Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_000152.5(GAA):c.953T>C (p.Met318Thr)	SNV Germline	Chr17:80107894	Pathogenic	Condition: not provided Glycogen storage disease, type II	Reviewed By Expert Panel	CA116590	rs_121907936	13 SubmittersRCV000727662 RCV000780268
NM_000152.5(GAA):c.1561G>A (p.Glu521Lys)	SNV Germline	Chr17:80110950	Pathogenic	Glycogen storage disease, type II Condition: not provided	Reviewed By Expert Panel	CA116593	rs_121907937	11 SubmittersRCV000169465 RCV003137489
NM_000152.5(GAA):c.1927G>A (p.Gly643Arg)	SNV Germline	Chr17:80112914	Pathogenic	Glycogen storage disease, type II Condition: not provided Glycogen storage disease due to acid maltase deficiency, late-onset	Reviewed By Expert Panel	CA116596	rs_28937909	15 SubmittersRCV000409137 RCV000788193 RCV006262317
NM_000152.5(GAA):c.2173C>T (p.Arg725Trp)	SNV Germline	Chr17:80113350	Pathogenic	Glycogen storage disease, type II Condition: not provided Glycogen storage disease due to acid maltase deficiency, late-onset	Reviewed By Expert Panel	CA116598	rs_121907938	11 SubmittersRCV000169045 RCV001569366 RCV006262318
NM_000152.5(GAA):c.896T>G (p.Leu299Arg)	SNV Germline	Chr17:80107837	Likely pathogenic	Glycogen storage disease, type II	Reviewed By Expert Panel	CA116601	rs_121907940	3 SubmittersRCV000795023
NM_000152.5(GAA):c.-32-13T>G	SNV Germline	Chr17:80104542	Pathogenic	Glycogen storage disease, type II Condition: not provided Myopathy Glycogen storage disease, type IV Glycogen storage disease due to acid maltase deficiency, late-onset GAA-related disorder Cardiovascular phenotype See cases Uterine corpus endometrial carcinoma Ovarian serous cystadenocarcinoma Thymoma Malignant tumor of esophagus Cervical cancer Glycogen storage disease Sarcoma	Reviewed By Expert Panel	CA116606	rs_386834236	60 SubmittersRCV000055770 RCV000153285 RCV000626740 RCV002288463 RCV002225068 RCV003415646 RCV002321471 RCV004797752 RCV005887289 RCV005887287 RCV005887288 RCV005887284 RCV005887285 RCV005638398 RCV005887286
NM_000152.5(GAA):c.1935C>A (p.Asp645Glu)	SNV Germline	Chr17:80112922	Pathogenic	Glycogen storage disease, type II Condition: not provided Cardiovascular phenotype GAA-related disorder	Reviewed By Expert Panel	CA116610	rs_28940868	16 SubmittersRCV000055768 RCV001785448 RCV004018551 RCV004751197
NM_000152.5(GAA):c.1634C>T (p.Pro545Leu)	SNV Germline	Chr17:80111023	Pathogenic	Glycogen storage disease, type II Condition: not provided Glycogen storage disease due to acid maltase deficiency, late-onset	Criteria Provided Multiple Submitters No Conflicts	CA116616	rs_121907942	7 SubmittersRCV001174962 RCV001785449 RCV006262320
NM_000152.5(GAA):c.2560C>T (p.Arg854Ter)	SNV Germline	Chr17:80118271	Pathogenic	Glycogen storage disease, type II Condition: not provided GAA-related disorder Cardiovascular phenotype Glycogen storage disease due to acid maltase deficiency, late-onset	Reviewed By Expert Panel	CA340130	rs_121907943	29 SubmittersRCV000004249 RCV000255539 RCV003904805 RCV004991965 RCV006263618
NM_000152.5(GAA):c.877G>A (p.Gly293Arg)	SNV Germline	Chr17:80107818	Pathogenic	Glycogen storage disease, type II Condition: not provided Glycogen storage disease due to acid maltase deficiency, late-onset	Reviewed By Expert Panel	CA116622	rs_121907945	13 SubmittersRCV000578430 RCV000728952 RCV006262322
NM_000152.5(GAA):c.1465G>A (p.Asp489Asn)	SNV Germline	Chr17:80110754	Pathogenic	Glycogen storage disease, type II Condition: not provided	Reviewed By Expert Panel	CA220390	rs_398123169	10 SubmittersRCV000173646 RCV000790665
NM_000152.5(GAA):c.2105G>T (p.Arg702Leu)	SNV Germline	Chr17:80113282	Pathogenic	Condition: not provided Glycogen storage disease, type II	Reviewed By Expert Panel	CA220396	rs_398123172	6 SubmittersRCV000174831 RCV000792061
NM_000152.5(GAA):c.2512C>T (p.Gln838Ter)	SNV Germline	Chr17:80118223	Pathogenic	Condition: not provided Glycogen storage disease, type II	Reviewed By Expert Panel	CA220400	rs_369532274	7 SubmittersRCV000175263 RCV001200861
NM_000152.5(GAA):c.1841C>A (p.Thr614Lys)	SNV Germline	Chr17:80112664	Pathogenic	Glycogen storage disease, type II Condition: not provided	Reviewed By Expert Panel	CA234050	rs_369531647	14 SubmittersRCV000591376 RCV000723464
NM_000152.5(GAA):c.1219T>C (p.Tyr407His)	SNV Germline	Chr17:80108721	Conflicting classifications of pathogenicity	Condition: not provided Glycogen storage disease, type II	Criteria Provided Conflicting Classifications	CA234047	rs_727503939	5 SubmittersRCV000153288 RCV001326695
NM_000152.5(GAA):c.1004G>A (p.Gly335Glu)	SNV Germline	Chr17:80108338	Likely pathogenic	Glycogen storage disease, type II Condition: not provided	Reviewed By Expert Panel	CA273683	rs_730880022	5 SubmittersRCV000156939 RCV001579766
NM_000152.5(GAA):c.896T>C (p.Leu299Pro)	SNV Germline	Chr17:80107837	Pathogenic	Glycogen storage disease, type II Condition: not provided	Reviewed By Expert Panel	CA273686	rs_121907940	9 SubmittersRCV000156941 RCV001310382
NM_000152.5(GAA):c.1437G>A (p.Lys479=)	SNV Germline	Chr17:80110055	Likely pathogenic	Glycogen storage disease, type II	Criteria Provided Single Submitter	CA275914	rs_796051877	2 SubmittersRCV000186551
NM_000152.5(GAA):c.915G>A (p.Gly305=)	SNV Germline	Chr17:80107856	Conflicting classifications of pathogenicity	Condition: not provided Glycogen storage disease, type II Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA198779	rs_150343359	11 SubmittersRCV000723389 RCV001079201 RCV002372058
NM_000152.5(GAA):c.2237G>C (p.Trp746Ser)	SNV Germline	Chr17:80117015	Likely pathogenic	Glycogen storage disease, type II Condition: not provided	Reviewed By Expert Panel	CA198797	rs_752921215	13 SubmittersRCV000626060 RCV001781520
NM_000152.5(GAA):c.1A>G (p.Met1Val)	SNV Germline	Chr17:80104587	Pathogenic	Glycogen storage disease, type II Condition: not provided	Reviewed By Expert Panel	CA273952	rs_786204467	7 SubmittersRCV000169114 RCV005632279
NM_000152.5(GAA):c.172C>T (p.Gln58Ter)	SNV Germline	Chr17:80104758	Pathogenic	Glycogen storage disease, type II	Reviewed By Expert Panel	CA274104	rs_201185475	4 SubmittersRCV000169263
NM_000152.5(GAA):c.343C>T (p.Gln115Ter)	SNV Germline	Chr17:80104929	Pathogenic	Glycogen storage disease, type II	Reviewed By Expert Panel	CA274228	rs_786204614	4 SubmittersRCV000169376
NM_000152.5(GAA):c.569G>A (p.Arg190His)	SNV Germline	Chr17:80105771	Pathogenic/Likely pathogenic	Glycogen storage disease, type II Condition: not provided Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA273988	rs_528367092	11 SubmittersRCV000169143 RCV003144146 RCV004020013
NM_000152.5(GAA):c.655G>A (p.Gly219Arg)	SNV Germline	Chr17:80105857	Pathogenic	Glycogen storage disease, type II Condition: not provided GAA-related disorder	Reviewed By Expert Panel	CA274334	rs_370950728	13 SubmittersRCV000169462 RCV000481943 RCV004751318
NM_000152.5(GAA):c.670C>T (p.Arg224Trp)	SNV Germline	Chr17:80105872	Pathogenic	Glycogen storage disease, type II Condition: not provided GAA-related disorder Cardiovascular phenotype	Reviewed By Expert Panel	CA274477	rs_757700700	17 SubmittersRCV000169620 RCV000272542 RCV004751320 RCV005562312
NM_000152.5(GAA):c.784G>A (p.Glu262Lys)	SNV Germline	Chr17:80107648	Pathogenic	Glycogen storage disease, type II Condition: not provided	Reviewed By Expert Panel	CA273984	rs_201896815	12 SubmittersRCV000169139 RCV000727645
NM_000152.5(GAA):c.925G>A (p.Gly309Arg)	SNV Germline	Chr17:80107866	Pathogenic	Glycogen storage disease, type II Condition: not provided	Reviewed By Expert Panel	CA273972	rs_543300039	19 SubmittersRCV000169127 RCV000723463
NM_000152.5(GAA):c.1156C>T (p.Gln386Ter)	SNV Germline	Chr17:80108569	Pathogenic	Glycogen storage disease, type II	Reviewed By Expert Panel	CA274049	rs_786204517	2 SubmittersRCV000169210
NM_000152.5(GAA):c.1309C>T (p.Arg437Cys)	SNV Germline	Chr17:80108811	Pathogenic	Glycogen storage disease, type II Condition: not provided	Reviewed By Expert Panel	CA274356	rs_770610356	13 SubmittersRCV000169488 RCV001781528
NM_000152.5(GAA):c.1438-1G>C	SNV Germline	Chr17:80110726	Pathogenic	Glycogen storage disease, type II Condition: not provided	Reviewed By Expert Panel	CA274472	rs_147804176	11 SubmittersRCV000169615 RCV000727411
NM_000152.5(GAA):c.1441T>C (p.Trp481Arg)	SNV Germline	Chr17:80110730	Pathogenic	Glycogen storage disease, type II Condition: not provided Cardiovascular phenotype	Reviewed By Expert Panel	CA274247	rs_772883420	15 SubmittersRCV000169391 RCV002223801 RCV005338091
NM_000152.5(GAA):c.1548G>A (p.Trp516Ter)	SNV Germline	Chr17:80110837	Pathogenic	Glycogen storage disease, type II Condition: not provided GAA-related disorder	Reviewed By Expert Panel	CA274281	rs_140826989	23 SubmittersRCV000169414 RCV000723388 RCV004751317
NM_000152.5(GAA):c.1556T>C (p.Met519Thr)	SNV Germline	Chr17:80110945	Pathogenic	Glycogen storage disease, type II Condition: not provided	Reviewed By Expert Panel	CA274402	rs_786204720	12 SubmittersRCV000169538 RCV000726790
NM_000152.5(GAA):c.1843G>A (p.Gly615Arg)	SNV Germline	Chr17:80112666	Likely pathogenic	Glycogen storage disease, type II Condition: not provided	Reviewed By Expert Panel	CA273955	rs_549029029	10 SubmittersRCV000169115 RCV001781521
NM_000152.5(GAA):c.1933G>A (p.Asp645Asn)	SNV Germline	Chr17:80112920	Pathogenic	Glycogen storage disease, type II Condition: not provided	Reviewed By Expert Panel	CA273892	rs_368438393	13 SubmittersRCV000169030 RCV000483035
NM_000152.5(GAA):c.1933G>C (p.Asp645His)	SNV Germline	Chr17:80112920	Pathogenic	Glycogen storage disease, type II Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA274256	rs_368438393	7 SubmittersRCV000169400 RCV003488416
NM_000152.5(GAA):c.1942G>A (p.Gly648Ser)	SNV Germline	Chr17:80112929	Pathogenic	Glycogen storage disease, type II Condition: not provided	Reviewed By Expert Panel	CA274102	rs_536906561	12 SubmittersRCV000169262 RCV001781523
NM_000152.5(GAA):c.1979G>A (p.Arg660His)	SNV Germline	Chr17:80112966	Pathogenic	Glycogen storage disease, type II Condition: not provided GAA-related disorder	Reviewed By Expert Panel	CA274455	rs_374143224	16 SubmittersRCV000169600 RCV000256037 RCV003895169
NM_000152.5(GAA):c.2014C>T (p.Arg672Trp)	SNV Germline	Chr17:80113001	Pathogenic	Glycogen storage disease, type II Condition: not provided	Reviewed By Expert Panel	CA273939	rs_757111744	11 SubmittersRCV000169099 RCV000725325
NM_000152.5(GAA):c.2104C>T (p.Arg702Cys)	SNV Germline	Chr17:80113281	Pathogenic	Glycogen storage disease, type II Condition: not provided	Reviewed By Expert Panel	CA274304	rs_786204645	13 SubmittersRCV000169431 RCV001090261
NM_000152.5(GAA):c.2608C>T (p.Arg870Ter)	SNV Germline	Chr17:80118319	Pathogenic	Glycogen storage disease, type II Condition: not provided	Reviewed By Expert Panel	CA274250	rs_780321415	17 SubmittersRCV000169394 RCV000723528
NM_000152.5(GAA):c.2646+2T>A	SNV Germline	Chr17:80118359	Likely pathogenic	Glycogen storage disease, type II Condition: not provided	Reviewed By Expert Panel	CA274134	rs_786204561	6 SubmittersRCV000169291 RCV001781525
NM_000152.5(GAA):c.1583G>C (p.Gly528Ala)	SNV Germline	Chr17:80110972	Likely pathogenic	Condition: not provided Glycogen storage disease, type II	Criteria Provided Multiple Submitters No Conflicts	CA239454	rs_794727016	3 SubmittersRCV000173980 RCV002516609
NM_000152.5(GAA):c.1802C>T (p.Ser601Leu)	SNV Germline	Chr17:80112625	Pathogenic	Condition: not provided Glycogen storage disease, type II	Reviewed By Expert Panel	CA274982	rs_374470794	12 SubmittersRCV000174449 RCV001242470
NM_000152.5(GAA):c.1889-5C>T	SNV Germline	Chr17:80112871	Conflicting classifications of pathogenicity	Condition: not provided Glycogen storage disease, type II	Criteria Provided Conflicting Classifications	CA240225	rs_794727115	4 SubmittersRCV000174661 RCV001128431
NM_000152.5(GAA):c.2156C>A (p.Ala719Glu)	SNV Germline	Chr17:80113333	Conflicting classifications of pathogenicity	Glycogen storage disease, type II Condition: not provided Cardiovascular phenotype GAA-related disorder	Criteria Provided Conflicting Classifications	CA240427	rs_146762316	11 SubmittersRCV000540247 RCV000657136 RCV005328220 RCV004751332
NM_000152.5(GAA):c.2157G>A (p.Ala719=)	SNV Germline	Chr17:80113334	Conflicting classifications of pathogenicity	Condition: not provided Glycogen storage disease, type II not specified Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA240430	rs_201523530	8 SubmittersRCV000724450 RCV001087616 RCV002265659 RCV002426832
NM_000152.5(GAA):c.2415G>A (p.Val805=)	SNV Germline	Chr17:80117683	Conflicting classifications of pathogenicity	Glycogen storage disease, type II Condition: not provided not specified Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA240812	rs_150536507	12 SubmittersRCV000390395 RCV000724845 RCV002222424 RCV002453612
NM_000152.5(GAA):c.2739C>G (p.Pro913=)	SNV Germline	Chr17:80118745	Conflicting classifications of pathogenicity	Condition: not provided Glycogen storage disease, type II Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA241130	rs_370765733	6 SubmittersRCV000175390 RCV001082677 RCV002433767
NM_000152.5(GAA):c.854C>G (p.Pro285Arg)	SNV Germline	Chr17:80107718	Likely pathogenic	Glycogen storage disease, type II Condition: not provided Cardiovascular phenotype	Reviewed By Expert Panel	CA358045	rs_764622267	6 SubmittersRCV000797884 RCV003488466 RCV004017497
NM_000152.5(GAA):c.32G>A (p.Arg11Gln)	SNV Germline	Chr17:80104618	Conflicting classifications of pathogenicity	not specified Glycogen storage disease, type II Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA8814760	rs_138812846	8 SubmittersRCV000250396 RCV000525907 RCV000724696 RCV004992133
NM_000152.5(GAA):c.876C>T (p.Tyr292=)	SNV Germline	Chr17:80107817	Conflicting classifications of pathogenicity	not specified Glycogen storage disease, type II Cardiovascular phenotype Condition: not provided	Criteria Provided Conflicting Classifications	CA8815080	rs_763216519	5 SubmittersRCV000248640 RCV000884808 RCV003298324 RCV003144176
NM_000152.5(GAA):c.1599C>T (p.Cys533=)	SNV Germline	Chr17:80110988	Conflicting classifications of pathogenicity	not specified Condition: not provided Glycogen storage disease, type II Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA8815389	rs_142766716	8 SubmittersRCV000242369 RCV000725491 RCV001088621 RCV002401952
NM_000152.5(GAA):c.2238G>C (p.Trp746Cys)	SNV Germline	Chr17:80117016	Pathogenic	Condition: not provided Glycogen storage disease, type II Glycogen storage disease GAA-related disorder Cardiovascular phenotype	Reviewed By Expert Panel	CA8815665	rs_1800312	29 SubmittersRCV000254988 RCV000283919 RCV000825562 RCV003920023 RCV004021024
NM_000152.5(GAA):c.1655T>C (p.Leu552Pro)	SNV Germline	Chr17:80112001	Pathogenic	Condition: not provided Glycogen storage disease, type II GAA-related disorder	Reviewed By Expert Panel	CA8815429	rs_779556619	20 SubmittersRCV000288533 RCV000381512 RCV004751411
NM_000152.5(GAA):c.2237G>A (p.Trp746Ter)	SNV Germline	Chr17:80117015	Pathogenic	Condition: not provided Glycogen storage disease, type II	Reviewed By Expert Panel	CA8815664	rs_752921215	12 SubmittersRCV000302789 RCV000501120
NM_000152.5(GAA):c.1912G>T (p.Gly638Trp)	SNV Germline	Chr17:80112899	Pathogenic	Condition: not provided Glycogen storage disease, type II	Reviewed By Expert Panel	CA8815545	rs_757617999	12 SubmittersRCV000333327 RCV001243631
NM_000152.5(GAA):c.546G>A (p.Thr182=)	SNV Germline	Chr17:80105132	Pathogenic	Glycogen storage disease, type II Condition: not provided Glycogen storage disease GAA-related disorder Clear cell carcinoma of kidney	Reviewed By Expert Panel	CA8814895	rs_143523371	19 SubmittersRCV000385549 RCV000723387 RCV004017580 RCV004751413 RCV005895485
NM_000152.5(GAA):c.853C>T (p.Pro285Ser)	SNV Germline	Chr17:80107717	Likely pathogenic	Glycogen storage disease, type II Condition: not provided	Reviewed By Expert Panel	CA10603793	rs_886042086	10 SubmittersRCV000383868 RCV000723486
NM_000152.5(GAA):c.546G>C (p.Thr182=)	SNV Germline	Chr17:80105132	Pathogenic	Condition: not provided Glycogen storage disease, type II	Reviewed By Expert Panel	CA10603795	rs_143523371	9 SubmittersRCV000361874 RCV001249018
NM_000152.5(GAA):c.693-4G>T	SNV Germline	Chr17:80107553	Conflicting classifications of pathogenicity	Condition: not provided Glycogen storage disease, type II Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA8814991	rs_200088236	12 SubmittersRCV000723555 RCV001079986 RCV006342202
NM_000152.5(GAA):c.2323C>A (p.Leu775Met)	SNV Germline	Chr17:80117101	Conflicting classifications of pathogenicity	Condition: not provided Glycogen storage disease, type II Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA8815687	rs_147290429	6 SubmittersRCV000331593 RCV000529044 RCV002450800
NM_000152.5(GAA):c.1425G>A (p.Pro475=)	SNV Germline	Chr17:80110043	Conflicting classifications of pathogenicity	Condition: not provided Glycogen storage disease, type II Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA8815315	rs_753140491	6 SubmittersRCV000387536 RCV001080587 RCV002392796
NM_000152.5(GAA):c.1947C>T (p.Phe649=)	SNV Germline	Chr17:80112934	Conflicting classifications of pathogenicity	Condition: not provided Glycogen storage disease, type II Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA8815555	rs_770248553	3 SubmittersRCV000342373 RCV002059104 RCV005562324
NM_000152.5(GAA):c.2391C>T (p.Ala797=)	SNV Germline	Chr17:80117659	Conflicting classifications of pathogenicity	Condition: not provided Glycogen storage disease, type II GAA-related disorder Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA8815724	rs_767494597	5 SubmittersRCV000276337 RCV001393526 RCV003982981 RCV003165725
NM_000152.5(GAA):c.705G>A (p.Thr235=)	SNV Germline	Chr17:80107569	Conflicting classifications of pathogenicity	Glycogen storage disease, type II Condition: not provided Cardiovascular phenotype not specified	Criteria Provided Conflicting Classifications	CA8814998	rs_2304846	10 SubmittersRCV000263169 RCV000396482 RCV002365303 RCV002509344
NM_000152.5(GAA):c.2122C>T (p.His708Tyr)	SNV Germline	Chr17:80113299	Conflicting classifications of pathogenicity	Condition: not provided Glycogen storage disease, type II Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA8815617	rs_149916476	5 SubmittersRCV000276602 RCV000799633 RCV005831575
NM_000152.5(GAA):c.2427C>G (p.Ala809=)	SNV Germline	Chr17:80117695	Conflicting classifications of pathogenicity	Condition: not provided Glycogen storage disease, type II	Criteria Provided Conflicting Classifications	CA8815738	rs_766325117	3 SubmittersRCV000329722 RCV001460062
NM_000152.5(GAA):c.1124G>T (p.Arg375Leu)	SNV Germline	Chr17:80108537	Pathogenic	Glycogen storage disease, type II Condition: not provided	Reviewed By Expert Panel	CA8815178	rs_142752477	10 SubmittersRCV000306541 RCV000725236
NM_000152.5(GAA):c.1195-4G>T	SNV Germline	Chr17:80108693	Conflicting classifications of pathogenicity	Condition: not provided Glycogen storage disease, type II	Criteria Provided Conflicting Classifications	CA10604494	rs_886042626	2 SubmittersRCV000385088 RCV003609152
NM_000152.5(GAA):c.841C>T (p.Arg281Trp)	SNV Germline	Chr17:80107705	Likely pathogenic	Condition: not provided Glycogen storage disease, type II GAA-related disorder Cardiovascular phenotype	Reviewed By Expert Panel	CA8815025	rs_142967546	19 SubmittersRCV000319725 RCV000535428 RCV004751427 RCV005562327
NM_000152.5(GAA):c.1064T>C (p.Leu355Pro)	SNV Germline	Chr17:80108398	Pathogenic	Glycogen storage disease, type II Condition: not provided	Reviewed By Expert Panel	CA8815136	rs_766074609	13 SubmittersRCV000353485 RCV000725389
NM_000152.5(GAA):c.1536C>T (p.Phe512=)	SNV Germline	Chr17:80110825	Conflicting classifications of pathogenicity	not specified Condition: not provided Glycogen storage disease, type II Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA8815359	rs_143491365	7 SubmittersRCV000264734 RCV000725394 RCV001085108 RCV005841540
NM_000152.5(GAA):c.1725C>T (p.Tyr575=)	SNV Germline	Chr17:80112071	Conflicting classifications of pathogenicity	Condition: not provided Glycogen storage disease, type II Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA8815440	rs_112517802	7 SubmittersRCV000283710 RCV001086784 RCV005562328
NM_000152.5(GAA):c.1265G>A (p.Arg422Gln)	SNV Germline	Chr17:80108767	Conflicting classifications of pathogenicity	Condition: not provided Glycogen storage disease, type II	Criteria Provided Conflicting Classifications	CA8815245	rs_2229224	7 SubmittersRCV000349846 RCV001080632
NM_000152.5(GAA):c.1848C>T (p.Asp616=)	SNV Germline	Chr17:80112671	Conflicting classifications of pathogenicity	Condition: not provided Glycogen storage disease, type II Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA8815498	rs_377175810	7 SubmittersRCV000402428 RCV001088257 RCV003165735
NM_000152.5(GAA):c.2647-6G>A	SNV Germline	Chr17:80118647	Conflicting classifications of pathogenicity	not specified Condition: not provided Glycogen storage disease, type II	Criteria Provided Conflicting Classifications	CA10604795	rs_201525743	4 SubmittersRCV000390653 RCV000725455 RCV001418402
NM_000152.5(GAA):c.1143C>T (p.Thr381=)	SNV Germline	Chr17:80108556	Conflicting classifications of pathogenicity	Condition: not provided Glycogen storage disease, type II Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA8815182	rs_111832449	6 SubmittersRCV000279653 RCV001087108 RCV002450810
NM_000152.5(GAA):c.362A>G (p.Gln121Arg)	SNV Germline	Chr17:80104948	Conflicting classifications of pathogenicity	Condition: not provided Glycogen storage disease, type II Long QT syndrome	Criteria Provided Conflicting Classifications	CA8814857	rs_150284874	8 SubmittersRCV000403362 RCV000815535 RCV000852726
NM_000152.5(GAA):c.1851G>A (p.Val617=)	SNV Germline	Chr17:80112674	Conflicting classifications of pathogenicity	Condition: not provided Glycogen storage disease, type II	Criteria Provided Conflicting Classifications	CA10604843	rs_886042906	3 SubmittersRCV000363158 RCV001425010
NM_000152.5(GAA):c.861C>T (p.Pro287=)	SNV Germline	Chr17:80107802	Conflicting classifications of pathogenicity	Condition: not provided Glycogen storage disease, type II not specified Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA8815072	rs_778580823	9 SubmittersRCV000274967 RCV001080117 RCV001192851 RCV002446521
NM_000152.5(GAA):c.1000G>T (p.Gly334Cys)	SNV Germline	Chr17:80108334	Likely pathogenic	Condition: not provided not specified Glycogen storage disease, type II	Reviewed By Expert Panel	CA10604927	rs_886042960	3 SubmittersRCV000285793 RCV003479092 RCV005645065
NM_000152.5(GAA):c.1447G>A (p.Gly483Arg)	SNV Germline	Chr17:80110736	Pathogenic	Condition: not provided Glycogen storage disease, type II	Reviewed By Expert Panel	CA8815349	rs_770590394	10 SubmittersRCV000278497 RCV000664619
NM_000152.5(GAA):c.2656G>A (p.Val886Met)	SNV Germline	Chr17:80118662	Conflicting classifications of pathogenicity	Condition: not provided Cardiovascular phenotype Glycogen storage disease, type II	Criteria Provided Conflicting Classifications	CA8815828	rs_372802420	4 SubmittersRCV000310236 RCV002429224 RCV002519172
NM_000152.5(GAA):c.2297A>G (p.Tyr766Cys)	SNV Germline	Chr17:80117075	Pathogenic	Condition: not provided Glycogen storage disease, type II	Reviewed By Expert Panel	CA8815679	rs_144016984	13 SubmittersRCV000403113 RCV001049848
NM_000152.5(GAA):c.1410C>T (p.Asn470=)	SNV Germline	Chr17:80110028	Conflicting classifications of pathogenicity	Condition: not provided Glycogen storage disease, type II Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA8815310	rs_886043068	6 SubmittersRCV000403878 RCV001089130 RCV002392802
NM_000152.5(GAA):c.866C>T (p.Ala289Val)	SNV Germline	Chr17:80107807	Conflicting classifications of pathogenicity	Condition: not provided Glycogen storage disease, type II Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA8815076	rs_145903608	6 SubmittersRCV000324645 RCV000541633 RCV005572293
NM_000152.5(GAA):c.444C>T (p.Tyr148=)	SNV Germline	Chr17:80105030	Conflicting classifications of pathogenicity	Condition: not provided Glycogen storage disease, type II Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10605123	rs_886043112	4 SubmittersRCV000353451 RCV001445404 RCV004992157
NM_000152.5(GAA):c.1402A>T (p.Ile468Phe)	SNV Germline	Chr17:80110020	Likely pathogenic	Condition: not provided Glycogen storage disease, type II	Reviewed By Expert Panel	CA10605170	rs_886043148	11 SubmittersRCV000386415 RCV000673833
NM_000152.5(GAA):c.2418G>A (p.Thr806=)	SNV Germline	Chr17:80117686	Conflicting classifications of pathogenicity	Condition: not provided Glycogen storage disease, type II Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA8815735	rs_371528938	5 SubmittersRCV000371750 RCV001088707 RCV004021184
NM_000152.5(GAA):c.2051C>T (p.Pro684Leu)	SNV Germline	Chr17:80113228	Conflicting classifications of pathogenicity	Glycogen storage disease, type II Condition: not provided GAA-related disorder	Criteria Provided Conflicting Classifications	CA8815599	rs_147327209	15 SubmittersRCV000264524 RCV000364773 RCV003391044
NM_000152.5(GAA):c.1434G>A (p.Gly478=)	SNV Germline	Chr17:80110052	Conflicting classifications of pathogenicity	Condition: not provided Glycogen storage disease, type II Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10605336	rs_886043285	4 SubmittersRCV000303014 RCV001419469 RCV003298341
NM_000152.5(GAA):c.1482A>G (p.Thr494=)	SNV Germline	Chr17:80110771	Conflicting classifications of pathogenicity	not specified Condition: not provided Glycogen storage disease, type II Cardiovascular phenotype GAA-related disorder	Criteria Provided Conflicting Classifications	CA8815353	rs_202064115	9 SubmittersRCV000389259 RCV000725799 RCV001087762 RCV002392803 RCV003967751
NM_000152.5(GAA):c.2561G>A (p.Arg854Gln)	SNV Germline	Chr17:80118272	Conflicting classifications of pathogenicity	not specified Condition: not provided Glycogen storage disease, type II GAA-related disorder Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA8815788	rs_149968110	11 SubmittersRCV000275982 RCV000586838 RCV001085439 RCV003967753 RCV005831578
NM_000152.5(GAA):c.2799+4A>G	SNV Germline	Chr17:80118809	Likely pathogenic	Condition: not provided Glycogen storage disease, type II	Reviewed By Expert Panel	CA8815855	rs_778032599	9 SubmittersRCV000382015 RCV000674123
NM_000152.5(GAA):c.1356C>T (p.Ala452=)	SNV Germline	Chr17:80109974	Conflicting classifications of pathogenicity	Condition: not provided Cardiovascular phenotype Glycogen storage disease, type II	Criteria Provided Conflicting Classifications	CA8815296	rs_757893858	11 SubmittersRCV000725823 RCV002379136 RCV001001227
NM_000152.5(GAA):c.2332-10C>G	SNV Germline	Chr17:80117590	Conflicting classifications of pathogenicity	Condition: not provided Glycogen storage disease, type II	Criteria Provided Conflicting Classifications	CA8815712	rs_373606162	6 SubmittersRCV000325242 RCV001084656
NM_000152.5(GAA):c.2155G>T (p.Ala719Ser)	SNV Germline	Chr17:80113332	Conflicting classifications of pathogenicity	Glycogen storage disease, type II Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA8815628	rs_143324027	9 SubmittersRCV000631086 RCV000675240 RCV001375522
NM_000152.5(GAA):c.1754+1G>A	SNV Germline	Chr17:80112101	Pathogenic	Condition: not provided Glycogen storage disease, type II	Reviewed By Expert Panel	CA10605471	rs_886043399	7 SubmittersRCV000300474 RCV001200862
NM_000152.5(GAA):c.1841C>T (p.Thr614Met)	SNV Germline	Chr17:80112664	Likely pathogenic	Condition: not provided Glycogen storage disease, type II Rare genetic deafness	Reviewed By Expert Panel	CA8815496	rs_369531647	14 SubmittersRCV000295145 RCV000702676 RCV004017586
NM_000152.5(GAA):c.317G>A (p.Arg106His)	SNV Germline	Chr17:80104903	Conflicting classifications of pathogenicity	Condition: not provided Glycogen storage disease, type II GAA-related disorder	Criteria Provided Conflicting Classifications	CA8814849	rs_772534106	9 SubmittersRCV000380809 RCV000631065 RCV004751434
NM_000152.5(GAA):c.1192C>T (p.Leu398=)	SNV Germline	Chr17:80108605	Conflicting classifications of pathogenicity	Condition: not provided Glycogen storage disease, type II Hepatocellular carcinoma Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA8815199	rs_369707231	5 SubmittersRCV000404831 RCV001081335 RCV005895742 RCV006342209
NM_000152.5(GAA):c.1053G>T (p.Val351=)	SNV Germline	Chr17:80108387	Conflicting classifications of pathogenicity	Condition: not provided Glycogen storage disease, type II	Criteria Provided Conflicting Classifications	CA8815134	rs_773063199	3 SubmittersRCV000289985 RCV001494056
NM_000152.5(GAA):c.534C>G (p.Arg178=)	SNV Germline	Chr17:80105120	Conflicting classifications of pathogenicity	Condition: not provided Glycogen storage disease, type II	Criteria Provided Conflicting Classifications	CA8814890	rs_765613378	2 SubmittersRCV000380961 RCV002059207
NM_000152.5(GAA):c.2064C>T (p.Ser688=)	SNV Germline	Chr17:80113241	Conflicting classifications of pathogenicity	not specified Glycogen storage disease, type II Cardiovascular phenotype Condition: not provided	Criteria Provided Conflicting Classifications	CA8815602	rs_140996643	8 SubmittersRCV000287563 RCV000322043 RCV003372681 RCV000726098
NM_000152.5(GAA):c.2712G>A (p.Val904=)	SNV Germline	Chr17:80118718	Conflicting classifications of pathogenicity	Condition: not provided Glycogen storage disease, type II	Criteria Provided Conflicting Classifications	CA10606025	rs_886043848	3 SubmittersRCV000316137 RCV001494951
NM_000152.5(GAA):c.692+9T>C	SNV Germline	Chr17:80105903	Conflicting classifications of pathogenicity	not specified Condition: not provided Glycogen storage disease, type II	Criteria Provided Conflicting Classifications	CA8814967	rs_367661167	5 SubmittersRCV000379348 RCV000726158 RCV001082113
NM_000152.5(GAA):c.913G>A (p.Gly305Arg)	SNV Germline	Chr17:80107854	Conflicting classifications of pathogenicity	Condition: not provided Cardiomyopathy Glycogen storage disease, type II Thyroid cancer, nonmedullary, 1	Criteria Provided Conflicting Classifications	CA8815087	rs_200154987	9 SubmittersRCV000360148 RCV000852729 RCV000806320 RCV005895838
NM_000152.5(GAA):c.702G>A (p.Thr234=)	SNV Germline	Chr17:80107566	Conflicting classifications of pathogenicity	Condition: not provided Glycogen storage disease, type II Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA8814995	rs_755337511	4 SubmittersRCV000398386 RCV001447054 RCV002374477
NM_000152.5(GAA):c.1347G>A (p.Ser449=)	SNV Germline	Chr17:80109965	Conflicting classifications of pathogenicity	Condition: not provided Glycogen storage disease, type II Cardiovascular phenotype GAA-related disorder	Criteria Provided Conflicting Classifications	CA8815293	rs_756938942	7 SubmittersRCV000371494 RCV001499212 RCV002379146 RCV003897636
NM_000152.5(GAA):c.1781G>C (p.Arg594Pro)	SNV Germline	Chr17:80112604	Likely pathogenic	Condition: not provided Glycogen storage disease, type II	Reviewed By Expert Panel	CA8815476	rs_775450536	7 SubmittersRCV000375289 RCV001248974
NM_000152.5(GAA):c.1082C>G (p.Pro361Arg)	SNV Germline	Chr17:80108495	Likely pathogenic	Condition: not provided Glycogen storage disease, type II Glycogen storage disease due to acid maltase deficiency, late-onset	Reviewed By Expert Panel	CA10606426	rs_755253527	4 SubmittersRCV000382384 RCV001078141 RCV006262346
NM_000152.5(GAA):c.2652G>A (p.Thr884=)	SNV Germline	Chr17:80118658	Conflicting classifications of pathogenicity	Condition: not provided Glycogen storage disease, type II Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA8815826	rs_143642048	11 SubmittersRCV000726336 RCV001085559 RCV002429231
NM_000152.5(GAA):c.1842G>A (p.Thr614=)	SNV Germline	Chr17:80112665	Conflicting classifications of pathogenicity	Glycogen storage disease, type II Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA8815497	rs_373955374	7 SubmittersRCV000631085 RCV000726353 RCV002411175
NM_000152.5(GAA):c.993G>A (p.Arg331=)	SNV Germline	Chr17:80108327	Conflicting classifications of pathogenicity	Condition: not provided Glycogen storage disease, type II	Criteria Provided Conflicting Classifications	CA8815124	rs_749831587	4 SubmittersRCV000285090 RCV001456955
NM_000152.5(GAA):c.1560C>T (p.Asn520=)	SNV Germline	Chr17:80110949	Conflicting classifications of pathogenicity	Condition: not provided Glycogen storage disease, type II Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA8815385	rs_116322271	6 SubmittersRCV000365610 RCV001088988 RCV005338130
NM_000152.5(GAA):c.1823G>A (p.Arg608Gln)	SNV Germline	Chr17:80112646	Conflicting classifications of pathogenicity	Condition: not provided Glycogen storage disease, type II	Criteria Provided Conflicting Classifications	CA8815489	rs_377126280	7 SubmittersRCV000277163 RCV000554270
NM_000152.5(GAA):c.249C>T (p.Asp83=)	SNV Germline	Chr17:80104835	Conflicting classifications of pathogenicity	Condition: not provided Glycogen storage disease, type II Cardiovascular phenotype not specified	Criteria Provided Conflicting Classifications	CA8814824	rs_377351519	5 SubmittersRCV000364811 RCV001078799 RCV005338132 RCV006456952
NM_000152.5(GAA):c.468C>T (p.Thr156=)	SNV Germline	Chr17:80105054	Conflicting classifications of pathogenicity	Condition: not provided Glycogen storage disease, type II Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10606807	rs_145849611	3 SubmittersRCV000283468 RCV002059294 RCV005841547
NM_000152.5(GAA):c.952A>T (p.Met318Leu)	SNV Germline	Chr17:80107893	Conflicting classifications of pathogenicity	Condition: not provided Glycogen storage disease, type II	Criteria Provided Conflicting Classifications	CA10606846	rs_886044506	3 SubmittersRCV000366470 RCV001379526
NM_000152.5(GAA):c.2253C>T (p.Leu751=)	SNV Germline	Chr17:80117031	Conflicting classifications of pathogenicity	Condition: not provided Glycogen storage disease, type II Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA8815669	rs_140441758	6 SubmittersRCV000403504 RCV001080332 RCV002446535
NM_000152.5(GAA):c.1075+9T>C	SNV Germline	Chr17:80108418	Conflicting classifications of pathogenicity	not specified Condition: not provided Glycogen storage disease, type II	Criteria Provided Conflicting Classifications	CA8815140	rs_751918816	5 SubmittersRCV000285215 RCV000726676 RCV001087978
NM_000152.5(GAA):c.2109C>T (p.Tyr703=)	SNV Germline	Chr17:80113286	Conflicting classifications of pathogenicity	Glycogen storage disease, type II Condition: not provided Cardiovascular phenotype GAA-related disorder	Criteria Provided Conflicting Classifications	CA8815611	rs_150728610	8 SubmittersRCV001082960 RCV000726677 RCV002418138 RCV003949961
NM_000152.5(GAA):c.197G>A (p.Arg66Gln)	SNV Germline	Chr17:80104783	Conflicting classifications of pathogenicity	Glycogen storage disease, type II Cardiomyopathy Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA8814804	rs_200202628	9 SubmittersRCV000342526 RCV000852725 RCV003129832 RCV005831591
NM_000152.5(GAA):c.503G>A (p.Arg168Gln)	SNV Germline	Chr17:80105089	Conflicting classifications of pathogenicity	Glycogen storage disease, type II Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA8814884	rs_376685205	9 SubmittersRCV000309076 RCV000786313 RCV002469130
NM_000152.5(GAA):c.761C>T (p.Ser254Leu)	SNV Germline	Chr17:80107625	Conflicting classifications of pathogenicity	Glycogen storage disease, type II Condition: not provided not specified GAA-related disorder	Criteria Provided Conflicting Classifications	CA8815009	rs_577915581	12 SubmittersRCV000285433 RCV000498412 RCV002265734 RCV004751466
NM_000152.5(GAA):c.955+14C>A	SNV Germline	Chr17:80107910	Conflicting classifications of pathogenicity	Glycogen storage disease, type II not specified	Criteria Provided Conflicting Classifications	CA8815099	rs_756921041	4 SubmittersRCV000346137 RCV000604164
NM_000152.5(GAA):c.2800-11C>G	SNV Germline	Chr17:80119261	Conflicting classifications of pathogenicity	Glycogen storage disease, type II not specified	Criteria Provided Conflicting Classifications	CA8815881	rs_374571499	6 SubmittersRCV000365905 RCV000422518
NM_000152.5(GAA):c.-312C>T	SNV Germline	Chr17:80101611	Conflicting classifications of pathogenicity	Glycogen storage disease, type II not specified GAA-related disorder	Criteria Provided Conflicting Classifications	CA10647035	rs_574326920	4 SubmittersRCV000326975 RCV000428679 RCV003897740
NM_000152.5(GAA):c.531C>T (p.Asn177=)	SNV Germline	Chr17:80105117	Conflicting classifications of pathogenicity	Glycogen storage disease, type II	Criteria Provided Conflicting Classifications	CA10647050	rs_886053544	2 SubmittersRCV000314949
NM_000152.5(GAA):c.1075+12T>G	SNV Germline	Chr17:80108421	Conflicting classifications of pathogenicity	Glycogen storage disease, type II not specified	Criteria Provided Conflicting Classifications	CA8815141	rs_370842677	4 SubmittersRCV000396659 RCV000599681
NM_000152.5(GAA):c.2319C>T (p.Tyr773=)	SNV Germline	Chr17:80117097	Conflicting classifications of pathogenicity	Glycogen storage disease, type II Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA8815685	rs_377402848	7 SubmittersRCV000385517 RCV001706520 RCV002446586
NM_000152.5(GAA):c.2800-9C>G	SNV Germline	Chr17:80119263	Conflicting classifications of pathogenicity	Glycogen storage disease, type II	Criteria Provided Conflicting Classifications	CA10647066	rs_886053547	3 SubmittersRCV000269141
NM_000152.5(GAA):c.257C>G (p.Pro86Arg)	SNV Germline	Chr17:80104843	Conflicting classifications of pathogenicity	Glycogen storage disease, type II not specified Condition: not provided GAA-related disorder Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA8814828	rs_2229222	12 SubmittersRCV000399666 RCV000595797 RCV001508997 RCV003912356 RCV006342232
NM_000152.5(GAA):c.752C>T (p.Ser251Leu)	SNV Germline	Chr17:80107616	Conflicting classifications of pathogenicity	Glycogen storage disease, type II Condition: not provided not specified GAA-related disorder	Criteria Provided Conflicting Classifications	CA8815007	rs_200856561	14 SubmittersRCV000372885 RCV000497864 RCV002265733 RCV004751465
NM_000152.5(GAA):c.2151C>T (p.His717=)	SNV Germline	Chr17:80113328	Conflicting classifications of pathogenicity	Glycogen storage disease, type II GAA-related disorder Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA8815625	rs_758725073	6 SubmittersRCV000325883 RCV003957666 RCV005338144
NM_000152.5(GAA):c.858+10C>T	SNV Germline	Chr17:80107732	Conflicting classifications of pathogenicity	Glycogen storage disease, type II Condition: not provided	Criteria Provided Conflicting Classifications	CA8815044	rs_758283022	6 SubmittersRCV000324021 RCV000592339
NM_000152.5(GAA):c.-32-3C>A	SNV Germline	Chr17:80104552	Pathogenic	Glycogen storage disease, type II	Reviewed By Expert Panel	CA16041878	rs_1055945806	5 SubmittersRCV000412452
NM_000152.5(GAA):c.169C>T (p.Gln57Ter)	SNV Germline	Chr17:80104755	Pathogenic	Glycogen storage disease, type II Condition: not provided	Reviewed By Expert Panel	CA16041879	rs_1057516251	6 SubmittersRCV000412122 RCV003488580
NM_000152.5(GAA):c.546G>T (p.Thr182=)	SNV Germline	Chr17:80105132	Pathogenic	Glycogen storage disease, type II Condition: not provided	Reviewed By Expert Panel	CA16041884	rs_143523371	5 SubmittersRCV000410156 RCV001782869
NM_000152.5(GAA):c.573C>A (p.Tyr191Ter)	SNV Germline	Chr17:80105775	Pathogenic	Glycogen storage disease, type II Condition: not provided	Reviewed By Expert Panel	CA16041885	rs_376229714	8 SubmittersRCV000410905 RCV001782865
NM_000152.5(GAA):c.875A>G (p.Tyr292Cys)	SNV Germline	Chr17:80107816	Pathogenic	Glycogen storage disease, type II Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA16041886	rs_1057516600	14 SubmittersRCV000410689 RCV000730212
NM_000152.5(GAA):c.1076-22T>G	SNV Germline	Chr17:80108467	Pathogenic	Glycogen storage disease, type II Condition: not provided	Reviewed By Expert Panel	CA8815157	rs_762260678	8 SubmittersRCV000409600 RCV001570177
NM_000152.5(GAA):c.1076-2A>G	SNV Germline	Chr17:80108487	Pathogenic	Glycogen storage disease, type II Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA16041887	rs_1057516290	3 SubmittersRCV000409982 RCV003137981
NM_000152.5(GAA):c.1115A>T (p.His372Leu)	SNV Germline	Chr17:80108528	Pathogenic	Glycogen storage disease, type II Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA16041889	rs_1057516520	7 SubmittersRCV000411518 RCV001702363
NM_000152.5(GAA):c.1194+2T>C	SNV Unknown	Chr17:80108609	Likely pathogenic	Glycogen storage disease, type II	No Assertion Criteria Provided	CA16041892	rs_1057516215	1 SubmittersRCV000409997
NM_000152.5(GAA):c.1222A>G (p.Met408Val)	SNV Germline	Chr17:80108724	Likely pathogenic	Glycogen storage disease, type II Condition: not provided	Reviewed By Expert Panel	CA8815236	rs_560575383	7 SubmittersRCV000410896 RCV004822041
NM_000152.5(GAA):c.1316T>A (p.Met439Lys)	SNV Germline	Chr17:80108818	Pathogenic	Glycogen storage disease, type II Glycogen storage disease Condition: not provided	Reviewed By Expert Panel	CA8815258	rs_747610090	10 SubmittersRCV000410956 RCV000612594 RCV001782875
NM_000152.5(GAA):c.1564C>G (p.Pro522Ala)	SNV Germline	Chr17:80110953	Pathogenic	Glycogen storage disease, type II Condition: not provided	Reviewed By Expert Panel	CA16041893	rs_892129065	10 SubmittersRCV000410150 RCV000733496
NM_000152.5(GAA):c.1687C>T (p.Gln563Ter)	SNV Germline	Chr17:80112033	Pathogenic	Glycogen storage disease, type II	Reviewed By Expert Panel	CA16041895	rs_1057516426	3 SubmittersRCV000411330
NM_000152.5(GAA):c.1799G>A (p.Arg600His)	SNV Germline	Chr17:80112622	Pathogenic	Glycogen storage disease, type II Condition: not provided	Reviewed By Expert Panel	CA8815482	rs_377544304	15 SubmittersRCV000408964 RCV000521900
NM_000152.5(GAA):c.1832G>A (p.Gly611Asp)	SNV Germline	Chr17:80112655	Likely pathogenic	Glycogen storage disease, type II	Reviewed By Expert Panel	CA16041897	rs_1057517105	5 SubmittersRCV000409030
NM_000152.5(GAA):c.1856G>A (p.Ser619Asn)	SNV Germline	Chr17:80112679	Pathogenic	Glycogen storage disease, type II Condition: not provided Abnormality of metabolism/homeostasis	Reviewed By Expert Panel	CA8815500	rs_753269119	13 SubmittersRCV000409055 RCV001726152 RCV001814152
NM_000152.5(GAA):c.2015G>A (p.Arg672Gln)	SNV Germline	Chr17:80113002	Likely pathogenic	Glycogen storage disease, type II Condition: not provided	Reviewed By Expert Panel	CA8815566	rs_778418246	10 SubmittersRCV000410731 RCV003137986
NM_000152.5(GAA):c.2040+1G>T	SNV Germline	Chr17:80113028	Pathogenic	Glycogen storage disease, type II Condition: not provided Gastric cancer	Reviewed By Expert Panel	CA16041898	rs_1057516928	9 SubmittersRCV000410649 RCV003137985 RCV005900636
NM_000152.5(GAA):c.2213G>A (p.Trp738Ter)	SNV Germline	Chr17:80116991	Pathogenic	Glycogen storage disease, type II Condition: not provided	Reviewed By Expert Panel	CA16041900	rs_1057516327	6 SubmittersRCV000411759 RCV003137982
NM_000152.5(GAA):c.2214G>A (p.Trp738Ter)	SNV Germline	Chr17:80116992	Pathogenic	Glycogen storage disease, type II	Reviewed By Expert Panel	CA16041901	rs_1057516328	5 SubmittersRCV000409827
NM_000152.5(GAA):c.2227C>T (p.Gln743Ter)	SNV Germline	Chr17:80117005	Pathogenic	Glycogen storage disease, type II	Criteria Provided Multiple Submitters No Conflicts	CA16041902	rs_1057516277	5 SubmittersRCV000410278
NM_000152.5(GAA):c.2238G>A (p.Trp746Ter)	SNV Germline	Chr17:80117016	Pathogenic	Glycogen storage disease, type II Condition: not provided	Reviewed By Expert Panel	CA8815666	rs_1800312	11 SubmittersRCV000410158 RCV000723386
NM_000152.5(GAA):c.2242G>T (p.Glu748Ter)	SNV Germline	Chr17:80117020	Pathogenic	Glycogen storage disease, type II	Reviewed By Expert Panel	CA16041903	rs_1057516363	3 SubmittersRCV000411214
NM_000152.5(GAA):c.2331+2T>A	SNV Germline	Chr17:80117111	Pathogenic	Glycogen storage disease, type II Condition: not provided	Reviewed By Expert Panel	CA16041906	rs_1057517148	8 SubmittersRCV000411608 RCV001702635
NM_000152.5(GAA):c.2704C>T (p.Gln902Ter)	SNV Germline	Chr17:80118710	Likely pathogenic	Glycogen storage disease, type II	Reviewed By Expert Panel	CA16041908	rs_1057516341	3 SubmittersRCV000411086
NM_000152.5(GAA):c.1961C>A (p.Ser654Ter)	SNV Germline	Chr17:80112948	Likely pathogenic	Condition: not provided Glycogen storage disease, type II	Reviewed By Expert Panel	CA16043014	rs_1057518106	2 SubmittersRCV000414717 RCV001200860
NM_000152.5(GAA):c.2052G>A (p.Pro684=)	SNV Germline	Chr17:80113229	Conflicting classifications of pathogenicity	not specified Condition: not provided Glycogen storage disease, type II Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA8815600	rs_546463058	9 SubmittersRCV000420693 RCV000726737 RCV001085036 RCV002418303
NM_000152.5(GAA):c.2132C>G (p.Thr711Arg)	SNV Germline	Chr17:80113309	Conflicting classifications of pathogenicity	not specified Condition: not provided Glycogen storage disease, type II	Criteria Provided Conflicting Classifications	CA8815620	rs_759292700	6 SubmittersRCV000428746 RCV000728005 RCV001584119
NM_000152.5(GAA):c.834G>A (p.Leu278=)	SNV Germline	Chr17:80107698	Conflicting classifications of pathogenicity	not specified Condition: not provided Glycogen storage disease, type II Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA8815023	rs_776314424	5 SubmittersRCV000443970 RCV000730476 RCV001414164 RCV002436331
NM_000152.5(GAA):c.2736G>A (p.Ala912=)	SNV Germline	Chr17:80118742	Conflicting classifications of pathogenicity	Condition: not provided Glycogen storage disease, type II Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA8815842	rs_142472738	8 SubmittersRCV000726791 RCV001088082 RCV002436291
NM_000152.5(GAA):c.2445C>T (p.Asn815=)	SNV Germline	Chr17:80117713	Conflicting classifications of pathogenicity	Glycogen storage disease, type II Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA8815744	rs_755846997	4 SubmittersRCV000934357 RCV001721436 RCV005562357
NM_000152.5(GAA):c.-116C>T	SNV Germline	Chr17:80101807	Conflicting classifications of pathogenicity	Condition: not provided Glycogen storage disease, type II	Criteria Provided Conflicting Classifications	CA16608674	rs_190152638	2 SubmittersRCV001703848 RCV001796971
NM_000152.5(GAA):c.1478C>T (p.Pro493Leu)	SNV Germline	Chr17:80110767	Likely pathogenic	Condition: not provided Glycogen storage disease, type II	Reviewed By Expert Panel	CA16608675	rs_148842275	9 SubmittersRCV000443985 RCV000666526
NM_000152.5(GAA):c.1082C>T (p.Pro361Leu)	SNV Germline	Chr17:80108495	Pathogenic	Glycogen storage disease, type II Condition: not provided	Reviewed By Expert Panel	CA8815163	rs_755253527	11 SubmittersRCV000464818 RCV001782927
NM_000152.5(GAA):c.1062C>A (p.Tyr354Ter)	SNV Germline	Chr17:80108396	Pathogenic	Condition: not provided Glycogen storage disease, type II	Reviewed By Expert Panel	CA16620645	rs_1064796703	5 SubmittersRCV000479891 RCV001265224
NM_000152.5(GAA):c.1075G>T (p.Gly359Ter)	SNV Germline	Chr17:80108409	Pathogenic	Condition: not provided Glycogen storage disease, type II	Reviewed By Expert Panel	CA16620646	rs_1064794288	3 SubmittersRCV000483867 RCV001231709
NM_000152.5(GAA):c.1552-3C>G	SNV Germline	Chr17:80110938	Likely pathogenic	Condition: not provided Glycogen storage disease, type II Cardiovascular phenotype Colon adenocarcinoma Gastric cancer Familial cancer of breast Melanoma	Reviewed By Expert Panel	CA8815383	rs_375470378	19 SubmittersRCV000479616 RCV000593914 RCV003380590 RCV005899648 RCV005899649 RCV005899647 RCV005899650
NM_000152.5(GAA):c.2297A>C (p.Tyr766Ser)	SNV Germline	Chr17:80117075	Pathogenic	Condition: not provided Glycogen storage disease, type II	Reviewed By Expert Panel	CA8815680	rs_144016984	9 SubmittersRCV000486923 RCV001065031
NM_000152.5(GAA):c.118C>T (p.Arg40Ter)	SNV Germline	Chr17:80104704	Pathogenic	Condition: not provided Glycogen storage disease, type II	Reviewed By Expert Panel	CA8814791	rs_767409395	11 SubmittersRCV000489843 RCV000589039
NM_000152.5(GAA):c.2105G>A (p.Arg702His)	SNV Germline	Chr17:80113282	Pathogenic	Condition: not provided Glycogen storage disease, type II GAA-related disorder	Reviewed By Expert Panel	CA8815610	rs_398123172	14 SubmittersRCV000489782 RCV000541873 RCV003962356
NM_000152.5(GAA):c.2269C>T (p.Gln757Ter)	SNV Germline	Chr17:80117047	Pathogenic	Condition: not provided Glycogen storage disease, type II	Reviewed By Expert Panel	CA294856548	rs_200483245	10 SubmittersRCV000493446 RCV000664955
NM_000152.5(GAA):c.1564C>A (p.Pro522Thr)	SNV Germline	Chr17:80110953	Pathogenic/Likely pathogenic	Condition: not provided Glycogen storage disease, type II	Criteria Provided Multiple Submitters No Conflicts	CA401367208	rs_892129065	3 SubmittersRCV000519755 RCV001834682
NM_000152.5(GAA):c.2671C>T (p.Arg891Cys)	SNV Germline	Chr17:80118677	Conflicting classifications of pathogenicity	Condition: not provided Glycogen storage disease, type II	Criteria Provided Conflicting Classifications	CA8815832	rs_377249041	3 SubmittersRCV000522173 RCV001034275
NM_000152.5(GAA):c.1438-9G>A	SNV Germline	Chr17:80110718	Conflicting classifications of pathogenicity	Condition: not provided not specified Glycogen storage disease, type II GAA-related disorder	Criteria Provided Conflicting Classifications	CA8815345	rs_202211401	8 SubmittersRCV000727404 RCV000594051 RCV001087242 RCV003942733
NM_000152.5(GAA):c.2154C>T (p.Val718=)	SNV Germline	Chr17:80113331	Conflicting classifications of pathogenicity	Glycogen storage disease, type II	Criteria Provided Conflicting Classifications	CA8815627	rs_1800311	3 SubmittersRCV000529944
NM_000152.5(GAA):c.2332-1G>C	SNV Germline	Chr17:80117599	Likely pathogenic	Glycogen storage disease, type II Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA401324964	rs_1555602832	5 SubmittersRCV000527551 RCV004791520
NM_000152.5(GAA):c.663C>T (p.Ile221=)	SNV Germline	Chr17:80105865	Conflicting classifications of pathogenicity	Condition: not provided Glycogen storage disease, type II Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA8814956	rs_142878958	6 SubmittersRCV000598504 RCV001080342 RCV002367774
NM_000152.5(GAA):c.2456G>A (p.Arg819Gln)	SNV Germline	Chr17:80117724	Conflicting classifications of pathogenicity	Glycogen storage disease, type II Condition: not provided	Criteria Provided Conflicting Classifications	CA8815747	rs_374687883	4 SubmittersRCV000545406 RCV004791521
NM_000152.5(GAA):c.2609G>A (p.Arg870Gln)	SNV Germline	Chr17:80118320	Conflicting classifications of pathogenicity	Glycogen storage disease, type II Condition: not provided	Criteria Provided Conflicting Classifications	CA8815795	rs_747076541	2 SubmittersRCV000554449 RCV003139752
NM_000152.5(GAA):c.2740C>T (p.Gln914Ter)	SNV Germline	Chr17:80118746	Likely pathogenic	Glycogen storage disease, type II	Reviewed By Expert Panel	CA401327117	rs_1555603264	3 SubmittersRCV000534401
NM_000152.5(GAA):c.277G>A (p.Ala93Thr)	SNV Germline	Chr17:80104863	Conflicting classifications of pathogenicity	Glycogen storage disease, type II Condition: not provided	Criteria Provided Conflicting Classifications	CA8814837	rs_142481170	4 SubmittersRCV000534070 RCV001548249
NM_000152.5(GAA):c.711G>A (p.Ala237=)	SNV Germline	Chr17:80107575	Conflicting classifications of pathogenicity	Glycogen storage disease, type II Condition: not provided Cardiovascular phenotype GAA-related disorder	Criteria Provided Conflicting Classifications	CA8815000	rs_368328598	7 SubmittersRCV000530651 RCV000591487 RCV002367775 RCV003900115
NM_000152.5(GAA):c.1884G>C (p.Val628=)	SNV Germline	Chr17:80112707	Conflicting classifications of pathogenicity	Condition: not provided Glycogen storage disease, type II	Criteria Provided Conflicting Classifications	CA8815508	rs_780130036	4 SubmittersRCV000596871 RCV001080321
NM_000152.5(GAA):c.2215A>T (p.Thr739Ser)	SNV Germline	Chr17:80116993	Conflicting classifications of pathogenicity	Glycogen storage disease, type II Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA8815657	rs_578245757	3 SubmittersRCV000543367 RCV002431530
NM_000152.5(GAA):c.687C>T (p.Arg229=)	SNV Germline	Chr17:80105889	Conflicting classifications of pathogenicity	Glycogen storage disease, type II Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA8814964	rs_149814041	7 SubmittersRCV000527930 RCV003144318 RCV004023752
NM_000152.5(GAA):c.922C>T (p.His308Tyr)	SNV Germline	Chr17:80107863	Conflicting classifications of pathogenicity	Glycogen storage disease, type II See cases Condition: not provided Cardiovascular phenotype not specified	Criteria Provided Conflicting Classifications	CA8815089	rs_112025212	10 SubmittersRCV000560890 RCV002252158 RCV001584243 RCV002377004 RCV005239144
NM_000152.5(GAA):c.1416C>T (p.Thr472=)	SNV Germline	Chr17:80110034	Conflicting classifications of pathogenicity	Condition: not provided Glycogen storage disease, type II	Criteria Provided Conflicting Classifications	CA8815312	rs_368492669	7 SubmittersRCV000727406 RCV001087314
NM_000152.5(GAA):c.2041-4G>T	SNV Germline	Chr17:80113214	Conflicting classifications of pathogenicity	Glycogen storage disease, type II Condition: not provided	Criteria Provided Conflicting Classifications	CA8815595	rs_775757700	4 SubmittersRCV000528470 RCV000732711
NM_000152.5(GAA):c.2190-4G>A	SNV Germline	Chr17:80116964	Conflicting classifications of pathogenicity	Condition: not provided Glycogen storage disease, type II GAA-related disorder Cardiovascular phenotype not specified	Criteria Provided Conflicting Classifications	CA8815653	rs_759974338	9 SubmittersRCV000588046 RCV001083210 RCV003960261 RCV004023751 RCV005407690
NM_000152.5(GAA):c.2245G>T (p.Ala749Ser)	SNV Germline	Chr17:80117023	Conflicting classifications of pathogenicity	Glycogen storage disease, type II Condition: not provided	Criteria Provided Conflicting Classifications	CA8815668	rs_148311222	5 SubmittersRCV000543300 RCV003144317
NM_000152.5(GAA):c.2455C>T (p.Arg819Trp)	SNV Germline	Chr17:80117723	Likely pathogenic	Glycogen storage disease, type II Condition: not provided Cardiovascular phenotype	Reviewed By Expert Panel	CA8815746	rs_61736895	9 SubmittersRCV000530517 RCV001770411 RCV002456047
NM_000152.5(GAA):c.2188G>T (p.Glu730Ter)	SNV Germline	Chr17:80113365	Pathogenic	Glycogen storage disease, type II	Reviewed By Expert Panel	CA401370663	rs_1555601828	3 SubmittersRCV000586591
NM_000152.5(GAA):c.1735G>A (p.Glu579Lys)	SNV Germline	Chr17:80112081	Pathogenic	Glycogen storage disease, type II Condition: not provided	Reviewed By Expert Panel	CA294895841	rs_991082382	10 SubmittersRCV000586125 RCV001783090
NM_000152.5(GAA):c.858+2T>A	SNV Germline	Chr17:80107724	Likely pathogenic	Glycogen storage disease, type II	Criteria Provided Single Submitter	CA401363732	rs_1555599713	1 SubmittersRCV000586360
NM_000152.5(GAA):c.1129G>C (p.Gly377Arg)	SNV Germline	Chr17:80108542	Pathogenic/Likely pathogenic	Condition: not provided Glycogen storage disease, type II	Criteria Provided Multiple Submitters No Conflicts	CA8815180	rs_752002666	2 SubmittersRCV000592368 RCV001249091
NM_000152.5(GAA):c.546+8G>A	SNV Germline	Chr17:80105140	Conflicting classifications of pathogenicity	Condition: not provided Glycogen storage disease, type II	Criteria Provided Conflicting Classifications	CA294887513	rs_200107080	4 SubmittersRCV000595321 RCV001089284
NM_000152.5(GAA):c.1375G>C (p.Asp459His)	SNV Germline	Chr17:80109993	Conflicting classifications of pathogenicity	Condition: not provided Glycogen storage disease, type II	Criteria Provided Conflicting Classifications	CA294893978	rs_535644999	5 SubmittersRCV000597199 RCV000698293
NM_000152.5(GAA):c.460C>T (p.Arg154Cys)	SNV Germline	Chr17:80105046	Conflicting classifications of pathogenicity	Condition: not provided Glycogen storage disease, type II	Criteria Provided Conflicting Classifications	CA8814876	rs_539841659	3 SubmittersRCV000596844 RCV002483587
NM_000152.5(GAA):c.297C>T (p.Thr99=)	SNV Germline	Chr17:80104883	Conflicting classifications of pathogenicity	Condition: not provided Glycogen storage disease, type II	Criteria Provided Conflicting Classifications	CA8814842	rs_771846178	3 SubmittersRCV000597595 RCV001087805
NM_000152.5(GAA):c.794G>A (p.Ser265Asn)	SNV Germline	Chr17:80107658	Conflicting classifications of pathogenicity	Condition: not provided Glycogen storage disease, type II	Criteria Provided Conflicting Classifications	CA8815019	rs_772002851	6 SubmittersRCV000594929 RCV000631094
NM_000152.5(GAA):c.2236T>C (p.Trp746Arg)	SNV Germline	Chr17:80117014	Pathogenic/Likely pathogenic	Glycogen storage disease, type II Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA401324769	rs_1479740763	8 SubmittersRCV000598534 RCV000726989
NM_000152.5(GAA):c.1860C>T (p.Ser620=)	SNV Germline	Chr17:80112683	Conflicting classifications of pathogenicity	Condition: not provided Glycogen storage disease, type II Cardiovascular phenotype GAA-related disorder	Criteria Provided Conflicting Classifications	CA8815501	rs_370369972	6 SubmittersRCV000596256 RCV001089227 RCV002413677 RCV003905535
NM_000152.5(GAA):c.906G>A (p.Glu302=)	SNV Germline	Chr17:80107847	Conflicting classifications of pathogenicity	Condition: not provided Glycogen storage disease, type II	Criteria Provided Conflicting Classifications	CA502402758	rs_1488323868	3 SubmittersRCV000592177 RCV001084756
NM_000152.5(GAA):c.1802C>G (p.Ser601Trp)	SNV Germline	Chr17:80112625	Likely pathogenic	Condition: not provided Glycogen storage disease, type II	Reviewed By Expert Panel	CA294896338	rs_374470794	7 SubmittersRCV000597451 RCV001199859
NM_000152.5(GAA):c.1552-14C>T	SNV Germline	Chr17:80110927	Conflicting classifications of pathogenicity	Glycogen storage disease, type II Condition: not provided GAA-related disorder not specified	Criteria Provided Conflicting Classifications	CA8815381	rs_199715011	5 SubmittersRCV001123715 RCV001704699 RCV003935639 RCV003230552
NM_000152.5(GAA):c.119G>A (p.Arg40Gln)	SNV Germline	Chr17:80104705	Conflicting classifications of pathogenicity	Glycogen storage disease, type II Condition: not provided Cardiovascular phenotype Familial cancer of breast not specified	Criteria Provided Conflicting Classifications	CA8814792	rs_374476196	6 SubmittersRCV000631091 RCV002292572 RCV005831636 RCV005900118 RCV005431823
NM_000152.5(GAA):c.393C>G (p.Pro131=)	SNV Germline	Chr17:80104979	Conflicting classifications of pathogenicity	Glycogen storage disease, type II Condition: not provided	Criteria Provided Conflicting Classifications	CA8814863	rs_769276948	2 SubmittersRCV000631116 RCV005632539
NM_000152.5(GAA):c.1727G>A (p.Gly576Asp)	SNV Germline	Chr17:80112073	Conflicting classifications of pathogenicity	Glycogen storage disease, type II	Criteria Provided Conflicting Classifications	CA401369098	rs_1555601255	2 SubmittersRCV000631054
NM_000152.5(GAA):c.1876T>G (p.Ser626Ala)	SNV Germline	Chr17:80112699	Conflicting classifications of pathogenicity	Glycogen storage disease, type II Cardiovascular phenotype Condition: not provided	Criteria Provided Conflicting Classifications	CA401369746	rs_1235035841	5 SubmittersRCV000631069 RCV005562405 RCV005632537
NM_000152.5(GAA):c.692+5G>T	SNV Germline	Chr17:80105899	Likely pathogenic	Glycogen storage disease, type II Condition: not provided	Reviewed By Expert Panel	CA8814966	rs_763027848	5 SubmittersRCV000631076 RCV001784204
NM_000152.5(GAA):c.1438-2A>G	SNV Germline	Chr17:80110725	Pathogenic	Glycogen storage disease, type II	Reviewed By Expert Panel	CA401366755	rs_1555600730	4 SubmittersRCV000631061
NM_000152.5(GAA):c.36C>T (p.Leu12=)	SNV Germline	Chr17:80104622	Conflicting classifications of pathogenicity	Glycogen storage disease, type II Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA8814765	rs_200548806	4 SubmittersRCV000631115 RCV002358756
NM_000152.5(GAA):c.216C>T (p.Pro72=)	SNV Germline	Chr17:80104802	Conflicting classifications of pathogenicity	Condition: not provided Glycogen storage disease, type II	Criteria Provided Conflicting Classifications	CA8814811	rs_753287841	3 SubmittersRCV000728964 RCV001089244
NM_000152.5(GAA):c.1743C>T (p.Ile581=)	SNV Germline	Chr17:80112089	Conflicting classifications of pathogenicity	Glycogen storage disease, type II Cardiovascular phenotype GAA-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA8815445	rs_527970795	5 SubmittersRCV000631101 RCV003302985 RCV003918005 RCV006448467
NM_000152.5(GAA):c.1245G>A (p.Thr415=)	SNV Germline	Chr17:80108747	Conflicting classifications of pathogenicity	Glycogen storage disease, type II Cardiovascular phenotype GAA-related disorder	Criteria Provided Conflicting Classifications	CA8815242	rs_760920034	5 SubmittersRCV000631114 RCV002388000 RCV004751641
NM_000152.5(GAA):c.2207G>A (p.Ser736Asn)	SNV Germline	Chr17:80116985	Conflicting classifications of pathogenicity	Glycogen storage disease, type II Cardiovascular phenotype GAA-related disorder	Criteria Provided Conflicting Classifications	CA8815656	rs_553430197	4 SubmittersRCV000631055 RCV002431856 RCV004751640
NM_000152.5(GAA):c.2003A>G (p.Tyr668Cys)	SNV Germline	Chr17:80112990	Likely pathogenic	Condition: not provided Glycogen storage disease, type II	Reviewed By Expert Panel	CA401370051	rs_1555601633	7 SubmittersRCV000658795 RCV001379709
NM_000152.5(GAA):c.241C>T (p.Gln81Ter)	SNV Germline	Chr17:80104827	Pathogenic	Glycogen storage disease, type II Condition: not provided	Reviewed By Expert Panel	CA401360518	rs_1555598687	4 SubmittersRCV000673492 RCV005632618
NM_000152.5(GAA):c.692+2T>C	SNV Germline	Chr17:80105896	Pathogenic/Likely pathogenic	Glycogen storage disease, type II	Criteria Provided Multiple Submitters No Conflicts	CA401362651	rs_1555599171	3 SubmittersRCV000669406
NM_000152.5(GAA):c.533G>A (p.Arg178His)	SNV Germline	Chr17:80105119	Conflicting classifications of pathogenicity	Glycogen storage disease, type II Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA8814889	rs_762267535	10 SubmittersRCV000670700 RCV003129985 RCV004026116
NM_000152.5(GAA):c.1076-1G>A	SNV Germline	Chr17:80108488	Pathogenic/Likely pathogenic	Glycogen storage disease, type II Melanoma Glycogen storage disease due to acid maltase deficiency, late-onset	No Assertion Criteria Provided	CA401364877	rs_1555600050	3 SubmittersRCV000666182 RCV005901447 RCV006265183
NM_000152.5(GAA):c.989G>A (p.Trp330Ter)	SNV Germline	Chr17:80108323	Pathogenic	Glycogen storage disease, type II Condition: not provided	Reviewed By Expert Panel	CA401364487	rs_1555599960	5 SubmittersRCV000665079 RCV002289951
NM_000152.5(GAA):c.1496G>A (p.Trp499Ter)	SNV Germline	Chr17:80110785	Pathogenic	Glycogen storage disease, type II	Reviewed By Expert Panel	CA8815357	rs_766680292	6 SubmittersRCV000673032
NM_000152.5(GAA):c.1195-1G>A	SNV Germline	Chr17:80108696	Pathogenic	Glycogen storage disease, type II	Criteria Provided Single Submitter	CA401365148	rs_1555600166	2 SubmittersRCV000664532
NM_000152.5(GAA):c.1437+1G>A	SNV Germline	Chr17:80110056	Likely pathogenic	Glycogen storage disease, type II Condition: not provided	Reviewed By Expert Panel	CA401366675	rs_1555600575	8 SubmittersRCV000671773 RCV001592852
NM_000152.5(GAA):c.1551+1G>T	SNV Germline	Chr17:80110841	Pathogenic	Glycogen storage disease, type II	Reviewed By Expert Panel	CA8815365	rs_770780848	9 SubmittersRCV000671915
NM_000152.5(GAA):c.1933G>T (p.Asp645Tyr)	SNV Germline	Chr17:80112920	Pathogenic	Glycogen storage disease, type II GAA-related disorder Condition: not provided	Reviewed By Expert Panel	CA401369905	rs_368438393	8 SubmittersRCV000672387 RCV003411583 RCV004719935
NM_000152.5(GAA):c.1710C>G (p.Asn570Lys)	SNV Germline	Chr17:80112056	Likely pathogenic	Glycogen storage disease, type II Condition: not provided	Reviewed By Expert Panel	CA401369044	rs_765362308	7 SubmittersRCV000670915 RCV001784266
NM_000152.5(GAA):c.2189+1G>T	SNV Germline	Chr17:80113367	Likely pathogenic	Glycogen storage disease, type II Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA401370667	rs_1209887739	4 SubmittersRCV000674456 RCV003489797
NM_000152.5(GAA):c.1784C>T (p.Pro595Leu)	SNV Germline	Chr17:80112607	Likely pathogenic	Glycogen storage disease, type II	Criteria Provided Multiple Submitters No Conflicts	CA8815478	rs_763772240	3 SubmittersRCV000665881
NM_000152.5(GAA):c.1941C>G (p.Cys647Trp)	SNV Germline	Chr17:80112928	Pathogenic	Glycogen storage disease, type II Condition: not provided	Reviewed By Expert Panel	CA8815554	rs_776948121	9 SubmittersRCV000665047 RCV001557095
NM_000152.5(GAA):c.2320G>A (p.Asp774Asn)	SNV Germline	Chr17:80117098	Conflicting classifications of pathogenicity	Glycogen storage disease, type II Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA8815686	rs_758390382	8 SubmittersRCV000671579 RCV001547359 RCV002265849
NM_000152.5(GAA):c.2647-7G>A	SNV Germline	Chr17:80118646	Pathogenic/Likely pathogenic	Glycogen storage disease, type II Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA8815822	rs_192679574	9 SubmittersRCV000666077 RCV001816669
NM_000152.5(GAA):c.-32-1G>C	SNV Germline	Chr17:80104554	Likely pathogenic	Glycogen storage disease, type II	Reviewed By Expert Panel	CA658824771	rs_1555598460	2 SubmittersRCV000673571
NM_000152.5(GAA):c.953T>A (p.Met318Lys)	SNV Germline	Chr17:80107894	Likely pathogenic	Glycogen storage disease, type II	Reviewed By Expert Panel	CA401364275	rs_121907936	6 SubmittersRCV000675007
NM_000152.5(GAA):c.1216G>A (p.Asp406Asn)	SNV Germline	Chr17:80108718	Likely pathogenic	Glycogen storage disease, type II	Reviewed By Expert Panel	CA401365200	rs_1555600179	4 SubmittersRCV000668100
NM_000152.5(GAA):c.1432G>A (p.Gly478Arg)	SNV Germline	Chr17:80110050	Pathogenic	Glycogen storage disease, type II	Reviewed By Expert Panel	CA8815317	rs_778068209	7 SubmittersRCV000666316
NM_000152.5(GAA):c.1551+1G>C	SNV Germline	Chr17:80110841	Pathogenic	Glycogen storage disease, type II Condition: not provided	Reviewed By Expert Panel	CA401367167	rs_770780848	6 SubmittersRCV000670717 RCV001784264
NM_000152.5(GAA):c.1552-2A>G	SNV Germline	Chr17:80110939	Pathogenic	Glycogen storage disease, type II	Criteria Provided Single Submitter	CA401367171	rs_1555600846	2 SubmittersRCV000664623
NM_000152.5(GAA):c.1669A>T (p.Ile557Phe)	SNV Germline	Chr17:80112015	Pathogenic	Glycogen storage disease, type II Condition: not provided	Reviewed By Expert Panel	CA401368911	rs_747150965	7 SubmittersRCV000674934 RCV005632621
NM_000152.5(GAA):c.1796C>A (p.Ser599Tyr)	SNV Germline	Chr17:80112619	Likely pathogenic	Glycogen storage disease, type II Condition: not provided	Reviewed By Expert Panel	CA8815479	rs_753505203	8 SubmittersRCV000666648 RCV001784239
NM_000152.5(GAA):c.1857C>G (p.Ser619Arg)	SNV Germline	Chr17:80112680	Pathogenic	Glycogen storage disease, type II	Reviewed By Expert Panel	CA401369658	rs_914396317	5 SubmittersRCV000665680
NM_000152.5(GAA):c.2407C>T (p.Gln803Ter)	SNV Germline	Chr17:80117675	Pathogenic	Glycogen storage disease, type II Condition: not provided	Reviewed By Expert Panel	CA401325116	rs_1344266804	5 SubmittersRCV000667612 RCV001784249
NM_000152.5(GAA):c.2647-20T>G	SNV Germline	Chr17:80118633	Likely pathogenic	Glycogen storage disease, type II Condition: not provided	Reviewed By Expert Panel	CA658795296	rs_1555603208	4 SubmittersRCV000671068 RCV001816675
NM_000152.5(GAA):c.352C>T (p.Gln118Ter)	SNV Germline	Chr17:80104938	Pathogenic	Glycogen storage disease, type II	Reviewed By Expert Panel	CA401360858	rs_1555598800	2 SubmittersRCV000669430
NM_000152.5(GAA):c.796C>T (p.Pro266Ser)	SNV Germline	Chr17:80107660	Likely pathogenic	Glycogen storage disease, type II Condition: not provided	Reviewed By Expert Panel	CA401363495	rs_1555599667	6 SubmittersRCV000672072 RCV001549927
NM_000152.5(GAA):c.1099T>C (p.Trp367Arg)	SNV Germline	Chr17:80108512	Likely pathogenic	Glycogen storage disease, type II Condition: not provided	Reviewed By Expert Panel	CA401364951	rs_1555600061	7 SubmittersRCV000671718 RCV001785699
NM_000152.5(GAA):c.1280T>C (p.Met427Thr)	SNV Germline	Chr17:80108782	Pathogenic/Likely pathogenic	Glycogen storage disease, type II	Criteria Provided Multiple Submitters No Conflicts	CA401365341	rs_1555600212	3 SubmittersRCV000665730
NM_000152.5(GAA):c.1326+2T>C	SNV Unknown	Chr17:80108830	Likely pathogenic	Glycogen storage disease, type II	No Assertion Criteria Provided	CA401365442	rs_1434761678	1 SubmittersRCV000670606
NM_000152.5(GAA):c.1978C>T (p.Arg660Cys)	SNV Germline	Chr17:80112965	Pathogenic	Glycogen storage disease, type II Condition: not provided GAA-related disorder	Reviewed By Expert Panel	CA8815561	rs_759518659	10 SubmittersRCV000674901 RCV001507903 RCV004751659
NM_000152.5(GAA):c.2045A>G (p.Gln682Arg)	SNV Germline	Chr17:80113222	Conflicting classifications of pathogenicity	Glycogen storage disease, type II Condition: not provided	Criteria Provided Conflicting Classifications	CA401370306	rs_1484576607	5 SubmittersRCV000667659 RCV001756129
NM_000152.5(GAA):c.2236T>G (p.Trp746Gly)	SNV Germline	Chr17:80117014	Pathogenic/Likely pathogenic	Glycogen storage disease, type II Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA401324770	rs_1479740763	8 SubmittersRCV000672437 RCV001784273
NM_000152.5(GAA):c.2314T>C (p.Trp772Arg)	SNV Germline	Chr17:80117092	Likely pathogenic	Glycogen storage disease, type II	Reviewed By Expert Panel	CA401324918	rs_1555602703	2 SubmittersRCV000667808
NM_000152.5(GAA):c.4G>T (p.Gly2Ter)	SNV Germline	Chr17:80104590	Likely pathogenic	Elevated circulating creatine kinase concentration Glycogen storage disease, type II Melanoma	Reviewed By Expert Panel	CA401359822	rs_1567825175	4 SubmittersRCV000678477 RCV001200874 RCV005901571
NM_000152.5(GAA):c.2228A>G (p.Gln743Arg)	SNV Germline	Chr17:80117006	Pathogenic/Likely pathogenic	Glycogen storage disease, type II Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA401324753	rs_1567838823	5 SubmittersRCV001193011 RCV003144478
NM_000152.5(GAA):c.1124G>A (p.Arg375His)	SNV Germline	Chr17:80108537	Pathogenic/Likely pathogenic	Glycogen storage disease, type II Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA8815177	rs_142752477	8 SubmittersRCV000694178 RCV001507901
NM_000152.5(GAA):c.858G>A (p.Thr286=)	SNV Germline	Chr17:80107722	Likely pathogenic	Glycogen storage disease, type II	Criteria Provided Multiple Submitters No Conflicts	CA294889742	rs_201056962	3 SubmittersRCV000694477
NM_000152.5(GAA):c.1114C>T (p.His372Tyr)	SNV Germline	Chr17:80108527	Conflicting classifications of pathogenicity	Glycogen storage disease, type II Condition: not provided	Criteria Provided Conflicting Classifications	CA401364982	rs_1555600070	4 SubmittersRCV000703411 RCV003144561
NM_000152.5(GAA):c.2662G>T (p.Glu888Ter)	SNV Germline	Chr17:80118668	Pathogenic	Glycogen storage disease, type II Condition: not provided	Reviewed By Expert Panel	CA8815829	rs_765718882	12 SubmittersRCV000701656 RCV001091540
NM_000152.5(GAA):c.250G>A (p.Val84Ile)	SNV Germline	Chr17:80104836	Conflicting classifications of pathogenicity	Glycogen storage disease, type II Condition: not provided GAA-related disorder	Criteria Provided Conflicting Classifications	CA8814825	rs_139595011	7 SubmittersRCV000695540 RCV000731464 RCV004751666
NM_000152.5(GAA):c.2381G>A (p.Arg794His)	SNV Germline	Chr17:80117649	Conflicting classifications of pathogenicity	Glycogen storage disease, type II Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA8815722	rs_200505871	5 SubmittersRCV000688330 RCV003144494 RCV003380677
NM_000152.5(GAA):c.18G>C (p.Pro6=)	SNV Germline	Chr17:80104604	Conflicting classifications of pathogenicity	Condition: not provided Glycogen storage disease, type II	Criteria Provided Conflicting Classifications	CA502176895	rs_774703637	3 SubmittersRCV000728216 RCV001496183
NM_000152.5(GAA):c.1802C>A (p.Ser601Ter)	SNV Germline	Chr17:80112625	Pathogenic	Condition: not provided Glycogen storage disease, type II	Reviewed By Expert Panel	CA401369436	rs_374470794	4 SubmittersRCV000728538 RCV001205738
NM_000152.5(GAA):c.1416C>G (p.Thr472=)	SNV Germline	Chr17:80110034	Conflicting classifications of pathogenicity	Condition: not provided Glycogen storage disease, type II Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA502178448	rs_368492669	4 SubmittersRCV000730061 RCV001443304 RCV002388362
NM_000152.5(GAA):c.900G>A (p.Ala300=)	SNV Germline	Chr17:80107841	Conflicting classifications of pathogenicity	Condition: not provided Glycogen storage disease, type II Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA502402752	rs_759425304	4 SubmittersRCV000730462 RCV001440377 RCV003165968
NM_000152.5(GAA):c.1134C>G (p.Tyr378Ter)	SNV Germline	Chr17:80108547	Pathogenic	Condition: not provided Glycogen storage disease, type II	Reviewed By Expert Panel	CA401365023	rs_1567830317	2 SubmittersRCV000731020 RCV001265218
NM_000152.5(GAA):c.67A>G (p.Thr23Ala)	SNV Germline	Chr17:80104653	Conflicting classifications of pathogenicity	Condition: not provided Glycogen storage disease, type II	Criteria Provided Conflicting Classifications	CA8814777	rs_2289537	4 SubmittersRCV000731715 RCV001243448
NM_000152.5(GAA):c.1880C>T (p.Ser627Phe)	SNV Germline	Chr17:80112703	Pathogenic	Condition: not provided Glycogen storage disease, type II	Reviewed By Expert Panel	CA294896504	rs_1024137874	8 SubmittersRCV000733480 RCV000814905
NM_000152.5(GAA):c.1572C>A (p.Asn524Lys)	SNV Germline	Chr17:80110961	Conflicting classifications of pathogenicity	Condition: not provided Glycogen storage disease, type II	Criteria Provided Conflicting Classifications	CA401367224	rs_1417304813	3 SubmittersRCV000733568 RCV006612477
NM_000152.5(GAA):c.1326+1G>A	SNV Germline	Chr17:80108829	Pathogenic	Condition: not provided Glycogen storage disease, type II	Reviewed By Expert Panel	CA401365436	rs_1205507761	7 SubmittersRCV000734207 RCV001249034
NM_000152.5(GAA):c.1047C>T (p.Ser349=)	SNV Germline	Chr17:80108381	Conflicting classifications of pathogenicity	Condition: not provided Glycogen storage disease, type II Cardiovascular phenotype GAA-related disorder	Criteria Provided Conflicting Classifications	CA8815132	rs_138262940	6 SubmittersRCV000734226 RCV001089377 RCV002397516 RCV003892670
NM_000152.5(GAA):c.2052G>C (p.Pro684=)	SNV Germline	Chr17:80113229	Conflicting classifications of pathogenicity	Condition: not provided Glycogen storage disease, type II	Criteria Provided Conflicting Classifications	CA502179111	rs_546463058	2 SubmittersRCV000734360 RCV005092154
NM_000152.5(GAA):c.18G>A (p.Pro6=)	SNV Germline	Chr17:80104604	Conflicting classifications of pathogenicity	Condition: not provided Glycogen storage disease, type II	Criteria Provided Conflicting Classifications	CA8814757	rs_774703637	4 SubmittersRCV000734530 RCV001080426
NM_000152.5(GAA):c.1905C>A (p.Asn635Lys)	SNV Germline	Chr17:80112892	Likely pathogenic	Glycogen storage disease, type II	Reviewed By Expert Panel	CA401369859	rs_1414146587	4 SubmittersRCV000780271
NM_000152.5(GAA):c.876C>G (p.Tyr292Ter)	SNV Germline	Chr17:80107817	Pathogenic	Glycogen storage disease, type II	Reviewed By Expert Panel	CA401363871	rs_763216519	2 SubmittersRCV000791246
NM_000152.5(GAA):c.1895T>G (p.Leu632Arg)	SNV Germline	Chr17:80112882	Pathogenic	Glycogen storage disease, type II	No Assertion Criteria Provided	CA401369835	rs_1598585402	1 SubmittersRCV000791248
NM_000152.5(GAA):c.1538A>G (p.Asp513Gly)	SNV Germline	Chr17:80110827	Likely pathogenic	Glycogen storage disease, type II	Reviewed By Expert Panel	CA401367134	rs_1598581682	2 SubmittersRCV000791250
NM_000152.5(GAA):c.276C>A (p.Cys92Ter)	SNV Germline	Chr17:80104862	Likely pathogenic	Glycogen storage disease, type II	Reviewed By Expert Panel	CA401360590	rs_1232001857	4 SubmittersRCV000810454
NM_000152.5(GAA):c.568C>T (p.Arg190Cys)	SNV Germline	Chr17:80105770	Conflicting classifications of pathogenicity	Glycogen storage disease, type II Condition: not provided Cervical cancer	Criteria Provided Conflicting Classifications	CA8814929	rs_771258854	5 SubmittersRCV000799395 RCV003141792 RCV005901979
NM_000152.5(GAA):c.671G>A (p.Arg224Gln)	SNV Germline	Chr17:80105873	Likely pathogenic	Glycogen storage disease, type II Condition: not provided	Reviewed By Expert Panel	CA8814958	rs_200210219	9 SubmittersRCV000822702 RCV001784455
NM_000152.5(GAA):c.1210G>A (p.Asp404Asn)	SNV Germline	Chr17:80108712	Pathogenic	Glycogen storage disease, type II Condition: not provided	Reviewed By Expert Panel	CA8815234	rs_141533320	10 SubmittersRCV000813939 RCV001563037
NM_000152.5(GAA):c.1232G>A (p.Arg411Gln)	SNV Germline	Chr17:80108734	Conflicting classifications of pathogenicity	Glycogen storage disease, type II GAA-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA8815241	rs_372799904	6 SubmittersRCV000814062 RCV003938174 RCV002259372
NM_000152.5(GAA):c.1585T>C (p.Ser529Pro)	SNV Germline	Chr17:80110974	Pathogenic	Glycogen storage disease, type II	Criteria Provided Single Submitter	CA401367254	rs_1598582021	1 SubmittersRCV000799681
NM_000152.5(GAA):c.1594G>A (p.Gly532Ser)	SNV Germline	Chr17:80110983	Conflicting classifications of pathogenicity	Glycogen storage disease, type II Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA8815388	rs_773576381	7 SubmittersRCV000817631 RCV003141841 RCV003323733
NM_000152.5(GAA):c.1798C>T (p.Arg600Cys)	SNV Germline	Chr17:80112621	Pathogenic	Glycogen storage disease, type II Condition: not provided	Reviewed By Expert Panel	CA8815481	rs_764670084	9 SubmittersRCV000794042 RCV001784410
NM_000152.5(GAA):c.1941C>A (p.Cys647Ter)	SNV Germline	Chr17:80112928	Likely pathogenic	Glycogen storage disease, type II	Reviewed By Expert Panel	CA401369921	rs_776948121	2 SubmittersRCV000821867
NM_000152.5(GAA):c.1943G>T (p.Gly648Val)	SNV Germline	Chr17:80112930	Likely pathogenic	Glycogen storage disease, type II	Criteria Provided Single Submitter	CA401369926	rs_1448515860	1 SubmittersRCV000820224
NM_000152.5(GAA):c.2383G>T (p.Glu795Ter)	SNV Germline	Chr17:80117651	Pathogenic	Glycogen storage disease, type II Condition: not provided	Reviewed By Expert Panel	CA401325061	rs_886043882	4 SubmittersRCV000804269 RCV001784424
NM_000152.5(GAA):c.2672G>A (p.Arg891His)	SNV Germline	Chr17:80118678	Conflicting classifications of pathogenicity	Glycogen storage disease, type II Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA8815833	rs_199524847	4 SubmittersRCV000810426 RCV003145164 RCV005831678
NM_000152.5(GAA):c.1438-1G>T	SNV Germline	Chr17:80110726	Pathogenic/Likely pathogenic	Glycogen storage disease, type II Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA8815346	rs_147804176	8 SubmittersRCV000818785 RCV001785729
NM_000152.5(GAA):c.1193T>C (p.Leu398Pro)	SNV Germline	Chr17:80108606	Pathogenic/Likely pathogenic	Glycogen storage disease, type II Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA401365139	rs_1598577666	2 SubmittersRCV000855786 RCV002223962
NM_000152.5(GAA):c.693-5C>T	SNV Germline	Chr17:80107552	Conflicting classifications of pathogenicity	Glycogen storage disease, type II Condition: not provided	Criteria Provided Conflicting Classifications	CA8814990	rs_763538104	2 SubmittersRCV000873973 RCV003145216
NM_000152.5(GAA):c.1053G>A (p.Val351=)	SNV Germline	Chr17:80108387	Conflicting classifications of pathogenicity	Condition: not provided Glycogen storage disease, type II	Criteria Provided Conflicting Classifications	CA294891845	rs_773063199	3 SubmittersRCV000926127 RCV001273036
NM_000152.5(GAA):c.2074C>T (p.Gln692Ter)	SNV Germline	Chr17:80113251	Pathogenic	Glycogen storage disease, type II Glycogen storage disease due to acid maltase deficiency, late-onset	Criteria Provided Single Submitter	CA401370437	rs_2039287628	3 SubmittersRCV001056322 RCV006262350
NM_000152.5(GAA):c.316C>G (p.Arg106Gly)	SNV Germline	Chr17:80104902	Likely pathogenic	Glycogen storage disease, type II	Criteria Provided Single Submitter	CA401360724	rs_915675670	1 SubmittersRCV001042857
NM_000152.5(GAA):c.322T>A (p.Cys108Ser)	SNV Germline	Chr17:80104908	Pathogenic	Glycogen storage disease, type II	Criteria Provided Single Submitter	CA401360738	rs_2039038743	1 SubmittersRCV001051500
NM_000152.5(GAA):c.1000G>A (p.Gly334Ser)	SNV Germline	Chr17:80108334	Likely pathogenic	Glycogen storage disease, type II	Reviewed By Expert Panel	CA401364531	rs_886042960	3 SubmittersRCV001045915
NM_000152.5(GAA):c.1370C>T (p.Pro457Leu)	SNV Germline	Chr17:80109988	Pathogenic/Likely pathogenic	Glycogen storage disease, type II	Criteria Provided Multiple Submitters No Conflicts	CA401366415	rs_2039191855	2 SubmittersRCV001051159
NM_000152.5(GAA):c.1930G>T (p.Ala644Ser)	SNV Germline	Chr17:80112917	Conflicting classifications of pathogenicity	Glycogen storage disease, type II	Criteria Provided Conflicting Classifications	CA8815549	rs_752735168	4 SubmittersRCV001056992
NM_000152.5(GAA):c.1195-2A>C	SNV Germline	Chr17:80108695	Likely pathogenic	Glycogen storage disease, type II	Criteria Provided Multiple Submitters No Conflicts	CA8815229	rs_765360653	2 SubmittersRCV001044684
NM_000152.5(GAA):c.1755-1G>A	SNV Germline	Chr17:80112577	Pathogenic/Likely pathogenic	Glycogen storage disease, type II	Criteria Provided Multiple Submitters No Conflicts	CA401369253	rs_2039261208	2 SubmittersRCV001053073
NM_000152.5(GAA):c.1437+2T>C	SNV Germline	Chr17:80110057	Pathogenic	Glycogen storage disease, type II	Reviewed By Expert Panel	CA401366685	rs_1598580407	2 SubmittersRCV001053248
NM_000152.5(GAA):c.2716G>A (p.Val906Ile)	SNV Germline	Chr17:80118722	Conflicting classifications of pathogenicity	Condition: not provided not specified Glycogen storage disease, type II	Criteria Provided Conflicting Classifications	CA401326980	rs_2039415511	3 SubmittersRCV001091541 RCV005408688 RCV006465340
NM_000152.5(GAA):c.630C>T (p.Ser210=)	SNV Germline	Chr17:80105832	Conflicting classifications of pathogenicity	Glycogen storage disease, type II Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA8814948	rs_775568949	4 SubmittersRCV001125316 RCV003293891
NM_000152.5(GAA):c.1638G>A (p.Gly546=)	SNV Germline	Chr17:80111984	Conflicting classifications of pathogenicity	Glycogen storage disease, type II	Criteria Provided Conflicting Classifications	CA502178825	rs_1260256483	2 SubmittersRCV001126381
NM_000152.5(GAA):c.1734C>T (p.Thr578=)	SNV Germline	Chr17:80112080	Conflicting classifications of pathogenicity	Glycogen storage disease, type II Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA8815442	rs_149384771	4 SubmittersRCV001126382 RCV004619519
NM_000152.5(GAA):c.2790C>T (p.Pro930=)	SNV Germline	Chr17:80118796	Conflicting classifications of pathogenicity	Glycogen storage disease, type II	Criteria Provided Conflicting Classifications	CA502169142	rs_2039418269	3 SubmittersRCV001128526
NM_000152.5(GAA):c.*64G>T	SNV Germline	Chr17:80119395	Conflicting classifications of pathogenicity	Glycogen storage disease, type II Condition: not provided	Criteria Provided Conflicting Classifications	CA294859535	rs_187532717	2 SubmittersRCV001122817 RCV001675984
NM_000152.5(GAA):c.1076-15G>C	SNV Germline	Chr17:80108474	Conflicting classifications of pathogenicity	Glycogen storage disease, type II	Criteria Provided Conflicting Classifications	CA8815160	rs_370414054	2 SubmittersRCV001128338
NM_000152.5(GAA):c.2434G>A (p.Asp812Asn)	SNV Germline	Chr17:80117702	Pathogenic	Glycogen storage disease, type II	Criteria Provided Single Submitter	CA401325193	rs_1433117170	1 SubmittersRCV001270298
NM_000152.5(GAA):c.307T>C (p.Cys103Arg)	SNV Germline	Chr17:80104893	Likely pathogenic	Glycogen storage disease, type II	Criteria Provided Single Submitter	CA401360685	rs_398123174	1 SubmittersRCV001193578
NM_000152.5(GAA):c.836G>A (p.Trp279Ter)	SNV Germline	Chr17:80107700	Likely pathogenic	Glycogen storage disease, type II	Criteria Provided Single Submitter	CA401363637	rs_2039122730	1 SubmittersRCV001193013
NM_000152.5(GAA):c.1716C>G (p.His572Gln)	SNV Germline	Chr17:80112062	Likely pathogenic	Glycogen storage disease, type II Condition: not provided	Reviewed By Expert Panel	CA401369055	rs_772962666	4 SubmittersRCV001194239 RCV003145370
NM_000152.5(GAA):c.1913G>T (p.Gly638Val)	SNV Germline	Chr17:80112900	Pathogenic	Glycogen storage disease, type II Condition: not provided	Reviewed By Expert Panel	CA401369874	rs_1294428728	4 SubmittersRCV001193579 RCV001780099
NM_000152.5(GAA):c.461G>C (p.Arg154Pro)	SNV Unknown	Chr17:80105047	Likely pathogenic	Glycogen storage disease, type II	Criteria Provided Single Submitter	CA401361525	rs_781124934	1 SubmittersRCV001196113
NM_000152.5(GAA):c.1194+5G>A	SNV Germline	Chr17:80108612	Likely pathogenic	Glycogen storage disease, type II	Reviewed By Expert Panel	CA658795243	rs_2039153749	2 SubmittersRCV001196112
NM_000152.5(GAA):c.1820G>A (p.Gly607Asp)	SNV Germline	Chr17:80112643	Likely pathogenic	Glycogen storage disease, type II Condition: not provided	Reviewed By Expert Panel	CA401369511	rs_1393386120	9 SubmittersRCV001199946 RCV001780105
NM_000152.5(GAA):c.377G>A (p.Trp126Ter)	SNV Germline	Chr17:80104963	Pathogenic	Glycogen storage disease, type II	Reviewed By Expert Panel	CA294887189	rs_1011631903	3 SubmittersRCV001200872
NM_000152.5(GAA):c.399C>A (p.Tyr133Ter)	SNV Germline	Chr17:80104985	Pathogenic	Glycogen storage disease, type II	Reviewed By Expert Panel	CA401361056	rs_2039042313	1 SubmittersRCV001200875
NM_000152.5(GAA):c.955+1G>A	SNV Germline	Chr17:80107897	Pathogenic	Glycogen storage disease, type II	Reviewed By Expert Panel	CA401364293	rs_1403691329	2 SubmittersRCV001200873
NM_000152.5(GAA):c.1927G>T (p.Gly643Trp)	SNV Germline	Chr17:80112914	Likely pathogenic	Glycogen storage disease, type II	Criteria Provided Single Submitter	CA294896832	rs_28937909	1 SubmittersRCV001221761
NM_000152.5(GAA):c.148G>T (p.Glu50Ter)	SNV Germline	Chr17:80104734	Pathogenic	Glycogen storage disease, type II	Criteria Provided Single Submitter	CA401360341	rs_1555598609	1 SubmittersRCV001207918
NM_000152.5(GAA):c.378G>A (p.Trp126Ter)	SNV Germline	Chr17:80104964	Pathogenic	Glycogen storage disease, type II	Reviewed By Expert Panel	CA401360961	rs_2039041225	3 SubmittersRCV001207151
NM_000152.5(GAA):c.643G>T (p.Glu215Ter)	SNV Germline	Chr17:80105845	Pathogenic	Glycogen storage disease, type II	Criteria Provided Single Submitter	CA401362407	rs_201286896	1 SubmittersRCV001204589
NM_000152.5(GAA):c.1831G>A (p.Gly611Ser)	SNV Germline	Chr17:80112654	Likely pathogenic	Glycogen storage disease, type II Cardiovascular phenotype Condition: not provided	Reviewed By Expert Panel	CA401369553	rs_1278340100	8 SubmittersRCV001203742 RCV002411745 RCV005633934
NM_000152.5(GAA):c.2284G>T (p.Glu762Ter)	SNV Germline	Chr17:80117062	Pathogenic	Glycogen storage disease, type II	Criteria Provided Single Submitter	CA401324858	rs_760063214	1 SubmittersRCV001208814
NM_000152.5(GAA):c.871C>T (p.Leu291Phe)	SNV Germline	Chr17:80107812	Pathogenic	Glycogen storage disease, type II Condition: not provided	Reviewed By Expert Panel	CA8815079	rs_773417785	8 SubmittersRCV001228970 RCV001751444
NM_000152.5(GAA):c.883C>A (p.His295Asn)	SNV Germline	Chr17:80107824	Likely pathogenic	Glycogen storage disease, type II Condition: not provided	Reviewed By Expert Panel	CA8815081	rs_751639773	5 SubmittersRCV001226064 RCV003145424
NM_000152.5(GAA):c.1211A>G (p.Asp404Gly)	SNV Germline	Chr17:80108713	Likely pathogenic	Glycogen storage disease, type II	Reviewed By Expert Panel	CA401365192	rs_886042961	4 SubmittersRCV001233390
NM_000152.5(GAA):c.1537G>A (p.Asp513Asn)	SNV Germline	Chr17:80110826	Likely pathogenic	Glycogen storage disease, type II Condition: not provided	Reviewed By Expert Panel	CA8815361	rs_748047271	6 SubmittersRCV001233657 RCV001507902
NM_000152.5(GAA):c.1411G>A (p.Glu471Lys)	SNV Germline	Chr17:80110029	Conflicting classifications of pathogenicity	Glycogen storage disease, type II	Criteria Provided Conflicting Classifications	CA8815311	rs_189402693	2 SubmittersRCV001240872
NM_000152.5(GAA):c.1754G>A (p.Arg585Lys)	SNV Germline	Chr17:80112100	Likely pathogenic	Glycogen storage disease, type II	Criteria Provided Multiple Submitters No Conflicts	CA8815448	rs_747373179	2 SubmittersRCV001243105
NM_000152.5(GAA):c.1909C>A (p.Leu637Met)	SNV Germline	Chr17:80112896	Conflicting classifications of pathogenicity	Glycogen storage disease, type II Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA8815544	rs_763301606	5 SubmittersRCV001245236 RCV003145483 RCV004699232
NM_000152.5(GAA):c.1936G>A (p.Val646Ile)	SNV Germline	Chr17:80112923	Conflicting classifications of pathogenicity	Glycogen storage disease, type II Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA8815553	rs_770029932	5 SubmittersRCV001245932 RCV002292620 RCV004619588
NM_000152.5(GAA):c.-32-2A>G	SNV Germline	Chr17:80104553	Pathogenic/Likely pathogenic	Glycogen storage disease, type II	Criteria Provided Multiple Submitters No Conflicts	CA628018630	rs_1445232530	3 SubmittersRCV001249079
NM_000152.5(GAA):c.3G>A (p.Met1Ile)	SNV Germline	Chr17:80104589	Pathogenic/Likely pathogenic	Glycogen storage disease, type II	Criteria Provided Multiple Submitters No Conflicts	CA401359809	rs_1187796945	3 SubmittersRCV001249078
NM_000152.5(GAA):c.671G>C (p.Arg224Pro)	SNV Germline	Chr17:80105873	Likely pathogenic	Glycogen storage disease, type II	Criteria Provided Single Submitter	CA401362527	rs_200210219	1 SubmittersRCV001249009
NM_000152.5(GAA):c.692+1G>A	SNV Germline	Chr17:80105895	Pathogenic	Glycogen storage disease, type II	Criteria Provided Single Submitter	CA401362642	rs_773281453	1 SubmittersRCV001249007
NM_000152.5(GAA):c.692+1G>C	SNV Germline	Chr17:80105895	Pathogenic	Glycogen storage disease, type II Condition: not provided	Reviewed By Expert Panel	CA8814965	rs_773281453	4 SubmittersRCV001249008 RCV004719116
NM_000152.5(GAA):c.743T>C (p.Leu248Pro)	SNV Germline	Chr17:80107607	Likely pathogenic	Glycogen storage disease, type II Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA401363263	rs_1443844938	5 SubmittersRCV001249006 RCV001780193
NM_000152.5(GAA):c.1003G>A (p.Gly335Arg)	SNV Germline	Chr17:80108337	Likely pathogenic	Glycogen storage disease, type II Condition: not provided	Reviewed By Expert Panel	CA501005	rs_202095215	8 SubmittersRCV001249005 RCV005633999
NM_000152.5(GAA):c.1100G>A (p.Trp367Ter)	SNV Germline	Chr17:80108513	Pathogenic	Glycogen storage disease, type II	Criteria Provided Multiple Submitters No Conflicts	CA401364953	rs_1478500490	2 SubmittersRCV001248955
NM_000152.5(GAA):c.1195-2A>G	SNV Germline	Chr17:80108695	Likely pathogenic	Glycogen storage disease, type II	Criteria Provided Multiple Submitters No Conflicts	CA8815228	rs_765360653	2 SubmittersRCV001248954
NM_000152.5(GAA):c.1327-2A>G	SNV Germline	Chr17:80109943	Pathogenic	Glycogen storage disease, type II Condition: not provided	Reviewed By Expert Panel	CA401366177	rs_1410829147	9 SubmittersRCV001248928 RCV001780192
NM_000152.5(GAA):c.1562A>T (p.Glu521Val)	SNV Germline	Chr17:80110951	Pathogenic	Glycogen storage disease, type II Condition: not provided	Reviewed By Expert Panel	CA401367205	rs_1455277014	5 SubmittersRCV001248926 RCV001780190
NM_000152.5(GAA):c.1564C>T (p.Pro522Ser)	SNV Germline	Chr17:80110953	Likely pathogenic	Glycogen storage disease, type II Condition: not provided	Reviewed By Expert Panel	CA294895008	rs_892129065	9 SubmittersRCV001248865 RCV001780189
NM_000152.5(GAA):c.1704C>G (p.His568Gln)	SNV Germline	Chr17:80112050	Conflicting classifications of pathogenicity	Glycogen storage disease, type II	Criteria Provided Conflicting Classifications	CA401369029	rs_776882059	2 SubmittersRCV001248864
NM_000152.5(GAA):c.1725C>A (p.Tyr575Ter)	SNV Germline	Chr17:80112071	Pathogenic	Glycogen storage disease, type II	Reviewed By Expert Panel	CA8815439	rs_112517802	3 SubmittersRCV001248863
NM_000152.5(GAA):c.1781G>A (p.Arg594His)	SNV Germline	Chr17:80112604	Likely pathogenic	Glycoprotein storage disease Glycogen storage disease, type II Condition: not provided	Reviewed By Expert Panel	CA8815477	rs_775450536	6 SubmittersRCV001248866 RCV001876297 RCV003142223
NM_000152.5(GAA):c.1804A>G (p.Thr602Ala)	SNV Germline	Chr17:80112627	Conflicting classifications of pathogenicity	Glycogen storage disease, type II	Criteria Provided Conflicting Classifications	CA8815484	rs_781484283	2 SubmittersRCV001249048
NM_000152.5(GAA):c.1822C>T (p.Arg608Ter)	SNV Germline	Chr17:80112645	Pathogenic	Glycogen storage disease, type II Condition: not provided	Reviewed By Expert Panel	CA8815488	rs_749529161	8 SubmittersRCV001249049 RCV001780194
NM_000152.5(GAA):c.1836C>G (p.His612Gln)	SNV Germline	Chr17:80112659	Likely pathogenic	Glycogen storage disease, type II	Criteria Provided Multiple Submitters No Conflicts	CA401369566	rs_768397968	3 SubmittersRCV001249047
NM_000152.5(GAA):c.1844G>A (p.Gly615Glu)	SNV Germline	Chr17:80112667	Pathogenic/Likely pathogenic	Glycogen storage disease, type II	Criteria Provided Multiple Submitters No Conflicts	CA401369598	rs_1243515778	4 SubmittersRCV001248924
NM_000152.5(GAA):c.1888+1G>A	SNV Germline	Chr17:80112712	Pathogenic/Likely pathogenic	Glycogen storage disease, type II	Criteria Provided Multiple Submitters No Conflicts	CA8815511	rs_776325453	4 SubmittersRCV001249046
NM_000152.5(GAA):c.1943G>A (p.Gly648Asp)	SNV Germline	Chr17:80112930	Likely pathogenic	Glycogen storage disease, type II	Criteria Provided Multiple Submitters No Conflicts	CA401369924	rs_1448515860	3 SubmittersRCV001249045
NM_000152.5(GAA):c.1958C>A (p.Thr653Asn)	SNV Germline	Chr17:80112945	Likely pathogenic	Glycogen storage disease, type II	Reviewed By Expert Panel	CA8815557	rs_763456921	5 SubmittersRCV001249044
NM_000152.5(GAA):c.2041-1G>A	SNV Germline	Chr17:80113217	Pathogenic/Likely pathogenic	Glycogen storage disease, type II Familial cancer of breast	Criteria Provided Multiple Submitters No Conflicts	CA8815596	rs_760731229	3 SubmittersRCV001249033 RCV005909192
NM_000152.5(GAA):c.2210C>A (p.Thr737Asn)	SNV Germline	Chr17:80116988	Likely pathogenic	Glycogen storage disease, type II	Criteria Provided Multiple Submitters No Conflicts	CA401324721	rs_1381005435	2 SubmittersRCV001249032
NM_000152.5(GAA):c.2846T>A (p.Val949Asp)	SNV Germline	Chr17:80119318	Conflicting classifications of pathogenicity	Glycogen storage disease, type II Condition: not provided	Criteria Provided Conflicting Classifications	CA401327972	rs_1245412108	5 SubmittersRCV001248925 RCV005633998
NM_000152.5(GAA):c.1657C>T (p.Gln553Ter)	SNV Germline	Chr17:80112003	Pathogenic	Glycogen storage disease, type II Glycogen storage disease due to glucose-6-phosphatase deficiency type IA Condition: not provided	Reviewed By Expert Panel	CA401368835	rs_1221156663	8 SubmittersRCV001261625 RCV001283827 RCV001702092
NM_000152.5(GAA):c.1445C>T (p.Pro482Leu)	SNV Germline	Chr17:80110734	Likely pathogenic	Glycogen storage disease, type II Condition: not provided	Reviewed By Expert Panel	CA401366796	rs_2039212985	8 SubmittersRCV001261923 RCV001780211
NM_000152.5(GAA):c.1001G>A (p.Gly334Asp)	SNV Germline	Chr17:80108335	Pathogenic/Likely pathogenic	Glycogen storage disease, type II	Criteria Provided Multiple Submitters No Conflicts	CA401364535	rs_2039143109	2 SubmittersRCV001261939
NM_000152.5(GAA):c.904G>T (p.Glu302Ter)	SNV Unknown	Chr17:80107845	Likely pathogenic	Glycogen storage disease, type II	Criteria Provided Single Submitter	CA401363984	rs_2039131123	1 SubmittersRCV001263722
NM_000152.5(GAA):c.917C>A (p.Ser306Ter)	SNV Unknown	Chr17:80107858	Likely pathogenic	Glycogen storage disease, type II	Criteria Provided Single Submitter	CA401364041	rs_138097673	1 SubmittersRCV001263723
NM_000152.5(GAA):c.1547G>A (p.Trp516Ter)	SNV Germline	Chr17:80110836	Pathogenic/Likely pathogenic	Glycogen storage disease, type II Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA401367155	rs_2039217093	2 SubmittersRCV001263724 RCV001780215
NM_000152.5(GAA):c.2130C>A (p.Tyr710Ter)	SNV Unknown	Chr17:80113307	Likely pathogenic	Glycogen storage disease, type II	Criteria Provided Single Submitter	CA401370551	rs_2039289942	1 SubmittersRCV001263725
NM_000152.5(GAA):c.2143C>T (p.Gln715Ter)	SNV Germline	Chr17:80113320	Pathogenic/Likely pathogenic	Glycogen storage disease, type II Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA401370578	rs_1275298143	4 SubmittersRCV001263726 RCV005634008
NM_000152.5(GAA):c.2545A>T (p.Lys849Ter)	SNV Unknown	Chr17:80118256	Likely pathogenic	Glycogen storage disease, type II	Criteria Provided Single Submitter	CA401326136	rs_2039403673	1 SubmittersRCV001263815
NM_000152.5(GAA):c.2619C>A (p.Tyr873Ter)	SNV Unknown	Chr17:80118330	Likely pathogenic	Glycogen storage disease, type II	Criteria Provided Single Submitter	CA401326387	rs_1555603132	1 SubmittersRCV001263816
NM_000152.5(GAA):c.1A>T (p.Met1Leu)	SNV Germline	Chr17:80104587	Likely pathogenic	Glycogen storage disease, type II	Reviewed By Expert Panel	CA401359799	rs_786204467	2 SubmittersRCV001265217
NM_000152.5(GAA):c.2T>C (p.Met1Thr)	SNV Germline	Chr17:80104588	Pathogenic	Glycogen storage disease, type II	Reviewed By Expert Panel	CA401359804	rs_2039024047	1 SubmittersRCV001265227
NM_000152.5(GAA):c.763C>T (p.Gln255Ter)	SNV Germline	Chr17:80107627	Pathogenic	Glycogen storage disease, type II	Reviewed By Expert Panel	CA401363371	rs_2039118159	1 SubmittersRCV001265223
NM_000152.5(GAA):c.2040G>A (p.Leu680=)	SNV Germline	Chr17:80113027	Likely pathogenic	Glycogen storage disease, type II Condition: not provided	Reviewed By Expert Panel	CA502179100	rs_2039280842	2 SubmittersRCV001265222 RCV003135906
NM_000152.5(GAA):c.1844G>T (p.Gly615Val)	SNV Germline	Chr17:80112667	Pathogenic	Glycogen storage disease, type II	Criteria Provided Single Submitter	CA401369601	rs_1243515778	1 SubmittersRCV001298620
NM_000152.5(GAA):c.2296T>A (p.Tyr766Asn)	SNV Germline	Chr17:80117074	Conflicting classifications of pathogenicity	Glycogen storage disease, type II Condition: not provided	Criteria Provided Conflicting Classifications	CA294856634	rs_941181575	5 SubmittersRCV001302690 RCV003145534
NM_000152.5(GAA):c.569G>T (p.Arg190Leu)	SNV Germline	Chr17:80105771	Conflicting classifications of pathogenicity	Glycogen storage disease, type II Condition: not provided	Criteria Provided Conflicting Classifications	CA8814930	rs_528367092	5 SubmittersRCV001312414 RCV003145549
NM_000152.5(GAA):c.364A>G (p.Met122Val)	SNV Germline	Chr17:80104950	Likely pathogenic	Glycogen storage disease, type II	Criteria Provided Single Submitter	CA401360899	rs_2039040448	1 SubmittersRCV001350022
NM_000152.5(GAA):c.1103G>A (p.Gly368Asp)	SNV Germline	Chr17:80108516	Likely pathogenic	Glycogen storage disease, type II Condition: not provided	Reviewed By Expert Panel	CA294892175	rs_368244038	5 SubmittersRCV001340781 RCV003145584
NM_000152.5(GAA):c.1106T>C (p.Leu369Pro)	SNV Germline	Chr17:80108519	Likely pathogenic	Glycogen storage disease, type II	Reviewed By Expert Panel	CA401364964	rs_2039149745	4 SubmittersRCV001337394
NM_000152.5(GAA):c.2294G>A (p.Gly765Asp)	SNV Germline	Chr17:80117072	Conflicting classifications of pathogenicity	Glycogen storage disease, type II not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA401324880	rs_1292367136	5 SubmittersRCV001345891 RCV003235554 RCV005634086
NM_000152.5(GAA):c.732G>C (p.Gln244His)	SNV Germline	Chr17:80107596	Conflicting classifications of pathogenicity	Glycogen storage disease, type II Condition: not provided	Criteria Provided Conflicting Classifications	CA401363204	rs_1178922366	3 SubmittersRCV001359163 RCV003132459
NM_000152.5(GAA):c.1633C>T (p.Pro545Ser)	SNV Germline	Chr17:80111022	Likely pathogenic	Glycogen storage disease, type II	Criteria Provided Single Submitter	CA401367384	rs_2143875175	1 SubmittersRCV001372138
NM_000152.5(GAA):c.1551+1G>A	SNV Germline	Chr17:80110841	Pathogenic	Glycogen storage disease, type II Condition: not provided	Reviewed By Expert Panel	CA401367166	rs_770780848	5 SubmittersRCV001375542 RCV005628907
NM_000152.5(GAA):c.1445C>G (p.Pro482Arg)	SNV Germline	Chr17:80110734	Likely pathogenic	Glycogen storage disease, type II Condition: not provided	Reviewed By Expert Panel	CA401366794	rs_2039212985	7 SubmittersRCV001378875 RCV001780289
NM_000152.5(GAA):c.1555A>G (p.Met519Val)	SNV Germline	Chr17:80110944	Conflicting classifications of pathogenicity	Glycogen storage disease, type II Condition: not provided	Criteria Provided Conflicting Classifications	CA401367186	rs_1598581919	6 SubmittersRCV001379276 RCV002223308
NM_000152.5(GAA):c.1134C>A (p.Tyr378Ter)	SNV Germline	Chr17:80108547	Pathogenic	Glycogen storage disease, type II	Criteria Provided Single Submitter	CA401365022	rs_1567830317	1 SubmittersRCV001382744
NM_000152.5(GAA):c.1214T>C (p.Leu405Pro)	SNV Germline	Chr17:80108716	Pathogenic/Likely pathogenic	Glycogen storage disease, type II	Criteria Provided Multiple Submitters No Conflicts	CA401365198	rs_2143857207	2 SubmittersRCV001380442
NM_000152.5(GAA):c.1443G>A (p.Trp481Ter)	SNV Germline	Chr17:80110732	Pathogenic	Glycogen storage disease, type II	Criteria Provided Multiple Submitters No Conflicts	CA401366781	rs_2143871845	2 SubmittersRCV001386359
NM_000152.5(GAA):c.1987C>T (p.Gln663Ter)	SNV Germline	Chr17:80112974	Pathogenic	Glycogen storage disease, type II	Criteria Provided Single Submitter	CA401370018	rs_2143892654	1 SubmittersRCV001382470
NM_000152.5(GAA):c.2167G>A (p.Val723Met)	SNV Germline	Chr17:80113344	Pathogenic/Likely pathogenic	Glycogen storage disease, type II Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA8815635	rs_767247397	4 SubmittersRCV001383433 RCV001780325
NM_000152.5(GAA):c.2392A>G (p.Ile798Val)	SNV Germline	Chr17:80117660	Conflicting classifications of pathogenicity	Glycogen storage disease, type II Condition: not provided	Criteria Provided Conflicting Classifications	CA8815725	rs_752459996	3 SubmittersRCV001468883 RCV006279682
NM_000152.5(GAA):c.610G>A (p.Ala204Thr)	SNV Germline	Chr17:80105812	Conflicting classifications of pathogenicity	Glycogen storage disease, type II	Criteria Provided Conflicting Classifications	CA8814942	rs_780799275	2 SubmittersRCV001494402
NM_000152.5(GAA):c.750C>T (p.Thr250=)	SNV Germline	Chr17:80107614	Conflicting classifications of pathogenicity	Glycogen storage disease, type II Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA502402614	rs_2143846283	3 SubmittersRCV001500553 RCV004995914
NM_000152.5(GAA):c.701C>T (p.Thr234Met)	SNV Germline	Chr17:80107565	Conflicting classifications of pathogenicity	Condition: not provided Glycogen storage disease, type II	Criteria Provided Conflicting Classifications	CA8814994	rs_752054011	5 SubmittersRCV001551208 RCV001832749
NM_000152.5(GAA):c.2482-2A>G	SNV Germline	Chr17:80118191	Pathogenic/Likely pathogenic	Glycogen storage disease, type II Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA8815772	rs_756671283	5 SubmittersRCV001582397 RCV005635186
NM_000152.5(GAA):c.2332-2A>G	SNV Germline	Chr17:80117598	Likely pathogenic	Condition: not provided Glycogen storage disease, type II	Reviewed By Expert Panel	CA401324961	rs_112098197	4 SubmittersRCV001774199 RCV002034486
NM_000152.5(GAA):c.2623C>T (p.Gln875Ter)	SNV Germline	Chr17:80118334	Pathogenic	Condition: not provided Glycogen storage disease, type II	Criteria Provided Multiple Submitters No Conflicts	CA401326401	rs_2143930800	2 SubmittersRCV001783331 RCV003609190
NM_000152.5(GAA):c.309C>A (p.Cys103Ter)	SNV Germline	Chr17:80104895	Pathogenic	Condition: not provided Glycogen storage disease, type II	Criteria Provided Multiple Submitters No Conflicts	CA401360695	rs_373307393	2 SubmittersRCV001783338 RCV003502608
NM_000152.5(GAA):c.2055C>A (p.Tyr685Ter)	SNV Germline	Chr17:80113232	Pathogenic	Condition: not provided Glycogen storage disease, type II	Reviewed By Expert Panel	CA401370359	rs_750214208	2 SubmittersRCV001783340 RCV005645296
NM_000152.5(GAA):c.2161G>T (p.Glu721Ter)	SNV Germline	Chr17:80113338	Pathogenic	Condition: not provided Glycogen storage disease, type II	Reviewed By Expert Panel	CA401370611	rs_140376273	3 SubmittersRCV001785856 RCV003464134
NM_000152.5(GAA):c.2646+1G>A	SNV Germline	Chr17:80118358	Pathogenic/Likely pathogenic	Condition: not provided Glycogen storage disease, type II Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA401326508	rs_2143931061	4 SubmittersRCV001781141 RCV002541194 RCV005831967
NM_000152.5(GAA):c.877G>C (p.Gly293Arg)	SNV Germline	Chr17:80107818	Pathogenic/Likely pathogenic	Condition: not provided Glycogen storage disease, type II	Criteria Provided Multiple Submitters No Conflicts	CA401363876	rs_121907945	2 SubmittersRCV001781143 RCV006616563
NM_000152.5(GAA):c.1703A>T (p.His568Leu)	SNV Germline	Chr17:80112049	Pathogenic/Likely pathogenic	Condition: not provided Glycogen storage disease, type II	Criteria Provided Multiple Submitters No Conflicts	CA401369027	rs_2143882997	3 SubmittersRCV001781144 RCV001885183
NM_000152.5(GAA):c.872T>C (p.Leu291Pro)	SNV Germline	Chr17:80107813	Pathogenic	Glycogen storage disease, type II	Reviewed By Expert Panel	CA401363854	rs_2143849151	1 SubmittersRCV001789730
NM_000152.5(GAA):c.444C>G (p.Tyr148Ter)	SNV Germline	Chr17:80105030	Pathogenic	Glycogen storage disease, type II	Reviewed By Expert Panel	CA401361416	rs_886043112	2 SubmittersRCV001789731
NM_000152.5(GAA):c.1748C>T (p.Ser583Phe)	SNV Germline	Chr17:80112094	Pathogenic/Likely pathogenic	Glycogen storage disease, type II	Criteria Provided Multiple Submitters No Conflicts	CA401369174	rs_2143883845	2 SubmittersRCV001806841
NM_000152.5(GAA):c.1565C>T (p.Pro522Leu)	SNV Germline	Chr17:80110954	Likely pathogenic	Glycogen storage disease, type II	Criteria Provided Single Submitter	CA401367210	rs_2143874287	1 SubmittersRCV002035896
NM_000152.5(GAA):c.2189+3G>C	SNV Germline	Chr17:80113369	Likely pathogenic	Glycogen storage disease, type II	Reviewed By Expert Panel	CA658795276	rs_2143897458	3 SubmittersRCV001913588
NM_000152.5(GAA):c.1075+2T>A	SNV Germline	Chr17:80108411	Likely pathogenic	Glycogen storage disease, type II	Criteria Provided Single Submitter	CA401364844	rs_2143853890	1 SubmittersRCV002046393
NM_000152.5(GAA):c.923A>C (p.His308Pro)	SNV Germline	Chr17:80107864	Pathogenic/Likely pathogenic	Glycogen storage disease, type II Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA401364056	rs_2143849751	3 SubmittersRCV001984443 RCV005635413
NM_000152.5(GAA):c.2131A>C (p.Thr711Pro)	SNV Germline	Chr17:80113308	Likely pathogenic	Glycogen storage disease, type II	Criteria Provided Multiple Submitters No Conflicts	CA401370552	rs_2143896492	2 SubmittersRCV001985774
NM_000152.5(GAA):c.355G>T (p.Gly119Ter)	SNV Germline	Chr17:80104941	Pathogenic/Likely pathogenic	Glycogen storage disease, type II	Criteria Provided Multiple Submitters No Conflicts	CA401360871	rs_1555598802	2 SubmittersRCV001941834
NM_000152.5(GAA):c.1557G>A (p.Met519Ile)	SNV Germline	Chr17:80110946	Pathogenic	Glycogen storage disease, type II	Criteria Provided Multiple Submitters No Conflicts	CA401367190	rs_1447365901	2 SubmittersRCV001933170
NM_000152.5(GAA):c.2109C>A (p.Tyr703Ter)	SNV Germline	Chr17:80113286	Pathogenic	Glycogen storage disease, type II	Criteria Provided Single Submitter	CA401370510	rs_150728610	1 SubmittersRCV001946756
NM_000152.5(GAA):c.2782T>C (p.Tyr928His)	SNV Germline	Chr17:80118788	Likely pathogenic	Glycogen storage disease, type II	Criteria Provided Single Submitter	CA401327369	rs_2143934702	1 SubmittersRCV001998851
NM_000152.5(GAA):c.547-1G>C	SNV Germline	Chr17:80105748	Pathogenic	Glycogen storage disease, type II	Criteria Provided Single Submitter	CA401362012	rs_2143833579	1 SubmittersRCV001959745
NM_000152.5(GAA):c.693-1G>C	SNV Germline	Chr17:80107556	Likely pathogenic	Glycogen storage disease, type II	Criteria Provided Single Submitter	CA401362948	rs_2143845687	1 SubmittersRCV002015607
NM_000152.5(GAA):c.1585T>G (p.Ser529Ala)	SNV Germline	Chr17:80110974	Likely pathogenic	Glycogen storage disease, type II	Criteria Provided Single Submitter	CA401367255	rs_1598582021	1 SubmittersRCV002029051
NM_000152.5(GAA):c.1076-1G>C	SNV Germline	Chr17:80108488	Pathogenic	Glycogen storage disease, type II	Reviewed By Expert Panel	CA401364879	rs_1555600050	3 SubmittersRCV002049620
NM_000152.5(GAA):c.361C>T (p.Gln121Ter)	SNV Germline	Chr17:80104947	Pathogenic/Likely pathogenic	Glycogen storage disease, type II	Criteria Provided Multiple Submitters No Conflicts	CA8814856	rs_750668627	2 SubmittersRCV001876861
NM_000152.5(GAA):c.1463C>T (p.Pro488Leu)	SNV Germline	Chr17:80110752	Conflicting classifications of pathogenicity	Condition: not provided Glycogen storage disease, type II	Criteria Provided Conflicting Classifications	CA401366865	rs_2143872219	2 SubmittersRCV003136406 RCV002003010
NM_000152.5(GAA):c.1798C>G (p.Arg600Gly)	SNV Germline	Chr17:80112621	Likely pathogenic	Glycogen storage disease, type II	Criteria Provided Single Submitter	CA401369421	rs_764670084	1 SubmittersRCV002011686
NM_000152.5(GAA):c.1637-2A>G	SNV Germline	Chr17:80111981	Pathogenic	Glycogen storage disease, type II	Criteria Provided Single Submitter	CA401368702	rs_2143882034	1 SubmittersRCV001960734
NM_000152.5(GAA):c.1118T>G (p.Leu373Arg)	SNV Germline	Chr17:80108531	Conflicting classifications of pathogenicity	Glycogen storage disease, type II Condition: not provided	Criteria Provided Conflicting Classifications	CA401364991	rs_2039150286	3 SubmittersRCV001880433 RCV003136211
NM_000152.5(GAA):c.1846G>A (p.Asp616Asn)	SNV Germline	Chr17:80112669	Pathogenic/Likely pathogenic	Glycogen storage disease, type II Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA294896447	rs_796161389	2 SubmittersRCV001918845 RCV003490935
NM_000152.5(GAA):c.304C>T (p.Gln102Ter)	SNV Germline	Chr17:80104890	Pathogenic	Glycogen storage disease, type II	Criteria Provided Single Submitter	CA401360674	rs_1432841878	1 SubmittersRCV001994841
NM_000152.5(GAA):c.1003G>T (p.Gly335Trp)	SNV Germline	Chr17:80108337	Likely pathogenic	Glycogen storage disease, type II	Criteria Provided Single Submitter	CA401364543	rs_202095215	1 SubmittersRCV002030183
NM_000152.5(GAA):c.2332-16C>T	SNV Germline	Chr17:80117584	Conflicting classifications of pathogenicity	Glycogen storage disease, type II	Criteria Provided Conflicting Classifications	CA2277817555	rs_2039383167	2 SubmittersRCV002037981
NM_000152.5(GAA):c.1376A>T (p.Asp459Val)	SNV Germline	Chr17:80109994	Likely pathogenic	Glycogen storage disease, type II	Criteria Provided Single Submitter	CA401366440	rs_2143866303	1 SubmittersRCV002028157
NM_000152.5(GAA):c.1903A>G (p.Asn635Asp)	SNV Germline	Chr17:80112890	Likely pathogenic	Glycogen storage disease, type II Condition: not provided	Reviewed By Expert Panel	CA401369854	rs_2143891559	6 SubmittersRCV002033332 RCV002261395
NM_000152.5(GAA):c.2481+15C>T	SNV Germline	Chr17:80117764	Conflicting classifications of pathogenicity	Glycogen storage disease, type II	Criteria Provided Conflicting Classifications	CA8815755	rs_771155956	2 SubmittersRCV001991385
NM_000152.5(GAA):c.309C>G (p.Cys103Trp)	SNV Germline	Chr17:80104895	Pathogenic	Glycogen storage disease, type II	Criteria Provided Multiple Submitters No Conflicts	CA401360696	rs_373307393	2 SubmittersRCV001896806
NM_000152.5(GAA):c.859-2A>G	SNV Germline	Chr17:80107798	Pathogenic/Likely pathogenic	Glycogen storage disease, type II	Criteria Provided Multiple Submitters No Conflicts	CA401363787	rs_2143848897	2 SubmittersRCV002030510
NM_000152.5(GAA):c.2131A>G (p.Thr711Ala)	SNV Germline	Chr17:80113308	Likely pathogenic	Glycogen storage disease, type II	Criteria Provided Single Submitter	CA401370553	rs_2143896492	1 SubmittersRCV001961567
NM_000152.5(GAA):c.2040+1G>C	SNV Germline	Chr17:80113028	Pathogenic	Glycogen storage disease, type II	Criteria Provided Single Submitter	CA401370207	rs_1057516928	1 SubmittersRCV001952864
NM_000152.5(GAA):c.308G>A (p.Cys103Tyr)	SNV Germline	Chr17:80104894	Likely pathogenic	Glycogen storage disease, type II	Criteria Provided Single Submitter	CA401360690	rs_2143827215	1 SubmittersRCV002045222
NM_000152.5(GAA):c.138C>G (p.Ser46=)	SNV Germline	Chr17:80104724	Conflicting classifications of pathogenicity	Glycogen storage disease, type II Condition: not provided	Criteria Provided Conflicting Classifications	CA502177138	rs_753375900	3 SubmittersRCV002138198 RCV003134392
NM_000152.5(GAA):c.246C>A (p.Cys82Ter)	SNV Germline	Chr17:80104832	Pathogenic	Glycogen storage disease, type II	Reviewed By Expert Panel	CA401360532	rs_749584846	2 SubmittersRCV002260939
NM_000152.5(GAA):c.1670T>G (p.Ile557Ser)	SNV Germline	Chr17:80112016	Likely pathogenic	Glycogen storage disease, type II	Reviewed By Expert Panel	CA401368920	rs_1408164312	1 SubmittersRCV002260940
NM_000152.5(GAA):c.1385T>C (p.Leu462Pro)	SNV Germline	Chr17:80110003	Likely pathogenic	Glycogen storage disease, type II	Reviewed By Expert Panel	CA401366477	rs_2143866454	2 SubmittersRCV002260941
NM_000152.5(GAA):c.2456G>C (p.Arg819Pro)	SNV Germline	Chr17:80117724	Likely pathogenic	Glycogen storage disease, type II Condition: not provided	Reviewed By Expert Panel	CA401325305	rs_374687883	4 SubmittersRCV002260943 RCV003491062
NM_000152.5(GAA):c.2411G>A (p.Trp804Ter)	SNV Germline	Chr17:80117679	Pathogenic	Glycogen storage disease, type II	Reviewed By Expert Panel	CA401325125	rs_2143925134	3 SubmittersRCV002260945
NM_000152.5(GAA):c.2738C>G (p.Pro913Arg)	SNV Germline	Chr17:80118744	Conflicting classifications of pathogenicity	Condition: not provided Glycogen storage disease, type II	Criteria Provided Conflicting Classifications	CA401327099	rs_1480070037	2 SubmittersRCV002275756 RCV006470397
NM_000152.5(GAA):c.1106T>A (p.Leu369Gln)	SNV Germline	Chr17:80108519	Likely pathogenic	Glycogen storage disease, type II	Criteria Provided Single Submitter	CA401364963	rs_2039149745	1 SubmittersRCV002289401
NM_000152.5(GAA):c.1497G>A (p.Trp499Ter)	SNV Germline	Chr17:80110786	Pathogenic	Condition: not provided Glycogen storage disease, type II	Reviewed By Expert Panel	CA401367008	rs_2510373982	2 SubmittersRCV002292963 RCV005645374
NM_000152.5(GAA):c.2319C>A (p.Tyr773Ter)	SNV Unknown	Chr17:80117097	Likely pathogenic	Glycogen storage disease, type II	Criteria Provided Single Submitter	CA401324932	rs_377402848	1 SubmittersRCV002308077
NM_000152.5(GAA):c.1020C>G (p.Tyr340Ter)	SNV Unknown	Chr17:80108354	Likely pathogenic	Glycogen storage disease, type II	Criteria Provided Single Submitter	CA401364608	rs_1358917187	1 SubmittersRCV002306891
NM_000152.5(GAA):c.1720C>T (p.Leu574Phe)	SNV Germline	Chr17:80112066	Conflicting classifications of pathogenicity	Cardiovascular phenotype Glycogen storage disease, type II	Criteria Provided Conflicting Classifications	CA401369071	rs_1334888803	2 SubmittersRCV002399054 RCV006470979
NM_000152.5(GAA):c.546+2T>C	SNV Germline	Chr17:80105134	Likely pathogenic	Glycogen storage disease, type II	Criteria Provided Single Submitter	CA401361919	rs_2510347655	1 SubmittersRCV003064492
NM_000152.5(GAA):c.1054C>T (p.Gln352Ter)	SNV Germline	Chr17:80108388	Pathogenic	Glycogen storage disease, type II	Criteria Provided Single Submitter	CA294891876	rs_764355476	1 SubmittersRCV003064493
NM_000152.5(GAA):c.1827C>G (p.Tyr609Ter)	SNV Germline	Chr17:80112650	Pathogenic	Glycogen storage disease, type II	Reviewed By Expert Panel	CA401369534	rs_745754277	2 SubmittersRCV003050496
NM_000152.5(GAA):c.922C>G (p.His308Asp)	SNV Germline	Chr17:80107863	Likely pathogenic	Glycogen storage disease, type II	Criteria Provided Single Submitter	CA401364054	rs_112025212	2 SubmittersRCV003073819
NM_000152.5(GAA):c.1309C>A (p.Arg437Ser)	SNV Germline	Chr17:80108811	Conflicting classifications of pathogenicity	Glycogen storage disease, type II Condition: not provided	Criteria Provided Conflicting Classifications	CA401365399	rs_770610356	2 SubmittersRCV003083785 RCV004790354
NM_000152.5(GAA):c.1396G>T (p.Val466Phe)	SNV Germline	Chr17:80110014	Likely pathogenic	Glycogen storage disease, type II	Criteria Provided Multiple Submitters No Conflicts	CA401366509	rs_375006053	2 SubmittersRCV003081787
NM_000152.5(GAA):c.1477C>T (p.Pro493Ser)	SNV Germline	Chr17:80110766	Likely pathogenic	Glycogen storage disease, type II Condition: not provided	Reviewed By Expert Panel	CA401366926	rs_1555600755	3 SubmittersRCV003087709 RCV003143480
NM_000152.5(GAA):c.1645G>A (p.Gly549Arg)	SNV Germline	Chr17:80111991	Pathogenic	Glycogen storage disease, type II	Criteria Provided Single Submitter	CA401368765	rs_780800306	1 SubmittersRCV002629939
NM_000152.5(GAA):c.1853G>A (p.Trp618Ter)	SNV Germline	Chr17:80112676	Pathogenic	Glycogen storage disease, type II Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA401369637	rs_1384805011	3 SubmittersRCV003112390 RCV005636836
NM_000152.5(GAA):c.2619C>G (p.Tyr873Ter)	SNV Germline	Chr17:80118330	Pathogenic	Glycogen storage disease, type II	Criteria Provided Single Submitter	CA401326389	rs_1555603132	1 SubmittersRCV003112391
NM_000152.5(GAA):c.844G>C (p.Asp282His)	SNV Germline	Chr17:80107708	Pathogenic/Likely pathogenic	Glycogen storage disease, type II	Criteria Provided Multiple Submitters No Conflicts	CA401363671	rs_1264889089	4 SubmittersRCV002512505
NM_000152.5(GAA):c.1827C>A (p.Tyr609Ter)	SNV Germline	Chr17:80112650	Pathogenic	Glycogen storage disease, type II	Criteria Provided Single Submitter	CA401369533	rs_745754277	1 SubmittersRCV002580333
NM_000152.5(GAA):c.2040+2T>G	SNV Germline	Chr17:80113029	Pathogenic/Likely pathogenic	Glycogen storage disease, type II	Criteria Provided Multiple Submitters No Conflicts	CA401370214	rs_2510384401	2 SubmittersRCV002643069
NM_000152.5(GAA):c.1754+2T>C	SNV Germline	Chr17:80112102	Likely pathogenic	Glycogen storage disease, type II	Reviewed By Expert Panel	CA401369202	rs_2143884018	2 SubmittersRCV002667301
NM_000152.5(GAA):c.700A>G (p.Thr234Ala)	SNV Germline	Chr17:80107564	Conflicting classifications of pathogenicity	Condition: not provided Glycogen storage disease, type II	Criteria Provided Conflicting Classifications	CA8814993	rs_766931184	3 SubmittersRCV003146611 RCV002740069
NM_000152.5(GAA):c.2238G>T (p.Trp746Cys)	SNV Germline	Chr17:80117016	Likely pathogenic	Glycogen storage disease, type II	Reviewed By Expert Panel	CA401324771	rs_1800312	2 SubmittersRCV002745939
NM_000152.5(GAA):c.1848C>A (p.Asp616Glu)	SNV Germline	Chr17:80112671	Conflicting classifications of pathogenicity	Glycogen storage disease, type II Condition: not provided	Criteria Provided Conflicting Classifications	CA401369615	rs_377175810	2 SubmittersRCV002726308 RCV005635601
NM_000152.5(GAA):c.2800-1G>A	SNV Germline	Chr17:80119271	Conflicting classifications of pathogenicity	Glycogen storage disease, type II	Criteria Provided Conflicting Classifications	CA401327621	rs_1328159128	2 SubmittersRCV002761303
NM_000152.5(GAA):c.265C>A (p.Arg89Ser)	SNV Germline	Chr17:80104851	Likely pathogenic	Glycogen storage disease, type II	Criteria Provided Single Submitter	CA401360567	rs_534192892	1 SubmittersRCV002795518
NM_000152.5(GAA):c.1285C>T (p.Gln429Ter)	SNV Germline	Chr17:80108787	Pathogenic	Glycogen storage disease, type II	Criteria Provided Single Submitter	CA401365353	rs_528369909	1 SubmittersRCV002796176
NM_000152.5(GAA):c.739C>T (p.Gln247Ter)	SNV Germline	Chr17:80107603	Pathogenic	Glycogen storage disease, type II	Criteria Provided Single Submitter	CA401363242	rs_2510357571	1 SubmittersRCV002856619
NM_000152.5(GAA):c.2577G>A (p.Trp859Ter)	SNV Germline	Chr17:80118288	Pathogenic	Glycogen storage disease, type II	Criteria Provided Multiple Submitters No Conflicts	CA8815791	rs_757577323	2 SubmittersRCV002871829
NM_000152.5(GAA):c.1370C>G (p.Pro457Arg)	SNV Germline	Chr17:80109988	Pathogenic/Likely pathogenic	Glycogen storage disease, type II	Criteria Provided Multiple Submitters No Conflicts	CA401366413	rs_2039191855	2 SubmittersRCV002877500
NM_000152.5(GAA):c.2647-2A>G	SNV Germline	Chr17:80118651	Likely pathogenic	Glycogen storage disease, type II	Criteria Provided Multiple Submitters No Conflicts	CA401326568	rs_2510404041	3 SubmittersRCV002966541
NM_000152.5(GAA):c.1314C>A (p.Tyr438Ter)	SNV Germline	Chr17:80108816	Pathogenic	Glycogen storage disease, type II	Criteria Provided Single Submitter	CA401365408	rs_1333715186	1 SubmittersRCV002949368
NM_000152.5(GAA):c.990G>C (p.Trp330Cys)	SNV Germline	Chr17:80108324	Likely pathogenic	Glycogen storage disease, type II	Criteria Provided Single Submitter	CA401364494	rs_2510362025	1 SubmittersRCV002966164
NM_000152.5(GAA):c.693-2A>C	SNV Germline	Chr17:80107555	Likely pathogenic	Glycogen storage disease, type II	Criteria Provided Single Submitter	CA401362933	rs_1555599571	1 SubmittersRCV003021550
NM_000152.5(GAA):c.1646G>A (p.Gly549Glu)	SNV Germline	Chr17:80111992	Likely pathogenic	Glycogen storage disease, type II	Criteria Provided Single Submitter	CA401368771	rs_2039246325	1 SubmittersRCV003007973
NM_000152.5(GAA):c.1819G>T (p.Gly607Cys)	SNV Germline	Chr17:80112642	Likely pathogenic	Glycogen storage disease, type II	Criteria Provided Single Submitter	CA401369504	rs_940955642	1 SubmittersRCV003030285
NM_000152.5(GAA):c.584T>A (p.Leu195Ter)	SNV Germline	Chr17:80105786	Pathogenic	Glycogen storage disease, type II	Criteria Provided Single Submitter	CA401362172	rs_2510350392	1 SubmittersRCV003054939
NM_000152.5(GAA):c.1571A>C (p.Asn524Thr)	SNV Germline	Chr17:80110960	Conflicting classifications of pathogenicity	Condition: not provided Glycogen storage disease, type II	Criteria Provided Conflicting Classifications	CA401367221	rs_1379211438	2 SubmittersRCV003143450 RCV005099408
NM_000152.5(GAA):c.874T>C (p.Tyr292His)	SNV Germline	Chr17:80107815	Conflicting classifications of pathogenicity	Condition: not provided Glycogen storage disease, type II	Criteria Provided Conflicting Classifications	CA401363862	rs_2510359237	2 SubmittersRCV003143451 RCV003609257
NM_000152.5(GAA):c.1861T>C (p.Trp621Arg)	SNV Germline	Chr17:80112684	Conflicting classifications of pathogenicity	Condition: not provided Glycogen storage disease, type II	Criteria Provided Conflicting Classifications	CA401369676	rs_1327361418	3 SubmittersRCV003144096 RCV003237380
NM_000152.5(GAA):c.1441T>A (p.Trp481Arg)	SNV Germline	Chr17:80110730	Conflicting classifications of pathogenicity	Condition: not provided Glycogen storage disease, type II	Criteria Provided Conflicting Classifications	CA401366772	rs_772883420	3 SubmittersRCV003144097 RCV003778883
NM_000152.5(GAA):c.1940G>A (p.Cys647Tyr)	SNV Germline	Chr17:80112927	Conflicting classifications of pathogenicity	Condition: not provided Glycogen storage disease, type II	Criteria Provided Conflicting Classifications	CA401369918	rs_1265892085	2 SubmittersRCV003130956 RCV003609256
NM_000152.5(GAA):c.1552-2A>C	SNV Germline	Chr17:80110939	Pathogenic	Condition: not provided Glycogen storage disease, type II	Criteria Provided Multiple Submitters No Conflicts	CA401367172	rs_1555600846	2 SubmittersRCV003145767 RCV006473705
NM_000152.5(GAA):c.1663G>C (p.Ala555Pro)	SNV Germline	Chr17:80112009	Likely pathogenic	Glycogen storage disease, type II	Criteria Provided Single Submitter	CA401368873	rs_2510378539	1 SubmittersRCV003155907
NM_000152.5(GAA):c.1673G>A (p.Cys558Tyr)	SNV Germline	Chr17:80112019	Conflicting classifications of pathogenicity	Glycogen storage disease, type II not specified	Criteria Provided Conflicting Classifications	CA401368933	rs_2510378592	2 SubmittersRCV003229549 RCV005406653
NM_000152.5(GAA):c.1525C>T (p.Gln509Ter)	SNV Germline	Chr17:80110814	Likely pathogenic	Glycogen storage disease, type II	Criteria Provided Single Submitter	CA401367107	rs_2510374041	1 SubmittersRCV003234748
NM_000152.5(GAA):c.2481+1G>T	SNV Germline	Chr17:80117750	Likely pathogenic	Glycogen storage disease, type II	Criteria Provided Single Submitter	CA401325551	rs_2510400033	1 SubmittersRCV003236602
NM_000152.5(GAA):c.2303C>T (p.Pro768Leu)	SNV Germline	Chr17:80117081	Likely pathogenic	Glycogen storage disease, type II	Criteria Provided Multiple Submitters No Conflicts	CA401324900	rs_2510396780	2 SubmittersRCV003238171
NM_000152.5(GAA):c.2702T>A (p.Leu901Gln)	SNV Germline	Chr17:80118708	Pathogenic	Glycogen storage disease, type II	Criteria Provided Single Submitter	CA401326888	rs_2510404334	1 SubmittersRCV003337919
NM_000152.5(GAA):c.1466A>G (p.Asp489Gly)	SNV Unknown	Chr17:80110755	Likely pathogenic	Glycogen storage disease, type II	Criteria Provided Single Submitter	CA401366876	rs_2510373785	1 SubmittersRCV003391170
NM_000152.5(GAA):c.1456G>C (p.Ala486Pro)	SNV Germline	Chr17:80110745	Likely pathogenic	Glycogen storage disease, type II	Criteria Provided Multiple Submitters No Conflicts	CA401366835	rs_1283045273	2 SubmittersRCV003461594

SNV
Germline

Chr17:80107894

Pathogenic

Condition: not provided
Glycogen storage disease, type II

Reviewed By Expert Panel

CA116590

rs_121907936

13 SubmittersRCV000727662 RCV000780268

NM_000152.5(GAA):c.1561G>A (p.Glu521Lys)

SNV
Germline

Chr17:80110950

Pathogenic

Glycogen storage disease, type II
Condition: not provided

Reviewed By Expert Panel

CA116593

rs_121907937

11 SubmittersRCV000169465 RCV003137489

NM_000152.5(GAA):c.1927G>A (p.Gly643Arg)

SNV
Germline

Chr17:80112914

Pathogenic

Glycogen storage disease, type II
Condition: not provided
Glycogen storage disease due to acid maltase deficiency, late-onset

Reviewed By Expert Panel

CA116596

rs_28937909

15 SubmittersRCV000409137 RCV000788193 RCV006262317

NM_000152.5(GAA):c.2173C>T (p.Arg725Trp)

SNV
Germline

Chr17:80113350

Pathogenic

Glycogen storage disease, type II
Condition: not provided
Glycogen storage disease due to acid maltase deficiency, late-onset

Reviewed By Expert Panel

CA116598

rs_121907938

11 SubmittersRCV000169045 RCV001569366 RCV006262318

NM_000152.5(GAA):c.896T>G (p.Leu299Arg)

SNV
Germline

Chr17:80107837

Likely pathogenic

Glycogen storage disease, type II

Reviewed By Expert Panel

CA116601

rs_121907940

3 SubmittersRCV000795023

NM_000152.5(GAA):c.-32-13T>G

SNV
Germline

Chr17:80104542

Pathogenic

Glycogen storage disease, type II
Condition: not provided
Myopathy
Glycogen storage disease, type IV
Glycogen storage disease due to acid maltase deficiency, late-onset
GAA-related disorder
Cardiovascular phenotype
See cases
Uterine corpus endometrial carcinoma
Ovarian serous cystadenocarcinoma
Thymoma
Malignant tumor of esophagus
Cervical cancer
Glycogen storage disease
Sarcoma

Reviewed By Expert Panel

CA116606

rs_386834236

60 SubmittersRCV000055770 RCV000153285 RCV000626740 RCV002288463 RCV002225068 RCV003415646 RCV002321471 RCV004797752 RCV005887289 RCV005887287 RCV005887288 RCV005887284 RCV005887285 RCV005638398 RCV005887286

NM_000152.5(GAA):c.1935C>A (p.Asp645Glu)

SNV
Germline

Chr17:80112922

Pathogenic

Glycogen storage disease, type II
Condition: not provided
Cardiovascular phenotype
GAA-related disorder

Reviewed By Expert Panel

CA116610

rs_28940868

16 SubmittersRCV000055768 RCV001785448 RCV004018551 RCV004751197

NM_000152.5(GAA):c.1634C>T (p.Pro545Leu)

SNV
Germline

Chr17:80111023

Pathogenic

Glycogen storage disease, type II
Condition: not provided
Glycogen storage disease due to acid maltase deficiency, late-onset

Criteria Provided
Multiple Submitters
No Conflicts

CA116616

rs_121907942

7 SubmittersRCV001174962 RCV001785449 RCV006262320

NM_000152.5(GAA):c.2560C>T (p.Arg854Ter)

SNV
Germline

Chr17:80118271

Pathogenic

Glycogen storage disease, type II
Condition: not provided
GAA-related disorder
Cardiovascular phenotype
Glycogen storage disease due to acid maltase deficiency, late-onset

Reviewed By Expert Panel

CA340130

rs_121907943

29 SubmittersRCV000004249 RCV000255539 RCV003904805 RCV004991965 RCV006263618

NM_000152.5(GAA):c.877G>A (p.Gly293Arg)

SNV
Germline

Chr17:80107818

Pathogenic

Glycogen storage disease, type II
Condition: not provided
Glycogen storage disease due to acid maltase deficiency, late-onset

Reviewed By Expert Panel

CA116622

rs_121907945

13 SubmittersRCV000578430 RCV000728952 RCV006262322

NM_000152.5(GAA):c.1465G>A (p.Asp489Asn)

SNV
Germline

Chr17:80110754

Pathogenic

Glycogen storage disease, type II
Condition: not provided

Reviewed By Expert Panel

CA220390

rs_398123169

10 SubmittersRCV000173646 RCV000790665

NM_000152.5(GAA):c.2105G>T (p.Arg702Leu)

SNV
Germline

Chr17:80113282

Pathogenic

Condition: not provided
Glycogen storage disease, type II

Reviewed By Expert Panel

CA220396

rs_398123172

6 SubmittersRCV000174831 RCV000792061

NM_000152.5(GAA):c.2512C>T (p.Gln838Ter)

SNV
Germline

Chr17:80118223

Pathogenic

Condition: not provided
Glycogen storage disease, type II

Reviewed By Expert Panel

CA220400

rs_369532274

7 SubmittersRCV000175263 RCV001200861

NM_000152.5(GAA):c.1841C>A (p.Thr614Lys)

SNV
Germline

Chr17:80112664

Pathogenic

Glycogen storage disease, type II
Condition: not provided

Reviewed By Expert Panel

CA234050

rs_369531647

14 SubmittersRCV000591376 RCV000723464

NM_000152.5(GAA):c.1219T>C (p.Tyr407His)

SNV
Germline

Chr17:80108721

Conflicting classifications of pathogenicity

Condition: not provided
Glycogen storage disease, type II

Criteria Provided
Conflicting Classifications

CA234047

rs_727503939

5 SubmittersRCV000153288 RCV001326695

NM_000152.5(GAA):c.1004G>A (p.Gly335Glu)

SNV
Germline

Chr17:80108338

Likely pathogenic

Glycogen storage disease, type II
Condition: not provided

Reviewed By Expert Panel

CA273683

rs_730880022

5 SubmittersRCV000156939 RCV001579766

NM_000152.5(GAA):c.896T>C (p.Leu299Pro)

SNV
Germline

Chr17:80107837

Pathogenic

Glycogen storage disease, type II
Condition: not provided

Reviewed By Expert Panel

CA273686

rs_121907940

9 SubmittersRCV000156941 RCV001310382

NM_000152.5(GAA):c.1437G>A (p.Lys479=)

SNV
Germline

Chr17:80110055

Likely pathogenic

Glycogen storage disease, type II

Criteria Provided
Single Submitter

CA275914

rs_796051877

2 SubmittersRCV000186551

NM_000152.5(GAA):c.915G>A (p.Gly305=)

SNV
Germline

Chr17:80107856

Conflicting classifications of pathogenicity

Condition: not provided
Glycogen storage disease, type II
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA198779

rs_150343359

11 SubmittersRCV000723389 RCV001079201 RCV002372058

NM_000152.5(GAA):c.2237G>C (p.Trp746Ser)

SNV
Germline

Chr17:80117015

Likely pathogenic

Glycogen storage disease, type II
Condition: not provided

Reviewed By Expert Panel

CA198797

rs_752921215

13 SubmittersRCV000626060 RCV001781520

NM_000152.5(GAA):c.1A>G (p.Met1Val)

SNV
Germline

Chr17:80104587

Pathogenic

Glycogen storage disease, type II
Condition: not provided

Reviewed By Expert Panel

CA273952

rs_786204467

7 SubmittersRCV000169114 RCV005632279

NM_000152.5(GAA):c.172C>T (p.Gln58Ter)

SNV
Germline

Chr17:80104758

Pathogenic

Glycogen storage disease, type II

Reviewed By Expert Panel

CA274104

rs_201185475

4 SubmittersRCV000169263

NM_000152.5(GAA):c.343C>T (p.Gln115Ter)

SNV
Germline

Chr17:80104929

Pathogenic

Glycogen storage disease, type II

Reviewed By Expert Panel

CA274228

rs_786204614

4 SubmittersRCV000169376

NM_000152.5(GAA):c.569G>A (p.Arg190His)

SNV
Germline

Chr17:80105771

Pathogenic/Likely pathogenic

Glycogen storage disease, type II
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA273988

rs_528367092

11 SubmittersRCV000169143 RCV003144146 RCV004020013

NM_000152.5(GAA):c.655G>A (p.Gly219Arg)

SNV
Germline

Chr17:80105857

Pathogenic

Glycogen storage disease, type II
Condition: not provided
GAA-related disorder

Reviewed By Expert Panel

CA274334

rs_370950728

13 SubmittersRCV000169462 RCV000481943 RCV004751318

NM_000152.5(GAA):c.670C>T (p.Arg224Trp)

SNV
Germline

Chr17:80105872

Pathogenic

Glycogen storage disease, type II
Condition: not provided
GAA-related disorder
Cardiovascular phenotype

Reviewed By Expert Panel

CA274477

rs_757700700

17 SubmittersRCV000169620 RCV000272542 RCV004751320 RCV005562312

NM_000152.5(GAA):c.784G>A (p.Glu262Lys)

SNV
Germline

Chr17:80107648

Pathogenic

Glycogen storage disease, type II
Condition: not provided

Reviewed By Expert Panel

CA273984

rs_201896815

12 SubmittersRCV000169139 RCV000727645

NM_000152.5(GAA):c.925G>A (p.Gly309Arg)

SNV
Germline

Chr17:80107866

Pathogenic

Glycogen storage disease, type II
Condition: not provided

Reviewed By Expert Panel

CA273972

rs_543300039

19 SubmittersRCV000169127 RCV000723463

NM_000152.5(GAA):c.1156C>T (p.Gln386Ter)

SNV
Germline

Chr17:80108569

Pathogenic

Glycogen storage disease, type II

Reviewed By Expert Panel

CA274049

rs_786204517

2 SubmittersRCV000169210

NM_000152.5(GAA):c.1309C>T (p.Arg437Cys)

SNV
Germline

Chr17:80108811

Pathogenic

Glycogen storage disease, type II
Condition: not provided

Reviewed By Expert Panel

CA274356

rs_770610356

13 SubmittersRCV000169488 RCV001781528

NM_000152.5(GAA):c.1438-1G>C

SNV
Germline

Chr17:80110726

Pathogenic

Glycogen storage disease, type II
Condition: not provided

Reviewed By Expert Panel

CA274472

rs_147804176

11 SubmittersRCV000169615 RCV000727411

NM_000152.5(GAA):c.1441T>C (p.Trp481Arg)

SNV
Germline

Chr17:80110730

Pathogenic

Glycogen storage disease, type II
Condition: not provided
Cardiovascular phenotype

Reviewed By Expert Panel

CA274247

rs_772883420

15 SubmittersRCV000169391 RCV002223801 RCV005338091

NM_000152.5(GAA):c.1548G>A (p.Trp516Ter)

SNV
Germline

Chr17:80110837

Pathogenic

Glycogen storage disease, type II
Condition: not provided
GAA-related disorder

Reviewed By Expert Panel

CA274281

rs_140826989

23 SubmittersRCV000169414 RCV000723388 RCV004751317

NM_000152.5(GAA):c.1556T>C (p.Met519Thr)

SNV
Germline

Chr17:80110945

Pathogenic

Glycogen storage disease, type II
Condition: not provided

Reviewed By Expert Panel

CA274402

rs_786204720

12 SubmittersRCV000169538 RCV000726790

NM_000152.5(GAA):c.1843G>A (p.Gly615Arg)

SNV
Germline

Chr17:80112666

Likely pathogenic

Glycogen storage disease, type II
Condition: not provided

Reviewed By Expert Panel

CA273955

rs_549029029

10 SubmittersRCV000169115 RCV001781521

NM_000152.5(GAA):c.1933G>A (p.Asp645Asn)

SNV
Germline

Chr17:80112920

Pathogenic

Glycogen storage disease, type II
Condition: not provided

Reviewed By Expert Panel

CA273892

rs_368438393

13 SubmittersRCV000169030 RCV000483035

NM_000152.5(GAA):c.1933G>C (p.Asp645His)

SNV
Germline

Chr17:80112920

Pathogenic

Glycogen storage disease, type II
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA274256

rs_368438393

7 SubmittersRCV000169400 RCV003488416

NM_000152.5(GAA):c.1942G>A (p.Gly648Ser)

SNV
Germline

Chr17:80112929

Pathogenic

Glycogen storage disease, type II
Condition: not provided

Reviewed By Expert Panel

CA274102

rs_536906561

12 SubmittersRCV000169262 RCV001781523

NM_000152.5(GAA):c.1979G>A (p.Arg660His)

SNV
Germline

Chr17:80112966

Pathogenic

Glycogen storage disease, type II
Condition: not provided
GAA-related disorder

Reviewed By Expert Panel

CA274455

rs_374143224

16 SubmittersRCV000169600 RCV000256037 RCV003895169

NM_000152.5(GAA):c.2014C>T (p.Arg672Trp)

SNV
Germline

Chr17:80113001

Pathogenic

Glycogen storage disease, type II
Condition: not provided

Reviewed By Expert Panel

CA273939

rs_757111744

11 SubmittersRCV000169099 RCV000725325

NM_000152.5(GAA):c.2104C>T (p.Arg702Cys)

SNV
Germline

Chr17:80113281

Pathogenic

Glycogen storage disease, type II
Condition: not provided

Reviewed By Expert Panel

CA274304

rs_786204645

13 SubmittersRCV000169431 RCV001090261

NM_000152.5(GAA):c.2608C>T (p.Arg870Ter)

SNV
Germline

Chr17:80118319

Pathogenic

Glycogen storage disease, type II
Condition: not provided

Reviewed By Expert Panel

CA274250

rs_780321415

17 SubmittersRCV000169394 RCV000723528

NM_000152.5(GAA):c.2646+2T>A

SNV
Germline

Chr17:80118359

Likely pathogenic

Glycogen storage disease, type II
Condition: not provided

Reviewed By Expert Panel

CA274134

rs_786204561

6 SubmittersRCV000169291 RCV001781525

NM_000152.5(GAA):c.1583G>C (p.Gly528Ala)

SNV
Germline

Chr17:80110972

Likely pathogenic

Condition: not provided
Glycogen storage disease, type II

Criteria Provided
Multiple Submitters
No Conflicts

CA239454

rs_794727016

3 SubmittersRCV000173980 RCV002516609

NM_000152.5(GAA):c.1802C>T (p.Ser601Leu)

SNV
Germline

Chr17:80112625

Pathogenic

Condition: not provided
Glycogen storage disease, type II

Reviewed By Expert Panel

CA274982

rs_374470794

12 SubmittersRCV000174449 RCV001242470

NM_000152.5(GAA):c.1889-5C>T

SNV
Germline

Chr17:80112871

Conflicting classifications of pathogenicity

Condition: not provided
Glycogen storage disease, type II

Criteria Provided
Conflicting Classifications

CA240225

rs_794727115

4 SubmittersRCV000174661 RCV001128431

NM_000152.5(GAA):c.2156C>A (p.Ala719Glu)

SNV
Germline

Chr17:80113333

Conflicting classifications of pathogenicity

Glycogen storage disease, type II
Condition: not provided
Cardiovascular phenotype
GAA-related disorder

Criteria Provided
Conflicting Classifications

CA240427

rs_146762316

11 SubmittersRCV000540247 RCV000657136 RCV005328220 RCV004751332

NM_000152.5(GAA):c.2157G>A (p.Ala719=)

SNV
Germline

Chr17:80113334

Conflicting classifications of pathogenicity

Condition: not provided
Glycogen storage disease, type II
not specified
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA240430

rs_201523530

8 SubmittersRCV000724450 RCV001087616 RCV002265659 RCV002426832

NM_000152.5(GAA):c.2415G>A (p.Val805=)

SNV
Germline

Chr17:80117683

Conflicting classifications of pathogenicity

Glycogen storage disease, type II
Condition: not provided
not specified
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA240812

rs_150536507

12 SubmittersRCV000390395 RCV000724845 RCV002222424 RCV002453612

NM_000152.5(GAA):c.2739C>G (p.Pro913=)

SNV
Germline

Chr17:80118745

Conflicting classifications of pathogenicity

Condition: not provided
Glycogen storage disease, type II
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA241130

rs_370765733

6 SubmittersRCV000175390 RCV001082677 RCV002433767

NM_000152.5(GAA):c.854C>G (p.Pro285Arg)

SNV
Germline

Chr17:80107718

Likely pathogenic

Glycogen storage disease, type II
Condition: not provided
Cardiovascular phenotype

Reviewed By Expert Panel

CA358045

rs_764622267

6 SubmittersRCV000797884 RCV003488466 RCV004017497

NM_000152.5(GAA):c.32G>A (p.Arg11Gln)

SNV
Germline

Chr17:80104618

Conflicting classifications of pathogenicity

not specified
Glycogen storage disease, type II
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA8814760

rs_138812846

8 SubmittersRCV000250396 RCV000525907 RCV000724696 RCV004992133

NM_000152.5(GAA):c.876C>T (p.Tyr292=)

SNV
Germline

Chr17:80107817

Conflicting classifications of pathogenicity

not specified
Glycogen storage disease, type II
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8815080

rs_763216519

5 SubmittersRCV000248640 RCV000884808 RCV003298324 RCV003144176

NM_000152.5(GAA):c.1599C>T (p.Cys533=)

SNV
Germline

Chr17:80110988

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Glycogen storage disease, type II
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA8815389

rs_142766716

8 SubmittersRCV000242369 RCV000725491 RCV001088621 RCV002401952

NM_000152.5(GAA):c.2238G>C (p.Trp746Cys)

SNV
Germline

Chr17:80117016

Pathogenic

Condition: not provided
Glycogen storage disease, type II
Glycogen storage disease
GAA-related disorder
Cardiovascular phenotype

Reviewed By Expert Panel

CA8815665

rs_1800312

29 SubmittersRCV000254988 RCV000283919 RCV000825562 RCV003920023 RCV004021024

NM_000152.5(GAA):c.1655T>C (p.Leu552Pro)

SNV
Germline

Chr17:80112001

Pathogenic

Condition: not provided
Glycogen storage disease, type II
GAA-related disorder

Reviewed By Expert Panel

CA8815429

rs_779556619

20 SubmittersRCV000288533 RCV000381512 RCV004751411

NM_000152.5(GAA):c.2237G>A (p.Trp746Ter)

SNV
Germline

Chr17:80117015

Pathogenic

Condition: not provided
Glycogen storage disease, type II

Reviewed By Expert Panel

CA8815664

rs_752921215

12 SubmittersRCV000302789 RCV000501120

NM_000152.5(GAA):c.1912G>T (p.Gly638Trp)

SNV
Germline

Chr17:80112899

Pathogenic

Condition: not provided
Glycogen storage disease, type II

Reviewed By Expert Panel

CA8815545

rs_757617999

12 SubmittersRCV000333327 RCV001243631

NM_000152.5(GAA):c.546G>A (p.Thr182=)

SNV
Germline

Chr17:80105132

Pathogenic

Glycogen storage disease, type II
Condition: not provided
Glycogen storage disease
GAA-related disorder
Clear cell carcinoma of kidney

Reviewed By Expert Panel

CA8814895

rs_143523371

19 SubmittersRCV000385549 RCV000723387 RCV004017580 RCV004751413 RCV005895485

NM_000152.5(GAA):c.853C>T (p.Pro285Ser)

SNV
Germline

Chr17:80107717

Likely pathogenic

Glycogen storage disease, type II
Condition: not provided

Reviewed By Expert Panel

CA10603793

rs_886042086

10 SubmittersRCV000383868 RCV000723486

NM_000152.5(GAA):c.546G>C (p.Thr182=)

SNV
Germline

Chr17:80105132

Pathogenic

Condition: not provided
Glycogen storage disease, type II

Reviewed By Expert Panel

CA10603795

rs_143523371

9 SubmittersRCV000361874 RCV001249018

NM_000152.5(GAA):c.693-4G>T

SNV
Germline

Chr17:80107553

Conflicting classifications of pathogenicity

Condition: not provided
Glycogen storage disease, type II
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA8814991

rs_200088236

12 SubmittersRCV000723555 RCV001079986 RCV006342202

NM_000152.5(GAA):c.2323C>A (p.Leu775Met)

SNV
Germline

Chr17:80117101

Conflicting classifications of pathogenicity

Condition: not provided
Glycogen storage disease, type II
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA8815687

rs_147290429

6 SubmittersRCV000331593 RCV000529044 RCV002450800

NM_000152.5(GAA):c.1425G>A (p.Pro475=)

SNV
Germline

Chr17:80110043

Conflicting classifications of pathogenicity

Condition: not provided
Glycogen storage disease, type II
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA8815315

rs_753140491

6 SubmittersRCV000387536 RCV001080587 RCV002392796

NM_000152.5(GAA):c.1947C>T (p.Phe649=)

SNV
Germline

Chr17:80112934

Conflicting classifications of pathogenicity

Condition: not provided
Glycogen storage disease, type II
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA8815555

rs_770248553

3 SubmittersRCV000342373 RCV002059104 RCV005562324

NM_000152.5(GAA):c.2391C>T (p.Ala797=)

SNV
Germline

Chr17:80117659

Conflicting classifications of pathogenicity

Condition: not provided
Glycogen storage disease, type II
GAA-related disorder
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA8815724

rs_767494597

5 SubmittersRCV000276337 RCV001393526 RCV003982981 RCV003165725

NM_000152.5(GAA):c.705G>A (p.Thr235=)

SNV
Germline

Chr17:80107569

Conflicting classifications of pathogenicity

Glycogen storage disease, type II
Condition: not provided
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA8814998

rs_2304846

10 SubmittersRCV000263169 RCV000396482 RCV002365303 RCV002509344

NM_000152.5(GAA):c.2122C>T (p.His708Tyr)

SNV
Germline

Chr17:80113299

Conflicting classifications of pathogenicity

Condition: not provided
Glycogen storage disease, type II
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA8815617

rs_149916476

5 SubmittersRCV000276602 RCV000799633 RCV005831575

NM_000152.5(GAA):c.2427C>G (p.Ala809=)

SNV
Germline

Chr17:80117695

Conflicting classifications of pathogenicity

Condition: not provided
Glycogen storage disease, type II

Criteria Provided
Conflicting Classifications

CA8815738

rs_766325117

3 SubmittersRCV000329722 RCV001460062

NM_000152.5(GAA):c.1124G>T (p.Arg375Leu)

SNV
Germline

Chr17:80108537

Pathogenic

Glycogen storage disease, type II
Condition: not provided

Reviewed By Expert Panel

CA8815178

rs_142752477

10 SubmittersRCV000306541 RCV000725236

NM_000152.5(GAA):c.1195-4G>T

SNV
Germline

Chr17:80108693

Conflicting classifications of pathogenicity

Condition: not provided
Glycogen storage disease, type II

Criteria Provided
Conflicting Classifications

CA10604494

rs_886042626

2 SubmittersRCV000385088 RCV003609152

NM_000152.5(GAA):c.841C>T (p.Arg281Trp)

SNV
Germline

Chr17:80107705

Likely pathogenic

Condition: not provided
Glycogen storage disease, type II
GAA-related disorder
Cardiovascular phenotype

Reviewed By Expert Panel

CA8815025

rs_142967546

19 SubmittersRCV000319725 RCV000535428 RCV004751427 RCV005562327

NM_000152.5(GAA):c.1064T>C (p.Leu355Pro)

SNV
Germline

Chr17:80108398

Pathogenic

Glycogen storage disease, type II
Condition: not provided

Reviewed By Expert Panel

CA8815136

rs_766074609

13 SubmittersRCV000353485 RCV000725389

NM_000152.5(GAA):c.1536C>T (p.Phe512=)

SNV
Germline

Chr17:80110825

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Glycogen storage disease, type II
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA8815359

rs_143491365

7 SubmittersRCV000264734 RCV000725394 RCV001085108 RCV005841540

NM_000152.5(GAA):c.1725C>T (p.Tyr575=)

SNV
Germline

Chr17:80112071

Conflicting classifications of pathogenicity

Condition: not provided
Glycogen storage disease, type II
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA8815440

rs_112517802

7 SubmittersRCV000283710 RCV001086784 RCV005562328

NM_000152.5(GAA):c.1265G>A (p.Arg422Gln)

SNV
Germline

Chr17:80108767

Conflicting classifications of pathogenicity

Condition: not provided
Glycogen storage disease, type II

Criteria Provided
Conflicting Classifications

CA8815245

rs_2229224

7 SubmittersRCV000349846 RCV001080632

NM_000152.5(GAA):c.1848C>T (p.Asp616=)

SNV
Germline

Chr17:80112671

Conflicting classifications of pathogenicity

Condition: not provided
Glycogen storage disease, type II
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA8815498

rs_377175810

7 SubmittersRCV000402428 RCV001088257 RCV003165735

NM_000152.5(GAA):c.2647-6G>A

SNV
Germline

Chr17:80118647

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10604795

rs_201525743

4 SubmittersRCV000390653 RCV000725455 RCV001418402

NM_000152.5(GAA):c.1143C>T (p.Thr381=)

SNV
Germline

Chr17:80108556

Conflicting classifications of pathogenicity

Condition: not provided
Glycogen storage disease, type II
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA8815182

rs_111832449

6 SubmittersRCV000279653 RCV001087108 RCV002450810

NM_000152.5(GAA):c.362A>G (p.Gln121Arg)

SNV
Germline

Chr17:80104948

Conflicting classifications of pathogenicity

Condition: not provided
Glycogen storage disease, type II
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA8814857

rs_150284874

8 SubmittersRCV000403362 RCV000815535 RCV000852726

NM_000152.5(GAA):c.1851G>A (p.Val617=)

SNV
Germline

Chr17:80112674

Conflicting classifications of pathogenicity

Condition: not provided
Glycogen storage disease, type II

Criteria Provided
Conflicting Classifications

CA10604843

rs_886042906

3 SubmittersRCV000363158 RCV001425010

NM_000152.5(GAA):c.861C>T (p.Pro287=)

SNV
Germline

Chr17:80107802

Conflicting classifications of pathogenicity

Condition: not provided
Glycogen storage disease, type II
not specified
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA8815072

rs_778580823

9 SubmittersRCV000274967 RCV001080117 RCV001192851 RCV002446521

NM_000152.5(GAA):c.1000G>T (p.Gly334Cys)

SNV
Germline

Chr17:80108334

Likely pathogenic

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

Reviewed By Expert Panel

CA10604927

rs_886042960

3 SubmittersRCV000285793 RCV003479092 RCV005645065

NM_000152.5(GAA):c.1447G>A (p.Gly483Arg)

SNV
Germline

Chr17:80110736

Pathogenic

Condition: not provided
Glycogen storage disease, type II

Reviewed By Expert Panel

CA8815349

rs_770590394

10 SubmittersRCV000278497 RCV000664619

NM_000152.5(GAA):c.2656G>A (p.Val886Met)

SNV
Germline

Chr17:80118662

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Glycogen storage disease, type II

Criteria Provided
Conflicting Classifications

CA8815828

rs_372802420

4 SubmittersRCV000310236 RCV002429224 RCV002519172

NM_000152.5(GAA):c.2297A>G (p.Tyr766Cys)

SNV
Germline

Chr17:80117075

Pathogenic

Condition: not provided
Glycogen storage disease, type II

Reviewed By Expert Panel

CA8815679

rs_144016984

13 SubmittersRCV000403113 RCV001049848

NM_000152.5(GAA):c.1410C>T (p.Asn470=)

SNV
Germline

Chr17:80110028

Conflicting classifications of pathogenicity

Condition: not provided
Glycogen storage disease, type II
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA8815310

rs_886043068

6 SubmittersRCV000403878 RCV001089130 RCV002392802

NM_000152.5(GAA):c.866C>T (p.Ala289Val)

SNV
Germline

Chr17:80107807

Conflicting classifications of pathogenicity

Condition: not provided
Glycogen storage disease, type II
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA8815076

rs_145903608

6 SubmittersRCV000324645 RCV000541633 RCV005572293

NM_000152.5(GAA):c.444C>T (p.Tyr148=)

SNV
Germline

Chr17:80105030

Conflicting classifications of pathogenicity

Condition: not provided
Glycogen storage disease, type II
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10605123

rs_886043112

4 SubmittersRCV000353451 RCV001445404 RCV004992157

NM_000152.5(GAA):c.1402A>T (p.Ile468Phe)

SNV
Germline

Chr17:80110020

Likely pathogenic

Condition: not provided
Glycogen storage disease, type II

Reviewed By Expert Panel

CA10605170

rs_886043148

11 SubmittersRCV000386415 RCV000673833

NM_000152.5(GAA):c.2418G>A (p.Thr806=)

SNV
Germline

Chr17:80117686

Conflicting classifications of pathogenicity

Condition: not provided
Glycogen storage disease, type II
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA8815735

rs_371528938

5 SubmittersRCV000371750 RCV001088707 RCV004021184

NM_000152.5(GAA):c.2051C>T (p.Pro684Leu)

SNV
Germline

Chr17:80113228

Conflicting classifications of pathogenicity

Glycogen storage disease, type II
Condition: not provided
GAA-related disorder

Criteria Provided
Conflicting Classifications

CA8815599

rs_147327209

15 SubmittersRCV000264524 RCV000364773 RCV003391044

NM_000152.5(GAA):c.1434G>A (p.Gly478=)

SNV
Germline

Chr17:80110052

Conflicting classifications of pathogenicity

Condition: not provided
Glycogen storage disease, type II
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10605336

rs_886043285

4 SubmittersRCV000303014 RCV001419469 RCV003298341

NM_000152.5(GAA):c.1482A>G (p.Thr494=)

SNV
Germline

Chr17:80110771

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Glycogen storage disease, type II
Cardiovascular phenotype
GAA-related disorder

Criteria Provided
Conflicting Classifications

CA8815353

rs_202064115

9 SubmittersRCV000389259 RCV000725799 RCV001087762 RCV002392803 RCV003967751

NM_000152.5(GAA):c.2561G>A (p.Arg854Gln)

SNV
Germline

Chr17:80118272

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Glycogen storage disease, type II
GAA-related disorder
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA8815788

rs_149968110

11 SubmittersRCV000275982 RCV000586838 RCV001085439 RCV003967753 RCV005831578

NM_000152.5(GAA):c.2799+4A>G

SNV
Germline

Chr17:80118809

Likely pathogenic

Condition: not provided
Glycogen storage disease, type II

Reviewed By Expert Panel

CA8815855

rs_778032599

9 SubmittersRCV000382015 RCV000674123

NM_000152.5(GAA):c.1356C>T (p.Ala452=)

SNV
Germline

Chr17:80109974

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Glycogen storage disease, type II

Criteria Provided
Conflicting Classifications

CA8815296

rs_757893858

11 SubmittersRCV000725823 RCV002379136 RCV001001227

NM_000152.5(GAA):c.2332-10C>G

SNV
Germline

Chr17:80117590

Conflicting classifications of pathogenicity

Condition: not provided
Glycogen storage disease, type II

Criteria Provided
Conflicting Classifications

CA8815712

rs_373606162

6 SubmittersRCV000325242 RCV001084656

NM_000152.5(GAA):c.2155G>T (p.Ala719Ser)

SNV
Germline

Chr17:80113332

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA8815628

rs_143324027

9 SubmittersRCV000631086 RCV000675240 RCV001375522

NM_000152.5(GAA):c.1754+1G>A

SNV
Germline

Chr17:80112101

Pathogenic

Condition: not provided
Glycogen storage disease, type II

Reviewed By Expert Panel

CA10605471

rs_886043399

7 SubmittersRCV000300474 RCV001200862

NM_000152.5(GAA):c.1841C>T (p.Thr614Met)

SNV
Germline

Chr17:80112664

Likely pathogenic

Condition: not provided
Glycogen storage disease, type II
Rare genetic deafness

Reviewed By Expert Panel

CA8815496

rs_369531647

14 SubmittersRCV000295145 RCV000702676 RCV004017586

NM_000152.5(GAA):c.317G>A (p.Arg106His)

SNV
Germline

Chr17:80104903

Conflicting classifications of pathogenicity

Condition: not provided
Glycogen storage disease, type II
GAA-related disorder

Criteria Provided
Conflicting Classifications

CA8814849

rs_772534106

9 SubmittersRCV000380809 RCV000631065 RCV004751434

NM_000152.5(GAA):c.1192C>T (p.Leu398=)

SNV
Germline

Chr17:80108605

Conflicting classifications of pathogenicity

Condition: not provided
Glycogen storage disease, type II
Hepatocellular carcinoma
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA8815199

rs_369707231

5 SubmittersRCV000404831 RCV001081335 RCV005895742 RCV006342209

NM_000152.5(GAA):c.1053G>T (p.Val351=)

SNV
Germline

Chr17:80108387

Conflicting classifications of pathogenicity

Condition: not provided
Glycogen storage disease, type II

Criteria Provided
Conflicting Classifications

CA8815134

rs_773063199

3 SubmittersRCV000289985 RCV001494056

NM_000152.5(GAA):c.534C>G (p.Arg178=)

SNV
Germline

Chr17:80105120

Conflicting classifications of pathogenicity

Condition: not provided
Glycogen storage disease, type II

Criteria Provided
Conflicting Classifications

CA8814890

rs_765613378

2 SubmittersRCV000380961 RCV002059207

NM_000152.5(GAA):c.2064C>T (p.Ser688=)

SNV
Germline

Chr17:80113241

Conflicting classifications of pathogenicity

not specified
Glycogen storage disease, type II
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8815602

rs_140996643

8 SubmittersRCV000287563 RCV000322043 RCV003372681 RCV000726098

NM_000152.5(GAA):c.2712G>A (p.Val904=)

SNV
Germline

Chr17:80118718

Conflicting classifications of pathogenicity

Condition: not provided
Glycogen storage disease, type II

Criteria Provided
Conflicting Classifications

CA10606025

rs_886043848

3 SubmittersRCV000316137 RCV001494951

NM_000152.5(GAA):c.692+9T>C

SNV
Germline

Chr17:80105903

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA8814967

rs_367661167

5 SubmittersRCV000379348 RCV000726158 RCV001082113

NM_000152.5(GAA):c.913G>A (p.Gly305Arg)

SNV
Germline

Chr17:80107854

Conflicting classifications of pathogenicity

Condition: not provided
Cardiomyopathy
Glycogen storage disease, type II
Thyroid cancer, nonmedullary, 1

Criteria Provided
Conflicting Classifications

CA8815087

rs_200154987

9 SubmittersRCV000360148 RCV000852729 RCV000806320 RCV005895838

NM_000152.5(GAA):c.702G>A (p.Thr234=)

SNV
Germline

Chr17:80107566

Conflicting classifications of pathogenicity

Condition: not provided
Glycogen storage disease, type II
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA8814995

rs_755337511

4 SubmittersRCV000398386 RCV001447054 RCV002374477

NM_000152.5(GAA):c.1347G>A (p.Ser449=)

SNV
Germline

Chr17:80109965

Conflicting classifications of pathogenicity

Condition: not provided
Glycogen storage disease, type II
Cardiovascular phenotype
GAA-related disorder

Criteria Provided
Conflicting Classifications

CA8815293

rs_756938942

7 SubmittersRCV000371494 RCV001499212 RCV002379146 RCV003897636

NM_000152.5(GAA):c.1781G>C (p.Arg594Pro)

SNV
Germline

Chr17:80112604

Likely pathogenic

Condition: not provided
Glycogen storage disease, type II

Reviewed By Expert Panel

CA8815476

rs_775450536

7 SubmittersRCV000375289 RCV001248974

NM_000152.5(GAA):c.1082C>G (p.Pro361Arg)

SNV
Germline

Chr17:80108495

Likely pathogenic

Condition: not provided
Glycogen storage disease, type II
Glycogen storage disease due to acid maltase deficiency, late-onset

Reviewed By Expert Panel

CA10606426

rs_755253527

4 SubmittersRCV000382384 RCV001078141 RCV006262346

NM_000152.5(GAA):c.2652G>A (p.Thr884=)

SNV
Germline

Chr17:80118658

Conflicting classifications of pathogenicity

Condition: not provided
Glycogen storage disease, type II
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA8815826

rs_143642048

11 SubmittersRCV000726336 RCV001085559 RCV002429231

NM_000152.5(GAA):c.1842G>A (p.Thr614=)

SNV
Germline

Chr17:80112665

Conflicting classifications of pathogenicity

Glycogen storage disease, type II
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA8815497

rs_373955374

7 SubmittersRCV000631085 RCV000726353 RCV002411175

NM_000152.5(GAA):c.993G>A (p.Arg331=)

SNV
Germline

Chr17:80108327

Conflicting classifications of pathogenicity

Condition: not provided
Glycogen storage disease, type II

Criteria Provided
Conflicting Classifications

CA8815124

rs_749831587

4 SubmittersRCV000285090 RCV001456955

NM_000152.5(GAA):c.1560C>T (p.Asn520=)

SNV
Germline

Chr17:80110949

Conflicting classifications of pathogenicity

Condition: not provided
Glycogen storage disease, type II
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA8815385

rs_116322271

6 SubmittersRCV000365610 RCV001088988 RCV005338130

NM_000152.5(GAA):c.1823G>A (p.Arg608Gln)

SNV
Germline

Chr17:80112646

Conflicting classifications of pathogenicity

Condition: not provided
Glycogen storage disease, type II

Criteria Provided
Conflicting Classifications

CA8815489

rs_377126280

7 SubmittersRCV000277163 RCV000554270

NM_000152.5(GAA):c.249C>T (p.Asp83=)

SNV
Germline

Chr17:80104835

Conflicting classifications of pathogenicity

Condition: not provided
Glycogen storage disease, type II
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA8814824

rs_377351519

5 SubmittersRCV000364811 RCV001078799 RCV005338132 RCV006456952

NM_000152.5(GAA):c.468C>T (p.Thr156=)

SNV
Germline

Chr17:80105054

Conflicting classifications of pathogenicity

Condition: not provided
Glycogen storage disease, type II
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10606807

rs_145849611

3 SubmittersRCV000283468 RCV002059294 RCV005841547

NM_000152.5(GAA):c.952A>T (p.Met318Leu)

SNV
Germline

Chr17:80107893

Conflicting classifications of pathogenicity

Condition: not provided
Glycogen storage disease, type II

Criteria Provided
Conflicting Classifications

CA10606846

rs_886044506

3 SubmittersRCV000366470 RCV001379526

NM_000152.5(GAA):c.2253C>T (p.Leu751=)

SNV
Germline

Chr17:80117031

Conflicting classifications of pathogenicity

Condition: not provided
Glycogen storage disease, type II
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA8815669

rs_140441758

6 SubmittersRCV000403504 RCV001080332 RCV002446535

NM_000152.5(GAA):c.1075+9T>C

SNV
Germline

Chr17:80108418

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA8815140

rs_751918816

5 SubmittersRCV000285215 RCV000726676 RCV001087978

NM_000152.5(GAA):c.2109C>T (p.Tyr703=)

SNV
Germline

Chr17:80113286

Conflicting classifications of pathogenicity

Glycogen storage disease, type II
Condition: not provided
Cardiovascular phenotype
GAA-related disorder

Criteria Provided
Conflicting Classifications

CA8815611

rs_150728610

8 SubmittersRCV001082960 RCV000726677 RCV002418138 RCV003949961

NM_000152.5(GAA):c.197G>A (p.Arg66Gln)

SNV
Germline

Chr17:80104783

Conflicting classifications of pathogenicity

Glycogen storage disease, type II
Cardiomyopathy
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA8814804

rs_200202628

9 SubmittersRCV000342526 RCV000852725 RCV003129832 RCV005831591

NM_000152.5(GAA):c.503G>A (p.Arg168Gln)

SNV
Germline

Chr17:80105089

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA8814884

rs_376685205

9 SubmittersRCV000309076 RCV000786313 RCV002469130

NM_000152.5(GAA):c.761C>T (p.Ser254Leu)

SNV
Germline

Chr17:80107625

Conflicting classifications of pathogenicity

Glycogen storage disease, type II
Condition: not provided
not specified
GAA-related disorder

Criteria Provided
Conflicting Classifications

CA8815009

rs_577915581

12 SubmittersRCV000285433 RCV000498412 RCV002265734 RCV004751466

NM_000152.5(GAA):c.955+14C>A

SNV
Germline

Chr17:80107910

Conflicting classifications of pathogenicity

Glycogen storage disease, type II
not specified

Criteria Provided
Conflicting Classifications

CA8815099

rs_756921041

4 SubmittersRCV000346137 RCV000604164

NM_000152.5(GAA):c.2800-11C>G

SNV
Germline

Chr17:80119261

Conflicting classifications of pathogenicity

Glycogen storage disease, type II
not specified

Criteria Provided
Conflicting Classifications

CA8815881

rs_374571499

6 SubmittersRCV000365905 RCV000422518

NM_000152.5(GAA):c.-312C>T

SNV
Germline

Chr17:80101611

Conflicting classifications of pathogenicity

Glycogen storage disease, type II
not specified
GAA-related disorder

Criteria Provided
Conflicting Classifications

CA10647035

rs_574326920

4 SubmittersRCV000326975 RCV000428679 RCV003897740

NM_000152.5(GAA):c.531C>T (p.Asn177=)

SNV
Germline

Chr17:80105117

Conflicting classifications of pathogenicity

Glycogen storage disease, type II

Criteria Provided
Conflicting Classifications

CA10647050

rs_886053544

2 SubmittersRCV000314949

NM_000152.5(GAA):c.1075+12T>G

SNV
Germline

Chr17:80108421

Conflicting classifications of pathogenicity

Glycogen storage disease, type II
not specified

Criteria Provided
Conflicting Classifications

CA8815141

rs_370842677

4 SubmittersRCV000396659 RCV000599681

NM_000152.5(GAA):c.2319C>T (p.Tyr773=)

SNV
Germline

Chr17:80117097

Conflicting classifications of pathogenicity

Glycogen storage disease, type II
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA8815685

rs_377402848

7 SubmittersRCV000385517 RCV001706520 RCV002446586

NM_000152.5(GAA):c.2800-9C>G

SNV
Germline

Chr17:80119263

Conflicting classifications of pathogenicity

Glycogen storage disease, type II

Criteria Provided
Conflicting Classifications

CA10647066

rs_886053547

3 SubmittersRCV000269141

NM_000152.5(GAA):c.257C>G (p.Pro86Arg)

SNV
Germline

Chr17:80104843

Conflicting classifications of pathogenicity

Glycogen storage disease, type II
not specified
Condition: not provided
GAA-related disorder
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA8814828

rs_2229222

12 SubmittersRCV000399666 RCV000595797 RCV001508997 RCV003912356 RCV006342232

NM_000152.5(GAA):c.752C>T (p.Ser251Leu)

SNV
Germline

Chr17:80107616

Conflicting classifications of pathogenicity

Glycogen storage disease, type II
Condition: not provided
not specified
GAA-related disorder

Criteria Provided
Conflicting Classifications

CA8815007

rs_200856561

14 SubmittersRCV000372885 RCV000497864 RCV002265733 RCV004751465

NM_000152.5(GAA):c.2151C>T (p.His717=)

SNV
Germline

Chr17:80113328

Conflicting classifications of pathogenicity

Glycogen storage disease, type II
GAA-related disorder
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA8815625

rs_758725073

6 SubmittersRCV000325883 RCV003957666 RCV005338144

NM_000152.5(GAA):c.858+10C>T

SNV
Germline

Chr17:80107732

Conflicting classifications of pathogenicity

Glycogen storage disease, type II
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8815044

rs_758283022

6 SubmittersRCV000324021 RCV000592339

NM_000152.5(GAA):c.-32-3C>A

SNV
Germline

Chr17:80104552

Pathogenic

Glycogen storage disease, type II

Reviewed By Expert Panel

CA16041878

rs_1055945806

5 SubmittersRCV000412452

NM_000152.5(GAA):c.169C>T (p.Gln57Ter)

SNV
Germline

Chr17:80104755

Pathogenic

Glycogen storage disease, type II
Condition: not provided

Reviewed By Expert Panel

CA16041879

rs_1057516251

6 SubmittersRCV000412122 RCV003488580

NM_000152.5(GAA):c.546G>T (p.Thr182=)

SNV
Germline

Chr17:80105132

Pathogenic

Glycogen storage disease, type II
Condition: not provided

Reviewed By Expert Panel

CA16041884

rs_143523371

5 SubmittersRCV000410156 RCV001782869

NM_000152.5(GAA):c.573C>A (p.Tyr191Ter)

SNV
Germline

Chr17:80105775

Pathogenic

Glycogen storage disease, type II
Condition: not provided

Reviewed By Expert Panel

CA16041885

rs_376229714

8 SubmittersRCV000410905 RCV001782865

NM_000152.5(GAA):c.875A>G (p.Tyr292Cys)

SNV
Germline

Chr17:80107816

Pathogenic

Glycogen storage disease, type II
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA16041886

rs_1057516600

14 SubmittersRCV000410689 RCV000730212

NM_000152.5(GAA):c.1076-22T>G

SNV
Germline

Chr17:80108467

Pathogenic

Glycogen storage disease, type II
Condition: not provided

Reviewed By Expert Panel

CA8815157

rs_762260678

8 SubmittersRCV000409600 RCV001570177

NM_000152.5(GAA):c.1076-2A>G

SNV
Germline

Chr17:80108487

Pathogenic

Glycogen storage disease, type II
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA16041887

rs_1057516290

3 SubmittersRCV000409982 RCV003137981

NM_000152.5(GAA):c.1115A>T (p.His372Leu)

SNV
Germline

Chr17:80108528

Pathogenic

Glycogen storage disease, type II
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA16041889

rs_1057516520

7 SubmittersRCV000411518 RCV001702363

NM_000152.5(GAA):c.1194+2T>C

SNV
Unknown

Chr17:80108609

Likely pathogenic

Glycogen storage disease, type II

No Assertion Criteria Provided

CA16041892

rs_1057516215

1 SubmittersRCV000409997

NM_000152.5(GAA):c.1222A>G (p.Met408Val)

SNV
Germline

Chr17:80108724

Likely pathogenic

Glycogen storage disease, type II
Condition: not provided

Reviewed By Expert Panel

CA8815236

rs_560575383

7 SubmittersRCV000410896 RCV004822041

NM_000152.5(GAA):c.1316T>A (p.Met439Lys)

SNV
Germline

Chr17:80108818

Pathogenic

Glycogen storage disease, type II
Glycogen storage disease
Condition: not provided

Reviewed By Expert Panel

CA8815258

rs_747610090

10 SubmittersRCV000410956 RCV000612594 RCV001782875

NM_000152.5(GAA):c.1564C>G (p.Pro522Ala)

SNV
Germline

Chr17:80110953

Pathogenic

Glycogen storage disease, type II
Condition: not provided

Reviewed By Expert Panel

CA16041893

rs_892129065

10 SubmittersRCV000410150 RCV000733496

NM_000152.5(GAA):c.1687C>T (p.Gln563Ter)

SNV
Germline

Chr17:80112033

Pathogenic

Glycogen storage disease, type II

Reviewed By Expert Panel

CA16041895

rs_1057516426

3 SubmittersRCV000411330

NM_000152.5(GAA):c.1799G>A (p.Arg600His)

SNV
Germline

Chr17:80112622

Pathogenic

Glycogen storage disease, type II
Condition: not provided

Reviewed By Expert Panel

CA8815482

rs_377544304

15 SubmittersRCV000408964 RCV000521900

NM_000152.5(GAA):c.1832G>A (p.Gly611Asp)

SNV
Germline

Chr17:80112655

Likely pathogenic

Glycogen storage disease, type II

Reviewed By Expert Panel

CA16041897

rs_1057517105

5 SubmittersRCV000409030

NM_000152.5(GAA):c.1856G>A (p.Ser619Asn)

SNV
Germline

Chr17:80112679

Pathogenic

Glycogen storage disease, type II
Condition: not provided
Abnormality of metabolism/homeostasis

Reviewed By Expert Panel

CA8815500

rs_753269119

13 SubmittersRCV000409055 RCV001726152 RCV001814152

NM_000152.5(GAA):c.2015G>A (p.Arg672Gln)

SNV
Germline

Chr17:80113002

Likely pathogenic

Glycogen storage disease, type II
Condition: not provided

Reviewed By Expert Panel

CA8815566

rs_778418246

10 SubmittersRCV000410731 RCV003137986

NM_000152.5(GAA):c.2040+1G>T

SNV
Germline

Chr17:80113028

Pathogenic

Glycogen storage disease, type II
Condition: not provided
Gastric cancer

Reviewed By Expert Panel

CA16041898

rs_1057516928

9 SubmittersRCV000410649 RCV003137985 RCV005900636

NM_000152.5(GAA):c.2213G>A (p.Trp738Ter)

SNV
Germline

Chr17:80116991

Pathogenic

Glycogen storage disease, type II
Condition: not provided

Reviewed By Expert Panel

CA16041900

rs_1057516327

6 SubmittersRCV000411759 RCV003137982

NM_000152.5(GAA):c.2214G>A (p.Trp738Ter)

SNV
Germline

Chr17:80116992

Pathogenic

Glycogen storage disease, type II

Reviewed By Expert Panel

CA16041901

rs_1057516328

5 SubmittersRCV000409827

NM_000152.5(GAA):c.2227C>T (p.Gln743Ter)

SNV
Germline

Chr17:80117005

Pathogenic

Glycogen storage disease, type II

Criteria Provided
Multiple Submitters
No Conflicts

CA16041902

rs_1057516277

5 SubmittersRCV000410278

NM_000152.5(GAA):c.2238G>A (p.Trp746Ter)

SNV
Germline

Chr17:80117016

Pathogenic

Glycogen storage disease, type II
Condition: not provided

Reviewed By Expert Panel

CA8815666

rs_1800312

11 SubmittersRCV000410158 RCV000723386

NM_000152.5(GAA):c.2242G>T (p.Glu748Ter)

SNV
Germline

Chr17:80117020

Pathogenic

Glycogen storage disease, type II

Reviewed By Expert Panel

CA16041903

rs_1057516363

3 SubmittersRCV000411214

NM_000152.5(GAA):c.2331+2T>A

SNV
Germline

Chr17:80117111

Pathogenic

Glycogen storage disease, type II
Condition: not provided

Reviewed By Expert Panel

CA16041906

rs_1057517148

8 SubmittersRCV000411608 RCV001702635

NM_000152.5(GAA):c.2704C>T (p.Gln902Ter)

SNV
Germline

Chr17:80118710

Likely pathogenic

Glycogen storage disease, type II

Reviewed By Expert Panel

CA16041908

rs_1057516341

3 SubmittersRCV000411086

NM_000152.5(GAA):c.1961C>A (p.Ser654Ter)

SNV
Germline

Chr17:80112948

Likely pathogenic

Condition: not provided
Glycogen storage disease, type II

Reviewed By Expert Panel

CA16043014

rs_1057518106

2 SubmittersRCV000414717 RCV001200860

NM_000152.5(GAA):c.2052G>A (p.Pro684=)

SNV
Germline

Chr17:80113229

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Glycogen storage disease, type II
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA8815600

rs_546463058

9 SubmittersRCV000420693 RCV000726737 RCV001085036 RCV002418303

NM_000152.5(GAA):c.2132C>G (p.Thr711Arg)

SNV
Germline

Chr17:80113309

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA8815620

rs_759292700

6 SubmittersRCV000428746 RCV000728005 RCV001584119

NM_000152.5(GAA):c.834G>A (p.Leu278=)

SNV
Germline

Chr17:80107698

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Glycogen storage disease, type II
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA8815023

rs_776314424

5 SubmittersRCV000443970 RCV000730476 RCV001414164 RCV002436331

NM_000152.5(GAA):c.2736G>A (p.Ala912=)

SNV
Germline

Chr17:80118742

Conflicting classifications of pathogenicity

Condition: not provided
Glycogen storage disease, type II
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA8815842

rs_142472738

8 SubmittersRCV000726791 RCV001088082 RCV002436291

NM_000152.5(GAA):c.2445C>T (p.Asn815=)

SNV
Germline

Chr17:80117713

Conflicting classifications of pathogenicity

Glycogen storage disease, type II
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA8815744

rs_755846997

4 SubmittersRCV000934357 RCV001721436 RCV005562357

NM_000152.5(GAA):c.-116C>T

SNV
Germline

Chr17:80101807

Conflicting classifications of pathogenicity

Condition: not provided
Glycogen storage disease, type II

Criteria Provided
Conflicting Classifications

CA16608674

rs_190152638

2 SubmittersRCV001703848 RCV001796971

NM_000152.5(GAA):c.1478C>T (p.Pro493Leu)

SNV
Germline

Chr17:80110767

Likely pathogenic

Condition: not provided
Glycogen storage disease, type II

Reviewed By Expert Panel

CA16608675

rs_148842275

9 SubmittersRCV000443985 RCV000666526

NM_000152.5(GAA):c.1082C>T (p.Pro361Leu)

SNV
Germline

Chr17:80108495

Pathogenic

Glycogen storage disease, type II
Condition: not provided

Reviewed By Expert Panel

CA8815163

rs_755253527

11 SubmittersRCV000464818 RCV001782927

NM_000152.5(GAA):c.1062C>A (p.Tyr354Ter)

SNV
Germline

Chr17:80108396

Pathogenic

Condition: not provided
Glycogen storage disease, type II

Reviewed By Expert Panel

CA16620645

rs_1064796703

5 SubmittersRCV000479891 RCV001265224

NM_000152.5(GAA):c.1075G>T (p.Gly359Ter)

SNV
Germline

Chr17:80108409

Pathogenic

Condition: not provided
Glycogen storage disease, type II

Reviewed By Expert Panel

CA16620646

rs_1064794288

3 SubmittersRCV000483867 RCV001231709

NM_000152.5(GAA):c.1552-3C>G

SNV
Germline

Chr17:80110938

Likely pathogenic

Condition: not provided
Glycogen storage disease, type II
Cardiovascular phenotype
Colon adenocarcinoma
Gastric cancer
Familial cancer of breast
Melanoma

Reviewed By Expert Panel

CA8815383

rs_375470378

19 SubmittersRCV000479616 RCV000593914 RCV003380590 RCV005899648 RCV005899649 RCV005899647 RCV005899650

NM_000152.5(GAA):c.2297A>C (p.Tyr766Ser)

SNV
Germline

Chr17:80117075

Pathogenic

Condition: not provided
Glycogen storage disease, type II

Reviewed By Expert Panel

CA8815680

rs_144016984

9 SubmittersRCV000486923 RCV001065031

NM_000152.5(GAA):c.118C>T (p.Arg40Ter)

SNV
Germline

Chr17:80104704

Pathogenic

Condition: not provided
Glycogen storage disease, type II

Reviewed By Expert Panel

CA8814791

rs_767409395

11 SubmittersRCV000489843 RCV000589039

NM_000152.5(GAA):c.2105G>A (p.Arg702His)

SNV
Germline

Chr17:80113282

Pathogenic

Condition: not provided
Glycogen storage disease, type II
GAA-related disorder

Reviewed By Expert Panel

CA8815610

rs_398123172

14 SubmittersRCV000489782 RCV000541873 RCV003962356

NM_000152.5(GAA):c.2269C>T (p.Gln757Ter)

SNV
Germline

Chr17:80117047

Pathogenic

Condition: not provided
Glycogen storage disease, type II

Reviewed By Expert Panel

CA294856548

rs_200483245

10 SubmittersRCV000493446 RCV000664955

NM_000152.5(GAA):c.1564C>A (p.Pro522Thr)

SNV
Germline

Chr17:80110953

Pathogenic/Likely pathogenic

Condition: not provided
Glycogen storage disease, type II

Criteria Provided
Multiple Submitters
No Conflicts

CA401367208

rs_892129065

3 SubmittersRCV000519755 RCV001834682

NM_000152.5(GAA):c.2671C>T (p.Arg891Cys)

SNV
Germline

Chr17:80118677

Conflicting classifications of pathogenicity

Condition: not provided
Glycogen storage disease, type II

Criteria Provided
Conflicting Classifications

CA8815832

rs_377249041

3 SubmittersRCV000522173 RCV001034275

NM_000152.5(GAA):c.1438-9G>A

SNV
Germline

Chr17:80110718

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Glycogen storage disease, type II
GAA-related disorder

Criteria Provided
Conflicting Classifications

CA8815345

rs_202211401

8 SubmittersRCV000727404 RCV000594051 RCV001087242 RCV003942733

NM_000152.5(GAA):c.2154C>T (p.Val718=)

SNV
Germline

Chr17:80113331

Conflicting classifications of pathogenicity

Glycogen storage disease, type II

Criteria Provided
Conflicting Classifications

CA8815627

rs_1800311

3 SubmittersRCV000529944

NM_000152.5(GAA):c.2332-1G>C

SNV
Germline

Chr17:80117599

Likely pathogenic

Glycogen storage disease, type II
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA401324964

rs_1555602832

5 SubmittersRCV000527551 RCV004791520

NM_000152.5(GAA):c.663C>T (p.Ile221=)

SNV
Germline

Chr17:80105865

Conflicting classifications of pathogenicity

Condition: not provided
Glycogen storage disease, type II
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA8814956

rs_142878958

6 SubmittersRCV000598504 RCV001080342 RCV002367774

NM_000152.5(GAA):c.2456G>A (p.Arg819Gln)

SNV
Germline

Chr17:80117724

Conflicting classifications of pathogenicity

Glycogen storage disease, type II
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8815747

rs_374687883

4 SubmittersRCV000545406 RCV004791521

NM_000152.5(GAA):c.2609G>A (p.Arg870Gln)

SNV
Germline

Chr17:80118320

Conflicting classifications of pathogenicity

Glycogen storage disease, type II
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8815795

rs_747076541

2 SubmittersRCV000554449 RCV003139752

NM_000152.5(GAA):c.2740C>T (p.Gln914Ter)

SNV
Germline

Chr17:80118746

Likely pathogenic

Glycogen storage disease, type II

Reviewed By Expert Panel

CA401327117

rs_1555603264

3 SubmittersRCV000534401

NM_000152.5(GAA):c.277G>A (p.Ala93Thr)

SNV
Germline

Chr17:80104863

Conflicting classifications of pathogenicity

Glycogen storage disease, type II
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8814837

rs_142481170

4 SubmittersRCV000534070 RCV001548249

NM_000152.5(GAA):c.711G>A (p.Ala237=)

SNV
Germline

Chr17:80107575

Conflicting classifications of pathogenicity

Glycogen storage disease, type II
Condition: not provided
Cardiovascular phenotype
GAA-related disorder

Criteria Provided
Conflicting Classifications

CA8815000

rs_368328598

7 SubmittersRCV000530651 RCV000591487 RCV002367775 RCV003900115

NM_000152.5(GAA):c.1884G>C (p.Val628=)

SNV
Germline

Chr17:80112707

Conflicting classifications of pathogenicity

Condition: not provided
Glycogen storage disease, type II

Criteria Provided
Conflicting Classifications

CA8815508

rs_780130036

4 SubmittersRCV000596871 RCV001080321

NM_000152.5(GAA):c.2215A>T (p.Thr739Ser)

SNV
Germline

Chr17:80116993

Conflicting classifications of pathogenicity

Glycogen storage disease, type II
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA8815657

rs_578245757

3 SubmittersRCV000543367 RCV002431530

NM_000152.5(GAA):c.687C>T (p.Arg229=)

SNV
Germline

Chr17:80105889

Conflicting classifications of pathogenicity

Glycogen storage disease, type II
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA8814964

rs_149814041

7 SubmittersRCV000527930 RCV003144318 RCV004023752

NM_000152.5(GAA):c.922C>T (p.His308Tyr)

SNV
Germline

Chr17:80107863

Conflicting classifications of pathogenicity

Glycogen storage disease, type II
See cases
Condition: not provided
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA8815089

rs_112025212

10 SubmittersRCV000560890 RCV002252158 RCV001584243 RCV002377004 RCV005239144

NM_000152.5(GAA):c.1416C>T (p.Thr472=)

SNV
Germline

Chr17:80110034

Conflicting classifications of pathogenicity

Condition: not provided
Glycogen storage disease, type II

Criteria Provided
Conflicting Classifications

CA8815312

rs_368492669

7 SubmittersRCV000727406 RCV001087314

NM_000152.5(GAA):c.2041-4G>T

SNV
Germline

Chr17:80113214

Conflicting classifications of pathogenicity

Glycogen storage disease, type II
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8815595

rs_775757700

4 SubmittersRCV000528470 RCV000732711

NM_000152.5(GAA):c.2190-4G>A

SNV
Germline

Chr17:80116964

Conflicting classifications of pathogenicity

Condition: not provided
Glycogen storage disease, type II
GAA-related disorder
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA8815653

rs_759974338

9 SubmittersRCV000588046 RCV001083210 RCV003960261 RCV004023751 RCV005407690

NM_000152.5(GAA):c.2245G>T (p.Ala749Ser)

SNV
Germline

Chr17:80117023

Conflicting classifications of pathogenicity

Glycogen storage disease, type II
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8815668

rs_148311222

5 SubmittersRCV000543300 RCV003144317

NM_000152.5(GAA):c.2455C>T (p.Arg819Trp)

SNV
Germline

Chr17:80117723

Likely pathogenic

Glycogen storage disease, type II
Condition: not provided
Cardiovascular phenotype

Reviewed By Expert Panel

CA8815746

rs_61736895

9 SubmittersRCV000530517 RCV001770411 RCV002456047

NM_000152.5(GAA):c.2188G>T (p.Glu730Ter)

SNV
Germline

Chr17:80113365

Pathogenic

Glycogen storage disease, type II

Reviewed By Expert Panel

CA401370663

rs_1555601828

3 SubmittersRCV000586591

NM_000152.5(GAA):c.1735G>A (p.Glu579Lys)

SNV
Germline

Chr17:80112081

Pathogenic

Glycogen storage disease, type II
Condition: not provided

Reviewed By Expert Panel

CA294895841

rs_991082382

10 SubmittersRCV000586125 RCV001783090

NM_000152.5(GAA):c.858+2T>A

SNV
Germline

Chr17:80107724

Likely pathogenic

Glycogen storage disease, type II

Criteria Provided
Single Submitter

CA401363732

rs_1555599713

1 SubmittersRCV000586360

NM_000152.5(GAA):c.1129G>C (p.Gly377Arg)

SNV
Germline

Chr17:80108542

Pathogenic/Likely pathogenic

Condition: not provided
Glycogen storage disease, type II

Criteria Provided
Multiple Submitters
No Conflicts

CA8815180

rs_752002666

2 SubmittersRCV000592368 RCV001249091

NM_000152.5(GAA):c.546+8G>A

SNV
Germline

Chr17:80105140

Conflicting classifications of pathogenicity

Condition: not provided
Glycogen storage disease, type II

Criteria Provided
Conflicting Classifications

CA294887513

rs_200107080

4 SubmittersRCV000595321 RCV001089284

NM_000152.5(GAA):c.1375G>C (p.Asp459His)

SNV
Germline

Chr17:80109993

Conflicting classifications of pathogenicity

Condition: not provided
Glycogen storage disease, type II

Criteria Provided
Conflicting Classifications

CA294893978

rs_535644999

5 SubmittersRCV000597199 RCV000698293

NM_000152.5(GAA):c.460C>T (p.Arg154Cys)

SNV
Germline

Chr17:80105046

Conflicting classifications of pathogenicity

Condition: not provided
Glycogen storage disease, type II

Criteria Provided
Conflicting Classifications

CA8814876

rs_539841659

3 SubmittersRCV000596844 RCV002483587

NM_000152.5(GAA):c.297C>T (p.Thr99=)

SNV
Germline

Chr17:80104883

Conflicting classifications of pathogenicity

Condition: not provided
Glycogen storage disease, type II

Criteria Provided
Conflicting Classifications

CA8814842

rs_771846178

3 SubmittersRCV000597595 RCV001087805

NM_000152.5(GAA):c.794G>A (p.Ser265Asn)

SNV
Germline

Chr17:80107658

Conflicting classifications of pathogenicity

Condition: not provided
Glycogen storage disease, type II

Criteria Provided
Conflicting Classifications

CA8815019

rs_772002851

6 SubmittersRCV000594929 RCV000631094

NM_000152.5(GAA):c.2236T>C (p.Trp746Arg)

SNV
Germline

Chr17:80117014

Pathogenic/Likely pathogenic

Glycogen storage disease, type II
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA401324769

rs_1479740763

8 SubmittersRCV000598534 RCV000726989

NM_000152.5(GAA):c.1860C>T (p.Ser620=)

SNV
Germline

Chr17:80112683

Conflicting classifications of pathogenicity

Condition: not provided
Glycogen storage disease, type II
Cardiovascular phenotype
GAA-related disorder

Criteria Provided
Conflicting Classifications

CA8815501

rs_370369972

6 SubmittersRCV000596256 RCV001089227 RCV002413677 RCV003905535

NM_000152.5(GAA):c.906G>A (p.Glu302=)

SNV
Germline

Chr17:80107847

Conflicting classifications of pathogenicity

Condition: not provided
Glycogen storage disease, type II

Criteria Provided
Conflicting Classifications

CA502402758

rs_1488323868

3 SubmittersRCV000592177 RCV001084756

NM_000152.5(GAA):c.1802C>G (p.Ser601Trp)

SNV
Germline

Chr17:80112625

Likely pathogenic

Condition: not provided
Glycogen storage disease, type II

Reviewed By Expert Panel

CA294896338

rs_374470794

7 SubmittersRCV000597451 RCV001199859

NM_000152.5(GAA):c.1552-14C>T

SNV
Germline

Chr17:80110927

Conflicting classifications of pathogenicity

Glycogen storage disease, type II
Condition: not provided
GAA-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA8815381

rs_199715011

5 SubmittersRCV001123715 RCV001704699 RCV003935639 RCV003230552

NM_000152.5(GAA):c.119G>A (p.Arg40Gln)

SNV
Germline

Chr17:80104705

Conflicting classifications of pathogenicity

Glycogen storage disease, type II
Condition: not provided
Cardiovascular phenotype
Familial cancer of breast
not specified

Criteria Provided
Conflicting Classifications

CA8814792

rs_374476196

6 SubmittersRCV000631091 RCV002292572 RCV005831636 RCV005900118 RCV005431823

NM_000152.5(GAA):c.393C>G (p.Pro131=)

SNV
Germline

Chr17:80104979

Conflicting classifications of pathogenicity

Glycogen storage disease, type II
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8814863

rs_769276948

2 SubmittersRCV000631116 RCV005632539

NM_000152.5(GAA):c.1727G>A (p.Gly576Asp)

SNV
Germline

Chr17:80112073

Conflicting classifications of pathogenicity

Glycogen storage disease, type II

Criteria Provided
Conflicting Classifications

CA401369098

rs_1555601255

2 SubmittersRCV000631054

NM_000152.5(GAA):c.1876T>G (p.Ser626Ala)

SNV
Germline

Chr17:80112699

Conflicting classifications of pathogenicity

Glycogen storage disease, type II
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA401369746

rs_1235035841

5 SubmittersRCV000631069 RCV005562405 RCV005632537

NM_000152.5(GAA):c.692+5G>T

SNV
Germline

Chr17:80105899

Likely pathogenic

Glycogen storage disease, type II
Condition: not provided

Reviewed By Expert Panel

CA8814966

rs_763027848

5 SubmittersRCV000631076 RCV001784204

NM_000152.5(GAA):c.1438-2A>G

SNV
Germline

Chr17:80110725

Pathogenic

Glycogen storage disease, type II

Reviewed By Expert Panel

CA401366755

rs_1555600730

4 SubmittersRCV000631061

NM_000152.5(GAA):c.36C>T (p.Leu12=)

SNV
Germline

Chr17:80104622

Conflicting classifications of pathogenicity

Glycogen storage disease, type II
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA8814765

rs_200548806

4 SubmittersRCV000631115 RCV002358756

NM_000152.5(GAA):c.216C>T (p.Pro72=)

SNV
Germline

Chr17:80104802

Conflicting classifications of pathogenicity

Condition: not provided
Glycogen storage disease, type II

Criteria Provided
Conflicting Classifications

CA8814811

rs_753287841

3 SubmittersRCV000728964 RCV001089244

NM_000152.5(GAA):c.1743C>T (p.Ile581=)

SNV
Germline

Chr17:80112089

Conflicting classifications of pathogenicity

Glycogen storage disease, type II
Cardiovascular phenotype
GAA-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8815445

rs_527970795

5 SubmittersRCV000631101 RCV003302985 RCV003918005 RCV006448467

NM_000152.5(GAA):c.1245G>A (p.Thr415=)

SNV
Germline

Chr17:80108747

Conflicting classifications of pathogenicity

Glycogen storage disease, type II
Cardiovascular phenotype
GAA-related disorder

Criteria Provided
Conflicting Classifications

CA8815242

rs_760920034

5 SubmittersRCV000631114 RCV002388000 RCV004751641

NM_000152.5(GAA):c.2207G>A (p.Ser736Asn)

SNV
Germline

Chr17:80116985

Conflicting classifications of pathogenicity

Glycogen storage disease, type II
Cardiovascular phenotype
GAA-related disorder

Criteria Provided
Conflicting Classifications

CA8815656

rs_553430197

4 SubmittersRCV000631055 RCV002431856 RCV004751640

NM_000152.5(GAA):c.2003A>G (p.Tyr668Cys)

SNV
Germline

Chr17:80112990

Likely pathogenic

Condition: not provided
Glycogen storage disease, type II

Reviewed By Expert Panel

CA401370051

rs_1555601633

7 SubmittersRCV000658795 RCV001379709

NM_000152.5(GAA):c.241C>T (p.Gln81Ter)

SNV
Germline

Chr17:80104827

Pathogenic

Glycogen storage disease, type II
Condition: not provided

Reviewed By Expert Panel

CA401360518

rs_1555598687

4 SubmittersRCV000673492 RCV005632618

NM_000152.5(GAA):c.692+2T>C

SNV
Germline

Chr17:80105896

Pathogenic/Likely pathogenic

Glycogen storage disease, type II

Criteria Provided
Multiple Submitters
No Conflicts

CA401362651

rs_1555599171

3 SubmittersRCV000669406

NM_000152.5(GAA):c.533G>A (p.Arg178His)

SNV
Germline

Chr17:80105119

Conflicting classifications of pathogenicity

Glycogen storage disease, type II
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA8814889

rs_762267535

10 SubmittersRCV000670700 RCV003129985 RCV004026116

NM_000152.5(GAA):c.1076-1G>A

SNV
Germline

Chr17:80108488

Pathogenic/Likely pathogenic

Glycogen storage disease, type II
Melanoma
Glycogen storage disease due to acid maltase deficiency, late-onset

No Assertion Criteria Provided

CA401364877

rs_1555600050

3 SubmittersRCV000666182 RCV005901447 RCV006265183

NM_000152.5(GAA):c.989G>A (p.Trp330Ter)

SNV
Germline

Chr17:80108323

Pathogenic

Glycogen storage disease, type II
Condition: not provided

Reviewed By Expert Panel

CA401364487

rs_1555599960

5 SubmittersRCV000665079 RCV002289951

NM_000152.5(GAA):c.1496G>A (p.Trp499Ter)

SNV
Germline

Chr17:80110785

Pathogenic

Glycogen storage disease, type II

Reviewed By Expert Panel

CA8815357

rs_766680292

6 SubmittersRCV000673032

NM_000152.5(GAA):c.1195-1G>A

SNV
Germline

Chr17:80108696

Pathogenic

Glycogen storage disease, type II

Criteria Provided
Single Submitter

CA401365148

rs_1555600166

2 SubmittersRCV000664532

NM_000152.5(GAA):c.1437+1G>A

SNV
Germline

Chr17:80110056

Likely pathogenic

Glycogen storage disease, type II
Condition: not provided

Reviewed By Expert Panel

CA401366675

rs_1555600575

8 SubmittersRCV000671773 RCV001592852

NM_000152.5(GAA):c.1551+1G>T

SNV
Germline

Chr17:80110841

Pathogenic

Glycogen storage disease, type II

Reviewed By Expert Panel

CA8815365

rs_770780848

9 SubmittersRCV000671915

NM_000152.5(GAA):c.1933G>T (p.Asp645Tyr)

SNV
Germline

Chr17:80112920

Pathogenic

Glycogen storage disease, type II
GAA-related disorder
Condition: not provided

Reviewed By Expert Panel

CA401369905

rs_368438393

8 SubmittersRCV000672387 RCV003411583 RCV004719935

NM_000152.5(GAA):c.1710C>G (p.Asn570Lys)

SNV
Germline

Chr17:80112056

Likely pathogenic

Glycogen storage disease, type II
Condition: not provided

Reviewed By Expert Panel

CA401369044

rs_765362308

7 SubmittersRCV000670915 RCV001784266

NM_000152.5(GAA):c.2189+1G>T

SNV
Germline

Chr17:80113367

Likely pathogenic

Glycogen storage disease, type II
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA401370667

rs_1209887739

4 SubmittersRCV000674456 RCV003489797

NM_000152.5(GAA):c.1784C>T (p.Pro595Leu)

SNV
Germline

Chr17:80112607

Likely pathogenic

Glycogen storage disease, type II

Criteria Provided
Multiple Submitters
No Conflicts

CA8815478

rs_763772240

3 SubmittersRCV000665881

NM_000152.5(GAA):c.1941C>G (p.Cys647Trp)

SNV
Germline

Chr17:80112928

Pathogenic

Glycogen storage disease, type II
Condition: not provided

Reviewed By Expert Panel

CA8815554

rs_776948121

9 SubmittersRCV000665047 RCV001557095

NM_000152.5(GAA):c.2320G>A (p.Asp774Asn)

SNV
Germline

Chr17:80117098

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA8815686

rs_758390382

8 SubmittersRCV000671579 RCV001547359 RCV002265849

NM_000152.5(GAA):c.2647-7G>A

SNV
Germline

Chr17:80118646

Pathogenic/Likely pathogenic

Glycogen storage disease, type II
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA8815822

rs_192679574

9 SubmittersRCV000666077 RCV001816669

NM_000152.5(GAA):c.-32-1G>C

SNV
Germline

Chr17:80104554

Likely pathogenic

Glycogen storage disease, type II

Reviewed By Expert Panel

CA658824771

rs_1555598460

2 SubmittersRCV000673571

NM_000152.5(GAA):c.953T>A (p.Met318Lys)

SNV
Germline

Chr17:80107894

Likely pathogenic

Glycogen storage disease, type II

Reviewed By Expert Panel

CA401364275

rs_121907936

6 SubmittersRCV000675007

NM_000152.5(GAA):c.1216G>A (p.Asp406Asn)

SNV
Germline

Chr17:80108718

Likely pathogenic

Glycogen storage disease, type II

Reviewed By Expert Panel

CA401365200

rs_1555600179

4 SubmittersRCV000668100

NM_000152.5(GAA):c.1432G>A (p.Gly478Arg)

SNV
Germline

Chr17:80110050

Pathogenic

Glycogen storage disease, type II

Reviewed By Expert Panel

CA8815317

rs_778068209

7 SubmittersRCV000666316

NM_000152.5(GAA):c.1551+1G>C

SNV
Germline

Chr17:80110841

Pathogenic

Glycogen storage disease, type II
Condition: not provided

Reviewed By Expert Panel

CA401367167

rs_770780848

6 SubmittersRCV000670717 RCV001784264

NM_000152.5(GAA):c.1552-2A>G

SNV
Germline

Chr17:80110939

Pathogenic

Glycogen storage disease, type II

Criteria Provided
Single Submitter

CA401367171

rs_1555600846

2 SubmittersRCV000664623

NM_000152.5(GAA):c.1669A>T (p.Ile557Phe)

SNV
Germline

Chr17:80112015

Pathogenic

Glycogen storage disease, type II
Condition: not provided

Reviewed By Expert Panel

CA401368911

rs_747150965

7 SubmittersRCV000674934 RCV005632621

NM_000152.5(GAA):c.1796C>A (p.Ser599Tyr)

SNV
Germline

Chr17:80112619

Likely pathogenic

Glycogen storage disease, type II
Condition: not provided

Reviewed By Expert Panel

CA8815479

rs_753505203

8 SubmittersRCV000666648 RCV001784239

NM_000152.5(GAA):c.1857C>G (p.Ser619Arg)

SNV
Germline

Chr17:80112680

Pathogenic

Glycogen storage disease, type II

Reviewed By Expert Panel

CA401369658

rs_914396317

5 SubmittersRCV000665680

NM_000152.5(GAA):c.2407C>T (p.Gln803Ter)

SNV
Germline

Chr17:80117675

Pathogenic

Glycogen storage disease, type II
Condition: not provided

Reviewed By Expert Panel

CA401325116

rs_1344266804

5 SubmittersRCV000667612 RCV001784249

NM_000152.5(GAA):c.2647-20T>G

SNV
Germline

Chr17:80118633

Likely pathogenic

Glycogen storage disease, type II
Condition: not provided

Reviewed By Expert Panel

CA658795296

rs_1555603208

4 SubmittersRCV000671068 RCV001816675

NM_000152.5(GAA):c.352C>T (p.Gln118Ter)

SNV
Germline

Chr17:80104938

Pathogenic

Glycogen storage disease, type II

Reviewed By Expert Panel

CA401360858

rs_1555598800

2 SubmittersRCV000669430

NM_000152.5(GAA):c.796C>T (p.Pro266Ser)

SNV
Germline

Chr17:80107660

Likely pathogenic

Glycogen storage disease, type II
Condition: not provided

Reviewed By Expert Panel

CA401363495

rs_1555599667

6 SubmittersRCV000672072 RCV001549927

NM_000152.5(GAA):c.1099T>C (p.Trp367Arg)

SNV
Germline

Chr17:80108512

Likely pathogenic

Glycogen storage disease, type II
Condition: not provided

Reviewed By Expert Panel

CA401364951

rs_1555600061

7 SubmittersRCV000671718 RCV001785699

NM_000152.5(GAA):c.1280T>C (p.Met427Thr)

SNV
Germline

Chr17:80108782

Pathogenic/Likely pathogenic

Glycogen storage disease, type II

Criteria Provided
Multiple Submitters
No Conflicts

CA401365341

rs_1555600212

3 SubmittersRCV000665730

NM_000152.5(GAA):c.1326+2T>C

SNV
Unknown

Chr17:80108830

Likely pathogenic

Glycogen storage disease, type II

No Assertion Criteria Provided

CA401365442

rs_1434761678

1 SubmittersRCV000670606

NM_000152.5(GAA):c.1978C>T (p.Arg660Cys)

SNV
Germline

Chr17:80112965

Pathogenic

Glycogen storage disease, type II
Condition: not provided
GAA-related disorder

Reviewed By Expert Panel

CA8815561

rs_759518659

10 SubmittersRCV000674901 RCV001507903 RCV004751659

NM_000152.5(GAA):c.2045A>G (p.Gln682Arg)

SNV
Germline

Chr17:80113222

Conflicting classifications of pathogenicity

Glycogen storage disease, type II
Condition: not provided

Criteria Provided
Conflicting Classifications

CA401370306

rs_1484576607

5 SubmittersRCV000667659 RCV001756129

NM_000152.5(GAA):c.2236T>G (p.Trp746Gly)

SNV
Germline

Chr17:80117014

Pathogenic/Likely pathogenic

Glycogen storage disease, type II
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA401324770

rs_1479740763

8 SubmittersRCV000672437 RCV001784273

NM_000152.5(GAA):c.2314T>C (p.Trp772Arg)

SNV
Germline

Chr17:80117092

Likely pathogenic

Glycogen storage disease, type II

Reviewed By Expert Panel

CA401324918

rs_1555602703

2 SubmittersRCV000667808

NM_000152.5(GAA):c.4G>T (p.Gly2Ter)

SNV
Germline

Chr17:80104590

Likely pathogenic

Elevated circulating creatine kinase concentration
Glycogen storage disease, type II
Melanoma

Reviewed By Expert Panel

CA401359822

rs_1567825175

4 SubmittersRCV000678477 RCV001200874 RCV005901571

NM_000152.5(GAA):c.2228A>G (p.Gln743Arg)

SNV
Germline

Chr17:80117006

Pathogenic/Likely pathogenic

Glycogen storage disease, type II
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA401324753

rs_1567838823

5 SubmittersRCV001193011 RCV003144478

NM_000152.5(GAA):c.1124G>A (p.Arg375His)

SNV
Germline

Chr17:80108537

Pathogenic/Likely pathogenic

Glycogen storage disease, type II
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA8815177

rs_142752477

8 SubmittersRCV000694178 RCV001507901

NM_000152.5(GAA):c.858G>A (p.Thr286=)

SNV
Germline

Chr17:80107722

Likely pathogenic

Glycogen storage disease, type II

Criteria Provided
Multiple Submitters
No Conflicts

CA294889742

rs_201056962

3 SubmittersRCV000694477

NM_000152.5(GAA):c.1114C>T (p.His372Tyr)

SNV
Germline

Chr17:80108527

Conflicting classifications of pathogenicity

Glycogen storage disease, type II
Condition: not provided

Criteria Provided
Conflicting Classifications

CA401364982

rs_1555600070

4 SubmittersRCV000703411 RCV003144561

NM_000152.5(GAA):c.2662G>T (p.Glu888Ter)

SNV
Germline

Chr17:80118668

Pathogenic

Glycogen storage disease, type II
Condition: not provided

Reviewed By Expert Panel

CA8815829

rs_765718882

12 SubmittersRCV000701656 RCV001091540

NM_000152.5(GAA):c.250G>A (p.Val84Ile)

SNV
Germline

Chr17:80104836

Conflicting classifications of pathogenicity

Glycogen storage disease, type II
Condition: not provided
GAA-related disorder

Criteria Provided
Conflicting Classifications

CA8814825

rs_139595011

7 SubmittersRCV000695540 RCV000731464 RCV004751666

NM_000152.5(GAA):c.2381G>A (p.Arg794His)

SNV
Germline

Chr17:80117649

Conflicting classifications of pathogenicity

Glycogen storage disease, type II
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA8815722

rs_200505871

5 SubmittersRCV000688330 RCV003144494 RCV003380677

NM_000152.5(GAA):c.18G>C (p.Pro6=)

SNV
Germline

Chr17:80104604

Conflicting classifications of pathogenicity

Condition: not provided
Glycogen storage disease, type II

Criteria Provided
Conflicting Classifications

CA502176895

rs_774703637

3 SubmittersRCV000728216 RCV001496183

NM_000152.5(GAA):c.1802C>A (p.Ser601Ter)

SNV
Germline

Chr17:80112625

Pathogenic

Condition: not provided
Glycogen storage disease, type II

Reviewed By Expert Panel

CA401369436

rs_374470794

4 SubmittersRCV000728538 RCV001205738

NM_000152.5(GAA):c.1416C>G (p.Thr472=)

SNV
Germline

Chr17:80110034

Conflicting classifications of pathogenicity

Condition: not provided
Glycogen storage disease, type II
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA502178448

rs_368492669

4 SubmittersRCV000730061 RCV001443304 RCV002388362

NM_000152.5(GAA):c.900G>A (p.Ala300=)

SNV
Germline

Chr17:80107841

Conflicting classifications of pathogenicity

Condition: not provided
Glycogen storage disease, type II
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA502402752

rs_759425304

4 SubmittersRCV000730462 RCV001440377 RCV003165968

NM_000152.5(GAA):c.1134C>G (p.Tyr378Ter)

SNV
Germline

Chr17:80108547

Pathogenic

Condition: not provided
Glycogen storage disease, type II

Reviewed By Expert Panel

CA401365023

rs_1567830317

2 SubmittersRCV000731020 RCV001265218

NM_000152.5(GAA):c.67A>G (p.Thr23Ala)

SNV
Germline

Chr17:80104653

Conflicting classifications of pathogenicity

Condition: not provided
Glycogen storage disease, type II

Criteria Provided
Conflicting Classifications

CA8814777

rs_2289537

4 SubmittersRCV000731715 RCV001243448

NM_000152.5(GAA):c.1880C>T (p.Ser627Phe)

SNV
Germline

Chr17:80112703

Pathogenic

Condition: not provided
Glycogen storage disease, type II

Reviewed By Expert Panel

CA294896504

rs_1024137874

8 SubmittersRCV000733480 RCV000814905

NM_000152.5(GAA):c.1572C>A (p.Asn524Lys)

SNV
Germline

Chr17:80110961

Conflicting classifications of pathogenicity

Condition: not provided
Glycogen storage disease, type II

Criteria Provided
Conflicting Classifications

CA401367224

rs_1417304813

3 SubmittersRCV000733568 RCV006612477

NM_000152.5(GAA):c.1326+1G>A

SNV
Germline

Chr17:80108829

Pathogenic

Condition: not provided
Glycogen storage disease, type II

Reviewed By Expert Panel

CA401365436

rs_1205507761

7 SubmittersRCV000734207 RCV001249034

NM_000152.5(GAA):c.1047C>T (p.Ser349=)

SNV
Germline

Chr17:80108381

Conflicting classifications of pathogenicity

Condition: not provided
Glycogen storage disease, type II
Cardiovascular phenotype
GAA-related disorder

Criteria Provided
Conflicting Classifications

CA8815132

rs_138262940

6 SubmittersRCV000734226 RCV001089377 RCV002397516 RCV003892670

NM_000152.5(GAA):c.2052G>C (p.Pro684=)

SNV
Germline

Chr17:80113229

Conflicting classifications of pathogenicity

Condition: not provided
Glycogen storage disease, type II

Criteria Provided
Conflicting Classifications

CA502179111

rs_546463058

2 SubmittersRCV000734360 RCV005092154

NM_000152.5(GAA):c.18G>A (p.Pro6=)

SNV
Germline

Chr17:80104604

Conflicting classifications of pathogenicity

Condition: not provided
Glycogen storage disease, type II

Criteria Provided
Conflicting Classifications

CA8814757

rs_774703637

4 SubmittersRCV000734530 RCV001080426

NM_000152.5(GAA):c.1905C>A (p.Asn635Lys)

SNV
Germline

Chr17:80112892

Likely pathogenic

Glycogen storage disease, type II

Reviewed By Expert Panel

CA401369859

rs_1414146587

4 SubmittersRCV000780271

NM_000152.5(GAA):c.876C>G (p.Tyr292Ter)

SNV
Germline

Chr17:80107817

Pathogenic

Glycogen storage disease, type II

Reviewed By Expert Panel

CA401363871

rs_763216519

2 SubmittersRCV000791246

NM_000152.5(GAA):c.1895T>G (p.Leu632Arg)

SNV
Germline

Chr17:80112882

Pathogenic

Glycogen storage disease, type II

No Assertion Criteria Provided

CA401369835

rs_1598585402

1 SubmittersRCV000791248

NM_000152.5(GAA):c.1538A>G (p.Asp513Gly)

SNV
Germline

Chr17:80110827

Likely pathogenic

Glycogen storage disease, type II

Reviewed By Expert Panel

CA401367134

rs_1598581682

2 SubmittersRCV000791250

NM_000152.5(GAA):c.276C>A (p.Cys92Ter)

SNV
Germline

Chr17:80104862

Likely pathogenic

Glycogen storage disease, type II

Reviewed By Expert Panel

CA401360590

rs_1232001857

4 SubmittersRCV000810454

NM_000152.5(GAA):c.568C>T (p.Arg190Cys)

SNV
Germline

Chr17:80105770

Conflicting classifications of pathogenicity

Glycogen storage disease, type II
Condition: not provided
Cervical cancer

Criteria Provided
Conflicting Classifications

CA8814929

rs_771258854

5 SubmittersRCV000799395 RCV003141792 RCV005901979

NM_000152.5(GAA):c.671G>A (p.Arg224Gln)

SNV
Germline

Chr17:80105873

Likely pathogenic

Glycogen storage disease, type II
Condition: not provided

Reviewed By Expert Panel

CA8814958

rs_200210219

9 SubmittersRCV000822702 RCV001784455

NM_000152.5(GAA):c.1210G>A (p.Asp404Asn)

SNV
Germline

Chr17:80108712

Pathogenic

Glycogen storage disease, type II
Condition: not provided

Reviewed By Expert Panel

CA8815234

rs_141533320

10 SubmittersRCV000813939 RCV001563037

NM_000152.5(GAA):c.1232G>A (p.Arg411Gln)

SNV
Germline

Chr17:80108734

Conflicting classifications of pathogenicity

Glycogen storage disease, type II
GAA-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8815241

rs_372799904

6 SubmittersRCV000814062 RCV003938174 RCV002259372

NM_000152.5(GAA):c.1585T>C (p.Ser529Pro)

SNV
Germline

Chr17:80110974

Pathogenic

Glycogen storage disease, type II

Criteria Provided
Single Submitter

CA401367254

rs_1598582021

1 SubmittersRCV000799681

NM_000152.5(GAA):c.1594G>A (p.Gly532Ser)

SNV
Germline

Chr17:80110983

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA8815388

rs_773576381

7 SubmittersRCV000817631 RCV003141841 RCV003323733

NM_000152.5(GAA):c.1798C>T (p.Arg600Cys)

SNV
Germline

Chr17:80112621

Pathogenic

Glycogen storage disease, type II
Condition: not provided

Reviewed By Expert Panel

CA8815481

rs_764670084

9 SubmittersRCV000794042 RCV001784410

NM_000152.5(GAA):c.1941C>A (p.Cys647Ter)

SNV
Germline

Chr17:80112928

Likely pathogenic

Glycogen storage disease, type II

Reviewed By Expert Panel

CA401369921

rs_776948121

2 SubmittersRCV000821867

NM_000152.5(GAA):c.1943G>T (p.Gly648Val)

SNV
Germline

Chr17:80112930

Likely pathogenic

Glycogen storage disease, type II

Criteria Provided
Single Submitter

CA401369926

rs_1448515860

1 SubmittersRCV000820224

NM_000152.5(GAA):c.2383G>T (p.Glu795Ter)

SNV
Germline

Chr17:80117651

Pathogenic

Glycogen storage disease, type II
Condition: not provided

Reviewed By Expert Panel

CA401325061

rs_886043882

4 SubmittersRCV000804269 RCV001784424

NM_000152.5(GAA):c.2672G>A (p.Arg891His)

SNV
Germline

Chr17:80118678

Conflicting classifications of pathogenicity

Glycogen storage disease, type II
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA8815833

rs_199524847

4 SubmittersRCV000810426 RCV003145164 RCV005831678

NM_000152.5(GAA):c.1438-1G>T

SNV
Germline

Chr17:80110726

Pathogenic/Likely pathogenic

Glycogen storage disease, type II
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA8815346

rs_147804176

8 SubmittersRCV000818785 RCV001785729

NM_000152.5(GAA):c.1193T>C (p.Leu398Pro)

SNV
Germline

Chr17:80108606

Pathogenic/Likely pathogenic

Glycogen storage disease, type II
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA401365139

rs_1598577666

2 SubmittersRCV000855786 RCV002223962

NM_000152.5(GAA):c.693-5C>T

SNV
Germline

Chr17:80107552

Conflicting classifications of pathogenicity

Glycogen storage disease, type II
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8814990

rs_763538104

2 SubmittersRCV000873973 RCV003145216

NM_000152.5(GAA):c.1053G>A (p.Val351=)

SNV
Germline

Chr17:80108387

Conflicting classifications of pathogenicity

Condition: not provided
Glycogen storage disease, type II

Criteria Provided
Conflicting Classifications

CA294891845

rs_773063199

3 SubmittersRCV000926127 RCV001273036

NM_000152.5(GAA):c.2074C>T (p.Gln692Ter)

SNV
Germline

Chr17:80113251

Pathogenic

Glycogen storage disease, type II
Glycogen storage disease due to acid maltase deficiency, late-onset

Criteria Provided
Single Submitter

CA401370437

rs_2039287628

3 SubmittersRCV001056322 RCV006262350

NM_000152.5(GAA):c.316C>G (p.Arg106Gly)

SNV
Germline

Chr17:80104902

Likely pathogenic

Glycogen storage disease, type II

Criteria Provided
Single Submitter

CA401360724

rs_915675670

1 SubmittersRCV001042857

NM_000152.5(GAA):c.322T>A (p.Cys108Ser)

SNV
Germline

Chr17:80104908

Pathogenic

Glycogen storage disease, type II

Criteria Provided
Single Submitter

CA401360738

rs_2039038743

1 SubmittersRCV001051500

NM_000152.5(GAA):c.1000G>A (p.Gly334Ser)

SNV
Germline

Chr17:80108334

Likely pathogenic

Glycogen storage disease, type II

Reviewed By Expert Panel

CA401364531

rs_886042960

3 SubmittersRCV001045915

NM_000152.5(GAA):c.1370C>T (p.Pro457Leu)

SNV
Germline

Chr17:80109988

Pathogenic/Likely pathogenic

Glycogen storage disease, type II

Criteria Provided
Multiple Submitters
No Conflicts

CA401366415

rs_2039191855

2 SubmittersRCV001051159

NM_000152.5(GAA):c.1930G>T (p.Ala644Ser)

SNV
Germline

Chr17:80112917

Conflicting classifications of pathogenicity

Glycogen storage disease, type II

Criteria Provided
Conflicting Classifications

CA8815549

rs_752735168

4 SubmittersRCV001056992

NM_000152.5(GAA):c.1195-2A>C

SNV
Germline

Chr17:80108695

Likely pathogenic

Glycogen storage disease, type II

Criteria Provided
Multiple Submitters
No Conflicts

CA8815229

rs_765360653

2 SubmittersRCV001044684

NM_000152.5(GAA):c.1755-1G>A

SNV
Germline

Chr17:80112577

Pathogenic/Likely pathogenic

Glycogen storage disease, type II

Criteria Provided
Multiple Submitters
No Conflicts

CA401369253

rs_2039261208

2 SubmittersRCV001053073

NM_000152.5(GAA):c.1437+2T>C

SNV
Germline

Chr17:80110057

Pathogenic

Glycogen storage disease, type II

Reviewed By Expert Panel

CA401366685

rs_1598580407

2 SubmittersRCV001053248

NM_000152.5(GAA):c.2716G>A (p.Val906Ile)

SNV
Germline

Chr17:80118722

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA401326980

rs_2039415511

3 SubmittersRCV001091541 RCV005408688 RCV006465340

NM_000152.5(GAA):c.630C>T (p.Ser210=)

SNV
Germline

Chr17:80105832

Conflicting classifications of pathogenicity

Glycogen storage disease, type II
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA8814948

rs_775568949

4 SubmittersRCV001125316 RCV003293891

NM_000152.5(GAA):c.1638G>A (p.Gly546=)

SNV
Germline

Chr17:80111984

Conflicting classifications of pathogenicity

Glycogen storage disease, type II

Criteria Provided
Conflicting Classifications

CA502178825

rs_1260256483

2 SubmittersRCV001126381

NM_000152.5(GAA):c.1734C>T (p.Thr578=)

SNV
Germline

Chr17:80112080

Conflicting classifications of pathogenicity

Glycogen storage disease, type II
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA8815442

rs_149384771

4 SubmittersRCV001126382 RCV004619519

NM_000152.5(GAA):c.2790C>T (p.Pro930=)

SNV
Germline

Chr17:80118796

Conflicting classifications of pathogenicity

Glycogen storage disease, type II

Criteria Provided
Conflicting Classifications

CA502169142

rs_2039418269

3 SubmittersRCV001128526

NM_000152.5(GAA):c.*64G>T

SNV
Germline

Chr17:80119395

Conflicting classifications of pathogenicity

Glycogen storage disease, type II
Condition: not provided

Criteria Provided
Conflicting Classifications

CA294859535

rs_187532717

2 SubmittersRCV001122817 RCV001675984

NM_000152.5(GAA):c.1076-15G>C

SNV
Germline

Chr17:80108474

Conflicting classifications of pathogenicity

Glycogen storage disease, type II

Criteria Provided
Conflicting Classifications

CA8815160

rs_370414054

2 SubmittersRCV001128338

NM_000152.5(GAA):c.2434G>A (p.Asp812Asn)

SNV
Germline

Chr17:80117702

Pathogenic

Glycogen storage disease, type II

Criteria Provided
Single Submitter

CA401325193

rs_1433117170

1 SubmittersRCV001270298

NM_000152.5(GAA):c.307T>C (p.Cys103Arg)

SNV
Germline

Chr17:80104893

Likely pathogenic

Glycogen storage disease, type II

Criteria Provided
Single Submitter

CA401360685

rs_398123174

1 SubmittersRCV001193578

NM_000152.5(GAA):c.836G>A (p.Trp279Ter)

SNV
Germline

Chr17:80107700

Likely pathogenic

Glycogen storage disease, type II

Criteria Provided
Single Submitter

CA401363637

rs_2039122730

1 SubmittersRCV001193013

NM_000152.5(GAA):c.1716C>G (p.His572Gln)

SNV
Germline

Chr17:80112062

Likely pathogenic

Glycogen storage disease, type II
Condition: not provided

Reviewed By Expert Panel

CA401369055

rs_772962666

4 SubmittersRCV001194239 RCV003145370

NM_000152.5(GAA):c.1913G>T (p.Gly638Val)

SNV
Germline

Chr17:80112900

Pathogenic

Glycogen storage disease, type II
Condition: not provided

Reviewed By Expert Panel

CA401369874

rs_1294428728

4 SubmittersRCV001193579 RCV001780099

NM_000152.5(GAA):c.461G>C (p.Arg154Pro)

SNV
Unknown

Chr17:80105047

Likely pathogenic

Glycogen storage disease, type II

Criteria Provided
Single Submitter

CA401361525

rs_781124934

1 SubmittersRCV001196113

NM_000152.5(GAA):c.1194+5G>A

SNV
Germline

Chr17:80108612

Likely pathogenic

Glycogen storage disease, type II

Reviewed By Expert Panel

CA658795243

rs_2039153749

2 SubmittersRCV001196112

NM_000152.5(GAA):c.1820G>A (p.Gly607Asp)

SNV
Germline

Chr17:80112643

Likely pathogenic

Glycogen storage disease, type II
Condition: not provided

Reviewed By Expert Panel

CA401369511

rs_1393386120

9 SubmittersRCV001199946 RCV001780105

NM_000152.5(GAA):c.377G>A (p.Trp126Ter)

SNV
Germline

Chr17:80104963

Pathogenic

Glycogen storage disease, type II

Reviewed By Expert Panel

CA294887189

rs_1011631903

3 SubmittersRCV001200872

NM_000152.5(GAA):c.399C>A (p.Tyr133Ter)

SNV
Germline

Chr17:80104985

Pathogenic

Glycogen storage disease, type II

Reviewed By Expert Panel

CA401361056

rs_2039042313

1 SubmittersRCV001200875

NM_000152.5(GAA):c.955+1G>A

SNV
Germline

Chr17:80107897

Pathogenic

Glycogen storage disease, type II

Reviewed By Expert Panel

CA401364293

rs_1403691329

2 SubmittersRCV001200873

NM_000152.5(GAA):c.1927G>T (p.Gly643Trp)

SNV
Germline

Chr17:80112914

Likely pathogenic

Glycogen storage disease, type II

Criteria Provided
Single Submitter

CA294896832

rs_28937909

1 SubmittersRCV001221761

NM_000152.5(GAA):c.148G>T (p.Glu50Ter)

SNV
Germline

Chr17:80104734

Pathogenic

Glycogen storage disease, type II

Criteria Provided
Single Submitter

CA401360341

rs_1555598609

1 SubmittersRCV001207918

NM_000152.5(GAA):c.378G>A (p.Trp126Ter)

SNV
Germline

Chr17:80104964

Pathogenic

Glycogen storage disease, type II

Reviewed By Expert Panel

CA401360961

rs_2039041225

3 SubmittersRCV001207151

NM_000152.5(GAA):c.643G>T (p.Glu215Ter)

SNV
Germline

Chr17:80105845

Pathogenic

Glycogen storage disease, type II

Criteria Provided
Single Submitter

CA401362407

rs_201286896

1 SubmittersRCV001204589

NM_000152.5(GAA):c.1831G>A (p.Gly611Ser)

SNV
Germline

Chr17:80112654

Likely pathogenic

Glycogen storage disease, type II
Cardiovascular phenotype
Condition: not provided

Reviewed By Expert Panel

CA401369553

rs_1278340100

8 SubmittersRCV001203742 RCV002411745 RCV005633934

NM_000152.5(GAA):c.2284G>T (p.Glu762Ter)

SNV
Germline

Chr17:80117062

Pathogenic

Glycogen storage disease, type II

Criteria Provided
Single Submitter

CA401324858

rs_760063214

1 SubmittersRCV001208814

NM_000152.5(GAA):c.871C>T (p.Leu291Phe)

SNV
Germline

Chr17:80107812

Pathogenic

Glycogen storage disease, type II
Condition: not provided

Reviewed By Expert Panel

CA8815079

rs_773417785

8 SubmittersRCV001228970 RCV001751444

NM_000152.5(GAA):c.883C>A (p.His295Asn)

SNV
Germline

Chr17:80107824

Likely pathogenic

Glycogen storage disease, type II
Condition: not provided

Reviewed By Expert Panel

CA8815081

rs_751639773

5 SubmittersRCV001226064 RCV003145424

NM_000152.5(GAA):c.1211A>G (p.Asp404Gly)

SNV
Germline

Chr17:80108713

Likely pathogenic

Glycogen storage disease, type II

Reviewed By Expert Panel

CA401365192

rs_886042961

4 SubmittersRCV001233390

NM_000152.5(GAA):c.1537G>A (p.Asp513Asn)

SNV
Germline

Chr17:80110826

Likely pathogenic

Glycogen storage disease, type II
Condition: not provided

Reviewed By Expert Panel

CA8815361

rs_748047271

6 SubmittersRCV001233657 RCV001507902

NM_000152.5(GAA):c.1411G>A (p.Glu471Lys)

SNV
Germline

Chr17:80110029

Conflicting classifications of pathogenicity

Glycogen storage disease, type II

Criteria Provided
Conflicting Classifications

CA8815311

rs_189402693

2 SubmittersRCV001240872

NM_000152.5(GAA):c.1754G>A (p.Arg585Lys)

SNV
Germline

Chr17:80112100

Likely pathogenic

Glycogen storage disease, type II

Criteria Provided
Multiple Submitters
No Conflicts

CA8815448

rs_747373179

2 SubmittersRCV001243105

NM_000152.5(GAA):c.1909C>A (p.Leu637Met)

SNV
Germline

Chr17:80112896

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA8815544

rs_763301606

5 SubmittersRCV001245236 RCV003145483 RCV004699232

NM_000152.5(GAA):c.1936G>A (p.Val646Ile)

SNV
Germline

Chr17:80112923

Conflicting classifications of pathogenicity

Glycogen storage disease, type II
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA8815553

rs_770029932

5 SubmittersRCV001245932 RCV002292620 RCV004619588

NM_000152.5(GAA):c.-32-2A>G

SNV
Germline

Chr17:80104553

Pathogenic/Likely pathogenic

Glycogen storage disease, type II

Criteria Provided
Multiple Submitters
No Conflicts

CA628018630

rs_1445232530

3 SubmittersRCV001249079

NM_000152.5(GAA):c.3G>A (p.Met1Ile)

SNV
Germline

Chr17:80104589

Pathogenic/Likely pathogenic

Glycogen storage disease, type II

Criteria Provided
Multiple Submitters
No Conflicts

CA401359809

rs_1187796945

3 SubmittersRCV001249078

NM_000152.5(GAA):c.671G>C (p.Arg224Pro)

SNV
Germline

Chr17:80105873

Likely pathogenic

Glycogen storage disease, type II

Criteria Provided
Single Submitter

CA401362527

rs_200210219

1 SubmittersRCV001249009

NM_000152.5(GAA):c.692+1G>A

SNV
Germline

Chr17:80105895

Pathogenic

Glycogen storage disease, type II

Criteria Provided
Single Submitter

CA401362642

rs_773281453

1 SubmittersRCV001249007

NM_000152.5(GAA):c.692+1G>C

SNV
Germline

Chr17:80105895

Pathogenic

Glycogen storage disease, type II
Condition: not provided

Reviewed By Expert Panel

CA8814965

rs_773281453

4 SubmittersRCV001249008 RCV004719116

NM_000152.5(GAA):c.743T>C (p.Leu248Pro)

SNV
Germline

Chr17:80107607

Likely pathogenic

Glycogen storage disease, type II
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA401363263

rs_1443844938

5 SubmittersRCV001249006 RCV001780193

NM_000152.5(GAA):c.1003G>A (p.Gly335Arg)

SNV
Germline

Chr17:80108337

Likely pathogenic

Glycogen storage disease, type II
Condition: not provided

Reviewed By Expert Panel

CA501005

rs_202095215

8 SubmittersRCV001249005 RCV005633999

NM_000152.5(GAA):c.1100G>A (p.Trp367Ter)

SNV
Germline

Chr17:80108513

Pathogenic

Glycogen storage disease, type II

Criteria Provided
Multiple Submitters
No Conflicts

CA401364953

rs_1478500490

2 SubmittersRCV001248955

NM_000152.5(GAA):c.1195-2A>G

SNV
Germline

Chr17:80108695

Likely pathogenic

Glycogen storage disease, type II

Criteria Provided
Multiple Submitters
No Conflicts

CA8815228

rs_765360653

2 SubmittersRCV001248954

NM_000152.5(GAA):c.1327-2A>G

SNV
Germline

Chr17:80109943

Pathogenic

Glycogen storage disease, type II
Condition: not provided

Reviewed By Expert Panel

CA401366177

rs_1410829147

9 SubmittersRCV001248928 RCV001780192

NM_000152.5(GAA):c.1562A>T (p.Glu521Val)

SNV
Germline

Chr17:80110951

Pathogenic

Glycogen storage disease, type II
Condition: not provided

Reviewed By Expert Panel

CA401367205

rs_1455277014

5 SubmittersRCV001248926 RCV001780190

NM_000152.5(GAA):c.1564C>T (p.Pro522Ser)

SNV
Germline

Chr17:80110953

Likely pathogenic

Glycogen storage disease, type II
Condition: not provided

Reviewed By Expert Panel

CA294895008

rs_892129065

9 SubmittersRCV001248865 RCV001780189

NM_000152.5(GAA):c.1704C>G (p.His568Gln)

SNV
Germline

Chr17:80112050

Conflicting classifications of pathogenicity

Glycogen storage disease, type II

Criteria Provided
Conflicting Classifications

CA401369029

rs_776882059

2 SubmittersRCV001248864

NM_000152.5(GAA):c.1725C>A (p.Tyr575Ter)

SNV
Germline

Chr17:80112071

Pathogenic

Glycogen storage disease, type II

Reviewed By Expert Panel

CA8815439

rs_112517802

3 SubmittersRCV001248863

NM_000152.5(GAA):c.1781G>A (p.Arg594His)

SNV
Germline

Chr17:80112604

Likely pathogenic

Glycoprotein storage disease
Glycogen storage disease, type II
Condition: not provided

Reviewed By Expert Panel

CA8815477

rs_775450536

6 SubmittersRCV001248866 RCV001876297 RCV003142223

NM_000152.5(GAA):c.1804A>G (p.Thr602Ala)

SNV
Germline

Chr17:80112627

Conflicting classifications of pathogenicity

Glycogen storage disease, type II

Criteria Provided
Conflicting Classifications

CA8815484

rs_781484283

2 SubmittersRCV001249048

NM_000152.5(GAA):c.1822C>T (p.Arg608Ter)

SNV
Germline

Chr17:80112645

Pathogenic

Glycogen storage disease, type II
Condition: not provided

Reviewed By Expert Panel

CA8815488

rs_749529161

8 SubmittersRCV001249049 RCV001780194

NM_000152.5(GAA):c.1836C>G (p.His612Gln)

SNV
Germline

Chr17:80112659

Likely pathogenic

Glycogen storage disease, type II

Criteria Provided
Multiple Submitters
No Conflicts

CA401369566

rs_768397968

3 SubmittersRCV001249047

NM_000152.5(GAA):c.1844G>A (p.Gly615Glu)

SNV
Germline

Chr17:80112667

Pathogenic/Likely pathogenic

Glycogen storage disease, type II

Criteria Provided
Multiple Submitters
No Conflicts

CA401369598

rs_1243515778

4 SubmittersRCV001248924

NM_000152.5(GAA):c.1888+1G>A

SNV
Germline

Chr17:80112712

Pathogenic/Likely pathogenic

Glycogen storage disease, type II

Criteria Provided
Multiple Submitters
No Conflicts

CA8815511

rs_776325453

4 SubmittersRCV001249046

NM_000152.5(GAA):c.1943G>A (p.Gly648Asp)

SNV
Germline

Chr17:80112930

Likely pathogenic

Glycogen storage disease, type II

Criteria Provided
Multiple Submitters
No Conflicts

CA401369924

rs_1448515860

3 SubmittersRCV001249045

NM_000152.5(GAA):c.1958C>A (p.Thr653Asn)

SNV
Germline

Chr17:80112945

Likely pathogenic

Glycogen storage disease, type II

Reviewed By Expert Panel

CA8815557

rs_763456921

5 SubmittersRCV001249044

NM_000152.5(GAA):c.2041-1G>A

SNV
Germline

Chr17:80113217

Pathogenic/Likely pathogenic

Glycogen storage disease, type II
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA8815596

rs_760731229

3 SubmittersRCV001249033 RCV005909192

NM_000152.5(GAA):c.2210C>A (p.Thr737Asn)

SNV
Germline

Chr17:80116988

Likely pathogenic

Glycogen storage disease, type II

Criteria Provided
Multiple Submitters
No Conflicts

CA401324721

rs_1381005435

2 SubmittersRCV001249032

NM_000152.5(GAA):c.2846T>A (p.Val949Asp)

SNV
Germline

Chr17:80119318

Conflicting classifications of pathogenicity

Glycogen storage disease, type II
Condition: not provided

Criteria Provided
Conflicting Classifications

CA401327972

rs_1245412108

5 SubmittersRCV001248925 RCV005633998

NM_000152.5(GAA):c.1657C>T (p.Gln553Ter)

SNV
Germline

Chr17:80112003

Pathogenic

Glycogen storage disease, type II
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
Condition: not provided

Reviewed By Expert Panel

CA401368835

rs_1221156663

8 SubmittersRCV001261625 RCV001283827 RCV001702092

NM_000152.5(GAA):c.1445C>T (p.Pro482Leu)

SNV
Germline

Chr17:80110734

Likely pathogenic

Glycogen storage disease, type II
Condition: not provided

Reviewed By Expert Panel

CA401366796

rs_2039212985

8 SubmittersRCV001261923 RCV001780211

NM_000152.5(GAA):c.1001G>A (p.Gly334Asp)

SNV
Germline

Chr17:80108335

Pathogenic/Likely pathogenic

Glycogen storage disease, type II

Criteria Provided
Multiple Submitters
No Conflicts

CA401364535

rs_2039143109

2 SubmittersRCV001261939

NM_000152.5(GAA):c.904G>T (p.Glu302Ter)

SNV
Unknown

Chr17:80107845

Likely pathogenic

Glycogen storage disease, type II

Criteria Provided
Single Submitter

CA401363984

rs_2039131123

1 SubmittersRCV001263722

NM_000152.5(GAA):c.917C>A (p.Ser306Ter)

SNV
Unknown

Chr17:80107858

Likely pathogenic

Glycogen storage disease, type II

Criteria Provided
Single Submitter

CA401364041

rs_138097673

1 SubmittersRCV001263723

NM_000152.5(GAA):c.1547G>A (p.Trp516Ter)

SNV
Germline

Chr17:80110836

Pathogenic/Likely pathogenic

Glycogen storage disease, type II
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA401367155

rs_2039217093

2 SubmittersRCV001263724 RCV001780215

NM_000152.5(GAA):c.2130C>A (p.Tyr710Ter)

SNV
Unknown

Chr17:80113307

Likely pathogenic

Glycogen storage disease, type II

Criteria Provided
Single Submitter

CA401370551

rs_2039289942

1 SubmittersRCV001263725

NM_000152.5(GAA):c.2143C>T (p.Gln715Ter)

SNV
Germline

Chr17:80113320

Pathogenic/Likely pathogenic

Glycogen storage disease, type II
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA401370578

rs_1275298143

4 SubmittersRCV001263726 RCV005634008

NM_000152.5(GAA):c.2545A>T (p.Lys849Ter)

SNV
Unknown

Chr17:80118256

Likely pathogenic

Glycogen storage disease, type II

Criteria Provided
Single Submitter

CA401326136

rs_2039403673

1 SubmittersRCV001263815

NM_000152.5(GAA):c.2619C>A (p.Tyr873Ter)

SNV
Unknown

Chr17:80118330

Likely pathogenic

Glycogen storage disease, type II

Criteria Provided
Single Submitter

CA401326387

rs_1555603132

1 SubmittersRCV001263816

NM_000152.5(GAA):c.1A>T (p.Met1Leu)

SNV
Germline

Chr17:80104587

Likely pathogenic

Glycogen storage disease, type II

Reviewed By Expert Panel

CA401359799

rs_786204467

2 SubmittersRCV001265217

NM_000152.5(GAA):c.2T>C (p.Met1Thr)

SNV
Germline

Chr17:80104588

Pathogenic

Glycogen storage disease, type II

Reviewed By Expert Panel

CA401359804

rs_2039024047

1 SubmittersRCV001265227

NM_000152.5(GAA):c.763C>T (p.Gln255Ter)

SNV
Germline

Chr17:80107627

Pathogenic

Glycogen storage disease, type II

Reviewed By Expert Panel

CA401363371

rs_2039118159

1 SubmittersRCV001265223

NM_000152.5(GAA):c.2040G>A (p.Leu680=)

SNV
Germline

Chr17:80113027

Likely pathogenic

Glycogen storage disease, type II
Condition: not provided

Reviewed By Expert Panel

CA502179100

rs_2039280842

2 SubmittersRCV001265222 RCV003135906

NM_000152.5(GAA):c.1844G>T (p.Gly615Val)

SNV
Germline

Chr17:80112667

Pathogenic

Glycogen storage disease, type II

Criteria Provided
Single Submitter

CA401369601

rs_1243515778

1 SubmittersRCV001298620

NM_000152.5(GAA):c.2296T>A (p.Tyr766Asn)

SNV
Germline

Chr17:80117074

Conflicting classifications of pathogenicity

Glycogen storage disease, type II
Condition: not provided

Criteria Provided
Conflicting Classifications

CA294856634

rs_941181575

5 SubmittersRCV001302690 RCV003145534

NM_000152.5(GAA):c.569G>T (p.Arg190Leu)

SNV
Germline

Chr17:80105771

Conflicting classifications of pathogenicity

Glycogen storage disease, type II
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8814930

rs_528367092

5 SubmittersRCV001312414 RCV003145549

NM_000152.5(GAA):c.364A>G (p.Met122Val)

SNV
Germline

Chr17:80104950

Likely pathogenic

Glycogen storage disease, type II

Criteria Provided
Single Submitter

CA401360899

rs_2039040448

1 SubmittersRCV001350022

NM_000152.5(GAA):c.1103G>A (p.Gly368Asp)

SNV
Germline

Chr17:80108516

Likely pathogenic

Glycogen storage disease, type II
Condition: not provided

Reviewed By Expert Panel

CA294892175

rs_368244038

5 SubmittersRCV001340781 RCV003145584

NM_000152.5(GAA):c.1106T>C (p.Leu369Pro)

SNV
Germline

Chr17:80108519

Likely pathogenic

Glycogen storage disease, type II

Reviewed By Expert Panel

CA401364964

rs_2039149745

4 SubmittersRCV001337394

NM_000152.5(GAA):c.2294G>A (p.Gly765Asp)

SNV
Germline

Chr17:80117072

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA401324880

rs_1292367136

5 SubmittersRCV001345891 RCV003235554 RCV005634086

NM_000152.5(GAA):c.732G>C (p.Gln244His)

SNV
Germline

Chr17:80107596

Conflicting classifications of pathogenicity

Glycogen storage disease, type II
Condition: not provided

Criteria Provided
Conflicting Classifications

CA401363204

rs_1178922366

3 SubmittersRCV001359163 RCV003132459

NM_000152.5(GAA):c.1633C>T (p.Pro545Ser)

SNV
Germline

Chr17:80111022

Likely pathogenic

Glycogen storage disease, type II

Criteria Provided
Single Submitter

CA401367384

rs_2143875175

1 SubmittersRCV001372138

NM_000152.5(GAA):c.1551+1G>A

SNV
Germline

Chr17:80110841

Pathogenic

Glycogen storage disease, type II
Condition: not provided

Reviewed By Expert Panel

CA401367166

rs_770780848

5 SubmittersRCV001375542 RCV005628907

NM_000152.5(GAA):c.1445C>G (p.Pro482Arg)

SNV
Germline

Chr17:80110734

Likely pathogenic

Glycogen storage disease, type II
Condition: not provided

Reviewed By Expert Panel

CA401366794

rs_2039212985

7 SubmittersRCV001378875 RCV001780289

NM_000152.5(GAA):c.1555A>G (p.Met519Val)

SNV
Germline

Chr17:80110944

Conflicting classifications of pathogenicity

Glycogen storage disease, type II
Condition: not provided

Criteria Provided
Conflicting Classifications

CA401367186

rs_1598581919

6 SubmittersRCV001379276 RCV002223308

NM_000152.5(GAA):c.1134C>A (p.Tyr378Ter)

SNV
Germline

Chr17:80108547

Pathogenic

Glycogen storage disease, type II

Criteria Provided
Single Submitter

CA401365022

rs_1567830317

1 SubmittersRCV001382744

NM_000152.5(GAA):c.1214T>C (p.Leu405Pro)

SNV
Germline

Chr17:80108716

Pathogenic/Likely pathogenic

Glycogen storage disease, type II

Criteria Provided
Multiple Submitters
No Conflicts

CA401365198

rs_2143857207

2 SubmittersRCV001380442

NM_000152.5(GAA):c.1443G>A (p.Trp481Ter)

SNV
Germline

Chr17:80110732

Pathogenic

Glycogen storage disease, type II

Criteria Provided
Multiple Submitters
No Conflicts

CA401366781

rs_2143871845

2 SubmittersRCV001386359

NM_000152.5(GAA):c.1987C>T (p.Gln663Ter)

SNV
Germline

Chr17:80112974

Pathogenic

Glycogen storage disease, type II

Criteria Provided
Single Submitter

CA401370018

rs_2143892654

1 SubmittersRCV001382470

NM_000152.5(GAA):c.2167G>A (p.Val723Met)

SNV
Germline

Chr17:80113344

Pathogenic/Likely pathogenic

Glycogen storage disease, type II
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA8815635

rs_767247397

4 SubmittersRCV001383433 RCV001780325

NM_000152.5(GAA):c.2392A>G (p.Ile798Val)

SNV
Germline

Chr17:80117660

Conflicting classifications of pathogenicity

Glycogen storage disease, type II
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8815725

rs_752459996

3 SubmittersRCV001468883 RCV006279682

NM_000152.5(GAA):c.610G>A (p.Ala204Thr)

SNV
Germline

Chr17:80105812

Conflicting classifications of pathogenicity

Glycogen storage disease, type II

Criteria Provided
Conflicting Classifications

CA8814942

rs_780799275

2 SubmittersRCV001494402

NM_000152.5(GAA):c.750C>T (p.Thr250=)

SNV
Germline

Chr17:80107614

Conflicting classifications of pathogenicity

Glycogen storage disease, type II
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA502402614

rs_2143846283

3 SubmittersRCV001500553 RCV004995914

NM_000152.5(GAA):c.701C>T (p.Thr234Met)

SNV
Germline

Chr17:80107565

Conflicting classifications of pathogenicity

Condition: not provided
Glycogen storage disease, type II

Criteria Provided
Conflicting Classifications

CA8814994

rs_752054011

5 SubmittersRCV001551208 RCV001832749

NM_000152.5(GAA):c.2482-2A>G

SNV
Germline

Chr17:80118191

Pathogenic/Likely pathogenic

Glycogen storage disease, type II
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA8815772

rs_756671283

5 SubmittersRCV001582397 RCV005635186

NM_000152.5(GAA):c.2332-2A>G

SNV
Germline

Chr17:80117598

Likely pathogenic

Condition: not provided
Glycogen storage disease, type II

Reviewed By Expert Panel

CA401324961

rs_112098197

4 SubmittersRCV001774199 RCV002034486

NM_000152.5(GAA):c.2623C>T (p.Gln875Ter)

SNV
Germline

Chr17:80118334

Pathogenic

Condition: not provided
Glycogen storage disease, type II

Criteria Provided
Multiple Submitters
No Conflicts

CA401326401

rs_2143930800

2 SubmittersRCV001783331 RCV003609190

NM_000152.5(GAA):c.309C>A (p.Cys103Ter)

SNV
Germline

Chr17:80104895

Pathogenic

Condition: not provided
Glycogen storage disease, type II

Criteria Provided
Multiple Submitters
No Conflicts

CA401360695

rs_373307393

2 SubmittersRCV001783338 RCV003502608

NM_000152.5(GAA):c.2055C>A (p.Tyr685Ter)

SNV
Germline

Chr17:80113232

Pathogenic

Condition: not provided
Glycogen storage disease, type II

Reviewed By Expert Panel

CA401370359

rs_750214208

2 SubmittersRCV001783340 RCV005645296

NM_000152.5(GAA):c.2161G>T (p.Glu721Ter)

SNV
Germline

Chr17:80113338

Pathogenic

Condition: not provided
Glycogen storage disease, type II

Reviewed By Expert Panel

CA401370611

rs_140376273

3 SubmittersRCV001785856 RCV003464134

NM_000152.5(GAA):c.2646+1G>A

SNV
Germline

Chr17:80118358

Pathogenic/Likely pathogenic

Condition: not provided
Glycogen storage disease, type II
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA401326508

rs_2143931061

4 SubmittersRCV001781141 RCV002541194 RCV005831967

NM_000152.5(GAA):c.877G>C (p.Gly293Arg)

SNV
Germline

Chr17:80107818

Pathogenic/Likely pathogenic

Condition: not provided
Glycogen storage disease, type II

Criteria Provided
Multiple Submitters
No Conflicts

CA401363876

rs_121907945

2 SubmittersRCV001781143 RCV006616563

NM_000152.5(GAA):c.1703A>T (p.His568Leu)

SNV
Germline

Chr17:80112049

Pathogenic/Likely pathogenic

Condition: not provided
Glycogen storage disease, type II

Criteria Provided
Multiple Submitters
No Conflicts

CA401369027

rs_2143882997

3 SubmittersRCV001781144 RCV001885183

NM_000152.5(GAA):c.872T>C (p.Leu291Pro)

SNV
Germline

Chr17:80107813

Pathogenic

Glycogen storage disease, type II

Reviewed By Expert Panel

CA401363854

rs_2143849151

1 SubmittersRCV001789730

NM_000152.5(GAA):c.444C>G (p.Tyr148Ter)

SNV
Germline

Chr17:80105030

Pathogenic

Glycogen storage disease, type II

Reviewed By Expert Panel

CA401361416

rs_886043112

2 SubmittersRCV001789731

NM_000152.5(GAA):c.1748C>T (p.Ser583Phe)

SNV
Germline

Chr17:80112094

Pathogenic/Likely pathogenic

Glycogen storage disease, type II

Criteria Provided
Multiple Submitters
No Conflicts

CA401369174

rs_2143883845

2 SubmittersRCV001806841

NM_000152.5(GAA):c.1565C>T (p.Pro522Leu)

SNV
Germline

Chr17:80110954

Likely pathogenic

Glycogen storage disease, type II

Criteria Provided
Single Submitter

CA401367210

rs_2143874287

1 SubmittersRCV002035896

NM_000152.5(GAA):c.2189+3G>C

SNV
Germline

Chr17:80113369

Likely pathogenic

Glycogen storage disease, type II

Reviewed By Expert Panel

CA658795276

rs_2143897458

3 SubmittersRCV001913588

NM_000152.5(GAA):c.1075+2T>A

SNV
Germline

Chr17:80108411

Likely pathogenic

Glycogen storage disease, type II

Criteria Provided
Single Submitter

CA401364844

rs_2143853890

1 SubmittersRCV002046393

NM_000152.5(GAA):c.923A>C (p.His308Pro)

SNV
Germline

Chr17:80107864

Pathogenic/Likely pathogenic

Glycogen storage disease, type II
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA401364056

rs_2143849751

3 SubmittersRCV001984443 RCV005635413

NM_000152.5(GAA):c.2131A>C (p.Thr711Pro)

SNV
Germline

Chr17:80113308

Likely pathogenic

Glycogen storage disease, type II

Criteria Provided
Multiple Submitters
No Conflicts

CA401370552

rs_2143896492

2 SubmittersRCV001985774

NM_000152.5(GAA):c.355G>T (p.Gly119Ter)

SNV
Germline

Chr17:80104941

Pathogenic/Likely pathogenic

Glycogen storage disease, type II

Criteria Provided
Multiple Submitters
No Conflicts

CA401360871

rs_1555598802

2 SubmittersRCV001941834

NM_000152.5(GAA):c.1557G>A (p.Met519Ile)

SNV
Germline

Chr17:80110946

Pathogenic

Glycogen storage disease, type II

Criteria Provided
Multiple Submitters
No Conflicts

CA401367190

rs_1447365901

2 SubmittersRCV001933170

NM_000152.5(GAA):c.2109C>A (p.Tyr703Ter)

SNV
Germline

Chr17:80113286

Pathogenic

Glycogen storage disease, type II

Criteria Provided
Single Submitter

CA401370510

rs_150728610

1 SubmittersRCV001946756

NM_000152.5(GAA):c.2782T>C (p.Tyr928His)

SNV
Germline

Chr17:80118788

Likely pathogenic

Glycogen storage disease, type II

Criteria Provided
Single Submitter

CA401327369

rs_2143934702

1 SubmittersRCV001998851

NM_000152.5(GAA):c.547-1G>C

SNV
Germline

Chr17:80105748

Pathogenic

Glycogen storage disease, type II

Criteria Provided
Single Submitter

CA401362012

rs_2143833579

1 SubmittersRCV001959745

NM_000152.5(GAA):c.693-1G>C

SNV
Germline

Chr17:80107556

Likely pathogenic

Glycogen storage disease, type II

Criteria Provided
Single Submitter

CA401362948

rs_2143845687

1 SubmittersRCV002015607

NM_000152.5(GAA):c.1585T>G (p.Ser529Ala)

SNV
Germline

Chr17:80110974

Likely pathogenic

Glycogen storage disease, type II

Criteria Provided
Single Submitter

CA401367255

rs_1598582021

1 SubmittersRCV002029051

NM_000152.5(GAA):c.1076-1G>C

SNV
Germline

Chr17:80108488

Pathogenic

Glycogen storage disease, type II

Reviewed By Expert Panel

CA401364879

rs_1555600050

3 SubmittersRCV002049620

NM_000152.5(GAA):c.361C>T (p.Gln121Ter)

SNV
Germline

Chr17:80104947

Pathogenic/Likely pathogenic

Glycogen storage disease, type II

Criteria Provided
Multiple Submitters
No Conflicts

CA8814856

rs_750668627

2 SubmittersRCV001876861

NM_000152.5(GAA):c.1463C>T (p.Pro488Leu)

SNV
Germline

Chr17:80110752

Conflicting classifications of pathogenicity

Condition: not provided
Glycogen storage disease, type II

Criteria Provided
Conflicting Classifications

CA401366865

rs_2143872219

2 SubmittersRCV003136406 RCV002003010

NM_000152.5(GAA):c.1798C>G (p.Arg600Gly)

SNV
Germline

Chr17:80112621

Likely pathogenic

Glycogen storage disease, type II

Criteria Provided
Single Submitter

CA401369421

rs_764670084

1 SubmittersRCV002011686

NM_000152.5(GAA):c.1637-2A>G

SNV
Germline

Chr17:80111981

Pathogenic

Glycogen storage disease, type II

Criteria Provided
Single Submitter

CA401368702

rs_2143882034

1 SubmittersRCV001960734

NM_000152.5(GAA):c.1118T>G (p.Leu373Arg)

SNV
Germline

Chr17:80108531

Conflicting classifications of pathogenicity

Glycogen storage disease, type II
Condition: not provided

Criteria Provided
Conflicting Classifications

CA401364991

rs_2039150286

3 SubmittersRCV001880433 RCV003136211

NM_000152.5(GAA):c.1846G>A (p.Asp616Asn)

SNV
Germline

Chr17:80112669

Pathogenic/Likely pathogenic

Glycogen storage disease, type II
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA294896447

rs_796161389

2 SubmittersRCV001918845 RCV003490935

NM_000152.5(GAA):c.304C>T (p.Gln102Ter)

SNV
Germline

Chr17:80104890

Pathogenic

Glycogen storage disease, type II

Criteria Provided
Single Submitter

CA401360674

rs_1432841878

1 SubmittersRCV001994841

NM_000152.5(GAA):c.1003G>T (p.Gly335Trp)

SNV
Germline

Chr17:80108337

Likely pathogenic

Glycogen storage disease, type II

Criteria Provided
Single Submitter

CA401364543

rs_202095215

1 SubmittersRCV002030183

NM_000152.5(GAA):c.2332-16C>T

SNV
Germline

Chr17:80117584

Conflicting classifications of pathogenicity

Glycogen storage disease, type II

Criteria Provided
Conflicting Classifications

CA2277817555

rs_2039383167

2 SubmittersRCV002037981

NM_000152.5(GAA):c.1376A>T (p.Asp459Val)

SNV
Germline

Chr17:80109994

Likely pathogenic

Glycogen storage disease, type II

Criteria Provided
Single Submitter

CA401366440

rs_2143866303

1 SubmittersRCV002028157

NM_000152.5(GAA):c.1903A>G (p.Asn635Asp)

SNV
Germline

Chr17:80112890

Likely pathogenic

Glycogen storage disease, type II
Condition: not provided

Reviewed By Expert Panel

CA401369854

rs_2143891559

6 SubmittersRCV002033332 RCV002261395

NM_000152.5(GAA):c.2481+15C>T

SNV
Germline

Chr17:80117764

Conflicting classifications of pathogenicity

Glycogen storage disease, type II

Criteria Provided
Conflicting Classifications

CA8815755

rs_771155956

2 SubmittersRCV001991385

NM_000152.5(GAA):c.309C>G (p.Cys103Trp)

SNV
Germline

Chr17:80104895

Pathogenic

Glycogen storage disease, type II

Criteria Provided
Multiple Submitters
No Conflicts

CA401360696

rs_373307393

2 SubmittersRCV001896806

NM_000152.5(GAA):c.859-2A>G

SNV
Germline

Chr17:80107798

Pathogenic/Likely pathogenic

Glycogen storage disease, type II

Criteria Provided
Multiple Submitters
No Conflicts

CA401363787

rs_2143848897

2 SubmittersRCV002030510

NM_000152.5(GAA):c.2131A>G (p.Thr711Ala)

SNV
Germline

Chr17:80113308

Likely pathogenic

Glycogen storage disease, type II

Criteria Provided
Single Submitter

CA401370553

rs_2143896492

1 SubmittersRCV001961567

NM_000152.5(GAA):c.2040+1G>C

SNV
Germline

Chr17:80113028

Pathogenic

Glycogen storage disease, type II

Criteria Provided
Single Submitter

CA401370207

rs_1057516928

1 SubmittersRCV001952864

NM_000152.5(GAA):c.308G>A (p.Cys103Tyr)

SNV
Germline

Chr17:80104894

Likely pathogenic

Glycogen storage disease, type II

Criteria Provided
Single Submitter

CA401360690

rs_2143827215

1 SubmittersRCV002045222

NM_000152.5(GAA):c.138C>G (p.Ser46=)

SNV
Germline

Chr17:80104724

Conflicting classifications of pathogenicity

Glycogen storage disease, type II
Condition: not provided

Criteria Provided
Conflicting Classifications

CA502177138

rs_753375900

3 SubmittersRCV002138198 RCV003134392

NM_000152.5(GAA):c.246C>A (p.Cys82Ter)

SNV
Germline

Chr17:80104832

Pathogenic

Glycogen storage disease, type II

Reviewed By Expert Panel

CA401360532

rs_749584846

2 SubmittersRCV002260939

NM_000152.5(GAA):c.1670T>G (p.Ile557Ser)

SNV
Germline

Chr17:80112016

Likely pathogenic

Glycogen storage disease, type II

Reviewed By Expert Panel

CA401368920

rs_1408164312

1 SubmittersRCV002260940

NM_000152.5(GAA):c.1385T>C (p.Leu462Pro)

SNV
Germline

Chr17:80110003

Likely pathogenic

Glycogen storage disease, type II

Reviewed By Expert Panel

CA401366477

rs_2143866454

2 SubmittersRCV002260941

NM_000152.5(GAA):c.2456G>C (p.Arg819Pro)

SNV
Germline

Chr17:80117724

Likely pathogenic

Glycogen storage disease, type II
Condition: not provided

Reviewed By Expert Panel

CA401325305

rs_374687883

4 SubmittersRCV002260943 RCV003491062

NM_000152.5(GAA):c.2411G>A (p.Trp804Ter)

SNV
Germline

Chr17:80117679

Pathogenic

Glycogen storage disease, type II

Reviewed By Expert Panel

CA401325125

rs_2143925134

3 SubmittersRCV002260945

NM_000152.5(GAA):c.2738C>G (p.Pro913Arg)

SNV
Germline

Chr17:80118744

Conflicting classifications of pathogenicity

Condition: not provided
Glycogen storage disease, type II

Criteria Provided
Conflicting Classifications

CA401327099

rs_1480070037

2 SubmittersRCV002275756 RCV006470397

NM_000152.5(GAA):c.1106T>A (p.Leu369Gln)

SNV
Germline

Chr17:80108519

Likely pathogenic

Glycogen storage disease, type II

Criteria Provided
Single Submitter

CA401364963

rs_2039149745

1 SubmittersRCV002289401

NM_000152.5(GAA):c.1497G>A (p.Trp499Ter)

SNV
Germline

Chr17:80110786

Pathogenic

Condition: not provided
Glycogen storage disease, type II

Reviewed By Expert Panel

CA401367008

rs_2510373982

2 SubmittersRCV002292963 RCV005645374

NM_000152.5(GAA):c.2319C>A (p.Tyr773Ter)

SNV
Unknown

Chr17:80117097

Likely pathogenic

Glycogen storage disease, type II

Criteria Provided
Single Submitter

CA401324932

rs_377402848

1 SubmittersRCV002308077

NM_000152.5(GAA):c.1020C>G (p.Tyr340Ter)

SNV
Unknown

Chr17:80108354

Likely pathogenic

Glycogen storage disease, type II

Criteria Provided
Single Submitter

CA401364608

rs_1358917187

1 SubmittersRCV002306891

NM_000152.5(GAA):c.1720C>T (p.Leu574Phe)

SNV
Germline

Chr17:80112066

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Glycogen storage disease, type II

Criteria Provided
Conflicting Classifications

CA401369071

rs_1334888803

2 SubmittersRCV002399054 RCV006470979

NM_000152.5(GAA):c.546+2T>C

SNV
Germline

Chr17:80105134

Likely pathogenic

Glycogen storage disease, type II

Criteria Provided
Single Submitter

CA401361919

rs_2510347655

1 SubmittersRCV003064492

NM_000152.5(GAA):c.1054C>T (p.Gln352Ter)

SNV
Germline

Chr17:80108388

Pathogenic

Glycogen storage disease, type II

Criteria Provided
Single Submitter

CA294891876

rs_764355476

1 SubmittersRCV003064493

NM_000152.5(GAA):c.1827C>G (p.Tyr609Ter)

SNV
Germline

Chr17:80112650

Pathogenic

Glycogen storage disease, type II

Reviewed By Expert Panel

CA401369534

rs_745754277

2 SubmittersRCV003050496

NM_000152.5(GAA):c.922C>G (p.His308Asp)

SNV
Germline

Chr17:80107863

Likely pathogenic

Glycogen storage disease, type II

Criteria Provided
Single Submitter

CA401364054

rs_112025212

2 SubmittersRCV003073819

NM_000152.5(GAA):c.1309C>A (p.Arg437Ser)

SNV
Germline

Chr17:80108811

Conflicting classifications of pathogenicity

Glycogen storage disease, type II
Condition: not provided

Criteria Provided
Conflicting Classifications

CA401365399

rs_770610356

2 SubmittersRCV003083785 RCV004790354

NM_000152.5(GAA):c.1396G>T (p.Val466Phe)

SNV
Germline

Chr17:80110014

Likely pathogenic

Glycogen storage disease, type II

Criteria Provided
Multiple Submitters
No Conflicts

CA401366509

rs_375006053

2 SubmittersRCV003081787

NM_000152.5(GAA):c.1477C>T (p.Pro493Ser)

SNV
Germline

Chr17:80110766

Likely pathogenic

Glycogen storage disease, type II
Condition: not provided

Reviewed By Expert Panel

CA401366926

rs_1555600755

3 SubmittersRCV003087709 RCV003143480

NM_000152.5(GAA):c.1645G>A (p.Gly549Arg)

SNV
Germline

Chr17:80111991

Pathogenic

Glycogen storage disease, type II

Criteria Provided
Single Submitter

CA401368765

rs_780800306

1 SubmittersRCV002629939

NM_000152.5(GAA):c.1853G>A (p.Trp618Ter)

SNV
Germline

Chr17:80112676

Pathogenic

Glycogen storage disease, type II
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA401369637

rs_1384805011

3 SubmittersRCV003112390 RCV005636836

NM_000152.5(GAA):c.2619C>G (p.Tyr873Ter)

SNV
Germline

Chr17:80118330

Pathogenic

Glycogen storage disease, type II

Criteria Provided
Single Submitter

CA401326389

rs_1555603132

1 SubmittersRCV003112391

NM_000152.5(GAA):c.844G>C (p.Asp282His)

SNV
Germline

Chr17:80107708

Pathogenic/Likely pathogenic

Glycogen storage disease, type II

Criteria Provided
Multiple Submitters
No Conflicts

CA401363671

rs_1264889089

4 SubmittersRCV002512505

NM_000152.5(GAA):c.1827C>A (p.Tyr609Ter)

SNV
Germline

Chr17:80112650

Pathogenic

Glycogen storage disease, type II

Criteria Provided
Single Submitter

CA401369533

rs_745754277

1 SubmittersRCV002580333

NM_000152.5(GAA):c.2040+2T>G

SNV
Germline

Chr17:80113029

Pathogenic/Likely pathogenic

Glycogen storage disease, type II

Criteria Provided
Multiple Submitters
No Conflicts

CA401370214

rs_2510384401

2 SubmittersRCV002643069

NM_000152.5(GAA):c.1754+2T>C

SNV
Germline

Chr17:80112102

Likely pathogenic

Glycogen storage disease, type II

Reviewed By Expert Panel

CA401369202

rs_2143884018

2 SubmittersRCV002667301

NM_000152.5(GAA):c.700A>G (p.Thr234Ala)

SNV
Germline

Chr17:80107564

Conflicting classifications of pathogenicity

Condition: not provided
Glycogen storage disease, type II

Criteria Provided
Conflicting Classifications

CA8814993

rs_766931184

3 SubmittersRCV003146611 RCV002740069

NM_000152.5(GAA):c.2238G>T (p.Trp746Cys)

SNV
Germline

Chr17:80117016

Likely pathogenic

Glycogen storage disease, type II

Reviewed By Expert Panel

CA401324771

rs_1800312

2 SubmittersRCV002745939

NM_000152.5(GAA):c.1848C>A (p.Asp616Glu)

SNV
Germline

Chr17:80112671

Conflicting classifications of pathogenicity

Glycogen storage disease, type II
Condition: not provided

Criteria Provided
Conflicting Classifications

CA401369615

rs_377175810

2 SubmittersRCV002726308 RCV005635601

NM_000152.5(GAA):c.2800-1G>A

SNV
Germline

Chr17:80119271

Conflicting classifications of pathogenicity

Glycogen storage disease, type II

Criteria Provided
Conflicting Classifications

CA401327621

rs_1328159128

2 SubmittersRCV002761303

NM_000152.5(GAA):c.265C>A (p.Arg89Ser)

SNV
Germline

Chr17:80104851

Likely pathogenic

Glycogen storage disease, type II

Criteria Provided
Single Submitter

CA401360567

rs_534192892

1 SubmittersRCV002795518

NM_000152.5(GAA):c.1285C>T (p.Gln429Ter)

SNV
Germline

Chr17:80108787

Pathogenic

Glycogen storage disease, type II

Criteria Provided
Single Submitter

CA401365353

rs_528369909

1 SubmittersRCV002796176

NM_000152.5(GAA):c.739C>T (p.Gln247Ter)

SNV
Germline

Chr17:80107603

Pathogenic

Glycogen storage disease, type II

Criteria Provided
Single Submitter

CA401363242

rs_2510357571

1 SubmittersRCV002856619

NM_000152.5(GAA):c.2577G>A (p.Trp859Ter)

SNV
Germline

Chr17:80118288

Pathogenic

Glycogen storage disease, type II

Criteria Provided
Multiple Submitters
No Conflicts

CA8815791

rs_757577323

2 SubmittersRCV002871829

NM_000152.5(GAA):c.1370C>G (p.Pro457Arg)

SNV
Germline

Chr17:80109988

Pathogenic/Likely pathogenic

Glycogen storage disease, type II

Criteria Provided
Multiple Submitters
No Conflicts

CA401366413

rs_2039191855

2 SubmittersRCV002877500

NM_000152.5(GAA):c.2647-2A>G

SNV
Germline

Chr17:80118651

Likely pathogenic

Glycogen storage disease, type II

Criteria Provided
Multiple Submitters
No Conflicts

CA401326568

rs_2510404041

3 SubmittersRCV002966541

NM_000152.5(GAA):c.1314C>A (p.Tyr438Ter)

SNV
Germline

Chr17:80108816

Pathogenic

Glycogen storage disease, type II

Criteria Provided
Single Submitter

CA401365408

rs_1333715186

1 SubmittersRCV002949368

NM_000152.5(GAA):c.990G>C (p.Trp330Cys)

SNV
Germline

Chr17:80108324

Likely pathogenic

Glycogen storage disease, type II

Criteria Provided
Single Submitter

CA401364494

rs_2510362025

1 SubmittersRCV002966164

NM_000152.5(GAA):c.693-2A>C

SNV
Germline

Chr17:80107555

Likely pathogenic

Glycogen storage disease, type II

Criteria Provided
Single Submitter

CA401362933

rs_1555599571

1 SubmittersRCV003021550

NM_000152.5(GAA):c.1646G>A (p.Gly549Glu)

SNV
Germline

Chr17:80111992

Likely pathogenic

Glycogen storage disease, type II

Criteria Provided
Single Submitter

CA401368771

rs_2039246325

1 SubmittersRCV003007973

NM_000152.5(GAA):c.1819G>T (p.Gly607Cys)

SNV
Germline

Chr17:80112642

Likely pathogenic

Glycogen storage disease, type II

Criteria Provided
Single Submitter

CA401369504

rs_940955642

1 SubmittersRCV003030285

NM_000152.5(GAA):c.584T>A (p.Leu195Ter)

SNV
Germline

Chr17:80105786

Pathogenic

Glycogen storage disease, type II

Criteria Provided
Single Submitter

CA401362172

rs_2510350392

1 SubmittersRCV003054939

NM_000152.5(GAA):c.1571A>C (p.Asn524Thr)

SNV
Germline

Chr17:80110960

Conflicting classifications of pathogenicity

Condition: not provided
Glycogen storage disease, type II

Criteria Provided
Conflicting Classifications

CA401367221

rs_1379211438

2 SubmittersRCV003143450 RCV005099408

NM_000152.5(GAA):c.874T>C (p.Tyr292His)

SNV
Germline

Chr17:80107815

Conflicting classifications of pathogenicity

Condition: not provided
Glycogen storage disease, type II

Criteria Provided
Conflicting Classifications

CA401363862

rs_2510359237

2 SubmittersRCV003143451 RCV003609257

NM_000152.5(GAA):c.1861T>C (p.Trp621Arg)

SNV
Germline

Chr17:80112684

Conflicting classifications of pathogenicity

Condition: not provided
Glycogen storage disease, type II

Criteria Provided
Conflicting Classifications

CA401369676

rs_1327361418

3 SubmittersRCV003144096 RCV003237380

NM_000152.5(GAA):c.1441T>A (p.Trp481Arg)

SNV
Germline

Chr17:80110730

Conflicting classifications of pathogenicity

Condition: not provided
Glycogen storage disease, type II

Criteria Provided
Conflicting Classifications

CA401366772

rs_772883420

3 SubmittersRCV003144097 RCV003778883

NM_000152.5(GAA):c.1940G>A (p.Cys647Tyr)

SNV
Germline

Chr17:80112927

Conflicting classifications of pathogenicity

Condition: not provided
Glycogen storage disease, type II

Criteria Provided
Conflicting Classifications

CA401369918

rs_1265892085

2 SubmittersRCV003130956 RCV003609256

NM_000152.5(GAA):c.1552-2A>C

SNV
Germline

Chr17:80110939

Pathogenic

Condition: not provided
Glycogen storage disease, type II

Criteria Provided
Multiple Submitters
No Conflicts

CA401367172

rs_1555600846

2 SubmittersRCV003145767 RCV006473705

NM_000152.5(GAA):c.1663G>C (p.Ala555Pro)

SNV
Germline

Chr17:80112009

Likely pathogenic

Glycogen storage disease, type II

Criteria Provided
Single Submitter

CA401368873

rs_2510378539

1 SubmittersRCV003155907

NM_000152.5(GAA):c.1673G>A (p.Cys558Tyr)

SNV
Germline

Chr17:80112019

Conflicting classifications of pathogenicity

Glycogen storage disease, type II
not specified

Criteria Provided
Conflicting Classifications

CA401368933

rs_2510378592

2 SubmittersRCV003229549 RCV005406653

NM_000152.5(GAA):c.1525C>T (p.Gln509Ter)

SNV
Germline

Chr17:80110814

Likely pathogenic

Glycogen storage disease, type II

Criteria Provided
Single Submitter

CA401367107

rs_2510374041

1 SubmittersRCV003234748

NM_000152.5(GAA):c.2481+1G>T

SNV
Germline

Chr17:80117750

Likely pathogenic

Glycogen storage disease, type II

Criteria Provided
Single Submitter

CA401325551

rs_2510400033

1 SubmittersRCV003236602

NM_000152.5(GAA):c.2303C>T (p.Pro768Leu)

SNV
Germline

Chr17:80117081

Likely pathogenic

Glycogen storage disease, type II

Criteria Provided
Multiple Submitters
No Conflicts

CA401324900

rs_2510396780

2 SubmittersRCV003238171

NM_000152.5(GAA):c.2702T>A (p.Leu901Gln)

SNV
Germline

Chr17:80118708

Pathogenic

Glycogen storage disease, type II

Criteria Provided
Single Submitter

CA401326888

rs_2510404334

1 SubmittersRCV003337919

NM_000152.5(GAA):c.1466A>G (p.Asp489Gly)

SNV
Unknown

Chr17:80110755

Likely pathogenic

Glycogen storage disease, type II

Criteria Provided
Single Submitter

CA401366876

rs_2510373785

1 SubmittersRCV003391170

NM_000152.5(GAA):c.1456G>C (p.Ala486Pro)

SNV
Germline

Chr17:80110745

Likely pathogenic

Glycogen storage disease, type II

Criteria Provided
Multiple Submitters
No Conflicts

CA401366835

rs_1283045273

2 SubmittersRCV003461594

NM_000152.5(GAA):c.2799+2C>G

SNV
Unknown

Chr17:80118807

Likely pathogenic

Glycogen storage disease, type II

Criteria Provided
Single Submitter

CA401327499

rs_1555603318

1 SubmittersRCV003461595

NM_000152.5(GAA):c.2015G>T (p.Arg672Leu)

SNV
Germline

Chr17:80113002

Likely pathogenic

Glycogen storage disease, type II

Reviewed By Expert Panel

CA401370075

rs_778418246

2 SubmittersRCV003461599

NM_000152.5(GAA):c.2303C>G (p.Pro768Arg)

SNV
Germline

Chr17:80117081

Likely pathogenic

Glycogen storage disease, type II

Criteria Provided
Multiple Submitters
No Conflicts

CA401324899

rs_2510396780

2 SubmittersRCV003468225

NM_000152.5(GAA):c.323G>A (p.Cys108Tyr)

SNV
Unknown

Chr17:80104909

Likely pathogenic

Glycogen storage disease, type II

Criteria Provided
Single Submitter

CA401360744

rs_2039038796

1 SubmittersRCV003468226

NM_000152.5(GAA):c.1799G>T (p.Arg600Leu)

SNV
Germline

Chr17:80112622

Pathogenic/Likely pathogenic

Glycogen storage disease, type II
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA401369428

rs_377544304

4 SubmittersRCV003468227 RCV005645481

NM_000152.5(GAA):c.1075+1G>T

SNV
Germline

Chr17:80108410

Likely pathogenic

Glycogen storage disease, type II

Criteria Provided
Multiple Submitters
No Conflicts

CA401364842

rs_2039146031

2 SubmittersRCV003461602

NM_000152.5(GAA):c.1924G>T (p.Val642Phe)

SNV
Germline

Chr17:80112911

Likely pathogenic

Glycogen storage disease, type II

Criteria Provided
Single Submitter

CA401369892

rs_1567835613

2 SubmittersRCV003461603

NM_000152.5(GAA):c.1721T>C (p.Leu574Pro)

SNV
Germline

Chr17:80112067

Pathogenic/Likely pathogenic

Glycogen storage disease, type II

Criteria Provided
Multiple Submitters
No Conflicts

CA401369079

rs_2510378916

2 SubmittersRCV003468228

NM_000152.5(GAA):c.2332-1G>A

SNV
Unknown

Chr17:80117599

Likely pathogenic

Glycogen storage disease, type II

Criteria Provided
Single Submitter

CA401324963

rs_1555602832

1 SubmittersRCV003468229

NM_000152.5(GAA):c.1438-1G>A

SNV
Unknown

Chr17:80110726

Likely pathogenic

Glycogen storage disease, type II

Criteria Provided
Single Submitter

CA401366757

rs_147804176

1 SubmittersRCV003468230

NM_000152.5(GAA):c.2331+1G>C

SNV
Unknown

Chr17:80117110

Likely pathogenic

Glycogen storage disease, type II

Criteria Provided
Single Submitter

CA8815691

rs_780655708

1 SubmittersRCV003461605

NM_000152.5(GAA):c.1075+2T>C

SNV
Unknown

Chr17:80108411

Likely pathogenic

Glycogen storage disease, type II

Criteria Provided
Single Submitter

CA401364846

rs_2143853890

1 SubmittersRCV003461608

NM_000152.5(GAA):c.1194+2T>G

SNV
Unknown

Chr17:80108609

Likely pathogenic

Glycogen storage disease, type II

Criteria Provided
Single Submitter

CA401365145

rs_1057516215

1 SubmittersRCV003468233

NM_000152.5(GAA):c.2189+2T>A

SNV
Unknown

Chr17:80113368

Likely pathogenic

Glycogen storage disease, type II

Criteria Provided
Single Submitter

CA401370670

rs_2510386943

1 SubmittersRCV003461610

NM_000152.5(GAA):c.858+1G>A

SNV
Germline

Chr17:80107723

Likely pathogenic

Glycogen storage disease, type II

Criteria Provided
Multiple Submitters
No Conflicts

CA401363726

rs_2510358612

2 SubmittersRCV003461614

NM_000152.5(GAA):c.1636+1G>A

SNV
Germline

Chr17:80111026

Likely pathogenic

Glycogen storage disease, type II

Criteria Provided
Multiple Submitters
No Conflicts

CA401367396

rs_2143875243

2 SubmittersRCV003468235

NM_000152.5(GAA):c.1205G>A (p.Trp402Ter)

SNV
Germline

Chr17:80108707

Pathogenic/Likely pathogenic

Glycogen storage disease, type II

Criteria Provided
Multiple Submitters
No Conflicts

CA401365175

rs_2510364501

2 SubmittersRCV003461617

NM_000152.5(GAA):c.2331+1G>A

SNV
Germline

Chr17:80117110

Pathogenic

Glycogen storage disease, type II

Criteria Provided
Multiple Submitters
No Conflicts

CA401324957

rs_780655708

3 SubmittersRCV003461620

NM_000152.5(GAA):c.2331+4A>G

SNV
Unknown

Chr17:80117113

Likely pathogenic

Glycogen storage disease, type II

Criteria Provided
Single Submitter

CA658795284

rs_2039371081

1 SubmittersRCV003468238

NM_000152.5(GAA):c.1855A>G (p.Ser619Gly)

SNV
Germline

Chr17:80112678

Likely pathogenic

Glycogen storage disease, type II

Criteria Provided
Single Submitter

CA401369647

rs_2510381595

1 SubmittersRCV003502923

NM_000152.5(GAA):c.1123C>A (p.Arg375Ser)

SNV
Germline

Chr17:80108536

Likely pathogenic

Glycogen storage disease, type II

Criteria Provided
Single Submitter

CA401365001

rs_372486238

1 SubmittersRCV003502928

NM_000152.5(GAA):c.2131A>T (p.Thr711Ser)

SNV
Germline

Chr17:80113308

Likely pathogenic

Glycogen storage disease, type II

Criteria Provided
Single Submitter

CA401370554

rs_2143896492

1 SubmittersRCV003502895

NM_000152.5(GAA):c.2554G>T (p.Glu852Ter)

SNV
Germline

Chr17:80118265

Pathogenic

Glycogen storage disease, type II

Criteria Provided
Single Submitter

CA401326167

rs_2510402647

1 SubmittersRCV003503488

NM_000152.5(GAA):c.656G>A (p.Gly219Glu)

SNV
Germline

Chr17:80105858

Likely pathogenic

Glycogen storage disease, type II

Criteria Provided
Single Submitter

CA401362463

rs_2510350807

1 SubmittersRCV003502887

NM_000152.5(GAA):c.1855A>C (p.Ser619Arg)

SNV
Germline

Chr17:80112678

Pathogenic

Glycogen storage disease, type II

Criteria Provided
Single Submitter

CA401369651

rs_2510381595

1 SubmittersRCV003503510

NM_000152.5(GAA):c.2482-1G>T

SNV
Germline

Chr17:80118192

Likely pathogenic

Glycogen storage disease, type II

Criteria Provided
Single Submitter

CA401325934

rs_2510402002

1 SubmittersRCV003503564

NM_000152.5(GAA):c.1942G>T (p.Gly648Cys)

SNV
Germline

Chr17:80112929

Likely pathogenic

Glycogen storage disease, type II

Criteria Provided
Multiple Submitters
No Conflicts

CA401369923

rs_536906561

2 SubmittersRCV003503952

NM_000152.5(GAA):c.2014C>G (p.Arg672Gly)

SNV
Germline

Chr17:80113001

Likely pathogenic

Glycogen storage disease, type II

Criteria Provided
Single Submitter

CA401370073

rs_757111744

1 SubmittersRCV003504345

NM_000152.5(GAA):c.1075G>A (p.Gly359Arg)

SNV
Germline

Chr17:80108409

Pathogenic

Glycogen storage disease, type II

Criteria Provided
Single Submitter

CA401364835

rs_1064794288

1 SubmittersRCV003504314

NM_000152.5(GAA):c.925G>T (p.Gly309Trp)

SNV
Germline

Chr17:80107866

Likely pathogenic

Glycogen storage disease, type II

Criteria Provided
Single Submitter

CA401364062

rs_543300039

1 SubmittersRCV003504363

NM_000152.5(GAA):c.671G>T (p.Arg224Leu)

SNV
Germline

Chr17:80105873

Likely pathogenic

Glycogen storage disease, type II

Criteria Provided
Single Submitter

CA401362528

rs_200210219

1 SubmittersRCV003502251

NM_000152.5(GAA):c.2399G>T (p.Ser800Ile)

SNV
Germline

Chr17:80117667

Pathogenic

Glycogen storage disease, type II

Criteria Provided
Multiple Submitters
No Conflicts

CA401325096

rs_2510399260

2 SubmittersRCV003502385

NM_000152.5(GAA):c.1364A>G (p.Tyr455Cys)

SNV
Germline

Chr17:80109982

Pathogenic

Glycogen storage disease, type II

Criteria Provided
Single Submitter

CA401366388

rs_2510370057

1 SubmittersRCV003502027

NM_000152.5(GAA):c.1561G>C (p.Glu521Gln)

SNV
Germline

Chr17:80110950

Pathogenic

Glycogen storage disease, type II

Criteria Provided
Single Submitter

CA401367201

rs_121907937

1 SubmittersRCV003502028

NM_000152.5(GAA):c.1754+2T>A

SNV
Germline

Chr17:80112102

Pathogenic

Glycogen storage disease, type II

Criteria Provided
Single Submitter

CA401369200

rs_2143884018

1 SubmittersRCV003502030

NM_000152.5(GAA):c.2004C>A (p.Tyr668Ter)

SNV
Germline

Chr17:80112991

Pathogenic

Glycogen storage disease, type II

Criteria Provided
Single Submitter

CA401370054

rs_2510384208

1 SubmittersRCV003502031

NM_000152.5(GAA):c.2481+1G>A

SNV
Germline

Chr17:80117750

Likely pathogenic

Glycogen storage disease, type II

Criteria Provided
Single Submitter

CA401325549

rs_2510400033

1 SubmittersRCV003502032

NM_000152.5(GAA):c.2563G>C (p.Gly855Arg)

SNV
Germline

Chr17:80118274

Likely pathogenic

Glycogen storage disease, type II

Criteria Provided
Single Submitter

CA401326195

rs_1341804179

1 SubmittersRCV003502033

NM_000152.5(GAA):c.266G>T (p.Arg89Leu)

SNV
Germline

Chr17:80104852

Likely pathogenic

Glycogen storage disease, type II

Criteria Provided
Single Submitter

CA401360570

rs_200586324

1 SubmittersRCV003503047

NM_000152.5(GAA):c.1456G>T (p.Ala486Ser)

SNV
Germline

Chr17:80110745

Likely pathogenic

Glycogen storage disease, type II

Criteria Provided
Single Submitter

CA401366836

rs_1283045273

1 SubmittersRCV003502980

NM_000152.5(GAA):c.2109C>G (p.Tyr703Ter)

SNV
Germline

Chr17:80113286

Pathogenic/Likely pathogenic

Glycogen storage disease, type II
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA401370511

rs_150728610

2 SubmittersRCV003503962 RCV005636984

NM_000152.5(GAA):c.859-1G>C

SNV
Germline

Chr17:80107799

Likely pathogenic

Glycogen storage disease, type II
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA401363793

rs_2510359114

2 SubmittersRCV003503334 RCV005636983

NM_000152.5(GAA):c.1709A>G (p.Asn570Ser)

SNV
Germline

Chr17:80112055

Likely pathogenic

Glycogen storage disease, type II

Criteria Provided
Single Submitter

CA401369041

rs_2510378853

1 SubmittersRCV003609525

NM_000152.5(GAA):c.1583G>T (p.Gly528Val)

SNV
Germline

Chr17:80110972

Likely pathogenic

Glycogen storage disease, type II

Criteria Provided
Single Submitter

CA401367252

rs_794727016

1 SubmittersRCV003610091

NM_000152.5(GAA):c.2646+2T>G

SNV
Germline

Chr17:80118359

Likely pathogenic

Glycogen storage disease, type II

Reviewed By Expert Panel

CA401326518

rs_786204561

2 SubmittersRCV003610379

NM_000152.5(GAA):c.1846G>T (p.Asp616Tyr)

SNV
Germline

Chr17:80112669

Likely pathogenic

Glycogen storage disease, type II

Criteria Provided
Single Submitter

CA401369607

rs_796161389

1 SubmittersRCV003610416

NM_000152.5(GAA):c.1400T>C (p.Phe467Ser)

SNV
Germline

Chr17:80110018

Likely pathogenic

Glycogen storage disease, type II

Reviewed By Expert Panel

CA401366522

rs_2510370572

2 SubmittersRCV003608774

NM_000152.5(GAA):c.1697C>T (p.Ser566Phe)

SNV
Germline

Chr17:80112043

Likely pathogenic

Glycogen storage disease, type II

Criteria Provided
Single Submitter

CA401369016

rs_2039248188

1 SubmittersRCV003608812

NM_000152.5(GAA):c.1369C>T (p.Pro457Ser)

SNV
Germline

Chr17:80109987

Likely pathogenic

Glycogen storage disease, type II

Criteria Provided
Single Submitter

CA401366410

rs_2143866086

1 SubmittersRCV003609110

NM_000152.5(GAA):c.2743C>T (p.Gln915Ter)

SNV
Germline

Chr17:80118749

Pathogenic

Glycogen storage disease, type II

Criteria Provided
Single Submitter

CA401327142

rs_2510404730

1 SubmittersRCV003610544

NM_000152.5(GAA):c.2174G>T (p.Arg725Leu)

SNV
Germline

Chr17:80113351

Likely pathogenic

Glycogen storage disease, type II

Criteria Provided
Single Submitter

CA401370635

rs_577042191

1 SubmittersRCV003609065

NM_000152.5(GAA):c.1928G>C (p.Gly643Ala)

SNV
Germline

Chr17:80112915

Likely pathogenic

Glycogen storage disease, type II

Criteria Provided
Single Submitter

CA401369900

rs_2510383208

1 SubmittersRCV003609140

NM_000152.5(GAA):c.1223T>C (p.Met408Thr)

SNV
Germline

Chr17:80108725

Conflicting classifications of pathogenicity

Glycogen storage disease, type II
Condition: not provided

Criteria Provided
Conflicting Classifications

CA401365216

rs_2510364535

2 SubmittersRCV003610669 RCV005637016

NM_000152.5(GAA):c.2296T>C (p.Tyr766His)

SNV
Germline

Chr17:80117074

Likely pathogenic

Glycogen storage disease, type II

Criteria Provided
Single Submitter

CA401324883

rs_941181575

1 SubmittersRCV003610604

NM_000152.5(GAA):c.1978C>G (p.Arg660Gly)

SNV
Germline

Chr17:80112965

Likely pathogenic

Glycogen storage disease, type II

Criteria Provided
Multiple Submitters
No Conflicts

CA401369997

rs_759518659

3 SubmittersRCV003610698

NM_000152.5(GAA):c.2096T>C (p.Leu699Pro)

SNV
Germline

Chr17:80113273

Pathogenic

Glycogen storage disease, type II

Criteria Provided
Single Submitter

CA401370489

rs_1555601748

1 SubmittersRCV003610850

NM_000152.5(GAA):c.1714C>T (p.His572Tyr)

SNV
Germline

Chr17:80112060

Likely pathogenic

Glycogen storage disease, type II

Criteria Provided
Single Submitter

CA401369051

rs_2510378879

1 SubmittersRCV003610837

NM_000152.5(GAA):c.1220A>G (p.Tyr407Cys)

SNV
Germline

Chr17:80108722

Likely pathogenic

Glycogen storage disease, type II

Criteria Provided
Single Submitter

CA8815235

rs_780674083

1 SubmittersRCV003609728

NM_000152.5(GAA):c.967C>T (p.Gln323Ter)

SNV
Germline

Chr17:80108301

Pathogenic

Glycogen storage disease, type II

Criteria Provided
Single Submitter

CA401364399

rs_2510361928

1 SubmittersRCV003609760

NM_000152.5(GAA):c.692+1G>T

SNV
Germline

Chr17:80105895

Pathogenic

Glycogen storage disease, type II

Criteria Provided
Single Submitter

CA401362645

rs_773281453

1 SubmittersRCV003814116

NM_000152.5(GAA):c.1654C>T (p.Leu552Phe)

SNV
Germline

Chr17:80112000

Likely pathogenic

Glycogen storage disease, type II

Criteria Provided
Single Submitter

CA401368813

rs_144957920

1 SubmittersRCV003831427

NM_000152.5(GAA):c.1559A>T (p.Asn520Ile)

SNV
Germline

Chr17:80110948

Pathogenic

Glycogen storage disease, type II

Criteria Provided
Single Submitter

CA401367198

rs_1555600852

1 SubmittersRCV003990733

NM_000152.5(GAA):c.1703A>G (p.His568Arg)

SNV
Germline

Chr17:80112049

Pathogenic

Glycogen storage disease, type II

Criteria Provided
Single Submitter

CA401369026

rs_2143882997

1 SubmittersRCV004549032

NM_000152.5(GAA):c.1437G>C (p.Lys479Asn)

SNV
Germline

Chr17:80110055

Likely pathogenic

Glycogen storage disease, type II

Reviewed By Expert Panel

rs_796051877

2 SubmittersRCV004576628

NM_000152.5(GAA):c.546+1G>T

SNV
Germline

Chr17:80105133

Pathogenic

Glycogen storage disease, type II

Reviewed By Expert Panel

rs_2510347650

2 SubmittersRCV004576631

NM_000152.5(GAA):c.1707C>G (p.Tyr569Ter)

SNV
Unknown

Chr17:80112053

Likely pathogenic

Glycogen storage disease, type II

Criteria Provided
Single Submitter

rs_2510378832

1 SubmittersRCV004576634

NM_000152.5(GAA):c.729C>A (p.Asp243Glu)

SNV
Germline

Chr17:80107593

Likely pathogenic

Glycogen storage disease, type II

Criteria Provided
Single Submitter

1 SubmittersRCV004775591

NM_000152.5(GAA):c.1905C>G (p.Asn635Lys)

SNV
Germline

Chr17:80112892

Likely pathogenic

Glycogen storage disease, type II

Criteria Provided
Single Submitter

1 SubmittersRCV004702842

NM_000152.5(GAA):c.1913G>A (p.Gly638Glu)

SNV
Germline

Chr17:80112900

Likely pathogenic

Glycogen storage disease, type II
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV004766733 RCV005632743

NM_000152.5(GAA):c.3G>T (p.Met1Ile)

SNV
Germline

Chr17:80104589

Likely pathogenic

Glycogen storage disease, type II

Criteria Provided
Single Submitter

1 SubmittersRCV004771728

NM_000152.5(GAA):c.2799G>A (p.Lys933=)

SNV
Germline

Chr17:80118805

Pathogenic

Glycogen storage disease, type II

Criteria Provided
Single Submitter

1 SubmittersRCV004820977

NM_000152.5(GAA):c.1075+1G>A

SNV
Germline

Chr17:80108410

Likely pathogenic

Glycogen storage disease, type II

Criteria Provided
Single Submitter

1 SubmittersRCV005026141

NM_000152.5(GAA):c.2047G>T (p.Glu683Ter)

SNV
Germline

Chr17:80113224

Likely pathogenic

Glycogen storage disease, type II

Criteria Provided
Single Submitter

1 SubmittersRCV005022789

NM_000152.5(GAA):c.2326C>T (p.Gln776Ter)

SNV
Germline

Chr17:80117104

Likely pathogenic

Glycogen storage disease, type II

Criteria Provided
Single Submitter

1 SubmittersRCV005022792

NM_000152.5(GAA):c.370C>T (p.Gln124Ter)

SNV
Germline

Chr17:80104956

Likely pathogenic

Glycogen storage disease, type II

Criteria Provided
Single Submitter

1 SubmittersRCV005022782

NM_000152.5(GAA):c.1664C>T (p.Ala555Val)

SNV
Germline

Chr17:80112010

Likely pathogenic

Glycogen storage disease, type II

Criteria Provided
Single Submitter

1 SubmittersRCV005060711

NM_000152.5(GAA):c.1222A>C (p.Met408Leu)

SNV
Germline

Chr17:80108724

Likely pathogenic

Glycogen storage disease, type II

Criteria Provided
Single Submitter

1 SubmittersRCV005087877

NM_000152.5(GAA):c.1563G>T (p.Glu521Asp)

SNV
Germline

Chr17:80110952

Likely pathogenic

Glycogen storage disease, type II

Criteria Provided
Single Submitter

1 SubmittersRCV005109379

NM_000152.5(GAA):c.1934A>G (p.Asp645Gly)

SNV
Germline

Chr17:80112921

Likely pathogenic

Glycogen storage disease, type II

Criteria Provided
Single Submitter

1 SubmittersRCV005109381

NM_000152.5(GAA):c.2229G>C (p.Gln743His)

SNV
Germline

Chr17:80117007

Likely pathogenic

Glycogen storage disease, type II

Criteria Provided
Single Submitter

1 SubmittersRCV005109382

NM_000152.5(GAA):c.693-1G>A

SNV
Germline

Chr17:80107556

Likely pathogenic

Glycogen storage disease, type II
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005131112 RCV005632831

NM_000152.5(GAA):c.1588G>T (p.Glu530Ter)

SNV
Germline

Chr17:80110977

Pathogenic

Glycogen storage disease, type II

Criteria Provided
Single Submitter

1 SubmittersRCV005134552

NM_000152.5(GAA):c.1420C>T (p.Gln474Ter)

SNV
Germline

Chr17:80110038

Pathogenic

Glycogen storage disease, type II

Criteria Provided
Single Submitter

1 SubmittersRCV005124584

NM_000152.5(GAA):c.1374C>A (p.Tyr458Ter)

SNV
Germline

Chr17:80109992

Pathogenic

Glycogen storage disease, type II

Criteria Provided
Single Submitter

1 SubmittersRCV005195814

NM_000152.5(GAA):c.1331C>G (p.Pro444Arg)

SNV
Germline

Chr17:80109949

Conflicting classifications of pathogenicity

not specified
Glycogen storage disease, type II

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005239745 RCV006489416

NM_000152.5(GAA):c.1560C>G (p.Asn520Lys)

SNV
Germline

Chr17:80110949

Likely pathogenic

Glycogen storage disease, type II

Criteria Provided
Single Submitter

1 SubmittersRCV005240038

NM_000152.5(GAA):c.1645G>C (p.Gly549Arg)

SNV
Germline

Chr17:80111991

Likely pathogenic

Glycogen storage disease, type II

Reviewed By Expert Panel

3 SubmittersRCV005241163

NM_000152.5(GAA):c.1370C>A (p.Pro457His)

SNV
Germline

Chr17:80109988

Likely pathogenic

Glycogen storage disease, type II

Criteria Provided
Single Submitter

1 SubmittersRCV005408350

NM_000152.5(GAA):c.1673G>C (p.Cys558Ser)

SNV
Germline

Chr17:80112019

Likely pathogenic

Glycogen storage disease, type II

Criteria Provided
Single Submitter

1 SubmittersRCV005409224

NM_000152.5(GAA):c.1829C>T (p.Ala610Val)

SNV
Germline

Chr17:80112652

Pathogenic

Glycogen storage disease, type II

Criteria Provided
Single Submitter

1 SubmittersRCV005418760

NM_000152.5(GAA):c.819G>A (p.Trp273Ter)

SNV
Germline

Chr17:80107683

Likely pathogenic

Glycogen storage disease, type II

No Assertion Criteria Provided

1 SubmittersRCV005613736

NM_000152.5(GAA):c.1958C>T (p.Thr653Ile)

SNV
Germline

Chr17:80112945

Likely pathogenic

Glycogen storage disease, type II

Criteria Provided
Single Submitter

2 SubmittersRCV005613740

NM_000152.5(GAA):c.1447G>C (p.Gly483Arg)

SNV
Germline

Chr17:80110736

Likely pathogenic

Glycogen storage disease, type II

No Assertion Criteria Provided

1 SubmittersRCV005613763

NM_000152.5(GAA):c.2051C>G (p.Pro684Arg)

SNV
Unknown

Chr17:80113228

Likely pathogenic

Glycogen storage disease, type II

Criteria Provided
Single Submitter

1 SubmittersRCV005637695

NM_000152.5(GAA):c.2174G>C (p.Arg725Pro)

SNV
Germline

Chr17:80113351

Likely pathogenic

Glycogen storage disease, type II

Reviewed By Expert Panel

1 SubmittersRCV005645910

NM_000152.5(GAA):c.2171C>A (p.Ala724Asp)

SNV
Germline

Chr17:80113348

Likely pathogenic

Glycogen storage disease, type II

Criteria Provided
Single Submitter

1 SubmittersRCV005885758

NM_000152.5(GAA):c.2189+1G>A

SNV
Germline

Chr17:80113367

Likely pathogenic

Glycogen storage disease, type II

Criteria Provided
Single Submitter

1 SubmittersRCV005938323

NM_000152.5(GAA):c.1820G>T (p.Gly607Val)

SNV
Germline

Chr17:80112643

Likely pathogenic

Glycogen storage disease, type II

Criteria Provided
Single Submitter

1 SubmittersRCV006493665

NM_000152.5(GAA):c.1062C>G (p.Tyr354Ter)

SNV
Germline

Chr17:80108396

Pathogenic

Glycogen storage disease, type II

Criteria Provided
Single Submitter

1 SubmittersRCV006510155

NM_000152.5(GAA):c.2189+2T>C

SNV
Germline

Chr17:80113368

Likely pathogenic

Glycogen storage disease, type II

Criteria Provided
Single Submitter

1 SubmittersRCV006496611

NM_000152.5(GAA):c.1780C>A (p.Arg594Ser)

SNV
Germline

Chr17:80112603

Likely pathogenic

Glycogen storage disease, type II

Criteria Provided
Single Submitter

1 SubmittersRCV006575695

NM_000152.5(GAA):c.1598G>A (p.Cys533Tyr)

SNV
Germline

Chr17:80110987

Likely pathogenic

Glycogen storage disease, type II

Criteria Provided
Single Submitter

1 SubmittersRCV006575225

NM_000152.5(GAA):c.656G>T (p.Gly219Val)

SNV
Germline

Chr17:80105858

Likely pathogenic

Glycogen storage disease, type II

Criteria Provided
Single Submitter

1 SubmittersRCV006618619

NM_000152.5(GAA):c.1538A>C (p.Asp513Ala)

SNV
Germline

Chr17:80110827

Likely pathogenic

Glycogen storage disease, type II

Criteria Provided
Single Submitter

1 SubmittersRCV006618620

NM_000152.5(GAA):c.2006C>T (p.Pro669Leu)

SNV
Germline

Chr17:80112993

Likely pathogenic

Glycogen storage disease, type II

Criteria Provided
Single Submitter

1 SubmittersRCV006618622