005609.4(PYGM):c.2268C>T (p.Pro756=)

SNV
Germline

Chr11:64747268

Conflicting classifications of pathogenicity

Glycogen storage disease, type V
Condition: not provided
PYGM-related disorder

Criteria Provided
Conflicting Classifications

CA6079587

rs_144229867

5 SubmittersRCV000331663 RCV001705453 RCV003940158

NM_005609.4(PYGM):c.537G>A (p.Glu179=)

SNV
Germline

Chr11:64757902

Conflicting classifications of pathogenicity

Glycogen storage disease, type V

Criteria Provided
Conflicting Classifications

CA10631141

rs_886048462

2 SubmittersRCV000285461

NM_002863.5(PYGL):c.691G>A (p.Val231Met)

SNV
Germline

Chr14:50921037

Conflicting classifications of pathogenicity

Glycogen storage disease, type VI
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7183708

rs_148378112

3 SubmittersRCV000361092 RCV002522303

NM_002863.5(PYGL):c.611A>G (p.Tyr204Cys)

SNV
Germline

Chr14:50924018

Conflicting classifications of pathogenicity

Glycogen storage disease, type VI
Condition: not provided
not specified
PYGL-related disorder

Criteria Provided
Conflicting Classifications

CA7183751

rs_34096980

7 SubmittersRCV000325829 RCV000761876 RCV000595200 RCV003910177

NM_002863.5(PYGL):c.603G>T (p.Val201=)

SNV
Germline

Chr14:50924026

Conflicting classifications of pathogenicity

Glycogen storage disease, type VI
Condition: not provided
PYGL-related disorder

Criteria Provided
Conflicting Classifications

CA7183753

rs_138364932

4 SubmittersRCV000364145 RCV003311750 RCV003940215

NM_005609.4(PYGM):c.1239+8C>T

SNV
Germline

Chr11:64753871

Conflicting classifications of pathogenicity

Glycogen storage disease, type V

Criteria Provided
Conflicting Classifications

CA10635243

rs_886048461

3 SubmittersRCV000341998

NM_005609.4(PYGM):c.1011G>A (p.Gln337=)

SNV
Germline

Chr11:64754334

Conflicting classifications of pathogenicity

Glycogen storage disease, type V

Criteria Provided
Conflicting Classifications

CA6080030

rs_767039732

2 SubmittersRCV000367183

NM_000289.6(PFKM):c.638+15C>A

SNV
Germline

Chr12:48134291

Conflicting classifications of pathogenicity

Glycogen storage disease, type VII
not specified

Criteria Provided
Conflicting Classifications

CA6537060

rs_376150217

3 SubmittersRCV000295502 RCV000436568

NM_000289.6(PFKM):c.1242C>G (p.Gly414=)

SNV
Germline

Chr12:48140772

Conflicting classifications of pathogenicity

Glycogen storage disease, type VII

Criteria Provided
Conflicting Classifications

CA10637570

rs_886049454

2 SubmittersRCV000364433

NM_005609.4(PYGM):c.2412G>A (p.Arg804=)

SNV
Germline

Chr11:64746776

Conflicting classifications of pathogenicity

Glycogen storage disease, type V

Criteria Provided
Conflicting Classifications

CA6079514

rs_199927544

3 SubmittersRCV000303890

NM_005609.4(PYGM):c.2177+7G>A

SNV
Germline

Chr11:64750369

Conflicting classifications of pathogenicity

Glycogen storage disease, type V
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6079623

rs_201366697

6 SubmittersRCV000388531 RCV000604465 RCV003221900

NM_005609.4(PYGM):c.877C>T (p.Arg293Trp)

SNV
Germline

Chr11:64754815

Conflicting classifications of pathogenicity

Glycogen storage disease, type V
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA6080079

rs_558267822

6 SubmittersRCV000313797 RCV000522784 RCV002229955

NM_005609.4(PYGM):c.330C>T (p.Asp110=)

SNV
Germline

Chr11:64758618

Conflicting classifications of pathogenicity

Glycogen storage disease, type V
not specified
Condition: not provided
PYGM-related disorder

Criteria Provided
Conflicting Classifications

CA6080309

rs_114742918

8 SubmittersRCV000344345 RCV000443441 RCV000509222 RCV003957578

NM_005609.4(PYGM):c.256C>T (p.Leu86=)

SNV
Germline

Chr11:64758692

Conflicting classifications of pathogenicity

Glycogen storage disease, type V

Criteria Provided
Conflicting Classifications

CA6080317

rs_541817643

2 SubmittersRCV000382595

NM_005609.4(PYGM):c.2290A>G (p.Asn764Asp)

SNV
Germline

Chr11:64747246

Conflicting classifications of pathogenicity

Glycogen storage disease, type V
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6079579

rs_190548494

6 SubmittersRCV000274335 RCV001551241

NM_005609.4(PYGM):c.1266C>T (p.Asp422=)

SNV
Germline

Chr11:64753656

Conflicting classifications of pathogenicity

Glycogen storage disease, type V

Criteria Provided
Conflicting Classifications

CA6079933

rs_769602726

2 SubmittersRCV000338371

NM_005609.4(PYGM):c.1239+12G>A

SNV
Germline

Chr11:64753867

Conflicting classifications of pathogenicity

Glycogen storage disease, type V

Criteria Provided
Conflicting Classifications

CA6079959

rs_760471706

2 SubmittersRCV000284704

NM_005609.4(PYGM):c.606C>T (p.His202=)

SNV
Germline

Chr11:64757833

Conflicting classifications of pathogenicity

Glycogen storage disease, type V

Criteria Provided
Conflicting Classifications

CA6080193

rs_79860859

3 SubmittersRCV000263138

NM_002863.5(PYGL):c.1920G>A (p.Lys640=)

SNV
Germline

Chr14:50911779

Conflicting classifications of pathogenicity

Glycogen storage disease, type VI
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7183290

rs_140296036

3 SubmittersRCV000379057 RCV003391122

NM_002863.5(PYGL):c.1884A>G (p.Ala628=)

SNV
Germline

Chr14:50911815

Conflicting classifications of pathogenicity

Glycogen storage disease, type VI

Criteria Provided
Conflicting Classifications

CA7183297

rs_374560108

2 SubmittersRCV000289301

NM_002863.5(PYGL):c.1757C>T (p.Thr586Met)

SNV
Germline

Chr14:50912167

Conflicting classifications of pathogenicity

Glycogen storage disease, type VI
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7183363

rs_144989341

4 SubmittersRCV000385175 RCV003165843 RCV004791404

NM_000289.6(PFKM):c.453G>A (p.Thr151=)

SNV
Germline

Chr12:48133340

Conflicting classifications of pathogenicity

Glycogen storage disease, type VII
not specified

Criteria Provided
Conflicting Classifications

CA6537002

rs_144370737

5 SubmittersRCV000335148 RCV000437761

NM_000289.6(PFKM):c.1063-7C>T

SNV
Germline

Chr12:48139278

Conflicting classifications of pathogenicity

Glycogen storage disease, type VII

Criteria Provided
Conflicting Classifications

CA6537203

rs_776228408

2 SubmittersRCV000312118

NM_002863.5(PYGL):c.1519-15C>A

SNV
Germline

Chr14:50913145

Conflicting classifications of pathogenicity

Glycogen storage disease, type VI

Criteria Provided
Conflicting Classifications

CA7183442

rs_372886463

2 SubmittersRCV000391908

NM_005609.4(PYGM):c.2528G>T (p.Ter843Leu)

SNV
Unknown

Chr11:64746660

Likely pathogenic

Glycogen storage disease, type V

Criteria Provided
Single Submitter

CA16041492

rs_1057516529

1 SubmittersRCV000409749

NM_005609.4(PYGM):c.2352C>A (p.Cys784Ter)

SNV
Germline

Chr11:64746948

Pathogenic/Likely pathogenic

Glycogen storage disease, type V
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA16041493

rs_1057517001

6 SubmittersRCV000409053 RCV001508669

NM_005609.4(PYGM):c.1970-1G>A

SNV
Unknown

Chr11:64750584

Likely pathogenic

Glycogen storage disease, type V

Criteria Provided
Single Submitter

CA16041496

rs_1057516598

1 SubmittersRCV000410171

NM_005609.4(PYGM):c.1969+1G>T

SNV
Unknown

Chr11:64751324

Likely pathogenic

Glycogen storage disease, type V

Criteria Provided
Single Submitter

CA16041497

rs_753181427

1 SubmittersRCV000411206

NM_005609.4(PYGM):c.1827+1G>C

SNV
Germline

Chr11:64751596

Likely pathogenic

Glycogen storage disease, type V
Tip-toe gait

Criteria Provided
Multiple Submitters
No Conflicts

CA16041498

rs_1057517442

3 SubmittersRCV000409723 RCV003319195

NM_005609.4(PYGM):c.1768+2T>G

SNV
Germline

Chr11:64751922

Pathogenic/Likely pathogenic

Glycogen storage disease, type V

Criteria Provided
Multiple Submitters
No Conflicts

CA6079760

rs_747513238

4 SubmittersRCV000411312

NM_005609.4(PYGM):c.1717G>T (p.Glu573Ter)

SNV
Germline

Chr11:64751975

Pathogenic/Likely pathogenic

Glycogen storage disease, type V

Criteria Provided
Multiple Submitters
No Conflicts

CA6079772

rs_752848974

3 SubmittersRCV000410338

NM_005609.4(PYGM):c.1092+1G>A

SNV
Germline

Chr11:64754252

Likely pathogenic

Glycogen storage disease, type V

Criteria Provided
Multiple Submitters
No Conflicts

CA6080017

rs_749560316

4 SubmittersRCV000411263

NM_005609.4(PYGM):c.528+2T>G

SNV
Germline

Chr11:64758244

Likely pathogenic

Glycogen storage disease, type V

Criteria Provided
Multiple Submitters
No Conflicts

CA16041501

rs_1057516468

3 SubmittersRCV000410907

NM_005609.4(PYGM):c.425-2A>G

SNV
Germline

Chr11:64758351

Pathogenic/Likely pathogenic

Glycogen storage disease, type V

Criteria Provided
Multiple Submitters
No Conflicts

CA6080246

rs_752851284

4 SubmittersRCV000410172

NM_005609.4(PYGM):c.252C>G (p.Tyr84Ter)

SNV
Germline

Chr11:64758696

Pathogenic/Likely pathogenic

Glycogen storage disease, type V

Criteria Provided
Multiple Submitters
No Conflicts

CA16041505

rs_1057517145

3 SubmittersRCV000412392

NM_005609.4(PYGM):c.217C>T (p.Gln73Ter)

SNV
Unknown

Chr11:64759682

Likely pathogenic

Glycogen storage disease, type V

Criteria Provided
Multiple Submitters
No Conflicts

CA16041506

rs_1057517361

2 SubmittersRCV000409722

NM_005609.4(PYGM):c.204G>A (p.Trp68Ter)

SNV
Germline

Chr11:64759695

Pathogenic/Likely pathogenic

Glycogen storage disease, type V

Criteria Provided
Multiple Submitters
No Conflicts

CA16041507

rs_1057516349

2 SubmittersRCV000411559

NM_005609.4(PYGM):c.2199C>T (p.Tyr733=)

SNV
Germline

Chr11:64747337

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Glycogen storage disease, type V

Criteria Provided
Conflicting Classifications

CA6079602

rs_140102591

4 SubmittersRCV000418804 RCV000994652 RCV001108215

NM_005609.4(PYGM):c.1692C>T (p.Phe564=)

SNV
Germline

Chr11:64752000

Conflicting classifications of pathogenicity

Glycogen storage disease, type V
Condition: not provided
PYGM-related disorder

Criteria Provided
Conflicting Classifications

CA6079779

rs_116812032

6 SubmittersRCV000531995 RCV001720162 RCV003902525

NM_005609.4(PYGM):c.1465C>T (p.Pro489Ser)

SNV
Germline

Chr11:64753126

Conflicting classifications of pathogenicity

Condition: not provided
Glycogen storage disease, type V

Criteria Provided
Conflicting Classifications

CA6079853

rs_752622662

3 SubmittersRCV000480329 RCV000675078

NM_000289.6(PFKM):c.115C>T (p.Arg39Ter)

SNV
Germline

Chr12:48130392

Pathogenic/Likely pathogenic

Condition: not provided
Glycogen storage disease, type VII

Criteria Provided
Multiple Submitters
No Conflicts

CA16619532

rs_1064795749

4 SubmittersRCV000485301 RCV001274001

NM_005609.4(PYGM):c.1970-2A>T

SNV
Germline

Chr11:64750585

Pathogenic/Likely pathogenic

Condition: not provided
Glycogen storage disease, type V

Criteria Provided
Multiple Submitters
No Conflicts

CA16621622

rs_1064797157

2 SubmittersRCV000488033 RCV001782972

NM_005609.4(PYGM):c.2312G>A (p.Arg771Gln)

SNV
Germline

Chr11:64747224

Pathogenic/Likely pathogenic

Condition: not provided
Glycogen storage disease, type V

Criteria Provided
Multiple Submitters
No Conflicts

CA6079570

rs_150911354

6 SubmittersRCV000493384 RCV000669086

NM_005609.4(PYGM):c.1147G>A (p.Glu383Lys)

SNV
Germline

Chr11:64753971

Pathogenic/Likely pathogenic

Condition: not provided
Glycogen storage disease, type V
PYGM-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA6079985

rs_757681143

7 SubmittersRCV000494108 RCV001036939 RCV003409682

NM_005609.4(PYGM):c.1948C>T (p.Arg650Ter)

SNV
Germline

Chr11:64751346

Pathogenic

Glycogen storage disease, type V
See cases

Criteria Provided
Multiple Submitters
No Conflicts

CA6079669

rs_114073621

6 SubmittersRCV000498994 RCV003324712

NM_005609.4(PYGM):c.2178-1G>A

SNV
Germline

Chr11:64747359

Pathogenic/Likely pathogenic

Condition: not provided
Glycogen storage disease, type V

Criteria Provided
Multiple Submitters
No Conflicts

CA6079609

rs_143670942

5 SubmittersRCV000520606 RCV001783020

NM_005609.4(PYGM):c.1925G>A (p.Arg642His)

SNV
Germline

Chr11:64751369

Conflicting classifications of pathogenicity

Condition: not provided
Glycogen storage disease, type V
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6079673

rs_150098198

5 SubmittersRCV000519020 RCV001271475 RCV002527593

NM_005609.4(PYGM):c.517G>A (p.Gly173Arg)

SNV
Germline

Chr11:64758257

Conflicting classifications of pathogenicity

Condition: not provided
Glycogen storage disease, type V
EBV-positive nodal T- and NK-cell lymphoma

Criteria Provided
Conflicting Classifications

CA6080233

rs_141265458

5 SubmittersRCV000523818 RCV000812757 RCV004559144

NM_005609.4(PYGM):c.280C>T (p.Arg94Trp)

SNV
Germline

Chr11:64758668

Pathogenic

Glycogen storage disease, type V
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA6080314

rs_370247862

6 SubmittersRCV000557171 RCV001540069

NM_005609.4(PYGM):c.1888G>A (p.Val630Met)

SNV
Germline

Chr11:64751406

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Glycogen storage disease, type V
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6079683

rs_115347245

7 SubmittersRCV000596502 RCV000837922 RCV001088368 RCV002532359

NM_002863.5(PYGL):c.697G>A (p.Gly233Ser)

SNV
Germline

Chr14:50921031

Pathogenic/Likely pathogenic

Condition: not provided
Glycogen storage disease, type VI

Criteria Provided
Multiple Submitters
No Conflicts

CA7183705

rs_749922511

4 SubmittersRCV000592955 RCV000989223

NM_005609.4(PYGM):c.661-9C>T

SNV
Germline

Chr11:64755567

Conflicting classifications of pathogenicity

Condition: not provided
Glycogen storage disease, type V

Criteria Provided
Conflicting Classifications

CA6080166

rs_776779910

2 SubmittersRCV000595437 RCV001443981

NM_005609.4(PYGM):c.855+4C>T

SNV
Germline

Chr11:64755269

Conflicting classifications of pathogenicity

Condition: not provided
Glycogen storage disease, type V

Criteria Provided
Conflicting Classifications

CA6080102

rs_199834605

2 SubmittersRCV001722626 RCV002529458

NM_000289.6(PFKM):c.1191+6G>T

SNV
Germline

Chr12:48139918

Conflicting classifications of pathogenicity

not specified
Glycogen storage disease, type VII

Criteria Provided
Conflicting Classifications

CA6537258

rs_779486374

2 SubmittersRCV000611528 RCV002531708

NM_000289.6(PFKM):c.1412+6T>C

SNV
Germline

Chr12:48141387

Conflicting classifications of pathogenicity

not specified
Glycogen storage disease, type VII

Criteria Provided
Conflicting Classifications

CA604848098

rs_1417385697

2 SubmittersRCV000611211 RCV002531639

NM_002863.5(PYGL):c.1145C>T (p.Pro382Leu)

SNV
Germline

Chr14:50915919

Conflicting classifications of pathogenicity

Glycogen storage disease, type VI
Condition: not provided
not specified
PYGL-related disorder

Criteria Provided
Conflicting Classifications

CA7183547

rs_143759519

10 SubmittersRCV000625936 RCV003311865 RCV003488738 RCV003917992

NM_005609.4(PYGM):c.2392T>A (p.Trp798Arg)

SNV
Germline

Chr11:64746796

Pathogenic

Glycogen storage disease, type V

Criteria Provided
Multiple Submitters
No Conflicts

CA6079524

rs_119103258

4 SubmittersRCV000631182

NM_005609.4(PYGM):c.1345G>A (p.Gly449Arg)

SNV
Germline

Chr11:64753577

Pathogenic/Likely pathogenic

Condition: not provided
Glycogen storage disease, type V

Criteria Provided
Multiple Submitters
No Conflicts

rs_769172044

4 SubmittersRCV000657906 RCV001275777

NM_005609.4(PYGM):c.2380-1G>A

SNV
Germline

Chr11:64746809

Pathogenic/Likely pathogenic

Glycogen storage disease, type V
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555133248

4 SubmittersRCV000668975 RCV001766443

NM_005609.4(PYGM):c.1A>T (p.Met1Leu)

SNV
Germline

Chr11:64759898

Pathogenic

Glycogen storage disease, type V

Criteria Provided
Multiple Submitters
No Conflicts

rs_267606993

2 SubmittersRCV000668678

NM_005609.4(PYGM):c.2143C>T (p.Arg715Trp)

SNV
Germline

Chr11:64750410

Conflicting classifications of pathogenicity

Glycogen storage disease, type V
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_780656375

6 SubmittersRCV000670902 RCV004812348

NM_005609.4(PYGM):c.1193C>T (p.Pro398Leu)

SNV
Germline

Chr11:64753925

Conflicting classifications of pathogenicity

Glycogen storage disease, type V

Criteria Provided
Conflicting Classifications

rs_773204705

5 SubmittersRCV000667688

NM_005609.4(PYGM):c.1093-1G>T

SNV
Unknown

Chr11:64754026

Likely pathogenic

Glycogen storage disease, type V

Criteria Provided
Single Submitter

rs_1163710370

1 SubmittersRCV000670071

NM_005609.4(PYGM):c.875T>C (p.Leu292Pro)

SNV
Germline

Chr11:64754817

Conflicting classifications of pathogenicity

Glycogen storage disease, type V
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_780375860

4 SubmittersRCV000666175 RCV002469240

NM_005609.4(PYGM):c.1129A>T (p.Asn377Tyr)

SNV
Germline

Chr11:64753989

Conflicting classifications of pathogenicity

Glycogen storage disease, type V
not specified

Criteria Provided
Conflicting Classifications

rs_954192338

4 SubmittersRCV000672453 RCV004526749

NM_005609.4(PYGM):c.660+1G>A

SNV
Germline

Chr11:64757778

Likely pathogenic

Glycogen storage disease, type V

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555136208

3 SubmittersRCV000667359

NM_005609.4(PYGM):c.481C>T (p.Arg161Cys)

SNV
Germline

Chr11:64758293

Conflicting classifications of pathogenicity

Glycogen storage disease, type V

Criteria Provided
Conflicting Classifications

rs_200038732

4 SubmittersRCV000666983

NM_005609.4(PYGM):c.475G>A (p.Gly159Arg)

SNV
Germline

Chr11:64758299

Conflicting classifications of pathogenicity

Glycogen storage disease, type V
not specified

Criteria Provided
Conflicting Classifications

rs_760654579

3 SubmittersRCV000671611 RCV002282315

NM_005609.4(PYGM):c.1151C>T (p.Ala384Val)

SNV
Germline

Chr11:64753967

Conflicting classifications of pathogenicity

Glycogen storage disease, type V

Criteria Provided
Conflicting Classifications

rs_1465752595

2 SubmittersRCV000671988

NM_005609.4(PYGM):c.415C>T (p.Arg139Trp)

SNV
Germline

Chr11:64758446

Conflicting classifications of pathogenicity

Glycogen storage disease, type V

Criteria Provided
Conflicting Classifications

rs_367990192

6 SubmittersRCV000671584

NM_005609.4(PYGM):c.370G>T (p.Glu124Ter)

SNV
Unknown

Chr11:64758491

Likely pathogenic

Glycogen storage disease, type V

Criteria Provided
Single Submitter

rs_1555136459

1 SubmittersRCV000668184

NM_005609.4(PYGM):c.347T>C (p.Leu116Pro)

SNV
Germline

Chr11:64758514

Conflicting classifications of pathogenicity

Glycogen storage disease, type V

Criteria Provided
Conflicting Classifications

rs_776680924

5 SubmittersRCV000666659

NM_000289.6(PFKM):c.1127G>A (p.Arg376Gln)

SNV
Germline

Chr12:48139349

Pathogenic/Likely pathogenic

Glycogen storage disease, type VII

Criteria Provided
Multiple Submitters
No Conflicts

rs_187131358

4 SubmittersRCV000670080

NM_005609.4(PYGM):c.1239+1G>A

SNV
Germline

Chr11:64753878

Pathogenic

Glycogen storage disease, type V

Criteria Provided
Multiple Submitters
No Conflicts

rs_759657964

3 SubmittersRCV000690159

NM_000289.6(PFKM):c.1191+1G>A

SNV
Germline

Chr12:48139913

Likely pathogenic

Glycogen storage disease, type VII

Criteria Provided
Multiple Submitters
No Conflicts

rs_746348793

4 SubmittersRCV000696045

NM_005609.4(PYGM):c.856-2A>C

SNV
Germline

Chr11:64754838

Likely pathogenic

Condition: not provided
Glycogen storage disease, type V

Criteria Provided
Single Submitter

rs_1565536363

2 SubmittersRCV000723129 RCV003768171

NM_005609.4(PYGM):c.1805G>A (p.Arg602Gln)

SNV
Germline

Chr11:64751619

Pathogenic/Likely pathogenic

Condition: not provided
Glycogen storage disease, type V
Tip-toe gait
PYGM-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

rs_373190458

10 SubmittersRCV000727737 RCV000779073 RCV002221250 RCV003420284

NM_000289.6(PFKM):c.1413-2A>G

SNV
Germline

Chr12:48141738

Pathogenic/Likely pathogenic

Condition: not provided
Glycogen storage disease, type VII

Criteria Provided
Multiple Submitters
No Conflicts

rs_1430517061

3 SubmittersRCV000733881 RCV001065921

NM_005609.4(PYGM):c.403G>A (p.Gly135Arg)

SNV
Germline

Chr11:64758458

Pathogenic/Likely pathogenic

Glycogen storage disease, type V

Criteria Provided
Multiple Submitters
No Conflicts

rs_780246932

3 SubmittersRCV000761339

NM_005609.4(PYGM):c.1723A>G (p.Lys575Glu)

SNV
Germline

Chr11:64751969

Conflicting classifications of pathogenicity

Glycogen storage disease, type V

Criteria Provided
Conflicting Classifications

rs_1315020035

2 SubmittersRCV000778335

NM_002863.5(PYGL):c.2467C>T (p.Gln823Ter)

SNV
Germline

Chr14:50905469

Conflicting classifications of pathogenicity

Glycogen storage disease, type VI

Criteria Provided
Conflicting Classifications

rs_756205397

2 SubmittersRCV000779138

NM_002863.5(PYGL):c.1729C>T (p.Gln577Ter)

SNV
Germline

Chr14:50912195

Conflicting classifications of pathogenicity

Glycogen storage disease, type VI
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_149096315

3 SubmittersRCV000779139 RCV001585707

NM_005609.4(PYGM):c.2083G>A (p.Gly695Arg)

SNV
Germline

Chr11:64750470

Pathogenic

Glycogen storage disease, type V
Glycogen storage disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_768604948

4 SubmittersRCV000815465 RCV004017747

NM_005609.4(PYGM):c.1561A>T (p.Lys521Ter)

SNV
Germline

Chr11:64752462

Pathogenic

Glycogen storage disease, type V

Criteria Provided
Single Submitter

rs_1592410003

1 SubmittersRCV000805625

NM_002863.5(PYGL):c.2426C>T (p.Ser809Leu)

SNV
Germline

Chr14:50905510

Pathogenic/Likely pathogenic

Glycogen storage disease, type VI

Criteria Provided
Multiple Submitters
No Conflicts

rs_760187622

2 SubmittersRCV000809511

NM_002863.5(PYGL):c.2071G>C (p.Gly691Arg)

SNV
Germline

Chr14:50910001

Pathogenic/Likely pathogenic

Glycogen storage disease, type VI

Criteria Provided
Multiple Submitters
No Conflicts

rs_539898848

3 SubmittersRCV000811116

NM_005609.4(PYGM):c.1240-2A>G

SNV
Germline

Chr11:64753684

Likely pathogenic

Glycogen storage disease, type V
PYGM-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

rs_1212333772

4 SubmittersRCV000815772 RCV004753050

NM_002863.5(PYGL):c.772+1G>A

SNV
Germline

Chr14:50920955

Pathogenic/Likely pathogenic

Glycogen storage disease, type VI
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_776545903

2 SubmittersRCV000797589 RCV003332253

NM_005609.4(PYGM):c.2286T>G (p.Ile762Met)

SNV
Germline

Chr11:64747250

Conflicting classifications of pathogenicity

Condition: not provided
Glycogen storage disease, type V
not specified

Criteria Provided
Conflicting Classifications

rs_75685607

4 SubmittersRCV000828467 RCV001423332 RCV002298792

NM_005609.4(PYGM):c.1110G>A (p.Val370=)

SNV
Germline

Chr11:64754008

Conflicting classifications of pathogenicity

Glycogen storage disease, type V

Criteria Provided
Conflicting Classifications

rs_372719040

3 SubmittersRCV000892111

NM_000289.6(PFKM):c.41T>C (p.Ile14Thr)

SNV
Germline

Chr12:48122815

Conflicting classifications of pathogenicity

Glycogen storage disease, type VII
PFKM-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_140473672

5 SubmittersRCV000878987 RCV003948282 RCV004792567

NM_002863.5(PYGL):c.147C>T (p.Thr49=)

SNV
Germline

Chr14:50944257

Conflicting classifications of pathogenicity

Condition: not provided
Glycogen storage disease, type VI

Criteria Provided
Conflicting Classifications

rs_139338050

3 SubmittersRCV000883353 RCV001113925

NM_005609.4(PYGM):c.2082C>T (p.Asp694=)

SNV
Germline

Chr11:64750471

Conflicting classifications of pathogenicity

Glycogen storage disease, type V

Criteria Provided
Conflicting Classifications

rs_773543072

2 SubmittersRCV001108216

NM_000289.6(PFKM):c.2121G>A (p.Ser707=)

SNV
Germline

Chr12:48145238

Conflicting classifications of pathogenicity

Glycogen storage disease, type VII

Criteria Provided
Conflicting Classifications

rs_370046842

2 SubmittersRCV000941174

NM_005609.4(PYGM):c.346-9C>T

SNV
Germline

Chr11:64758524

Conflicting classifications of pathogenicity

Glycogen storage disease, type V

Criteria Provided
Conflicting Classifications

rs_368998655

2 SubmittersRCV001103123

NM_002863.5(PYGL):c.1410G>C (p.Lys470Asn)

SNV
Germline

Chr14:50914809

Conflicting classifications of pathogenicity

Glycogen storage disease, type VI
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_78433217

2 SubmittersRCV001392683 RCV004958351

NM_002863.5(PYGL):c.176C>A (p.Thr59Lys)

SNV
Unknown

Chr14:50944228

Likely pathogenic

Glycogen storage disease, type VI

Criteria Provided
Single Submitter

rs_150483902

1 SubmittersRCV000989224

NM_005609.4(PYGM):c.1708C>T (p.Arg570Trp)

SNV
Germline

Chr11:64751984

Conflicting classifications of pathogenicity

Glycogen storage disease, type V
not specified
Condition: not provided
Glycogen storage disease
PYGM-related disorder

Criteria Provided
Conflicting Classifications

rs_377225525

9 SubmittersRCV000995849 RCV003323777 RCV001823175 RCV004017771 RCV004753160

NM_005609.4(PYGM):c.1657G>T (p.Glu553Ter)

SNV
Germline

Chr11:64752035

Pathogenic

Glycogen storage disease, type V

Criteria Provided
Single Submitter

rs_1311913891

1 SubmittersRCV001063572

NM_005609.4(PYGM):c.1190T>C (p.Leu397Pro)

SNV
Germline

Chr11:64753928

Pathogenic/Likely pathogenic

Glycogen storage disease, type V
Condition: not provided
Tip-toe gait

Criteria Provided
Multiple Submitters
No Conflicts

rs_1005687078

6 SubmittersRCV001062130 RCV001557247 RCV003319218

NM_000289.6(PFKM):c.292C>T (p.Arg98Ter)

SNV
Germline

Chr12:48132922

Pathogenic

Glycogen storage disease, type VII

Criteria Provided
Multiple Submitters
No Conflicts

rs_138893744

3 SubmittersRCV001047427

NM_005609.4(PYGM):c.345+2T>A

SNV
Germline

Chr11:64758601

Pathogenic/Likely pathogenic

Glycogen storage disease, type V

Criteria Provided
Multiple Submitters
No Conflicts

rs_1219299972

3 SubmittersRCV001051949

NM_005609.4(PYGM):c.528+1G>A

SNV
Germline

Chr11:64758245

Likely pathogenic

Glycogen storage disease, type V

Criteria Provided
Single Submitter

rs_1262967083

1 SubmittersRCV001041989

NM_005609.4(PYGM):c.1769-1G>A

SNV
Germline

Chr11:64751656

Likely pathogenic

Glycogen storage disease, type V

Criteria Provided
Single Submitter

rs_2058357329

1 SubmittersRCV001068083

NM_002863.5(PYGL):c.1620+1G>T

SNV
Germline

Chr14:50913028

Pathogenic

Glycogen storage disease, type VI

Criteria Provided
Single Submitter

rs_113993981

1 SubmittersRCV001053056

NM_005609.4(PYGM):c.2322C>T (p.Val774=)

SNV
Germline

Chr11:64746978

Conflicting classifications of pathogenicity

Glycogen storage disease, type V
PYGM-related disorder

Criteria Provided
Conflicting Classifications

rs_1045215677

3 SubmittersRCV001105986 RCV003945813

NM_005609.4(PYGM):c.177C>T (p.Thr59=)

SNV
Germline

Chr11:64759722

Conflicting classifications of pathogenicity

Glycogen storage disease, type V

Criteria Provided
Conflicting Classifications

rs_753355735

2 SubmittersRCV001105034

NM_005609.4(PYGM):c.1769-7T>C

SNV
Germline

Chr11:64751662

Conflicting classifications of pathogenicity

Glycogen storage disease, type V

Criteria Provided
Conflicting Classifications

rs_2058357396

3 SubmittersRCV001103027

NM_005609.4(PYGM):c.1092+15C>T

SNV
Germline

Chr11:64754238

Conflicting classifications of pathogenicity

Glycogen storage disease, type V

Criteria Provided
Conflicting Classifications

rs_1319046232

2 SubmittersRCV001106095

NM_000289.6(PFKM):c.864A>G (p.Gly288=)

SNV
Germline

Chr12:48135311

Conflicting classifications of pathogenicity

Glycogen storage disease, type VII

Criteria Provided
Conflicting Classifications

rs_1313998695

2 SubmittersRCV001110465

NM_002863.5(PYGL):c.1617G>A (p.Lys539=)

SNV
Germline

Chr14:50913032

Conflicting classifications of pathogenicity

Glycogen storage disease, type VI
PYGL-related disorder

Criteria Provided
Conflicting Classifications

rs_17721570

3 SubmittersRCV001113834 RCV003898106

NM_002863.5(PYGL):c.1768+10C>T

SNV
Germline

Chr14:50912146

Conflicting classifications of pathogenicity

Glycogen storage disease, type VI

Criteria Provided
Conflicting Classifications

rs_780893472

2 SubmittersRCV001112492

NM_002863.5(PYGL):c.2177+2T>C

SNV
Unknown

Chr14:50909893

Likely pathogenic

Glycogen storage disease, type VI

Criteria Provided
Single Submitter

rs_1368182301

1 SubmittersRCV001199242

NM_005609.4(PYGM):c.2199C>G (p.Tyr733Ter)

SNV
Germline

Chr11:64747337

Pathogenic

Glycogen storage disease, type V

Criteria Provided
Multiple Submitters
No Conflicts

rs_140102591

2 SubmittersRCV001211508

NM_005609.4(PYGM):c.2111C>T (p.Ala704Val)

SNV
Germline

Chr11:64750442

Pathogenic/Likely pathogenic

Glycogen storage disease, type V

Criteria Provided
Multiple Submitters
No Conflicts

rs_1483102315

2 SubmittersRCV001204475

NM_005609.4(PYGM):c.1760T>C (p.Leu587Pro)

SNV
Germline

Chr11:64751932

Pathogenic/Likely pathogenic

Glycogen storage disease, type V

Criteria Provided
Multiple Submitters
No Conflicts

rs_761438921

3 SubmittersRCV001202839

NM_005609.4(PYGM):c.107T>G (p.Leu36Arg)

SNV
Germline

Chr11:64759792

Conflicting classifications of pathogenicity

Glycogen storage disease, type V

Criteria Provided
Conflicting Classifications

rs_1394188143

3 SubmittersRCV001205755

NM_002863.5(PYGL):c.1334T>C (p.Leu445Pro)

SNV
Germline

Chr14:50915405

Likely pathogenic

Glycogen storage disease, type VI

Criteria Provided
Multiple Submitters
No Conflicts

rs_2050437440

2 SubmittersRCV001211148

NM_000289.6(PFKM):c.936+1G>A

SNV
Germline

Chr12:48135384

Likely pathogenic

Glycogen storage disease, type VII

Criteria Provided
Single Submitter

rs_1949974650

1 SubmittersRCV001215639

NM_000289.6(PFKM):c.1500+1G>A

SNV
Germline

Chr12:48141828

Pathogenic/Likely pathogenic

Glycogen storage disease, type VII

Criteria Provided
Multiple Submitters
No Conflicts

rs_770066278

4 SubmittersRCV001215088

NM_002863.5(PYGL):c.1831G>A (p.Ala611Thr)

SNV
Germline

Chr14:50911868

Likely pathogenic

Glycogen storage disease, type VI

Criteria Provided
Single Submitter

rs_767847163

1 SubmittersRCV001231964

NM_005609.4(PYGM):c.580C>T (p.Arg194Trp)

SNV
Germline

Chr11:64757859

Conflicting classifications of pathogenicity

Glycogen storage disease, type V
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_376581557

4 SubmittersRCV001239256 RCV001751473

NM_005609.4(PYGM):c.2T>C (p.Met1Thr)

SNV
Germline

Chr11:64759897

Likely pathogenic

Glycogen storage disease, type V

Criteria Provided
Single Submitter

rs_2058423391

2 SubmittersRCV001244574

NM_005609.4(PYGM):c.2082C>A (p.Asp694Glu)

SNV
Germline

Chr11:64750471

Likely pathogenic

Glycogen storage disease, type V

Criteria Provided
Single Submitter

rs_773543072

1 SubmittersRCV001267843

NM_005609.4(PYGM):c.2182A>G (p.Asn728Asp)

SNV
Germline

Chr11:64747354

Conflicting classifications of pathogenicity

Glycogen storage disease, type V
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_200058475

4 SubmittersRCV001280465 RCV003883598

NM_005609.4(PYGM):c.1403+5G>A

SNV
Germline

Chr11:64753514

Conflicting classifications of pathogenicity

Glycogen storage disease, type V
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_373040789

4 SubmittersRCV001280472 RCV001571343

NM_005609.4(PYGM):c.661-599G>T

SNV
Germline

Chr11:64756157

Conflicting classifications of pathogenicity

Glycogen storage disease, type V
PYGM-related disorder

No Assertion Criteria Provided

rs_963364351

2 SubmittersRCV001277991 RCV003945957

NM_000289.6(PFKM):c.1063-6C>A

SNV
Germline

Chr12:48139279

Conflicting classifications of pathogenicity

Glycogen storage disease, type VII

Criteria Provided
Conflicting Classifications

rs_371033104

3 SubmittersRCV001286776

NM_002863.5(PYGL):c.1620+1G>C

SNV
Germline

Chr14:50913028

Pathogenic

Glycogen storage disease, type VI

Criteria Provided
Multiple Submitters
No Conflicts

rs_113993981

4 SubmittersRCV001293797

NM_002863.5(PYGL):c.72C>A (p.Asn24Lys)

SNV
Germline

Chr14:50944332

Pathogenic

Glycogen storage disease, type VI

Criteria Provided
Single Submitter

rs_1375868904

1 SubmittersRCV001293798

NM_002863.5(PYGL):c.528+2T>C

SNV
Unknown

Chr14:50931671

Pathogenic

Glycogen storage disease, type VI

Criteria Provided
Single Submitter

rs_1243388778

1 SubmittersRCV001330995

NM_005609.4(PYGM):c.1092+1G>C

SNV
Germline

Chr11:64754252

Likely pathogenic

Glycogen storage disease, type V

Criteria Provided
Single Submitter

rs_749560316

1 SubmittersRCV001379674

NM_005609.4(PYGM):c.855+1G>A

SNV
Germline

Chr11:64755272

Likely pathogenic

Glycogen storage disease, type V

Criteria Provided
Single Submitter

rs_2135836123

2 SubmittersRCV001376828

NM_005609.4(PYGM):c.773-1G>C

SNV
Germline

Chr11:64755356

Likely pathogenic

Glycogen storage disease, type V

Criteria Provided
Single Submitter

rs_2135836264

1 SubmittersRCV001378761

NM_005609.4(PYGM):c.244-1G>A

SNV
Germline

Chr11:64758705

Likely pathogenic

Glycogen storage disease, type V

Criteria Provided
Single Submitter

rs_2135840980

1 SubmittersRCV001379809

NM_000289.6(PFKM):c.159+1G>T

SNV
Germline

Chr12:48130437

Likely pathogenic

Glycogen storage disease, type VII

Criteria Provided
Multiple Submitters
No Conflicts

rs_1305706304

4 SubmittersRCV001378843

NM_000289.6(PFKM):c.1127+1G>T

SNV
Germline

Chr12:48139350

Likely pathogenic

Glycogen storage disease, type VII

Criteria Provided
Single Submitter

rs_2135976459

1 SubmittersRCV001379631

NM_005609.4(PYGM):c.1403+1G>A

SNV
Germline

Chr11:64753518

Pathogenic

Glycogen storage disease, type V

Criteria Provided
Multiple Submitters
No Conflicts

rs_1191939323

4 SubmittersRCV001382415

NM_005609.4(PYGM):c.1119T>A (p.Cys373Ter)

SNV
Germline

Chr11:64753999

Pathogenic/Likely pathogenic

Glycogen storage disease, type V

Criteria Provided
Multiple Submitters
No Conflicts

rs_2058377004

2 SubmittersRCV001381049

NM_005609.4(PYGM):c.681C>A (p.Tyr227Ter)

SNV
Germline

Chr11:64755538

Pathogenic

Glycogen storage disease, type V

Criteria Provided
Single Submitter

rs_377503100

1 SubmittersRCV001386380

NM_005609.4(PYGM):c.225C>A (p.Tyr75Ter)

SNV
Germline

Chr11:64759674

Pathogenic

Glycogen storage disease, type V

Criteria Provided
Multiple Submitters
No Conflicts

rs_773361937

3 SubmittersRCV001382416

NM_000289.6(PFKM):c.165T>A (p.Tyr55Ter)

SNV
Germline

Chr12:48131321

Pathogenic

Glycogen storage disease, type VII

Criteria Provided
Single Submitter

rs_2135856711

1 SubmittersRCV001387775

NM_000289.6(PFKM):c.298C>T (p.Arg100Ter)

SNV
Germline

Chr12:48132928

Pathogenic/Likely pathogenic

Glycogen storage disease, type VII

Criteria Provided
Multiple Submitters
No Conflicts

rs_374547385

2 SubmittersRCV001385034

NM_000289.6(PFKM):c.1413-64A>G

SNV
Germline

Chr12:48141676

Pathogenic/Likely pathogenic

Glycogen storage disease, type VII

Criteria Provided
Multiple Submitters
No Conflicts

rs_1202417178

2 SubmittersRCV001387777

NM_002863.5(PYGL):c.1726C>T (p.Arg576Ter)

SNV
Germline

Chr14:50912198

Pathogenic

Glycogen storage disease, type VI

Criteria Provided
Single Submitter

rs_774646420

1 SubmittersRCV001390321

NM_002863.5(PYGL):c.1981A>G (p.Thr661Ala)

SNV
Germline

Chr14:50910091

Conflicting classifications of pathogenicity

Glycogen storage disease, type VI
Condition: not provided
PYGL-related disorder

Criteria Provided
Conflicting Classifications

rs_142483613

3 SubmittersRCV001427807 RCV002261362 RCV004753319

NM_005609.4(PYGM):c.1881C>T (p.Ile627=)

SNV
Germline

Chr11:64751413

Conflicting classifications of pathogenicity

Glycogen storage disease, type V
PYGM-related disorder

Criteria Provided
Conflicting Classifications

rs_369361532

3 SubmittersRCV001459982 RCV003938822

NM_005609.4(PYGM):c.110A>G (p.His37Arg)

SNV
Germline

Chr11:64759789

Likely pathogenic

Glycogen storage disease, type V

No Assertion Criteria Provided

rs_1170598133

1 SubmittersRCV001542478

NM_000289.6(PFKM):c.639-10C>G

SNV
Germline

Chr12:48134711

Conflicting classifications of pathogenicity

Condition: not provided
Glycogen storage disease, type VII

Criteria Provided
Conflicting Classifications

rs_2135915213

2 SubmittersRCV001761278 RCV003600417

NM_005609.4(PYGM):c.1774A>T (p.Lys592Ter)

SNV
Germline

Chr11:64751650

Pathogenic

Glycogen storage disease, type V

Criteria Provided
Single Submitter

rs_2135830163

1 SubmittersRCV001784893

NM_005609.4(PYGM):c.1239+1G>T

SNV
Germline

Chr11:64753878

Likely pathogenic

Glycogen storage disease, type V

Criteria Provided
Single Submitter

rs_759657964

1 SubmittersRCV001783654

NM_005609.4(PYGM):c.1620+1G>A

SNV
Germline

Chr11:64752402

Likely pathogenic

Glycogen storage disease, type V

Criteria Provided
Multiple Submitters
No Conflicts

rs_1256894448

2 SubmittersRCV001783655

NM_005609.4(PYGM):c.1709G>A (p.Arg570Gln)

SNV
Germline

Chr11:64751983

Pathogenic/Likely pathogenic

Glycogen storage disease, type V

Criteria Provided
Multiple Submitters
No Conflicts

rs_143550601

2 SubmittersRCV002046146

NM_005609.4(PYGM):c.1009C>T (p.Gln337Ter)

SNV
Germline

Chr11:64754336

Pathogenic

Glycogen storage disease, type V

Criteria Provided
Single Submitter

rs_2135834746

1 SubmittersRCV001941724

NM_005609.4(PYGM):c.1828-2A>G

SNV
Germline

Chr11:64751468

Likely pathogenic

Glycogen storage disease, type V

Criteria Provided
Single Submitter

rs_2135829883

1 SubmittersRCV001963967

NM_005609.4(PYGM):c.1519-1G>A

SNV
Germline

Chr11:64752505

Likely pathogenic

Glycogen storage disease, type V

Criteria Provided
Single Submitter

rs_2135831491

1 SubmittersRCV002019558

NM_002863.5(PYGL):c.743G>A (p.Arg248Gln)

SNV
Germline

Chr14:50920985

Conflicting classifications of pathogenicity

Glycogen storage disease, type VI
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_776101957

2 SubmittersRCV001943603 RCV004044075

NM_005609.4(PYGM):c.734G>A (p.Trp245Ter)

SNV
Germline

Chr11:64755485

Pathogenic

Glycogen storage disease, type V

Criteria Provided
Single Submitter

rs_2135836483

1 SubmittersRCV001993352

NM_000289.6(PFKM):c.237+1G>C

SNV
Germline

Chr12:48131394

Pathogenic

Glycogen storage disease, type VII

Criteria Provided
Single Submitter

rs_202143236

1 SubmittersRCV002002423

NM_005609.4(PYGM):c.569G>A (p.Trp190Ter)

SNV
Germline

Chr11:64757870

Pathogenic

Glycogen storage disease, type V

Criteria Provided
Single Submitter

rs_2135839308

1 SubmittersRCV002002518

NM_005609.4(PYGM):c.2177+1G>A

SNV
Germline

Chr11:64750375

Likely pathogenic

Glycogen storage disease, type V

Criteria Provided
Multiple Submitters
No Conflicts

rs_751875471

3 SubmittersRCV001968726

NM_000289.6(PFKM):c.1294C>T (p.Arg432Ter)

SNV
Germline

Chr12:48140824

Pathogenic/Likely pathogenic

Glycogen storage disease, type VII

Criteria Provided
Multiple Submitters
No Conflicts

rs_41291965

2 SubmittersRCV001906465

NM_000289.6(PFKM):c.736C>T (p.Arg246Ter)

SNV
Germline

Chr12:48134818

Pathogenic/Likely pathogenic

Glycogen storage disease, type VII

Criteria Provided
Multiple Submitters
No Conflicts

rs_866904446

2 SubmittersRCV001939132

NM_005609.4(PYGM):c.549G>A (p.Trp183Ter)

SNV
Germline

Chr11:64757890

Pathogenic/Likely pathogenic

Glycogen storage disease, type V

Criteria Provided
Multiple Submitters
No Conflicts

rs_1223885403

3 SubmittersRCV001937863

NM_000289.6(PFKM):c.1062+2T>C

SNV
Germline

Chr12:48137848

Likely pathogenic

Glycogen storage disease, type VII

Criteria Provided
Single Submitter

rs_2135957798

1 SubmittersRCV001983899

NM_005609.4(PYGM):c.1804C>T (p.Arg602Trp)

SNV
Germline

Chr11:64751620

Pathogenic/Likely pathogenic

Glycogen storage disease, type V
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_750195683

4 SubmittersRCV003089156 RCV004700693

NM_002863.5(PYGL):c.1404-1G>A

SNV
Germline

Chr14:50914816

Pathogenic

Glycogen storage disease, type VI

Criteria Provided
Single Submitter

rs_750567664

1 SubmittersRCV002250285

NM_005609.4(PYGM):c.1363G>A (p.Gly455Ser)

SNV
Germline

Chr11:64753559

Conflicting classifications of pathogenicity

Condition: not provided
Glycogen storage disease, type V

Criteria Provided
Conflicting Classifications

rs_201042910

3 SubmittersRCV002251610 RCV003094092

NM_000289.6(PFKM):c.867T>A (p.Tyr289Ter)

SNV
Unknown

Chr12:48135314

Likely pathogenic

Glycogen storage disease, type VII

Criteria Provided
Single Submitter

1 SubmittersRCV002306819

NM_000289.6(PFKM):c.1459A>T (p.Lys487Ter)

SNV
Unknown

Chr12:48141786

Likely pathogenic

Glycogen storage disease, type VII

Criteria Provided
Single Submitter

1 SubmittersRCV002309600

NM_000289.6(PFKM):c.1358G>A (p.Trp453Ter)

SNV
Unknown

Chr12:48141327

Likely pathogenic

Glycogen storage disease, type VII

Criteria Provided
Single Submitter

1 SubmittersRCV002309642

NM_000289.6(PFKM):c.1199C>A (p.Ser400Ter)

SNV
Unknown

Chr12:48140729

Likely pathogenic

Glycogen storage disease, type VII

Criteria Provided
Single Submitter

1 SubmittersRCV002308102

NM_000289.6(PFKM):c.1321G>T (p.Glu441Ter)

SNV
Germline

Chr12:48140851

Pathogenic/Likely pathogenic

Glycogen storage disease, type VII

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002309296

NM_000289.6(PFKM):c.1145G>A (p.Trp382Ter)

SNV
Unknown

Chr12:48139866

Likely pathogenic

Glycogen storage disease, type VII

Criteria Provided
Single Submitter

1 SubmittersRCV002306908

NM_000289.6(PFKM):c.184G>T (p.Gly62Ter)

SNV
Unknown

Chr12:48131340

Likely pathogenic

Glycogen storage disease, type VII

Criteria Provided
Single Submitter

1 SubmittersRCV002310337

NM_000289.6(PFKM):c.1905T>A (p.Tyr635Ter)

SNV
Unknown

Chr12:48144070

Likely pathogenic

Glycogen storage disease, type VII

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002310548

NM_002863.5(PYGL):c.1820G>T (p.Gly607Val)

SNV
Germline

Chr14:50911985

Likely pathogenic

Glycogen storage disease, type VI

Criteria Provided
Single Submitter

1 SubmittersRCV002444366

NM_002863.5(PYGL):c.2084G>A (p.Gly695Glu)

SNV
Germline

Chr14:50909988

Likely pathogenic

Glycogen storage disease, type VI

Criteria Provided
Single Submitter

1 SubmittersRCV002444368

NM_002863.5(PYGL):c.2483T>G (p.Val828Gly)

SNV
Germline

Chr14:50905453

Likely pathogenic

Glycogen storage disease, type VI

Criteria Provided
Single Submitter

1 SubmittersRCV002444369

NM_002863.5(PYGL):c.472T>C (p.Tyr158His)

SNV
Germline

Chr14:50931729

Likely pathogenic

Glycogen storage disease, type VI

Criteria Provided
Single Submitter

1 SubmittersRCV002444370

NM_000289.6(PFKM):c.116G>A (p.Arg39Gln)

SNV
Germline

Chr12:48130393

Likely pathogenic

Glycogen storage disease, type VII
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV003062509 RCV004790329

NM_005609.4(PYGM):c.2312+19G>A

SNV
Germline

Chr11:64747205

Conflicting classifications of pathogenicity

Glycogen storage disease, type V
not specified

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003051111 RCV003324067

NM_005609.4(PYGM):c.1769G>A (p.Arg590His)

SNV
Germline

Chr11:64751655

Conflicting classifications of pathogenicity

Glycogen storage disease, type V

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003062396

NM_005609.4(PYGM):c.1469G>A (p.Arg490Gln)

SNV
Germline

Chr11:64753122

Pathogenic

Glycogen storage disease, type V

Criteria Provided
Single Submitter

1 SubmittersRCV003058322

NM_005609.4(PYGM):c.614G>A (p.Gly205Asp)

SNV
Germline

Chr11:64757825

Conflicting classifications of pathogenicity

Glycogen storage disease, type V

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003062398

NM_000289.6(PFKM):c.1062+1G>A

SNV
Germline

Chr12:48137847

Likely pathogenic

Glycogen storage disease, type VII

Criteria Provided
Single Submitter

1 SubmittersRCV003077821

NM_000289.6(PFKM):c.1807C>T (p.Arg603Ter)

SNV
Germline

Chr12:48142935

Pathogenic/Likely pathogenic

Glycogen storage disease, type VII

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002633476

NM_000289.6(PFKM):c.1412+1G>T

SNV
Germline

Chr12:48141382

Likely pathogenic

Glycogen storage disease, type VII

Criteria Provided
Single Submitter

1 SubmittersRCV003115091

NM_005609.4(PYGM):c.403G>C (p.Gly135Arg)

SNV
Germline

Chr11:64758458

Pathogenic

Glycogen storage disease, type V

Criteria Provided
Single Submitter

1 SubmittersRCV002580223

NM_002863.5(PYGL):c.1475G>A (p.Trp492Ter)

SNV
Germline

Chr14:50914744

Pathogenic

Glycogen storage disease, type VI

Criteria Provided
Single Submitter

1 SubmittersRCV002657862

NM_005609.4(PYGM):c.772+1G>T

SNV
Germline

Chr11:64755446

Pathogenic

Glycogen storage disease, type V

Criteria Provided
Single Submitter

1 SubmittersRCV002705561

NM_005609.4(PYGM):c.1969+1G>A

SNV
Germline

Chr11:64751324

Likely pathogenic

Glycogen storage disease, type V

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002751300

NM_005609.4(PYGM):c.2216T>C (p.Leu739Pro)

SNV
Germline

Chr11:64747320

Conflicting classifications of pathogenicity

Rhabdomyolysis
Glycogen storage disease, type V
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_370144967

3 SubmittersRCV003409926 RCV002800114 RCV004958759

NM_002863.5(PYGL):c.647G>A (p.Trp216Ter)

SNV
Germline

Chr14:50923982

Pathogenic

Glycogen storage disease, type VI

Criteria Provided
Single Submitter

1 SubmittersRCV002805725

NM_002863.5(PYGL):c.514C>T (p.Arg172Ter)

SNV
Germline

Chr14:50931687

Pathogenic

Glycogen storage disease, type VI

Criteria Provided
Single Submitter

1 SubmittersRCV002790488

NM_000289.6(PFKM):c.1057C>T (p.Gln353Ter)

SNV
Germline

Chr12:48137841

Pathogenic

Glycogen storage disease, type VII

Criteria Provided
Single Submitter

1 SubmittersRCV002844028

NM_000289.6(PFKM):c.1192-2A>G

SNV
Germline

Chr12:48140720

Likely pathogenic

Glycogen storage disease, type VII

Criteria Provided
Single Submitter

1 SubmittersRCV002857659

NM_002863.5(PYGL):c.2197T>C (p.Tyr733His)

SNV
Germline

Chr14:50908936

Conflicting classifications of pathogenicity

Glycogen storage disease, type VI

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002928340

NM_000289.6(PFKM):c.1341+1G>C

SNV
Germline

Chr12:48140872

Likely pathogenic

Glycogen storage disease, type VII

Criteria Provided
Single Submitter

1 SubmittersRCV002949644

NM_002863.5(PYGL):c.2062C>G (p.Leu688Val)

SNV
Germline

Chr14:50910010

Conflicting classifications of pathogenicity

Glycogen storage disease, type VI
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002979561 RCV004065256

NM_005609.4(PYGM):c.1267G>A (p.Val423Ile)

SNV
Germline

Chr11:64753655

Conflicting classifications of pathogenicity

Glycogen storage disease, type V

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002963093

NM_005609.4(PYGM):c.1970-2A>C

SNV
Germline

Chr11:64750585

Likely pathogenic

Glycogen storage disease, type V

Criteria Provided
Single Submitter

1 SubmittersRCV002988528

NM_000289.6(PFKM):c.936+2T>G

SNV
Germline

Chr12:48135385

Likely pathogenic

Glycogen storage disease, type VII

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003045184

NM_005609.4(PYGM):c.228T>A (p.Tyr76Ter)

SNV
Germline

Chr11:64759671

Pathogenic

Glycogen storage disease, type V

Criteria Provided
Single Submitter

1 SubmittersRCV003045214

NM_005609.4(PYGM):c.648G>A (p.Trp216Ter)

SNV
Germline

Chr11:64757791

Pathogenic

Glycogen storage disease, type V

Criteria Provided
Single Submitter

1 SubmittersRCV003034713

NM_005609.4(PYGM):c.2380-2A>G

SNV
Germline

Chr11:64746810

Likely pathogenic

Glycogen storage disease, type V

Criteria Provided
Single Submitter

1 SubmittersRCV003049784

NM_002863.5(PYGL):c.361G>T (p.Glu121Ter)

SNV
Germline

Chr14:50935170

Likely pathogenic

Glycogen storage disease, type VI

Criteria Provided
Single Submitter

1 SubmittersRCV003133740

NM_000289.6(PFKM):c.238-3A>G

SNV
Germline

Chr12:48132865

Likely pathogenic

Glycogen storage disease, type VII

Criteria Provided
Multiple Submitters
No Conflicts

4 SubmittersRCV003134804

NM_005609.4(PYGM):c.247A>T (p.Ile83Phe)

SNV
Germline

Chr11:64758701

Conflicting classifications of pathogenicity

Glycogen storage disease, type V

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003130371

NM_002863.5(PYGL):c.916C>T (p.Gln306Ter)

SNV
Germline

Chr14:50917045

Likely pathogenic

Glycogen storage disease, type VI

Criteria Provided
Single Submitter

1 SubmittersRCV003340711

NM_002863.5(PYGL):c.528+1G>A

SNV
Germline

Chr14:50931672

Pathogenic

Glycogen storage disease, type VI

Criteria Provided
Single Submitter

1 SubmittersRCV003388773

NM_005609.4(PYGM):c.1468C>T (p.Arg490Trp)

SNV
Germline

Chr11:64753123

Conflicting classifications of pathogenicity

PYGM-related disorder
Glycogen storage disease, type V
not specified

Criteria Provided
Conflicting Classifications

4 SubmittersRCV003412504 RCV003459860 RCV004765835

NM_002863.5(PYGL):c.1722C>A (p.Tyr574Ter)

SNV
Germline

Chr14:50912202

Likely pathogenic

Glycogen storage disease, type VI

Criteria Provided
Single Submitter

1 SubmittersRCV003445311

NM_005609.4(PYGM):c.735G>A (p.Trp245Ter)

SNV
Unknown

Chr11:64755484

Likely pathogenic

Glycogen storage disease, type V

Criteria Provided
Single Submitter

1 SubmittersRCV003471758

NM_005609.4(PYGM):c.1045G>A (p.Glu349Lys)

SNV
Germline

Chr11:64754300

Pathogenic

Glycogen storage disease, type V

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003463411

NM_005609.4(PYGM):c.2177+1G>T

SNV
Germline

Chr11:64750375

Likely pathogenic

Glycogen storage disease, type V

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003463413

NM_005609.4(PYGM):c.1979C>A (p.Ala660Asp)

SNV
Unknown

Chr11:64750574

Likely pathogenic

Glycogen storage disease, type V

Criteria Provided
Single Submitter

1 SubmittersRCV003471759

NM_005609.4(PYGM):c.1828-1G>T

SNV
Unknown

Chr11:64751467

Likely pathogenic

Glycogen storage disease, type V

Criteria Provided
Single Submitter

1 SubmittersRCV003471760

NM_005609.4(PYGM):c.772+2T>A

SNV
Unknown

Chr11:64755445

Likely pathogenic

Glycogen storage disease, type V

Criteria Provided
Single Submitter

1 SubmittersRCV003463414

NM_005609.4(PYGM):c.1093-2A>T

SNV
Unknown

Chr11:64754027

Likely pathogenic

Glycogen storage disease, type V

Criteria Provided
Single Submitter

1 SubmittersRCV003463415

NM_005609.4(PYGM):c.1475G>A (p.Trp492Ter)

SNV
Unknown

Chr11:64753116

Pathogenic

Glycogen storage disease, type V

Criteria Provided
Single Submitter

1 SubmittersRCV003471761

NM_005609.4(PYGM):c.889G>T (p.Glu297Ter)

SNV
Unknown

Chr11:64754803

Likely pathogenic

Glycogen storage disease, type V

Criteria Provided
Single Submitter

1 SubmittersRCV003463416

NM_005609.4(PYGM):c.1969+1G>C

SNV
Unknown

Chr11:64751324

Likely pathogenic

Glycogen storage disease, type V

Criteria Provided
Single Submitter

1 SubmittersRCV003463419

NM_005609.4(PYGM):c.2313-1G>A

SNV
Unknown

Chr11:64746988

Likely pathogenic

Glycogen storage disease, type V

Criteria Provided
Single Submitter

1 SubmittersRCV003463423

NM_005609.4(PYGM):c.2379+1G>A

SNV
Unknown

Chr11:64746920

Likely pathogenic

Glycogen storage disease, type V

Criteria Provided
Single Submitter

1 SubmittersRCV003463425

NM_005609.4(PYGM):c.1010A>G (p.Gln337Arg)

SNV
Germline

Chr11:64754335

Pathogenic

Glycogen storage disease, type V

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003471763

NM_005609.4(PYGM):c.505C>T (p.Gln169Ter)

SNV
Germline

Chr11:64758269

Pathogenic

Glycogen storage disease, type V

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003463427

NM_005609.4(PYGM):c.999+1G>A

SNV
Unknown

Chr11:64754692

Likely pathogenic

Glycogen storage disease, type V

Criteria Provided
Single Submitter

1 SubmittersRCV003471765

NM_005609.4(PYGM):c.1828-1G>A

SNV
Unknown

Chr11:64751467

Likely pathogenic

Glycogen storage disease, type V

Criteria Provided
Single Submitter

1 SubmittersRCV003471766

NM_000289.6(PFKM):c.86-1G>C

SNV
Unknown

Chr12:48130362

Likely pathogenic

Glycogen storage disease, type VII

Criteria Provided
Single Submitter

1 SubmittersRCV003476869

NM_000289.6(PFKM):c.1341+1G>A

SNV
Unknown

Chr12:48140872

Likely pathogenic

Glycogen storage disease, type VII

Criteria Provided
Single Submitter

1 SubmittersRCV003476871

NM_000289.6(PFKM):c.160-1G>C

SNV
Unknown

Chr12:48131315

Likely pathogenic

Glycogen storage disease, type VII

Criteria Provided
Single Submitter

1 SubmittersRCV003472431

NM_000289.6(PFKM):c.-8-2A>G

SNV
Unknown

Chr12:48122765

Likely pathogenic

Glycogen storage disease, type VII

Criteria Provided
Single Submitter

1 SubmittersRCV003472432

NM_000289.6(PFKM):c.395G>A (p.Trp132Ter)

SNV
Unknown

Chr12:48133025

Likely pathogenic

Glycogen storage disease, type VII

Criteria Provided
Single Submitter

1 SubmittersRCV003472433

NM_000289.6(PFKM):c.811G>T (p.Gly271Ter)

SNV
Unknown

Chr12:48135006

Likely pathogenic

Glycogen storage disease, type VII

Criteria Provided
Single Submitter

1 SubmittersRCV003472435

NM_000289.6(PFKM):c.539C>G (p.Ser180Cys)

SNV
Unknown

Chr12:48133426

Likely pathogenic

Glycogen storage disease, type VII

Criteria Provided
Single Submitter

1 SubmittersRCV003472436

NM_000289.6(PFKM):c.1500+2T>A

SNV
Unknown

Chr12:48141829

Likely pathogenic

Glycogen storage disease, type VII

Criteria Provided
Single Submitter

1 SubmittersRCV003472437

NM_005609.4(PYGM):c.3G>A (p.Met1Ile)

SNV
Germline

Chr11:64759896

Pathogenic

Glycogen storage disease, type V

Criteria Provided
Single Submitter

1 SubmittersRCV003498270

NM_000289.6(PFKM):c.1426A>T (p.Lys476Ter)

SNV
Germline

Chr12:48141753

Pathogenic

Glycogen storage disease, type VII

Criteria Provided
Single Submitter

1 SubmittersRCV003496212

NM_005609.4(PYGM):c.424+1G>T

SNV
Germline

Chr11:64758436

Likely pathogenic

Glycogen storage disease, type V

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003499518

NM_000289.6(PFKM):c.1772A>C (p.Asp591Ala)

SNV
Germline

Chr12:48142900

Likely pathogenic

Glycogen storage disease, type VII

Criteria Provided
Single Submitter

1 SubmittersRCV003494673

NM_005609.4(PYGM):c.1363G>C (p.Gly455Arg)

SNV
Germline

Chr11:64753559

Likely pathogenic

Glycogen storage disease, type V

Criteria Provided
Single Submitter

1 SubmittersRCV003499971

NM_005609.4(PYGM):c.470G>T (p.Gly157Val)

SNV
Germline

Chr11:64758304

Likely pathogenic

Glycogen storage disease, type V

Criteria Provided
Single Submitter

1 SubmittersRCV003499973

NM_005609.4(PYGM):c.424+1G>A

SNV
Germline

Chr11:64758436

Likely pathogenic

Glycogen storage disease, type V

Criteria Provided
Single Submitter

1 SubmittersRCV003498403

NM_002863.5(PYGL):c.1228A>T (p.Lys410Ter)

SNV
Germline

Chr14:50915836

Pathogenic

Glycogen storage disease, type VI

Criteria Provided
Single Submitter

1 SubmittersRCV003625259

NM_000289.6(PFKM):c.1653+2T>G

SNV
Germline

Chr12:48142068

Likely pathogenic

Glycogen storage disease, type VII

Criteria Provided
Single Submitter

1 SubmittersRCV003601518

NM_000289.6(PFKM):c.589C>T (p.Gln197Ter)

SNV
Germline

Chr12:48133476

Pathogenic

Glycogen storage disease, type VII

Criteria Provided
Single Submitter

1 SubmittersRCV003601741

NM_005609.4(PYGM):c.1469G>C (p.Arg490Pro)

SNV
Germline

Chr11:64753122

Likely pathogenic

Glycogen storage disease, type V

Criteria Provided
Single Submitter

1 SubmittersRCV003604307

NM_000289.6(PFKM):c.1342-1G>C

SNV
Germline

Chr12:48141310

Likely pathogenic

Glycogen storage disease, type VII

Criteria Provided
Single Submitter

1 SubmittersRCV003601670

NM_000289.6(PFKM):c.594-1G>A

SNV
Germline

Chr12:48134231

Likely pathogenic

Glycogen storage disease, type VII

Criteria Provided
Single Submitter

1 SubmittersRCV003602197

NM_005609.4(PYGM):c.1620+1G>T

SNV
Germline

Chr11:64752402

Likely pathogenic

Glycogen storage disease, type V

Criteria Provided
Single Submitter

1 SubmittersRCV003604446

NM_000289.6(PFKM):c.1992+1G>T

SNV
Germline

Chr12:48144158

Likely pathogenic

Glycogen storage disease, type VII

Criteria Provided
Single Submitter

1 SubmittersRCV003602342

NM_005609.4(PYGM):c.2057G>A (p.Gly686Glu)

SNV
Germline

Chr11:64750496

Likely pathogenic

Glycogen storage disease, type V

Criteria Provided
Single Submitter

1 SubmittersRCV003604849

NM_005609.4(PYGM):c.528+1G>T

SNV
Germline

Chr11:64758245

Likely pathogenic

Glycogen storage disease, type V

Criteria Provided
Single Submitter

1 SubmittersRCV003602547

NM_005609.4(PYGM):c.558C>G (p.Tyr186Ter)

SNV
Germline

Chr11:64757881

Pathogenic

Glycogen storage disease, type V

Criteria Provided
Single Submitter

1 SubmittersRCV003602569

NM_000289.6(PFKM):c.1128-2A>G

SNV
Germline

Chr12:48139847

Likely pathogenic

Glycogen storage disease, type VII

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003600010

NM_000289.6(PFKM):c.638+1G>T

SNV
Germline

Chr12:48134277

Likely pathogenic

Glycogen storage disease, type VII

Criteria Provided
Single Submitter

1 SubmittersRCV003600192

NM_002863.5(PYGL):c.1970-7C>G

SNV
Germline

Chr14:50910109

Conflicting classifications of pathogenicity

Glycogen storage disease, type VI

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003624160

NM_005609.4(PYGM):c.415C>G (p.Arg139Gly)

SNV
Germline

Chr11:64758446

Likely pathogenic

Glycogen storage disease, type V

Criteria Provided
Single Submitter

1 SubmittersRCV003602843

NM_000289.6(PFKM):c.2092+2T>C

SNV
Germline

Chr12:48145132

Likely pathogenic

Glycogen storage disease, type VII

Criteria Provided
Single Submitter

1 SubmittersRCV003600921

NM_005609.4(PYGM):c.658C>T (p.Gln220Ter)

SNV
Germline

Chr11:64757781

Pathogenic/Likely pathogenic

Glycogen storage disease, type V

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003836283

NM_005609.4(PYGM):c.1996C>T (p.Gln666Ter)

SNV
Germline

Chr11:64750557

Pathogenic

Glycogen storage disease, type V

Criteria Provided
Single Submitter

1 SubmittersRCV003851037

NM_005609.4(PYGM):c.2083G>T (p.Gly695Trp)

SNV
Germline

Chr11:64750470

Likely pathogenic

Glycogen storage disease, type V

Criteria Provided
Single Submitter

1 SubmittersRCV003861695

NM_000289.6(PFKM):c.1412+2T>C

SNV
Germline

Chr12:48141383

Likely pathogenic

Glycogen storage disease, type VII

Criteria Provided
Single Submitter

1 SubmittersRCV003853737

NM_002863.5(PYGL):c.1240-2A>G

SNV
Germline

Chr14:50915501

Likely pathogenic

Glycogen storage disease, type VI

Criteria Provided
Single Submitter

1 SubmittersRCV003989191

NM_000289.6(PFKM):c.85+1G>A

SNV
Unknown

Chr12:48122860

Likely pathogenic

Glycogen storage disease, type VII

Criteria Provided
Single Submitter

1 SubmittersRCV004574526

NM_000289.6(PFKM):c.166C>T (p.Gln56Ter)

SNV
Unknown

Chr12:48131322

Likely pathogenic

Glycogen storage disease, type VII

Criteria Provided
Single Submitter

1 SubmittersRCV004574527

NM_005609.4(PYGM):c.1098G>A (p.Trp366Ter)

SNV
Unknown

Chr11:64754020

Pathogenic

Glycogen storage disease, type V

Criteria Provided
Single Submitter

1 SubmittersRCV004574655

NM_005609.4(PYGM):c.2181C>G (p.Tyr727Ter)

SNV
Unknown

Chr11:64747355

Likely pathogenic

Glycogen storage disease, type V

Criteria Provided
Single Submitter

1 SubmittersRCV004574657

NM_005609.4(PYGM):c.1093-1G>C

SNV
Unknown

Chr11:64754026

Likely pathogenic

Glycogen storage disease, type V

Criteria Provided
Single Submitter

1 SubmittersRCV004574662

NM_005609.4(PYGM):c.2356G>T (p.Glu786Ter)

SNV
Unknown

Chr11:64746944

Likely pathogenic

Glycogen storage disease, type V

Criteria Provided
Single Submitter

1 SubmittersRCV004574665

NM_005609.4(PYGM):c.613G>T (p.Gly205Cys)

SNV
Germline

Chr11:64757826

Likely pathogenic

Glycogen storage disease, type V

Criteria Provided
Single Submitter

1 SubmittersRCV004764489

NM_000289.6(PFKM):c.626G>A (p.Gly209Asp)

SNV
Germline

Chr12:48134264

Likely pathogenic

Glycogen storage disease, type VII

Criteria Provided
Single Submitter

1 SubmittersRCV004782090

NM_002863.5(PYGL):c.730C>T (p.Leu244Phe)

SNV
Germline

Chr14:50920998

Pathogenic

Glycogen storage disease, type VI

Criteria Provided
Single Submitter

1 SubmittersRCV004800850

NM_005609.4(PYGM):c.1519-3T>G

SNV
Germline

Chr11:64752507

Likely pathogenic

Glycogen storage disease, type V

Criteria Provided
Single Submitter

1 SubmittersRCV004810738