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.1129A>G (p.Met377Val)	SNV Germline	Chr16:5082615	Pathogenic	ALG1-congenital disorder of glycosylation	No Assertion Criteria Provided	CA277970	rs_387906925	1 SubmittersRCV000023493
NM_019109.5(ALG1):c.434G>A (p.Gly145Asp)	SNV Germline	Chr16:5075431	Conflicting classifications of pathogenicity	ALG1-congenital disorder of glycosylation	Criteria Provided Conflicting Classifications	CA277972	rs_387906926	3 SubmittersRCV000023494
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	ALG1-congenital disorder of glycosylation Condition: not provided	Criteria Provided Conflicting Classifications	CA223549	rs_398124347	2 SubmittersRCV001390958 RCV000081980
NM_019109.5(ALG1):c.1079C>T (p.Ala360Val)	SNV Germline	Chr16:5082565	Pathogenic/Likely pathogenic	Congenital disorder of glycosylation ALG1-congenital disorder of glycosylation Condition: not provided Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA223551	rs_398124348	6 SubmittersRCV000851230 RCV001795148 RCV000081981 RCV000210723
NM_019109.5(ALG1):c.1162C>T (p.Pro388Ser)	SNV Germline	Chr16:5082648	Conflicting classifications of pathogenicity	Congenital disorder of glycosylation ALG1-congenital disorder of glycosylation Condition: not provided	Criteria Provided Conflicting Classifications	CA223553	rs_398124349	3 SubmittersRCV000851242 RCV001857394 RCV000081983
NM_019109.5(ALG1):c.1187+1G>A	SNV Germline	Chr16:5082674	Pathogenic	Condition: not provided Congenital disorder of glycosylation ALG1-congenital disorder of glycosylation	Criteria Provided Multiple Submitters No Conflicts	CA223555	rs_374928784	5 SubmittersRCV000081984 RCV000851244 RCV002505001
NM_019109.4(ALG1):c.149A>G (p.Gln50Arg)	SNV Germline	Chr16:5071998	Pathogenic/Likely pathogenic	Condition: not provided Congenital disorder of glycosylation ALG1-congenital disorder of glycosylation	Criteria Provided Multiple Submitters No Conflicts	CA238947	rs_794726944	5 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	ALG1-congenital disorder of glycosylation Condition: not provided Congenital disorder of glycosylation Encephalopathy Congenital disorder of glycosylation type I ALG1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA211937	rs_369160589	14 SubmittersRCV000209837 RCV000413040 RCV000851246 RCV001526586 RCV003225934 RCV003417756
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.1342C>T (p.Arg448Ter)	SNV Germline	Chr16:5084828	Conflicting classifications of pathogenicity	Condition: not provided ALG1-congenital disorder of glycosylation	Criteria Provided Conflicting Classifications	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	2 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	3 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		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		rs_528261173	3 SubmittersRCV000758003 RCV004782538
NM_019109.5(ALG1):c.212C>T (p.Ser71Phe)	SNV Germline	Chr16:5072954	Pathogenic	Congenital disorder of glycosylation ALG1-congenital disorder of glycosylation	Criteria Provided Single Submitter		rs_200605408	2 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		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		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		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 Single Submitter		rs_1180515976	2 SubmittersRCV000851222 RCV001377315
NM_019109.5(ALG1):c.1076C>T (p.Ser359Leu)	SNV Germline	Chr16:5082562	Pathogenic	Congenital disorder of glycosylation ALG1-congenital disorder of glycosylation	Criteria Provided Single Submitter		rs_1299775990	2 SubmittersRCV000851234 RCV002538359
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		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		rs_1057520122	4 SubmittersRCV000851249 RCV001858483
NM_019109.5(ALG1):c.1312C>T (p.Arg438Trp)	SNV Germline	Chr16:5084798	Pathogenic/Likely pathogenic	Congenital disorder of glycosylation ALG1-congenital disorder of glycosylation Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts		rs_16835020	5 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		rs_373355236	2 SubmittersRCV000851241 RCV001858481
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		rs_145317306	4 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		rs_143676440	3 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		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		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		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		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		rs_1261895166	2 SubmittersRCV001542367
NM_019109.5(ALG1):c.1073-2A>G	SNV Germline	Chr16:5082557	Pathogenic	ALG1-congenital disorder of glycosylation	Criteria Provided Single Submitter		rs_1957033825	1 SubmittersRCV001783407
NM_019109.5(ALG1):c.339C>G (p.Tyr113Ter)	SNV Germline	Chr16:5073205	Pathogenic/Likely pathogenic	ALG1-congenital disorder of glycosylation ALG1-related disorder	Criteria Provided Multiple Submitters No Conflicts		rs_776990436	3 SubmittersRCV001785910 RCV003394252
NM_019109.5(ALG1):c.991C>T (p.Arg331Cys)	SNV Germline	Chr16:5080975	Conflicting classifications of pathogenicity	Condition: not provided ALG1-congenital disorder of glycosylation Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_148933850	3 SubmittersRCV001786569 RCV002077215 RCV004040821
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		rs_377600706	3 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		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 Single Submitter		rs_774618681	1 SubmittersRCV002003140
NM_019109.5(ALG1):c.1146G>A (p.Met382Ile)	SNV Germline	Chr16:5082632	Conflicting classifications of pathogenicity	ALG1-congenital disorder of glycosylation not specified Congenital disorder of glycosylation	Criteria Provided Conflicting Classifications		rs_778368053	3 SubmittersRCV001998830 RCV003987953 RCV002227574
NM_019109.5(ALG1):c.208+1G>C	SNV Germline	Chr16:5072058	Likely pathogenic	ALG1-congenital disorder of glycosylation	Criteria Provided Single Submitter		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		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		rs_1474783444	3 SubmittersRCV001942071
NM_019109.5(ALG1):c.901+1G>A	SNV Germline	Chr16:5079103	Likely pathogenic	ALG1-congenital disorder of glycosylation	Criteria Provided Multiple Submitters No Conflicts		rs_1227251669	2 SubmittersRCV002043034
NM_019109.5(ALG1):c.1182C>G (p.Phe394Leu)	SNV Germline	Chr16:5082668	Pathogenic	ALG1-congenital disorder of glycosylation	Criteria Provided Single Submitter		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		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		rs_199553558	1 SubmittersRCV001935796
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		rs_758274229	2 SubmittersRCV002083124 RCV003161437
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		rs_370439294	2 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		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			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		rs_750451819	3 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			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			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			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			1 SubmittersRCV003048607
NM_019109.5(ALG1):c.645C>G (p.Tyr215Ter)	SNV Germline	Chr16:5077922	Pathogenic	ALG1-congenital disorder of glycosylation	Criteria Provided Single Submitter			1 SubmittersRCV003502872
NM_019109.5(ALG1):c.1263+2T>C	SNV Germline	Chr16:5083759	Pathogenic	ALG1-congenital disorder of glycosylation	Criteria Provided Single Submitter			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			1 SubmittersRCV003504177
NM_019109.5(ALG1):c.1263G>A (p.Gln421=)	SNV Germline	Chr16:5083757	Pathogenic	ALG1-congenital disorder of glycosylation	Criteria Provided Single Submitter			1 SubmittersRCV003502019
NM_019109.5(ALG1):c.1072+1G>T	SNV Germline	Chr16:5081057	Likely pathogenic	ALG1-congenital disorder of glycosylation	Criteria Provided Single Submitter			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			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			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			1 SubmittersRCV003612642
NM_019109.5(ALG1):c.961+1G>A	SNV Germline	Chr16:5079808	Likely pathogenic	ALG1-congenital disorder of glycosylation	Criteria Provided Single Submitter			1 SubmittersRCV003612575
NM_019109.5(ALG1):c.1059C>A (p.Tyr353Ter)	SNV Germline	Chr16:5081043	Pathogenic	ALG1-congenital disorder of glycosylation	Criteria Provided Single Submitter			1 SubmittersRCV003612867
NM_019109.5(ALG1):c.11C>A (p.Ser4Ter)	SNV Germline	Chr16:5071860	Pathogenic	ALG1-congenital disorder of glycosylation	Criteria Provided Single Submitter			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			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			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			2 SubmittersRCV003613267
NM_019109.5(ALG1):c.539+1G>A	SNV Germline	Chr16:5075537	Likely pathogenic	ALG1-congenital disorder of glycosylation	Criteria Provided Single Submitter			1 SubmittersRCV003611387
NM_019109.5(ALG1):c.543C>G (p.Tyr181Ter)	SNV Germline	Chr16:5077448	Pathogenic	ALG1-congenital disorder of glycosylation	Criteria Provided Single Submitter			1 SubmittersRCV003612445
NM_019109.5(ALG1):c.212C>G (p.Ser71Cys)	SNV Germline	Chr16:5072954	Likely pathogenic	ALG1-congenital disorder of glycosylation	Criteria Provided Single Submitter			1 SubmittersRCV003821947
NM_019109.5(ALG1):c.1095T>A (p.Cys365Ter)	SNV Germline	Chr16:5082581	Pathogenic	ALG1-congenital disorder of glycosylation	Criteria Provided Single Submitter			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			1 SubmittersRCV003856516
NM_019109.5(ALG1):c.1144A>G (p.Met382Val)	SNV Germline	Chr16:5082630	Likely pathogenic	ALG1-congenital disorder of glycosylation	Criteria Provided Single Submitter			1 SubmittersRCV003879499
NM_019109.5(ALG1):c.540-2A>T	SNV Germline	Chr16:5077443	Likely pathogenic	ALG1-congenital disorder of glycosylation	Criteria Provided Single Submitter			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			1 SubmittersRCV003878416

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.1129A>G (p.Met377Val)

SNV
Germline

Chr16:5082615

Pathogenic

ALG1-congenital disorder of glycosylation

No Assertion Criteria Provided

CA277970

rs_387906925

1 SubmittersRCV000023493

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

SNV
Germline

Chr16:5075431

Conflicting classifications of pathogenicity

ALG1-congenital disorder of glycosylation

Criteria Provided
Conflicting Classifications

CA277972

rs_387906926

3 SubmittersRCV000023494

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

ALG1-congenital disorder of glycosylation
Condition: not provided

Criteria Provided
Conflicting Classifications

CA223549

rs_398124347

2 SubmittersRCV001390958 RCV000081980

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

SNV
Germline

Chr16:5082565

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA223551

rs_398124348

6 SubmittersRCV000851230 RCV001795148 RCV000081981 RCV000210723

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

SNV
Germline

Chr16:5082648

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA223553

rs_398124349

3 SubmittersRCV000851242 RCV001857394 RCV000081983

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

SNV
Germline

Chr16:5082674

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA223555

rs_374928784

5 SubmittersRCV000081984 RCV000851244 RCV002505001

NM_019109.4(ALG1):c.149A>G (p.Gln50Arg)

SNV
Germline

Chr16:5071998

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA238947

rs_794726944

5 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

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

Criteria Provided
Multiple Submitters
No Conflicts

CA211937

rs_369160589

14 SubmittersRCV000209837 RCV000413040 RCV000851246 RCV001526586 RCV003225934 RCV003417756

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.1342C>T (p.Arg448Ter)

SNV
Germline

Chr16:5084828

Conflicting classifications of pathogenicity

Condition: not provided
ALG1-congenital disorder of glycosylation

Criteria Provided
Conflicting Classifications

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

2 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

3 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

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

rs_528261173

3 SubmittersRCV000758003 RCV004782538

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

SNV
Germline

Chr16:5072954

Pathogenic

Congenital disorder of glycosylation
ALG1-congenital disorder of glycosylation

Criteria Provided
Single Submitter

rs_200605408

2 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

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

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

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
Single Submitter

rs_1180515976

2 SubmittersRCV000851222 RCV001377315

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

SNV
Germline

Chr16:5082562

Pathogenic

Congenital disorder of glycosylation
ALG1-congenital disorder of glycosylation

Criteria Provided
Single Submitter

rs_1299775990

2 SubmittersRCV000851234 RCV002538359

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

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

rs_1057520122

4 SubmittersRCV000851249 RCV001858483

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

SNV
Germline

Chr16:5084798

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_16835020

5 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

rs_373355236

2 SubmittersRCV000851241 RCV001858481

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

rs_145317306

4 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

rs_143676440

3 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

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

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

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

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

rs_1261895166

2 SubmittersRCV001542367

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

SNV
Germline

Chr16:5082557

Pathogenic

ALG1-congenital disorder of glycosylation

Criteria Provided
Single Submitter

rs_1957033825

1 SubmittersRCV001783407

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

SNV
Germline

Chr16:5073205

Pathogenic/Likely pathogenic

ALG1-congenital disorder of glycosylation
ALG1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

rs_776990436

3 SubmittersRCV001785910 RCV003394252

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

SNV
Germline

Chr16:5080975

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_148933850

3 SubmittersRCV001786569 RCV002077215 RCV004040821

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

rs_377600706

3 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

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
Single Submitter

rs_774618681

1 SubmittersRCV002003140

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

SNV
Germline

Chr16:5082632

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_778368053

3 SubmittersRCV001998830 RCV003987953 RCV002227574

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

SNV
Germline

Chr16:5072058

Likely pathogenic

ALG1-congenital disorder of glycosylation

Criteria Provided
Single Submitter

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

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

rs_1474783444

3 SubmittersRCV001942071

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

SNV
Germline

Chr16:5079103

Likely pathogenic

ALG1-congenital disorder of glycosylation

Criteria Provided
Multiple Submitters
No Conflicts

rs_1227251669

2 SubmittersRCV002043034

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

SNV
Germline

Chr16:5082668

Pathogenic

ALG1-congenital disorder of glycosylation

Criteria Provided
Single Submitter

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

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

rs_199553558

1 SubmittersRCV001935796

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

rs_758274229

2 SubmittersRCV002083124 RCV003161437

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

rs_370439294

2 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

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

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

rs_750451819

3 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

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

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

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

1 SubmittersRCV003048607

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

SNV
Germline

Chr16:5077922

Pathogenic

ALG1-congenital disorder of glycosylation

Criteria Provided
Single Submitter

1 SubmittersRCV003502872

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

SNV
Germline

Chr16:5083759

Pathogenic

ALG1-congenital disorder of glycosylation

Criteria Provided
Single Submitter

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

1 SubmittersRCV003504177

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

SNV
Germline

Chr16:5083757

Pathogenic

ALG1-congenital disorder of glycosylation

Criteria Provided
Single Submitter

1 SubmittersRCV003502019

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

SNV
Germline

Chr16:5081057

Likely pathogenic

ALG1-congenital disorder of glycosylation

Criteria Provided
Single Submitter

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

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

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

1 SubmittersRCV003612642

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

SNV
Germline

Chr16:5079808

Likely pathogenic

ALG1-congenital disorder of glycosylation

Criteria Provided
Single Submitter

1 SubmittersRCV003612575

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

SNV
Germline

Chr16:5081043

Pathogenic

ALG1-congenital disorder of glycosylation

Criteria Provided
Single Submitter

1 SubmittersRCV003612867

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

SNV
Germline

Chr16:5071860

Pathogenic

ALG1-congenital disorder of glycosylation

Criteria Provided
Single Submitter

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

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

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

2 SubmittersRCV003613267

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

SNV
Germline

Chr16:5075537

Likely pathogenic

ALG1-congenital disorder of glycosylation

Criteria Provided
Single Submitter

1 SubmittersRCV003611387

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

SNV
Germline

Chr16:5077448

Pathogenic

ALG1-congenital disorder of glycosylation

Criteria Provided
Single Submitter

1 SubmittersRCV003612445

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

SNV
Germline

Chr16:5072954

Likely pathogenic

ALG1-congenital disorder of glycosylation

Criteria Provided
Single Submitter

1 SubmittersRCV003821947

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

SNV
Germline

Chr16:5082581

Pathogenic

ALG1-congenital disorder of glycosylation

Criteria Provided
Single Submitter

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

1 SubmittersRCV003856516

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

SNV
Germline

Chr16:5082630

Likely pathogenic

ALG1-congenital disorder of glycosylation

Criteria Provided
Single Submitter

1 SubmittersRCV003879499

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

SNV
Germline

Chr16:5077443

Likely pathogenic

ALG1-congenital disorder of glycosylation

Criteria Provided
Single Submitter

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

1 SubmittersRCV003878416