Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_000642.3(AGL):c.16C>T (p.Gln6Ter)	SNV Germline	Chr1:99851058	Pathogenic/Likely pathogenic	Glycogen storage disease IIIb Glycogen storage disease type III Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA114753	rs_113994126	12 SubmittersRCV000001153 RCV000020373 RCV000675315
NM_000642.3(AGL):c.2039G>A (p.Trp680Ter)	SNV Germline	Chr1:99881329	Pathogenic/Likely pathogenic	Glycogen storage disease IIIb Glycogen storage disease type III Condition: not provided Glycogen storage disease IIIa	Criteria Provided Multiple Submitters No Conflicts	CA114755	rs_113994129	13 SubmittersRCV000001154 RCV000020375 RCV000578784 RCV005406716
NM_000642.3(AGL):c.4260-12A>G	SNV Germline	Chr1:99916398	Pathogenic/Likely pathogenic	Glycogen storage disease IIIa Glycogen storage disease IIIb Glycogen storage disease type III Condition: not provided AGL-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA114759	rs_369973784	16 SubmittersRCV000001158 RCV000001157 RCV000020379 RCV000675344 RCV003407251
NM_000642.3(AGL):c.1735+1G>T	SNV Germline	Chr1:99880047	Pathogenic/Likely pathogenic	Glycogen storage disease IIIa Glycogen storage disease type III	Criteria Provided Multiple Submitters No Conflicts	CA114760	rs_199922945	9 SubmittersRCV000001159 RCV000169137
NM_000642.3(AGL):c.4259+5G>A	SNV Germline	Chr1:99915491	Conflicting classifications of pathogenicity	Glycogen storage disease IIIb Glycogen storage disease type III Condition: not provided	Criteria Provided Conflicting Classifications	CA967362	rs_780504025	6 SubmittersRCV000001164 RCV000991301 RCV001558704
NM_000642.3(AGL):c.1222C>T (p.Arg408Ter)	SNV Germline	Chr1:99875394	Pathogenic	Glycogen storage disease IIIa Glycogen storage disease type III Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA114765	rs_113994128	9 SubmittersRCV000001165 RCV000020372 RCV001582458
NM_000642.3(AGL):c.3980G>A (p.Trp1327Ter)	SNV Germline	Chr1:99913557	Pathogenic	Glycogen storage disease IIIa Glycogen storage disease type III Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA114769	rs_267606640	14 SubmittersRCV000001167 RCV000333868 RCV000435914
NM_000642.3(AGL):c.2590C>T (p.Arg864Ter)	SNV Germline	Chr1:99884612	Pathogenic	Glycogen storage disease type III Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA341741	rs_113994130	10 SubmittersRCV000020376 RCV000723818
NM_000642.3(AGL):c.3682C>T (p.Arg1228Ter)	SNV Germline	Chr1:99902776	Pathogenic/Likely pathogenic	Glycogen storage disease type III Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA341743	rs_113994131	9 SubmittersRCV000020377 RCV000723820
NM_000642.3(AGL):c.94C>T (p.Gln32Ter)	SNV Germline	Chr1:99861514	Pathogenic/Likely pathogenic	Glycogen storage disease type III	Criteria Provided Multiple Submitters No Conflicts	CA273996	rs_786204489	5 SubmittersRCV000169156
NM_000642.3(AGL):c.100C>T (p.Arg34Ter)	SNV Germline	Chr1:99861520	Pathogenic	Glycogen storage disease type III AGL-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA273900	rs_781580050	12 SubmittersRCV000169056 RCV004745247
NM_000642.3(AGL):c.118C>T (p.Gln40Ter)	SNV Germline	Chr1:99861538	Pathogenic	Glycogen storage disease type III Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA274315	rs_771961377	7 SubmittersRCV000169437 RCV000579304
NM_000642.3(AGL):c.664+3A>G	SNV Germline	Chr1:99864592	Pathogenic/Likely pathogenic	Glycogen storage disease type III Glycogen storage disease IIIa	Criteria Provided Multiple Submitters No Conflicts	CA274226	rs_370792293	8 SubmittersRCV000169374 RCV000585987
NM_000642.3(AGL):c.2309-1G>A	SNV Germline	Chr1:99884119	Pathogenic	Glycogen storage disease type III Glycogen storage disease IIIa	Criteria Provided Multiple Submitters No Conflicts	CA273983	rs_786204481	5 SubmittersRCV000169136 RCV000587290
NM_000642.3(AGL):c.3297G>A (p.Trp1099Ter)	SNV Germline	Chr1:99896323	Pathogenic	Glycogen storage disease type III	Criteria Provided Multiple Submitters No Conflicts	CA273998	rs_786204490	3 SubmittersRCV000169157
NM_000642.3(AGL):c.3444C>G (p.Tyr1148Ter)	SNV Unknown	Chr1:99900717	Likely pathogenic	Glycogen storage disease type III	No Assertion Criteria Provided	CA274158	rs_776977863	1 SubmittersRCV000169313
NM_000642.3(AGL):c.3362+9G>A	SNV Germline	Chr1:99896397	Conflicting classifications of pathogenicity	Condition: not provided Glycogen storage disease type III	Criteria Provided Conflicting Classifications	CA242524	rs_747485058	3 SubmittersRCV000176535 RCV001088600
NM_000642.3(AGL):c.256C>T (p.Gln86Ter)	SNV Germline	Chr1:99861676	Pathogenic/Likely pathogenic	Glycogen storage disease IIIa Glycogen storage disease type III Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA275169	rs_193186112	12 SubmittersRCV000588509 RCV000177086 RCV000724625
NM_000642.3(AGL):c.611T>A (p.Leu204Ter)	SNV Unknown	Chr1:99864536	Likely pathogenic	Glycogen storage disease type III	Criteria Provided Single Submitter	CA052398	rs_794729208	1 SubmittersRCV000986381
NM_000642.3(AGL):c.1282A>G (p.Arg428Gly)	SNV Germline	Chr1:99875454	Likely pathogenic	Glycogen storage disease type III	No Assertion Criteria Provided	CA10588922	rs_886039883	1 SubmittersRCV000256391
NM_000642.3(AGL):c.2681+1G>A	SNV Germline	Chr1:99884704	Pathogenic	Condition: not provided Glycogen storage disease type III AGL-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA966854	rs_201201443	9 SubmittersRCV000724650 RCV000377764 RCV003401231
NM_000642.3(AGL):c.2607A>G (p.Gln869=)	SNV Germline	Chr1:99884629	Conflicting classifications of pathogenicity	Condition: not provided Glycogen storage disease type III	Criteria Provided Conflicting Classifications	CA966839	rs_747817359	5 SubmittersRCV000370763 RCV000823283
NM_000642.3(AGL):c.3884G>A (p.Arg1295His)	SNV Germline	Chr1:99912452	Conflicting classifications of pathogenicity	Condition: not provided Glycogen storage disease type III Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA967256	rs_140481863	8 SubmittersRCV000325436 RCV000686882 RCV004021222
NM_000642.3(AGL):c.1885G>A (p.Glu629Lys)	SNV Germline	Chr1:99880781	Conflicting classifications of pathogenicity	Condition: not provided Glycogen storage disease type III AGL-related disorder	Criteria Provided Conflicting Classifications	CA966613	rs_146041189	8 SubmittersRCV000311310 RCV001083614 RCV003910031
NM_000642.3(AGL):c.334A>G (p.Ile112Val)	SNV Germline	Chr1:99862297	Conflicting classifications of pathogenicity	Glycogen storage disease type III Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA966137	rs_147024351	11 SubmittersRCV000299112 RCV000786275 RCV002518170
NM_000642.3(AGL):c.515G>C (p.Cys172Ser)	SNV Germline	Chr1:99864440	Conflicting classifications of pathogenicity	Glycogen storage disease type III Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA966202	rs_766234642	3 SubmittersRCV000353923 RCV002519358
NM_000642.3(AGL):c.1759C>T (p.His587Tyr)	SNV Germline	Chr1:99880655	Conflicting classifications of pathogenicity	Glycogen storage disease type III Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA966587	rs_139488862	9 SubmittersRCV000335847 RCV002519359 RCV001567373
NM_000642.3(AGL):c.318C>T (p.Tyr106=)	SNV Germline	Chr1:99862281	Conflicting classifications of pathogenicity	Glycogen storage disease type III	Criteria Provided Conflicting Classifications	CA10610886	rs_376885398	3 SubmittersRCV000391390
NM_000642.3(AGL):c.609A>G (p.Lys203=)	SNV Germline	Chr1:99864534	Conflicting classifications of pathogenicity	Glycogen storage disease type III	Criteria Provided Conflicting Classifications	CA966214	rs_186709388	4 SubmittersRCV000277860
NM_000642.3(AGL):c.1065G>A (p.Thr355=)	SNV Germline	Chr1:99874793	Conflicting classifications of pathogenicity	Glycogen storage disease type III AGL-related disorder	Criteria Provided Conflicting Classifications	CA966361	rs_764914308	4 SubmittersRCV000268899 RCV003967813
NM_000642.3(AGL):c.3345A>T (p.Gly1115=)	SNV Germline	Chr1:99896371	Conflicting classifications of pathogenicity	Glycogen storage disease type III not specified	Criteria Provided Conflicting Classifications	CA967050	rs_758265909	5 SubmittersRCV000376480 RCV000610696
NM_000642.3(AGL):c.3431T>A (p.Ile1144Asn)	SNV Germline	Chr1:99900704	Conflicting classifications of pathogenicity	Glycogen storage disease type III AGL-related disorder Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA967079	rs_2230308	8 SubmittersRCV000265577 RCV003910050 RCV002261029 RCV002519360
NM_000642.3(AGL):c.82+4A>C	SNV Germline	Chr1:99851128	Conflicting classifications of pathogenicity	Glycogen storage disease type III not specified Condition: not provided Inborn genetic diseases AGL-related disorder	Criteria Provided Conflicting Classifications	CA966009	rs_765098686	8 SubmittersRCV000302697 RCV000424005 RCV000761670 RCV002518169 RCV003967812
NM_000642.3(AGL):c.1284-12A>C	SNV Germline	Chr1:99876446	Conflicting classifications of pathogenicity	Glycogen storage disease type III	Criteria Provided Conflicting Classifications	CA10611691	rs_886044918	2 SubmittersRCV000339151
NM_000642.3(AGL):c.3231G>A (p.Lys1077=)	SNV Germline	Chr1:99892579	Conflicting classifications of pathogenicity	Glycogen storage disease type III not specified	Criteria Provided Conflicting Classifications	CA967002	rs_138063386	5 SubmittersRCV000266808 RCV000615752
NM_000642.3(AGL):c.1326A>G (p.Glu442=)	SNV Germline	Chr1:99876500	Conflicting classifications of pathogenicity	Glycogen storage disease type III	Criteria Provided Conflicting Classifications	CA10611770	rs_886044919	2 SubmittersRCV000375026
NM_000642.3(AGL):c.4362T>C (p.Pro1454=)	SNV Germline	Chr1:99916612	Conflicting classifications of pathogenicity	Glycogen storage disease type III	Criteria Provided Conflicting Classifications	CA10611773	rs_886044922	2 SubmittersRCV000400990
NM_000642.3(AGL):c.22C>T (p.Arg8Ter)	SNV Germline	Chr1:99851064	Pathogenic/Likely pathogenic	Glycogen storage disease type III	Criteria Provided Multiple Submitters No Conflicts	CA16040818	rs_1057516870	6 SubmittersRCV000410062
NM_000642.3(AGL):c.104T>G (p.Leu35Ter)	SNV Germline	Chr1:99861524	Pathogenic	Glycogen storage disease type III	Criteria Provided Multiple Submitters No Conflicts	CA16040820	rs_1057516567	6 SubmittersRCV000410214
NM_000642.3(AGL):c.294-2A>T	SNV Germline	Chr1:99862255	Pathogenic/Likely pathogenic	Glycogen storage disease type III Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA16040823	rs_1057516868	9 SubmittersRCV000412181 RCV002058838
NM_000642.3(AGL):c.294-1G>C	SNV Unknown	Chr1:99862256	Likely pathogenic	Glycogen storage disease type III	Criteria Provided Single Submitter	CA966127	rs_757967016	2 SubmittersRCV000410759
NM_000642.3(AGL):c.1078C>T (p.His360Tyr)	SNV Germline	Chr1:99874806	Pathogenic/Likely pathogenic	Glycogen storage disease type III Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA966365	rs_763554006	12 SubmittersRCV000411951 RCV001092051
NM_000642.3(AGL):c.1185+1G>A	SNV Unknown	Chr1:99875257	Likely pathogenic	Glycogen storage disease type III	No Assertion Criteria Provided	CA16040829	rs_1057516948	1 SubmittersRCV000412479
NM_000642.3(AGL):c.1782C>A (p.Tyr594Ter)	SNV Unknown	Chr1:99880678	Likely pathogenic	Glycogen storage disease type III	No Assertion Criteria Provided	CA16040832	rs_1057516563	1 SubmittersRCV000410795
NM_000642.3(AGL):c.2001+2T>C	SNV Unknown	Chr1:99881179	Likely pathogenic	Glycogen storage disease type III	No Assertion Criteria Provided	CA16040833	rs_1057516708	1 SubmittersRCV000411342
NM_000642.3(AGL):c.2605C>T (p.Gln869Ter)	SNV Germline	Chr1:99884627	Pathogenic/Likely pathogenic	Glycogen storage disease type III	Criteria Provided Multiple Submitters No Conflicts	CA16040838	rs_1057516254	3 SubmittersRCV000409250
NM_000642.3(AGL):c.2681+1G>T	SNV Germline	Chr1:99884704	Pathogenic/Likely pathogenic	Glycogen storage disease type III Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA966853	rs_201201443	7 SubmittersRCV000411544 RCV002524625
NM_000642.3(AGL):c.2929C>T (p.Arg977Ter)	SNV Germline	Chr1:99891336	Pathogenic	Glycogen storage disease type III Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA16040839	rs_531425980	9 SubmittersRCV000412306 RCV003238758
NM_000642.3(AGL):c.2950-1G>A	SNV Unknown	Chr1:99891605	Likely pathogenic	Glycogen storage disease type III	Criteria Provided Single Submitter	CA16040840	rs_1057516793	2 SubmittersRCV000412447
NM_000642.3(AGL):c.3083+2T>C	SNV Unknown	Chr1:99891741	Likely pathogenic	Glycogen storage disease type III	No Assertion Criteria Provided	CA16040842	rs_1057516952	1 SubmittersRCV000409012
NM_000642.3(AGL):c.3363-1G>A	SNV Unknown	Chr1:99900635	Likely pathogenic	Glycogen storage disease type III	No Assertion Criteria Provided	CA16040843	rs_1057516513	1 SubmittersRCV000409092
NM_000642.3(AGL):c.3836+1G>A	SNV Germline	Chr1:99910848	Pathogenic	Glycogen storage disease type III Condition: not provided	Criteria Provided Single Submitter	CA967222	rs_780883601	2 SubmittersRCV000415293 RCV005256606
NM_000642.3(AGL):c.4353G>T (p.Trp1451Cys)	SNV Germline	Chr1:99916603	Pathogenic/Likely pathogenic	Glycogen storage disease type III	Criteria Provided Multiple Submitters No Conflicts	CA967423	rs_775685508	5 SubmittersRCV000415279
NM_000642.3(AGL):c.1423+1G>T	SNV Germline	Chr1:99876598	Pathogenic/Likely pathogenic	Condition: not provided Glycogen storage disease type III	Criteria Provided Multiple Submitters No Conflicts	CA16603714	rs_751952198	3 SubmittersRCV000421402 RCV002522527
NM_000642.3(AGL):c.846+14G>A	SNV Germline	Chr1:99870595	Conflicting classifications of pathogenicity	not specified Glycogen storage disease type III	Criteria Provided Conflicting Classifications	CA966277	rs_376827010	4 SubmittersRCV000440621 RCV001102149
NM_000642.3(AGL):c.1875G>T (p.Thr625=)	SNV Germline	Chr1:99880771	Conflicting classifications of pathogenicity	Condition: not provided Glycogen storage disease type III	Criteria Provided Conflicting Classifications	CA966609	rs_141944878	8 SubmittersRCV000675328 RCV001085237
NM_000642.3(AGL):c.4331A>G (p.Asn1444Ser)	SNV Germline	Chr1:99916481	Conflicting classifications of pathogenicity	Condition: not provided Glycogen storage disease type III AGL-related disorder	Criteria Provided Conflicting Classifications	CA967401	rs_143815159	7 SubmittersRCV000487628 RCV001085587 RCV003925417
NM_000642.3(AGL):c.1027C>T (p.Arg343Trp)	SNV Germline	Chr1:99874755	Likely pathogenic	Condition: not provided Glycogen storage disease type III	Criteria Provided Multiple Submitters No Conflicts	CA341343170	rs_1131691438	5 SubmittersRCV000493598 RCV000667797
NM_000642.3(AGL):c.767G>A (p.Arg256His)	SNV Germline	Chr1:99870502	Conflicting classifications of pathogenicity	not specified Glycogen storage disease type III Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA966265	rs_200180652	6 SubmittersRCV000506088 RCV000549049 RCV004023425
NM_000642.3(AGL):c.1028G>A (p.Arg343Gln)	SNV Germline	Chr1:99874756	Conflicting classifications of pathogenicity	Glycogen storage disease type III Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA966353	rs_137943515	11 SubmittersRCV000537865 RCV002527426 RCV000513969
NM_000642.3(AGL):c.1895T>C (p.Ile632Thr)	SNV Germline	Chr1:99880791	Conflicting classifications of pathogenicity	Glycogen storage disease type III Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA966616	rs_138823746	4 SubmittersRCV000559891 RCV001843528 RCV002525286
NM_000642.3(AGL):c.2930G>A (p.Arg977Gln)	SNV Germline	Chr1:99891337	Conflicting classifications of pathogenicity	Glycogen storage disease type III Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA966931	rs_147977213	4 SubmittersRCV000542111 RCV002528305
NM_000642.3(AGL):c.2941A>G (p.Ile981Val)	SNV Germline	Chr1:99891348	Conflicting classifications of pathogenicity	Glycogen storage disease type III Condition: not provided	Criteria Provided Conflicting Classifications	CA966934	rs_148981763	4 SubmittersRCV000551872 RCV001507966
NM_000642.3(AGL):c.4214A>G (p.Glu1405Gly)	SNV Germline	Chr1:99915441	Conflicting classifications of pathogenicity	Glycogen storage disease type III Condition: not provided	Criteria Provided Conflicting Classifications	CA967354	rs_28730708	5 SubmittersRCV000526533 RCV003480666
NM_000642.3(AGL):c.968G>A (p.Arg323Gln)	SNV Germline	Chr1:99874696	Conflicting classifications of pathogenicity	Glycogen storage disease type III Condition: not provided AGL-related disorder	Criteria Provided Conflicting Classifications	CA966347	rs_139399527	8 SubmittersRCV000542014 RCV001564191 RCV003960263
NM_000642.3(AGL):c.2390A>G (p.Asn797Ser)	SNV Germline	Chr1:99884201	Conflicting classifications of pathogenicity	Glycogen storage disease type III Condition: not provided AGL-related disorder	Criteria Provided Conflicting Classifications	CA966780	rs_149210307	14 SubmittersRCV000529371 RCV000585302 RCV003979944
NM_000642.3(AGL):c.1810T>G (p.Phe604Val)	SNV Germline	Chr1:99880706	Conflicting classifications of pathogenicity	Glycogen storage disease type III Condition: not provided Inborn genetic diseases AGL-related disorder	Criteria Provided Conflicting Classifications	CA966599	rs_138105395	7 SubmittersRCV000556733 RCV001509048 RCV002527670 RCV003935403
NM_000642.3(AGL):c.3652C>T (p.Arg1218Ter)	SNV Germline	Chr1:99902746	Pathogenic	Glycogen storage disease type III Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA967165	rs_771853367	7 SubmittersRCV000553978 RCV000730413
NM_000642.3(AGL):c.3668G>A (p.Gly1223Asp)	SNV Germline	Chr1:99902762	Conflicting classifications of pathogenicity	Glycogen storage disease type III	Criteria Provided Conflicting Classifications	CA967168	rs_202046937	3 SubmittersRCV000532420
NM_000642.3(AGL):c.3764A>G (p.Asn1255Ser)	SNV Germline	Chr1:99910775	Conflicting classifications of pathogenicity	Glycogen storage disease type III Condition: not provided AGL-related disorder	Criteria Provided Conflicting Classifications	CA967210	rs_138134718	5 SubmittersRCV000556035 RCV001591194 RCV003905330
NM_000642.3(AGL):c.4341A>G (p.Gln1447=)	SNV Germline	Chr1:99916491	Conflicting classifications of pathogenicity	Glycogen storage disease type III	Criteria Provided Conflicting Classifications	CA967405	rs_376486225	3 SubmittersRCV000528760
NM_000642.3(AGL):c.4459C>T (p.Arg1487Ter)	SNV Germline	Chr1:99916709	Pathogenic/Likely pathogenic	Glycogen storage disease type III Glycogen storage disease	Criteria Provided Multiple Submitters No Conflicts	CA967444	rs_12118058	8 SubmittersRCV000531434 RCV000825508
NM_000642.3(AGL):c.4347+1G>A	SNV Germline	Chr1:99916498	Pathogenic	Glycogen storage disease type III	Criteria Provided Single Submitter	CA341342376	rs_1553193463	2 SubmittersRCV000539632
NM_000642.3(AGL):c.289C>T (p.Gln97Ter)	SNV Germline	Chr1:99861709	Pathogenic	Condition: not provided Glycogen storage disease type III	Criteria Provided Multiple Submitters No Conflicts	CA341330204	rs_1553183220	4 SubmittersRCV000593952 RCV000984242
NM_000642.3(AGL):c.293+3A>G	SNV Germline	Chr1:99861716	Conflicting classifications of pathogenicity	not specified Glycogen storage disease type III Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA966104	rs_375459662	4 SubmittersRCV000611136 RCV000686891 RCV004975714
NM_000642.3(AGL):c.1082+4T>A	SNV Germline	Chr1:99874814	Conflicting classifications of pathogenicity	not specified Glycogen storage disease type III	Criteria Provided Conflicting Classifications	CA966368	rs_781204563	3 SubmittersRCV000599977 RCV001062252
NM_000642.3(AGL):c.378T>A (p.Cys126Ter)	SNV Germline	Chr1:99862341	Pathogenic/Likely pathogenic	Glycogen storage disease type III	Criteria Provided Multiple Submitters No Conflicts	CA341331715	rs_1553183359	4 SubmittersRCV000625692
NM_000642.3(AGL):c.1933A>G (p.Thr645Ala)	SNV Germline	Chr1:99881109	Conflicting classifications of pathogenicity	Glycogen storage disease type III Condition: not provided	Criteria Provided Conflicting Classifications	CA966645	rs_576969969	6 SubmittersRCV000631127 RCV004691261
NM_000642.3(AGL):c.241T>C (p.Cys81Arg)	SNV Germline	Chr1:99861661	Conflicting classifications of pathogenicity	Glycogen storage disease type III Condition: not provided	Criteria Provided Conflicting Classifications	CA966096	rs_201584227	3 SubmittersRCV000631137 RCV004791641
NM_000642.3(AGL):c.2001+5G>A	SNV Germline	Chr1:99881182	Pathogenic	Glycogen storage disease type III	Criteria Provided Single Submitter	CA658795486	rs_1553186489	1 SubmittersRCV000631129
NM_000642.3(AGL):c.4575T>A (p.Ile1525=)	SNV Germline	Chr1:99921627	Conflicting classifications of pathogenicity	Glycogen storage disease type III Condition: not provided	Criteria Provided Conflicting Classifications	CA967475	rs_372116308	6 SubmittersRCV000631169 RCV001662675
NM_000642.3(AGL):c.967C>T (p.Arg323Ter)	SNV Germline	Chr1:99874695	Pathogenic/Likely pathogenic	Glycogen storage disease type III	Criteria Provided Multiple Submitters No Conflicts	CA966346	rs_757987101	4 SubmittersRCV000631131
NM_000642.3(AGL):c.1333A>G (p.Met445Val)	SNV Germline	Chr1:99876507	Conflicting classifications of pathogenicity	Glycogen storage disease type III Condition: not provided	Criteria Provided Conflicting Classifications	CA966464	rs_140375476	3 SubmittersRCV000631151 RCV003480722
NM_000642.3(AGL):c.1437C>A (p.Tyr479Ter)	SNV Germline	Chr1:99877654	Pathogenic/Likely pathogenic	Glycogen storage disease type III	Criteria Provided Multiple Submitters No Conflicts	CA27513135	rs_140095668	4 SubmittersRCV000631125
NM_000642.3(AGL):c.3290G>A (p.Arg1097His)	SNV Germline	Chr1:99896316	Conflicting classifications of pathogenicity	Glycogen storage disease type III	Criteria Provided Conflicting Classifications	CA967043	rs_185947256	5 SubmittersRCV000631133
NM_000642.3(AGL):c.1552A>G (p.Thr518Ala)	SNV Germline	Chr1:99877769	Conflicting classifications of pathogenicity	Glycogen storage disease type III Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA966527	rs_754606378	5 SubmittersRCV000631143 RCV004025396
NM_000642.3(AGL):c.1614C>G (p.Tyr538Ter)	SNV Germline	Chr1:99879925	Pathogenic	Glycogen storage disease type III	Criteria Provided Single Submitter	CA341315359	rs_1188310172	1 SubmittersRCV000631149
NM_000642.3(AGL):c.82+1G>A	SNV Germline	Chr1:99851125	Likely pathogenic	Glycogen storage disease type III	Criteria Provided Single Submitter	CA341323909	rs_1354714214	2 SubmittersRCV000671602
NM_000642.3(AGL):c.460+1G>A	SNV Germline	Chr1:99862424	Likely pathogenic	Glycogen storage disease type III	Criteria Provided Multiple Submitters No Conflicts	CA27561461	rs_930434905	4 SubmittersRCV000665550
NM_000642.3(AGL):c.1082+1G>C	SNV Unknown	Chr1:99874811	Likely pathogenic	Glycogen storage disease type III	No Assertion Criteria Provided	CA341343834	rs_751112302	1 SubmittersRCV000669745
NM_000642.3(AGL):c.2158-2A>G	SNV Germline	Chr1:99881539	Likely pathogenic	Glycogen storage disease type III	Criteria Provided Multiple Submitters No Conflicts	CA27516448	rs_878959417	6 SubmittersRCV000673863
NM_000642.3(AGL):c.3613C>T (p.Gln1205Ter)	SNV Germline	Chr1:99902707	Pathogenic	Glycogen storage disease type III Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA967158	rs_775498547	7 SubmittersRCV000673314 RCV000675340
NM_000642.3(AGL):c.4481+1G>C	SNV Unknown	Chr1:99916732	Likely pathogenic	Glycogen storage disease type III	No Assertion Criteria Provided	CA341342675	rs_1553193529	1 SubmittersRCV000673984
NM_000642.3(AGL):c.3G>C (p.Met1Ile)	SNV Unknown	Chr1:99851045	Likely pathogenic	Glycogen storage disease type III	No Assertion Criteria Provided	CA341323353	rs_1553181400	1 SubmittersRCV000666939
NM_000642.3(AGL):c.1159C>T (p.Arg387Ter)	SNV Germline	Chr1:99875230	Pathogenic/Likely pathogenic	Glycogen storage disease type III	Criteria Provided Multiple Submitters No Conflicts	CA341344850	rs_1553185418	3 SubmittersRCV000669251
NM_000642.3(AGL):c.121G>T (p.Gly41Ter)	SNV Unknown	Chr1:99861541	Likely pathogenic	Glycogen storage disease type III	No Assertion Criteria Provided	CA341329109	rs_1553183178	1 SubmittersRCV000668290
NM_000642.3(AGL):c.2949+2T>A	SNV Germline	Chr1:99891358	Likely pathogenic	Glycogen storage disease type III	Criteria Provided Multiple Submitters No Conflicts	CA341325452	rs_750492389	3 SubmittersRCV000669661
NM_000642.3(AGL):c.3235C>T (p.Gln1079Ter)	SNV Germline	Chr1:99892583	Pathogenic	Glycogen storage disease type III	Criteria Provided Multiple Submitters No Conflicts	CA341327247	rs_1553188849	3 SubmittersRCV000666456
NM_000642.3(AGL):c.3589-1G>A	SNV Germline	Chr1:99902682	Pathogenic/Likely pathogenic	Glycogen storage disease type III	Criteria Provided Multiple Submitters No Conflicts	CA341334226	rs_1289339080	3 SubmittersRCV000665591
NM_000642.3(AGL):c.664+1G>A	SNV Germline	Chr1:99864590	Conflicting classifications of pathogenicity	Glycogen storage disease type III	Criteria Provided Conflicting Classifications	CA27563545	rs_61811105	4 SubmittersRCV000664952
NM_000642.3(AGL):c.853C>T (p.Arg285Ter)	SNV Germline	Chr1:99870764	Pathogenic	Glycogen storage disease type III	Criteria Provided Multiple Submitters No Conflicts	CA966298	rs_755747010	6 SubmittersRCV000664775
NM_000642.3(AGL):c.4348G>T (p.Glu1450Ter)	SNV Germline	Chr1:99916598	Pathogenic/Likely pathogenic	Glycogen storage disease type III	Criteria Provided Multiple Submitters No Conflicts	CA341342390	rs_1553193486	4 SubmittersRCV000674441
NM_000642.3(AGL):c.958+1G>A	SNV Germline	Chr1:99870870	Pathogenic	Glycogen storage disease type III	Criteria Provided Multiple Submitters No Conflicts	CA341341936	rs_1553184657	3 SubmittersRCV000664741
NM_000642.3(AGL):c.1612-1G>C	SNV Unknown	Chr1:99879922	Likely pathogenic	Glycogen storage disease type III	No Assertion Criteria Provided	CA341315351	rs_1327892944	1 SubmittersRCV000666059
NM_000642.3(AGL):c.1589C>G (p.Ser530Ter)	SNV Germline	Chr1:99877806	Pathogenic	Glycogen storage disease type III	Criteria Provided Multiple Submitters No Conflicts	CA341314848	rs_1553185905	4 SubmittersRCV000670429
NM_000642.3(AGL):c.4481+2T>G	SNV Unknown	Chr1:99916733	Likely pathogenic	Glycogen storage disease type III	Criteria Provided Single Submitter	CA341342679	rs_1553193530	2 SubmittersRCV000670169
NM_000642.3(AGL):c.2723T>G (p.Leu908Arg)	SNV Germline	Chr1:99888019	Conflicting classifications of pathogenicity	Glycogen storage disease type III not specified	Criteria Provided Conflicting Classifications	CA966878	rs_772347559	5 SubmittersRCV000671456 RCV004702299
NM_000642.3(AGL):c.2728C>T (p.Arg910Ter)	SNV Germline	Chr1:99888024	Pathogenic	Glycogen storage disease type III	Criteria Provided Multiple Submitters No Conflicts	CA966879	rs_773095419	7 SubmittersRCV000671084
NM_000642.3(AGL):c.3362+1G>A	SNV Germline	Chr1:99896389	Pathogenic/Likely pathogenic	Glycogen storage disease type III	Criteria Provided Multiple Submitters No Conflicts	CA341329032	rs_1553189468	4 SubmittersRCV000672877
NM_000642.3(AGL):c.2682-2A>G	SNV Unknown	Chr1:99887976	Likely pathogenic	Glycogen storage disease type III	No Assertion Criteria Provided	CA341322692	rs_1185321132	1 SubmittersRCV000671061
NM_000642.3(AGL):c.2949+2T>C	SNV Unknown	Chr1:99891358	Likely pathogenic	Glycogen storage disease type III	No Assertion Criteria Provided	CA966936	rs_750492389	1 SubmittersRCV000667321
NM_000642.3(AGL):c.2950-2A>C	SNV Germline	Chr1:99891604	Likely pathogenic	Glycogen storage disease type III	Criteria Provided Multiple Submitters No Conflicts	CA966946	rs_770438130	3 SubmittersRCV000671872
NM_000642.3(AGL):c.4189G>A (p.Ala1397Thr)	SNV Germline	Chr1:99915416	Conflicting classifications of pathogenicity	Glycogen storage disease type III	Criteria Provided Conflicting Classifications	CA967349	rs_375755924	4 SubmittersRCV000673265
NM_000642.3(AGL):c.1432G>A (p.Val478Ile)	SNV Germline	Chr1:99877649	Conflicting classifications of pathogenicity	Condition: not provided Glycogen storage disease type III Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA966501	rs_527819721	6 SubmittersRCV000675326 RCV000796907 RCV005572361
NM_000642.3(AGL):c.887T>G (p.Leu296Arg)	SNV Germline	Chr1:99870798	Conflicting classifications of pathogenicity	Glycogen storage disease type III Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA966303	rs_748142986	4 SubmittersRCV001246997 RCV004978208
NM_000642.3(AGL):c.1261A>G (p.Arg421Gly)	SNV Germline	Chr1:99875433	Conflicting classifications of pathogenicity	Glycogen storage disease type III Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA966442	rs_150637770	4 SubmittersRCV000687353 RCV005328355
NM_000642.3(AGL):c.1537A>T (p.Thr513Ser)	SNV Germline	Chr1:99877754	Conflicting classifications of pathogenicity	Glycogen storage disease type III Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA966523	rs_143987049	5 SubmittersRCV000703517 RCV003165893
NM_000642.3(AGL):c.4450G>A (p.Val1484Ile)	SNV Germline	Chr1:99916700	Conflicting classifications of pathogenicity	Glycogen storage disease type III	Criteria Provided Conflicting Classifications	CA967442	rs_75076115	3 SubmittersRCV000706770
NM_000642.3(AGL):c.2023C>T (p.Arg675Trp)	SNV Germline	Chr1:99881313	Conflicting classifications of pathogenicity	Glycogen storage disease type III	Criteria Provided Conflicting Classifications	CA966678	rs_765749454	3 SubmittersRCV000778176
NM_000642.3(AGL):c.1405C>T (p.Arg469Ter)	SNV Germline	Chr1:99876579	Pathogenic/Likely pathogenic	Glycogen storage disease type III Glycogen storage disease IIIa Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA966477	rs_766536350	4 SubmittersRCV000780820 RCV001420705 RCV003480811
NM_000642.3(AGL):c.1180G>T (p.Glu394Ter)	SNV Germline	Chr1:99875251	Pathogenic	Glycogen storage disease type III	Criteria Provided Single Submitter	CA341344948	rs_1570433686	1 SubmittersRCV000817115
NM_000642.3(AGL):c.1783C>T (p.Arg595Ter)	SNV Germline	Chr1:99880679	Pathogenic	Glycogen storage disease type III	Criteria Provided Multiple Submitters No Conflicts	CA966592	rs_765367405	6 SubmittersRCV000805441
NM_000642.3(AGL):c.2384C>A (p.Ser795Ter)	SNV Germline	Chr1:99884195	Pathogenic	Glycogen storage disease type III	Criteria Provided Single Submitter	CA341320819	rs_1206517501	1 SubmittersRCV000803309
NM_000642.3(AGL):c.2727C>G (p.Tyr909Ter)	SNV Germline	Chr1:99888023	Pathogenic	Glycogen storage disease type III	Criteria Provided Single Submitter	CA341322971	rs_1239498701	1 SubmittersRCV000819446
NM_000642.3(AGL):c.3179C>G (p.Ser1060Ter)	SNV Germline	Chr1:99892527	Pathogenic	Glycogen storage disease type III	Criteria Provided Multiple Submitters No Conflicts	CA27527921	rs_774926455	3 SubmittersRCV000818392
NM_000642.3(AGL):c.3444C>A (p.Tyr1148Ter)	SNV Germline	Chr1:99900717	Pathogenic	Glycogen storage disease type III Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA967081	rs_776977863	4 SubmittersRCV000811556 RCV004719999
NM_000642.3(AGL):c.4525C>T (p.Gln1509Ter)	SNV Germline	Chr1:99921577	Pathogenic	Glycogen storage disease type III	Criteria Provided Single Submitter	CA341343575	rs_1480850606	1 SubmittersRCV000813231
NM_000642.3(AGL):c.443G>A (p.Arg148Lys)	SNV Germline	Chr1:99862406	Conflicting classifications of pathogenicity	Glycogen storage disease type III Condition: not provided	Criteria Provided Conflicting Classifications	CA966162	rs_542885983	3 SubmittersRCV000877321 RCV005231930
NM_000642.3(AGL):c.2219A>G (p.His740Arg)	SNV Germline	Chr1:99881602	Conflicting classifications of pathogenicity	Glycogen storage disease type III Condition: not provided	Criteria Provided Conflicting Classifications	CA966718	rs_562215810	4 SubmittersRCV000902396 RCV001759666
NM_000642.3(AGL):c.344T>C (p.Val115Ala)	SNV Germline	Chr1:99862307	Conflicting classifications of pathogenicity	Glycogen storage disease type III	Criteria Provided Conflicting Classifications	CA966141	rs_567992352	4 SubmittersRCV000914495
NM_000642.3(AGL):c.2497C>A (p.Gln833Lys)	SNV Germline	Chr1:99884402	Conflicting classifications of pathogenicity	Glycogen storage disease type III Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA966802	rs_757870729	3 SubmittersRCV000923493 RCV004619454
NM_000642.3(AGL):c.2682-7T>C	SNV Germline	Chr1:99887971	Conflicting classifications of pathogenicity	Glycogen storage disease type III	Criteria Provided Conflicting Classifications	CA966868	rs_375256646	3 SubmittersRCV000952109
NM_000642.3(AGL):c.576T>G (p.Tyr192Ter)	SNV Germline	Chr1:99864501	Pathogenic	Glycogen storage disease type III	Criteria Provided Multiple Submitters No Conflicts	CA341335951	rs_1571232325	2 SubmittersRCV000986380
NM_000642.3(AGL):c.1734A>T (p.Arg578Ser)	SNV Germline	Chr1:99880045	Conflicting classifications of pathogenicity	Glycogen storage disease type III not specified	Criteria Provided Conflicting Classifications	CA341316038	rs_1570442236	2 SubmittersRCV000986382 RCV005408116
NM_000642.3(AGL):c.2083C>T (p.Gln695Ter)	SNV Germline	Chr1:99881373	Pathogenic	Glycogen storage disease type III	Criteria Provided Multiple Submitters No Conflicts	CA341318999	rs_1570445130	2 SubmittersRCV000986384
NM_000642.3(AGL):c.3492C>G (p.Tyr1164Ter)	SNV Unknown	Chr1:99900765	Pathogenic	Glycogen storage disease type III	Criteria Provided Single Submitter	CA341331829	rs_370202718	1 SubmittersRCV000986385
NM_000642.3(AGL):c.3637C>T (p.Gln1213Ter)	SNV Unknown	Chr1:99902731	Pathogenic	Glycogen storage disease type III	Criteria Provided Single Submitter	CA341334688	rs_1570487381	1 SubmittersRCV000986387
NM_000642.3(AGL):c.595C>T (p.Gln199Ter)	SNV Germline	Chr1:99864520	Pathogenic	Glycogen storage disease type III Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA966212	rs_780694207	7 SubmittersRCV001069267 RCV003480948
NM_000642.3(AGL):c.1571G>A (p.Arg524His)	SNV Germline	Chr1:99877788	Pathogenic	Glycogen storage disease type III Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA966530	rs_758182700	7 SubmittersRCV001047067 RCV003480922
NM_000642.3(AGL):c.2155C>T (p.Gln719Ter)	SNV Germline	Chr1:99881445	Pathogenic/Likely pathogenic	Glycogen storage disease type III	Criteria Provided Multiple Submitters No Conflicts	CA341319507	rs_1652018859	5 SubmittersRCV001062519
NM_000642.3(AGL):c.3184G>T (p.Ala1062Ser)	SNV Germline	Chr1:99892532	Conflicting classifications of pathogenicity	Glycogen storage disease type III Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA341326926	rs_1475224037	2 SubmittersRCV001060531 RCV005562551
NM_000642.3(AGL):c.4087A>T (p.Lys1363Ter)	SNV Germline	Chr1:99913664	Pathogenic	Glycogen storage disease type III	Criteria Provided Single Submitter	CA341340022	rs_1654912428	1 SubmittersRCV001060713
NM_000642.3(AGL):c.958+1G>T	SNV Germline	Chr1:99870870	Pathogenic	Glycogen storage disease type III	Criteria Provided Single Submitter	CA341341940	rs_1553184657	1 SubmittersRCV001047874
NM_000642.3(AGL):c.1423+1G>C	SNV Germline	Chr1:99876598	Pathogenic	Glycogen storage disease type III	Criteria Provided Multiple Submitters No Conflicts	CA966483	rs_751952198	3 SubmittersRCV001043998
NM_000642.3(AGL):c.1794A>G (p.Gly598=)	SNV Germline	Chr1:99880690	Conflicting classifications of pathogenicity	Glycogen storage disease type III	Criteria Provided Conflicting Classifications	CA419080807	rs_1651940013	2 SubmittersRCV001100241
NM_000642.3(AGL):c.*2058G>A	SNV Germline	Chr1:99923709	Conflicting classifications of pathogenicity	Glycogen storage disease type III Condition: not provided	Criteria Provided Conflicting Classifications	CA10970314	rs_12117747	3 SubmittersRCV001097026 RCV002264183
NM_000642.3(AGL):c.*2060T>C	SNV Germline	Chr1:99923711	Conflicting classifications of pathogenicity	Glycogen storage disease type III Condition: not provided	Criteria Provided Conflicting Classifications	CA27566458	rs_191429370	3 SubmittersRCV001097027 RCV002511033
NM_000642.3(AGL):c.958+12A>G	SNV Germline	Chr1:99870881	Conflicting classifications of pathogenicity	Glycogen storage disease type III	Criteria Provided Conflicting Classifications	CA524719329	rs_1227779911	2 SubmittersRCV001096731
NM_000642.3(AGL):c.1829G>A (p.Arg610Lys)	SNV Germline	Chr1:99880725	Conflicting classifications of pathogenicity	Glycogen storage disease type III Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA966601	rs_781127120	5 SubmittersRCV001214310 RCV003222258 RCV003284063
NM_000642.3(AGL):c.3465G>A (p.Trp1155Ter)	SNV Germline	Chr1:99900738	Pathogenic	Glycogen storage disease type III	Criteria Provided Single Submitter	CA341331502	rs_762547610	1 SubmittersRCV001215338
NM_000642.3(AGL):c.4043T>G (p.Leu1348Ter)	SNV Germline	Chr1:99913620	Pathogenic	Glycogen storage disease type III	Criteria Provided Single Submitter	CA341339831	rs_1654908371	1 SubmittersRCV001219265
NM_000642.3(AGL):c.907C>T (p.Gln303Ter)	SNV Germline	Chr1:99870818	Pathogenic/Likely pathogenic	Glycogen storage disease type III	Criteria Provided Multiple Submitters No Conflicts	CA966308	rs_145362161	4 SubmittersRCV001204035
NM_000642.3(AGL):c.2960G>A (p.Trp987Ter)	SNV Germline	Chr1:99891616	Pathogenic	Glycogen storage disease type III	Criteria Provided Single Submitter	CA341325597	rs_1652906180	1 SubmittersRCV001211318
NM_000642.3(AGL):c.664+2T>C	SNV Germline	Chr1:99864591	Likely pathogenic	Glycogen storage disease type III	Criteria Provided Single Submitter	CA341337273	rs_1650347038	1 SubmittersRCV001202978
NM_000642.3(AGL):c.1900-2A>G	SNV Germline	Chr1:99881074	Pathogenic	Glycogen storage disease type III	Criteria Provided Single Submitter	CA341317806	rs_1254391875	1 SubmittersRCV001207730
NM_000642.3(AGL):c.3589-3C>G	SNV Germline	Chr1:99902680	Pathogenic/Likely pathogenic	Glycogen storage disease type III	Criteria Provided Multiple Submitters No Conflicts	CA1139656257	rs_1653935585	2 SubmittersRCV001217602
NM_000642.3(AGL):c.4193G>A (p.Trp1398Ter)	SNV Germline	Chr1:99915420	Pathogenic	Glycogen storage disease type III	Criteria Provided Multiple Submitters No Conflicts	CA341341014	rs_1344484845	3 SubmittersRCV001226098
NM_000642.3(AGL):c.2799T>G (p.Tyr933Ter)	SNV Germline	Chr1:99888095	Pathogenic/Likely pathogenic	Glycogen storage disease type III	Criteria Provided Multiple Submitters No Conflicts	CA341323283	rs_767529587	4 SubmittersRCV001242186
NM_000642.3(AGL):c.1284-2A>G	SNV Germline	Chr1:99876456	Likely pathogenic	Glycogen storage disease type III	Criteria Provided Multiple Submitters No Conflicts	CA341345756	rs_1651536973	2 SubmittersRCV001244991
NM_000642.3(AGL):c.4347+1G>C	SNV Germline	Chr1:99916498	Pathogenic	Glycogen storage disease type III	Criteria Provided Single Submitter	CA341342377	rs_1553193463	1 SubmittersRCV001243974
NM_000642.3(AGL):c.4371T>G (p.Tyr1457Ter)	SNV Germline	Chr1:99916621	Pathogenic	Glycogen storage disease type III	Criteria Provided Multiple Submitters No Conflicts	CA341342440	rs_1655136943	3 SubmittersRCV001260901
NM_000642.3(AGL):c.454G>T (p.Glu152Ter)	SNV Germline	Chr1:99862417	Pathogenic/Likely pathogenic	Glycogen storage disease type III	Criteria Provided Multiple Submitters No Conflicts	CA341332967	rs_1650125542	4 SubmittersRCV001263786
NM_000642.3(AGL):c.458C>A (p.Ser153Ter)	SNV Unknown	Chr1:99862421	Likely pathogenic	Glycogen storage disease type III	Criteria Provided Single Submitter	CA341333011	rs_1650126015	1 SubmittersRCV001263787
NM_000642.3(AGL):c.516C>A (p.Cys172Ter)	SNV Unknown	Chr1:99864441	Likely pathogenic	Glycogen storage disease type III	Criteria Provided Single Submitter	CA341335285	rs_1650330685	1 SubmittersRCV001263788
NM_000642.3(AGL):c.680G>A (p.Trp227Ter)	SNV Unknown	Chr1:99870415	Likely pathogenic	Glycogen storage disease type III	Criteria Provided Single Submitter	CA341339191	rs_145929061	1 SubmittersRCV001263789
NM_000642.3(AGL):c.681G>A (p.Trp227Ter)	SNV Unknown	Chr1:99870416	Likely pathogenic	Glycogen storage disease type III	Criteria Provided Single Submitter	CA966249	rs_753914653	1 SubmittersRCV001263790
NM_000642.3(AGL):c.867G>A (p.Trp289Ter)	SNV Unknown	Chr1:99870778	Likely pathogenic	Glycogen storage disease type III	Criteria Provided Single Submitter	CA341341157	rs_1650926061	1 SubmittersRCV001264160
NM_000642.3(AGL):c.991C>T (p.Gln331Ter)	SNV Unknown	Chr1:99874719	Likely pathogenic	Glycogen storage disease type III	Criteria Provided Single Submitter	CA341343020	rs_1651353836	1 SubmittersRCV001264161
NM_000642.3(AGL):c.1038T>A (p.Cys346Ter)	SNV Unknown	Chr1:99874766	Likely pathogenic	Glycogen storage disease type III	Criteria Provided Single Submitter	CA341343225	rs_1651358664	1 SubmittersRCV001264162
NM_000642.3(AGL):c.1110C>A (p.Cys370Ter)	SNV Unknown	Chr1:99875181	Likely pathogenic	Glycogen storage disease type III	Criteria Provided Single Submitter	CA341344675	rs_1651407980	1 SubmittersRCV001264163
NM_000642.3(AGL):c.1417G>T (p.Glu473Ter)	SNV Unknown	Chr1:99876591	Likely pathogenic	Glycogen storage disease type III	Criteria Provided Single Submitter	CA341346780	rs_1651556356	1 SubmittersRCV001264164
NM_000642.3(AGL):c.1649T>G (p.Leu550Ter)	SNV Germline	Chr1:99879960	Pathogenic/Likely pathogenic	Glycogen storage disease type III	Criteria Provided Multiple Submitters No Conflicts	CA341315521	rs_1651872905	2 SubmittersRCV001264165
NM_000642.3(AGL):c.1727T>G (p.Leu576Ter)	SNV Germline	Chr1:99880038	Pathogenic/Likely pathogenic	Glycogen storage disease type III	Criteria Provided Multiple Submitters No Conflicts	CA341315973	rs_1651881949	2 SubmittersRCV001264166
NM_000642.3(AGL):c.1890T>A (p.Cys630Ter)	SNV Unknown	Chr1:99880786	Likely pathogenic	Glycogen storage disease type III	Criteria Provided Single Submitter	CA341317133	rs_1651951474	1 SubmittersRCV001264167
NM_000642.3(AGL):c.2569C>T (p.Gln857Ter)	SNV Unknown	Chr1:99884591	Likely pathogenic	Glycogen storage disease type III	Criteria Provided Single Submitter	CA341321584	rs_1652306026	1 SubmittersRCV001264287
NM_000642.3(AGL):c.2738C>A (p.Ser913Ter)	SNV Unknown	Chr1:99888034	Likely pathogenic	Glycogen storage disease type III	Criteria Provided Single Submitter	CA341323018	rs_1652583223	1 SubmittersRCV001264288
NM_000642.3(AGL):c.2894G>A (p.Trp965Ter)	SNV Germline	Chr1:99891301	Pathogenic/Likely pathogenic	Glycogen storage disease type III	Criteria Provided Multiple Submitters No Conflicts	CA341325186	rs_1652877420	3 SubmittersRCV001264289
NM_000642.3(AGL):c.3480T>A (p.Cys1160Ter)	SNV Unknown	Chr1:99900753	Likely pathogenic	Glycogen storage disease type III	Criteria Provided Single Submitter	CA341331656	rs_763652784	1 SubmittersRCV001264290
NM_000642.3(AGL):c.3718G>T (p.Gly1240Ter)	SNV Unknown	Chr1:99910729	Likely pathogenic	Glycogen storage disease type III	Criteria Provided Single Submitter	CA341337326	rs_1654687449	1 SubmittersRCV001264291
NM_000642.3(AGL):c.3793G>T (p.Glu1265Ter)	SNV Unknown	Chr1:99910804	Likely pathogenic	Glycogen storage disease type III	Criteria Provided Single Submitter	CA341337903	rs_1654695322	1 SubmittersRCV001264292
NM_000642.3(AGL):c.3835A>T (p.Arg1279Ter)	SNV Unknown	Chr1:99910846	Likely pathogenic	Glycogen storage disease type III	Criteria Provided Single Submitter	CA341338095	rs_1654701324	1 SubmittersRCV001264293
NM_000642.3(AGL):c.3895G>T (p.Glu1299Ter)	SNV Unknown	Chr1:99912463	Likely pathogenic	Glycogen storage disease type III	Criteria Provided Single Submitter	CA341338867	rs_1654817532	1 SubmittersRCV001264294
NM_000642.3(AGL):c.3899T>G (p.Leu1300Ter)	SNV Unknown	Chr1:99912467	Likely pathogenic	Glycogen storage disease type III	Criteria Provided Single Submitter	CA341338885	rs_1654818141	1 SubmittersRCV001263727
NM_000642.3(AGL):c.4275T>A (p.Cys1425Ter)	SNV Unknown	Chr1:99916425	Likely pathogenic	Glycogen storage disease type III	Criteria Provided Single Submitter	CA341342217	rs_1655117886	1 SubmittersRCV001263728
NM_000642.3(AGL):c.664+1G>C	SNV Germline	Chr1:99864590	Likely pathogenic	Glycogen storage disease type III	Criteria Provided Single Submitter	CA341337267	rs_61811105	1 SubmittersRCV001293791
NM_000642.3(AGL):c.1612-1G>A	SNV Germline	Chr1:99879922	Likely pathogenic	Glycogen storage disease type III	Criteria Provided Multiple Submitters No Conflicts	CA341315350	rs_1327892944	3 SubmittersRCV001293792
NM_000642.3(AGL):c.1788T>G (p.Tyr596Ter)	SNV Germline	Chr1:99880684	Pathogenic/Likely pathogenic	Glycogen storage disease type III	Criteria Provided Multiple Submitters No Conflicts	CA341316498	rs_777871903	2 SubmittersRCV001293785
NM_000642.3(AGL):c.1880A>G (p.Asp627Gly)	SNV Germline	Chr1:99880776	Conflicting classifications of pathogenicity	Glycogen storage disease type III	Criteria Provided Conflicting Classifications	CA966612	rs_764236940	4 SubmittersRCV001293794
NM_000642.3(AGL):c.2497C>T (p.Gln833Ter)	SNV Germline	Chr1:99884402	Pathogenic	Glycogen storage disease type III	Criteria Provided Single Submitter	CA341321252	rs_757870729	1 SubmittersRCV001293786
NM_000642.3(AGL):c.2949+5G>A	SNV Germline	Chr1:99891361	Likely pathogenic	Glycogen storage disease type III	Criteria Provided Single Submitter	CA1183933259	rs_1652885754	1 SubmittersRCV001293793
NM_000642.3(AGL):c.3214G>T (p.Glu1072Ter)	SNV Germline	Chr1:99892562	Pathogenic	Glycogen storage disease type III	Criteria Provided Single Submitter	CA967000	rs_752840373	1 SubmittersRCV001293787
NM_000642.3(AGL):c.3362G>A (p.Arg1121Lys)	SNV Germline	Chr1:99896388	Conflicting classifications of pathogenicity	Glycogen storage disease type III not specified	Criteria Provided Conflicting Classifications	CA341329023	rs_1653326843	3 SubmittersRCV001293795 RCV005408817
NM_000642.3(AGL):c.4126C>T (p.Gln1376Ter)	SNV Germline	Chr1:99913703	Pathogenic/Likely pathogenic	Glycogen storage disease type III	Criteria Provided Multiple Submitters No Conflicts	CA341340262	rs_762602838	3 SubmittersRCV001293788
NM_000642.3(AGL):c.4599G>C (p.Ter1533Tyr)	SNV Germline	Chr1:99921651	Likely pathogenic	Glycogen storage disease type III	Criteria Provided Single Submitter	CA341344101	rs_1655521504	1 SubmittersRCV001293796
NM_000642.3(AGL):c.1199T>C (p.Leu400Pro)	SNV Germline	Chr1:99875371	Conflicting classifications of pathogenicity	Glycogen storage disease type III Condition: not provided	Criteria Provided Conflicting Classifications	CA341345193	rs_1275707003	2 SubmittersRCV001351838 RCV003481088
NM_000642.3(AGL):c.2309-2A>G	SNV Germline	Chr1:99884118	Likely pathogenic	Glycogen storage disease type III	Criteria Provided Multiple Submitters No Conflicts	CA341320513	rs_1253347170	3 SubmittersRCV001377581
NM_000642.3(AGL):c.685C>T (p.Gln229Ter)	SNV Germline	Chr1:99870420	Pathogenic/Likely pathogenic	Glycogen storage disease type III	Criteria Provided Multiple Submitters No Conflicts	CA27568658	rs_971749992	2 SubmittersRCV001381294
NM_000642.3(AGL):c.955C>T (p.Gln319Ter)	SNV Germline	Chr1:99870866	Pathogenic	Glycogen storage disease type III	Criteria Provided Single Submitter	CA341341913	rs_753488821	1 SubmittersRCV001383984
NM_000642.3(AGL):c.1639C>T (p.Gln547Ter)	SNV Germline	Chr1:99879950	Pathogenic	Glycogen storage disease type III	Criteria Provided Single Submitter	CA341315476	rs_2101145154	1 SubmittersRCV001384149
NM_000642.3(AGL):c.3928G>T (p.Glu1310Ter)	SNV Germline	Chr1:99912496	Pathogenic	Glycogen storage disease type III	Criteria Provided Single Submitter	CA341339044	rs_2100854670	1 SubmittersRCV001382587
NM_000642.3(AGL):c.4027G>T (p.Glu1343Ter)	SNV Germline	Chr1:99913604	Pathogenic	Glycogen storage disease type III	Criteria Provided Single Submitter	CA341339757	rs_112795811	1 SubmittersRCV001382567
NM_000642.3(AGL):c.4115G>A (p.Trp1372Ter)	SNV Germline	Chr1:99913692	Pathogenic	Glycogen storage disease type III	Criteria Provided Multiple Submitters No Conflicts	CA341340201	rs_1183383313	2 SubmittersRCV001388625
NM_000642.3(AGL):c.4352G>A (p.Trp1451Ter)	SNV Germline	Chr1:99916602	Pathogenic	Glycogen storage disease type III	Criteria Provided Single Submitter	CA341342398	rs_1557794036	1 SubmittersRCV001382962
NM_000642.3(AGL):c.3439A>T (p.Arg1147Ter)	SNV Germline	Chr1:99900712	Likely pathogenic	Glycogen storage disease type III	Criteria Provided Single Submitter	CA341331218	rs_267606639	1 SubmittersRCV001449735
NM_000642.3(AGL):c.2681+5G>C	SNV Germline	Chr1:99884708	Pathogenic	Glycogen storage disease type III	Criteria Provided Single Submitter	CA524708350	rs_1249689678	1 SubmittersRCV001647340
NM_000642.3(AGL):c.2433+1G>A	SNV Germline	Chr1:99884245	Likely pathogenic	Glycogen storage disease type III	Criteria Provided Single Submitter	CA341321008	rs_2100768428	1 SubmittersRCV001532921
NM_000642.3(AGL):c.1736-11A>G	SNV Germline	Chr1:99880621	Pathogenic/Likely pathogenic	Glycogen storage disease type III	Criteria Provided Multiple Submitters No Conflicts	CA2499214931	rs_2101148246	2 SubmittersRCV001706916
NM_000642.3(AGL):c.3362+2T>C	SNV Germline	Chr1:99896390	Pathogenic/Likely pathogenic	Glycogen storage disease type III	Criteria Provided Multiple Submitters No Conflicts	CA341329043	rs_2100804114	4 SubmittersRCV001783293
NM_000642.3(AGL):c.1383G>A (p.Trp461Ter)	SNV Germline	Chr1:99876557	Pathogenic	Glycogen storage disease type III	Criteria Provided Single Submitter	CA341346491	rs_2101132362	1 SubmittersRCV001836685
NM_000642.3(AGL):c.3259+1G>A	SNV Germline	Chr1:99892608	Pathogenic/Likely pathogenic	Glycogen storage disease type III	Criteria Provided Multiple Submitters No Conflicts	CA341327371	rs_1394576194	4 SubmittersRCV001934271
NM_000642.3(AGL):c.3700+1G>A	SNV Germline	Chr1:99902795	Likely pathogenic	Glycogen storage disease type III	Criteria Provided Single Submitter	CA341335408	rs_2100825216	1 SubmittersRCV001969017
NM_000642.3(AGL):c.4347+1G>T	SNV Germline	Chr1:99916498	Likely pathogenic	Glycogen storage disease type III	Criteria Provided Single Submitter	CA341342378	rs_1553193463	1 SubmittersRCV001993584
NM_000642.3(AGL):c.1243A>T (p.Lys415Ter)	SNV Germline	Chr1:99875415	Pathogenic/Likely pathogenic	Glycogen storage disease type III	Criteria Provided Multiple Submitters No Conflicts	CA341345529	rs_2101128697	2 SubmittersRCV002037704
NM_000642.3(AGL):c.3484C>T (p.Gln1162Ter)	SNV Germline	Chr1:99900757	Pathogenic	Glycogen storage disease type III	Criteria Provided Single Submitter	CA341331714	rs_2100818414	1 SubmittersRCV001939392
NM_000642.3(AGL):c.2434-1G>T	SNV Germline	Chr1:99884338	Likely pathogenic	Glycogen storage disease type III	Criteria Provided Single Submitter	CA341321030	rs_2100768726	1 SubmittersRCV001998676
NM_000642.3(AGL):c.3260-2A>T	SNV Germline	Chr1:99896284	Likely pathogenic	Glycogen storage disease type III	Criteria Provided Single Submitter	CA967037	rs_775904482	1 SubmittersRCV002005688
NM_000642.3(AGL):c.2002-1G>C	SNV Germline	Chr1:99881291	Likely pathogenic	Glycogen storage disease type III	Criteria Provided Single Submitter	CA341318426	rs_2100759240	1 SubmittersRCV002016961
NM_000642.3(AGL):c.1321A>G (p.Met441Val)	SNV Germline	Chr1:99876495	Conflicting classifications of pathogenicity	Glycogen storage disease type III Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA966463	rs_753035763	2 SubmittersRCV002003041 RCV002592525
NM_000642.3(AGL):c.3083+1G>A	SNV Germline	Chr1:99891740	Likely pathogenic	Glycogen storage disease type III	Criteria Provided Single Submitter	CA341326408	rs_2100790188	1 SubmittersRCV002001065
NM_000642.3(AGL):c.4348-2A>T	SNV Germline	Chr1:99916596	Likely pathogenic	Glycogen storage disease type III	Criteria Provided Single Submitter	CA341342384	rs_1353062665	1 SubmittersRCV002018419
NM_000642.3(AGL):c.4311C>G (p.Tyr1437Ter)	SNV Germline	Chr1:99916461	Pathogenic	Glycogen storage disease type III	Criteria Provided Single Submitter	CA341342299	rs_760889909	1 SubmittersRCV001927656
NM_000642.3(AGL):c.3697G>T (p.Glu1233Ter)	SNV Germline	Chr1:99902791	Pathogenic	Glycogen storage disease type III	Criteria Provided Single Submitter	CA341335353	rs_375254875	1 SubmittersRCV001982997
NM_000642.3(AGL):c.4162-1G>A	SNV Germline	Chr1:99915388	Likely pathogenic	Glycogen storage disease type III	Criteria Provided Multiple Submitters No Conflicts	CA341340750	rs_1490339052	2 SubmittersRCV001966750
NM_000642.3(AGL):c.3374T>G (p.Leu1125Ter)	SNV Germline	Chr1:99900647	Pathogenic	Glycogen storage disease type III	Criteria Provided Single Submitter	CA341330564	rs_2100817917	1 SubmittersRCV001949617
NM_000642.3(AGL):c.613A>T (p.Lys205Ter)	SNV Germline	Chr1:99864538	Pathogenic	Glycogen storage disease type III	Criteria Provided Multiple Submitters No Conflicts	CA341336154	rs_562042076	3 SubmittersRCV001911852
NM_000642.3(AGL):c.2433+2T>C	SNV Germline	Chr1:99884246	Pathogenic	Glycogen storage disease type III	Criteria Provided Single Submitter	CA341321015	rs_2100768436	1 SubmittersRCV002249236
NM_000642.3(AGL):c.2950-1G>C	SNV Germline	Chr1:99891605	Pathogenic/Likely pathogenic	Glycogen storage disease type III	Criteria Provided Multiple Submitters No Conflicts	CA341325507	rs_1057516793	2 SubmittersRCV002249237
NM_000642.3(AGL):c.1859T>C (p.Leu620Pro)	SNV Germline	Chr1:99880755	Likely pathogenic	Glycogen storage disease type III	Criteria Provided Single Submitter	CA341316933	rs_2524644038	1 SubmittersRCV002283724
NM_000642.3(AGL):c.1083-1G>A	SNV Germline	Chr1:99875153	Pathogenic	Glycogen storage disease type III	Criteria Provided Single Submitter	CA341344617	rs_2524598786	1 SubmittersRCV002292199
NM_000642.3(AGL):c.1727T>A (p.Leu576Ter)	SNV Unknown	Chr1:99880038	Likely pathogenic	Glycogen storage disease type III	Criteria Provided Single Submitter	CA341315962	rs_1651881949	1 SubmittersRCV002306455
NM_000642.3(AGL):c.4099G>T (p.Gly1367Ter)	SNV Unknown	Chr1:99913676	Likely pathogenic	Glycogen storage disease type III	Criteria Provided Single Submitter	CA341340107	rs_2523826031	1 SubmittersRCV002309638
NM_000642.3(AGL):c.2623A>T (p.Lys875Ter)	SNV Unknown	Chr1:99884645	Likely pathogenic	Glycogen storage disease type III	Criteria Provided Single Submitter	CA341321802	rs_750932668	1 SubmittersRCV002309731
NM_000642.3(AGL):c.2692A>T (p.Arg898Ter)	SNV Unknown	Chr1:99887988	Likely pathogenic	Glycogen storage disease type III	Criteria Provided Single Submitter	CA341322756	rs_751094147	1 SubmittersRCV002309766
NM_000642.3(AGL):c.4295T>A (p.Leu1432Ter)	SNV Unknown	Chr1:99916445	Likely pathogenic	Glycogen storage disease type III	Criteria Provided Single Submitter	CA341342261	rs_2523861670	1 SubmittersRCV002309934
NM_000642.3(AGL):c.4243A>T (p.Lys1415Ter)	SNV Unknown	Chr1:99915470	Likely pathogenic	Glycogen storage disease type III	Criteria Provided Single Submitter	CA341341437	rs_1474659679	1 SubmittersRCV002307873
NM_000642.3(AGL):c.2702T>A (p.Leu901Ter)	SNV Unknown	Chr1:99887998	Likely pathogenic	Glycogen storage disease type III	Criteria Provided Single Submitter	CA341322819	rs_1557769782	1 SubmittersRCV002307945
NM_000642.3(AGL):c.338T>A (p.Leu113Ter)	SNV Unknown	Chr1:99862301	Likely pathogenic	Glycogen storage disease type III	Criteria Provided Single Submitter	CA341331016	rs_2524498281	1 SubmittersRCV002308043
NM_000642.3(AGL):c.1427C>A (p.Ser476Ter)	SNV Unknown	Chr1:99877644	Likely pathogenic	Glycogen storage disease type III	Criteria Provided Single Submitter	CA341314476	rs_2524620234	1 SubmittersRCV002308065
NM_000642.3(AGL):c.408T>A (p.Cys136Ter)	SNV Unknown	Chr1:99862371	Likely pathogenic	Glycogen storage disease type III	Criteria Provided Single Submitter	CA341332177	rs_2524499198	1 SubmittersRCV002308130
NM_000642.3(AGL):c.1907C>G (p.Ser636Ter)	SNV Germline	Chr1:99881083	Pathogenic/Likely pathogenic	Glycogen storage disease type III	Criteria Provided Multiple Submitters No Conflicts	CA341317847	rs_2524647813	3 SubmittersRCV002308221
NM_000642.3(AGL):c.3223A>T (p.Lys1075Ter)	SNV Unknown	Chr1:99892571	Likely pathogenic	Glycogen storage disease type III	Criteria Provided Single Submitter	CA341327175	rs_2524732639	1 SubmittersRCV002309099
NM_000642.3(AGL):c.1444A>T (p.Arg482Ter)	SNV Unknown	Chr1:99877661	Likely pathogenic	Glycogen storage disease type III	Criteria Provided Single Submitter	CA341314511	rs_1651659929	1 SubmittersRCV002309180
NM_000642.3(AGL):c.3790G>T (p.Gly1264Ter)	SNV Unknown	Chr1:99910801	Likely pathogenic	Glycogen storage disease type III	Criteria Provided Single Submitter	CA341337885	rs_2523798798	1 SubmittersRCV002309350
NM_000642.3(AGL):c.1536C>A (p.Tyr512Ter)	SNV Unknown	Chr1:99877753	Likely pathogenic	Glycogen storage disease type III	Criteria Provided Single Submitter	CA341314732	rs_2524621713	1 SubmittersRCV002306879
NM_000642.3(AGL):c.623G>A (p.Trp208Ter)	SNV Unknown	Chr1:99864548	Likely pathogenic	Glycogen storage disease type III	Criteria Provided Single Submitter	CA341336197	rs_772920146	1 SubmittersRCV002307063
NM_000642.3(AGL):c.2783G>A (p.Trp928Ter)	SNV Unknown	Chr1:99888079	Likely pathogenic	Glycogen storage disease type III	Criteria Provided Single Submitter	CA341323218	rs_1182488370	1 SubmittersRCV002307249
NM_000642.3(AGL):c.2109T>A (p.Cys703Ter)	SNV Unknown	Chr1:99881399	Likely pathogenic	Glycogen storage disease type III	Criteria Provided Single Submitter	CA341319200	rs_2524651965	1 SubmittersRCV002307256
NM_000642.3(AGL):c.2277C>A (p.Tyr759Ter)	SNV Unknown	Chr1:99881660	Likely pathogenic	Glycogen storage disease type III	Criteria Provided Single Submitter	CA341319997	rs_2100760610	1 SubmittersRCV002310302
NM_000642.3(AGL):c.3450T>A (p.Cys1150Ter)	SNV Unknown	Chr1:99900723	Likely pathogenic	Glycogen storage disease type III	Criteria Provided Single Submitter	CA341331349	rs_2523715235	1 SubmittersRCV002310322
NM_000642.3(AGL):c.3604G>T (p.Glu1202Ter)	SNV Unknown	Chr1:99902698	Likely pathogenic	Glycogen storage disease type III	Criteria Provided Single Submitter	CA341334319	rs_2523734375	1 SubmittersRCV002310348
NM_000642.3(AGL):c.4204G>T (p.Glu1402Ter)	SNV Unknown	Chr1:99915431	Likely pathogenic	Glycogen storage disease type III	Criteria Provided Single Submitter	CA341341139	rs_2523845915	1 SubmittersRCV002310396
NM_000642.3(AGL):c.2740G>T (p.Glu914Ter)	SNV Unknown	Chr1:99888036	Likely pathogenic	Glycogen storage disease type III	Criteria Provided Single Submitter	CA341323025	rs_2524699735	1 SubmittersRCV002308463
NM_000642.3(AGL):c.2707G>T (p.Glu903Ter)	SNV Germline	Chr1:99888003	Pathogenic	Glycogen storage disease type III	Criteria Provided Single Submitter	CA341322856	rs_2100778885	1 SubmittersRCV002638525
NM_000642.3(AGL):c.655A>G (p.Asn219Asp)	SNV Germline	Chr1:99864580	Conflicting classifications of pathogenicity	Glycogen storage disease type III	Criteria Provided Conflicting Classifications	CA341337129	rs_1332399736	2 SubmittersRCV002648184
NM_000642.3(AGL):c.2682-8A>G	SNV Germline	Chr1:99887970	Pathogenic	Glycogen storage disease type III	Criteria Provided Single Submitter	CA524708591	rs_1249051895	1 SubmittersRCV002648186
NM_000642.3(AGL):c.3299G>A (p.Gly1100Glu)	SNV Germline	Chr1:99896325	Pathogenic	Glycogen storage disease type III	Criteria Provided Single Submitter	CA341328552	rs_2524757411	1 SubmittersRCV002648188
NM_000642.3(AGL):c.4284T>G (p.Tyr1428Ter)	SNV Germline	Chr1:99916434	Pathogenic	Glycogen storage disease type III	Criteria Provided Multiple Submitters No Conflicts	CA341342237	rs_2523861493	2 SubmittersRCV002648189
NM_000642.3(AGL):c.1758T>C (p.Ser586=)	SNV Germline	Chr1:99880654	Conflicting classifications of pathogenicity	Glycogen storage disease type III	Criteria Provided Conflicting Classifications	CA419080598	rs_1402386421	2 SubmittersRCV002632835
NM_000642.3(AGL):c.1218T>G (p.Tyr406Ter)	SNV Germline	Chr1:99875390	Pathogenic	Glycogen storage disease type III	Criteria Provided Single Submitter	CA341345340	rs_200607707	1 SubmittersRCV003110674
NM_000642.3(AGL):c.1283+2T>C	SNV Germline	Chr1:99875457	Likely pathogenic	Glycogen storage disease type III	Criteria Provided Multiple Submitters No Conflicts	CA341345729	rs_2524602554	2 SubmittersRCV002584046
NM_000642.3(AGL):c.4260-2A>C	SNV Germline	Chr1:99916408	Pathogenic	Glycogen storage disease type III	Criteria Provided Single Submitter	CA341342152	rs_2523860788	1 SubmittersRCV002755089
NM_000642.3(AGL):c.3700+2T>C	SNV Germline	Chr1:99902796	Likely pathogenic	Glycogen storage disease type III	Criteria Provided Single Submitter	CA341335430	rs_2523736429	1 SubmittersRCV002814903
NM_000642.3(AGL):c.293+1G>T	SNV Germline	Chr1:99861714	Pathogenic/Likely pathogenic	Glycogen storage disease type III	Criteria Provided Multiple Submitters No Conflicts	CA341330249	rs_946922101	2 SubmittersRCV002815151
NM_000642.3(AGL):c.3084-1G>A	SNV Germline	Chr1:99892431	Likely pathogenic	Glycogen storage disease type III	Criteria Provided Multiple Submitters No Conflicts	CA341326457	rs_1440105689	2 SubmittersRCV002862966
NM_000642.3(AGL):c.2458C>T (p.Gln820Ter)	SNV Germline	Chr1:99884363	Pathogenic	Glycogen storage disease type III	Criteria Provided Single Submitter	CA341321102	rs_2524674636	1 SubmittersRCV002876521
NM_000642.3(AGL):c.3549T>G (p.Tyr1183Ter)	SNV Germline	Chr1:99900822	Pathogenic	Glycogen storage disease type III	Criteria Provided Single Submitter	CA341332589	rs_2523716613	1 SubmittersRCV002904583
NM_000642.3(AGL):c.2158-1G>T	SNV Germline	Chr1:99881540	Likely pathogenic	Glycogen storage disease type III	Criteria Provided Single Submitter	CA341319570	rs_886043990	1 SubmittersRCV003002906
NM_000642.3(AGL):c.4250T>A (p.Leu1417Ter)	SNV Germline	Chr1:99915477	Pathogenic	Glycogen storage disease type III	Criteria Provided Single Submitter	CA341341489	rs_1655047525	1 SubmittersRCV003031452
NM_000642.3(AGL):c.654C>A (p.Tyr218Ter)	SNV Germline	Chr1:99864579	Pathogenic	Glycogen storage disease type III	Criteria Provided Single Submitter	CA341337112	rs_2524518453	1 SubmittersRCV003022378
NM_000642.3(AGL):c.82+1G>T	SNV Germline	Chr1:99851125	Likely pathogenic	Glycogen storage disease type III	Criteria Provided Single Submitter	CA341323912	rs_1354714214	1 SubmittersRCV003034738
NM_000642.3(AGL):c.2681+2T>G	SNV Germline	Chr1:99884705	Pathogenic	Glycogen storage disease type III	Criteria Provided Single Submitter	CA341322197	rs_2524678291	1 SubmittersRCV003057914
NM_000642.3(AGL):c.4562C>T (p.Ser1521Leu)	SNV Germline	Chr1:99921614	Likely pathogenic	Glycogen storage disease type III	Criteria Provided Single Submitter	CA341343867	rs_2523917477	1 SubmittersRCV003233383
NM_000642.3(AGL):c.4260-1G>A	SNV Germline	Chr1:99916409	Likely pathogenic	Glycogen storage disease type III	Criteria Provided Single Submitter	CA341342155	rs_1360640311	1 SubmittersRCV003340990
NM_000642.3(AGL):c.889A>T (p.Lys297Ter)	SNV Germline	Chr1:99870800	Pathogenic	Glycogen storage disease type III	Criteria Provided Single Submitter	CA341341484	rs_2101113398	1 SubmittersRCV003444043
NM_000642.3(AGL):c.3302G>A (p.Arg1101Lys)	SNV Germline	Chr1:99896328	Likely pathogenic	Glycogen storage disease type III	Criteria Provided Single Submitter	CA341328557	rs_2524757462	1 SubmittersRCV003444044
NM_006796.3(AFG3L2):c.1714G>A (p.Ala572Thr)	SNV Germline	Chr18:12344197	Conflicting classifications of pathogenicity	Spastic ataxia 5 Glycogen storage disease type III Optic atrophy 12	Criteria Provided Conflicting Classifications	CA8896420	rs_562861748	3 SubmittersRCV003447707 RCV004527457 RCV003988116
NM_000642.3(AGL):c.2207C>A (p.Ser736Ter)	SNV Unknown	Chr1:99881590	Likely pathogenic	Glycogen storage disease type III	Criteria Provided Single Submitter	CA341319840	rs_1385878017	1 SubmittersRCV003459950
NM_000642.3(AGL):c.557C>G (p.Ser186Ter)	SNV Unknown	Chr1:99864482	Likely pathogenic	Glycogen storage disease type III	Criteria Provided Single Submitter	CA341335812	rs_2524517172	1 SubmittersRCV003459951
NM_000642.3(AGL):c.1447G>T (p.Glu483Ter)	SNV Unknown	Chr1:99877664	Likely pathogenic	Glycogen storage disease type III	Criteria Provided Single Submitter	CA341314519	rs_2524620506	1 SubmittersRCV003466141
NM_000642.3(AGL):c.3091C>T (p.Gln1031Ter)	SNV Germline	Chr1:99892439	Pathogenic/Likely pathogenic	Glycogen storage disease type III	Criteria Provided Multiple Submitters No Conflicts	CA966978	rs_539108137	2 SubmittersRCV003466156
NM_000642.3(AGL):c.4490G>A (p.Trp1497Ter)	SNV Unknown	Chr1:99921542	Pathogenic	Glycogen storage disease type III	Criteria Provided Single Submitter	CA341343381	rs_2523915699	1 SubmittersRCV003466165
NM_000642.3(AGL):c.2546+1G>T	SNV Unknown	Chr1:99884452	Pathogenic	Glycogen storage disease type III	Criteria Provided Single Submitter	CA341321465	rs_1652293307	1 SubmittersRCV003466176
NM_000642.3(AGL):c.3083+1G>T	SNV Unknown	Chr1:99891740	Likely pathogenic	Glycogen storage disease type III	Criteria Provided Single Submitter	CA341326411	rs_2100790188	1 SubmittersRCV003466180
NM_000642.3(AGL):c.1148C>G (p.Ser383Ter)	SNV Germline	Chr1:99875219	Pathogenic/Likely pathogenic	Glycogen storage disease type III	Criteria Provided Multiple Submitters No Conflicts	CA341344797	rs_1651412496	2 SubmittersRCV003459969
NM_000642.3(AGL):c.665-2A>G	SNV Unknown	Chr1:99870398	Likely pathogenic	Glycogen storage disease type III	Criteria Provided Single Submitter	CA341338999	rs_2524558233	1 SubmittersRCV003459974
NM_000642.3(AGL):c.3949+1G>C	SNV Germline	Chr1:99912518	Likely pathogenic	Glycogen storage disease type III	Criteria Provided Multiple Submitters No Conflicts	CA341339203	rs_1311320845	2 SubmittersRCV003468491
NM_000642.3(AGL):c.2812+1G>C	SNV Unknown	Chr1:99888109	Likely pathogenic	Glycogen storage disease type III	Criteria Provided Single Submitter	CA341323336	rs_2524700686	1 SubmittersRCV003468495
NM_000642.3(AGL):c.2989C>T (p.Gln997Ter)	SNV Unknown	Chr1:99891645	Likely pathogenic	Glycogen storage disease type III	Criteria Provided Single Submitter	CA341325854	rs_1185515418	1 SubmittersRCV003468529
NM_000642.3(AGL):c.83-2A>G	SNV Unknown	Chr1:99861501	Likely pathogenic	Glycogen storage disease type III	Criteria Provided Single Submitter	CA341328798	rs_2524490940	1 SubmittersRCV003475729
NM_000642.3(AGL):c.3701-2A>G	SNV Unknown	Chr1:99910710	Likely pathogenic	Glycogen storage disease type III	Criteria Provided Single Submitter	CA341337114	rs_767074769	1 SubmittersRCV003475745
NM_000642.3(AGL):c.1284-1G>A	SNV Unknown	Chr1:99876457	Likely pathogenic	Glycogen storage disease type III	Criteria Provided Single Submitter	CA341345764	rs_1651537100	1 SubmittersRCV003475746
NM_000642.3(AGL):c.743G>A (p.Trp248Ter)	SNV Unknown	Chr1:99870478	Likely pathogenic	Glycogen storage disease type III	Criteria Provided Single Submitter	CA341339675	rs_2524559110	1 SubmittersRCV003475779
NM_000642.3(AGL):c.3972T>G (p.Tyr1324Ter)	SNV Unknown	Chr1:99913549	Likely pathogenic	Glycogen storage disease type III	Criteria Provided Single Submitter	CA341339422	rs_768746665	1 SubmittersRCV003475792
NM_000642.3(AGL):c.1423+1G>A	SNV Unknown	Chr1:99876598	Pathogenic	Glycogen storage disease type III	Criteria Provided Single Submitter	CA341346839	rs_751952198	1 SubmittersRCV003475796
NM_000642.3(AGL):c.958+1G>C	SNV Unknown	Chr1:99870870	Likely pathogenic	Glycogen storage disease type III	Criteria Provided Single Submitter	CA341341938	rs_1553184657	1 SubmittersRCV003475803
NM_000642.3(AGL):c.538G>T (p.Glu180Ter)	SNV Unknown	Chr1:99864463	Likely pathogenic	Glycogen storage disease type III	Criteria Provided Single Submitter	CA341335596	rs_2524517066	1 SubmittersRCV003468615
NM_000642.3(AGL):c.1517G>A (p.Trp506Ter)	SNV Unknown	Chr1:99877734	Likely pathogenic	Glycogen storage disease type III	Criteria Provided Single Submitter	CA341314687	rs_2524621430	1 SubmittersRCV003468644
NM_000642.3(AGL):c.3259+1G>C	SNV Unknown	Chr1:99892608	Likely pathogenic	Glycogen storage disease type III	Criteria Provided Single Submitter	CA341327373	rs_1394576194	1 SubmittersRCV003468650
NM_000642.3(AGL):c.1637T>A (p.Leu546Ter)	SNV Germline	Chr1:99879948	Pathogenic/Likely pathogenic	Glycogen storage disease type III	Criteria Provided Multiple Submitters No Conflicts	CA341315464	rs_2524635932	2 SubmittersRCV003468659
NM_000642.3(AGL):c.82+1G>C	SNV Germline	Chr1:99851125	Likely pathogenic	Glycogen storage disease type III	Criteria Provided Single Submitter	CA341323915	rs_1354714214	1 SubmittersRCV003517935
NM_000642.3(AGL):c.1611+2T>G	SNV Germline	Chr1:99877830	Likely pathogenic	Glycogen storage disease type III	Criteria Provided Single Submitter	CA341314898	rs_2524622671	1 SubmittersRCV003518552
NM_000642.3(AGL):c.643G>A (p.Asp215Asn)	SNV Germline	Chr1:99864568	Likely pathogenic	Glycogen storage disease type III	Criteria Provided Single Submitter	CA341336278	rs_2524518337	1 SubmittersRCV003518731
NM_000642.3(AGL):c.2546+1G>A	SNV Germline	Chr1:99884452	Pathogenic	Glycogen storage disease type III	Criteria Provided Single Submitter	CA341321461	rs_1652293307	1 SubmittersRCV003518733
NM_000642.3(AGL):c.3588+1G>A	SNV Germline	Chr1:99900862	Pathogenic	Glycogen storage disease type III	Criteria Provided Single Submitter	CA341333069	rs_1397237820	1 SubmittersRCV003518735
NM_000642.3(AGL):c.4161+5G>A	SNV Germline	Chr1:99913743	Pathogenic	Glycogen storage disease type III	Criteria Provided Single Submitter	CA2586967107	rs_1293110437	1 SubmittersRCV003518736
NM_000642.3(AGL):c.4260-1G>T	SNV Germline	Chr1:99916409	Pathogenic	Glycogen storage disease type III	Criteria Provided Single Submitter	CA341342157	rs_1360640311	1 SubmittersRCV003518737
NM_000642.3(AGL):c.82+2T>G	SNV Germline	Chr1:99851126	Likely pathogenic	Glycogen storage disease type III	Criteria Provided Single Submitter	CA341323924	rs_2524407451	1 SubmittersRCV003516818
NM_000642.3(AGL):c.2001+1G>T	SNV Germline	Chr1:99881178	Likely pathogenic	Glycogen storage disease type III	Criteria Provided Single Submitter	CA341318372	rs_2524649123	1 SubmittersRCV003517004
NM_000642.3(AGL):c.4162-2A>T	SNV Germline	Chr1:99915387	Likely pathogenic	Glycogen storage disease type III	Criteria Provided Single Submitter	CA341340748	rs_1570514784	1 SubmittersRCV003517831
NM_000642.3(AGL):c.4116G>A (p.Trp1372Ter)	SNV Germline	Chr1:99913693	Pathogenic	Glycogen storage disease type III	Criteria Provided Single Submitter	CA341340208	rs_2523826385	1 SubmittersRCV003517835
NM_000642.3(AGL):c.2157+1G>T	SNV Germline	Chr1:99881448	Pathogenic	Glycogen storage disease type III	Criteria Provided Single Submitter	CA341319533	rs_2524652589	1 SubmittersRCV003517711
NM_000642.3(AGL):c.388C>T (p.Gln130Ter)	SNV Germline	Chr1:99862351	Pathogenic	Glycogen storage disease type III	Criteria Provided Single Submitter	CA341331824	rs_1223038627	1 SubmittersRCV003633963
NM_000642.3(AGL):c.3003C>A (p.Tyr1001Ter)	SNV Germline	Chr1:99891659	Pathogenic	Glycogen storage disease type III	Criteria Provided Single Submitter	CA341325955	rs_2524724346	1 SubmittersRCV003634738
NM_000642.3(AGL):c.3871A>T (p.Lys1291Ter)	SNV Germline	Chr1:99912439	Pathogenic	Glycogen storage disease type III	Criteria Provided Single Submitter	CA341338755	rs_2523812274	1 SubmittersRCV003634951
NM_000642.3(AGL):c.3470G>A (p.Trp1157Ter)	SNV Germline	Chr1:99900743	Pathogenic	Glycogen storage disease type III	Criteria Provided Single Submitter	CA341331571	rs_2523715511	1 SubmittersRCV003635061
NM_000642.3(AGL):c.2221C>T (p.Gln741Ter)	SNV Germline	Chr1:99881604	Pathogenic	Glycogen storage disease type III	Criteria Provided Single Submitter	CA341319880	rs_2524654201	1 SubmittersRCV003635216
NM_000642.3(AGL):c.4339C>T (p.Gln1447Ter)	SNV Germline	Chr1:99916489	Pathogenic	Glycogen storage disease type III	Criteria Provided Single Submitter	CA341342360	rs_1655124681	1 SubmittersRCV003635324
NM_000642.3(AGL):c.1183C>T (p.Gln395Ter)	SNV Germline	Chr1:99875254	Pathogenic	Glycogen storage disease type III	Criteria Provided Single Submitter	CA341344961	rs_2524600117	1 SubmittersRCV003634292
NM_000642.3(AGL):c.2308+2T>A	SNV Germline	Chr1:99881693	Likely pathogenic	Glycogen storage disease type III	Criteria Provided Single Submitter	CA341320074	rs_1652044207	1 SubmittersRCV003852541
NM_000642.3(AGL):c.808G>T (p.Gly270Ter)	SNV Germline	Chr1:99870543	Pathogenic/Likely pathogenic	Glycogen storage disease type III	Criteria Provided Multiple Submitters No Conflicts	CA341340235	rs_1650900557	2 SubmittersRCV003864827
NM_000642.3(AGL):c.1972A>T (p.Arg658Ter)	SNV Germline	Chr1:99881148	Pathogenic	Glycogen storage disease type III	Criteria Provided Single Submitter	CA341318203	rs_1173312923	1 SubmittersRCV003882543
NM_006796.3(AFG3L2):c.1586C>T (p.Ala529Val)	SNV Germline	Chr18:12348350	Likely pathogenic	Glycogen storage disease type III	Criteria Provided Single Submitter	CA401951510	rs_1438358338	1 SubmittersRCV003990619
NM_000642.3(AGL):c.1788T>A (p.Tyr596Ter)	SNV Germline	Chr1:99880684	Pathogenic	Glycogen storage disease type III	Criteria Provided Single Submitter	CA341316501	rs_777871903	1 SubmittersRCV004555734
NM_000642.3(AGL):c.2493T>A (p.Tyr831Ter)	SNV Germline	Chr1:99884398	Likely pathogenic	Glycogen storage disease type III	Criteria Provided Single Submitter		rs_2524675114	1 SubmittersRCV004576139
NM_000642.3(AGL):c.1427C>G (p.Ser476Ter)	SNV Unknown	Chr1:99877644	Likely pathogenic	Glycogen storage disease type III	Criteria Provided Single Submitter		rs_2524620234	1 SubmittersRCV004575622
NM_000642.3(AGL):c.3136C>T (p.Gln1046Ter)	SNV Unknown	Chr1:99892484	Likely pathogenic	Glycogen storage disease type III	Criteria Provided Single Submitter		rs_2524731432	1 SubmittersRCV004575633
NM_000642.3(AGL):c.1177C>T (p.Gln393Ter)	SNV Unknown	Chr1:99875248	Pathogenic	Glycogen storage disease type III	Criteria Provided Single Submitter		rs_2524600033	1 SubmittersRCV004575666
NM_000642.3(AGL):c.458C>G (p.Ser153Ter)	SNV Germline	Chr1:99862421	Pathogenic	Glycogen storage disease type III	Criteria Provided Single Submitter			1 SubmittersRCV004783400
NM_000642.3(AGL):c.4481+1G>T	SNV Germline	Chr1:99916732	Pathogenic	Glycogen storage disease type III	Criteria Provided Single Submitter			1 SubmittersRCV005125256
NM_000642.3(AGL):c.3018C>G (p.Tyr1006Ter)	SNV Germline	Chr1:99891674	Pathogenic	Glycogen storage disease type III	Criteria Provided Single Submitter			1 SubmittersRCV005123076
NM_000642.3(AGL):c.958+2T>C	SNV Germline	Chr1:99870871	Likely pathogenic	Glycogen storage disease type III	Criteria Provided Single Submitter			1 SubmittersRCV005120936
NM_000642.3(AGL):c.4125T>A (p.Tyr1375Ter)	SNV Germline	Chr1:99913702	Pathogenic	Glycogen storage disease type III	Criteria Provided Single Submitter			1 SubmittersRCV005128155
NM_000642.3(AGL):c.488T>A (p.Leu163Ter)	SNV Germline	Chr1:99864413	Pathogenic	Glycogen storage disease type III	Criteria Provided Single Submitter			1 SubmittersRCV005134215
NM_000642.3(AGL):c.40G>T (p.Glu14Ter)	SNV Germline	Chr1:99851082	Pathogenic	Glycogen storage disease type III	Criteria Provided Single Submitter			1 SubmittersRCV005137338
NM_000642.3(AGL):c.2320G>T (p.Glu774Ter)	SNV Germline	Chr1:99884131	Pathogenic	Glycogen storage disease type III	Criteria Provided Single Submitter			1 SubmittersRCV005141916
NM_000642.3(AGL):c.1735+1G>A	SNV Germline	Chr1:99880047	Pathogenic	Glycogen storage disease type III	Criteria Provided Single Submitter			1 SubmittersRCV005198039
NM_000642.3(AGL):c.4259+2T>C	SNV Germline	Chr1:99915488	Likely pathogenic	Glycogen storage disease type III	Criteria Provided Single Submitter			1 SubmittersRCV005238573
NM_000642.3(AGL):c.1119G>A (p.Trp373Ter)	SNV Germline	Chr1:99875190	Likely pathogenic	Glycogen storage disease type III	Criteria Provided Single Submitter			1 SubmittersRCV005360201
NM_000642.3(AGL):c.3351T>G (p.Tyr1117Ter)	SNV Germline	Chr1:99896377	Likely pathogenic	Glycogen storage disease type III	Criteria Provided Single Submitter			1 SubmittersRCV005410094
NM_000642.3(AGL):c.259C>T (p.Gln87Ter)	SNV Germline	Chr1:99861679	Likely pathogenic	Glycogen storage disease type III	Criteria Provided Single Submitter			1 SubmittersRCV005410389
NM_000642.3(AGL):c.1274T>A (p.Leu425Ter)	SNV Germline	Chr1:99875446	Likely pathogenic	Glycogen storage disease type III	Criteria Provided Single Submitter			1 SubmittersRCV005410390
NM_000642.3(AGL):c.2157+1G>A	SNV Germline	Chr1:99881448	Likely pathogenic	Glycogen storage disease type III	Criteria Provided Single Submitter			1 SubmittersRCV005417377
NM_000642.3(AGL):c.4037C>A (p.Ser1346Ter)	SNV Germline	Chr1:99913614	Likely pathogenic	Glycogen storage disease type III	No Assertion Criteria Provided			1 SubmittersRCV005619618

NM_000642.3(AGL):c.16C>T (p.Gln6Ter)

SNV
Germline

Chr1:99851058

Pathogenic/Likely pathogenic

Glycogen storage disease IIIb
Glycogen storage disease type III
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA114753

rs_113994126

12 SubmittersRCV000001153 RCV000020373 RCV000675315

NM_000642.3(AGL):c.2039G>A (p.Trp680Ter)

SNV
Germline

Chr1:99881329

Pathogenic/Likely pathogenic

Glycogen storage disease IIIb
Glycogen storage disease type III
Condition: not provided
Glycogen storage disease IIIa

Criteria Provided
Multiple Submitters
No Conflicts

CA114755

rs_113994129

13 SubmittersRCV000001154 RCV000020375 RCV000578784 RCV005406716

NM_000642.3(AGL):c.4260-12A>G

SNV
Germline

Chr1:99916398

Pathogenic/Likely pathogenic

Glycogen storage disease IIIa
Glycogen storage disease IIIb
Glycogen storage disease type III
Condition: not provided
AGL-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA114759

rs_369973784

16 SubmittersRCV000001158 RCV000001157 RCV000020379 RCV000675344 RCV003407251

NM_000642.3(AGL):c.1735+1G>T

SNV
Germline

Chr1:99880047

Pathogenic/Likely pathogenic

Glycogen storage disease IIIa
Glycogen storage disease type III

Criteria Provided
Multiple Submitters
No Conflicts

CA114760

rs_199922945

9 SubmittersRCV000001159 RCV000169137

NM_000642.3(AGL):c.4259+5G>A

SNV
Germline

Chr1:99915491

Conflicting classifications of pathogenicity

Glycogen storage disease IIIb
Glycogen storage disease type III
Condition: not provided

Criteria Provided
Conflicting Classifications

CA967362

rs_780504025

6 SubmittersRCV000001164 RCV000991301 RCV001558704

NM_000642.3(AGL):c.1222C>T (p.Arg408Ter)

SNV
Germline

Chr1:99875394

Pathogenic

Glycogen storage disease IIIa
Glycogen storage disease type III
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA114765

rs_113994128

9 SubmittersRCV000001165 RCV000020372 RCV001582458

NM_000642.3(AGL):c.3980G>A (p.Trp1327Ter)

SNV
Germline

Chr1:99913557

Pathogenic

Glycogen storage disease IIIa
Glycogen storage disease type III
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA114769

rs_267606640

14 SubmittersRCV000001167 RCV000333868 RCV000435914

NM_000642.3(AGL):c.2590C>T (p.Arg864Ter)

SNV
Germline

Chr1:99884612

Pathogenic

Glycogen storage disease type III
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA341741

rs_113994130

10 SubmittersRCV000020376 RCV000723818

NM_000642.3(AGL):c.3682C>T (p.Arg1228Ter)

SNV
Germline

Chr1:99902776

Pathogenic/Likely pathogenic

Glycogen storage disease type III
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA341743

rs_113994131

9 SubmittersRCV000020377 RCV000723820

NM_000642.3(AGL):c.94C>T (p.Gln32Ter)

SNV
Germline

Chr1:99861514

Pathogenic/Likely pathogenic

Glycogen storage disease type III

Criteria Provided
Multiple Submitters
No Conflicts

CA273996

rs_786204489

5 SubmittersRCV000169156

NM_000642.3(AGL):c.100C>T (p.Arg34Ter)

SNV
Germline

Chr1:99861520

Pathogenic

Glycogen storage disease type III
AGL-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA273900

rs_781580050

12 SubmittersRCV000169056 RCV004745247

NM_000642.3(AGL):c.118C>T (p.Gln40Ter)

SNV
Germline

Chr1:99861538

Pathogenic

Glycogen storage disease type III
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA274315

rs_771961377

7 SubmittersRCV000169437 RCV000579304

NM_000642.3(AGL):c.664+3A>G

SNV
Germline

Chr1:99864592

Pathogenic/Likely pathogenic

Glycogen storage disease type III
Glycogen storage disease IIIa

Criteria Provided
Multiple Submitters
No Conflicts

CA274226

rs_370792293

8 SubmittersRCV000169374 RCV000585987

NM_000642.3(AGL):c.2309-1G>A

SNV
Germline

Chr1:99884119

Pathogenic

Glycogen storage disease type III
Glycogen storage disease IIIa

Criteria Provided
Multiple Submitters
No Conflicts

CA273983

rs_786204481

5 SubmittersRCV000169136 RCV000587290

NM_000642.3(AGL):c.3297G>A (p.Trp1099Ter)

SNV
Germline

Chr1:99896323

Pathogenic

Glycogen storage disease type III

Criteria Provided
Multiple Submitters
No Conflicts

CA273998

rs_786204490

3 SubmittersRCV000169157

NM_000642.3(AGL):c.3444C>G (p.Tyr1148Ter)

SNV
Unknown

Chr1:99900717

Likely pathogenic

Glycogen storage disease type III

No Assertion Criteria Provided

CA274158

rs_776977863

1 SubmittersRCV000169313

NM_000642.3(AGL):c.3362+9G>A

SNV
Germline

Chr1:99896397

Conflicting classifications of pathogenicity

Condition: not provided
Glycogen storage disease type III

Criteria Provided
Conflicting Classifications

CA242524

rs_747485058

3 SubmittersRCV000176535 RCV001088600

NM_000642.3(AGL):c.256C>T (p.Gln86Ter)

SNV
Germline

Chr1:99861676

Pathogenic/Likely pathogenic

Glycogen storage disease IIIa
Glycogen storage disease type III
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA275169

rs_193186112

12 SubmittersRCV000588509 RCV000177086 RCV000724625

NM_000642.3(AGL):c.611T>A (p.Leu204Ter)

SNV
Unknown

Chr1:99864536

Likely pathogenic

Glycogen storage disease type III

Criteria Provided
Single Submitter

CA052398

rs_794729208

1 SubmittersRCV000986381

NM_000642.3(AGL):c.1282A>G (p.Arg428Gly)

SNV
Germline

Chr1:99875454

Likely pathogenic

Glycogen storage disease type III

No Assertion Criteria Provided

CA10588922

rs_886039883

1 SubmittersRCV000256391

NM_000642.3(AGL):c.2681+1G>A

SNV
Germline

Chr1:99884704

Pathogenic

Condition: not provided
Glycogen storage disease type III
AGL-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA966854

rs_201201443

9 SubmittersRCV000724650 RCV000377764 RCV003401231

NM_000642.3(AGL):c.2607A>G (p.Gln869=)

SNV
Germline

Chr1:99884629

Conflicting classifications of pathogenicity

Condition: not provided
Glycogen storage disease type III

Criteria Provided
Conflicting Classifications

CA966839

rs_747817359

5 SubmittersRCV000370763 RCV000823283

NM_000642.3(AGL):c.3884G>A (p.Arg1295His)

SNV
Germline

Chr1:99912452

Conflicting classifications of pathogenicity

Condition: not provided
Glycogen storage disease type III
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA967256

rs_140481863

8 SubmittersRCV000325436 RCV000686882 RCV004021222

NM_000642.3(AGL):c.1885G>A (p.Glu629Lys)

SNV
Germline

Chr1:99880781

Conflicting classifications of pathogenicity

Condition: not provided
Glycogen storage disease type III
AGL-related disorder

Criteria Provided
Conflicting Classifications

CA966613

rs_146041189

8 SubmittersRCV000311310 RCV001083614 RCV003910031

NM_000642.3(AGL):c.334A>G (p.Ile112Val)

SNV
Germline

Chr1:99862297

Conflicting classifications of pathogenicity

Glycogen storage disease type III
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA966137

rs_147024351

11 SubmittersRCV000299112 RCV000786275 RCV002518170

NM_000642.3(AGL):c.515G>C (p.Cys172Ser)

SNV
Germline

Chr1:99864440

Conflicting classifications of pathogenicity

Glycogen storage disease type III
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA966202

rs_766234642

3 SubmittersRCV000353923 RCV002519358

NM_000642.3(AGL):c.1759C>T (p.His587Tyr)

SNV
Germline

Chr1:99880655

Conflicting classifications of pathogenicity

Glycogen storage disease type III
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA966587

rs_139488862

9 SubmittersRCV000335847 RCV002519359 RCV001567373

NM_000642.3(AGL):c.318C>T (p.Tyr106=)

SNV
Germline

Chr1:99862281

Conflicting classifications of pathogenicity

Glycogen storage disease type III

Criteria Provided
Conflicting Classifications

CA10610886

rs_376885398

3 SubmittersRCV000391390

NM_000642.3(AGL):c.609A>G (p.Lys203=)

SNV
Germline

Chr1:99864534

Conflicting classifications of pathogenicity

Glycogen storage disease type III

Criteria Provided
Conflicting Classifications

CA966214

rs_186709388

4 SubmittersRCV000277860

NM_000642.3(AGL):c.1065G>A (p.Thr355=)

SNV
Germline

Chr1:99874793

Conflicting classifications of pathogenicity

Glycogen storage disease type III
AGL-related disorder

Criteria Provided
Conflicting Classifications

CA966361

rs_764914308

4 SubmittersRCV000268899 RCV003967813

NM_000642.3(AGL):c.3345A>T (p.Gly1115=)

SNV
Germline

Chr1:99896371

Conflicting classifications of pathogenicity

Glycogen storage disease type III
not specified

Criteria Provided
Conflicting Classifications

CA967050

rs_758265909

5 SubmittersRCV000376480 RCV000610696

NM_000642.3(AGL):c.3431T>A (p.Ile1144Asn)

SNV
Germline

Chr1:99900704

Conflicting classifications of pathogenicity

Glycogen storage disease type III
AGL-related disorder
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA967079

rs_2230308

8 SubmittersRCV000265577 RCV003910050 RCV002261029 RCV002519360

NM_000642.3(AGL):c.82+4A>C

SNV
Germline

Chr1:99851128

Conflicting classifications of pathogenicity

Glycogen storage disease type III
not specified
Condition: not provided
Inborn genetic diseases
AGL-related disorder

Criteria Provided
Conflicting Classifications

CA966009

rs_765098686

8 SubmittersRCV000302697 RCV000424005 RCV000761670 RCV002518169 RCV003967812

NM_000642.3(AGL):c.1284-12A>C

SNV
Germline

Chr1:99876446

Conflicting classifications of pathogenicity

Glycogen storage disease type III

Criteria Provided
Conflicting Classifications

CA10611691

rs_886044918

2 SubmittersRCV000339151

NM_000642.3(AGL):c.3231G>A (p.Lys1077=)

SNV
Germline

Chr1:99892579

Conflicting classifications of pathogenicity

Glycogen storage disease type III
not specified

Criteria Provided
Conflicting Classifications

CA967002

rs_138063386

5 SubmittersRCV000266808 RCV000615752

NM_000642.3(AGL):c.1326A>G (p.Glu442=)

SNV
Germline

Chr1:99876500

Conflicting classifications of pathogenicity

Glycogen storage disease type III

Criteria Provided
Conflicting Classifications

CA10611770

rs_886044919

2 SubmittersRCV000375026

NM_000642.3(AGL):c.4362T>C (p.Pro1454=)

SNV
Germline

Chr1:99916612

Conflicting classifications of pathogenicity

Glycogen storage disease type III

Criteria Provided
Conflicting Classifications

CA10611773

rs_886044922

2 SubmittersRCV000400990

NM_000642.3(AGL):c.22C>T (p.Arg8Ter)

SNV
Germline

Chr1:99851064

Pathogenic/Likely pathogenic

Glycogen storage disease type III

Criteria Provided
Multiple Submitters
No Conflicts

CA16040818

rs_1057516870

6 SubmittersRCV000410062

NM_000642.3(AGL):c.104T>G (p.Leu35Ter)

SNV
Germline

Chr1:99861524

Pathogenic

Glycogen storage disease type III

Criteria Provided
Multiple Submitters
No Conflicts

CA16040820

rs_1057516567

6 SubmittersRCV000410214

NM_000642.3(AGL):c.294-2A>T

SNV
Germline

Chr1:99862255

Pathogenic/Likely pathogenic

Glycogen storage disease type III
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA16040823

rs_1057516868

9 SubmittersRCV000412181 RCV002058838

NM_000642.3(AGL):c.294-1G>C

SNV
Unknown

Chr1:99862256

Likely pathogenic

Glycogen storage disease type III

Criteria Provided
Single Submitter

CA966127

rs_757967016

2 SubmittersRCV000410759

NM_000642.3(AGL):c.1078C>T (p.His360Tyr)

SNV
Germline

Chr1:99874806

Pathogenic/Likely pathogenic

Glycogen storage disease type III
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA966365

rs_763554006

12 SubmittersRCV000411951 RCV001092051

NM_000642.3(AGL):c.1185+1G>A

SNV
Unknown

Chr1:99875257

Likely pathogenic

Glycogen storage disease type III

No Assertion Criteria Provided

CA16040829

rs_1057516948

1 SubmittersRCV000412479

NM_000642.3(AGL):c.1782C>A (p.Tyr594Ter)

SNV
Unknown

Chr1:99880678

Likely pathogenic

Glycogen storage disease type III

No Assertion Criteria Provided

CA16040832

rs_1057516563

1 SubmittersRCV000410795

NM_000642.3(AGL):c.2001+2T>C

SNV
Unknown

Chr1:99881179

Likely pathogenic

Glycogen storage disease type III

No Assertion Criteria Provided

CA16040833

rs_1057516708

1 SubmittersRCV000411342

NM_000642.3(AGL):c.2605C>T (p.Gln869Ter)

SNV
Germline

Chr1:99884627

Pathogenic/Likely pathogenic

Glycogen storage disease type III

Criteria Provided
Multiple Submitters
No Conflicts

CA16040838

rs_1057516254

3 SubmittersRCV000409250

NM_000642.3(AGL):c.2681+1G>T

SNV
Germline

Chr1:99884704

Pathogenic/Likely pathogenic

Glycogen storage disease type III
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA966853

rs_201201443

7 SubmittersRCV000411544 RCV002524625

NM_000642.3(AGL):c.2929C>T (p.Arg977Ter)

SNV
Germline

Chr1:99891336

Pathogenic

Glycogen storage disease type III
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA16040839

rs_531425980

9 SubmittersRCV000412306 RCV003238758

NM_000642.3(AGL):c.2950-1G>A

SNV
Unknown

Chr1:99891605

Likely pathogenic

Glycogen storage disease type III

Criteria Provided
Single Submitter

CA16040840

rs_1057516793

2 SubmittersRCV000412447

NM_000642.3(AGL):c.3083+2T>C

SNV
Unknown

Chr1:99891741

Likely pathogenic

Glycogen storage disease type III

No Assertion Criteria Provided

CA16040842

rs_1057516952

1 SubmittersRCV000409012

NM_000642.3(AGL):c.3363-1G>A

SNV
Unknown

Chr1:99900635

Likely pathogenic

Glycogen storage disease type III

No Assertion Criteria Provided

CA16040843

rs_1057516513

1 SubmittersRCV000409092

NM_000642.3(AGL):c.3836+1G>A

SNV
Germline

Chr1:99910848

Pathogenic

Glycogen storage disease type III
Condition: not provided

Criteria Provided
Single Submitter

CA967222

rs_780883601

2 SubmittersRCV000415293 RCV005256606

NM_000642.3(AGL):c.4353G>T (p.Trp1451Cys)

SNV
Germline

Chr1:99916603

Pathogenic/Likely pathogenic

Glycogen storage disease type III

Criteria Provided
Multiple Submitters
No Conflicts

CA967423

rs_775685508

5 SubmittersRCV000415279

NM_000642.3(AGL):c.1423+1G>T

SNV
Germline

Chr1:99876598

Pathogenic/Likely pathogenic

Condition: not provided
Glycogen storage disease type III

Criteria Provided
Multiple Submitters
No Conflicts

CA16603714

rs_751952198

3 SubmittersRCV000421402 RCV002522527

NM_000642.3(AGL):c.846+14G>A

SNV
Germline

Chr1:99870595

Conflicting classifications of pathogenicity

not specified
Glycogen storage disease type III

Criteria Provided
Conflicting Classifications

CA966277

rs_376827010

4 SubmittersRCV000440621 RCV001102149

NM_000642.3(AGL):c.1875G>T (p.Thr625=)

SNV
Germline

Chr1:99880771

Conflicting classifications of pathogenicity

Condition: not provided
Glycogen storage disease type III

Criteria Provided
Conflicting Classifications

CA966609

rs_141944878

8 SubmittersRCV000675328 RCV001085237

NM_000642.3(AGL):c.4331A>G (p.Asn1444Ser)

SNV
Germline

Chr1:99916481

Conflicting classifications of pathogenicity

Condition: not provided
Glycogen storage disease type III
AGL-related disorder

Criteria Provided
Conflicting Classifications

CA967401

rs_143815159

7 SubmittersRCV000487628 RCV001085587 RCV003925417

NM_000642.3(AGL):c.1027C>T (p.Arg343Trp)

SNV
Germline

Chr1:99874755

Likely pathogenic

Condition: not provided
Glycogen storage disease type III

Criteria Provided
Multiple Submitters
No Conflicts

CA341343170

rs_1131691438

5 SubmittersRCV000493598 RCV000667797

NM_000642.3(AGL):c.767G>A (p.Arg256His)

SNV
Germline

Chr1:99870502

Conflicting classifications of pathogenicity

not specified
Glycogen storage disease type III
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA966265

rs_200180652

6 SubmittersRCV000506088 RCV000549049 RCV004023425

NM_000642.3(AGL):c.1028G>A (p.Arg343Gln)

SNV
Germline

Chr1:99874756

Conflicting classifications of pathogenicity

Glycogen storage disease type III
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA966353

rs_137943515

11 SubmittersRCV000537865 RCV002527426 RCV000513969

NM_000642.3(AGL):c.1895T>C (p.Ile632Thr)

SNV
Germline

Chr1:99880791

Conflicting classifications of pathogenicity

Glycogen storage disease type III
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA966616

rs_138823746

4 SubmittersRCV000559891 RCV001843528 RCV002525286

NM_000642.3(AGL):c.2930G>A (p.Arg977Gln)

SNV
Germline

Chr1:99891337

Conflicting classifications of pathogenicity

Glycogen storage disease type III
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA966931

rs_147977213

4 SubmittersRCV000542111 RCV002528305

NM_000642.3(AGL):c.2941A>G (p.Ile981Val)

SNV
Germline

Chr1:99891348

Conflicting classifications of pathogenicity

Glycogen storage disease type III
Condition: not provided

Criteria Provided
Conflicting Classifications

CA966934

rs_148981763

4 SubmittersRCV000551872 RCV001507966

NM_000642.3(AGL):c.4214A>G (p.Glu1405Gly)

SNV
Germline

Chr1:99915441

Conflicting classifications of pathogenicity

Glycogen storage disease type III
Condition: not provided

Criteria Provided
Conflicting Classifications

CA967354

rs_28730708

5 SubmittersRCV000526533 RCV003480666

NM_000642.3(AGL):c.968G>A (p.Arg323Gln)

SNV
Germline

Chr1:99874696

Conflicting classifications of pathogenicity

Glycogen storage disease type III
Condition: not provided
AGL-related disorder

Criteria Provided
Conflicting Classifications

CA966347

rs_139399527

8 SubmittersRCV000542014 RCV001564191 RCV003960263

NM_000642.3(AGL):c.2390A>G (p.Asn797Ser)

SNV
Germline

Chr1:99884201

Conflicting classifications of pathogenicity

Glycogen storage disease type III
Condition: not provided
AGL-related disorder

Criteria Provided
Conflicting Classifications

CA966780

rs_149210307

14 SubmittersRCV000529371 RCV000585302 RCV003979944

NM_000642.3(AGL):c.1810T>G (p.Phe604Val)

SNV
Germline

Chr1:99880706

Conflicting classifications of pathogenicity

Glycogen storage disease type III
Condition: not provided
Inborn genetic diseases
AGL-related disorder

Criteria Provided
Conflicting Classifications

CA966599

rs_138105395

7 SubmittersRCV000556733 RCV001509048 RCV002527670 RCV003935403

NM_000642.3(AGL):c.3652C>T (p.Arg1218Ter)

SNV
Germline

Chr1:99902746

Pathogenic

Glycogen storage disease type III
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA967165

rs_771853367

7 SubmittersRCV000553978 RCV000730413

NM_000642.3(AGL):c.3668G>A (p.Gly1223Asp)

SNV
Germline

Chr1:99902762

Conflicting classifications of pathogenicity

Glycogen storage disease type III

Criteria Provided
Conflicting Classifications

CA967168

rs_202046937

3 SubmittersRCV000532420

NM_000642.3(AGL):c.3764A>G (p.Asn1255Ser)

SNV
Germline

Chr1:99910775

Conflicting classifications of pathogenicity

Glycogen storage disease type III
Condition: not provided
AGL-related disorder

Criteria Provided
Conflicting Classifications

CA967210

rs_138134718

5 SubmittersRCV000556035 RCV001591194 RCV003905330

NM_000642.3(AGL):c.4341A>G (p.Gln1447=)

SNV
Germline

Chr1:99916491

Conflicting classifications of pathogenicity

Glycogen storage disease type III

Criteria Provided
Conflicting Classifications

CA967405

rs_376486225

3 SubmittersRCV000528760

NM_000642.3(AGL):c.4459C>T (p.Arg1487Ter)

SNV
Germline

Chr1:99916709

Pathogenic/Likely pathogenic

Glycogen storage disease type III
Glycogen storage disease

Criteria Provided
Multiple Submitters
No Conflicts

CA967444

rs_12118058

8 SubmittersRCV000531434 RCV000825508

NM_000642.3(AGL):c.4347+1G>A

SNV
Germline

Chr1:99916498

Pathogenic

Glycogen storage disease type III

Criteria Provided
Single Submitter

CA341342376

rs_1553193463

2 SubmittersRCV000539632

NM_000642.3(AGL):c.289C>T (p.Gln97Ter)

SNV
Germline

Chr1:99861709

Pathogenic

Condition: not provided
Glycogen storage disease type III

Criteria Provided
Multiple Submitters
No Conflicts

CA341330204

rs_1553183220

4 SubmittersRCV000593952 RCV000984242

NM_000642.3(AGL):c.293+3A>G

SNV
Germline

Chr1:99861716

Conflicting classifications of pathogenicity

not specified
Glycogen storage disease type III
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA966104

rs_375459662

4 SubmittersRCV000611136 RCV000686891 RCV004975714

NM_000642.3(AGL):c.1082+4T>A

SNV
Germline

Chr1:99874814

Conflicting classifications of pathogenicity

not specified
Glycogen storage disease type III

Criteria Provided
Conflicting Classifications

CA966368

rs_781204563

3 SubmittersRCV000599977 RCV001062252

NM_000642.3(AGL):c.378T>A (p.Cys126Ter)

SNV
Germline

Chr1:99862341

Pathogenic/Likely pathogenic

Glycogen storage disease type III

Criteria Provided
Multiple Submitters
No Conflicts

CA341331715

rs_1553183359

4 SubmittersRCV000625692

NM_000642.3(AGL):c.1933A>G (p.Thr645Ala)

SNV
Germline

Chr1:99881109

Conflicting classifications of pathogenicity

Glycogen storage disease type III
Condition: not provided

Criteria Provided
Conflicting Classifications

CA966645

rs_576969969

6 SubmittersRCV000631127 RCV004691261

NM_000642.3(AGL):c.241T>C (p.Cys81Arg)

SNV
Germline

Chr1:99861661

Conflicting classifications of pathogenicity

Glycogen storage disease type III
Condition: not provided

Criteria Provided
Conflicting Classifications

CA966096

rs_201584227

3 SubmittersRCV000631137 RCV004791641

NM_000642.3(AGL):c.2001+5G>A

SNV
Germline

Chr1:99881182

Pathogenic

Glycogen storage disease type III

Criteria Provided
Single Submitter

CA658795486

rs_1553186489

1 SubmittersRCV000631129

NM_000642.3(AGL):c.4575T>A (p.Ile1525=)

SNV
Germline

Chr1:99921627

Conflicting classifications of pathogenicity

Glycogen storage disease type III
Condition: not provided

Criteria Provided
Conflicting Classifications

CA967475

rs_372116308

6 SubmittersRCV000631169 RCV001662675

NM_000642.3(AGL):c.967C>T (p.Arg323Ter)

SNV
Germline

Chr1:99874695

Pathogenic/Likely pathogenic

Glycogen storage disease type III

Criteria Provided
Multiple Submitters
No Conflicts

CA966346

rs_757987101

4 SubmittersRCV000631131

NM_000642.3(AGL):c.1333A>G (p.Met445Val)

SNV
Germline

Chr1:99876507

Conflicting classifications of pathogenicity

Glycogen storage disease type III
Condition: not provided

Criteria Provided
Conflicting Classifications

CA966464

rs_140375476

3 SubmittersRCV000631151 RCV003480722

NM_000642.3(AGL):c.1437C>A (p.Tyr479Ter)

SNV
Germline

Chr1:99877654

Pathogenic/Likely pathogenic

Glycogen storage disease type III

Criteria Provided
Multiple Submitters
No Conflicts

CA27513135

rs_140095668

4 SubmittersRCV000631125

NM_000642.3(AGL):c.3290G>A (p.Arg1097His)

SNV
Germline

Chr1:99896316

Conflicting classifications of pathogenicity

Glycogen storage disease type III

Criteria Provided
Conflicting Classifications

CA967043

rs_185947256

5 SubmittersRCV000631133

NM_000642.3(AGL):c.1552A>G (p.Thr518Ala)

SNV
Germline

Chr1:99877769

Conflicting classifications of pathogenicity

Glycogen storage disease type III
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA966527

rs_754606378

5 SubmittersRCV000631143 RCV004025396

NM_000642.3(AGL):c.1614C>G (p.Tyr538Ter)

SNV
Germline

Chr1:99879925

Pathogenic

Glycogen storage disease type III

Criteria Provided
Single Submitter

CA341315359

rs_1188310172

1 SubmittersRCV000631149

NM_000642.3(AGL):c.82+1G>A

SNV
Germline

Chr1:99851125

Likely pathogenic

Glycogen storage disease type III

Criteria Provided
Single Submitter

CA341323909

rs_1354714214

2 SubmittersRCV000671602

NM_000642.3(AGL):c.460+1G>A

SNV
Germline

Chr1:99862424

Likely pathogenic

Glycogen storage disease type III

Criteria Provided
Multiple Submitters
No Conflicts

CA27561461

rs_930434905

4 SubmittersRCV000665550

NM_000642.3(AGL):c.1082+1G>C

SNV
Unknown

Chr1:99874811

Likely pathogenic

Glycogen storage disease type III

No Assertion Criteria Provided

CA341343834

rs_751112302

1 SubmittersRCV000669745

NM_000642.3(AGL):c.2158-2A>G

SNV
Germline

Chr1:99881539

Likely pathogenic

Glycogen storage disease type III

Criteria Provided
Multiple Submitters
No Conflicts

CA27516448

rs_878959417

6 SubmittersRCV000673863

NM_000642.3(AGL):c.3613C>T (p.Gln1205Ter)

SNV
Germline

Chr1:99902707

Pathogenic

Glycogen storage disease type III
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA967158

rs_775498547

7 SubmittersRCV000673314 RCV000675340

NM_000642.3(AGL):c.4481+1G>C

SNV
Unknown

Chr1:99916732

Likely pathogenic

Glycogen storage disease type III

No Assertion Criteria Provided

CA341342675

rs_1553193529

1 SubmittersRCV000673984

NM_000642.3(AGL):c.3G>C (p.Met1Ile)

SNV
Unknown

Chr1:99851045

Likely pathogenic

Glycogen storage disease type III

No Assertion Criteria Provided

CA341323353

rs_1553181400

1 SubmittersRCV000666939

NM_000642.3(AGL):c.1159C>T (p.Arg387Ter)

SNV
Germline

Chr1:99875230

Pathogenic/Likely pathogenic

Glycogen storage disease type III

Criteria Provided
Multiple Submitters
No Conflicts

CA341344850

rs_1553185418

3 SubmittersRCV000669251

NM_000642.3(AGL):c.121G>T (p.Gly41Ter)

SNV
Unknown

Chr1:99861541

Likely pathogenic

Glycogen storage disease type III

No Assertion Criteria Provided

CA341329109

rs_1553183178

1 SubmittersRCV000668290

NM_000642.3(AGL):c.2949+2T>A

SNV
Germline

Chr1:99891358

Likely pathogenic

Glycogen storage disease type III

Criteria Provided
Multiple Submitters
No Conflicts

CA341325452

rs_750492389

3 SubmittersRCV000669661

NM_000642.3(AGL):c.3235C>T (p.Gln1079Ter)

SNV
Germline

Chr1:99892583

Pathogenic

Glycogen storage disease type III

Criteria Provided
Multiple Submitters
No Conflicts

CA341327247

rs_1553188849

3 SubmittersRCV000666456

NM_000642.3(AGL):c.3589-1G>A

SNV
Germline

Chr1:99902682

Pathogenic/Likely pathogenic

Glycogen storage disease type III

Criteria Provided
Multiple Submitters
No Conflicts

CA341334226

rs_1289339080

3 SubmittersRCV000665591

NM_000642.3(AGL):c.664+1G>A

SNV
Germline

Chr1:99864590

Conflicting classifications of pathogenicity

Glycogen storage disease type III

Criteria Provided
Conflicting Classifications

CA27563545

rs_61811105

4 SubmittersRCV000664952

NM_000642.3(AGL):c.853C>T (p.Arg285Ter)

SNV
Germline

Chr1:99870764

Pathogenic

Glycogen storage disease type III

Criteria Provided
Multiple Submitters
No Conflicts

CA966298

rs_755747010

6 SubmittersRCV000664775

NM_000642.3(AGL):c.4348G>T (p.Glu1450Ter)

SNV
Germline

Chr1:99916598

Pathogenic/Likely pathogenic

Glycogen storage disease type III

Criteria Provided
Multiple Submitters
No Conflicts

CA341342390

rs_1553193486

4 SubmittersRCV000674441

NM_000642.3(AGL):c.958+1G>A

SNV
Germline

Chr1:99870870

Pathogenic

Glycogen storage disease type III

Criteria Provided
Multiple Submitters
No Conflicts

CA341341936

rs_1553184657

3 SubmittersRCV000664741

NM_000642.3(AGL):c.1612-1G>C

SNV
Unknown

Chr1:99879922

Likely pathogenic

Glycogen storage disease type III

No Assertion Criteria Provided

CA341315351

rs_1327892944

1 SubmittersRCV000666059

NM_000642.3(AGL):c.1589C>G (p.Ser530Ter)

SNV
Germline

Chr1:99877806

Pathogenic

Glycogen storage disease type III

Criteria Provided
Multiple Submitters
No Conflicts

CA341314848

rs_1553185905

4 SubmittersRCV000670429

NM_000642.3(AGL):c.4481+2T>G

SNV
Unknown

Chr1:99916733

Likely pathogenic

Glycogen storage disease type III

Criteria Provided
Single Submitter

CA341342679

rs_1553193530

2 SubmittersRCV000670169

NM_000642.3(AGL):c.2723T>G (p.Leu908Arg)

SNV
Germline

Chr1:99888019

Conflicting classifications of pathogenicity

Glycogen storage disease type III
not specified

Criteria Provided
Conflicting Classifications

CA966878

rs_772347559

5 SubmittersRCV000671456 RCV004702299

NM_000642.3(AGL):c.2728C>T (p.Arg910Ter)

SNV
Germline

Chr1:99888024

Pathogenic

Glycogen storage disease type III

Criteria Provided
Multiple Submitters
No Conflicts

CA966879

rs_773095419

7 SubmittersRCV000671084

NM_000642.3(AGL):c.3362+1G>A

SNV
Germline

Chr1:99896389

Pathogenic/Likely pathogenic

Glycogen storage disease type III

Criteria Provided
Multiple Submitters
No Conflicts

CA341329032

rs_1553189468

4 SubmittersRCV000672877

NM_000642.3(AGL):c.2682-2A>G

SNV
Unknown

Chr1:99887976

Likely pathogenic

Glycogen storage disease type III

No Assertion Criteria Provided

CA341322692

rs_1185321132

1 SubmittersRCV000671061

NM_000642.3(AGL):c.2949+2T>C

SNV
Unknown

Chr1:99891358

Likely pathogenic

Glycogen storage disease type III

No Assertion Criteria Provided

CA966936

rs_750492389

1 SubmittersRCV000667321

NM_000642.3(AGL):c.2950-2A>C

SNV
Germline

Chr1:99891604

Likely pathogenic

Glycogen storage disease type III

Criteria Provided
Multiple Submitters
No Conflicts

CA966946

rs_770438130

3 SubmittersRCV000671872

NM_000642.3(AGL):c.4189G>A (p.Ala1397Thr)

SNV
Germline

Chr1:99915416

Conflicting classifications of pathogenicity

Glycogen storage disease type III

Criteria Provided
Conflicting Classifications

CA967349

rs_375755924

4 SubmittersRCV000673265

NM_000642.3(AGL):c.1432G>A (p.Val478Ile)

SNV
Germline

Chr1:99877649

Conflicting classifications of pathogenicity

Condition: not provided
Glycogen storage disease type III
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA966501

rs_527819721

6 SubmittersRCV000675326 RCV000796907 RCV005572361

NM_000642.3(AGL):c.887T>G (p.Leu296Arg)

SNV
Germline

Chr1:99870798

Conflicting classifications of pathogenicity

Glycogen storage disease type III
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA966303

rs_748142986

4 SubmittersRCV001246997 RCV004978208

NM_000642.3(AGL):c.1261A>G (p.Arg421Gly)

SNV
Germline

Chr1:99875433

Conflicting classifications of pathogenicity

Glycogen storage disease type III
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA966442

rs_150637770

4 SubmittersRCV000687353 RCV005328355

NM_000642.3(AGL):c.1537A>T (p.Thr513Ser)

SNV
Germline

Chr1:99877754

Conflicting classifications of pathogenicity

Glycogen storage disease type III
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA966523

rs_143987049

5 SubmittersRCV000703517 RCV003165893

NM_000642.3(AGL):c.4450G>A (p.Val1484Ile)

SNV
Germline

Chr1:99916700

Conflicting classifications of pathogenicity

Glycogen storage disease type III

Criteria Provided
Conflicting Classifications

CA967442

rs_75076115

3 SubmittersRCV000706770

NM_000642.3(AGL):c.2023C>T (p.Arg675Trp)

SNV
Germline

Chr1:99881313

Conflicting classifications of pathogenicity

Glycogen storage disease type III

Criteria Provided
Conflicting Classifications

CA966678

rs_765749454

3 SubmittersRCV000778176

NM_000642.3(AGL):c.1405C>T (p.Arg469Ter)

SNV
Germline

Chr1:99876579

Pathogenic/Likely pathogenic

Glycogen storage disease type III
Glycogen storage disease IIIa
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA966477

rs_766536350

4 SubmittersRCV000780820 RCV001420705 RCV003480811

NM_000642.3(AGL):c.1180G>T (p.Glu394Ter)

SNV
Germline

Chr1:99875251

Pathogenic

Glycogen storage disease type III

Criteria Provided
Single Submitter

CA341344948

rs_1570433686

1 SubmittersRCV000817115

NM_000642.3(AGL):c.1783C>T (p.Arg595Ter)

SNV
Germline

Chr1:99880679

Pathogenic

Glycogen storage disease type III

Criteria Provided
Multiple Submitters
No Conflicts

CA966592

rs_765367405

6 SubmittersRCV000805441

NM_000642.3(AGL):c.2384C>A (p.Ser795Ter)

SNV
Germline

Chr1:99884195

Pathogenic

Glycogen storage disease type III

Criteria Provided
Single Submitter

CA341320819

rs_1206517501

1 SubmittersRCV000803309

NM_000642.3(AGL):c.2727C>G (p.Tyr909Ter)

SNV
Germline

Chr1:99888023

Pathogenic

Glycogen storage disease type III

Criteria Provided
Single Submitter

CA341322971

rs_1239498701

1 SubmittersRCV000819446

NM_000642.3(AGL):c.3179C>G (p.Ser1060Ter)

SNV
Germline

Chr1:99892527

Pathogenic

Glycogen storage disease type III

Criteria Provided
Multiple Submitters
No Conflicts

CA27527921

rs_774926455

3 SubmittersRCV000818392

NM_000642.3(AGL):c.3444C>A (p.Tyr1148Ter)

SNV
Germline

Chr1:99900717

Pathogenic

Glycogen storage disease type III
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA967081

rs_776977863

4 SubmittersRCV000811556 RCV004719999

NM_000642.3(AGL):c.4525C>T (p.Gln1509Ter)

SNV
Germline

Chr1:99921577

Pathogenic

Glycogen storage disease type III

Criteria Provided
Single Submitter

CA341343575

rs_1480850606

1 SubmittersRCV000813231

NM_000642.3(AGL):c.443G>A (p.Arg148Lys)

SNV
Germline

Chr1:99862406

Conflicting classifications of pathogenicity

Glycogen storage disease type III
Condition: not provided

Criteria Provided
Conflicting Classifications

CA966162

rs_542885983

3 SubmittersRCV000877321 RCV005231930

NM_000642.3(AGL):c.2219A>G (p.His740Arg)

SNV
Germline

Chr1:99881602

Conflicting classifications of pathogenicity

Glycogen storage disease type III
Condition: not provided

Criteria Provided
Conflicting Classifications

CA966718

rs_562215810

4 SubmittersRCV000902396 RCV001759666

NM_000642.3(AGL):c.344T>C (p.Val115Ala)

SNV
Germline

Chr1:99862307

Conflicting classifications of pathogenicity

Glycogen storage disease type III

Criteria Provided
Conflicting Classifications

CA966141

rs_567992352

4 SubmittersRCV000914495

NM_000642.3(AGL):c.2497C>A (p.Gln833Lys)

SNV
Germline

Chr1:99884402

Conflicting classifications of pathogenicity

Glycogen storage disease type III
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA966802

rs_757870729

3 SubmittersRCV000923493 RCV004619454

NM_000642.3(AGL):c.2682-7T>C

SNV
Germline

Chr1:99887971

Conflicting classifications of pathogenicity

Glycogen storage disease type III

Criteria Provided
Conflicting Classifications

CA966868

rs_375256646

3 SubmittersRCV000952109

NM_000642.3(AGL):c.576T>G (p.Tyr192Ter)

SNV
Germline

Chr1:99864501

Pathogenic

Glycogen storage disease type III

Criteria Provided
Multiple Submitters
No Conflicts

CA341335951

rs_1571232325

2 SubmittersRCV000986380

NM_000642.3(AGL):c.1734A>T (p.Arg578Ser)

SNV
Germline

Chr1:99880045

Conflicting classifications of pathogenicity

Glycogen storage disease type III
not specified

Criteria Provided
Conflicting Classifications

CA341316038

rs_1570442236

2 SubmittersRCV000986382 RCV005408116

NM_000642.3(AGL):c.2083C>T (p.Gln695Ter)

SNV
Germline

Chr1:99881373

Pathogenic

Glycogen storage disease type III

Criteria Provided
Multiple Submitters
No Conflicts

CA341318999

rs_1570445130

2 SubmittersRCV000986384

NM_000642.3(AGL):c.3492C>G (p.Tyr1164Ter)

SNV
Unknown

Chr1:99900765

Pathogenic

Glycogen storage disease type III

Criteria Provided
Single Submitter

CA341331829

rs_370202718

1 SubmittersRCV000986385

NM_000642.3(AGL):c.3637C>T (p.Gln1213Ter)

SNV
Unknown

Chr1:99902731

Pathogenic

Glycogen storage disease type III

Criteria Provided
Single Submitter

CA341334688

rs_1570487381

1 SubmittersRCV000986387

NM_000642.3(AGL):c.595C>T (p.Gln199Ter)

SNV
Germline

Chr1:99864520

Pathogenic

Glycogen storage disease type III
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA966212

rs_780694207

7 SubmittersRCV001069267 RCV003480948

NM_000642.3(AGL):c.1571G>A (p.Arg524His)

SNV
Germline

Chr1:99877788

Pathogenic

Glycogen storage disease type III
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA966530

rs_758182700

7 SubmittersRCV001047067 RCV003480922

NM_000642.3(AGL):c.2155C>T (p.Gln719Ter)

SNV
Germline

Chr1:99881445

Pathogenic/Likely pathogenic

Glycogen storage disease type III

Criteria Provided
Multiple Submitters
No Conflicts

CA341319507

rs_1652018859

5 SubmittersRCV001062519

NM_000642.3(AGL):c.3184G>T (p.Ala1062Ser)

SNV
Germline

Chr1:99892532

Conflicting classifications of pathogenicity

Glycogen storage disease type III
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA341326926

rs_1475224037

2 SubmittersRCV001060531 RCV005562551

NM_000642.3(AGL):c.4087A>T (p.Lys1363Ter)

SNV
Germline

Chr1:99913664

Pathogenic

Glycogen storage disease type III

Criteria Provided
Single Submitter

CA341340022

rs_1654912428

1 SubmittersRCV001060713

NM_000642.3(AGL):c.958+1G>T

SNV
Germline

Chr1:99870870

Pathogenic

Glycogen storage disease type III

Criteria Provided
Single Submitter

CA341341940

rs_1553184657

1 SubmittersRCV001047874

NM_000642.3(AGL):c.1423+1G>C

SNV
Germline

Chr1:99876598

Pathogenic

Glycogen storage disease type III

Criteria Provided
Multiple Submitters
No Conflicts

CA966483

rs_751952198

3 SubmittersRCV001043998

NM_000642.3(AGL):c.1794A>G (p.Gly598=)

SNV
Germline

Chr1:99880690

Conflicting classifications of pathogenicity

Glycogen storage disease type III

Criteria Provided
Conflicting Classifications

CA419080807

rs_1651940013

2 SubmittersRCV001100241

NM_000642.3(AGL):c.*2058G>A

SNV
Germline

Chr1:99923709

Conflicting classifications of pathogenicity

Glycogen storage disease type III
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10970314

rs_12117747

3 SubmittersRCV001097026 RCV002264183

NM_000642.3(AGL):c.*2060T>C

SNV
Germline

Chr1:99923711

Conflicting classifications of pathogenicity

Glycogen storage disease type III
Condition: not provided

Criteria Provided
Conflicting Classifications

CA27566458

rs_191429370

3 SubmittersRCV001097027 RCV002511033

NM_000642.3(AGL):c.958+12A>G

SNV
Germline

Chr1:99870881

Conflicting classifications of pathogenicity

Glycogen storage disease type III

Criteria Provided
Conflicting Classifications

CA524719329

rs_1227779911

2 SubmittersRCV001096731

NM_000642.3(AGL):c.1829G>A (p.Arg610Lys)

SNV
Germline

Chr1:99880725

Conflicting classifications of pathogenicity

Glycogen storage disease type III
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA966601

rs_781127120

5 SubmittersRCV001214310 RCV003222258 RCV003284063

NM_000642.3(AGL):c.3465G>A (p.Trp1155Ter)

SNV
Germline

Chr1:99900738

Pathogenic

Glycogen storage disease type III

Criteria Provided
Single Submitter

CA341331502

rs_762547610

1 SubmittersRCV001215338

NM_000642.3(AGL):c.4043T>G (p.Leu1348Ter)

SNV
Germline

Chr1:99913620

Pathogenic

Glycogen storage disease type III

Criteria Provided
Single Submitter

CA341339831

rs_1654908371

1 SubmittersRCV001219265

NM_000642.3(AGL):c.907C>T (p.Gln303Ter)

SNV
Germline

Chr1:99870818

Pathogenic/Likely pathogenic

Glycogen storage disease type III

Criteria Provided
Multiple Submitters
No Conflicts

CA966308

rs_145362161

4 SubmittersRCV001204035

NM_000642.3(AGL):c.2960G>A (p.Trp987Ter)

SNV
Germline

Chr1:99891616

Pathogenic

Glycogen storage disease type III

Criteria Provided
Single Submitter

CA341325597

rs_1652906180

1 SubmittersRCV001211318

NM_000642.3(AGL):c.664+2T>C

SNV
Germline

Chr1:99864591

Likely pathogenic

Glycogen storage disease type III

Criteria Provided
Single Submitter

CA341337273

rs_1650347038

1 SubmittersRCV001202978

NM_000642.3(AGL):c.1900-2A>G

SNV
Germline

Chr1:99881074

Pathogenic

Glycogen storage disease type III

Criteria Provided
Single Submitter

CA341317806

rs_1254391875

1 SubmittersRCV001207730

NM_000642.3(AGL):c.3589-3C>G

SNV
Germline

Chr1:99902680

Pathogenic/Likely pathogenic

Glycogen storage disease type III

Criteria Provided
Multiple Submitters
No Conflicts

CA1139656257

rs_1653935585

2 SubmittersRCV001217602

NM_000642.3(AGL):c.4193G>A (p.Trp1398Ter)

SNV
Germline

Chr1:99915420

Pathogenic

Glycogen storage disease type III

Criteria Provided
Multiple Submitters
No Conflicts

CA341341014

rs_1344484845

3 SubmittersRCV001226098

NM_000642.3(AGL):c.2799T>G (p.Tyr933Ter)

SNV
Germline

Chr1:99888095

Pathogenic/Likely pathogenic

Glycogen storage disease type III

Criteria Provided
Multiple Submitters
No Conflicts

CA341323283

rs_767529587

4 SubmittersRCV001242186

NM_000642.3(AGL):c.1284-2A>G

SNV
Germline

Chr1:99876456

Likely pathogenic

Glycogen storage disease type III

Criteria Provided
Multiple Submitters
No Conflicts

CA341345756

rs_1651536973

2 SubmittersRCV001244991

NM_000642.3(AGL):c.4347+1G>C

SNV
Germline

Chr1:99916498

Pathogenic

Glycogen storage disease type III

Criteria Provided
Single Submitter

CA341342377

rs_1553193463

1 SubmittersRCV001243974

NM_000642.3(AGL):c.4371T>G (p.Tyr1457Ter)

SNV
Germline

Chr1:99916621

Pathogenic

Glycogen storage disease type III

Criteria Provided
Multiple Submitters
No Conflicts

CA341342440

rs_1655136943

3 SubmittersRCV001260901

NM_000642.3(AGL):c.454G>T (p.Glu152Ter)

SNV
Germline

Chr1:99862417

Pathogenic/Likely pathogenic

Glycogen storage disease type III

Criteria Provided
Multiple Submitters
No Conflicts

CA341332967

rs_1650125542

4 SubmittersRCV001263786

NM_000642.3(AGL):c.458C>A (p.Ser153Ter)

SNV
Unknown

Chr1:99862421

Likely pathogenic

Glycogen storage disease type III

Criteria Provided
Single Submitter

CA341333011

rs_1650126015

1 SubmittersRCV001263787

NM_000642.3(AGL):c.516C>A (p.Cys172Ter)

SNV
Unknown

Chr1:99864441

Likely pathogenic

Glycogen storage disease type III

Criteria Provided
Single Submitter

CA341335285

rs_1650330685

1 SubmittersRCV001263788

NM_000642.3(AGL):c.680G>A (p.Trp227Ter)

SNV
Unknown

Chr1:99870415

Likely pathogenic

Glycogen storage disease type III

Criteria Provided
Single Submitter

CA341339191

rs_145929061

1 SubmittersRCV001263789

NM_000642.3(AGL):c.681G>A (p.Trp227Ter)

SNV
Unknown

Chr1:99870416

Likely pathogenic

Glycogen storage disease type III

Criteria Provided
Single Submitter

CA966249

rs_753914653

1 SubmittersRCV001263790

NM_000642.3(AGL):c.867G>A (p.Trp289Ter)

SNV
Unknown

Chr1:99870778

Likely pathogenic

Glycogen storage disease type III

Criteria Provided
Single Submitter

CA341341157

rs_1650926061

1 SubmittersRCV001264160

NM_000642.3(AGL):c.991C>T (p.Gln331Ter)

SNV
Unknown

Chr1:99874719

Likely pathogenic

Glycogen storage disease type III

Criteria Provided
Single Submitter

CA341343020

rs_1651353836

1 SubmittersRCV001264161

NM_000642.3(AGL):c.1038T>A (p.Cys346Ter)

SNV
Unknown

Chr1:99874766

Likely pathogenic

Glycogen storage disease type III

Criteria Provided
Single Submitter

CA341343225

rs_1651358664

1 SubmittersRCV001264162

NM_000642.3(AGL):c.1110C>A (p.Cys370Ter)

SNV
Unknown

Chr1:99875181

Likely pathogenic

Glycogen storage disease type III

Criteria Provided
Single Submitter

CA341344675

rs_1651407980

1 SubmittersRCV001264163

NM_000642.3(AGL):c.1417G>T (p.Glu473Ter)

SNV
Unknown

Chr1:99876591

Likely pathogenic

Glycogen storage disease type III

Criteria Provided
Single Submitter

CA341346780

rs_1651556356

1 SubmittersRCV001264164

NM_000642.3(AGL):c.1649T>G (p.Leu550Ter)

SNV
Germline

Chr1:99879960

Pathogenic/Likely pathogenic

Glycogen storage disease type III

Criteria Provided
Multiple Submitters
No Conflicts

CA341315521

rs_1651872905

2 SubmittersRCV001264165

NM_000642.3(AGL):c.1727T>G (p.Leu576Ter)

SNV
Germline

Chr1:99880038

Pathogenic/Likely pathogenic

Glycogen storage disease type III

Criteria Provided
Multiple Submitters
No Conflicts

CA341315973

rs_1651881949

2 SubmittersRCV001264166

NM_000642.3(AGL):c.1890T>A (p.Cys630Ter)

SNV
Unknown

Chr1:99880786

Likely pathogenic

Glycogen storage disease type III

Criteria Provided
Single Submitter

CA341317133

rs_1651951474

1 SubmittersRCV001264167

NM_000642.3(AGL):c.2569C>T (p.Gln857Ter)

SNV
Unknown

Chr1:99884591

Likely pathogenic

Glycogen storage disease type III

Criteria Provided
Single Submitter

CA341321584

rs_1652306026

1 SubmittersRCV001264287

NM_000642.3(AGL):c.2738C>A (p.Ser913Ter)

SNV
Unknown

Chr1:99888034

Likely pathogenic

Glycogen storage disease type III

Criteria Provided
Single Submitter

CA341323018

rs_1652583223

1 SubmittersRCV001264288

NM_000642.3(AGL):c.2894G>A (p.Trp965Ter)

SNV
Germline

Chr1:99891301

Pathogenic/Likely pathogenic

Glycogen storage disease type III

Criteria Provided
Multiple Submitters
No Conflicts

CA341325186

rs_1652877420

3 SubmittersRCV001264289

NM_000642.3(AGL):c.3480T>A (p.Cys1160Ter)

SNV
Unknown

Chr1:99900753

Likely pathogenic

Glycogen storage disease type III

Criteria Provided
Single Submitter

CA341331656

rs_763652784

1 SubmittersRCV001264290

NM_000642.3(AGL):c.3718G>T (p.Gly1240Ter)

SNV
Unknown

Chr1:99910729

Likely pathogenic

Glycogen storage disease type III

Criteria Provided
Single Submitter

CA341337326

rs_1654687449

1 SubmittersRCV001264291

NM_000642.3(AGL):c.3793G>T (p.Glu1265Ter)

SNV
Unknown

Chr1:99910804

Likely pathogenic

Glycogen storage disease type III

Criteria Provided
Single Submitter

CA341337903

rs_1654695322

1 SubmittersRCV001264292

NM_000642.3(AGL):c.3835A>T (p.Arg1279Ter)

SNV
Unknown

Chr1:99910846

Likely pathogenic

Glycogen storage disease type III

Criteria Provided
Single Submitter

CA341338095

rs_1654701324

1 SubmittersRCV001264293

NM_000642.3(AGL):c.3895G>T (p.Glu1299Ter)

SNV
Unknown

Chr1:99912463

Likely pathogenic

Glycogen storage disease type III

Criteria Provided
Single Submitter

CA341338867

rs_1654817532

1 SubmittersRCV001264294

NM_000642.3(AGL):c.3899T>G (p.Leu1300Ter)

SNV
Unknown

Chr1:99912467

Likely pathogenic

Glycogen storage disease type III

Criteria Provided
Single Submitter

CA341338885

rs_1654818141

1 SubmittersRCV001263727

NM_000642.3(AGL):c.4275T>A (p.Cys1425Ter)

SNV
Unknown

Chr1:99916425

Likely pathogenic

Glycogen storage disease type III

Criteria Provided
Single Submitter

CA341342217

rs_1655117886

1 SubmittersRCV001263728

NM_000642.3(AGL):c.664+1G>C

SNV
Germline

Chr1:99864590

Likely pathogenic

Glycogen storage disease type III

Criteria Provided
Single Submitter

CA341337267

rs_61811105

1 SubmittersRCV001293791

NM_000642.3(AGL):c.1612-1G>A

SNV
Germline

Chr1:99879922

Likely pathogenic

Glycogen storage disease type III

Criteria Provided
Multiple Submitters
No Conflicts

CA341315350

rs_1327892944

3 SubmittersRCV001293792

NM_000642.3(AGL):c.1788T>G (p.Tyr596Ter)

SNV
Germline

Chr1:99880684

Pathogenic/Likely pathogenic

Glycogen storage disease type III

Criteria Provided
Multiple Submitters
No Conflicts

CA341316498

rs_777871903

2 SubmittersRCV001293785

NM_000642.3(AGL):c.1880A>G (p.Asp627Gly)

SNV
Germline

Chr1:99880776

Conflicting classifications of pathogenicity

Glycogen storage disease type III

Criteria Provided
Conflicting Classifications

CA966612

rs_764236940

4 SubmittersRCV001293794

NM_000642.3(AGL):c.2497C>T (p.Gln833Ter)

SNV
Germline

Chr1:99884402

Pathogenic

Glycogen storage disease type III

Criteria Provided
Single Submitter

CA341321252

rs_757870729

1 SubmittersRCV001293786

NM_000642.3(AGL):c.2949+5G>A

SNV
Germline

Chr1:99891361

Likely pathogenic

Glycogen storage disease type III

Criteria Provided
Single Submitter

CA1183933259

rs_1652885754

1 SubmittersRCV001293793

NM_000642.3(AGL):c.3214G>T (p.Glu1072Ter)

SNV
Germline

Chr1:99892562

Pathogenic

Glycogen storage disease type III

Criteria Provided
Single Submitter

CA967000

rs_752840373

1 SubmittersRCV001293787

NM_000642.3(AGL):c.3362G>A (p.Arg1121Lys)

SNV
Germline

Chr1:99896388

Conflicting classifications of pathogenicity

Glycogen storage disease type III
not specified

Criteria Provided
Conflicting Classifications

CA341329023

rs_1653326843

3 SubmittersRCV001293795 RCV005408817

NM_000642.3(AGL):c.4126C>T (p.Gln1376Ter)

SNV
Germline

Chr1:99913703

Pathogenic/Likely pathogenic

Glycogen storage disease type III

Criteria Provided
Multiple Submitters
No Conflicts

CA341340262

rs_762602838

3 SubmittersRCV001293788

NM_000642.3(AGL):c.4599G>C (p.Ter1533Tyr)

SNV
Germline

Chr1:99921651

Likely pathogenic

Glycogen storage disease type III

Criteria Provided
Single Submitter

CA341344101

rs_1655521504

1 SubmittersRCV001293796

NM_000642.3(AGL):c.1199T>C (p.Leu400Pro)

SNV
Germline

Chr1:99875371

Conflicting classifications of pathogenicity

Glycogen storage disease type III
Condition: not provided

Criteria Provided
Conflicting Classifications

CA341345193

rs_1275707003

2 SubmittersRCV001351838 RCV003481088

NM_000642.3(AGL):c.2309-2A>G

SNV
Germline

Chr1:99884118

Likely pathogenic

Glycogen storage disease type III

Criteria Provided
Multiple Submitters
No Conflicts

CA341320513

rs_1253347170

3 SubmittersRCV001377581

NM_000642.3(AGL):c.685C>T (p.Gln229Ter)

SNV
Germline

Chr1:99870420

Pathogenic/Likely pathogenic

Glycogen storage disease type III

Criteria Provided
Multiple Submitters
No Conflicts

CA27568658

rs_971749992

2 SubmittersRCV001381294

NM_000642.3(AGL):c.955C>T (p.Gln319Ter)

SNV
Germline

Chr1:99870866

Pathogenic

Glycogen storage disease type III

Criteria Provided
Single Submitter

CA341341913

rs_753488821

1 SubmittersRCV001383984

NM_000642.3(AGL):c.1639C>T (p.Gln547Ter)

SNV
Germline

Chr1:99879950

Pathogenic

Glycogen storage disease type III

Criteria Provided
Single Submitter

CA341315476

rs_2101145154

1 SubmittersRCV001384149

NM_000642.3(AGL):c.3928G>T (p.Glu1310Ter)

SNV
Germline

Chr1:99912496

Pathogenic

Glycogen storage disease type III

Criteria Provided
Single Submitter

CA341339044

rs_2100854670

1 SubmittersRCV001382587

NM_000642.3(AGL):c.4027G>T (p.Glu1343Ter)

SNV
Germline

Chr1:99913604

Pathogenic

Glycogen storage disease type III

Criteria Provided
Single Submitter

CA341339757

rs_112795811

1 SubmittersRCV001382567

NM_000642.3(AGL):c.4115G>A (p.Trp1372Ter)

SNV
Germline

Chr1:99913692

Pathogenic

Glycogen storage disease type III

Criteria Provided
Multiple Submitters
No Conflicts

CA341340201

rs_1183383313

2 SubmittersRCV001388625

NM_000642.3(AGL):c.4352G>A (p.Trp1451Ter)

SNV
Germline

Chr1:99916602

Pathogenic

Glycogen storage disease type III

Criteria Provided
Single Submitter

CA341342398

rs_1557794036

1 SubmittersRCV001382962

NM_000642.3(AGL):c.3439A>T (p.Arg1147Ter)

SNV
Germline

Chr1:99900712

Likely pathogenic

Glycogen storage disease type III

Criteria Provided
Single Submitter

CA341331218

rs_267606639

1 SubmittersRCV001449735

NM_000642.3(AGL):c.2681+5G>C

SNV
Germline

Chr1:99884708

Pathogenic

Glycogen storage disease type III

Criteria Provided
Single Submitter

CA524708350

rs_1249689678

1 SubmittersRCV001647340

NM_000642.3(AGL):c.2433+1G>A

SNV
Germline

Chr1:99884245

Likely pathogenic

Glycogen storage disease type III

Criteria Provided
Single Submitter

CA341321008

rs_2100768428

1 SubmittersRCV001532921

NM_000642.3(AGL):c.1736-11A>G

SNV
Germline

Chr1:99880621

Pathogenic/Likely pathogenic

Glycogen storage disease type III

Criteria Provided
Multiple Submitters
No Conflicts

CA2499214931

rs_2101148246

2 SubmittersRCV001706916

NM_000642.3(AGL):c.3362+2T>C

SNV
Germline

Chr1:99896390

Pathogenic/Likely pathogenic

Glycogen storage disease type III

Criteria Provided
Multiple Submitters
No Conflicts

CA341329043

rs_2100804114

4 SubmittersRCV001783293

NM_000642.3(AGL):c.1383G>A (p.Trp461Ter)

SNV
Germline

Chr1:99876557

Pathogenic

Glycogen storage disease type III

Criteria Provided
Single Submitter

CA341346491

rs_2101132362

1 SubmittersRCV001836685

NM_000642.3(AGL):c.3259+1G>A

SNV
Germline

Chr1:99892608

Pathogenic/Likely pathogenic

Glycogen storage disease type III

Criteria Provided
Multiple Submitters
No Conflicts

CA341327371

rs_1394576194

4 SubmittersRCV001934271

NM_000642.3(AGL):c.3700+1G>A

SNV
Germline

Chr1:99902795

Likely pathogenic

Glycogen storage disease type III

Criteria Provided
Single Submitter

CA341335408

rs_2100825216

1 SubmittersRCV001969017

NM_000642.3(AGL):c.4347+1G>T

SNV
Germline

Chr1:99916498

Likely pathogenic

Glycogen storage disease type III

Criteria Provided
Single Submitter

CA341342378

rs_1553193463

1 SubmittersRCV001993584

NM_000642.3(AGL):c.1243A>T (p.Lys415Ter)

SNV
Germline

Chr1:99875415

Pathogenic/Likely pathogenic

Glycogen storage disease type III

Criteria Provided
Multiple Submitters
No Conflicts

CA341345529

rs_2101128697

2 SubmittersRCV002037704

NM_000642.3(AGL):c.3484C>T (p.Gln1162Ter)

SNV
Germline

Chr1:99900757

Pathogenic

Glycogen storage disease type III

Criteria Provided
Single Submitter

CA341331714

rs_2100818414

1 SubmittersRCV001939392

NM_000642.3(AGL):c.2434-1G>T

SNV
Germline

Chr1:99884338

Likely pathogenic

Glycogen storage disease type III

Criteria Provided
Single Submitter

CA341321030

rs_2100768726

1 SubmittersRCV001998676

NM_000642.3(AGL):c.3260-2A>T

SNV
Germline

Chr1:99896284

Likely pathogenic

Glycogen storage disease type III

Criteria Provided
Single Submitter

CA967037

rs_775904482

1 SubmittersRCV002005688

NM_000642.3(AGL):c.2002-1G>C

SNV
Germline

Chr1:99881291

Likely pathogenic

Glycogen storage disease type III

Criteria Provided
Single Submitter

CA341318426

rs_2100759240

1 SubmittersRCV002016961

NM_000642.3(AGL):c.1321A>G (p.Met441Val)

SNV
Germline

Chr1:99876495

Conflicting classifications of pathogenicity

Glycogen storage disease type III
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA966463

rs_753035763

2 SubmittersRCV002003041 RCV002592525

NM_000642.3(AGL):c.3083+1G>A

SNV
Germline

Chr1:99891740

Likely pathogenic

Glycogen storage disease type III

Criteria Provided
Single Submitter

CA341326408

rs_2100790188

1 SubmittersRCV002001065

NM_000642.3(AGL):c.4348-2A>T

SNV
Germline

Chr1:99916596

Likely pathogenic

Glycogen storage disease type III

Criteria Provided
Single Submitter

CA341342384

rs_1353062665

1 SubmittersRCV002018419

NM_000642.3(AGL):c.4311C>G (p.Tyr1437Ter)

SNV
Germline

Chr1:99916461

Pathogenic

Glycogen storage disease type III

Criteria Provided
Single Submitter

CA341342299

rs_760889909

1 SubmittersRCV001927656

NM_000642.3(AGL):c.3697G>T (p.Glu1233Ter)

SNV
Germline

Chr1:99902791

Pathogenic

Glycogen storage disease type III

Criteria Provided
Single Submitter

CA341335353

rs_375254875

1 SubmittersRCV001982997

NM_000642.3(AGL):c.4162-1G>A

SNV
Germline

Chr1:99915388

Likely pathogenic

Glycogen storage disease type III

Criteria Provided
Multiple Submitters
No Conflicts

CA341340750

rs_1490339052

2 SubmittersRCV001966750

NM_000642.3(AGL):c.3374T>G (p.Leu1125Ter)

SNV
Germline

Chr1:99900647

Pathogenic

Glycogen storage disease type III

Criteria Provided
Single Submitter

CA341330564

rs_2100817917

1 SubmittersRCV001949617

NM_000642.3(AGL):c.613A>T (p.Lys205Ter)

SNV
Germline

Chr1:99864538

Pathogenic

Glycogen storage disease type III

Criteria Provided
Multiple Submitters
No Conflicts

CA341336154

rs_562042076

3 SubmittersRCV001911852

NM_000642.3(AGL):c.2433+2T>C

SNV
Germline

Chr1:99884246

Pathogenic

Glycogen storage disease type III

Criteria Provided
Single Submitter

CA341321015

rs_2100768436

1 SubmittersRCV002249236

NM_000642.3(AGL):c.2950-1G>C

SNV
Germline

Chr1:99891605

Pathogenic/Likely pathogenic

Glycogen storage disease type III

Criteria Provided
Multiple Submitters
No Conflicts

CA341325507

rs_1057516793

2 SubmittersRCV002249237

NM_000642.3(AGL):c.1859T>C (p.Leu620Pro)

SNV
Germline

Chr1:99880755

Likely pathogenic

Glycogen storage disease type III

Criteria Provided
Single Submitter

CA341316933

rs_2524644038

1 SubmittersRCV002283724

NM_000642.3(AGL):c.1083-1G>A

SNV
Germline

Chr1:99875153

Pathogenic

Glycogen storage disease type III

Criteria Provided
Single Submitter

CA341344617

rs_2524598786

1 SubmittersRCV002292199

NM_000642.3(AGL):c.1727T>A (p.Leu576Ter)

SNV
Unknown

Chr1:99880038

Likely pathogenic

Glycogen storage disease type III

Criteria Provided
Single Submitter

CA341315962

rs_1651881949

1 SubmittersRCV002306455

NM_000642.3(AGL):c.4099G>T (p.Gly1367Ter)

SNV
Unknown

Chr1:99913676

Likely pathogenic

Glycogen storage disease type III

Criteria Provided
Single Submitter

CA341340107

rs_2523826031

1 SubmittersRCV002309638

NM_000642.3(AGL):c.2623A>T (p.Lys875Ter)

SNV
Unknown

Chr1:99884645

Likely pathogenic

Glycogen storage disease type III

Criteria Provided
Single Submitter

CA341321802

rs_750932668

1 SubmittersRCV002309731

NM_000642.3(AGL):c.2692A>T (p.Arg898Ter)

SNV
Unknown

Chr1:99887988

Likely pathogenic

Glycogen storage disease type III

Criteria Provided
Single Submitter

CA341322756

rs_751094147

1 SubmittersRCV002309766

NM_000642.3(AGL):c.4295T>A (p.Leu1432Ter)

SNV
Unknown

Chr1:99916445

Likely pathogenic

Glycogen storage disease type III

Criteria Provided
Single Submitter

CA341342261

rs_2523861670

1 SubmittersRCV002309934

NM_000642.3(AGL):c.4243A>T (p.Lys1415Ter)

SNV
Unknown

Chr1:99915470

Likely pathogenic

Glycogen storage disease type III

Criteria Provided
Single Submitter

CA341341437

rs_1474659679

1 SubmittersRCV002307873

NM_000642.3(AGL):c.2702T>A (p.Leu901Ter)

SNV
Unknown

Chr1:99887998

Likely pathogenic

Glycogen storage disease type III

Criteria Provided
Single Submitter

CA341322819

rs_1557769782

1 SubmittersRCV002307945

NM_000642.3(AGL):c.338T>A (p.Leu113Ter)

SNV
Unknown

Chr1:99862301

Likely pathogenic

Glycogen storage disease type III

Criteria Provided
Single Submitter

CA341331016

rs_2524498281

1 SubmittersRCV002308043

NM_000642.3(AGL):c.1427C>A (p.Ser476Ter)

SNV
Unknown

Chr1:99877644

Likely pathogenic

Glycogen storage disease type III

Criteria Provided
Single Submitter

CA341314476

rs_2524620234

1 SubmittersRCV002308065

NM_000642.3(AGL):c.408T>A (p.Cys136Ter)

SNV
Unknown

Chr1:99862371

Likely pathogenic

Glycogen storage disease type III

Criteria Provided
Single Submitter

CA341332177

rs_2524499198

1 SubmittersRCV002308130

NM_000642.3(AGL):c.1907C>G (p.Ser636Ter)

SNV
Germline

Chr1:99881083

Pathogenic/Likely pathogenic

Glycogen storage disease type III

Criteria Provided
Multiple Submitters
No Conflicts

CA341317847

rs_2524647813

3 SubmittersRCV002308221

NM_000642.3(AGL):c.3223A>T (p.Lys1075Ter)

SNV
Unknown

Chr1:99892571

Likely pathogenic

Glycogen storage disease type III

Criteria Provided
Single Submitter

CA341327175

rs_2524732639

1 SubmittersRCV002309099

NM_000642.3(AGL):c.1444A>T (p.Arg482Ter)

SNV
Unknown

Chr1:99877661

Likely pathogenic

Glycogen storage disease type III

Criteria Provided
Single Submitter

CA341314511

rs_1651659929

1 SubmittersRCV002309180

NM_000642.3(AGL):c.3790G>T (p.Gly1264Ter)

SNV
Unknown

Chr1:99910801

Likely pathogenic

Glycogen storage disease type III

Criteria Provided
Single Submitter

CA341337885

rs_2523798798

1 SubmittersRCV002309350

NM_000642.3(AGL):c.1536C>A (p.Tyr512Ter)

SNV
Unknown

Chr1:99877753

Likely pathogenic

Glycogen storage disease type III

Criteria Provided
Single Submitter

CA341314732

rs_2524621713

1 SubmittersRCV002306879

NM_000642.3(AGL):c.623G>A (p.Trp208Ter)

SNV
Unknown

Chr1:99864548

Likely pathogenic

Glycogen storage disease type III

Criteria Provided
Single Submitter

CA341336197

rs_772920146

1 SubmittersRCV002307063

NM_000642.3(AGL):c.2783G>A (p.Trp928Ter)

SNV
Unknown

Chr1:99888079

Likely pathogenic

Glycogen storage disease type III

Criteria Provided
Single Submitter

CA341323218

rs_1182488370

1 SubmittersRCV002307249

NM_000642.3(AGL):c.2109T>A (p.Cys703Ter)

SNV
Unknown

Chr1:99881399

Likely pathogenic

Glycogen storage disease type III

Criteria Provided
Single Submitter

CA341319200

rs_2524651965

1 SubmittersRCV002307256

NM_000642.3(AGL):c.2277C>A (p.Tyr759Ter)

SNV
Unknown

Chr1:99881660

Likely pathogenic

Glycogen storage disease type III

Criteria Provided
Single Submitter

CA341319997

rs_2100760610

1 SubmittersRCV002310302

NM_000642.3(AGL):c.3450T>A (p.Cys1150Ter)

SNV
Unknown

Chr1:99900723

Likely pathogenic

Glycogen storage disease type III

Criteria Provided
Single Submitter

CA341331349

rs_2523715235

1 SubmittersRCV002310322

NM_000642.3(AGL):c.3604G>T (p.Glu1202Ter)

SNV
Unknown

Chr1:99902698

Likely pathogenic

Glycogen storage disease type III

Criteria Provided
Single Submitter

CA341334319

rs_2523734375

1 SubmittersRCV002310348

NM_000642.3(AGL):c.4204G>T (p.Glu1402Ter)

SNV
Unknown

Chr1:99915431

Likely pathogenic

Glycogen storage disease type III

Criteria Provided
Single Submitter

CA341341139

rs_2523845915

1 SubmittersRCV002310396

NM_000642.3(AGL):c.2740G>T (p.Glu914Ter)

SNV
Unknown

Chr1:99888036

Likely pathogenic

Glycogen storage disease type III

Criteria Provided
Single Submitter

CA341323025

rs_2524699735

1 SubmittersRCV002308463

NM_000642.3(AGL):c.2707G>T (p.Glu903Ter)

SNV
Germline

Chr1:99888003

Pathogenic

Glycogen storage disease type III

Criteria Provided
Single Submitter

CA341322856

rs_2100778885

1 SubmittersRCV002638525

NM_000642.3(AGL):c.655A>G (p.Asn219Asp)

SNV
Germline

Chr1:99864580

Conflicting classifications of pathogenicity

Glycogen storage disease type III

Criteria Provided
Conflicting Classifications

CA341337129

rs_1332399736

2 SubmittersRCV002648184

NM_000642.3(AGL):c.2682-8A>G

SNV
Germline

Chr1:99887970

Pathogenic

Glycogen storage disease type III

Criteria Provided
Single Submitter

CA524708591

rs_1249051895

1 SubmittersRCV002648186

NM_000642.3(AGL):c.3299G>A (p.Gly1100Glu)

SNV
Germline

Chr1:99896325

Pathogenic

Glycogen storage disease type III

Criteria Provided
Single Submitter

CA341328552

rs_2524757411

1 SubmittersRCV002648188

NM_000642.3(AGL):c.4284T>G (p.Tyr1428Ter)

SNV
Germline

Chr1:99916434

Pathogenic

Glycogen storage disease type III

Criteria Provided
Multiple Submitters
No Conflicts

CA341342237

rs_2523861493

2 SubmittersRCV002648189

NM_000642.3(AGL):c.1758T>C (p.Ser586=)

SNV
Germline

Chr1:99880654

Conflicting classifications of pathogenicity

Glycogen storage disease type III

Criteria Provided
Conflicting Classifications

CA419080598

rs_1402386421

2 SubmittersRCV002632835

NM_000642.3(AGL):c.1218T>G (p.Tyr406Ter)

SNV
Germline

Chr1:99875390

Pathogenic

Glycogen storage disease type III

Criteria Provided
Single Submitter

CA341345340

rs_200607707

1 SubmittersRCV003110674

NM_000642.3(AGL):c.1283+2T>C

SNV
Germline

Chr1:99875457

Likely pathogenic

Glycogen storage disease type III

Criteria Provided
Multiple Submitters
No Conflicts

CA341345729

rs_2524602554

2 SubmittersRCV002584046

NM_000642.3(AGL):c.4260-2A>C

SNV
Germline

Chr1:99916408

Pathogenic

Glycogen storage disease type III

Criteria Provided
Single Submitter

CA341342152

rs_2523860788

1 SubmittersRCV002755089

NM_000642.3(AGL):c.3700+2T>C

SNV
Germline

Chr1:99902796

Likely pathogenic

Glycogen storage disease type III

Criteria Provided
Single Submitter

CA341335430

rs_2523736429

1 SubmittersRCV002814903

NM_000642.3(AGL):c.293+1G>T

SNV
Germline

Chr1:99861714

Pathogenic/Likely pathogenic

Glycogen storage disease type III

Criteria Provided
Multiple Submitters
No Conflicts

CA341330249

rs_946922101

2 SubmittersRCV002815151

NM_000642.3(AGL):c.3084-1G>A

SNV
Germline

Chr1:99892431

Likely pathogenic

Glycogen storage disease type III

Criteria Provided
Multiple Submitters
No Conflicts

CA341326457

rs_1440105689

2 SubmittersRCV002862966

NM_000642.3(AGL):c.2458C>T (p.Gln820Ter)

SNV
Germline

Chr1:99884363

Pathogenic

Glycogen storage disease type III

Criteria Provided
Single Submitter

CA341321102

rs_2524674636

1 SubmittersRCV002876521

NM_000642.3(AGL):c.3549T>G (p.Tyr1183Ter)

SNV
Germline

Chr1:99900822

Pathogenic

Glycogen storage disease type III

Criteria Provided
Single Submitter

CA341332589

rs_2523716613

1 SubmittersRCV002904583

NM_000642.3(AGL):c.2158-1G>T

SNV
Germline

Chr1:99881540

Likely pathogenic

Glycogen storage disease type III

Criteria Provided
Single Submitter

CA341319570

rs_886043990

1 SubmittersRCV003002906

NM_000642.3(AGL):c.4250T>A (p.Leu1417Ter)

SNV
Germline

Chr1:99915477

Pathogenic

Glycogen storage disease type III

Criteria Provided
Single Submitter

CA341341489

rs_1655047525

1 SubmittersRCV003031452

NM_000642.3(AGL):c.654C>A (p.Tyr218Ter)

SNV
Germline

Chr1:99864579

Pathogenic

Glycogen storage disease type III

Criteria Provided
Single Submitter

CA341337112

rs_2524518453

1 SubmittersRCV003022378

NM_000642.3(AGL):c.82+1G>T

SNV
Germline

Chr1:99851125

Likely pathogenic

Glycogen storage disease type III

Criteria Provided
Single Submitter

CA341323912

rs_1354714214

1 SubmittersRCV003034738

NM_000642.3(AGL):c.2681+2T>G

SNV
Germline

Chr1:99884705

Pathogenic

Glycogen storage disease type III

Criteria Provided
Single Submitter

CA341322197

rs_2524678291

1 SubmittersRCV003057914

NM_000642.3(AGL):c.4562C>T (p.Ser1521Leu)

SNV
Germline

Chr1:99921614

Likely pathogenic

Glycogen storage disease type III

Criteria Provided
Single Submitter

CA341343867

rs_2523917477

1 SubmittersRCV003233383

NM_000642.3(AGL):c.4260-1G>A

SNV
Germline

Chr1:99916409

Likely pathogenic

Glycogen storage disease type III

Criteria Provided
Single Submitter

CA341342155

rs_1360640311

1 SubmittersRCV003340990

NM_000642.3(AGL):c.889A>T (p.Lys297Ter)

SNV
Germline

Chr1:99870800

Pathogenic

Glycogen storage disease type III

Criteria Provided
Single Submitter

CA341341484

rs_2101113398

1 SubmittersRCV003444043

NM_000642.3(AGL):c.3302G>A (p.Arg1101Lys)

SNV
Germline

Chr1:99896328

Likely pathogenic

Glycogen storage disease type III

Criteria Provided
Single Submitter

CA341328557

rs_2524757462

1 SubmittersRCV003444044

NM_006796.3(AFG3L2):c.1714G>A (p.Ala572Thr)

SNV
Germline

Chr18:12344197

Conflicting classifications of pathogenicity

Spastic ataxia 5
Glycogen storage disease type III
Optic atrophy 12

Criteria Provided
Conflicting Classifications

CA8896420

rs_562861748

3 SubmittersRCV003447707 RCV004527457 RCV003988116

NM_000642.3(AGL):c.2207C>A (p.Ser736Ter)

SNV
Unknown

Chr1:99881590

Likely pathogenic

Glycogen storage disease type III

Criteria Provided
Single Submitter

CA341319840

rs_1385878017

1 SubmittersRCV003459950

NM_000642.3(AGL):c.557C>G (p.Ser186Ter)

SNV
Unknown

Chr1:99864482

Likely pathogenic

Glycogen storage disease type III

Criteria Provided
Single Submitter

CA341335812

rs_2524517172

1 SubmittersRCV003459951

NM_000642.3(AGL):c.1447G>T (p.Glu483Ter)

SNV
Unknown

Chr1:99877664

Likely pathogenic

Glycogen storage disease type III

Criteria Provided
Single Submitter

CA341314519

rs_2524620506

1 SubmittersRCV003466141

NM_000642.3(AGL):c.3091C>T (p.Gln1031Ter)

SNV
Germline

Chr1:99892439

Pathogenic/Likely pathogenic

Glycogen storage disease type III

Criteria Provided
Multiple Submitters
No Conflicts

CA966978

rs_539108137

2 SubmittersRCV003466156

NM_000642.3(AGL):c.4490G>A (p.Trp1497Ter)

SNV
Unknown

Chr1:99921542

Pathogenic

Glycogen storage disease type III

Criteria Provided
Single Submitter

CA341343381

rs_2523915699

1 SubmittersRCV003466165

NM_000642.3(AGL):c.2546+1G>T

SNV
Unknown

Chr1:99884452

Pathogenic

Glycogen storage disease type III

Criteria Provided
Single Submitter

CA341321465

rs_1652293307

1 SubmittersRCV003466176

NM_000642.3(AGL):c.3083+1G>T

SNV
Unknown

Chr1:99891740

Likely pathogenic

Glycogen storage disease type III

Criteria Provided
Single Submitter

CA341326411

rs_2100790188

1 SubmittersRCV003466180

NM_000642.3(AGL):c.1148C>G (p.Ser383Ter)

SNV
Germline

Chr1:99875219

Pathogenic/Likely pathogenic

Glycogen storage disease type III

Criteria Provided
Multiple Submitters
No Conflicts

CA341344797

rs_1651412496

2 SubmittersRCV003459969

NM_000642.3(AGL):c.665-2A>G

SNV
Unknown

Chr1:99870398

Likely pathogenic

Glycogen storage disease type III

Criteria Provided
Single Submitter

CA341338999

rs_2524558233

1 SubmittersRCV003459974

NM_000642.3(AGL):c.3949+1G>C

SNV
Germline

Chr1:99912518

Likely pathogenic

Glycogen storage disease type III

Criteria Provided
Multiple Submitters
No Conflicts

CA341339203

rs_1311320845

2 SubmittersRCV003468491

NM_000642.3(AGL):c.2812+1G>C

SNV
Unknown

Chr1:99888109

Likely pathogenic

Glycogen storage disease type III

Criteria Provided
Single Submitter

CA341323336

rs_2524700686

1 SubmittersRCV003468495

NM_000642.3(AGL):c.2989C>T (p.Gln997Ter)

SNV
Unknown

Chr1:99891645

Likely pathogenic

Glycogen storage disease type III

Criteria Provided
Single Submitter

CA341325854

rs_1185515418

1 SubmittersRCV003468529

NM_000642.3(AGL):c.83-2A>G

SNV
Unknown

Chr1:99861501

Likely pathogenic

Glycogen storage disease type III

Criteria Provided
Single Submitter

CA341328798

rs_2524490940

1 SubmittersRCV003475729

NM_000642.3(AGL):c.3701-2A>G

SNV
Unknown

Chr1:99910710

Likely pathogenic

Glycogen storage disease type III

Criteria Provided
Single Submitter

CA341337114

rs_767074769

1 SubmittersRCV003475745

NM_000642.3(AGL):c.1284-1G>A

SNV
Unknown

Chr1:99876457

Likely pathogenic

Glycogen storage disease type III

Criteria Provided
Single Submitter

CA341345764

rs_1651537100

1 SubmittersRCV003475746

NM_000642.3(AGL):c.743G>A (p.Trp248Ter)

SNV
Unknown

Chr1:99870478

Likely pathogenic

Glycogen storage disease type III

Criteria Provided
Single Submitter

CA341339675

rs_2524559110

1 SubmittersRCV003475779

NM_000642.3(AGL):c.3972T>G (p.Tyr1324Ter)

SNV
Unknown

Chr1:99913549

Likely pathogenic

Glycogen storage disease type III

Criteria Provided
Single Submitter

CA341339422

rs_768746665

1 SubmittersRCV003475792

NM_000642.3(AGL):c.1423+1G>A

SNV
Unknown

Chr1:99876598

Pathogenic

Glycogen storage disease type III

Criteria Provided
Single Submitter

CA341346839

rs_751952198

1 SubmittersRCV003475796

NM_000642.3(AGL):c.958+1G>C

SNV
Unknown

Chr1:99870870

Likely pathogenic

Glycogen storage disease type III

Criteria Provided
Single Submitter

CA341341938

rs_1553184657

1 SubmittersRCV003475803

NM_000642.3(AGL):c.538G>T (p.Glu180Ter)

SNV
Unknown

Chr1:99864463

Likely pathogenic

Glycogen storage disease type III

Criteria Provided
Single Submitter

CA341335596

rs_2524517066

1 SubmittersRCV003468615

NM_000642.3(AGL):c.1517G>A (p.Trp506Ter)

SNV
Unknown

Chr1:99877734

Likely pathogenic

Glycogen storage disease type III

Criteria Provided
Single Submitter

CA341314687

rs_2524621430

1 SubmittersRCV003468644

NM_000642.3(AGL):c.3259+1G>C

SNV
Unknown

Chr1:99892608

Likely pathogenic

Glycogen storage disease type III

Criteria Provided
Single Submitter

CA341327373

rs_1394576194

1 SubmittersRCV003468650

NM_000642.3(AGL):c.1637T>A (p.Leu546Ter)

SNV
Germline

Chr1:99879948

Pathogenic/Likely pathogenic

Glycogen storage disease type III

Criteria Provided
Multiple Submitters
No Conflicts

CA341315464

rs_2524635932

2 SubmittersRCV003468659

NM_000642.3(AGL):c.82+1G>C

SNV
Germline

Chr1:99851125

Likely pathogenic

Glycogen storage disease type III

Criteria Provided
Single Submitter

CA341323915

rs_1354714214

1 SubmittersRCV003517935

NM_000642.3(AGL):c.1611+2T>G

SNV
Germline

Chr1:99877830

Likely pathogenic

Glycogen storage disease type III

Criteria Provided
Single Submitter

CA341314898

rs_2524622671

1 SubmittersRCV003518552

NM_000642.3(AGL):c.643G>A (p.Asp215Asn)

SNV
Germline

Chr1:99864568

Likely pathogenic

Glycogen storage disease type III

Criteria Provided
Single Submitter

CA341336278

rs_2524518337

1 SubmittersRCV003518731

NM_000642.3(AGL):c.2546+1G>A

SNV
Germline

Chr1:99884452

Pathogenic

Glycogen storage disease type III

Criteria Provided
Single Submitter

CA341321461

rs_1652293307

1 SubmittersRCV003518733

NM_000642.3(AGL):c.3588+1G>A

SNV
Germline

Chr1:99900862

Pathogenic

Glycogen storage disease type III

Criteria Provided
Single Submitter

CA341333069

rs_1397237820

1 SubmittersRCV003518735

NM_000642.3(AGL):c.4161+5G>A

SNV
Germline

Chr1:99913743

Pathogenic

Glycogen storage disease type III

Criteria Provided
Single Submitter

CA2586967107

rs_1293110437

1 SubmittersRCV003518736

NM_000642.3(AGL):c.4260-1G>T

SNV
Germline

Chr1:99916409

Pathogenic

Glycogen storage disease type III

Criteria Provided
Single Submitter

CA341342157

rs_1360640311

1 SubmittersRCV003518737

NM_000642.3(AGL):c.82+2T>G

SNV
Germline

Chr1:99851126

Likely pathogenic

Glycogen storage disease type III

Criteria Provided
Single Submitter

CA341323924

rs_2524407451

1 SubmittersRCV003516818

NM_000642.3(AGL):c.2001+1G>T

SNV
Germline

Chr1:99881178

Likely pathogenic

Glycogen storage disease type III

Criteria Provided
Single Submitter

CA341318372

rs_2524649123

1 SubmittersRCV003517004

NM_000642.3(AGL):c.4162-2A>T

SNV
Germline

Chr1:99915387

Likely pathogenic

Glycogen storage disease type III

Criteria Provided
Single Submitter

CA341340748

rs_1570514784

1 SubmittersRCV003517831

NM_000642.3(AGL):c.4116G>A (p.Trp1372Ter)

SNV
Germline

Chr1:99913693

Pathogenic

Glycogen storage disease type III

Criteria Provided
Single Submitter

CA341340208

rs_2523826385

1 SubmittersRCV003517835

NM_000642.3(AGL):c.2157+1G>T

SNV
Germline

Chr1:99881448

Pathogenic

Glycogen storage disease type III

Criteria Provided
Single Submitter

CA341319533

rs_2524652589

1 SubmittersRCV003517711

NM_000642.3(AGL):c.388C>T (p.Gln130Ter)

SNV
Germline

Chr1:99862351

Pathogenic

Glycogen storage disease type III

Criteria Provided
Single Submitter

CA341331824

rs_1223038627

1 SubmittersRCV003633963

NM_000642.3(AGL):c.3003C>A (p.Tyr1001Ter)

SNV
Germline

Chr1:99891659

Pathogenic

Glycogen storage disease type III

Criteria Provided
Single Submitter

CA341325955

rs_2524724346

1 SubmittersRCV003634738

NM_000642.3(AGL):c.3871A>T (p.Lys1291Ter)

SNV
Germline

Chr1:99912439

Pathogenic

Glycogen storage disease type III

Criteria Provided
Single Submitter

CA341338755

rs_2523812274

1 SubmittersRCV003634951

NM_000642.3(AGL):c.3470G>A (p.Trp1157Ter)

SNV
Germline

Chr1:99900743

Pathogenic

Glycogen storage disease type III

Criteria Provided
Single Submitter

CA341331571

rs_2523715511

1 SubmittersRCV003635061

NM_000642.3(AGL):c.2221C>T (p.Gln741Ter)

SNV
Germline

Chr1:99881604

Pathogenic

Glycogen storage disease type III

Criteria Provided
Single Submitter

CA341319880

rs_2524654201

1 SubmittersRCV003635216

NM_000642.3(AGL):c.4339C>T (p.Gln1447Ter)

SNV
Germline

Chr1:99916489

Pathogenic

Glycogen storage disease type III

Criteria Provided
Single Submitter

CA341342360

rs_1655124681

1 SubmittersRCV003635324

NM_000642.3(AGL):c.1183C>T (p.Gln395Ter)

SNV
Germline

Chr1:99875254

Pathogenic

Glycogen storage disease type III

Criteria Provided
Single Submitter

CA341344961

rs_2524600117

1 SubmittersRCV003634292

NM_000642.3(AGL):c.2308+2T>A

SNV
Germline

Chr1:99881693

Likely pathogenic

Glycogen storage disease type III

Criteria Provided
Single Submitter

CA341320074

rs_1652044207

1 SubmittersRCV003852541

NM_000642.3(AGL):c.808G>T (p.Gly270Ter)

SNV
Germline

Chr1:99870543

Pathogenic/Likely pathogenic

Glycogen storage disease type III

Criteria Provided
Multiple Submitters
No Conflicts

CA341340235

rs_1650900557

2 SubmittersRCV003864827

NM_000642.3(AGL):c.1972A>T (p.Arg658Ter)

SNV
Germline

Chr1:99881148

Pathogenic

Glycogen storage disease type III

Criteria Provided
Single Submitter

CA341318203

rs_1173312923

1 SubmittersRCV003882543

NM_006796.3(AFG3L2):c.1586C>T (p.Ala529Val)

SNV
Germline

Chr18:12348350

Likely pathogenic

Glycogen storage disease type III

Criteria Provided
Single Submitter

CA401951510

rs_1438358338

1 SubmittersRCV003990619

NM_000642.3(AGL):c.1788T>A (p.Tyr596Ter)

SNV
Germline

Chr1:99880684

Pathogenic

Glycogen storage disease type III

Criteria Provided
Single Submitter

CA341316501

rs_777871903

1 SubmittersRCV004555734

NM_000642.3(AGL):c.2493T>A (p.Tyr831Ter)

SNV
Germline

Chr1:99884398

Likely pathogenic

Glycogen storage disease type III

Criteria Provided
Single Submitter

rs_2524675114

1 SubmittersRCV004576139

NM_000642.3(AGL):c.1427C>G (p.Ser476Ter)

SNV
Unknown

Chr1:99877644

Likely pathogenic

Glycogen storage disease type III

Criteria Provided
Single Submitter

rs_2524620234

1 SubmittersRCV004575622

NM_000642.3(AGL):c.3136C>T (p.Gln1046Ter)

SNV
Unknown

Chr1:99892484

Likely pathogenic

Glycogen storage disease type III

Criteria Provided
Single Submitter

rs_2524731432

1 SubmittersRCV004575633

NM_000642.3(AGL):c.1177C>T (p.Gln393Ter)

SNV
Unknown

Chr1:99875248

Pathogenic

Glycogen storage disease type III

Criteria Provided
Single Submitter

rs_2524600033

1 SubmittersRCV004575666

NM_000642.3(AGL):c.458C>G (p.Ser153Ter)

SNV
Germline

Chr1:99862421

Pathogenic

Glycogen storage disease type III

Criteria Provided
Single Submitter

1 SubmittersRCV004783400

NM_000642.3(AGL):c.4481+1G>T

SNV
Germline

Chr1:99916732

Pathogenic

Glycogen storage disease type III

Criteria Provided
Single Submitter

1 SubmittersRCV005125256

NM_000642.3(AGL):c.3018C>G (p.Tyr1006Ter)

SNV
Germline

Chr1:99891674

Pathogenic

Glycogen storage disease type III

Criteria Provided
Single Submitter

1 SubmittersRCV005123076

NM_000642.3(AGL):c.958+2T>C

SNV
Germline

Chr1:99870871

Likely pathogenic

Glycogen storage disease type III

Criteria Provided
Single Submitter

1 SubmittersRCV005120936

NM_000642.3(AGL):c.4125T>A (p.Tyr1375Ter)

SNV
Germline

Chr1:99913702

Pathogenic

Glycogen storage disease type III

Criteria Provided
Single Submitter

1 SubmittersRCV005128155

NM_000642.3(AGL):c.488T>A (p.Leu163Ter)

SNV
Germline

Chr1:99864413

Pathogenic

Glycogen storage disease type III

Criteria Provided
Single Submitter

1 SubmittersRCV005134215

NM_000642.3(AGL):c.40G>T (p.Glu14Ter)

SNV
Germline

Chr1:99851082

Pathogenic

Glycogen storage disease type III

Criteria Provided
Single Submitter

1 SubmittersRCV005137338

NM_000642.3(AGL):c.2320G>T (p.Glu774Ter)

SNV
Germline

Chr1:99884131

Pathogenic

Glycogen storage disease type III

Criteria Provided
Single Submitter

1 SubmittersRCV005141916

NM_000642.3(AGL):c.1735+1G>A

SNV
Germline

Chr1:99880047

Pathogenic

Glycogen storage disease type III

Criteria Provided
Single Submitter

1 SubmittersRCV005198039

NM_000642.3(AGL):c.4259+2T>C

SNV
Germline

Chr1:99915488

Likely pathogenic

Glycogen storage disease type III

Criteria Provided
Single Submitter

1 SubmittersRCV005238573

NM_000642.3(AGL):c.1119G>A (p.Trp373Ter)

SNV
Germline

Chr1:99875190

Likely pathogenic

Glycogen storage disease type III

Criteria Provided
Single Submitter

1 SubmittersRCV005360201

NM_000642.3(AGL):c.3351T>G (p.Tyr1117Ter)

SNV
Germline

Chr1:99896377

Likely pathogenic

Glycogen storage disease type III

Criteria Provided
Single Submitter

1 SubmittersRCV005410094

NM_000642.3(AGL):c.259C>T (p.Gln87Ter)

SNV
Germline

Chr1:99861679

Likely pathogenic

Glycogen storage disease type III

Criteria Provided
Single Submitter

1 SubmittersRCV005410389

NM_000642.3(AGL):c.1274T>A (p.Leu425Ter)

SNV
Germline

Chr1:99875446

Likely pathogenic

Glycogen storage disease type III

Criteria Provided
Single Submitter

1 SubmittersRCV005410390

NM_000642.3(AGL):c.2157+1G>A

SNV
Germline

Chr1:99881448

Likely pathogenic

Glycogen storage disease type III

Criteria Provided
Single Submitter

1 SubmittersRCV005417377

NM_000642.3(AGL):c.4037C>A (p.Ser1346Ter)

SNV
Germline

Chr1:99913614

Likely pathogenic

Glycogen storage disease type III

No Assertion Criteria Provided

1 SubmittersRCV005619618