Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_019109.5(ALG1):c.773C>T (p.Ser258Leu)	SNV Germline	Chr16:5078789	Pathogenic/Likely pathogenic	ALG1-congenital disorder of glycosylation Condition: not provided Inborn genetic diseases Congenital disorder of glycosylation Finnish congenital nephrotic syndrome Encephalopathy ALG12-congenital disorder of glycosylation	Criteria Provided Multiple Submitters No Conflicts	CA223556	rs_28939378	20 SubmittersRCV000004989 RCV000081987 RCV000210565 RCV000606536 RCV000655875 RCV001526585 RCV003483423
NM_019109.5(ALG1):c.1025A>C (p.Gln342Pro)	SNV Germline	Chr16:5081009	Pathogenic/Likely pathogenic	ALG1-congenital disorder of glycosylation Condition: not provided Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA277940	rs_267606651	4 SubmittersRCV000004990 RCV001091535 RCV002512789
NM_019109.5(ALG1):c.450C>G (p.Ser150Arg)	SNV Germline	Chr16:5075447	Pathogenic	ALG1-congenital disorder of glycosylation	Criteria Provided Single Submitter	CA277941	rs_121908340	2 SubmittersRCV000004991
NM_019109.5(ALG1):c.434G>A (p.Gly145Asp)	SNV Germline	Chr16:5075431	Conflicting classifications of pathogenicity	ALG1-congenital disorder of glycosylation not specified	Criteria Provided Conflicting Classifications	CA277972	rs_387906926	4 SubmittersRCV000023494 RCV005237408
NM_019109.5(ALG1):c.1188T>A (p.Cys396Ter)	SNV Germline	Chr16:5083682	Pathogenic	ALG1-congenital disorder of glycosylation	No Assertion Criteria Provided	CA277974	rs_387906927	1 SubmittersRCV000023495
NM_019109.5(ALG1):c.826C>T (p.Arg276Trp)	SNV Germline	Chr16:5078842	Pathogenic/Likely pathogenic	ALG1-congenital disorder of glycosylation Congenital disorder of glycosylation Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA277976	rs_151173406	7 SubmittersRCV000023496 RCV000851250 RCV001562717
NM_019109.5(ALG1):c.1037C>G (p.Pro346Arg)	SNV Germline	Chr16:5081021	Conflicting classifications of pathogenicity	Condition: not provided ALG1-congenital disorder of glycosylation	Criteria Provided Conflicting Classifications	CA223549	rs_398124347	2 SubmittersRCV000081980 RCV001390958
NM_019109.5(ALG1):c.1079C>T (p.Ala360Val)	SNV Germline	Chr16:5082565	Pathogenic/Likely pathogenic	Condition: not provided Inborn genetic diseases Congenital disorder of glycosylation ALG1-congenital disorder of glycosylation	Criteria Provided Multiple Submitters No Conflicts	CA223551	rs_398124348	7 SubmittersRCV000081981 RCV000210723 RCV000851230 RCV001795148
NM_019109.5(ALG1):c.1162C>T (p.Pro388Ser)	SNV Germline	Chr16:5082648	Conflicting classifications of pathogenicity	Condition: not provided Congenital disorder of glycosylation ALG1-congenital disorder of glycosylation	Criteria Provided Conflicting Classifications	CA223553	rs_398124349	4 SubmittersRCV000081983 RCV000851242 RCV001857394
NM_019109.5(ALG1):c.1187+1G>A	SNV Germline	Chr16:5082674	Pathogenic/Likely pathogenic	Condition: not provided ALG1-congenital disorder of glycosylation Congenital disorder of glycosylation	Criteria Provided Multiple Submitters No Conflicts	CA223555	rs_374928784	6 SubmittersRCV000081984 RCV002505001 RCV000851244
NC_000016.10:g.5071998A>G	SNV Germline	Chr16:5071998	Conflicting classifications of pathogenicity	Condition: not provided Congenital disorder of glycosylation ALG1-congenital disorder of glycosylation	Criteria Provided Conflicting Classifications	CA238947	rs_794726944	6 SubmittersRCV000173488 RCV000851229 RCV001089972
NM_019109.5(ALG1):c.15C>A (p.Cys5Ter)	SNV Germline	Chr16:5071864	Pathogenic	Condition: not provided Congenital disorder of glycosylation ALG1-congenital disorder of glycosylation	Criteria Provided Multiple Submitters No Conflicts	CA277993	rs_752922461	3 SubmittersRCV000173489 RCV000851233 RCV002500456
NM_019109.5(ALG1):c.208+13G>A	SNV Germline	Chr16:5072070	Conflicting classifications of pathogenicity	Condition: not provided ALG1-congenital disorder of glycosylation	Criteria Provided Conflicting Classifications	CA238949	rs_794726945	2 SubmittersRCV000173490 RCV002054050
NM_019109.5(ALG1):c.19G>A (p.Val7Ile)	SNV Germline	Chr16:5071868	Conflicting classifications of pathogenicity	Condition: not provided ALG1-congenital disorder of glycosylation	Criteria Provided Conflicting Classifications	CA238950	rs_199891552	2 SubmittersRCV000173492 RCV002054051
NM_019109.5(ALG1):c.1188-2A>G	SNV Germline	Chr16:5083680	Pathogenic/Likely pathogenic	Condition: not provided Congenital disorder of glycosylation ALG1-congenital disorder of glycosylation	Criteria Provided Multiple Submitters No Conflicts	CA277995	rs_794727073	4 SubmittersRCV000174389 RCV000851245 RCV002478562
NM_019109.5(ALG1):c.262T>G (p.Leu88Val)	SNV Germline	Chr16:5073004	Conflicting classifications of pathogenicity	Condition: not provided Congenital disorder of glycosylation ALG1-congenital disorder of glycosylation	Criteria Provided Conflicting Classifications	CA277996	rs_794727301	3 SubmittersRCV000175915 RCV000851232 RCV001852160
NM_019109.5(ALG1):c.1187+3A>G	SNV Germline	Chr16:5082676	Pathogenic/Likely pathogenic	Condition: not provided ALG1-related disorder ALG1-congenital disorder of glycosylation Encephalopathy Congenital disorder of glycosylation type I Congenital disorder of glycosylation	Criteria Provided Multiple Submitters No Conflicts	CA211937	rs_369160589	14 SubmittersRCV000413040 RCV003417756 RCV000209837 RCV001526586 RCV003225934 RCV000851246
NM_019109.5(ALG1):c.1072G>C (p.Gly358Arg)	SNV Germline	Chr16:5081056	Conflicting classifications of pathogenicity	Condition: not provided Congenital disorder of glycosylation ALG1-congenital disorder of glycosylation	Criteria Provided Conflicting Classifications	CA10604629	rs_886042742	3 SubmittersRCV000342123 RCV000851247 RCV005008241
NM_019109.5(ALG1):c.682G>T (p.Asp228Tyr)	SNV Germline	Chr16:5077959	Conflicting classifications of pathogenicity	Condition: not provided ALG1-congenital disorder of glycosylation	Criteria Provided Conflicting Classifications	CA7889959	rs_145158686	2 SubmittersRCV000386682 RCV001467992
NM_019109.5(ALG1):c.1150G>C (p.Gly384Arg)	SNV Germline	Chr16:5082636	Conflicting classifications of pathogenicity	Condition: not provided ALG1-congenital disorder of glycosylation	Criteria Provided Conflicting Classifications	CA16603253	rs_1057520122	2 SubmittersRCV000443869 RCV005431652
NM_019109.5(ALG1):c.1342C>T (p.Arg448Ter)	SNV Germline	Chr16:5084828	Likely pathogenic	Condition: not provided ALG1-congenital disorder of glycosylation	Criteria Provided Multiple Submitters No Conflicts	CA7890343	rs_1047747	2 SubmittersRCV000430761 RCV000808344
NM_019109.5(ALG1):c.304C>T (p.Gln102Ter)	SNV Germline	Chr16:5073170	Pathogenic/Likely pathogenic	Condition: not provided ALG1-congenital disorder of glycosylation	Criteria Provided Multiple Submitters No Conflicts	CA7889780	rs_780107088	3 SubmittersRCV000498030 RCV000801713
NM_019109.5(ALG1):c.827G>A (p.Arg276Gln)	SNV Germline	Chr16:5078843	Conflicting classifications of pathogenicity	ALG1-congenital disorder of glycosylation Condition: not provided ALG1-related disorder	Criteria Provided Conflicting Classifications	CA7890038	rs_201975029	6 SubmittersRCV000555504 RCV001556239 RCV003915589
NM_019109.5(ALG1):c.823G>T (p.Glu275Ter)	SNV Germline	Chr16:5078839	Pathogenic/Likely pathogenic	Condition: not provided ALG1-congenital disorder of glycosylation	Criteria Provided Multiple Submitters No Conflicts	CA394681822	rs_1372794201	4 SubmittersRCV000598555 RCV001796133
NM_019109.5(ALG1):c.876C>G (p.Phe292Leu)	SNV Germline	Chr16:5079077	Likely pathogenic	ALG1-congenital disorder of glycosylation	Criteria Provided Single Submitter	CA394681943	rs_1009298200	1 SubmittersRCV000625978
NM_019109.5(ALG1):c.877T>C (p.Ser293Pro)	SNV Germline	Chr16:5079078	Likely pathogenic	ALG1-congenital disorder of glycosylation	Criteria Provided Single Submitter	CA394681944	rs_1555452127	1 SubmittersRCV000625977
NM_019109.5(ALG1):c.863-2A>G	SNV Germline	Chr16:5079062	Likely pathogenic	ALG1-congenital disorder of glycosylation	Criteria Provided Multiple Submitters No Conflicts	CA7890067	rs_768733117	2 SubmittersRCV000704546
NM_019109.5(ALG1):c.652C>T (p.Pro218Ser)	SNV Germline	Chr16:5077929	Conflicting classifications of pathogenicity	ALG1-congenital disorder of glycosylation not specified	Criteria Provided Conflicting Classifications	CA7889951	rs_528261173	3 SubmittersRCV000758003 RCV004782538
NM_019109.5(ALG1):c.212C>T (p.Ser71Phe)	SNV Germline	Chr16:5072954	Pathogenic/Likely pathogenic	Congenital disorder of glycosylation ALG1-congenital disorder of glycosylation	Criteria Provided Multiple Submitters No Conflicts	CA7889727	rs_200605408	3 SubmittersRCV000851227 RCV001858479
NM_019109.5(ALG1):c.293C>T (p.Pro98Leu)	SNV Germline	Chr16:5073159	Pathogenic	Congenital disorder of glycosylation ALG1-congenital disorder of glycosylation	Criteria Provided Single Submitter	CA394679810	rs_1596252105	2 SubmittersRCV000851226 RCV003502554
NM_019109.5(ALG1):c.450C>A (p.Ser150Arg)	SNV Germline	Chr16:5075447	Pathogenic	Congenital disorder of glycosylation ALG1-congenital disorder of glycosylation	Criteria Provided Single Submitter	CA394680420	rs_121908340	2 SubmittersRCV000851238 RCV001869290
NM_019109.5(ALG1):c.841G>T (p.Val281Phe)	SNV Germline	Chr16:5078857	Pathogenic/Likely pathogenic	Congenital disorder of glycosylation ALG1-congenital disorder of glycosylation	Criteria Provided Multiple Submitters No Conflicts	CA394681849	rs_553396382	3 SubmittersRCV000851225 RCV001858478
NM_019109.5(ALG1):c.866A>G (p.Asp289Gly)	SNV Germline	Chr16:5079067	Likely pathogenic	Congenital disorder of glycosylation ALG1-congenital disorder of glycosylation	Criteria Provided Multiple Submitters No Conflicts	CA394681919	rs_1180515976	3 SubmittersRCV000851222 RCV001377315
NM_019109.5(ALG1):c.1057T>G (p.Tyr353Asp)	SNV Germline	Chr16:5081041	Conflicting classifications of pathogenicity	Congenital disorder of glycosylation ALG1-congenital disorder of glycosylation	Criteria Provided Conflicting Classifications	CA394673107	rs_1596259672	3 SubmittersRCV000851243 RCV001858482
NM_019109.5(ALG1):c.1076C>T (p.Ser359Leu)	SNV Germline	Chr16:5082562	Pathogenic	Congenital disorder of glycosylation ALG1-congenital disorder of glycosylation Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA394673720	rs_1299775990	4 SubmittersRCV000851234 RCV002538359 RCV005054278
NM_019109.5(ALG1):c.1097T>A (p.Leu366Gln)	SNV Germline	Chr16:5082583	Pathogenic	Congenital disorder of glycosylation ALG1-congenital disorder of glycosylation	Criteria Provided Single Submitter	CA394673797	rs_1596261208	2 SubmittersRCV000851237 RCV001809863
NM_019109.5(ALG1):c.1150G>A (p.Gly384Arg)	SNV Germline	Chr16:5082636	Conflicting classifications of pathogenicity	Congenital disorder of glycosylation ALG1-congenital disorder of glycosylation	Criteria Provided Conflicting Classifications	CA394673908	rs_1057520122	4 SubmittersRCV000851249 RCV001858483
NM_019109.5(ALG1):c.1312C>T (p.Arg438Trp)	SNV Germline	Chr16:5084798	Pathogenic	Congenital disorder of glycosylation ALG1-congenital disorder of glycosylation Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA277165747	rs_16835020	6 SubmittersRCV000851223 RCV001858477 RCV002538358
NM_019109.5(ALG1):c.961+1G>C	SNV Germline	Chr16:5079808	Likely pathogenic	Congenital disorder of glycosylation ALG1-congenital disorder of glycosylation	Criteria Provided Single Submitter	CA7890123	rs_373355236	2 SubmittersRCV000851241 RCV001858481
NM_019109.5(ALG1):c.522C>T (p.Leu174=)	SNV Germline	Chr16:5075519	Conflicting classifications of pathogenicity	ALG1-congenital disorder of glycosylation Condition: not provided	Criteria Provided Conflicting Classifications	CA7889853	rs_776753482	2 SubmittersRCV001858598 RCV005251240
NM_019109.5(ALG1):c.993C>T (p.Arg331=)	SNV Germline	Chr16:5080977	Conflicting classifications of pathogenicity	ALG1-congenital disorder of glycosylation ALG1-related disorder	Criteria Provided Conflicting Classifications	CA7890164	rs_561385337	3 SubmittersRCV000889766 RCV003968102
NM_019109.5(ALG1):c.787C>T (p.Arg263Trp)	SNV Germline	Chr16:5078803	Conflicting classifications of pathogenicity	ALG1-congenital disorder of glycosylation Condition: not provided Inborn genetic diseases ALG1-related disorder	Criteria Provided Conflicting Classifications	CA7890019	rs_145317306	5 SubmittersRCV000981645 RCV001576674 RCV002550564 RCV004754667
NM_019109.5(ALG1):c.1036C>A (p.Pro346Thr)	SNV Germline	Chr16:5081020	Conflicting classifications of pathogenicity	ALG1-congenital disorder of glycosylation not specified	Criteria Provided Conflicting Classifications	CA7890174	rs_143676440	4 SubmittersRCV000989517 RCV001844253
NM_019109.5(ALG1):c.1145T>C (p.Met382Thr)	SNV Germline	Chr16:5082631	Pathogenic/Likely pathogenic	Condition: not provided ALG1-congenital disorder of glycosylation	Criteria Provided Multiple Submitters No Conflicts	CA394673896	rs_1596261268	3 SubmittersRCV001091536 RCV002497493
NM_019109.5(ALG1):c.95C>A (p.Ala32Asp)	SNV Germline	Chr16:5071944	Conflicting classifications of pathogenicity	ALG1-congenital disorder of glycosylation Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7889670	rs_376723766	2 SubmittersRCV001245204 RCV004978201
NM_019109.5(ALG1):c.946G>A (p.Val316Ile)	SNV Germline	Chr16:5079792	Conflicting classifications of pathogenicity	ALG1-congenital disorder of glycosylation	Criteria Provided Conflicting Classifications	CA7890118	rs_150272167	3 SubmittersRCV001262757
NM_019109.5(ALG1):c.1280T>G (p.Phe427Cys)	SNV Germline	Chr16:5084766	Likely pathogenic	ALG1-congenital disorder of glycosylation	No Assertion Criteria Provided	CA394674829	rs_1957090242	1 SubmittersRCV001310078
NM_019109.5(ALG1):c.1306C>T (p.Gln436Ter)	SNV Germline	Chr16:5084792	Conflicting classifications of pathogenicity	ALG1-congenital disorder of glycosylation	Criteria Provided Conflicting Classifications	CA394674882	rs_1261895166	2 SubmittersRCV001542367
NM_019109.5(ALG1):c.208+25G>T	SNV Germline	Chr16:5072082	Likely pathogenic	ALG1-congenital disorder of glycosylation	Criteria Provided Single Submitter		rs_1281948334	1 SubmittersRCV005253872
NM_019109.5(ALG1):c.1073-2A>G	SNV Germline	Chr16:5082557	Pathogenic	ALG1-congenital disorder of glycosylation	Criteria Provided Single Submitter	CA394673695	rs_1957033825	1 SubmittersRCV001783407
NM_019109.5(ALG1):c.339C>G (p.Tyr113Ter)	SNV Germline	Chr16:5073205	Pathogenic/Likely pathogenic	ALG1-related disorder ALG1-congenital disorder of glycosylation	Criteria Provided Multiple Submitters No Conflicts	CA7889792	rs_776990436	3 SubmittersRCV003394252 RCV001785910
NM_019109.5(ALG1):c.991C>T (p.Arg331Cys)	SNV Germline	Chr16:5080975	Conflicting classifications of pathogenicity	ALG1-congenital disorder of glycosylation Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA7890162	rs_148933850	3 SubmittersRCV002077215 RCV004040821 RCV001786569
NM_019109.5(ALG1):c.560G>A (p.Arg187His)	SNV Germline	Chr16:5077465	Conflicting classifications of pathogenicity	ALG1-congenital disorder of glycosylation Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7889892	rs_377600706	4 SubmittersRCV001967816 RCV004043131
NM_019109.5(ALG1):c.815G>A (p.Arg272His)	SNV Germline	Chr16:5078831	Conflicting classifications of pathogenicity	ALG1-congenital disorder of glycosylation Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7890029	rs_560302928	3 SubmittersRCV001960373 RCV002562843
NM_019109.5(ALG1):c.209-2A>G	SNV Germline	Chr16:5072949	Likely pathogenic	ALG1-congenital disorder of glycosylation	Criteria Provided Multiple Submitters No Conflicts	CA7889726	rs_774618681	2 SubmittersRCV002003140
NM_019109.5(ALG1):c.1146G>A (p.Met382Ile)	SNV Germline	Chr16:5082632	Conflicting classifications of pathogenicity	ALG1-congenital disorder of glycosylation Congenital disorder of glycosylation not specified	Criteria Provided Conflicting Classifications	CA7890239	rs_778368053	3 SubmittersRCV001998830 RCV002227574 RCV003987953
NM_019109.5(ALG1):c.208+1G>C	SNV Germline	Chr16:5072058	Likely pathogenic	ALG1-congenital disorder of glycosylation	Criteria Provided Single Submitter	CA394678879	rs_1313166263	1 SubmittersRCV001975951
NM_019109.5(ALG1):c.932A>G (p.Asn311Ser)	SNV Germline	Chr16:5079778	Conflicting classifications of pathogenicity	ALG1-congenital disorder of glycosylation Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7890111	rs_549071467	2 SubmittersRCV001903350 RCV004975802
NM_019109.5(ALG1):c.598C>T (p.Arg200Ter)	SNV Germline	Chr16:5077503	Pathogenic/Likely pathogenic	ALG1-congenital disorder of glycosylation	Criteria Provided Multiple Submitters No Conflicts	CA394681347	rs_1474783444	3 SubmittersRCV001942071
NM_019109.5(ALG1):c.901+1G>A	SNV Germline	Chr16:5079103	Likely pathogenic	ALG1-congenital disorder of glycosylation Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA394681994	rs_1227251669	4 SubmittersRCV002043034 RCV005433606
NM_019109.5(ALG1):c.1182C>G (p.Phe394Leu)	SNV Germline	Chr16:5082668	Pathogenic	ALG1-congenital disorder of glycosylation	Criteria Provided Single Submitter	CA394673976	rs_1386102245	1 SubmittersRCV001956219
NM_019109.5(ALG1):c.621G>A (p.Trp207Ter)	SNV Germline	Chr16:5077526	Pathogenic	ALG1-congenital disorder of glycosylation	Criteria Provided Single Submitter	CA394681392	rs_1956935335	1 SubmittersRCV001953548
NM_019109.5(ALG1):c.309C>G (p.Tyr103Ter)	SNV Germline	Chr16:5073175	Pathogenic	ALG1-congenital disorder of glycosylation	Criteria Provided Single Submitter	CA277196684	rs_199553558	1 SubmittersRCV001935796
NM_019109.5(ALG1):c.739C>T (p.Arg247Cys)	SNV Germline	Chr16:5078016	Conflicting classifications of pathogenicity	ALG1-congenital disorder of glycosylation Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7889974	rs_749270254	6 SubmittersRCV001979791 RCV003228036 RCV005585022
NM_019109.5(ALG1):c.18G>T (p.Leu6Phe)	SNV Germline	Chr16:5071867	Conflicting classifications of pathogenicity	ALG1-congenital disorder of glycosylation Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7889631	rs_758274229	2 SubmittersRCV002083124 RCV003161437
NM_019109.5(ALG1):c.802G>A (p.Gly268Arg)	SNV Germline	Chr16:5078818	Conflicting classifications of pathogenicity	ALG1-congenital disorder of glycosylation	Criteria Provided Conflicting Classifications	CA7890024	rs_148611855	2 SubmittersRCV002097942
NM_019109.5(ALG1):c.1292C>T (p.Ala431Val)	SNV Germline	Chr16:5084778	Conflicting classifications of pathogenicity	ALG1-congenital disorder of glycosylation Condition: not provided	Criteria Provided Conflicting Classifications	CA7890329	rs_370439294	3 SubmittersRCV002107609 RCV002246673
NM_019109.5(ALG1):c.1188-1G>A	SNV Germline	Chr16:5083681	Likely pathogenic	ALG1-congenital disorder of glycosylation	Criteria Provided Single Submitter	CA394674503	rs_2142728485	1 SubmittersRCV002240119
NM_019109.5(ALG1):c.131G>T (p.Gly44Val)	SNV Germline	Chr16:5071980	Likely pathogenic	ALG1-congenital disorder of glycosylation	Criteria Provided Single Submitter	CA394678624	rs_1336732262	1 SubmittersRCV002472317
NM_019109.5(ALG1):c.295C>T (p.Arg99Ter)	SNV Germline	Chr16:5073161	Pathogenic/Likely pathogenic	Condition: not provided ALG1-congenital disorder of glycosylation	Criteria Provided Multiple Submitters No Conflicts	CA7889778	rs_750451819	4 SubmittersRCV002278988 RCV003096298
NM_019109.5(ALG1):c.235C>T (p.Gln79Ter)	SNV Germline	Chr16:5072977	Pathogenic	ALG1-congenital disorder of glycosylation	Criteria Provided Single Submitter	CA394679071	rs_1471952826	1 SubmittersRCV002819043
NM_019109.5(ALG1):c.740+1G>A	SNV Germline	Chr16:5078018	Likely pathogenic	ALG1-congenital disorder of glycosylation	Criteria Provided Single Submitter	CA7889976	rs_778491977	1 SubmittersRCV003029413
NM_019109.5(ALG1):c.1255C>T (p.Gln419Ter)	SNV Germline	Chr16:5083749	Pathogenic	ALG1-congenital disorder of glycosylation	Criteria Provided Single Submitter	CA394674760	rs_1408092115	1 SubmittersRCV003041562
NM_019109.5(ALG1):c.391-2A>G	SNV Germline	Chr16:5075386	Likely pathogenic	ALG1-congenital disorder of glycosylation	Criteria Provided Single Submitter	CA394680208	rs_1342491406	1 SubmittersRCV003048607
NM_019109.5(ALG1):c.843C>T (p.Val281=)	SNV Germline	Chr16:5078859	Conflicting classifications of pathogenicity	Condition: not provided ALG1-congenital disorder of glycosylation	Criteria Provided Conflicting Classifications	CA493335334	rs_2505862819	2 SubmittersRCV003219124 RCV005101404
NM_019109.5(ALG1):c.645C>G (p.Tyr215Ter)	SNV Germline	Chr16:5077922	Pathogenic	ALG1-congenital disorder of glycosylation	Criteria Provided Single Submitter	CA394681458	rs_753904901	1 SubmittersRCV003502872
NM_019109.5(ALG1):c.1263+2T>C	SNV Germline	Chr16:5083759	Pathogenic	ALG1-congenital disorder of glycosylation	Criteria Provided Single Submitter	CA394674781	rs_1596263036	1 SubmittersRCV003503629
NM_019109.5(ALG1):c.1073-1G>A	SNV Germline	Chr16:5082558	Likely pathogenic	ALG1-congenital disorder of glycosylation	Criteria Provided Single Submitter	CA394673699	rs_781435590	1 SubmittersRCV003504177
NM_019109.5(ALG1):c.1263G>A (p.Gln421=)	SNV Germline	Chr16:5083757	Pathogenic/Likely pathogenic	ALG1-congenital disorder of glycosylation	Criteria Provided Multiple Submitters No Conflicts	CA7890293	rs_763496595	2 SubmittersRCV003502019
NM_019109.5(ALG1):c.1072+1G>T	SNV Germline	Chr16:5081057	Likely pathogenic	ALG1-congenital disorder of glycosylation	Criteria Provided Single Submitter	CA394673161	rs_1957010104	1 SubmittersRCV003502981
NM_019109.5(ALG1):c.743C>G (p.Ser248Ter)	SNV Germline	Chr16:5078759	Pathogenic	ALG1-congenital disorder of glycosylation	Criteria Provided Single Submitter	CA394681676	rs_1956960386	1 SubmittersRCV003503192
NM_019109.5(ALG1):c.185C>A (p.Ser62Ter)	SNV Germline	Chr16:5072034	Pathogenic	ALG1-congenital disorder of glycosylation	Criteria Provided Single Submitter	CA394678783	rs_1253708943	1 SubmittersRCV003504065
NM_019109.5(ALG1):c.61G>T (p.Gly21Ter)	SNV Germline	Chr16:5071910	Pathogenic	ALG1-congenital disorder of glycosylation	Criteria Provided Single Submitter	CA7889660	rs_771153009	1 SubmittersRCV003612642
NM_019109.5(ALG1):c.961+1G>A	SNV Germline	Chr16:5079808	Likely pathogenic	ALG1-congenital disorder of glycosylation	Criteria Provided Multiple Submitters No Conflicts	CA277163363	rs_373355236	2 SubmittersRCV003612575
NM_019109.5(ALG1):c.1059C>A (p.Tyr353Ter)	SNV Germline	Chr16:5081043	Pathogenic/Likely pathogenic	ALG1-congenital disorder of glycosylation	Criteria Provided Multiple Submitters No Conflicts	CA394673115	rs_1957009416	2 SubmittersRCV003612867
NM_019109.5(ALG1):c.11C>A (p.Ser4Ter)	SNV Germline	Chr16:5071860	Pathogenic	ALG1-congenital disorder of glycosylation	Criteria Provided Single Submitter	CA394678415	rs_2505844602	1 SubmittersRCV003612724
NM_019109.5(ALG1):c.898G>T (p.Glu300Ter)	SNV Germline	Chr16:5079099	Pathogenic	ALG1-congenital disorder of glycosylation	Criteria Provided Single Submitter	CA394681987	rs_2505863979	1 SubmittersRCV003612777
NM_019109.5(ALG1):c.1163C>T (p.Pro388Leu)	SNV Germline	Chr16:5082649	Likely pathogenic	ALG1-congenital disorder of glycosylation	Criteria Provided Multiple Submitters No Conflicts	CA394673939	rs_757369691	2 SubmittersRCV003613187
NM_019109.5(ALG1):c.630-2A>G	SNV Germline	Chr16:5077905	Likely pathogenic	ALG1-congenital disorder of glycosylation	Criteria Provided Multiple Submitters No Conflicts	CA394681422	rs_2505859888	3 SubmittersRCV003613267
NM_019109.5(ALG1):c.539+1G>A	SNV Germline	Chr16:5075537	Likely pathogenic	ALG1-congenital disorder of glycosylation	Criteria Provided Multiple Submitters No Conflicts	CA7889859	rs_752189808	2 SubmittersRCV003611387
NM_019109.5(ALG1):c.123C>T (p.Gly41=)	SNV Germline	Chr16:5071972	Conflicting classifications of pathogenicity	ALG1-congenital disorder of glycosylation	Criteria Provided Conflicting Classifications	CA493408890	rs_756942890	2 SubmittersRCV003612087
NM_019109.5(ALG1):c.543C>G (p.Tyr181Ter)	SNV Germline	Chr16:5077448	Pathogenic	ALG1-congenital disorder of glycosylation	Criteria Provided Single Submitter	CA394681223	rs_375670899	1 SubmittersRCV003612445
NM_019109.5(ALG1):c.212C>G (p.Ser71Cys)	SNV Germline	Chr16:5072954	Conflicting classifications of pathogenicity	ALG1-congenital disorder of glycosylation	Criteria Provided Conflicting Classifications	CA394678992	rs_200605408	2 SubmittersRCV003821947
NM_019109.5(ALG1):c.741-9C>T	SNV Germline	Chr16:5078748	Conflicting classifications of pathogenicity	ALG1-congenital disorder of glycosylation ALG1-related disorder	Criteria Provided Conflicting Classifications	CA7890001	rs_746690656	3 SubmittersRCV003832880 RCV003984433
NM_019109.5(ALG1):c.1095T>A (p.Cys365Ter)	SNV Germline	Chr16:5082581	Pathogenic	ALG1-congenital disorder of glycosylation	Criteria Provided Single Submitter	CA7890228	rs_776264264	1 SubmittersRCV003846134
NM_019109.5(ALG1):c.292C>T (p.Pro98Ser)	SNV Germline	Chr16:5073158	Likely pathogenic	ALG1-congenital disorder of glycosylation	Criteria Provided Single Submitter	CA394679809	rs_1252818613	1 SubmittersRCV003856516
NM_019109.5(ALG1):c.1144A>G (p.Met382Val)	SNV Germline	Chr16:5082630	Likely pathogenic	ALG1-congenital disorder of glycosylation	Criteria Provided Multiple Submitters No Conflicts	CA7890238	rs_756606180	2 SubmittersRCV003879499
NM_019109.5(ALG1):c.540-2A>T	SNV Germline	Chr16:5077443	Likely pathogenic	ALG1-congenital disorder of glycosylation	Criteria Provided Single Submitter	CA394681209	rs_1956933594	1 SubmittersRCV003880849
NM_019109.5(ALG1):c.208+1G>A	SNV Germline	Chr16:5072058	Likely pathogenic	ALG1-congenital disorder of glycosylation	Criteria Provided Single Submitter	CA394678877	rs_1313166263	1 SubmittersRCV003878416
NM_019109.5(ALG1):c.1A>G (p.Met1Val)	SNV Germline	Chr16:5071850	Likely pathogenic	ALG1-congenital disorder of glycosylation	Criteria Provided Single Submitter			1 SubmittersRCV005015525
NM_019109.5(ALG1):c.209-2A>T	SNV Germline	Chr16:5072949	Likely pathogenic	ALG1-congenital disorder of glycosylation	Criteria Provided Single Submitter			1 SubmittersRCV005015533
NM_019109.5(ALG1):c.287-1G>C	SNV Germline	Chr16:5073152	Likely pathogenic	ALG1-congenital disorder of glycosylation	Criteria Provided Single Submitter			1 SubmittersRCV005015537
NM_019109.5(ALG1):c.902-1G>C	SNV Germline	Chr16:5079747	Likely pathogenic	ALG1-congenital disorder of glycosylation	Criteria Provided Single Submitter			1 SubmittersRCV005015548
NM_019109.5(ALG1):c.1051G>T (p.Glu351Ter)	SNV Germline	Chr16:5081035	Pathogenic	ALG1-congenital disorder of glycosylation	Criteria Provided Single Submitter			1 SubmittersRCV005009817
NM_019109.5(ALG1):c.1187+2T>C	SNV Germline	Chr16:5082675	Pathogenic	ALG1-congenital disorder of glycosylation	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV005015550
NM_019109.5(ALG1):c.1261C>T (p.Gln421Ter)	SNV Germline	Chr16:5083755	Pathogenic/Likely pathogenic	ALG1-congenital disorder of glycosylation	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV005015551
NM_019109.5(ALG1):c.1264-2A>G	SNV Germline	Chr16:5084748	Likely pathogenic	ALG1-congenital disorder of glycosylation	Criteria Provided Single Submitter			1 SubmittersRCV005015552
NM_019109.5(ALG1):c.741-1G>T	SNV Germline	Chr16:5078756	Likely pathogenic	ALG1-congenital disorder of glycosylation	Criteria Provided Single Submitter			1 SubmittersRCV005118171
NM_019109.5(ALG1):c.1238C>A (p.Ser413Ter)	SNV Germline	Chr16:5083732	Pathogenic	ALG1-congenital disorder of glycosylation	Criteria Provided Single Submitter			1 SubmittersRCV005131424
NM_019109.5(ALG1):c.688C>T (p.Gln230Ter)	SNV Germline	Chr16:5077965	Pathogenic	ALG1-congenital disorder of glycosylation	Criteria Provided Single Submitter			1 SubmittersRCV005132220
NM_019109.5(ALG1):c.863-1G>A	SNV Germline	Chr16:5079063	Likely pathogenic	ALG1-congenital disorder of glycosylation	Criteria Provided Single Submitter			1 SubmittersRCV005161809
NM_019109.5(ALG1):c.1170T>A (p.Cys390Ter)	SNV Germline	Chr16:5082656	Pathogenic	ALG1-congenital disorder of glycosylation	Criteria Provided Single Submitter			1 SubmittersRCV005163612
NM_019109.5(ALG1):c.1040G>A (p.Trp347Ter)	SNV Germline	Chr16:5081024	Pathogenic	ALG1-congenital disorder of glycosylation	Criteria Provided Single Submitter			1 SubmittersRCV005195582
NM_019109.5(ALG1):c.961+1G>T	SNV Germline	Chr16:5079808	Likely pathogenic	ALG1-congenital disorder of glycosylation	Criteria Provided Single Submitter			1 SubmittersRCV005253366

NM_019109.5(ALG1):c.773C>T (p.Ser258Leu)

SNV
Germline

Chr16:5078789

Pathogenic/Likely pathogenic

ALG1-congenital disorder of glycosylation
Condition: not provided
Inborn genetic diseases
Congenital disorder of glycosylation
Finnish congenital nephrotic syndrome
Encephalopathy
ALG12-congenital disorder of glycosylation

Criteria Provided
Multiple Submitters
No Conflicts

CA223556

rs_28939378

20 SubmittersRCV000004989 RCV000081987 RCV000210565 RCV000606536 RCV000655875 RCV001526585 RCV003483423

NM_019109.5(ALG1):c.1025A>C (p.Gln342Pro)

SNV
Germline

Chr16:5081009

Pathogenic/Likely pathogenic

ALG1-congenital disorder of glycosylation
Condition: not provided
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA277940

rs_267606651

4 SubmittersRCV000004990 RCV001091535 RCV002512789

NM_019109.5(ALG1):c.450C>G (p.Ser150Arg)

SNV
Germline

Chr16:5075447

Pathogenic

ALG1-congenital disorder of glycosylation

Criteria Provided
Single Submitter

CA277941

rs_121908340

2 SubmittersRCV000004991

NM_019109.5(ALG1):c.434G>A (p.Gly145Asp)

SNV
Germline

Chr16:5075431

Conflicting classifications of pathogenicity

ALG1-congenital disorder of glycosylation
not specified

Criteria Provided
Conflicting Classifications

CA277972

rs_387906926

4 SubmittersRCV000023494 RCV005237408

NM_019109.5(ALG1):c.1188T>A (p.Cys396Ter)

SNV
Germline

Chr16:5083682

Pathogenic

ALG1-congenital disorder of glycosylation

No Assertion Criteria Provided

CA277974

rs_387906927

1 SubmittersRCV000023495

NM_019109.5(ALG1):c.826C>T (p.Arg276Trp)

SNV
Germline

Chr16:5078842

Pathogenic/Likely pathogenic

ALG1-congenital disorder of glycosylation
Congenital disorder of glycosylation
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA277976

rs_151173406

7 SubmittersRCV000023496 RCV000851250 RCV001562717

NM_019109.5(ALG1):c.1037C>G (p.Pro346Arg)

SNV
Germline

Chr16:5081021

Conflicting classifications of pathogenicity

Condition: not provided
ALG1-congenital disorder of glycosylation

Criteria Provided
Conflicting Classifications

CA223549

rs_398124347

2 SubmittersRCV000081980 RCV001390958

NM_019109.5(ALG1):c.1079C>T (p.Ala360Val)

SNV
Germline

Chr16:5082565

Pathogenic/Likely pathogenic

Condition: not provided
Inborn genetic diseases
Congenital disorder of glycosylation
ALG1-congenital disorder of glycosylation

Criteria Provided
Multiple Submitters
No Conflicts

CA223551

rs_398124348

7 SubmittersRCV000081981 RCV000210723 RCV000851230 RCV001795148

NM_019109.5(ALG1):c.1162C>T (p.Pro388Ser)

SNV
Germline

Chr16:5082648

Conflicting classifications of pathogenicity

Condition: not provided
Congenital disorder of glycosylation
ALG1-congenital disorder of glycosylation

Criteria Provided
Conflicting Classifications

CA223553

rs_398124349

4 SubmittersRCV000081983 RCV000851242 RCV001857394

NM_019109.5(ALG1):c.1187+1G>A

SNV
Germline

Chr16:5082674

Pathogenic/Likely pathogenic

Condition: not provided
ALG1-congenital disorder of glycosylation
Congenital disorder of glycosylation

Criteria Provided
Multiple Submitters
No Conflicts

CA223555

rs_374928784

6 SubmittersRCV000081984 RCV002505001 RCV000851244

NC_000016.10:g.5071998A>G

SNV
Germline

Chr16:5071998

Conflicting classifications of pathogenicity

Condition: not provided
Congenital disorder of glycosylation
ALG1-congenital disorder of glycosylation

Criteria Provided
Conflicting Classifications

CA238947

rs_794726944

6 SubmittersRCV000173488 RCV000851229 RCV001089972

NM_019109.5(ALG1):c.15C>A (p.Cys5Ter)

SNV
Germline

Chr16:5071864

Pathogenic

Condition: not provided
Congenital disorder of glycosylation
ALG1-congenital disorder of glycosylation

Criteria Provided
Multiple Submitters
No Conflicts

CA277993

rs_752922461

3 SubmittersRCV000173489 RCV000851233 RCV002500456

NM_019109.5(ALG1):c.208+13G>A

SNV
Germline

Chr16:5072070

Conflicting classifications of pathogenicity

Condition: not provided
ALG1-congenital disorder of glycosylation

Criteria Provided
Conflicting Classifications

CA238949

rs_794726945

2 SubmittersRCV000173490 RCV002054050

NM_019109.5(ALG1):c.19G>A (p.Val7Ile)

SNV
Germline

Chr16:5071868

Conflicting classifications of pathogenicity

Condition: not provided
ALG1-congenital disorder of glycosylation

Criteria Provided
Conflicting Classifications

CA238950

rs_199891552

2 SubmittersRCV000173492 RCV002054051

NM_019109.5(ALG1):c.1188-2A>G

SNV
Germline

Chr16:5083680

Pathogenic/Likely pathogenic

Condition: not provided
Congenital disorder of glycosylation
ALG1-congenital disorder of glycosylation

Criteria Provided
Multiple Submitters
No Conflicts

CA277995

rs_794727073

4 SubmittersRCV000174389 RCV000851245 RCV002478562

NM_019109.5(ALG1):c.262T>G (p.Leu88Val)

SNV
Germline

Chr16:5073004

Conflicting classifications of pathogenicity

Condition: not provided
Congenital disorder of glycosylation
ALG1-congenital disorder of glycosylation

Criteria Provided
Conflicting Classifications

CA277996

rs_794727301

3 SubmittersRCV000175915 RCV000851232 RCV001852160

NM_019109.5(ALG1):c.1187+3A>G

SNV
Germline

Chr16:5082676

Pathogenic/Likely pathogenic

Condition: not provided
ALG1-related disorder
ALG1-congenital disorder of glycosylation
Encephalopathy
Congenital disorder of glycosylation type I
Congenital disorder of glycosylation

Criteria Provided
Multiple Submitters
No Conflicts

CA211937

rs_369160589

14 SubmittersRCV000413040 RCV003417756 RCV000209837 RCV001526586 RCV003225934 RCV000851246

NM_019109.5(ALG1):c.1072G>C (p.Gly358Arg)

SNV
Germline

Chr16:5081056

Conflicting classifications of pathogenicity

Condition: not provided
Congenital disorder of glycosylation
ALG1-congenital disorder of glycosylation

Criteria Provided
Conflicting Classifications

CA10604629

rs_886042742

3 SubmittersRCV000342123 RCV000851247 RCV005008241

NM_019109.5(ALG1):c.682G>T (p.Asp228Tyr)

SNV
Germline

Chr16:5077959

Conflicting classifications of pathogenicity

Condition: not provided
ALG1-congenital disorder of glycosylation

Criteria Provided
Conflicting Classifications

CA7889959

rs_145158686

2 SubmittersRCV000386682 RCV001467992

NM_019109.5(ALG1):c.1150G>C (p.Gly384Arg)

SNV
Germline

Chr16:5082636

Conflicting classifications of pathogenicity

Condition: not provided
ALG1-congenital disorder of glycosylation

Criteria Provided
Conflicting Classifications

CA16603253

rs_1057520122

2 SubmittersRCV000443869 RCV005431652

NM_019109.5(ALG1):c.1342C>T (p.Arg448Ter)

SNV
Germline

Chr16:5084828

Likely pathogenic

Condition: not provided
ALG1-congenital disorder of glycosylation

Criteria Provided
Multiple Submitters
No Conflicts

CA7890343

rs_1047747

2 SubmittersRCV000430761 RCV000808344

NM_019109.5(ALG1):c.304C>T (p.Gln102Ter)

SNV
Germline

Chr16:5073170

Pathogenic/Likely pathogenic

Condition: not provided
ALG1-congenital disorder of glycosylation

Criteria Provided
Multiple Submitters
No Conflicts

CA7889780

rs_780107088

3 SubmittersRCV000498030 RCV000801713

NM_019109.5(ALG1):c.827G>A (p.Arg276Gln)

SNV
Germline

Chr16:5078843

Conflicting classifications of pathogenicity

ALG1-congenital disorder of glycosylation
Condition: not provided
ALG1-related disorder

Criteria Provided
Conflicting Classifications

CA7890038

rs_201975029

6 SubmittersRCV000555504 RCV001556239 RCV003915589

NM_019109.5(ALG1):c.823G>T (p.Glu275Ter)

SNV
Germline

Chr16:5078839

Pathogenic/Likely pathogenic

Condition: not provided
ALG1-congenital disorder of glycosylation

Criteria Provided
Multiple Submitters
No Conflicts

CA394681822

rs_1372794201

4 SubmittersRCV000598555 RCV001796133

NM_019109.5(ALG1):c.876C>G (p.Phe292Leu)

SNV
Germline

Chr16:5079077

Likely pathogenic

ALG1-congenital disorder of glycosylation

Criteria Provided
Single Submitter

CA394681943

rs_1009298200

1 SubmittersRCV000625978

NM_019109.5(ALG1):c.877T>C (p.Ser293Pro)

SNV
Germline

Chr16:5079078

Likely pathogenic

ALG1-congenital disorder of glycosylation

Criteria Provided
Single Submitter

CA394681944

rs_1555452127

1 SubmittersRCV000625977

NM_019109.5(ALG1):c.863-2A>G

SNV
Germline

Chr16:5079062

Likely pathogenic

ALG1-congenital disorder of glycosylation

Criteria Provided
Multiple Submitters
No Conflicts

CA7890067

rs_768733117

2 SubmittersRCV000704546

NM_019109.5(ALG1):c.652C>T (p.Pro218Ser)

SNV
Germline

Chr16:5077929

Conflicting classifications of pathogenicity

ALG1-congenital disorder of glycosylation
not specified

Criteria Provided
Conflicting Classifications

CA7889951

rs_528261173

3 SubmittersRCV000758003 RCV004782538

NM_019109.5(ALG1):c.212C>T (p.Ser71Phe)

SNV
Germline

Chr16:5072954

Pathogenic/Likely pathogenic

Congenital disorder of glycosylation
ALG1-congenital disorder of glycosylation

Criteria Provided
Multiple Submitters
No Conflicts

CA7889727

rs_200605408

3 SubmittersRCV000851227 RCV001858479

NM_019109.5(ALG1):c.293C>T (p.Pro98Leu)

SNV
Germline

Chr16:5073159

Pathogenic

Congenital disorder of glycosylation
ALG1-congenital disorder of glycosylation

Criteria Provided
Single Submitter

CA394679810

rs_1596252105

2 SubmittersRCV000851226 RCV003502554

NM_019109.5(ALG1):c.450C>A (p.Ser150Arg)

SNV
Germline

Chr16:5075447

Pathogenic

Congenital disorder of glycosylation
ALG1-congenital disorder of glycosylation

Criteria Provided
Single Submitter

CA394680420

rs_121908340

2 SubmittersRCV000851238 RCV001869290

NM_019109.5(ALG1):c.841G>T (p.Val281Phe)

SNV
Germline

Chr16:5078857

Pathogenic/Likely pathogenic

Congenital disorder of glycosylation
ALG1-congenital disorder of glycosylation

Criteria Provided
Multiple Submitters
No Conflicts

CA394681849

rs_553396382

3 SubmittersRCV000851225 RCV001858478

NM_019109.5(ALG1):c.866A>G (p.Asp289Gly)

SNV
Germline

Chr16:5079067

Likely pathogenic

Congenital disorder of glycosylation
ALG1-congenital disorder of glycosylation

Criteria Provided
Multiple Submitters
No Conflicts

CA394681919

rs_1180515976

3 SubmittersRCV000851222 RCV001377315

NM_019109.5(ALG1):c.1057T>G (p.Tyr353Asp)

SNV
Germline

Chr16:5081041

Conflicting classifications of pathogenicity

Congenital disorder of glycosylation
ALG1-congenital disorder of glycosylation

Criteria Provided
Conflicting Classifications

CA394673107

rs_1596259672

3 SubmittersRCV000851243 RCV001858482

NM_019109.5(ALG1):c.1076C>T (p.Ser359Leu)

SNV
Germline

Chr16:5082562

Pathogenic

Congenital disorder of glycosylation
ALG1-congenital disorder of glycosylation
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA394673720

rs_1299775990

4 SubmittersRCV000851234 RCV002538359 RCV005054278

NM_019109.5(ALG1):c.1097T>A (p.Leu366Gln)

SNV
Germline

Chr16:5082583

Pathogenic

Congenital disorder of glycosylation
ALG1-congenital disorder of glycosylation

Criteria Provided
Single Submitter

CA394673797

rs_1596261208

2 SubmittersRCV000851237 RCV001809863

NM_019109.5(ALG1):c.1150G>A (p.Gly384Arg)

SNV
Germline

Chr16:5082636

Conflicting classifications of pathogenicity

Congenital disorder of glycosylation
ALG1-congenital disorder of glycosylation

Criteria Provided
Conflicting Classifications

CA394673908

rs_1057520122

4 SubmittersRCV000851249 RCV001858483

NM_019109.5(ALG1):c.1312C>T (p.Arg438Trp)

SNV
Germline

Chr16:5084798

Pathogenic

Congenital disorder of glycosylation
ALG1-congenital disorder of glycosylation
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA277165747

rs_16835020

6 SubmittersRCV000851223 RCV001858477 RCV002538358

NM_019109.5(ALG1):c.961+1G>C

SNV
Germline

Chr16:5079808

Likely pathogenic

Congenital disorder of glycosylation
ALG1-congenital disorder of glycosylation

Criteria Provided
Single Submitter

CA7890123

rs_373355236

2 SubmittersRCV000851241 RCV001858481

NM_019109.5(ALG1):c.522C>T (p.Leu174=)

SNV
Germline

Chr16:5075519

Conflicting classifications of pathogenicity

ALG1-congenital disorder of glycosylation
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7889853

rs_776753482

2 SubmittersRCV001858598 RCV005251240

NM_019109.5(ALG1):c.993C>T (p.Arg331=)

SNV
Germline

Chr16:5080977

Conflicting classifications of pathogenicity

ALG1-congenital disorder of glycosylation
ALG1-related disorder

Criteria Provided
Conflicting Classifications

CA7890164

rs_561385337

3 SubmittersRCV000889766 RCV003968102

NM_019109.5(ALG1):c.787C>T (p.Arg263Trp)

SNV
Germline

Chr16:5078803

Conflicting classifications of pathogenicity

ALG1-congenital disorder of glycosylation
Condition: not provided
Inborn genetic diseases
ALG1-related disorder

Criteria Provided
Conflicting Classifications

CA7890019

rs_145317306

5 SubmittersRCV000981645 RCV001576674 RCV002550564 RCV004754667

NM_019109.5(ALG1):c.1036C>A (p.Pro346Thr)

SNV
Germline

Chr16:5081020

Conflicting classifications of pathogenicity

ALG1-congenital disorder of glycosylation
not specified

Criteria Provided
Conflicting Classifications

CA7890174

rs_143676440

4 SubmittersRCV000989517 RCV001844253

NM_019109.5(ALG1):c.1145T>C (p.Met382Thr)

SNV
Germline

Chr16:5082631

Pathogenic/Likely pathogenic

Condition: not provided
ALG1-congenital disorder of glycosylation

Criteria Provided
Multiple Submitters
No Conflicts

CA394673896

rs_1596261268

3 SubmittersRCV001091536 RCV002497493

NM_019109.5(ALG1):c.95C>A (p.Ala32Asp)

SNV
Germline

Chr16:5071944

Conflicting classifications of pathogenicity

ALG1-congenital disorder of glycosylation
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7889670

rs_376723766

2 SubmittersRCV001245204 RCV004978201

NM_019109.5(ALG1):c.946G>A (p.Val316Ile)

SNV
Germline

Chr16:5079792

Conflicting classifications of pathogenicity

ALG1-congenital disorder of glycosylation

Criteria Provided
Conflicting Classifications

CA7890118

rs_150272167

3 SubmittersRCV001262757

NM_019109.5(ALG1):c.1280T>G (p.Phe427Cys)

SNV
Germline

Chr16:5084766

Likely pathogenic

ALG1-congenital disorder of glycosylation

No Assertion Criteria Provided

CA394674829

rs_1957090242

1 SubmittersRCV001310078

NM_019109.5(ALG1):c.1306C>T (p.Gln436Ter)

SNV
Germline

Chr16:5084792

Conflicting classifications of pathogenicity

ALG1-congenital disorder of glycosylation

Criteria Provided
Conflicting Classifications

CA394674882

rs_1261895166

2 SubmittersRCV001542367

NM_019109.5(ALG1):c.208+25G>T

SNV
Germline

Chr16:5072082

Likely pathogenic

ALG1-congenital disorder of glycosylation

Criteria Provided
Single Submitter

rs_1281948334

1 SubmittersRCV005253872

NM_019109.5(ALG1):c.1073-2A>G

SNV
Germline

Chr16:5082557

Pathogenic

ALG1-congenital disorder of glycosylation

Criteria Provided
Single Submitter

CA394673695

rs_1957033825

1 SubmittersRCV001783407

NM_019109.5(ALG1):c.339C>G (p.Tyr113Ter)

SNV
Germline

Chr16:5073205

Pathogenic/Likely pathogenic

ALG1-related disorder
ALG1-congenital disorder of glycosylation

Criteria Provided
Multiple Submitters
No Conflicts

CA7889792

rs_776990436

3 SubmittersRCV003394252 RCV001785910

NM_019109.5(ALG1):c.991C>T (p.Arg331Cys)

SNV
Germline

Chr16:5080975

Conflicting classifications of pathogenicity

ALG1-congenital disorder of glycosylation
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7890162

rs_148933850

3 SubmittersRCV002077215 RCV004040821 RCV001786569

NM_019109.5(ALG1):c.560G>A (p.Arg187His)

SNV
Germline

Chr16:5077465

Conflicting classifications of pathogenicity

ALG1-congenital disorder of glycosylation
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7889892

rs_377600706

4 SubmittersRCV001967816 RCV004043131

NM_019109.5(ALG1):c.815G>A (p.Arg272His)

SNV
Germline

Chr16:5078831

Conflicting classifications of pathogenicity

ALG1-congenital disorder of glycosylation
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7890029

rs_560302928

3 SubmittersRCV001960373 RCV002562843

NM_019109.5(ALG1):c.209-2A>G

SNV
Germline

Chr16:5072949

Likely pathogenic

ALG1-congenital disorder of glycosylation

Criteria Provided
Multiple Submitters
No Conflicts

CA7889726

rs_774618681

2 SubmittersRCV002003140

NM_019109.5(ALG1):c.1146G>A (p.Met382Ile)

SNV
Germline

Chr16:5082632

Conflicting classifications of pathogenicity

ALG1-congenital disorder of glycosylation
Congenital disorder of glycosylation
not specified

Criteria Provided
Conflicting Classifications

CA7890239

rs_778368053

3 SubmittersRCV001998830 RCV002227574 RCV003987953

NM_019109.5(ALG1):c.208+1G>C

SNV
Germline

Chr16:5072058

Likely pathogenic

ALG1-congenital disorder of glycosylation

Criteria Provided
Single Submitter

CA394678879

rs_1313166263

1 SubmittersRCV001975951

NM_019109.5(ALG1):c.932A>G (p.Asn311Ser)

SNV
Germline

Chr16:5079778

Conflicting classifications of pathogenicity

ALG1-congenital disorder of glycosylation
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7890111

rs_549071467

2 SubmittersRCV001903350 RCV004975802

NM_019109.5(ALG1):c.598C>T (p.Arg200Ter)

SNV
Germline

Chr16:5077503

Pathogenic/Likely pathogenic

ALG1-congenital disorder of glycosylation

Criteria Provided
Multiple Submitters
No Conflicts

CA394681347

rs_1474783444

3 SubmittersRCV001942071

NM_019109.5(ALG1):c.901+1G>A

SNV
Germline

Chr16:5079103

Likely pathogenic

ALG1-congenital disorder of glycosylation
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA394681994

rs_1227251669

4 SubmittersRCV002043034 RCV005433606

NM_019109.5(ALG1):c.1182C>G (p.Phe394Leu)

SNV
Germline

Chr16:5082668

Pathogenic

ALG1-congenital disorder of glycosylation

Criteria Provided
Single Submitter

CA394673976

rs_1386102245

1 SubmittersRCV001956219

NM_019109.5(ALG1):c.621G>A (p.Trp207Ter)

SNV
Germline

Chr16:5077526

Pathogenic

ALG1-congenital disorder of glycosylation

Criteria Provided
Single Submitter

CA394681392

rs_1956935335

1 SubmittersRCV001953548

NM_019109.5(ALG1):c.309C>G (p.Tyr103Ter)

SNV
Germline

Chr16:5073175

Pathogenic

ALG1-congenital disorder of glycosylation

Criteria Provided
Single Submitter

CA277196684

rs_199553558

1 SubmittersRCV001935796

NM_019109.5(ALG1):c.739C>T (p.Arg247Cys)

SNV
Germline

Chr16:5078016

Conflicting classifications of pathogenicity

ALG1-congenital disorder of glycosylation
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7889974

rs_749270254

6 SubmittersRCV001979791 RCV003228036 RCV005585022

NM_019109.5(ALG1):c.18G>T (p.Leu6Phe)

SNV
Germline

Chr16:5071867

Conflicting classifications of pathogenicity

ALG1-congenital disorder of glycosylation
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7889631

rs_758274229

2 SubmittersRCV002083124 RCV003161437

NM_019109.5(ALG1):c.802G>A (p.Gly268Arg)

SNV
Germline

Chr16:5078818

Conflicting classifications of pathogenicity

ALG1-congenital disorder of glycosylation

Criteria Provided
Conflicting Classifications

CA7890024

rs_148611855

2 SubmittersRCV002097942

NM_019109.5(ALG1):c.1292C>T (p.Ala431Val)

SNV
Germline

Chr16:5084778

Conflicting classifications of pathogenicity

ALG1-congenital disorder of glycosylation
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7890329

rs_370439294

3 SubmittersRCV002107609 RCV002246673

NM_019109.5(ALG1):c.1188-1G>A

SNV
Germline

Chr16:5083681

Likely pathogenic

ALG1-congenital disorder of glycosylation

Criteria Provided
Single Submitter

CA394674503

rs_2142728485

1 SubmittersRCV002240119

NM_019109.5(ALG1):c.131G>T (p.Gly44Val)

SNV
Germline

Chr16:5071980

Likely pathogenic

ALG1-congenital disorder of glycosylation

Criteria Provided
Single Submitter

CA394678624

rs_1336732262

1 SubmittersRCV002472317

NM_019109.5(ALG1):c.295C>T (p.Arg99Ter)

SNV
Germline

Chr16:5073161

Pathogenic/Likely pathogenic

Condition: not provided
ALG1-congenital disorder of glycosylation

Criteria Provided
Multiple Submitters
No Conflicts

CA7889778

rs_750451819

4 SubmittersRCV002278988 RCV003096298

NM_019109.5(ALG1):c.235C>T (p.Gln79Ter)

SNV
Germline

Chr16:5072977

Pathogenic

ALG1-congenital disorder of glycosylation

Criteria Provided
Single Submitter

CA394679071

rs_1471952826

1 SubmittersRCV002819043

NM_019109.5(ALG1):c.740+1G>A

SNV
Germline

Chr16:5078018

Likely pathogenic

ALG1-congenital disorder of glycosylation

Criteria Provided
Single Submitter

CA7889976

rs_778491977

1 SubmittersRCV003029413

NM_019109.5(ALG1):c.1255C>T (p.Gln419Ter)

SNV
Germline

Chr16:5083749

Pathogenic

ALG1-congenital disorder of glycosylation

Criteria Provided
Single Submitter

CA394674760

rs_1408092115

1 SubmittersRCV003041562

NM_019109.5(ALG1):c.391-2A>G

SNV
Germline

Chr16:5075386

Likely pathogenic

ALG1-congenital disorder of glycosylation

Criteria Provided
Single Submitter

CA394680208

rs_1342491406

1 SubmittersRCV003048607

NM_019109.5(ALG1):c.843C>T (p.Val281=)

SNV
Germline

Chr16:5078859

Conflicting classifications of pathogenicity

Condition: not provided
ALG1-congenital disorder of glycosylation

Criteria Provided
Conflicting Classifications

CA493335334

rs_2505862819

2 SubmittersRCV003219124 RCV005101404

NM_019109.5(ALG1):c.645C>G (p.Tyr215Ter)

SNV
Germline

Chr16:5077922

Pathogenic

ALG1-congenital disorder of glycosylation

Criteria Provided
Single Submitter

CA394681458

rs_753904901

1 SubmittersRCV003502872

NM_019109.5(ALG1):c.1263+2T>C

SNV
Germline

Chr16:5083759

Pathogenic

ALG1-congenital disorder of glycosylation

Criteria Provided
Single Submitter

CA394674781

rs_1596263036

1 SubmittersRCV003503629

NM_019109.5(ALG1):c.1073-1G>A

SNV
Germline

Chr16:5082558

Likely pathogenic

ALG1-congenital disorder of glycosylation

Criteria Provided
Single Submitter

CA394673699

rs_781435590

1 SubmittersRCV003504177

NM_019109.5(ALG1):c.1263G>A (p.Gln421=)

SNV
Germline

Chr16:5083757

Pathogenic/Likely pathogenic

ALG1-congenital disorder of glycosylation

Criteria Provided
Multiple Submitters
No Conflicts

CA7890293

rs_763496595

2 SubmittersRCV003502019

NM_019109.5(ALG1):c.1072+1G>T

SNV
Germline

Chr16:5081057

Likely pathogenic

ALG1-congenital disorder of glycosylation

Criteria Provided
Single Submitter

CA394673161

rs_1957010104

1 SubmittersRCV003502981

NM_019109.5(ALG1):c.743C>G (p.Ser248Ter)

SNV
Germline

Chr16:5078759

Pathogenic

ALG1-congenital disorder of glycosylation

Criteria Provided
Single Submitter

CA394681676

rs_1956960386

1 SubmittersRCV003503192

NM_019109.5(ALG1):c.185C>A (p.Ser62Ter)

SNV
Germline

Chr16:5072034

Pathogenic

ALG1-congenital disorder of glycosylation

Criteria Provided
Single Submitter

CA394678783

rs_1253708943

1 SubmittersRCV003504065

NM_019109.5(ALG1):c.61G>T (p.Gly21Ter)

SNV
Germline

Chr16:5071910

Pathogenic

ALG1-congenital disorder of glycosylation

Criteria Provided
Single Submitter

CA7889660

rs_771153009

1 SubmittersRCV003612642

NM_019109.5(ALG1):c.961+1G>A

SNV
Germline

Chr16:5079808

Likely pathogenic

ALG1-congenital disorder of glycosylation

Criteria Provided
Multiple Submitters
No Conflicts

CA277163363

rs_373355236

2 SubmittersRCV003612575

NM_019109.5(ALG1):c.1059C>A (p.Tyr353Ter)

SNV
Germline

Chr16:5081043

Pathogenic/Likely pathogenic

ALG1-congenital disorder of glycosylation

Criteria Provided
Multiple Submitters
No Conflicts

CA394673115

rs_1957009416

2 SubmittersRCV003612867

NM_019109.5(ALG1):c.11C>A (p.Ser4Ter)

SNV
Germline

Chr16:5071860

Pathogenic

ALG1-congenital disorder of glycosylation

Criteria Provided
Single Submitter

CA394678415

rs_2505844602

1 SubmittersRCV003612724

NM_019109.5(ALG1):c.898G>T (p.Glu300Ter)

SNV
Germline

Chr16:5079099

Pathogenic

ALG1-congenital disorder of glycosylation

Criteria Provided
Single Submitter

CA394681987

rs_2505863979

1 SubmittersRCV003612777

NM_019109.5(ALG1):c.1163C>T (p.Pro388Leu)

SNV
Germline

Chr16:5082649

Likely pathogenic

ALG1-congenital disorder of glycosylation

Criteria Provided
Multiple Submitters
No Conflicts

CA394673939

rs_757369691

2 SubmittersRCV003613187

NM_019109.5(ALG1):c.630-2A>G

SNV
Germline

Chr16:5077905

Likely pathogenic

ALG1-congenital disorder of glycosylation

Criteria Provided
Multiple Submitters
No Conflicts

CA394681422

rs_2505859888

3 SubmittersRCV003613267

NM_019109.5(ALG1):c.539+1G>A

SNV
Germline

Chr16:5075537

Likely pathogenic

ALG1-congenital disorder of glycosylation

Criteria Provided
Multiple Submitters
No Conflicts

CA7889859

rs_752189808

2 SubmittersRCV003611387

NM_019109.5(ALG1):c.123C>T (p.Gly41=)

SNV
Germline

Chr16:5071972

Conflicting classifications of pathogenicity

ALG1-congenital disorder of glycosylation

Criteria Provided
Conflicting Classifications

CA493408890

rs_756942890

2 SubmittersRCV003612087

NM_019109.5(ALG1):c.543C>G (p.Tyr181Ter)

SNV
Germline

Chr16:5077448

Pathogenic

ALG1-congenital disorder of glycosylation

Criteria Provided
Single Submitter

CA394681223

rs_375670899

1 SubmittersRCV003612445

NM_019109.5(ALG1):c.212C>G (p.Ser71Cys)

SNV
Germline

Chr16:5072954

Conflicting classifications of pathogenicity

ALG1-congenital disorder of glycosylation

Criteria Provided
Conflicting Classifications

CA394678992

rs_200605408

2 SubmittersRCV003821947

NM_019109.5(ALG1):c.741-9C>T

SNV
Germline

Chr16:5078748

Conflicting classifications of pathogenicity

ALG1-congenital disorder of glycosylation
ALG1-related disorder

Criteria Provided
Conflicting Classifications

CA7890001

rs_746690656

3 SubmittersRCV003832880 RCV003984433

NM_019109.5(ALG1):c.1095T>A (p.Cys365Ter)

SNV
Germline

Chr16:5082581

Pathogenic

ALG1-congenital disorder of glycosylation

Criteria Provided
Single Submitter

CA7890228

rs_776264264

1 SubmittersRCV003846134

NM_019109.5(ALG1):c.292C>T (p.Pro98Ser)

SNV
Germline

Chr16:5073158

Likely pathogenic

ALG1-congenital disorder of glycosylation

Criteria Provided
Single Submitter

CA394679809

rs_1252818613

1 SubmittersRCV003856516

NM_019109.5(ALG1):c.1144A>G (p.Met382Val)

SNV
Germline

Chr16:5082630

Likely pathogenic

ALG1-congenital disorder of glycosylation

Criteria Provided
Multiple Submitters
No Conflicts

CA7890238

rs_756606180

2 SubmittersRCV003879499

NM_019109.5(ALG1):c.540-2A>T

SNV
Germline

Chr16:5077443

Likely pathogenic

ALG1-congenital disorder of glycosylation

Criteria Provided
Single Submitter

CA394681209

rs_1956933594

1 SubmittersRCV003880849

NM_019109.5(ALG1):c.208+1G>A

SNV
Germline

Chr16:5072058

Likely pathogenic

ALG1-congenital disorder of glycosylation

Criteria Provided
Single Submitter

CA394678877

rs_1313166263

1 SubmittersRCV003878416

NM_019109.5(ALG1):c.1A>G (p.Met1Val)

SNV
Germline

Chr16:5071850

Likely pathogenic

ALG1-congenital disorder of glycosylation

Criteria Provided
Single Submitter

1 SubmittersRCV005015525

NM_019109.5(ALG1):c.209-2A>T

SNV
Germline

Chr16:5072949

Likely pathogenic

ALG1-congenital disorder of glycosylation

Criteria Provided
Single Submitter

1 SubmittersRCV005015533

NM_019109.5(ALG1):c.287-1G>C

SNV
Germline

Chr16:5073152

Likely pathogenic

ALG1-congenital disorder of glycosylation

Criteria Provided
Single Submitter

1 SubmittersRCV005015537

NM_019109.5(ALG1):c.902-1G>C

SNV
Germline

Chr16:5079747

Likely pathogenic

ALG1-congenital disorder of glycosylation

Criteria Provided
Single Submitter

1 SubmittersRCV005015548

NM_019109.5(ALG1):c.1051G>T (p.Glu351Ter)

SNV
Germline

Chr16:5081035

Pathogenic

ALG1-congenital disorder of glycosylation

Criteria Provided
Single Submitter

1 SubmittersRCV005009817

NM_019109.5(ALG1):c.1187+2T>C

SNV
Germline

Chr16:5082675

Pathogenic

ALG1-congenital disorder of glycosylation

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005015550

NM_019109.5(ALG1):c.1261C>T (p.Gln421Ter)

SNV
Germline

Chr16:5083755

Pathogenic/Likely pathogenic

ALG1-congenital disorder of glycosylation

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005015551

NM_019109.5(ALG1):c.1264-2A>G

SNV
Germline

Chr16:5084748

Likely pathogenic

ALG1-congenital disorder of glycosylation

Criteria Provided
Single Submitter

1 SubmittersRCV005015552

NM_019109.5(ALG1):c.741-1G>T

SNV
Germline

Chr16:5078756

Likely pathogenic

ALG1-congenital disorder of glycosylation

Criteria Provided
Single Submitter

1 SubmittersRCV005118171

NM_019109.5(ALG1):c.1238C>A (p.Ser413Ter)

SNV
Germline

Chr16:5083732

Pathogenic

ALG1-congenital disorder of glycosylation

Criteria Provided
Single Submitter

1 SubmittersRCV005131424

NM_019109.5(ALG1):c.688C>T (p.Gln230Ter)

SNV
Germline

Chr16:5077965

Pathogenic

ALG1-congenital disorder of glycosylation

Criteria Provided
Single Submitter

1 SubmittersRCV005132220

NM_019109.5(ALG1):c.863-1G>A

SNV
Germline

Chr16:5079063

Likely pathogenic

ALG1-congenital disorder of glycosylation

Criteria Provided
Single Submitter

1 SubmittersRCV005161809

NM_019109.5(ALG1):c.1170T>A (p.Cys390Ter)

SNV
Germline

Chr16:5082656

Pathogenic

ALG1-congenital disorder of glycosylation

Criteria Provided
Single Submitter

1 SubmittersRCV005163612

NM_019109.5(ALG1):c.1040G>A (p.Trp347Ter)

SNV
Germline

Chr16:5081024

Pathogenic

ALG1-congenital disorder of glycosylation

Criteria Provided
Single Submitter

1 SubmittersRCV005195582

NM_019109.5(ALG1):c.961+1G>T

SNV
Germline

Chr16:5079808

Likely pathogenic

ALG1-congenital disorder of glycosylation

Criteria Provided
Single Submitter

1 SubmittersRCV005253366