Total 141 pathogenic variants reported for ALG1-congenital disorder of glycosylation 
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 SubmittersRCV000004989RCV000081987RCV000210565RCV000606536RCV000655875RCV001526585RCV003483423

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 SubmittersRCV000004990RCV001091535RCV002512789

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 SubmittersRCV000023494RCV005237408

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 SubmittersRCV000023496RCV000851250RCV001562717

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 SubmittersRCV000081980RCV001390958

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 SubmittersRCV000081981RCV000210723RCV000851230RCV001795148

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 SubmittersRCV000081983RCV000851242RCV001857394

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 SubmittersRCV000081984RCV002505001RCV000851244

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 SubmittersRCV000173488RCV000851229RCV001089972

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 SubmittersRCV000173489RCV000851233RCV002500456

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 SubmittersRCV000173490RCV002054050

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 SubmittersRCV000173492RCV002054051

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 SubmittersRCV000174389RCV000851245RCV002478562

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 SubmittersRCV000175915RCV000851232RCV001852160

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 SubmittersRCV000413040RCV003417756RCV000209837RCV001526586RCV003225934RCV000851246

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 SubmittersRCV000342123RCV000851247RCV005008241

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 SubmittersRCV000386682RCV001467992

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 SubmittersRCV000443869RCV005431652

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 SubmittersRCV000430761RCV000808344

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 SubmittersRCV000498030RCV000801713

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 SubmittersRCV000555504RCV001556239RCV003915589

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 SubmittersRCV000598555RCV001796133

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 SubmittersRCV000758003RCV004782538

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 SubmittersRCV000851227RCV001858479

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 SubmittersRCV000851226RCV003502554

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 SubmittersRCV000851238RCV001869290

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 SubmittersRCV000851225RCV001858478

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 SubmittersRCV000851222RCV001377315

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 SubmittersRCV000851243RCV001858482

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 SubmittersRCV000851234RCV002538359RCV005054278

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 SubmittersRCV000851237RCV001809863

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 SubmittersRCV000851249RCV001858483

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 SubmittersRCV000851223RCV001858477RCV002538358

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 SubmittersRCV000851241RCV001858481

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 SubmittersRCV001858598RCV005251240

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 SubmittersRCV000889766RCV003968102

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 SubmittersRCV000981645RCV001576674RCV002550564RCV004754667

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 SubmittersRCV000989517RCV001844253

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 SubmittersRCV001091536RCV002497493

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 SubmittersRCV001245204RCV004978201

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 SubmittersRCV003394252RCV001785910

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 SubmittersRCV002077215RCV004040821RCV001786569

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 SubmittersRCV001967816RCV004043131

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 SubmittersRCV001960373RCV002562843

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 SubmittersRCV001998830RCV002227574RCV003987953

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 SubmittersRCV001903350RCV004975802

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 SubmittersRCV002043034RCV005433606

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 SubmittersRCV001979791RCV003228036RCV005585022

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 SubmittersRCV002083124RCV003161437

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 SubmittersRCV002107609RCV002246673

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 SubmittersRCV002278988RCV003096298

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 SubmittersRCV003219124RCV005101404

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 SubmittersRCV003832880RCV003984433

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