Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_012463.4(ATP6V0A2):c.187C>T (p.Arg63Ter)	SNV Germline	Chr12:123718692	Pathogenic	Cutis laxa with osteodystrophy Condition: not provided Alpha-1-antitrypsin deficiency ALG9 congenital disorder of glycosylation Cutis laxa	Criteria Provided Multiple Submitters No Conflicts	CA223052	rs_80356750	5 SubmittersRCV000000888 RCV000790836 RCV004526587 RCV003502506 RCV004579513
NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter)	SNV Germline	Chr12:88077263	Pathogenic/Likely pathogenic	Joubert syndrome 5 Meckel-Gruber syndrome Condition: not provided Bardet-Biedl syndrome 14 Joubert syndrome 5 Meckel syndrome, type 4 Senior-Loken syndrome 6 Leber congenital amaurosis 10 Meckel syndrome, type 4 Joubert syndrome 5 Senior-Loken syndrome 6 Retinitis pigmentosa Nephronophthisis Familial aplasia of the vermis Meckel-Gruber syndrome Bardet-Biedl syndrome 14 Bardet-Biedl syndrome 14 Joubert syndrome 5 Meckel syndrome, type 4 Senior-Loken syndrome 6 COG7 congenital disorder of glycosylation Abnormality of the nervous system Retinal dystrophy Meckel syndrome, type 6 Leber congenital amaurosis CEP290-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA150917	rs_137852832	27 SubmittersRCV000001396 RCV000114202 RCV000086298 RCV000515339 RCV001000092 RCV001002714 RCV000787813 RCV000531295 RCV001542773 RCV001836689 RCV001815157 RCV001836688 RCV001073790 RCV001261607 RCV001276487 RCV003147273
NM_005787.6(ALG3):c.353G>A (p.Gly118Asp)	SNV Germline	Chr3:184245559	Pathogenic	ALG3-congenital disorder of glycosylation	No Assertion Criteria Provided	CA252104	rs_28940588	1 SubmittersRCV000002209
NM_005787.6(ALG3):c.165C>T (p.Gly55=)	SNV Germline	Chr3:184248776	Pathogenic/Likely pathogenic	ALG3-congenital disorder of glycosylation	Criteria Provided Multiple Submitters No Conflicts	CA252105	rs_387906273	4 SubmittersRCV000002210
NM_005787.6(ALG3):c.512G>A (p.Arg171Gln)	SNV Germline	Chr3:184245291	Pathogenic/Likely pathogenic	ALG3-congenital disorder of glycosylation Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA252107	rs_119103236	5 SubmittersRCV000002211 RCV002512673
NM_005787.6(ALG3):c.470T>A (p.Met157Lys)	SNV Germline	Chr3:184245333	Pathogenic	ALG3-congenital disorder of glycosylation	No Assertion Criteria Provided	CA252110	rs_119103238	1 SubmittersRCV000002213
NM_024079.5(ALG8):c.96-2A>G	SNV Germline	Chr11:78127438	Pathogenic	ALG8 congenital disorder of glycosylation	No Assertion Criteria Provided	CA382100102	rs_1555073109	1 SubmittersRCV000002669
NM_024079.5(ALG8):c.139A>C (p.Thr47Pro)	SNV Germline	Chr11:78127393	Pathogenic	ALG8 congenital disorder of glycosylation ALG8 congenital disorder of glycosylation Polycystic liver disease 3 with or without kidney cysts	Criteria Provided Single Submitter	CA252325	rs_121908293	2 SubmittersRCV000002670 RCV002496232
NM_024079.5(ALG8):c.673+4A>G	SNV Germline	Chr11:78114262	Likely pathogenic	ALG8 congenital disorder of glycosylation ALG8 congenital disorder of glycosylation Polycystic liver disease 3 with or without kidney cysts	Criteria Provided Single Submitter	CA600370794	rs_1470636347	2 SubmittersRCV000002671 RCV002496233
NM_024079.5(ALG8):c.824G>A (p.Gly275Asp)	SNV Germline	Chr11:78112724	Likely pathogenic	ALG8 congenital disorder of glycosylation ALG8 congenital disorder of glycosylation Polycystic liver disease 3 with or without kidney cysts	Criteria Provided Single Submitter	CA252326	rs_121908294	2 SubmittersRCV000002672 RCV002496234
NM_033087.4(ALG2):c.393G>T (p.Lys131Asn)	SNV Germline	Chr9:99218792	Pathogenic	ALG2-congenital disorder of glycosylation	No Assertion Criteria Provided	CA252407	rs_730880304	1 SubmittersRCV004562185
NM_032382.5(COG8):c.1611C>G (p.Tyr537Ter)	SNV Germline	Chr16:69331067	Pathogenic	COG8-congenital disorder of glycosylation	No Assertion Criteria Provided	CA252851	rs_121434387	1 SubmittersRCV000003832
NM_032382.5(COG8):c.1413+1G>A	SNV Germline	Chr16:69334520	Pathogenic	COG8-congenital disorder of glycosylation	No Assertion Criteria Provided		rs_1264383808	1 SubmittersRCV000003833
NM_153603.4(COG7):c.169+4A>C	SNV Germline	Chr16:23452822	Pathogenic	COG7 congenital disorder of glycosylation	Criteria Provided Single Submitter	CA494173407	rs_1555497568	2 SubmittersRCV000003835
NM_153603.4(COG7):c.170-7A>G	SNV Germline	Chr16:23445968	Likely pathogenic	COG7 congenital disorder of glycosylation Condition: not provided	Criteria Provided Single Submitter	CA658653833	rs_1555496968	2 SubmittersRCV000003836 RCV001090341
NM_024740.2(ALG9):c.860A>G (p.Tyr287Cys)	SNV Germline	Chr11:111853415	Pathogenic	ALG9 congenital disorder of glycosylation	No Assertion Criteria Provided	CA252862	rs_121908023	1 SubmittersRCV000003947
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_004870.4(MPDU1):c.218G>A (p.Gly73Glu)	SNV Germline	Chr17:7585994	Conflicting classifications of pathogenicity	MPDU1-congenital disorder of glycosylation Condition: not provided	Criteria Provided Conflicting Classifications	CA117816	rs_104894586	4 SubmittersRCV000006225 RCV000081186
NM_004870.4(MPDU1):c.356T>C (p.Leu119Pro)	SNV Germline	Chr17:7586745	Pathogenic	MPDU1-congenital disorder of glycosylation	No Assertion Criteria Provided	CA117817	rs_104894587	1 SubmittersRCV000006226
NM_004870.4(MPDU1):c.2T>C (p.Met1Thr)	SNV Germline	Chr17:7583864	Pathogenic	MPDU1-congenital disorder of glycosylation	No Assertion Criteria Provided	CA117818	rs_104894588	1 SubmittersRCV000006227
NM_004870.4(MPDU1):c.221T>C (p.Leu74Ser)	SNV Germline	Chr17:7585997	Pathogenic	MPDU1-congenital disorder of glycosylation	No Assertion Criteria Provided	CA117820	rs_104894589	1 SubmittersRCV000006229
NM_003859.3(DPM1):c.274C>G (p.Arg92Gly)	SNV Germline	Chr20:50948650	Pathogenic	Congenital disorder of glycosylation type 1E	Criteria Provided Single Submitter	CA118111	rs_121908583	2 SubmittersRCV000006676
NM_001164277.2(SLC37A4):c.148+1G>A	SNV Germline	Chr11:119029221	Pathogenic/Likely pathogenic	Glucose-6-phosphate transport defect Phosphate transport defect Phosphate transport defect Glucose-6-phosphate transport defect Congenital disorder of glycosylation, type IIw	Criteria Provided Multiple Submitters No Conflicts		rs_1943672400	4 SubmittersRCV000007344 RCV002223174 RCV002496291
NM_001164277.2(SLC37A4):c.83G>A (p.Arg28His)	SNV Germline	Chr11:119029287	Pathogenic/Likely pathogenic	Glucose-6-phosphate transport defect Condition: not provided Phosphate transport defect Glucose-6-phosphate transport defect Congenital disorder of glycosylation, type IIw	Criteria Provided Multiple Submitters No Conflicts	CA219358	rs_121908978	8 SubmittersRCV000007345 RCV000059144 RCV002482839
NM_001164277.2(SLC37A4):c.1243C>T (p.Arg415Ter)	SNV Germline	Chr11:119024957	Pathogenic/Likely pathogenic	Glucose-6-phosphate transport defect Phosphate transport defect Congenital disorder of glycosylation, type IIw Phosphate transport defect Glucose-6-phosphate transport defect Congenital disorder of glycosylation, type IIw	Criteria Provided Multiple Submitters No Conflicts	CA254006	rs_121908979	7 SubmittersRCV000007346 RCV001196429 RCV003989281 RCV002496292
NM_001164277.2(SLC37A4):c.1016G>A (p.Gly339Asp)	SNV Germline	Chr11:119025298	Pathogenic/Likely pathogenic	Glucose-6-phosphate transport defect Condition: not provided Congenital disorder of glycosylation, type IIw Glucose-6-phosphate transport defect Phosphate transport defect	Criteria Provided Multiple Submitters No Conflicts	CA219275	rs_121908980	6 SubmittersRCV000007347 RCV000059117 RCV002482840
NM_002408.3(MGAT2):c.869C>T (p.Ser290Phe)	SNV Germline	Chr14:49622137	Pathogenic	MGAT2-congenital disorder of glycosylation	No Assertion Criteria Provided	CA254036	rs_104894446	1 SubmittersRCV000007405
NM_002408.4(MGAT2):c.785A>G (p.His262Arg)	SNV Germline	Chr14:49622053	Pathogenic	MGAT2-congenital disorder of glycosylation	No Assertion Criteria Provided	CA254037	rs_104894447	1 SubmittersRCV000007406
NM_002408.4(MGAT2):c.952A>G (p.Asn318Asp)	SNV Germline	Chr14:49622220	Pathogenic	MGAT2-congenital disorder of glycosylation	No Assertion Criteria Provided	CA254038	rs_104894448	1 SubmittersRCV000007407
NM_002408.4(MGAT2):c.1017T>A (p.Cys339Ter)	SNV Germline	Chr14:49622285	Pathogenic	MGAT2-congenital disorder of glycosylation	No Assertion Criteria Provided	CA254039	rs_104894449	1 SubmittersRCV000007408
NM_001382.4(DPAGT1):c.509A>G (p.Tyr170Cys)	SNV Germline	Chr11:119100396	Conflicting classifications of pathogenicity	DPAGT1-congenital disorder of glycosylation Congenital myasthenic syndrome 13 DPAGT1-congenital disorder of glycosylation Congenital disorder of glycosylation Condition: not provided	Criteria Provided Conflicting Classifications	CA256258	rs_28934876	4 SubmittersRCV000013090 RCV000694750 RCV001291042 RCV001567586
NM_002633.3(PGM1):c.343A>G (p.Thr115Ala)	SNV Germline	Chr1:63629521	Pathogenic	PGM1-congenital disorder of glycosylation	No Assertion Criteria Provided	CA123324	rs_121918371	1 SubmittersRCV000014620
NM_002633.3(PGM1):c.1145-1G>C	SNV Germline	Chr1:63648516	Pathogenic	PGM1-congenital disorder of glycosylation	No Assertion Criteria Provided	CA123325	rs_587776801	1 SubmittersRCV000014621
NM_024592.5(SRD5A3):c.320G>A (p.Trp107Ter)	SNV Germline	Chr4:55359444	Pathogenic	Condition: not provided SRD5A3-congenital disorder of glycosylation	Criteria Provided Multiple Submitters No Conflicts	CA251622	rs_267607093	4 SubmittersRCV001781294 RCV000000891
NM_024592.5(SRD5A3):c.424C>T (p.Arg142Ter)	SNV Germline	Chr4:55364133	Pathogenic	SRD5A3-congenital disorder of glycosylation Abnormality of the nervous system	Criteria Provided Single Submitter	CA251624	rs_267607095	2 SubmittersRCV000000892 RCV001814006
NM_024592.5(SRD5A3):c.489C>A (p.Tyr163Ter)	SNV Germline	Chr4:55364198	Pathogenic	SRD5A3-congenital disorder of glycosylation	No Assertion Criteria Provided	CA251626	rs_267607092	1 SubmittersRCV000000893
NM_024592.5(SRD5A3):c.29C>A (p.Ser10Ter)	SNV Germline	Chr4:55346365	Pathogenic	SRD5A3-congenital disorder of glycosylation	No Assertion Criteria Provided	CA251628	rs_267607094	1 SubmittersRCV000000894
NM_012463.4(ATP6V0A2):c.732-2A>G	SNV Germline	Chr12:123735529	Pathogenic	Cutis laxa with osteodystrophy Condition: not provided ALG9 congenital disorder of glycosylation	Criteria Provided Multiple Submitters No Conflicts	CA342139	rs_80356753	3 SubmittersRCV000020690 RCV002281042 RCV003502507
NM_005216.5(DDOST):c.599G>A (p.Gly200Asp)	SNV Germline	Chr1:20654660	Pathogenic	Congenital disorder of glycosylation type Ir Condition: not provided	Criteria Provided Single Submitter	CA259770	rs_387906831	2 SubmittersRCV000023170 RCV000724013
NM_002408.4(MGAT2):c.711G>C (p.Lys237Asn)	SNV Germline	Chr14:49621979	Likely pathogenic	MGAT2-congenital disorder of glycosylation Global developmental delay Abnormal facial shape Abnormal glycosylation	Criteria Provided Multiple Submitters No Conflicts	CA249931	rs_730882218	4 SubmittersRCV000023200 RCV000162128
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 Condition: not provided Congenital disorder of glycosylation	Criteria Provided Multiple Submitters No Conflicts	CA277976	rs_151173406	7 SubmittersRCV000023496 RCV001562717 RCV000851250
NM_001382.4(DPAGT1):c.349G>A (p.Val117Ile)	SNV Germline	Chr11:119100777	Likely pathogenic	Congenital myasthenic syndrome 13 Congenital myasthenic syndrome 13 DPAGT1-congenital disorder of glycosylation	Criteria Provided Single Submitter	CA129971	rs_387907243	2 SubmittersRCV000030601 RCV001852609
NM_001382.4(DPAGT1):c.324G>C (p.Met108Ile)	SNV Germline	Chr11:119100802	Pathogenic/Likely pathogenic	Congenital myasthenic syndrome 13 Congenital myasthenic syndrome 13 DPAGT1-congenital disorder of glycosylation Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA129972	rs_376039938	3 SubmittersRCV000030602 RCV001224025 RCV003144114
NM_002633.3(PGM1):c.361G>C (p.Gly121Arg)	SNV Germline	Chr1:63629539	Pathogenic	PGM1-congenital disorder of glycosylation	No Assertion Criteria Provided	CA130545	rs_398122912	1 SubmittersRCV000032990
NM_002633.3(PGM1):c.1507C>T (p.Arg503Ter)	SNV Germline	Chr1:63654374	Pathogenic	PGM1-congenital disorder of glycosylation	Criteria Provided Multiple Submitters No Conflicts	CA130546	rs_397515423	3 SubmittersRCV000032991
NM_001382.4(DPAGT1):c.206T>A (p.Ile69Asn)	SNV Germline	Chr11:119101094	Pathogenic	DPAGT1-congenital disorder of glycosylation	No Assertion Criteria Provided	CA261216	rs_397514586	1 SubmittersRCV000032992
NM_001382.4(DPAGT1):c.161+5G>A	SNV Germline	Chr11:119101490	Pathogenic	DPAGT1-congenital disorder of glycosylation	No Assertion Criteria Provided	CA261218	rs_397515322	1 SubmittersRCV000032993
NM_005660.3(SLC35A2):c.991G>A (p.Val331Ile)	SNV Germline/somatic	ChrX:48904918	Pathogenic	SLC35A2-congenital disorder of glycosylation Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA143742	rs_587776961	5 SubmittersRCV000043515 RCV000498343
NM_005660.3(SLC35A2):c.3G>A (p.Met1Ile)	SNV Germline	ChrX:48911634	Pathogenic	SLC35A2-congenital disorder of glycosylation	No Assertion Criteria Provided	CA143744	rs_587776962	2 SubmittersRCV000043516
NM_001382.4(DPAGT1):c.341C>G (p.Ala114Gly)	SNV Germline	Chr11:119100785	Pathogenic/Likely pathogenic	DPAGT1-congenital disorder of glycosylation Congenital disorder of glycosylation	No Assertion Criteria Provided	CA264781	rs_397515327	2 SubmittersRCV000055659 RCV001291448
NM_001382.4(DPAGT1):c.85A>T (p.Ile29Phe)	SNV Germline	Chr11:119101571	Pathogenic/Likely pathogenic	DPAGT1-congenital disorder of glycosylation DPAGT1-congenital disorder of glycosylation Congenital myasthenic syndrome 13 Congenital myasthenic syndrome 13	Criteria Provided Multiple Submitters No Conflicts	CA264783	rs_397515328	3 SubmittersRCV000055660 RCV001209851 RCV003236665
NM_001382.4(DPAGT1):c.503T>C (p.Leu168Pro)	SNV Germline	Chr11:119100402	Pathogenic	DPAGT1-congenital disorder of glycosylation	No Assertion Criteria Provided	CA264785	rs_397515329	1 SubmittersRCV000055661
NM_001164277.2(SLC37A4):c.448G>A (p.Gly150Arg)	SNV Germline	Chr11:119027806	Pathogenic/Likely pathogenic	Condition: not provided Glucose-6-phosphate transport defect Congenital disorder of glycosylation, type IIw Phosphate transport defect Glucose-6-phosphate transport defect	Criteria Provided Multiple Submitters No Conflicts	CA219322	rs_193302883	6 SubmittersRCV000059132 RCV000794844 RCV002483116
NM_001164277.2(SLC37A4):c.59G>A (p.Gly20Asp)	SNV Germline	Chr11:119029311	Pathogenic/Likely pathogenic	Condition: not provided Glucose-6-phosphate transport defect Congenital disorder of glycosylation, type IIw Phosphate transport defect Glucose-6-phosphate transport defect	Criteria Provided Multiple Submitters No Conflicts	CA219337	rs_193302881	6 SubmittersRCV000059137 RCV000699431 RCV002504976
NM_001164277.2(SLC37A4):c.82C>T (p.Arg28Cys)	SNV Germline	Chr11:119029288	Pathogenic	Condition: not provided Glucose-6-phosphate transport defect Phosphate transport defect Glucose-6-phosphate transport defect Congenital disorder of glycosylation, type IIw	Criteria Provided Multiple Submitters No Conflicts	CA219352	rs_193302882	4 SubmittersRCV000059142 RCV000634548 RCV002477207
NM_001164277.2(SLC37A4):c.899G>A (p.Arg300His)	SNV Germline	Chr11:119026052	Pathogenic/Likely pathogenic	Condition: not provided Glucose-6-phosphate transport defect Glycogen storage disease type 1 due to SLC37A4 mutation Congenital disorder of glycosylation, type IIw Phosphate transport defect Glucose-6-phosphate transport defect	Criteria Provided Multiple Submitters No Conflicts	CA219364	rs_193302903	7 SubmittersRCV000059146 RCV001388583 RCV001813754 RCV002498349
NM_012463.4(ATP6V0A2):c.603C>T (p.Ile201=)	SNV Germline	Chr12:123727864	Conflicting classifications of pathogenicity	Cutis laxa with osteodystrophy ALG9 congenital disorder of glycosylation	Criteria Provided Conflicting Classifications		rs_181112338	2 SubmittersRCV001114577 RCV002054920
NM_012463.4(ATP6V0A2):c.1514+1G>A	SNV Germline	Chr12:123744785	Pathogenic/Likely pathogenic	Condition: not provided Wrinkly skin syndrome Cutis laxa with osteodystrophy ALG9 congenital disorder of glycosylation	Criteria Provided Multiple Submitters No Conflicts	CA223051	rs_374480381	4 SubmittersRCV000174367 RCV002498429 RCV003502514
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	6 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	3 SubmittersRCV000081983 RCV000851242 RCV001857394
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_024079.5(ALG8):c.121C>T (p.Arg41Ter)	SNV Germline	Chr11:78127411	Pathogenic/Likely pathogenic	Condition: not provided ALG8 congenital disorder of glycosylation ALG8 congenital disorder of glycosylation Polycystic liver disease 3 with or without kidney cysts	Criteria Provided Multiple Submitters No Conflicts	CA223729	rs_200888240	5 SubmittersRCV000593262 RCV001334177 RCV002490722
NM_024592.5(SRD5A3):c.57G>A (p.Trp19Ter)	SNV Germline	Chr4:55346393	Pathogenic	Condition: not provided SRD5A3-congenital disorder of glycosylation Autism Global developmental delay Cone dystrophy Congenital disorder of glycosylation Kahrizi syndrome Abnormality of the nervous system	Criteria Provided Multiple Submitters No Conflicts	CA223758	rs_398124401	13 SubmittersRCV000082197 RCV000173528 RCV001003586 RCV000851211 RCV001542529 RCV001814055
NM_024740.2(ALG9):c.694G>C (p.Ala232Pro)	SNV Germline	Chr11:111857609	Conflicting classifications of pathogenicity	Condition: not provided Autosomal dominant polycystic liver disease Gillessen-Kaesbach-Nishimura syndrome ALG9 congenital disorder of glycosylation ALG9 congenital disorder of glycosylation See cases	Criteria Provided Conflicting Classifications	CA223762	rs_36111204	8 SubmittersRCV000082208 RCV000844763 RCV000764952 RCV001331340 RCV002251972
NM_032382.5(COG8):c.1682C>T (p.Thr561Met)	SNV Germline	Chr16:69330996	Conflicting classifications of pathogenicity	not specified Condition: not provided COG8-congenital disorder of glycosylation COG8-related disorder	Criteria Provided Conflicting Classifications	CA223835	rs_143411142	4 SubmittersRCV000082298 RCV000723761 RCV001317887 RCV003964945
NM_153603.4(COG7):c.850A>T (p.Ile284Phe)	SNV Germline	Chr16:23424908	Conflicting classifications of pathogenicity	Condition: not provided COG7 congenital disorder of glycosylation COG7-related disorder	Criteria Provided Conflicting Classifications	CA224200	rs_115605801	3 SubmittersRCV000082677 RCV001397902 RCV003964948
NM_003859.3(DPM1):c.742T>C (p.Ser248Pro)	SNV Germline	Chr20:50935173	Likely pathogenic	Congenital disorder of glycosylation type 1E	Criteria Provided Single Submitter	CA150575	rs_587777114	2 SubmittersRCV000087034
NM_003859.3(DPM1):c.373-5T>A	SNV Germline	Chr20:50945767	Pathogenic	Congenital disorder of glycosylation type 1E	No Assertion Criteria Provided	CA150576	rs_587777115	1 SubmittersRCV000087035
NM_003859.3(DPM1):c.455G>T (p.Gly152Val)	SNV Germline	Chr20:50942070	Pathogenic/Likely pathogenic	Congenital disorder of glycosylation type 1E Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA150577	rs_587777116	4 SubmittersRCV000087036 RCV003148647
NM_152713.5(STT3A):c.1877T>C (p.Val626Ala)	SNV Germline	Chr11:125618475	Likely pathogenic	STT3A-congenital disorder of glycosylation Condition: not provided	Criteria Provided Single Submitter	CA249894	rs_587777216	2 SubmittersRCV000088679 RCV003556159
NM_002633.3(PGM1):c.1547T>C (p.Leu516Pro)	SNV Germline	Chr1:63654414	Pathogenic	PGM1-congenital disorder of glycosylation	No Assertion Criteria Provided	CA156390	rs_587777401	1 SubmittersRCV000119799
NM_002633.3(PGM1):c.112A>T (p.Asn38Tyr)	SNV Germline	Chr1:63593600	Pathogenic	PGM1-congenital disorder of glycosylation	Criteria Provided Single Submitter	CA156391	rs_587777402	2 SubmittersRCV000119800
NM_002633.3(PGM1):c.184G>C (p.Asp62His)	SNV Germline	Chr1:63593672	Conflicting classifications of pathogenicity	PGM1-congenital disorder of glycosylation Condition: not provided	Criteria Provided Conflicting Classifications	CA156392	rs_587777403	3 SubmittersRCV000119801 RCV000733693
NM_002633.3(PGM1):c.787G>T (p.Asp263Tyr)	SNV Germline	Chr1:63634933	Pathogenic	PGM1-congenital disorder of glycosylation PGM1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA156393	rs_587777404	3 SubmittersRCV000119802 RCV004529993
NM_005660.3(SLC35A2):c.638C>T (p.Ser213Phe)	SNV Germline	ChrX:48905271	Pathogenic	SLC35A2-congenital disorder of glycosylation	No Assertion Criteria Provided	CA163127	rs_587777436	1 SubmittersRCV000122746
NM_005216.5(DDOST):c.1148C>T (p.Thr383Ile)	SNV Germline	Chr1:20652643	Conflicting classifications of pathogenicity	Condition: not provided Congenital disorder of glycosylation type Ir DDOST-related disorder	Criteria Provided Conflicting Classifications	CA233896	rs_145940009	3 SubmittersRCV000153147 RCV001081304 RCV003975199
NM_012463.4(ATP6V0A2):c.1486G>A (p.Ala496Thr)	SNV Germline	Chr12:123744756	Conflicting classifications of pathogenicity	not specified Cutis laxa with osteodystrophy Condition: not provided ALG9 congenital disorder of glycosylation ATP6V0A2-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA208571	rs_143142641	10 SubmittersRCV000194414 RCV000322153 RCV000723907 RCV001088927 RCV003895048 RCV003338429
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_024592.5(SRD5A3):c.51G>T (p.Ala17=)	SNV Germline	Chr4:55346387	Conflicting classifications of pathogenicity	not specified SRD5A3-congenital disorder of glycosylation Condition: not provided SRD5A3-related disorder	Criteria Provided Conflicting Classifications	CA238974	rs_201123766	4 SubmittersRCV000173526 RCV001089144 RCV000724785 RCV003955011
NM_024592.5(SRD5A3):c.43C>T (p.Leu15=)	SNV Germline	Chr4:55346379	Conflicting classifications of pathogenicity	not specified Condition: not provided SRD5A3-congenital disorder of glycosylation	Criteria Provided Conflicting Classifications	CA238976	rs_376944136	5 SubmittersRCV000173527 RCV000724316 RCV001088891
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_153603.4(COG7):c.2283C>T (p.Thr761=)	SNV Germline	Chr16:23388950	Conflicting classifications of pathogenicity	not specified COG7 congenital disorder of glycosylation Condition: not provided	Criteria Provided Conflicting Classifications	CA201364	rs_144814374	5 SubmittersRCV000175249 RCV000881030 RCV001815241
NM_012463.4(ATP6V0A2):c.2229T>C (p.Cys743=)	SNV Germline	Chr12:123754473	Conflicting classifications of pathogenicity	Cutis laxa, recessive Condition: not provided ALG9 congenital disorder of glycosylation ATP6V0A2-related disorder	Criteria Provided Conflicting Classifications	CA241054	rs_150508296	7 SubmittersRCV000364298 RCV000724863 RCV001087624 RCV003907567
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_032382.5(COG8):c.597C>T (p.Asn199=)	SNV Germline	Chr16:69335337	Conflicting classifications of pathogenicity	not specified COG8-congenital disorder of glycosylation Condition: not provided	Criteria Provided Conflicting Classifications	CA243564	rs_113642086	4 SubmittersRCV000177389 RCV000352629 RCV000724310
NM_032382.5(COG8):c.1017C>T (p.Gly339=)	SNV Germline	Chr16:69334917	Conflicting classifications of pathogenicity	not specified Condition: not provided COG8-congenital disorder of glycosylation	Criteria Provided Conflicting Classifications	CA243566	rs_72795277	3 SubmittersRCV000177390 RCV000724531 RCV001087736
NM_024592.5(SRD5A3):c.603G>A (p.Trp201Ter)	SNV Germline	Chr4:55367628	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases SRD5A3-congenital disorder of glycosylation Congenital disorder of glycosylation	Criteria Provided Conflicting Classifications	CA275264	rs_765191836	4 SubmittersRCV000178363 RCV000623571 RCV000779444 RCV000851210
NM_002633.3(PGM1):c.1103C>T (p.Ala368Val)	SNV Germline	Chr1:63638759	Conflicting classifications of pathogenicity	Condition: not provided Congenital disorder of glycosylation PGM1-congenital disorder of glycosylation	Criteria Provided Conflicting Classifications	CA247153	rs_145972303	3 SubmittersRCV000179849 RCV000344895 RCV000385150
NM_024079.5(ALG8):c.856T>G (p.Trp286Gly)	SNV Germline	Chr11:78112692	Pathogenic/Likely pathogenic	Condition: not provided ALG8 congenital disorder of glycosylation	Criteria Provided Multiple Submitters No Conflicts	CA247803	rs_794727931	4 SubmittersRCV000180366 RCV000590852
NM_005765.3(ATP6AP2):c.490G>A (p.Val164Ile)	SNV Germline	ChrX:40597620	Conflicting classifications of pathogenicity	Syndromic X-linked intellectual disability Hedera type Syndromic X-linked intellectual disability Hedera type X-linked parkinsonism-spasticity syndrome Condition: not provided Syndromic X-linked intellectual disability Hedera type Congenital disorder of glycosylation, type IIr X-linked parkinsonism-spasticity syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA313354	rs_142013283	4 SubmittersRCV000640918 RCV000767901 RCV001704969 RCV003224203 RCV004020260
NM_024592.5(SRD5A3):c.480C>T (p.Val160=)	SNV Germline	Chr4:55364189	Conflicting classifications of pathogenicity	not specified SRD5A3-congenital disorder of glycosylation	Criteria Provided Conflicting Classifications	CA209270	rs_797046008	2 SubmittersRCV000194835 RCV002054280
NM_024592.5(SRD5A3):c.566A>C (p.Tyr189Ser)	SNV Germline	Chr4:55367591	Conflicting classifications of pathogenicity	not specified SRD5A3-congenital disorder of glycosylation Condition: not provided	Criteria Provided Conflicting Classifications	CA205984	rs_35496669	5 SubmittersRCV000192865 RCV000872899 RCV001705093
NM_012463.4(ATP6V0A2):c.2238C>T (p.Cys746=)	SNV Germline	Chr12:123754482	Conflicting classifications of pathogenicity	not specified Condition: not provided Cutis laxa with osteodystrophy ALG9 congenital disorder of glycosylation ATP6V0A2-related disorder	Criteria Provided Conflicting Classifications	CA209642	rs_138886791	8 SubmittersRCV000195070 RCV000871111 RCV001109061 RCV001088570 RCV003917736
NM_001164277.2(SLC37A4):c.497G>A (p.Arg166His)	SNV Germline	Chr11:119027757	Conflicting classifications of pathogenicity	Condition: not provided Glucose-6-phosphate transport defect Phosphate transport defect Glucose-6-phosphate transport defect Phosphate transport defect Glucose-6-phosphate transport defect Congenital disorder of glycosylation, type IIw SLC37A4-related disorder	Criteria Provided Conflicting Classifications	CA323754	rs_186476316	6 SubmittersRCV000199219 RCV001084902 RCV001027800 RCV003224223 RCV003955196
NM_001382.4(DPAGT1):c.584C>G (p.Ala195Gly)	SNV Germline	Chr11:119100321	Pathogenic	DPAGT1-congenital disorder of glycosylation Congenital disorder of glycosylation	Criteria Provided Single Submitter	CA279840	rs_863225088	2 SubmittersRCV000202322 RCV001291450
NM_024079.5(ALG8):c.96-6G>C	SNV Germline	Chr11:78127442	Conflicting classifications of pathogenicity	not specified ALG8 congenital disorder of glycosylation Condition: not provided	Criteria Provided Conflicting Classifications	CA249119	rs_199911532	4 SubmittersRCV000202922 RCV000547349 RCV003390947
NM_002408.4(MGAT2):c.99G>T (p.Lys33Asn)	SNV Germline	Chr14:49621367	Conflicting classifications of pathogenicity	not specified MGAT2-congenital disorder of glycosylation Inborn genetic diseases Condition: not provided MGAT2-related disorder	Criteria Provided Conflicting Classifications	CA248876	rs_140584714	6 SubmittersRCV000202676 RCV000864413 RCV002515496 RCV001722114 RCV003937766
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 ALG1-related disorder Congenital disorder of glycosylation type I	Criteria Provided Multiple Submitters No Conflicts	CA211937	rs_369160589	14 SubmittersRCV000209837 RCV000413040 RCV000851246 RCV001526586 RCV003417756 RCV003225934
NM_005660.3(SLC35A2):c.800A>G (p.Tyr267Cys)	SNV Germline	ChrX:48905109	Likely pathogenic	SLC35A2-congenital disorder of glycosylation	Criteria Provided Single Submitter	CA357924	rs_869312860	1 SubmittersRCV000210405
NM_153603.4(COG7):c.2087C>T (p.Ala696Val)	SNV Germline	Chr16:23392439	Conflicting classifications of pathogenicity	Condition: not provided COG7 congenital disorder of glycosylation Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7960795	rs_376170815	4 SubmittersRCV000224383 RCV002519759 RCV004020722
NM_002633.3(PGM1):c.1107C>A (p.Ser369Arg)	SNV Germline	Chr1:63638763	Conflicting classifications of pathogenicity	not specified PGM1-congenital disorder of glycosylation Congenital disorder of glycosylation PGM1-related disorder	Criteria Provided Conflicting Classifications	CA889720	rs_200407907	5 SubmittersRCV000239180 RCV000290737 RCV000340998 RCV004541474
NM_024079.5(ALG8):c.369-6A>G	SNV Germline	Chr11:78121180	Conflicting classifications of pathogenicity	not specified ALG8 congenital disorder of glycosylation Condition: not provided ALG8-related disorder	Criteria Provided Conflicting Classifications	CA6203497	rs_201483866	4 SubmittersRCV000238928 RCV000872008 RCV003480572 RCV004541473
NM_138459.5(NUS1):c.869G>A (p.Arg290His)	SNV Germline	Chr6:117707002	Conflicting classifications of pathogenicity	Congenital disorder of glycosylation, type IAA Intellectual disability, autosomal dominant 55, with seizures Congenital disorder of glycosylation	Criteria Provided Conflicting Classifications	CA10586234	rs_886037858	4 SubmittersRCV000239673 RCV001253663 RCV001262137
NM_003859.3(DPM1):c.22C>T (p.Arg8Cys)	SNV Germline	Chr20:50958502	Conflicting classifications of pathogenicity	not specified Congenital disorder of glycosylation type 1E Condition: not provided	Criteria Provided Conflicting Classifications	CA9909270	rs_201392536	4 SubmittersRCV000248387 RCV000310194 RCV000893854
NM_024079.5(ALG8):c.1090C>T (p.Arg364Ter)	SNV Germline	Chr11:78106895	Pathogenic/Likely pathogenic	Condition: not provided Polycystic liver disease 3 with or without kidney cysts Polycystic liver disease 3 with or without kidney cysts ALG8 congenital disorder of glycosylation ALG8 congenital disorder of glycosylation See cases Inborn genetic diseases Autosomal dominant polycystic liver disease	Criteria Provided Multiple Submitters No Conflicts	CA6203220	rs_376161880	16 SubmittersRCV000356855 RCV000584794 RCV001535890 RCV001843038 RCV002252077 RCV002519040 RCV003448977
NM_005660.3(SLC35A2):c.826C>T (p.Leu276Phe)	SNV Germline	ChrX:48905083	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases SLC35A2-congenital disorder of glycosylation	Criteria Provided Conflicting Classifications	CA10406092	rs_782737391	3 SubmittersRCV000377201 RCV002429215 RCV002521886
NM_012463.4(ATP6V0A2):c.522-9G>A	SNV Germline	Chr12:123727774	Conflicting classifications of pathogenicity	Condition: not provided Cutis laxa with osteodystrophy ALG9 congenital disorder of glycosylation ATP6V0A2-related disorder	Criteria Provided Conflicting Classifications	CA6861659	rs_189175284	4 SubmittersRCV000277913 RCV000399420 RCV002059154 RCV003920076
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_032382.5(COG8):c.1079G>A (p.Gly360Glu)	SNV Germline	Chr16:69334855	Conflicting classifications of pathogenicity	Condition: not provided COG8-congenital disorder of glycosylation Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA8133793	rs_142169776	4 SubmittersRCV000725740 RCV000820727 RCV004021185
NM_012463.4(ATP6V0A2):c.1458G>A (p.Ser486=)	SNV Germline	Chr12:123744728	Conflicting classifications of pathogenicity	Condition: not provided ALG9 congenital disorder of glycosylation	Criteria Provided Conflicting Classifications	CA6861929	rs_146156426	3 SubmittersRCV000317767 RCV002059192
NM_012463.4(ATP6V0A2):c.1521C>T (p.Ser507=)	SNV Germline	Chr12:123744888	Conflicting classifications of pathogenicity	Condition: not provided ALG9 congenital disorder of glycosylation ATP6V0A2-related disorder	Criteria Provided Conflicting Classifications	CA6861955	rs_142454880	4 SubmittersRCV000399908 RCV001088720 RCV003957452
NM_032382.5(COG8):c.1006C>T (p.Arg336Trp)	SNV Germline	Chr16:69334928	Conflicting classifications of pathogenicity	Condition: not provided COG8-congenital disorder of glycosylation Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA8133807	rs_757877420	4 SubmittersRCV000334221 RCV000381358 RCV002519235
NM_002633.3(PGM1):c.1600-3C>T	SNV Germline	Chr1:63659583	Conflicting classifications of pathogenicity	Condition: not provided not specified PGM1-congenital disorder of glycosylation	Criteria Provided Conflicting Classifications	CA889930	rs_375450688	4 SubmittersRCV000341788 RCV001820843 RCV002518157
NM_005216.4(DDOST):c.16T>G (p.Cys6Gly)	SNV Germline	Chr1:20661386	Conflicting classifications of pathogenicity	Congenital disorder of glycosylation type Ir not specified	Criteria Provided Conflicting Classifications		rs_149951380	2 SubmittersRCV003074705 RCV004071690
NM_002633.3(PGM1):c.1144+10A>G	SNV Germline	Chr1:63638810	Conflicting classifications of pathogenicity	Congenital disorder of glycosylation PGM1-congenital disorder of glycosylation not specified	Criteria Provided Conflicting Classifications	CA10610247	rs_886046482	3 SubmittersRCV000342378 RCV000402379 RCV000606435
NM_002633.3(PGM1):c.900T>C (p.His300=)	SNV Germline	Chr1:63636260	Conflicting classifications of pathogenicity	Congenital disorder of glycosylation PGM1-congenital disorder of glycosylation not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA889660	rs_145807501	4 SubmittersRCV000319337 RCV000373876 RCV000445024 RCV003884452
NM_002633.3(PGM1):c.420A>G (p.Pro140=)	SNV Germline	Chr1:63629952	Conflicting classifications of pathogenicity	PGM1-congenital disorder of glycosylation Congenital disorder of glycosylation not specified	Criteria Provided Conflicting Classifications	CA889543	rs_141007881	3 SubmittersRCV000310353 RCV000398517 RCV000438626
NM_002633.3(PGM1):c.1400C>A (p.Thr467Asn)	SNV Germline	Chr1:63651788	Conflicting classifications of pathogenicity	Congenital disorder of glycosylation PGM1-congenital disorder of glycosylation PGM1-related disorder	Criteria Provided Conflicting Classifications	CA889820	rs_150266274	3 SubmittersRCV000284167 RCV000383241 RCV004537682
NM_002633.3(PGM1):c.1028+11C>A	SNV Germline	Chr1:63636399	Conflicting classifications of pathogenicity	PGM1-congenital disorder of glycosylation Congenital disorder of glycosylation not specified	Criteria Provided Conflicting Classifications	CA889687	rs_541069522	3 SubmittersRCV000294565 RCV000388782 RCV000425152
NM_005787.6(ALG3):c.777C>T (p.Ser259=)	SNV Germline	Chr3:184243946	Conflicting classifications of pathogenicity	ALG3-congenital disorder of glycosylation not specified	Criteria Provided Conflicting Classifications	CA2729420	rs_142901178	3 SubmittersRCV000344357 RCV000606742
NM_005787.6(ALG3):c.1084G>A (p.Val362Ile)	SNV Germline	Chr3:184242883	Conflicting classifications of pathogenicity	Condition: not provided ALG3-congenital disorder of glycosylation	Criteria Provided Conflicting Classifications	CA2729324	rs_186946267	6 SubmittersRCV000514292 RCV001087479
NM_005787.6(ALG3):c.477C>T (p.Cys159=)	SNV Germline	Chr3:184245326	Conflicting classifications of pathogenicity	Congenital disorder of glycosylation Condition: not provided ALG3-congenital disorder of glycosylation	Criteria Provided Conflicting Classifications	CA2729524	rs_201087932	3 SubmittersRCV000392229 RCV000840746 RCV002061231
NM_005787.6(ALG3):c.222C>T (p.Tyr74=)	SNV Germline	Chr3:184245787	Conflicting classifications of pathogenicity	not specified ALG3-congenital disorder of glycosylation Condition: not provided	Criteria Provided Conflicting Classifications	CA2729611	rs_200875721	4 SubmittersRCV000433733 RCV000872805 RCV003437091
NM_005787.6(ALG3):c.933-4C>T	SNV Germline	Chr3:184243634	Conflicting classifications of pathogenicity	not specified ALG3-congenital disorder of glycosylation ALG3-related disorder	Criteria Provided Conflicting Classifications	CA2729374	rs_190571910	4 SubmittersRCV000600812 RCV000960246 RCV003910352
NM_005787.6(ALG3):c.606-8C>T	SNV Germline	Chr3:184244729	Conflicting classifications of pathogenicity	ALG3-congenital disorder of glycosylation	Criteria Provided Conflicting Classifications	CA2729466	rs_368253820	2 SubmittersRCV000871461
NM_005787.6(ALG3):c.297-6T>C	SNV Germline	Chr3:184245621	Conflicting classifications of pathogenicity	ALG3-congenital disorder of glycosylation	Criteria Provided Conflicting Classifications	CA2729579	rs_371534425	2 SubmittersRCV000360885
NM_005787.6(ALG3):c.845C>T (p.Ala282Val)	SNV Germline	Chr3:184243878	Conflicting classifications of pathogenicity	Condition: not provided ALG3-congenital disorder of glycosylation ALG3-related disorder	Criteria Provided Conflicting Classifications	CA2729408	rs_2233466	4 SubmittersRCV000513893 RCV001083072 RCV003969992
NM_005787.6(ALG3):c.51A>G (p.Ala17=)	SNV Germline	Chr3:184248890	Conflicting classifications of pathogenicity	ALG3-congenital disorder of glycosylation Condition: not provided	Criteria Provided Conflicting Classifications	CA2729664	rs_763727038	3 SubmittersRCV000305062 RCV000872223
NM_024592.5(SRD5A3):c.110C>T (p.Pro37Leu)	SNV Germline	Chr4:55346446	Conflicting classifications of pathogenicity	SRD5A3-congenital disorder of glycosylation Condition: not provided SRD5A3-related disorder	Criteria Provided Conflicting Classifications	CA2925208	rs_199975696	4 SubmittersRCV000892061 RCV001556869 RCV003972471
NM_006765.4(TUSC3):c.768T>C (p.Tyr256=)	SNV Germline	Chr8:15673806	Conflicting classifications of pathogenicity	Congenital disorder of glycosylation Intellectual disability, autosomal recessive 7 not specified Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA4640551	rs_149033081	4 SubmittersRCV000310777 RCV000910759 RCV001821102 RCV002317859
NM_006765.4(TUSC3):c.*1665T>C	SNV Germline	Chr8:15765821	Conflicting classifications of pathogenicity	Congenital disorder of glycosylation Condition: not provided	Criteria Provided Conflicting Classifications	CA10625063	rs_562496423	2 SubmittersRCV000260887 RCV003437136
NM_001382.4(DPAGT1):c.1221T>C (p.Asp407=)	SNV Germline	Chr11:119097004	Conflicting classifications of pathogenicity	DPAGT1-congenital disorder of glycosylation DPAGT1-congenital disorder of glycosylation Congenital myasthenic syndrome 13	Criteria Provided Conflicting Classifications	CA6314416	rs_772133269	2 SubmittersRCV000297364 RCV001417521
NM_001382.4(DPAGT1):c.717C>T (p.Leu239=)	SNV Germline	Chr11:119098414	Conflicting classifications of pathogenicity	DPAGT1-congenital disorder of glycosylation Congenital myasthenic syndrome 13 DPAGT1-congenital disorder of glycosylation Condition: not provided DPAGT1-related disorder	Criteria Provided Conflicting Classifications	CA6314562	rs_377263230	4 SubmittersRCV000305475 RCV000877368 RCV003422230 RCV003967867
NM_001382.4(DPAGT1):c.96C>T (p.Phe32=)	SNV Germline	Chr11:119101560	Conflicting classifications of pathogenicity	DPAGT1-congenital disorder of glycosylation DPAGT1-congenital disorder of glycosylation Congenital myasthenic syndrome 13	Criteria Provided Conflicting Classifications	CA6314727	rs_779048359	2 SubmittersRCV000381452 RCV001452965
NM_001382.3(DPAGT1):c.-349T>C	SNV Germline	Chr11:119102004	Conflicting classifications of pathogenicity	Congenital disorder of glycosylation Condition: not provided	Criteria Provided Conflicting Classifications	CA10629945	rs_141116509	2 SubmittersRCV000350240 RCV001556680
NM_006765.4(TUSC3):c.*1531A>G	SNV Germline	Chr8:15765687	Conflicting classifications of pathogenicity	Congenital disorder of glycosylation Condition: not provided	Criteria Provided Conflicting Classifications	CA10630520	rs_190430215	2 SubmittersRCV000353501 RCV002275016
NM_024079.5(ALG8):c.1460A>G (p.Tyr487Cys)	SNV Germline	Chr11:78101085	Conflicting classifications of pathogenicity	ALG8 congenital disorder of glycosylation Polycystic liver disease 3 with or without kidney cysts ALG8 congenital disorder of glycosylation	Criteria Provided Conflicting Classifications	CA6203119	rs_777557874	3 SubmittersRCV000285593 RCV002494955
NM_024079.5(ALG8):c.251A>G (p.Tyr84Cys)	SNV Germline	Chr11:78124138	Conflicting classifications of pathogenicity	ALG8 congenital disorder of glycosylation Condition: not provided ALG8-related disorder	Criteria Provided Conflicting Classifications	CA6203545	rs_61995921	6 SubmittersRCV000660405 RCV003137913 RCV004544523
NM_012463.4(ATP6V0A2):c.264G>A (p.Ala88=)	SNV Germline	Chr12:123722418	Conflicting classifications of pathogenicity	Cutis laxa with osteodystrophy Condition: not provided ALG9 congenital disorder of glycosylation ATP6V0A2-related disorder	Criteria Provided Conflicting Classifications	CA6861539	rs_139785866	4 SubmittersRCV000394202 RCV000884990 RCV002056276 RCV003967885
NM_024740.2(ALG9):c.*1680G>T	SNV Germline	Chr11:111784717	Conflicting classifications of pathogenicity	ALG9 congenital disorder of glycosylation Condition: not provided	Criteria Provided Conflicting Classifications	CA10633429	rs_563719515	2 SubmittersRCV000330109 RCV003391065
NM_024079.5(ALG8):c.441A>T (p.Val147=)	SNV Germline	Chr11:78121102	Conflicting classifications of pathogenicity	ALG8 congenital disorder of glycosylation ALG8-related disorder	Criteria Provided Conflicting Classifications	CA6203482	rs_112109685	3 SubmittersRCV000974741 RCV004544522
NM_024079.5(ALG8):c.32G>C (p.Gly11Ala)	SNV Germline	Chr11:78139557	Conflicting classifications of pathogenicity	Congenital disorder of glycosylation ALG8 congenital disorder of glycosylation	Criteria Provided Conflicting Classifications	CA6203607	rs_538716086	2 SubmittersRCV000283611 RCV002522212
NM_012463.4(ATP6V0A2):c.993C>T (p.Pro331=)	SNV Germline	Chr12:123737226	Conflicting classifications of pathogenicity	Cutis laxa with osteodystrophy Condition: not provided ALG9 congenital disorder of glycosylation ATP6V0A2-related disorder	Criteria Provided Conflicting Classifications	CA6861784	rs_367873118	5 SubmittersRCV000328554 RCV001697658 RCV002520795 RCV003897705
NM_012463.4(ATP6V0A2):c.2014T>C (p.Leu672=)	SNV Germline	Chr12:123751188	Conflicting classifications of pathogenicity	Cutis laxa with osteodystrophy ALG9 congenital disorder of glycosylation Condition: not provided	Criteria Provided Conflicting Classifications	CA6862089	rs_367950442	3 SubmittersRCV000401678 RCV000865321 RCV001718625
NM_001164277.2(SLC37A4):c.492C>T (p.Ser164=)	SNV Germline	Chr11:119027762	Conflicting classifications of pathogenicity	Glycogen storage disease, type I Glucose-6-phosphate transport defect not specified Phosphate transport defect Glucose-6-phosphate transport defect Congenital disorder of glycosylation, type IIw Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA6311827	rs_369399624	5 SubmittersRCV000392366 RCV000936549 RCV001280604 RCV003224255 RCV004021499
NM_001382.4(DPAGT1):c.918-4G>A	SNV Germline	Chr11:119097555	Conflicting classifications of pathogenicity	DPAGT1-congenital disorder of glycosylation Congenital myasthenic syndrome 13 DPAGT1-congenital disorder of glycosylation Condition: not provided	Criteria Provided Conflicting Classifications	CA6314492	rs_201656540	4 SubmittersRCV000266803 RCV000650503 RCV001705452
NM_001382.4(DPAGT1):c.283-9C>T	SNV Germline	Chr11:119100852	Conflicting classifications of pathogenicity	DPAGT1-congenital disorder of glycosylation DPAGT1-congenital disorder of glycosylation Congenital myasthenic syndrome 13	Criteria Provided Conflicting Classifications	CA6314662	rs_746355462	2 SubmittersRCV000265560 RCV001495744
NM_153603.4(COG7):c.1410-6G>C	SNV Germline	Chr16:23410366	Conflicting classifications of pathogenicity	COG7 congenital disorder of glycosylation	Criteria Provided Conflicting Classifications	CA7960978	rs_369925503	2 SubmittersRCV000395657
NM_032382.5(COG8):c.903C>G (p.Pro301=)	SNV Germline	Chr16:69335031	Conflicting classifications of pathogenicity	not specified COG8-congenital disorder of glycosylation	Criteria Provided Conflicting Classifications	CA8133836	rs_140736262	3 SubmittersRCV000434488 RCV000873067
NM_024079.5(ALG8):c.1211C>T (p.Ser404Leu)	SNV Germline	Chr11:78104421	Conflicting classifications of pathogenicity	Condition: not provided ALG8 congenital disorder of glycosylation	Criteria Provided Conflicting Classifications	CA6203184	rs_146603801	5 SubmittersRCV000734273 RCV001078924
NM_002408.4(MGAT2):c.63C>T (p.Gly21=)	SNV Germline	Chr14:49621331	Conflicting classifications of pathogenicity	not specified MGAT2-congenital disorder of glycosylation MGAT2-related disorder	Criteria Provided Conflicting Classifications	CA7172457	rs_146729850	4 SubmittersRCV000426874 RCV000872103 RCV003930338
NM_002408.4(MGAT2):c.1233A>T (p.Leu411=)	SNV Germline	Chr14:49622501	Conflicting classifications of pathogenicity	Congenital disorder of glycosylation not specified MGAT2-congenital disorder of glycosylation	Criteria Provided Conflicting Classifications	CA7172653	rs_563513161	3 SubmittersRCV000406511 RCV000607723 RCV001111658
NM_024079.5(ALG8):c.984C>A (p.Val328=)	SNV Germline	Chr11:78109496	Conflicting classifications of pathogenicity	ALG8 congenital disorder of glycosylation	Criteria Provided Conflicting Classifications	CA6203257	rs_757467776	2 SubmittersRCV000391943
NM_024079.5(ALG8):c.675T>C (p.Asp225=)	SNV Germline	Chr11:78113988	Conflicting classifications of pathogenicity	ALG8 congenital disorder of glycosylation ALG8-related disorder	Criteria Provided Conflicting Classifications	CA6203372	rs_139106381	3 SubmittersRCV000870878 RCV004537726
NM_004870.4(MPDU1):c.43C>T (p.Pro15Ser)	SNV Germline	Chr17:7583905	Conflicting classifications of pathogenicity	Condition: not provided MPDU1-congenital disorder of glycosylation not specified	Criteria Provided Conflicting Classifications	CA8352805	rs_148935720	5 SubmittersRCV000444051 RCV001089405 RCV003488544
NM_004870.4(MPDU1):c.393C>T (p.Val131=)	SNV Germline	Chr17:7586903	Conflicting classifications of pathogenicity	MPDU1-congenital disorder of glycosylation Condition: not provided	Criteria Provided Conflicting Classifications	CA8352939	rs_79286384	4 SubmittersRCV000875766 RCV001718681
NM_012463.4(ATP6V0A2):c.312C>T (p.Leu104=)	SNV Germline	Chr12:123724671	Conflicting classifications of pathogenicity	Cutis laxa with osteodystrophy Condition: not provided ALG9 congenital disorder of glycosylation	Criteria Provided Conflicting Classifications	CA6861576	rs_563333869	3 SubmittersRCV000338336 RCV000910841 RCV002056277
NM_012463.4(ATP6V0A2):c.614C>T (p.Ala205Val)	SNV Germline	Chr12:123727875	Conflicting classifications of pathogenicity	Cutis laxa with osteodystrophy not specified ALG9 congenital disorder of glycosylation Cutis laxa with osteodystrophy Wrinkly skin syndrome Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA6861676	rs_143802431	6 SubmittersRCV000310903 RCV000493630 RCV000872211 RCV000763803 RCV001705460 RCV004021535
NM_153603.4(COG7):c.2052G>A (p.Ser684=)	SNV Germline	Chr16:23392474	Conflicting classifications of pathogenicity	not specified COG7 congenital disorder of glycosylation Condition: not provided	Criteria Provided Conflicting Classifications	CA7960800	rs_142744907	4 SubmittersRCV000419953 RCV000871112 RCV001531847
NM_153603.4(COG7):c.1971C>T (p.His657=)	SNV Germline	Chr16:23393264	Conflicting classifications of pathogenicity	COG7 congenital disorder of glycosylation Condition: not provided	Criteria Provided Conflicting Classifications	CA7960825	rs_114458562	3 SubmittersRCV000375817 RCV000864316
NM_153603.4(COG7):c.1455C>T (p.Phe485=)	SNV Germline	Chr16:23410315	Conflicting classifications of pathogenicity	not specified COG7 congenital disorder of glycosylation Condition: not provided	Criteria Provided Conflicting Classifications	CA7960972	rs_116153163	4 SubmittersRCV000615369 RCV000870600 RCV003417995
NM_153603.4(COG7):c.1178A>G (p.His393Arg)	SNV Germline	Chr16:23417081	Conflicting classifications of pathogenicity	Condition: not provided COG7 congenital disorder of glycosylation COG7-related disorder	Criteria Provided Conflicting Classifications	CA7961056	rs_116331296	6 SubmittersRCV000827212 RCV001081679 RCV003940247
NM_153603.4(COG7):c.963C>T (p.Thr321=)	SNV Germline	Chr16:23424795	Conflicting classifications of pathogenicity	COG7 congenital disorder of glycosylation	Criteria Provided Conflicting Classifications	CA7961128	rs_762510375	2 SubmittersRCV000296980
NM_002408.4(MGAT2):c.-443C>T	SNV Germline	Chr14:49620826	Conflicting classifications of pathogenicity	Congenital disorder of glycosylation MGAT2-congenital disorder of glycosylation Condition: not provided	Criteria Provided Conflicting Classifications	CA10645393	rs_3007037	2 SubmittersRCV000267925 RCV001109234 RCV001571379
NM_002408.4(MGAT2):c.*366C>G	SNV Germline	Chr14:49622978	Conflicting classifications of pathogenicity	Congenital disorder of glycosylation MGAT2-congenital disorder of glycosylation	Criteria Provided Conflicting Classifications	CA10645404	rs_1011373	1 SubmittersRCV000273304 RCV001112128
NM_153603.4(COG7):c.900C>T (p.Asn300=)	SNV Germline	Chr16:23424858	Conflicting classifications of pathogenicity	COG7 congenital disorder of glycosylation not specified	Criteria Provided Conflicting Classifications	CA7961147	rs_112611398	3 SubmittersRCV000354322 RCV000418172
NM_032382.5(COG8):c.1692C>T (p.Thr564=)	SNV Germline	Chr16:69330986	Conflicting classifications of pathogenicity	COG8-congenital disorder of glycosylation Condition: not provided	Criteria Provided Conflicting Classifications	CA8133616	rs_199504043	2 SubmittersRCV000266185 RCV000957482
NM_032382.5(COG8):c.249C>G (p.Ala83=)	SNV Germline	Chr16:69339304	Conflicting classifications of pathogenicity	COG8-congenital disorder of glycosylation	Criteria Provided Conflicting Classifications	CA8134030	rs_144030835	2 SubmittersRCV000874931
NM_153603.4(COG7):c.1890C>A (p.Ile630=)	SNV Germline	Chr16:23393345	Conflicting classifications of pathogenicity	COG7 congenital disorder of glycosylation not specified	Criteria Provided Conflicting Classifications	CA10648122	rs_199904223	3 SubmittersRCV000278924 RCV000600190
NM_153603.4(COG7):c.1804-13G>A	SNV Germline	Chr16:23398142	Conflicting classifications of pathogenicity	COG7 congenital disorder of glycosylation	Criteria Provided Conflicting Classifications	CA7960869	rs_759680428	2 SubmittersRCV000296660
NM_153603.4(COG7):c.1137+11A>C	SNV Germline	Chr16:23418689	Conflicting classifications of pathogenicity	COG7 congenital disorder of glycosylation not specified	Criteria Provided Conflicting Classifications	CA7961076	rs_74012174	3 SubmittersRCV000359547 RCV000616074
NM_153603.4(COG7):c.1005C>T (p.His335=)	SNV Germline	Chr16:23424753	Conflicting classifications of pathogenicity	COG7 congenital disorder of glycosylation	Criteria Provided Conflicting Classifications	CA7961113	rs_532636981	2 SubmittersRCV000262945
NM_153603.4(COG7):c.406G>A (p.Ala136Thr)	SNV Germline	Chr16:23445077	Conflicting classifications of pathogenicity	Condition: not provided COG7 congenital disorder of glycosylation Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7961315	rs_149163316	4 SubmittersRCV000514059 RCV001080981 RCV002520999
NM_153603.4(COG7):c.170-4A>G	SNV Germline	Chr16:23445965	Conflicting classifications of pathogenicity	COG7 congenital disorder of glycosylation COG7-related disorder	Criteria Provided Conflicting Classifications	CA7961366	rs_544015151	3 SubmittersRCV000286753 RCV003940248
NM_153603.4(COG7):c.75C>G (p.Ser25=)	SNV Germline	Chr16:23452920	Conflicting classifications of pathogenicity	not specified COG7 congenital disorder of glycosylation	Criteria Provided Conflicting Classifications	CA7961427	rs_149481813	3 SubmittersRCV000430425 RCV000951222
NM_032382.5(COG8):c.1620A>C (p.Leu540=)	SNV Germline	Chr16:69331058	Conflicting classifications of pathogenicity	Congenital disorder of glycosylation COG8-congenital disorder of glycosylation Condition: not provided	Criteria Provided Conflicting Classifications	CA8133638	rs_189199610	3 SubmittersRCV000321381 RCV000875958 RCV001712107
NM_032382.5(COG8):c.585+8C>T	SNV Germline	Chr16:69336497	Conflicting classifications of pathogenicity	COG8-congenital disorder of glycosylation not specified	Criteria Provided Conflicting Classifications	CA8133925	rs_562484375	2 SubmittersRCV000398625 RCV000608305
NM_004870.4(MPDU1):c.121C>G (p.Leu41Val)	SNV Germline	Chr17:7585749	Conflicting classifications of pathogenicity	MPDU1-congenital disorder of glycosylation	Criteria Provided Conflicting Classifications	CA8352843	rs_199498675	2 SubmittersRCV000276318
NM_004870.4(MPDU1):c.411C>T (p.Tyr137=)	SNV Germline	Chr17:7586921	Conflicting classifications of pathogenicity	MPDU1-congenital disorder of glycosylation not specified MPDU1-related disorder	Criteria Provided Conflicting Classifications	CA8352946	rs_142551371	4 SubmittersRCV000275496 RCV000418074 RCV003922383
NM_004870.3(MPDU1):c.-36C>T	SNV Germline	Chr17:7583827	Conflicting classifications of pathogenicity	Congenital disorder of glycosylation not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA8352786	rs_370389790	3 SubmittersRCV000297670 RCV000419122 RCV000767322
NM_003859.3(DPM1):c.759A>G (p.Leu253=)	SNV Germline	Chr20:50935156	Conflicting classifications of pathogenicity	Congenital disorder of glycosylation type 1E DPM1-related disorder	Criteria Provided Conflicting Classifications	CA9908991	rs_769964944	3 SubmittersRCV000293892 RCV003969975
NM_003859.3(DPM1):c.295+8G>A	SNV Germline	Chr20:50948621	Conflicting classifications of pathogenicity	Congenital disorder of glycosylation type 1E	Criteria Provided Conflicting Classifications	CA10653228	rs_758553918	2 SubmittersRCV000882123
NM_003859.3(DPM1):c.161+10C>T	SNV Germline	Chr20:50958353	Conflicting classifications of pathogenicity	not specified Congenital disorder of glycosylation type 1E	Criteria Provided Conflicting Classifications	CA9909225	rs_779869066	3 SubmittersRCV000436227 RCV000402745
NM_003859.3(DPM1):c.84G>A (p.Ser28=)	SNV Germline	Chr20:50958440	Conflicting classifications of pathogenicity	Congenital disorder of glycosylation type 1E	Criteria Provided Conflicting Classifications	CA9909242	rs_16995639	2 SubmittersRCV000544287
NM_003859.3(DPM1):c.40C>T (p.Arg14Trp)	SNV Germline	Chr20:50958484	Conflicting classifications of pathogenicity	Congenital disorder of glycosylation type 1E Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA9909261	rs_117175017	5 SubmittersRCV000398073 RCV000553888 RCV000494117
NM_024740.2(ALG9):c.1659C>T (p.Pro553=)	SNV Germline	Chr11:111809717	Conflicting classifications of pathogenicity	Condition: not provided not specified ALG9 congenital disorder of glycosylation	Criteria Provided Conflicting Classifications	CA6274362	rs_2276263	3 SubmittersRCV000416091 RCV000602616 RCV001085276
NM_001382.4(DPAGT1):c.573C>T (p.Asn191=)	SNV Germline	Chr11:119100332	Conflicting classifications of pathogenicity	DPAGT1-congenital disorder of glycosylation Congenital myasthenic syndrome 13 DPAGT1-congenital disorder of glycosylation Condition: not provided	Criteria Provided Conflicting Classifications	CA6314600	rs_62641715	3 SubmittersRCV000872957 RCV001108107 RCV001698170
NM_033087.4(ALG2):c.475A>G (p.Ile159Val)	SNV Germline	Chr9:99218710	Conflicting classifications of pathogenicity	ALG2-congenital disorder of glycosylation Congenital myasthenic syndrome 14 Condition: not provided See cases ALG2-related disorder	Criteria Provided Conflicting Classifications	CA5156309	rs_146770430	7 SubmittersRCV000766035 RCV001572637 RCV002252128 RCV003912763
NM_033087.4(ALG2):c.167C>T (p.Pro56Leu)	SNV Germline	Chr9:99221728	Conflicting classifications of pathogenicity	not specified Congenital myasthenic syndrome 14 ALG2-congenital disorder of glycosylation Condition: not provided	Criteria Provided Conflicting Classifications	CA5156463	rs_201959100	4 SubmittersRCV000428835 RCV000538249 RCV003480628
NM_012463.4(ATP6V0A2):c.1189+12G>T	SNV Germline	Chr12:123743947	Conflicting classifications of pathogenicity	not specified Cutis laxa with osteodystrophy ALG9 congenital disorder of glycosylation	Criteria Provided Conflicting Classifications	CA6861863	rs_377235629	3 SubmittersRCV000433780 RCV001113314 RCV002063585
NM_001382.4(DPAGT1):c.729-4A>C	SNV Germline	Chr11:119098047	Conflicting classifications of pathogenicity	not specified DPAGT1-congenital disorder of glycosylation Congenital myasthenic syndrome 13 DPAGT1-congenital disorder of glycosylation Inborn genetic diseases DPAGT1-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA6314539	rs_199873583	6 SubmittersRCV000440337 RCV000650502 RCV001108106 RCV002521787 RCV003912721 RCV004546495
NM_001382.4(DPAGT1):c.1A>C (p.Met1Leu)	SNV Germline	Chr11:119101655	Pathogenic/Likely pathogenic	Condition: not provided Congenital myasthenic syndrome 13 DPAGT1-congenital disorder of glycosylation	Criteria Provided Multiple Submitters No Conflicts	CA16606252	rs_1057521151	2 SubmittersRCV000438342 RCV000686050
NM_002408.4(MGAT2):c.1023T>C (p.Tyr341=)	SNV Germline	Chr14:49622291	Conflicting classifications of pathogenicity	not specified MGAT2-congenital disorder of glycosylation	Criteria Provided Conflicting Classifications	CA7172631	rs_111486860	3 SubmittersRCV000442827 RCV001111657
NM_024740.2(ALG9):c.1383C>T (p.Thr461=)	SNV Germline	Chr11:111837557	Conflicting classifications of pathogenicity	not specified Condition: not provided ALG9 congenital disorder of glycosylation ALG9-related disorder	Criteria Provided Conflicting Classifications	CA6274434	rs_45516107	7 SubmittersRCV000430170 RCV000513785 RCV001083045 RCV003912644
NM_001382.4(DPAGT1):c.243C>T (p.Cys81=)	SNV Germline	Chr11:119101057	Conflicting classifications of pathogenicity	not specified Congenital myasthenic syndrome 13 DPAGT1-congenital disorder of glycosylation DPAGT1-congenital disorder of glycosylation Condition: not provided	Criteria Provided Conflicting Classifications	CA6314687	rs_138519099	4 SubmittersRCV000434908 RCV000650501 RCV001102884 RCV001288945
NM_153603.4(COG7):c.2013G>A (p.Leu671=)	SNV Germline	Chr16:23392513	Conflicting classifications of pathogenicity	not specified Condition: not provided COG7 congenital disorder of glycosylation	Criteria Provided Conflicting Classifications	CA7960804	rs_370447404	4 SubmittersRCV000425895 RCV000726767 RCV001087142
NM_012463.4(ATP6V0A2):c.422G>T (p.Arg141Leu)	SNV Germline	Chr12:123724781	Conflicting classifications of pathogenicity	not specified Condition: not provided Cutis laxa with osteodystrophy Wrinkly skin syndrome Cutis laxa with osteodystrophy ALG9 congenital disorder of glycosylation	Criteria Provided Conflicting Classifications	CA6861598	rs_143509747	8 SubmittersRCV000423155 RCV000729905 RCV000763802 RCV001113218 RCV001861625
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_032382.5(COG8):c.996C>T (p.Thr332=)	SNV Germline	Chr16:69334938	Conflicting classifications of pathogenicity	not specified COG8-congenital disorder of glycosylation	Criteria Provided Conflicting Classifications	CA8133813	rs_571595612	3 SubmittersRCV000419551 RCV001118220
NM_032382.5(COG8):c.603G>A (p.Val201=)	SNV Germline	Chr16:69335331	Conflicting classifications of pathogenicity	not specified COG8-congenital disorder of glycosylation	Criteria Provided Conflicting Classifications	CA8133899	rs_141435327	3 SubmittersRCV000436170 RCV000864888
NM_003859.3(DPM1):c.286T>C (p.Leu96=)	SNV Germline	Chr20:50948638	Conflicting classifications of pathogenicity	not specified Congenital disorder of glycosylation type 1E DPM1-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA9909163	rs_780244460	5 SubmittersRCV000417491 RCV001137589 RCV003942411 RCV003437192
NM_004870.4(MPDU1):c.618+14C>T	SNV Germline	Chr17:7587285	Conflicting classifications of pathogenicity	MPDU1-congenital disorder of glycosylation Condition: not provided	Criteria Provided Conflicting Classifications	CA8353010	rs_11078699	3 SubmittersRCV001126380 RCV001712275
NM_005660.3(SLC35A2):c.1A>G (p.Met1Val)	SNV Germline	ChrX:48911636	Pathogenic/Likely pathogenic	Condition: not provided SLC35A2-congenital disorder of glycosylation	Criteria Provided Multiple Submitters No Conflicts	CA16608936	rs_1042469070	2 SubmittersRCV000427117 RCV002286410
NM_005660.3(SLC35A2):c.274+5G>A	SNV Germline	ChrX:48909809	Conflicting classifications of pathogenicity	SLC35A2-congenital disorder of glycosylation Condition: not provided	Criteria Provided Conflicting Classifications	CA16616697	rs_1060503677	3 SubmittersRCV000466018 RCV000578787
NM_007357.3(COG2):c.1900T>G (p.Trp634Gly)	SNV Germline	Chr1:230690119	Pathogenic	Congenital disorder of glycosylation, type IIq	No Assertion Criteria Provided	CA345198944	rs_1085307117	1 SubmittersRCV000477726
NM_024592.5(SRD5A3):c.436G>A (p.Glu146Lys)	SNV Germline	Chr4:55364145	Conflicting classifications of pathogenicity	Condition: not provided SRD5A3-congenital disorder of glycosylation	Criteria Provided Conflicting Classifications	CA2925293	rs_772795484	2 SubmittersRCV000482809 RCV001851276
NM_012463.4(ATP6V0A2):c.388C>T (p.His130Tyr)	SNV Germline	Chr12:123724747	Conflicting classifications of pathogenicity	Condition: not provided ALG9 congenital disorder of glycosylation ATP6V0A2-related disorder	Criteria Provided Conflicting Classifications	CA6861590	rs_199801221	3 SubmittersRCV000483300 RCV002526950 RCV003915336
NM_005787.6(ALG3):c.752T>C (p.Leu251Pro)	SNV Germline	Chr3:184243971	Likely pathogenic	Condition: not provided ALG3-congenital disorder of glycosylation	Criteria Provided Single Submitter	CA355419249	rs_1085307980	2 SubmittersRCV000489956 RCV001543413
NM_005787.6(ALG3):c.395A>G (p.Tyr132Cys)	SNV Germline	Chr3:184245517	Likely pathogenic	Condition: not provided ALG3-congenital disorder of glycosylation	Criteria Provided Single Submitter	CA355421661	rs_1085307981	2 SubmittersRCV000489229 RCV001543412
NM_012463.4(ATP6V0A2):c.1069A>T (p.Met357Leu)	SNV Germline	Chr12:123743815	Conflicting classifications of pathogenicity	Condition: not provided ALG9 congenital disorder of glycosylation	Criteria Provided Conflicting Classifications	CA6861832	rs_146967928	2 SubmittersRCV000498620 RCV002056828
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_024740.2(ALG9):c.1251G>A (p.Ser417=)	SNV Germline	Chr11:111838322	Conflicting classifications of pathogenicity	Condition: not provided ALG9 congenital disorder of glycosylation ALG9-related disorder	Criteria Provided Conflicting Classifications	CA6274470	rs_782372397	3 SubmittersRCV000513620 RCV002527399 RCV003915420
NM_005660.3(SLC35A2):c.1039G>A (p.Ala347Thr)	SNV Germline	ChrX:48904870	Conflicting classifications of pathogenicity	Condition: not provided SLC35A2-congenital disorder of glycosylation	Criteria Provided Conflicting Classifications	CA10406070	rs_781948153	3 SubmittersRCV000513019 RCV001511787
NM_012463.4(ATP6V0A2):c.2384C>T (p.Ala795Val)	SNV Germline	Chr12:123756905	Conflicting classifications of pathogenicity	not specified ALG9 congenital disorder of glycosylation Condition: not provided	Criteria Provided Conflicting Classifications	CA6862234	rs_139509075	3 SubmittersRCV000518290 RCV000698250 RCV003151782
NM_005660.3(SLC35A2):c.245G>T (p.Cys82Phe)	SNV Somatic	ChrX:48909843	Likely pathogenic	SLC35A2-congenital disorder of glycosylation	Criteria Provided Single Submitter	CA412897640	rs_1557043622	1 SubmittersRCV000560194
NM_002633.3(PGM1):c.1014T>A (p.Ser338Arg)	SNV Germline	Chr1:63636374	Conflicting classifications of pathogenicity	PGM1-congenital disorder of glycosylation Condition: not provided	Criteria Provided Conflicting Classifications	CA340636216	rs_1553121290	2 SubmittersRCV000537665 RCV003324765
NM_033087.4(ALG2):c.348+6G>A	SNV Germline	Chr9:99221541	Conflicting classifications of pathogenicity	ALG2-congenital disorder of glycosylation Congenital myasthenic syndrome 14 not specified ALG2-related disorder	Criteria Provided Conflicting Classifications	CA5156417	rs_368075764	3 SubmittersRCV000529080 RCV003317265 RCV003942791
NM_032382.5(COG8):c.525G>A (p.Leu175=)	SNV Germline	Chr16:69336565	Conflicting classifications of pathogenicity	Condition: not provided COG8-congenital disorder of glycosylation	Criteria Provided Conflicting Classifications	CA8133938	rs_187905134	3 SubmittersRCV000841534 RCV001119763
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_003859.3(DPM1):c.409G>T (p.Glu137Ter)	SNV Germline	Chr20:50942116	Pathogenic	Congenital disorder of glycosylation type 1E	Criteria Provided Single Submitter	CA408989429	rs_753780084	1 SubmittersRCV000541426
NM_205861.3(DHDDS):c.192G>A (p.Trp64Ter)	SNV Germline	Chr1:26442742	Pathogenic	Congenital disorder of glycosylation, type Ibb	No Assertion Criteria Provided	CA339140083	rs_1553121545	1 SubmittersRCV000578125
NM_205861.3(DHDDS):c.441-24A>G	SNV Germline	Chr1:26447535	Likely pathogenic	Congenital disorder of glycosylation, type Ibb Retinitis pigmentosa 59	Criteria Provided Multiple Submitters No Conflicts	CA705345	rs_764831063	3 SubmittersRCV000578121 RCV001860002
NM_024079.5(ALG8):c.478+1G>A	SNV Germline	Chr11:78121064	Conflicting classifications of pathogenicity	Condition: not provided ALG8 congenital disorder of glycosylation	Criteria Provided Conflicting Classifications	CA6203472	rs_139832787	7 SubmittersRCV000579317 RCV000660438
NM_024079.5(ALG8):c.535C>T (p.Arg179Ter)	SNV Germline	Chr11:78119193	Pathogenic/Likely pathogenic	Polycystic liver disease 3 with or without kidney cysts Polycystic liver disease 3 with or without kidney cysts ALG8 congenital disorder of glycosylation ALG8-related disorder Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA6203446	rs_762811727	6 SubmittersRCV000584773 RCV002506394 RCV003596048 RCV003480705
NM_004870.4(MPDU1):c.310G>A (p.Gly104Ser)	SNV Germline	Chr17:7586699	Likely pathogenic	MPDU1-congenital disorder of glycosylation	Criteria Provided Single Submitter	CA397838747	rs_1555570093	1 SubmittersRCV000590863
NM_004870.4(MPDU1):c.377A>C (p.Gln126Pro)	SNV Germline	Chr17:7586766	Likely pathogenic	MPDU1-congenital disorder of glycosylation	Criteria Provided Single Submitter	CA397839094	rs_1555570110	1 SubmittersRCV000590854
NM_153603.4(COG7):c.2208C>T (p.Ile736=)	SNV Germline	Chr16:23389025	Conflicting classifications of pathogenicity	Condition: not provided COG7 congenital disorder of glycosylation	Criteria Provided Conflicting Classifications	CA7960737	rs_762124832	2 SubmittersRCV000591503 RCV002532399
NM_012463.4(ATP6V0A2):c.264G>T (p.Ala88=)	SNV Germline	Chr12:123722418	Conflicting classifications of pathogenicity	ALG9 congenital disorder of glycosylation Cutis laxa with osteodystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA6861538	rs_139785866	5 SubmittersRCV001085019 RCV001113217 RCV000726817
NM_002633.3(PGM1):c.649C>T (p.Arg217Ter)	SNV Germline	Chr1:63631749	Pathogenic	PGM1-congenital disorder of glycosylation Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA889590	rs_770066171	2 SubmittersRCV000596556 RCV000727046
NM_005787.6(ALG3):c.444+1G>T	SNV Germline	Chr3:184245467	Likely pathogenic	Condition: not provided ALG3-congenital disorder of glycosylation	Criteria Provided Multiple Submitters No Conflicts	CA2729545	rs_748878963	2 SubmittersRCV000591836 RCV003497858
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_002633.3(PGM1):c.741G>A (p.Ser247=)	SNV Germline	Chr1:63634887	Conflicting classifications of pathogenicity	not specified PGM1-congenital disorder of glycosylation PGM1-related disorder	Criteria Provided Conflicting Classifications	CA889623	rs_142222746	5 SubmittersRCV000604207 RCV001101467 RCV004530748
NM_153603.4(COG7):c.1851C>T (p.Pro617=)	SNV Germline	Chr16:23398082	Conflicting classifications of pathogenicity	not specified COG7 congenital disorder of glycosylation COG7-related disorder	Criteria Provided Conflicting Classifications	CA7960856	rs_748835759	4 SubmittersRCV000612118 RCV001121136 RCV003980177
NM_032382.5(COG8):c.1467C>T (p.Ser489=)	SNV Germline	Chr16:69332829	Conflicting classifications of pathogenicity	not specified COG8-congenital disorder of glycosylation COG8-related disorder	Criteria Provided Conflicting Classifications	CA8133702	rs_138741747	4 SubmittersRCV000602985 RCV001116768 RCV003945475
NM_153603.4(COG7):c.319-12C>T	SNV Germline	Chr16:23445176	Conflicting classifications of pathogenicity	not specified COG7 congenital disorder of glycosylation	Criteria Provided Conflicting Classifications	CA7961335	rs_201965984	3 SubmittersRCV000614021 RCV001121245
NM_005787.6(ALG3):c.991C>T (p.Gln331Ter)	SNV Germline	Chr3:184243572	Pathogenic	Inborn genetic diseases ALG3-congenital disorder of glycosylation	Criteria Provided Single Submitter	CA355418217	rs_1553827968	2 SubmittersRCV000624784 RCV001543407
NM_001382.4(DPAGT1):c.739C>T (p.Arg247Trp)	SNV Germline	Chr11:119098033	Conflicting classifications of pathogenicity	Inborn genetic diseases Congenital disorder of glycosylation Congenital myasthenic syndrome 13 DPAGT1-congenital disorder of glycosylation DPAGT1-congenital disorder of glycosylation Congenital myasthenic syndrome 13	Criteria Provided Conflicting Classifications	CA6314535	rs_772988029	5 SubmittersRCV000622674 RCV001291167 RCV001340496 RCV001797765 RCV001809704
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_005216.5(DDOST):c.645G>C (p.Gln215His)	SNV Unknown	Chr1:20654614	Likely pathogenic	Congenital disorder of glycosylation type Ir	Criteria Provided Single Submitter	CA338851272	rs_867045420	1 SubmittersRCV000626165
NM_001382.4(DPAGT1):c.330C>T (p.Phe110=)	SNV Germline	Chr11:119100796	Conflicting classifications of pathogenicity	Congenital myasthenic syndrome 13 DPAGT1-congenital disorder of glycosylation DPAGT1-congenital disorder of glycosylation DPAGT1-related disorder	Criteria Provided Conflicting Classifications	CA6314657	rs_199994118	3 SubmittersRCV000650500 RCV001108109 RCV003965388
NM_001371533.1(FUT8):c.715C>T (p.Arg239Ter)	SNV Germline	Chr14:65669360	Pathogenic	Congenital disorder of glycosylation with defective fucosylation 1 Condition: not provided Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts		rs_1460811017	3 SubmittersRCV000656448 RCV000760559 RCV001266091
NM_001371533.1(FUT8):c.1009C>G (p.Arg337Gly)	SNV Germline	Chr14:65721948	Pathogenic	Congenital disorder of glycosylation with defective fucosylation 1	No Assertion Criteria Provided		rs_1297536872	1 SubmittersRCV000656449
NM_001371533.1(FUT8):c.1259+5G>T	SNV Germline	Chr14:65724328	Pathogenic	Congenital disorder of glycosylation with defective fucosylation 1	No Assertion Criteria Provided		rs_1555388034	1 SubmittersRCV000656450
NM_001371533.1(FUT8):c.943C>T (p.Arg315Ter)	SNV Germline	Chr14:65721882	Pathogenic	Congenital disorder of glycosylation with defective fucosylation 1	No Assertion Criteria Provided		rs_1334593208	1 SubmittersRCV000656451
NM_001382.4(DPAGT1):c.250A>C (p.Lys84Gln)	SNV Germline	Chr11:119101050	Conflicting classifications of pathogenicity	DPAGT1-congenital disorder of glycosylation Congenital myasthenic syndrome 13 Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_112355069	3 SubmittersRCV000660514 RCV002530576
NM_005787.6(ALG3):c.1024C>A (p.Leu342Ile)	SNV Germline	Chr3:184242943	Conflicting classifications of pathogenicity	ALG3-congenital disorder of glycosylation	Criteria Provided Conflicting Classifications		rs_568371168	2 SubmittersRCV000662048
NM_153603.4(COG7):c.1476-1G>T	SNV Germline	Chr16:23406263	Pathogenic	COG7 congenital disorder of glycosylation	Criteria Provided Single Submitter		rs_1555493029	1 SubmittersRCV000662352
NM_153603.4(COG7):c.2T>C (p.Met1Thr)	SNV Germline	Chr16:23452993	Likely pathogenic	COG7 congenital disorder of glycosylation	Criteria Provided Single Submitter		rs_1555497604	1 SubmittersRCV000662353
NM_002633.3(PGM1):c.572C>T (p.Ser191Leu)	SNV Germline	Chr1:63631672	Conflicting classifications of pathogenicity	Condition: not provided PGM1-congenital disorder of glycosylation Inborn genetic diseases PGM1-related disorder	Criteria Provided Conflicting Classifications		rs_147971989	6 SubmittersRCV000675301 RCV001371108 RCV002531370 RCV004544935
NM_007357.3(COG2):c.2026G>A (p.Ala676Thr)	SNV Germline	Chr1:230691475	Conflicting classifications of pathogenicity	Congenital disorder of glycosylation, type IIq not specified	Criteria Provided Conflicting Classifications		rs_149248784	2 SubmittersRCV000703358 RCV004026627
NM_138459.5(NUS1):c.506C>G (p.Pro169Arg)	SNV Germline	Chr6:117693132	Conflicting classifications of pathogenicity	Congenital disorder of glycosylation, type IAA Intellectual disability, autosomal dominant 55, with seizures Condition: not provided NUS1-related disorder	Criteria Provided Conflicting Classifications		rs_150646335	4 SubmittersRCV000689957 RCV001335392 RCV003334020 RCV003938040
NM_001382.4(DPAGT1):c.361C>T (p.Arg121Cys)	SNV Germline	Chr11:119100765	Conflicting classifications of pathogenicity	DPAGT1-congenital disorder of glycosylation Congenital myasthenic syndrome 13 Congenital myasthenic syndrome 13	Criteria Provided Conflicting Classifications		rs_746187785	2 SubmittersRCV000694309 RCV001729687
NM_019109.5(ALG1):c.863-2A>G	SNV Germline	Chr16:5079062	Likely pathogenic	ALG1-congenital disorder of glycosylation	Criteria Provided Single Submitter		rs_768733117	1 SubmittersRCV000704546
NM_001382.4(DPAGT1):c.360G>C (p.Leu120=)	SNV Germline	Chr11:119100766	Pathogenic	DPAGT1-congenital disorder of glycosylation Congenital myasthenic syndrome 13	Criteria Provided Single Submitter		rs_1555207826	1 SubmittersRCV000685069
NM_002951.5(RPN2):c.188C>T (p.Ala63Val)	SNV Germline	Chr20:37184354	Conflicting classifications of pathogenicity	Congenital disorder of glycosylation not specified	Criteria Provided Conflicting Classifications		rs_144538512	2 SubmittersRCV000694248 RCV004025187
NM_005660.3(SLC35A2):c.523C>T (p.Leu175Phe)	SNV Germline	ChrX:48905386	Conflicting classifications of pathogenicity	SLC35A2-congenital disorder of glycosylation	Criteria Provided Conflicting Classifications		rs_1283637638	2 SubmittersRCV000691195
NM_012463.4(ATP6V0A2):c.773A>G (p.Glu258Gly)	SNV Germline	Chr12:123735572	Conflicting classifications of pathogenicity	Condition: not provided ALG9 congenital disorder of glycosylation ATP6V0A2-related disorder	Criteria Provided Conflicting Classifications		rs_141467923	4 SubmittersRCV000710656 RCV001078886 RCV003965460
NM_012463.4(ATP6V0A2):c.1014G>A (p.Leu338=)	SNV Germline	Chr12:123737247	Conflicting classifications of pathogenicity	Condition: not provided ALG9 congenital disorder of glycosylation	Criteria Provided Conflicting Classifications		rs_917452697	2 SubmittersRCV000710655 RCV003609167
NM_005660.3(SLC35A2):c.233A>G (p.Lys78Arg)	SNV Germline	ChrX:48909855	Pathogenic	SLC35A2-congenital disorder of glycosylation	No Assertion Criteria Provided		rs_1569511572	1 SubmittersRCV000766228
NM_005660.3(SLC35A2):c.169G>A (p.Ala57Thr)	SNV Germline	ChrX:48909919	Conflicting classifications of pathogenicity	SLC35A2-congenital disorder of glycosylation Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_151120284	2 SubmittersRCV001056605 RCV002318060
NM_012463.4(ATP6V0A2):c.840C>T (p.Thr280=)	SNV Germline	Chr12:123737073	Conflicting classifications of pathogenicity	Condition: not provided ALG9 congenital disorder of glycosylation	Criteria Provided Conflicting Classifications		rs_139680786	3 SubmittersRCV000728258 RCV001078478
NM_012463.4(ATP6V0A2):c.954C>T (p.Asp318=)	SNV Germline	Chr12:123737187	Conflicting classifications of pathogenicity	Condition: not provided Cutis laxa with osteodystrophy ALG9 congenital disorder of glycosylation	Criteria Provided Conflicting Classifications		rs_75746974	4 SubmittersRCV000728672 RCV001111307 RCV001412196
NM_001099922.3(ALG13):c.50T>A (p.Ile17Asn)	SNV Germline	ChrX:111681268	Likely pathogenic	Infantile spasms Global developmental delay Osteopenia Microcephaly Cerebral visual impairment Congenital disorder of glycosylation See cases	Criteria Provided Single Submitter		rs_1569508922	2 SubmittersRCV000735326 RCV001543373 RCV003156121
NM_005787.6(ALG3):c.1263G>A (p.Trp421Ter)	SNV Germline	Chr3:184242568	Pathogenic	ALG3-congenital disorder of glycosylation	No Assertion Criteria Provided		rs_1560161567	1 SubmittersRCV000754609
NM_005787.6(ALG3):c.1037A>G (p.Asn346Ser)	SNV Germline	Chr3:184242930	Pathogenic	ALG3-congenital disorder of glycosylation	Criteria Provided Single Submitter		rs_1560162116	1 SubmittersRCV000754640
NM_005787.6(ALG3):c.296+4A>G	SNV Germline	Chr3:184245709	Likely pathogenic	ALG3-congenital disorder of glycosylation	Criteria Provided Single Submitter		rs_1560164682	1 SubmittersRCV000754641
NM_002408.4(MGAT2):c.1120C>T (p.His374Tyr)	SNV Germline	Chr14:49622388	Pathogenic	MGAT2-congenital disorder of glycosylation	No Assertion Criteria Provided		rs_776531113	1 SubmittersRCV000754821
NM_002408.4(MGAT2):c.91C>T (p.Gln31Ter)	SNV Germline	Chr14:49621359	Pathogenic	MGAT2-congenital disorder of glycosylation	No Assertion Criteria Provided		rs_1310787426	1 SubmittersRCV000754823
NM_002408.4(MGAT2):c.799G>C (p.Asp267His)	SNV Germline	Chr14:49622067	Pathogenic	MGAT2-congenital disorder of glycosylation	No Assertion Criteria Provided		rs_1566505013	1 SubmittersRCV000754824
NM_005787.6(ALG3):c.286G>A (p.Gly96Arg)	SNV Germline	Chr3:184245723	Likely pathogenic	ALG3-congenital disorder of glycosylation	Criteria Provided Single Submitter		rs_367679074	2 SubmittersRCV000754835
NM_005787.6(ALG3):c.350G>C (p.Arg117Pro)	SNV Germline	Chr3:184245562	Pathogenic	ALG3-congenital disorder of glycosylation	Criteria Provided Single Submitter		rs_370434427	2 SubmittersRCV000754836
NM_145059.3(FCSK):c.2047C>T (p.Arg683Cys)	SNV Germline	Chr16:70474586	Conflicting classifications of pathogenicity	Congenital disorder of glycosylation with defective fucosylation 2 Condition: not provided	Criteria Provided Conflicting Classifications		rs_755169246	4 SubmittersRCV000757949 RCV002234120
NM_145059.3(FCSK):c.2980A>C (p.Lys994Gln)	SNV Germline	Chr16:70479230	Pathogenic	Congenital disorder of glycosylation with defective fucosylation 2	No Assertion Criteria Provided		rs_199515460	1 SubmittersRCV000757950
NM_019109.5(ALG1):c.652C>T (p.Pro218Ser)	SNV Germline	Chr16:5077929	Conflicting classifications of pathogenicity	ALG1-congenital disorder of glycosylation	Criteria Provided Conflicting Classifications		rs_528261173	2 SubmittersRCV000758003
NM_001367916.1(MAGT1):c.972A>C (p.Lys324Asn)	SNV Germline	ChrX:77830825	Pathogenic	Congenital disorder of glycosylation Congenital disorder of glycosylation, type ICC	Criteria Provided Single Submitter		rs_373260156	2 SubmittersRCV000767844 RCV000850166
NM_001367916.1(MAGT1):c.895C>T (p.Arg299Ter)	SNV Germline	ChrX:77841252	Pathogenic	Congenital disorder of glycosylation Congenital disorder of glycosylation, type ICC X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia	Criteria Provided Multiple Submitters No Conflicts		rs_1569547876	3 SubmittersRCV000767845 RCV000850167 RCV001869056
NM_004870.4(MPDU1):c.619-2A>G	SNV Germline	Chr17:7587424	Conflicting classifications of pathogenicity	MPDU1-congenital disorder of glycosylation Condition: not provided	Criteria Provided Conflicting Classifications		rs_368123972	2 SubmittersRCV000778520 RCV003320741
NM_005787.6(ALG3):c.221A>G (p.Tyr74Cys)	SNV Germline	Chr3:184245788	Likely pathogenic	ALG3-congenital disorder of glycosylation	Criteria Provided Single Submitter		rs_1028791709	1 SubmittersRCV000785866
NM_005660.3(SLC35A2):c.485G>A (p.Arg162His)	SNV Germline	ChrX:48905424	Conflicting classifications of pathogenicity	SLC35A2-congenital disorder of glycosylation	Criteria Provided Conflicting Classifications		rs_782305321	2 SubmittersRCV000791153
NM_138459.5(NUS1):c.640A>G (p.Lys214Glu)	SNV Germline	Chr6:117694129	Conflicting classifications of pathogenicity	Congenital disorder of glycosylation, type IAA Condition: not provided	Criteria Provided Conflicting Classifications		rs_146171115	2 SubmittersRCV000792334 RCV003311889
NM_001164277.2(SLC37A4):c.1286A>C (p.Glu429Ala)	SNV Germline	Chr11:119024914	Conflicting classifications of pathogenicity	Glucose-6-phosphate transport defect not specified Condition: not provided Phosphate transport defect Glucose-6-phosphate transport defect Congenital disorder of glycosylation, type IIw	Criteria Provided Conflicting Classifications		rs_149974794	5 SubmittersRCV000807579 RCV002271588 RCV002281135 RCV002507401
NM_001382.4(DPAGT1):c.398C>G (p.Ser133Ter)	SNV Germline	Chr11:119100728	Pathogenic	DPAGT1-congenital disorder of glycosylation Congenital myasthenic syndrome 13	Criteria Provided Single Submitter		rs_1315559074	1 SubmittersRCV000792938
NM_019109.5(ALG1):c.766G>A (p.Glu256Lys)	SNV Germline	Chr16:5078782	Conflicting classifications of pathogenicity	ALG1-congenital disorder of glycosylation ALG1-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_147412842	3 SubmittersRCV000792220 RCV003908091 RCV004027412
NM_003859.3(DPM1):c.1A>C (p.Met1Leu)	SNV Germline	Chr20:50958523	Conflicting classifications of pathogenicity	Congenital disorder of glycosylation type 1E	Criteria Provided Conflicting Classifications		rs_139624629	3 SubmittersRCV000821507
NM_005660.3(SLC35A2):c.2T>A (p.Met1Lys)	SNV Germline	ChrX:48911635	Likely pathogenic	SLC35A2-congenital disorder of glycosylation	Criteria Provided Single Submitter		rs_1602347908	1 SubmittersRCV000823050
NM_153603.4(COG7):c.435+2T>C	SNV Germline	Chr16:23445046	Conflicting classifications of pathogenicity	COG7 congenital disorder of glycosylation Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_201446992	3 SubmittersRCV000813623 RCV002538169
NM_032382.5(COG8):c.585+1G>T	SNV Germline	Chr16:69336504	Likely pathogenic	COG8-congenital disorder of glycosylation	Criteria Provided Single Submitter		rs_1597225261	1 SubmittersRCV000816521
NM_001382.4(DPAGT1):c.643+2T>C	SNV Germline	Chr11:119100260	Conflicting classifications of pathogenicity	not specified Congenital myasthenic syndrome 13 DPAGT1-congenital disorder of glycosylation	Criteria Provided Conflicting Classifications		rs_774754436	2 SubmittersRCV000825916 RCV002538233
NM_012463.4(ATP6V0A2):c.447T>C (p.Tyr149=)	SNV Germline	Chr12:123726211	Conflicting classifications of pathogenicity	Condition: not provided Cutis laxa with osteodystrophy ALG9 congenital disorder of glycosylation	Criteria Provided Conflicting Classifications		rs_140835376	3 SubmittersRCV000836118 RCV001114576 RCV002068554
NM_005660.3(SLC35A2):c.691G>A (p.Val231Met)	SNV Germline	ChrX:48905218	Conflicting classifications of pathogenicity	Condition: not provided SLC35A2-congenital disorder of glycosylation	Criteria Provided Conflicting Classifications		rs_939923485	2 SubmittersRCV000838714 RCV001858432
NM_153603.4(COG7):c.1476-3C>T	SNV Germline	Chr16:23406265	Conflicting classifications of pathogenicity	Condition: not provided COG7 congenital disorder of glycosylation	Criteria Provided Conflicting Classifications		rs_551490261	2 SubmittersRCV000827179 RCV001858419
NM_004870.4(MPDU1):c.19G>T (p.Gly7Ter)	SNV Germline	Chr17:7583881	Likely pathogenic	MPDU1-congenital disorder of glycosylation Inborn genetic diseases	Criteria Provided Single Submitter		rs_555710402	2 SubmittersRCV000845024 RCV002538341
NM_024592.5(SRD5A3):c.921G>C (p.Pro307=)	SNV Unknown	Chr4:55370055	Likely pathogenic	Congenital disorder of glycosylation	No Assertion Criteria Provided		rs_763516132	1 SubmittersRCV000851213
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.342G>C (p.Leu114Phe)	SNV Unknown	Chr16:5073208	Likely pathogenic	Congenital disorder of glycosylation	No Assertion Criteria Provided		rs_1596252196	1 SubmittersRCV000851231
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.626T>G (p.Ile209Ser)	SNV Unknown	Chr16:5077531	Likely pathogenic	Congenital disorder of glycosylation	No Assertion Criteria Provided		rs_1596256204	1 SubmittersRCV000851236
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.1088G>C (p.Gly363Ala)	SNV Unknown	Chr16:5082574	Likely pathogenic	Congenital disorder of glycosylation	No Assertion Criteria Provided		rs_1596261161	1 SubmittersRCV000851240
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.1101C>G (p.His367Gln)	SNV Unknown	Chr16:5082587	Likely pathogenic	Congenital disorder of glycosylation	No Assertion Criteria Provided		rs_1428414601	1 SubmittersRCV000851224
NM_019109.5(ALG1):c.1145T>A (p.Met382Lys)	SNV Unknown	Chr16:5082631	Likely pathogenic	Congenital disorder of glycosylation	No Assertion Criteria Provided		rs_1596261268	1 SubmittersRCV000851251
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	4 SubmittersRCV000851223 RCV001858477 RCV002538358
NM_019109.5(ALG1):c.209-1G>C	SNV Unknown	Chr16:5072950	Likely pathogenic	Congenital disorder of glycosylation	No Assertion Criteria Provided		rs_1270276368	1 SubmittersRCV000851239
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_005660.3(SLC35A2):c.828C>T (p.Leu276=)	SNV Germline	ChrX:48905081	Conflicting classifications of pathogenicity	Condition: not provided SLC35A2-congenital disorder of glycosylation	Criteria Provided Conflicting Classifications		rs_782113085	2 SubmittersRCV000861614 RCV001079103
NM_024079.5(ALG8):c.869A>G (p.Asn290Ser)	SNV Germline	Chr11:78112679	Conflicting classifications of pathogenicity	ALG8 congenital disorder of glycosylation ALG8-related disorder Condition: not provided	Criteria Provided Conflicting Classifications		rs_61995923	4 SubmittersRCV003605697 RCV004538293 RCV000870666
NM_024079.5(ALG8):c.36T>C (p.Asn12=)	SNV Germline	Chr11:78139553	Conflicting classifications of pathogenicity	Condition: not provided ALG8 congenital disorder of glycosylation	Criteria Provided Conflicting Classifications		rs_1179361051	2 SubmittersRCV000870960 RCV001470527
NM_153603.4(COG7):c.1113C>T (p.Leu371=)	SNV Germline	Chr16:23418724	Conflicting classifications of pathogenicity	COG7 congenital disorder of glycosylation	Criteria Provided Conflicting Classifications		rs_114661874	2 SubmittersRCV000864711
NM_024592.5(SRD5A3):c.108G>T (p.Pro36=)	SNV Germline	Chr4:55346444	Conflicting classifications of pathogenicity	SRD5A3-congenital disorder of glycosylation	Criteria Provided Conflicting Classifications		rs_200253126	2 SubmittersRCV000872539
NM_024740.2(ALG9):c.1792T>C (p.Tyr598His)	SNV Germline	Chr11:111786462	Conflicting classifications of pathogenicity	Condition: not provided ALG9 congenital disorder of glycosylation ALG9-related disorder	Criteria Provided Conflicting Classifications		rs_201194863	3 SubmittersRCV000873972 RCV003103876 RCV003908305
NM_024740.2(ALG9):c.1750C>T (p.Arg584Trp)	SNV Germline	Chr11:111786504	Conflicting classifications of pathogenicity	ALG9 congenital disorder of glycosylation Inborn genetic diseases Condition: not provided ALG9-related disorder	Criteria Provided Conflicting Classifications		rs_199995104	4 SubmittersRCV000873271 RCV002539166 RCV003153878 RCV003955704
NM_024740.2(ALG9):c.815A>G (p.Tyr272Cys)	SNV Germline	Chr11:111853460	Conflicting classifications of pathogenicity	ALG9 congenital disorder of glycosylation not specified Condition: not provided ALG9-related disorder	Criteria Provided Conflicting Classifications		rs_145762575	4 SubmittersRCV000874953 RCV003151168 RCV003480888 RCV003948222
NM_002408.4(MGAT2):c.229C>T (p.Pro77Ser)	SNV Germline	Chr14:49621497	Conflicting classifications of pathogenicity	MGAT2-congenital disorder of glycosylation MGAT2-related disorder	Criteria Provided Conflicting Classifications		rs_145684106	3 SubmittersRCV000872131 RCV003930393
NM_032382.5(COG8):c.386T>C (p.Val129Ala)	SNV Germline	Chr16:69336704	Conflicting classifications of pathogenicity	Condition: not provided COG8-congenital disorder of glycosylation COG8-related disorder	Criteria Provided Conflicting Classifications		rs_146248068	3 SubmittersRCV000872430 RCV001463910 RCV003948186
NM_153603.4(COG7):c.1972G>A (p.Ala658Thr)	SNV Germline	Chr16:23393263	Conflicting classifications of pathogenicity	COG7 congenital disorder of glycosylation COG7-related disorder	Criteria Provided Conflicting Classifications		rs_115073082	3 SubmittersRCV001119148 RCV003970743
NM_024079.5(ALG8):c.1506C>T (p.Gly502=)	SNV Germline	Chr11:78101039	Conflicting classifications of pathogenicity	ALG8 congenital disorder of glycosylation ALG8-related disorder	Criteria Provided Conflicting Classifications		rs_148820351	3 SubmittersRCV000887812 RCV004530950
NM_005787.6(ALG3):c.606-10C>T	SNV Germline	Chr3:184244731	Conflicting classifications of pathogenicity	ALG3-congenital disorder of glycosylation	Criteria Provided Conflicting Classifications		rs_372141050	2 SubmittersRCV001149025
NM_001382.4(DPAGT1):c.351A>G (p.Val117=)	SNV Germline	Chr11:119100775	Conflicting classifications of pathogenicity	DPAGT1-congenital disorder of glycosylation Congenital myasthenic syndrome 13 DPAGT1-congenital disorder of glycosylation	Criteria Provided Conflicting Classifications		rs_146610900	2 SubmittersRCV000910799 RCV001108108
NM_024079.5(ALG8):c.154A>G (p.Ile52Val)	SNV Germline	Chr11:78127378	Conflicting classifications of pathogenicity	ALG8 congenital disorder of glycosylation Polycystic liver disease 3 with or without kidney cysts	Criteria Provided Conflicting Classifications		rs_138293432	3 SubmittersRCV000903204 RCV003332270
NM_153603.4(COG7):c.904G>A (p.Val302Met)	SNV Germline	Chr16:23424854	Conflicting classifications of pathogenicity	COG7 congenital disorder of glycosylation	Criteria Provided Conflicting Classifications		rs_116314856	2 SubmittersRCV000898552
NM_002633.3(PGM1):c.442T>G (p.Phe148Val)	SNV Germline	Chr1:63629974	Conflicting classifications of pathogenicity	PGM1-congenital disorder of glycosylation	Criteria Provided Conflicting Classifications		rs_755467080	2 SubmittersRCV000916677
NM_024079.5(ALG8):c.588A>G (p.Leu196=)	SNV Germline	Chr11:78114351	Conflicting classifications of pathogenicity	Condition: not provided ALG8 congenital disorder of glycosylation	Criteria Provided Conflicting Classifications		rs_562915665	2 SubmittersRCV000915127 RCV001110704
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	Criteria Provided Conflicting Classifications		rs_145317306	3 SubmittersRCV000981645 RCV001576674 RCV002550564
NM_002633.3(PGM1):c.1543C>T (p.Arg515Trp)	SNV Germline	Chr1:63654410	Conflicting classifications of pathogenicity	PGM1-congenital disorder of glycosylation	Criteria Provided Conflicting Classifications		rs_775651976	4 SubmittersRCV000985040
NM_138459.5(NUS1):c.692-1G>A	SNV Unknown	Chr6:117703604	Likely pathogenic	Congenital disorder of glycosylation, type IAA	Criteria Provided Single Submitter		rs_1582477100	1 SubmittersRCV000987765
NM_001382.4(DPAGT1):c.1036C>G (p.His346Asp)	SNV Unknown	Chr11:119097267	Likely pathogenic	DPAGT1-congenital disorder of glycosylation	Criteria Provided Single Submitter		rs_1592225374	1 SubmittersRCV000988758
NM_001382.4(DPAGT1):c.574G>C (p.Gly192Arg)	SNV Unknown	Chr11:119100331	Likely pathogenic	DPAGT1-congenital disorder of glycosylation	Criteria Provided Single Submitter		rs_768464558	1 SubmittersRCV000988759
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_005660.3(SLC35A2):c.128T>C (p.Leu43Pro)	SNV Unknown	ChrX:48909960	Likely pathogenic	SLC35A2-congenital disorder of glycosylation	Criteria Provided Single Submitter		rs_1602344901	1 SubmittersRCV000990816
NM_024592.5(SRD5A3):c.484C>T (p.Gln162Ter)	SNV Germline	Chr4:55364193	Likely pathogenic	SRD5A3-congenital disorder of glycosylation Kahrizi syndrome	Criteria Provided Single Submitter		rs_1578209906	1 SubmittersRCV000991422
NM_005660.3(SLC35A2):c.966A>G (p.Pro322=)	SNV Germline	ChrX:48904943	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases SLC35A2-congenital disorder of glycosylation	Criteria Provided Conflicting Classifications		rs_373788556	3 SubmittersRCV000999414 RCV002372724 RCV002068744
NM_005660.3(SLC35A2):c.818G>C (p.Gly273Ala)	SNV Germline	ChrX:48905091	Conflicting classifications of pathogenicity	Condition: not provided SLC35A2-congenital disorder of glycosylation	Criteria Provided Conflicting Classifications		rs_1557042798	3 SubmittersRCV000999415 RCV001049784
NM_005660.3(SLC35A2):c.578G>A (p.Arg193Gln)	SNV Germline	ChrX:48905331	Conflicting classifications of pathogenicity	Condition: not provided SLC35A2-congenital disorder of glycosylation	Criteria Provided Conflicting Classifications		rs_1602338782	2 SubmittersRCV000999416 RCV001037501
NM_005660.3(SLC35A2):c.252G>A (p.Leu84=)	SNV Germline	ChrX:48909836	Conflicting classifications of pathogenicity	SLC35A2-congenital disorder of glycosylation Condition: not provided	Criteria Provided Conflicting Classifications		rs_1557043621	2 SubmittersRCV001488643 RCV000999418
NM_005660.3(SLC35A2):c.92-7C>G	SNV Germline	ChrX:48910003	Conflicting classifications of pathogenicity	SLC35A2-congenital disorder of glycosylation Condition: not provided	Criteria Provided Conflicting Classifications		rs_1557043678	3 SubmittersRCV001450426 RCV000999419
NM_001382.4(DPAGT1):c.698T>C (p.Phe233Ser)	SNV Germline	Chr11:119098433	Likely pathogenic	DPAGT1-congenital disorder of glycosylation	Criteria Provided Single Submitter		rs_1450090350	1 SubmittersRCV000995756
NM_005660.3(SLC35A2):c.515T>C (p.Leu172Pro)	SNV Unknown	ChrX:48905394	Likely pathogenic	SLC35A2-congenital disorder of glycosylation	Criteria Provided Single Submitter			1 SubmittersRCV001004665
NM_033087.4(ALG2):c.20G>A (p.Arg7Gln)	SNV Germline	Chr9:99221875	Conflicting classifications of pathogenicity	Congenital myasthenic syndrome 14 ALG2-congenital disorder of glycosylation Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_776974668	2 SubmittersRCV001062434 RCV003243455
NM_001382.4(DPAGT1):c.574G>A (p.Gly192Ser)	SNV Germline	Chr11:119100331	Conflicting classifications of pathogenicity	Congenital myasthenic syndrome 13 DPAGT1-congenital disorder of glycosylation DPAGT1-congenital disorder of glycosylation Condition: not provided	Criteria Provided Conflicting Classifications		rs_768464558	3 SubmittersRCV001055724 RCV002472314 RCV003145308
NM_001382.4(DPAGT1):c.88C>T (p.Pro30Ser)	SNV Germline	Chr11:119101568	Conflicting classifications of pathogenicity	Condition: not provided DPAGT1-congenital disorder of glycosylation Congenital myasthenic syndrome 13	Criteria Provided Conflicting Classifications		rs_1393162163	2 SubmittersRCV001172050 RCV001046862
NM_024079.5(ALG8):c.368+2T>G	SNV Germline	Chr11:78124019	Likely pathogenic	ALG8 congenital disorder of glycosylation Polycystic liver disease 3 with or without kidney cysts ALG8 congenital disorder of glycosylation	Criteria Provided Multiple Submitters No Conflicts		rs_756894409	2 SubmittersRCV001070562 RCV002489709
NM_005765.3(ATP6AP2):c.293T>C (p.Leu98Ser)	SNV Germline	ChrX:40591358	Pathogenic	Congenital disorder of glycosylation, type IIr	No Assertion Criteria Provided		rs_1926621737	1 SubmittersRCV001078440
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_005660.3(SLC35A2):c.844G>A (p.Gly282Arg)	SNV Germline	ChrX:48905065	Pathogenic/Likely pathogenic	Condition: not provided SLC35A2-congenital disorder of glycosylation	Criteria Provided Multiple Submitters No Conflicts		rs_2063478987	2 SubmittersRCV001091019 RCV002557952
NM_004481.5(GALNT2):c.311T>C (p.Phe104Ser)	SNV Germline	Chr1:230203227	Likely pathogenic	Congenital disorder of glycosylation, type iit	Criteria Provided Single Submitter		rs_1663960324	2 SubmittersRCV001095796
NM_004481.5(GALNT2):c.865C>T (p.Gln289Ter)	SNV Germline	Chr1:230249231	Pathogenic	Congenital disorder of glycosylation, type iit	Criteria Provided Single Submitter		rs_1665467473	3 SubmittersRCV001095797
NM_004481.5(GALNT2):c.598C>T (p.Arg200Ter)	SNV Germline	Chr1:230236716	Pathogenic	Congenital disorder of glycosylation, type iit Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_1431963909	3 SubmittersRCV001095798 RCV003442203
NM_004481.5(GALNT2):c.629G>C (p.Arg210Pro)	SNV Germline	Chr1:230243327	Likely pathogenic	Congenital disorder of glycosylation, type iit	Criteria Provided Single Submitter		rs_376870425	2 SubmittersRCV001095800
NM_002633.3(PGM1):c.327T>C (p.Ile109=)	SNV Germline	Chr1:63629505	Conflicting classifications of pathogenicity	PGM1-congenital disorder of glycosylation	Criteria Provided Conflicting Classifications		rs_770271653	2 SubmittersRCV001099465
NM_002633.3(PGM1):c.1065C>A (p.Thr355=)	SNV Germline	Chr1:63638721	Conflicting classifications of pathogenicity	PGM1-congenital disorder of glycosylation	Criteria Provided Conflicting Classifications		rs_773677629	2 SubmittersRCV001096005
NM_002633.3(PGM1):c.1029-8C>G	SNV Germline	Chr1:63638677	Conflicting classifications of pathogenicity	PGM1-congenital disorder of glycosylation	Criteria Provided Conflicting Classifications		rs_752232600	2 SubmittersRCV001096004
NM_024079.5(ALG8):c.1516G>A (p.Ala506Thr)	SNV Germline	Chr11:78101029	Conflicting classifications of pathogenicity	ALG8 congenital disorder of glycosylation ALG8-related disorder	Criteria Provided Conflicting Classifications		rs_149692072	3 SubmittersRCV001112602 RCV004538335
NM_012463.4(ATP6V0A2):c.1323A>G (p.Gln441=)	SNV Germline	Chr12:123744334	Conflicting classifications of pathogenicity	Cutis laxa with osteodystrophy ALG9 congenital disorder of glycosylation	Criteria Provided Conflicting Classifications		rs_985944979	2 SubmittersRCV001113316 RCV003502588
NM_012463.4(ATP6V0A2):c.1524C>T (p.Val508=)	SNV Germline	Chr12:123744891	Conflicting classifications of pathogenicity	Cutis laxa with osteodystrophy Condition: not provided ALG9 congenital disorder of glycosylation	Criteria Provided Conflicting Classifications		rs_182439983	3 SubmittersRCV001114686 RCV001561688 RCV002069848
NM_012463.4(ATP6V0A2):c.2439G>A (p.Ala813=)	SNV Germline	Chr12:123756960	Conflicting classifications of pathogenicity	Cutis laxa with osteodystrophy ALG9 congenital disorder of glycosylation	Criteria Provided Conflicting Classifications		rs_200933894	2 SubmittersRCV001111402 RCV003609178
NM_012463.4(ATP6V0A2):c.1515-12T>G	SNV Germline	Chr12:123744870	Conflicting classifications of pathogenicity	Cutis laxa with osteodystrophy ALG9 congenital disorder of glycosylation	Criteria Provided Conflicting Classifications		rs_201512900	2 SubmittersRCV001113319 RCV003502589
NM_153603.4(COG7):c.1629T>C (p.Tyr543=)	SNV Germline	Chr16:23406109	Conflicting classifications of pathogenicity	COG7 congenital disorder of glycosylation	Criteria Provided Conflicting Classifications		rs_760342154	2 SubmittersRCV001121138
NM_153603.4(COG7):c.1305T>C (p.Asp435=)	SNV Germline	Chr16:23413552	Conflicting classifications of pathogenicity	COG7 congenital disorder of glycosylation	Criteria Provided Conflicting Classifications		rs_1019861391	2 SubmittersRCV001116226
NM_153603.4(COG7):c.1167G>A (p.Gln389=)	SNV Germline	Chr16:23417092	Conflicting classifications of pathogenicity	COG7 congenital disorder of glycosylation	Criteria Provided Conflicting Classifications		rs_201313774	2 SubmittersRCV001117667
NM_153603.4(COG7):c.1137+9G>A	SNV Germline	Chr16:23418691	Conflicting classifications of pathogenicity	COG7 congenital disorder of glycosylation	Criteria Provided Conflicting Classifications		rs_746762111	2 SubmittersRCV001117668
NM_153603.4(COG7):c.687+14C>T	SNV Germline	Chr16:23434622	Conflicting classifications of pathogenicity	COG7 congenital disorder of glycosylation	Criteria Provided Conflicting Classifications		rs_139853094	2 SubmittersRCV001119241
NM_032382.5(COG8):c.1413+12C>G	SNV Germline	Chr16:69334509	Conflicting classifications of pathogenicity	COG8-congenital disorder of glycosylation	Criteria Provided Conflicting Classifications		rs_977274573	2 SubmittersRCV001116769
NM_003859.3(DPM1):c.570C>T (p.Tyr190=)	SNV Germline	Chr20:50936256	Conflicting classifications of pathogenicity	Congenital disorder of glycosylation type 1E	Criteria Provided Conflicting Classifications		rs_754109868	2 SubmittersRCV001142330
NM_003859.3(DPM1):c.456A>G (p.Gly152=)	SNV Germline	Chr20:50942069	Conflicting classifications of pathogenicity	Congenital disorder of glycosylation type 1E	Criteria Provided Conflicting Classifications		rs_370598866	2 SubmittersRCV001142331
NM_003859.3(DPM1):c.295+7C>T	SNV Germline	Chr20:50948622	Conflicting classifications of pathogenicity	Congenital disorder of glycosylation type 1E	Criteria Provided Conflicting Classifications		rs_775797102	2 SubmittersRCV001137588
NM_005787.6(ALG3):c.696C>T (p.Leu232=)	SNV Germline	Chr3:184244631	Conflicting classifications of pathogenicity	ALG3-congenital disorder of glycosylation	Criteria Provided Conflicting Classifications		rs_1174962210	2 SubmittersRCV001149024
NM_005787.6(ALG3):c.66G>A (p.Lys22=)	SNV Germline	Chr3:184248875	Conflicting classifications of pathogenicity	ALG3-congenital disorder of glycosylation	Criteria Provided Conflicting Classifications		rs_778269575	2 SubmittersRCV001144442
NM_024592.5(SRD5A3):c.673G>A (p.Gly225Ser)	SNV Germline	Chr4:55367698	Conflicting classifications of pathogenicity	SRD5A3-congenital disorder of glycosylation Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_748408459	3 SubmittersRCV001144402 RCV004032734
NM_006765.4(TUSC3):c.408G>A (p.Gly136=)	SNV Germline	Chr8:15650796	Conflicting classifications of pathogenicity	Congenital disorder of glycosylation Condition: not provided	Criteria Provided Conflicting Classifications		rs_762831751	2 SubmittersRCV001158588 RCV001726437
NM_006765.4(TUSC3):c.852T>C (p.Ile284=)	SNV Germline	Chr8:15730719	Conflicting classifications of pathogenicity	Congenital disorder of glycosylation Condition: not provided	Criteria Provided Conflicting Classifications		rs_781741877	2 SubmittersRCV001161812 RCV003438692
NM_006765.4(TUSC3):c.*2397G>A	SNV Germline	Chr8:15766553	Conflicting classifications of pathogenicity	Congenital disorder of glycosylation Condition: not provided	Criteria Provided Conflicting Classifications		rs_141748006	2 SubmittersRCV001163540 RCV003222239
NM_006765.4(TUSC3):c.568-15A>G	SNV Germline	Chr8:15662141	Conflicting classifications of pathogenicity	Congenital disorder of glycosylation Intellectual disability, autosomal recessive 7	Criteria Provided Conflicting Classifications		rs_186717319	2 SubmittersRCV001161809 RCV003619738
NM_024079.5(ALG8):c.1533T>A (p.Tyr511Ter)	SNV Unknown	Chr11:78101012	Likely pathogenic	ALG8 congenital disorder of glycosylation	Criteria Provided Single Submitter		rs_1859771094	1 SubmittersRCV001196678
NM_004870.4(MPDU1):c.514C>T (p.Gln172Ter)	SNV Unknown	Chr17:7587167	Likely pathogenic	MPDU1-congenital disorder of glycosylation	Criteria Provided Single Submitter		rs_999384296	1 SubmittersRCV001196730
NM_005787.6(ALG3):c.444+2T>G	SNV Unknown	Chr3:184245466	Likely pathogenic	ALG3-congenital disorder of glycosylation	Criteria Provided Single Submitter		rs_1719083745	1 SubmittersRCV001196118
NM_032382.5(COG8):c.1583-1G>A	SNV Germline	Chr16:69331096	Pathogenic	COG8-congenital disorder of glycosylation	No Assertion Criteria Provided		rs_1287837570	1 SubmittersRCV001200906
NM_033087.4(ALG2):c.1226G>A (p.Arg409Gln)	SNV Germline	Chr9:99217959	Conflicting classifications of pathogenicity	ALG2-congenital disorder of glycosylation Congenital myasthenic syndrome 14 Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_369231996	2 SubmittersRCV001224438 RCV004032510
NM_012463.4(ATP6V0A2):c.1118A>G (p.Asn373Ser)	SNV Germline	Chr12:123743864	Conflicting classifications of pathogenicity	Condition: not provided ALG9 congenital disorder of glycosylation	Criteria Provided Conflicting Classifications		rs_771839087	2 SubmittersRCV001760196 RCV001216411
NM_138459.5(NUS1):c.74G>A (p.Trp25Ter)	SNV Germline	Chr6:117675744	Pathogenic	Congenital disorder of glycosylation, type IAA	Criteria Provided Single Submitter		rs_1772963498	1 SubmittersRCV001204153
NM_003859.3(DPM1):c.1A>G (p.Met1Val)	SNV Germline	Chr20:50958523	Conflicting classifications of pathogenicity	Congenital disorder of glycosylation type 1E not specified	Criteria Provided Conflicting Classifications		rs_139624629	3 SubmittersRCV001205494 RCV003235494
NM_005660.3(SLC35A2):c.562G>A (p.Gly188Ser)	SNV Germline	ChrX:48905347	Conflicting classifications of pathogenicity	SLC35A2-congenital disorder of glycosylation Condition: not provided	Criteria Provided Conflicting Classifications		rs_1023107993	2 SubmittersRCV001211097 RCV002255177
NM_012463.4(ATP6V0A2):c.1605+1G>A	SNV Germline	Chr12:123744973	Pathogenic	ALG9 congenital disorder of glycosylation	Criteria Provided Single Submitter		rs_1956646992	1 SubmittersRCV001242368
NM_002633.3(PGM1):c.1495C>T (p.Arg499Ter)	SNV Germline	Chr1:63654362	Pathogenic/Likely pathogenic	PGM1-congenital disorder of glycosylation	Criteria Provided Multiple Submitters No Conflicts		rs_745993071	3 SubmittersRCV001253738
NM_001371533.1(FUT8):c.12G>A (p.Trp4Ter)	SNV Germline	Chr14:65561575	Likely pathogenic	Congenital disorder of glycosylation with defective fucosylation 1	No Assertion Criteria Provided		rs_1885915172	1 SubmittersRCV001261986
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_005660.3(SLC35A2):c.696G>A (p.Trp232Ter)	SNV Germline	ChrX:48905213	Pathogenic	SLC35A2-congenital disorder of glycosylation	Criteria Provided Single Submitter		rs_868941656	1 SubmittersRCV001265566
NM_002633.3(PGM1):c.878G>A (p.Arg293Gln)	SNV Germline	Chr1:63636238	Conflicting classifications of pathogenicity	Inborn genetic diseases PGM1-congenital disorder of glycosylation	Criteria Provided Conflicting Classifications		rs_1466885233	2 SubmittersRCV001267113 RCV003106171
NM_005787.6(ALG3):c.2T>C (p.Met1Thr)	SNV Germline	Chr3:184248939	Pathogenic/Likely pathogenic	Condition: not provided ALG3-congenital disorder of glycosylation	Criteria Provided Multiple Submitters No Conflicts		rs_773271124	2 SubmittersRCV001269546 RCV003770408
NM_005660.3(SLC35A2):c.989T>C (p.Leu330Pro)	SNV Germline	ChrX:48904920	Likely pathogenic	SLC35A2-congenital disorder of glycosylation	Criteria Provided Single Submitter		rs_2063477376	1 SubmittersRCV001289474
NM_001382.4(DPAGT1):c.1197T>A (p.Tyr399Ter)	SNV Unknown	Chr11:119097028	Likely pathogenic	Congenital disorder of glycosylation	No Assertion Criteria Provided		rs_1946406410	1 SubmittersRCV001291273
NM_001382.4(DPAGT1):c.1117C>G (p.Pro373Ala)	SNV Unknown	Chr11:119097186	Likely pathogenic	Congenital disorder of glycosylation	No Assertion Criteria Provided		rs_1210999092	1 SubmittersRCV001291451
NM_001382.4(DPAGT1):c.419A>G (p.Tyr140Cys)	SNV Germline	Chr11:119100707	Likely pathogenic	Congenital disorder of glycosylation	No Assertion Criteria Provided		rs_777142166	1 SubmittersRCV001291400
NM_001382.4(DPAGT1):c.2T>C (p.Met1Thr)	SNV Unknown	Chr11:119101654	Likely pathogenic	Congenital disorder of glycosylation	No Assertion Criteria Provided		rs_1946512581	1 SubmittersRCV001291447
NM_007357.3(COG2):c.1855C>T (p.Gln619Ter)	SNV Germline	Chr1:230690074	Likely pathogenic	Congenital disorder of glycosylation, type IIq	Criteria Provided Single Submitter		rs_1662986310	1 SubmittersRCV001291776
NM_001367916.1(MAGT1):c.-3A>G	SNV Germline	ChrX:77895413	Conflicting classifications of pathogenicity	Congenital disorder of glycosylation, type ICC X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia	Criteria Provided Conflicting Classifications		rs_781882781	2 SubmittersRCV001291763 RCV001499822
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_001164277.2(SLC37A4):c.264C>T (p.Gly88=)	SNV Germline	Chr11:119028311	Conflicting classifications of pathogenicity	Glucose-6-phosphate transport defect Congenital disorder of glycosylation, type IIw Phosphate transport defect Glucose-6-phosphate transport defect	Criteria Provided Conflicting Classifications		rs_782292086	3 SubmittersRCV001319846 RCV002486269
NM_145059.3(FCSK):c.2221C>T (p.Arg741Ter)	SNV Unknown	Chr16:70474855	Likely pathogenic	Congenital disorder of glycosylation with defective fucosylation 2	Criteria Provided Single Submitter		rs_562205568	1 SubmittersRCV001332946
NM_005660.3(SLC35A2):c.340A>T (p.Lys114Ter)	SNV Germline	ChrX:48906478	Pathogenic	SLC35A2-congenital disorder of glycosylation	Criteria Provided Single Submitter		rs_2063491273	1 SubmittersRCV001331522
NM_138459.5(NUS1):c.246C>G (p.His82Gln)	SNV Germline	Chr6:117675916	Conflicting classifications of pathogenicity	Congenital disorder of glycosylation, type IAA Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_1023259853	3 SubmittersRCV001335391 RCV003169564
NM_024740.2(ALG9):c.125G>C (p.Arg42Pro)	SNV Germline	Chr11:111871358	Conflicting classifications of pathogenicity	ALG9 congenital disorder of glycosylation ALG9-related disorder	Criteria Provided Conflicting Classifications		rs_781880611	3 SubmittersRCV001336661 RCV003963229
NM_007347.5(AP4E1):c.3313C>T (p.Arg1105Ter)	SNV Germline	Chr15:51002561	Pathogenic	ALG12-congenital disorder of glycosylation Hereditary spastic paraplegia 51 Spastic paraplegia	Criteria Provided Single Submitter		rs_1313275799	3 SubmittersRCV001333647 RCV001779155 RCV001849507
NM_001382.4(DPAGT1):c.1037A>G (p.His346Arg)	SNV Germline	Chr11:119097266	Conflicting classifications of pathogenicity	Congenital myasthenic syndrome 13 DPAGT1-congenital disorder of glycosylation Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_1301940016	2 SubmittersRCV001338067 RCV002547374
NM_032382.5(COG8):c.1468G>T (p.Gly490Trp)	SNV Germline	Chr16:69332828	Conflicting classifications of pathogenicity	COG8-congenital disorder of glycosylation Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_202134146	2 SubmittersRCV001344146 RCV003246910
NM_005787.6(ALG3):c.1061G>A (p.Arg354His)	SNV Germline	Chr3:184242906	Pathogenic	ALG3-congenital disorder of glycosylation	Criteria Provided Single Submitter		rs_546890576	1 SubmittersRCV001361335
NM_032382.5(COG8):c.19A>G (p.Ile7Val)	SNV Germline	Chr16:69339534	Conflicting classifications of pathogenicity	COG8-congenital disorder of glycosylation Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_200765847	2 SubmittersRCV001370501 RCV002550106
NM_005660.3(SLC35A2):c.426+1G>A	SNV Germline	ChrX:48906391	Pathogenic	SLC35A2-congenital disorder of glycosylation	Criteria Provided Single Submitter		rs_2147489491	1 SubmittersRCV001374455
NM_024079.5(ALG8):c.479A>T (p.His160Leu)	SNV Germline	Chr11:78119249	Pathogenic	ALG8 congenital disorder of glycosylation	No Assertion Criteria Provided		rs_2136915887	1 SubmittersRCV001374721
NM_004481.5(GALNT2):c.623G>A (p.Arg208Gln)	SNV Germline	Chr1:230243321	Likely pathogenic	Congenital disorder of glycosylation, type iit	Criteria Provided Single Submitter		rs_2102741708	1 SubmittersRCV001376175
NM_002633.3(PGM1):c.988G>C (p.Gly330Arg)	SNV Germline	Chr1:63636348	Pathogenic/Likely pathogenic	PGM1-congenital disorder of glycosylation	Criteria Provided Multiple Submitters No Conflicts		rs_777164338	2 SubmittersRCV001378469
NM_002633.3(PGM1):c.1281-2A>G	SNV Germline	Chr1:63651667	Likely pathogenic	PGM1-congenital disorder of glycosylation	Criteria Provided Single Submitter		rs_1649810314	1 SubmittersRCV001377288
NM_012463.4(ATP6V0A2):c.2203C>T (p.Gln735Ter)	SNV Germline	Chr12:123754447	Pathogenic	ALG9 congenital disorder of glycosylation	Criteria Provided Single Submitter		rs_2135920743	1 SubmittersRCV001387990
NM_005660.3(SLC35A2):c.327T>G (p.Tyr109Ter)	SNV Germline	ChrX:48906491	Pathogenic	SLC35A2-congenital disorder of glycosylation	Criteria Provided Single Submitter		rs_2147489736	1 SubmittersRCV001385378
NM_002633.3(PGM1):c.247-5696A>T	SNV Germline	Chr1:63623729	Conflicting classifications of pathogenicity	PGM1-congenital disorder of glycosylation Condition: not provided not specified	Criteria Provided Conflicting Classifications		rs_200881174	4 SubmittersRCV001400107 RCV001581119 RCV001820098
NM_003859.3(DPM1):c.371A>G (p.His124Arg)	SNV Germline	Chr20:50945848	Likely pathogenic	Congenital disorder of glycosylation type 1E	Criteria Provided Single Submitter		rs_2123115725	1 SubmittersRCV001420139
NM_004481.5(GALNT2):c.648A>T (p.Gln216His)	SNV Germline	Chr1:230243346	Conflicting classifications of pathogenicity	Condition: not provided Congenital disorder of glycosylation, type iit	Criteria Provided Conflicting Classifications		rs_142046356	2 SubmittersRCV001424245 RCV002468246
NM_005787.6(ALG3):c.72G>A (p.Trp24Ter)	SNV Germline	Chr3:184248869	Pathogenic	ALG3-congenital disorder of glycosylation	Criteria Provided Single Submitter		rs_1023520147	2 SubmittersRCV001526666
NM_024740.2(ALG9):c.701+1G>A	SNV Unknown	Chr11:111857601	Likely pathogenic	ALG9 congenital disorder of glycosylation Gillessen-Kaesbach-Nishimura syndrome	Criteria Provided Single Submitter		rs_2137107185	1 SubmittersRCV001536021
NM_001382.4(DPAGT1):c.902G>A (p.Arg301His)	SNV Germline	Chr11:119097870	Pathogenic/Likely pathogenic	Abnormality of metabolism/homeostasis DPAGT1-congenital disorder of glycosylation Congenital myasthenic syndrome 13 DPAGT1-congenital disorder of glycosylation	Criteria Provided Multiple Submitters No Conflicts		rs_768416381	3 SubmittersRCV001814361 RCV002568239 RCV003987875
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_033087.4(ALG2):c.176G>A (p.Cys59Tyr)	SNV Germline	Chr9:99221719	Likely pathogenic	ALG2-congenital disorder of glycosylation	No Assertion Criteria Provided		rs_757068626	1 SubmittersRCV001542584
NM_005787.6(ALG3):c.1154G>C (p.Arg385Thr)	SNV Germline	Chr3:184242813	Pathogenic	ALG3-congenital disorder of glycosylation	No Assertion Criteria Provided		rs_376927697	1 SubmittersRCV001543410
NM_005787.6(ALG3):c.796C>T (p.Arg266Cys)	SNV Germline	Chr3:184243927	Pathogenic	ALG3-congenital disorder of glycosylation Condition: not provided	Criteria Provided Single Submitter		rs_747953768	2 SubmittersRCV001543406 RCV001658270
NM_005787.6(ALG3):c.656T>C (p.Leu219Pro)	SNV Germline	Chr3:184244671	Pathogenic	ALG3-congenital disorder of glycosylation	No Assertion Criteria Provided		rs_1423328264	1 SubmittersRCV001543404
NM_005787.6(ALG3):c.521A>G (p.Asn174Ser)	SNV Germline	Chr3:184245282	Likely pathogenic	ALG3-congenital disorder of glycosylation	Criteria Provided Single Submitter		rs_1719068613	2 SubmittersRCV001543411
NM_001164277.2(SLC37A4):c.1267C>T (p.Arg423Ter)	SNV Germline	Chr11:119024933	Pathogenic/Likely pathogenic	Congenital disorder of glycosylation Congenital disorder of glycosylation, type IIw Glucose-6-phosphate transport defect Congenital disorder of glycosylation, type IIw Phosphate transport defect	Criteria Provided Multiple Submitters No Conflicts		rs_2134626266	4 SubmittersRCV001543403 RCV001647389 RCV002506653
NM_153603.4(COG7):c.1817C>A (p.Ala606Asp)	SNV Germline	Chr16:23398116	Likely pathogenic	COG7 congenital disorder of glycosylation	Criteria Provided Single Submitter		rs_768615420	1 SubmittersRCV001821868
NM_153603.4(COG7):c.1046A>G (p.Asp349Gly)	SNV Germline	Chr16:23418791	Likely pathogenic	COG7 congenital disorder of glycosylation	Criteria Provided Single Submitter		rs_1036433681	1 SubmittersRCV001821869
NM_025191.4(EDEM3):c.940A>T (p.Arg314Ter)	SNV Germline	Chr1:184721300	Pathogenic	Congenital disorder of glycosylation, type 2v	No Assertion Criteria Provided		rs_2102089507	1 SubmittersRCV001580175
NM_025191.4(EDEM3):c.853+1G>T	SNV Germline	Chr1:184723750	Pathogenic	Congenital disorder of glycosylation, type 2v	No Assertion Criteria Provided		rs_2102093642	1 SubmittersRCV001580176
NM_025191.4(EDEM3):c.1407T>A (p.Tyr469Ter)	SNV Germline	Chr1:184712562	Pathogenic	Congenital disorder of glycosylation, type 2v	No Assertion Criteria Provided		rs_902837579	1 SubmittersRCV001580177
NM_025191.4(EDEM3):c.182A>G (p.Asp61Gly)	SNV Germline	Chr1:184749569	Pathogenic	Congenital disorder of glycosylation, type 2v	No Assertion Criteria Provided		rs_777353823	1 SubmittersRCV001580179
NM_025191.4(EDEM3):c.1366G>A (p.Asp456Asn)	SNV Germline	Chr1:184716892	Pathogenic	Congenital disorder of glycosylation, type 2v	No Assertion Criteria Provided		rs_2102081233	1 SubmittersRCV001580180
NM_024740.2(ALG9):c.1363C>T (p.Arg455Ter)	SNV Germline	Chr11:111837577	Conflicting classifications of pathogenicity	Condition: not provided ALG9 congenital disorder of glycosylation	Criteria Provided Conflicting Classifications		rs_782775735	3 SubmittersRCV001771540 RCV002471150
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_012463.4(ATP6V0A2):c.2293+1G>A	SNV Germline	Chr12:123754538	Likely pathogenic	Condition: not provided ALG9 congenital disorder of glycosylation	Criteria Provided Multiple Submitters No Conflicts		rs_750984566	2 SubmittersRCV001780636 RCV003609191
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_003859.3(DPM1):c.439C>T (p.Arg147Cys)	SNV Germline	Chr20:50942086	Conflicting classifications of pathogenicity	Congenital disorder of glycosylation type 1E	Criteria Provided Conflicting Classifications		rs_1225648834	2 SubmittersRCV001795601
NM_138459.5(NUS1):c.692-2A>G	SNV Germline	Chr6:117703603	Likely pathogenic	Intellectual disability, autosomal dominant 55, with seizures Congenital disorder of glycosylation, type IAA	Criteria Provided Multiple Submitters No Conflicts		rs_2114693876	2 SubmittersRCV001809277 RCV001869602
NM_005660.3(SLC35A2):c.803C>T (p.Thr268Ile)	SNV Germline	ChrX:48905106	Likely pathogenic	SLC35A2-congenital disorder of glycosylation	Criteria Provided Single Submitter		rs_2147486594	1 SubmittersRCV001814875
NM_152713.5(STT3A):c.137A>G (p.His46Arg)	SNV Germline	Chr11:125597107	Likely pathogenic	Congenital disorder of glycosylation, type Iw, autosomal dominant	Criteria Provided Single Submitter		rs_2135904246	2 SubmittersRCV001815047
NM_152713.5(STT3A):c.479G>A (p.Arg160Gln)	SNV Germline	Chr11:125604218	Likely pathogenic	Congenital disorder of glycosylation, type Iw, autosomal dominant	Criteria Provided Single Submitter		rs_2135921186	2 SubmittersRCV001815048
NM_152713.5(STT3A):c.1213C>T (p.Arg405Cys)	SNV Germline	Chr11:125612595	Pathogenic	Congenital disorder of glycosylation, type Iw, autosomal dominant	Criteria Provided Single Submitter		rs_2135938300	2 SubmittersRCV001815049
NM_152713.5(STT3A):c.1214G>A (p.Arg405His)	SNV Germline	Chr11:125612596	Likely pathogenic	Congenital disorder of glycosylation, type Iw, autosomal dominant	Criteria Provided Single Submitter		rs_780062429	2 SubmittersRCV001815050
NM_153603.4(COG7):c.1A>G (p.Met1Val)	SNV Germline	Chr16:23452994	Pathogenic	COG7 congenital disorder of glycosylation	Criteria Provided Single Submitter		rs_1051352713	1 SubmittersRCV001815626
NM_024079.5(ALG8):c.206C>T (p.Pro69Leu)	SNV Germline	Chr11:78124183	Likely pathogenic	ALG8 congenital disorder of glycosylation	Criteria Provided Single Submitter		rs_748962880	1 SubmittersRCV001829280
NM_024079.5(ALG8):c.95+1G>A	SNV Germline	Chr11:78139493	Likely pathogenic	Condition: not provided Polycystic liver disease 3 with or without kidney cysts ALG8 congenital disorder of glycosylation	Criteria Provided Multiple Submitters No Conflicts		rs_1323512637	2 SubmittersRCV002034822 RCV002489904
NM_003859.3(DPM1):c.649G>A (p.Ala217Thr)	SNV Germline	Chr20:50936177	Conflicting classifications of pathogenicity	Congenital disorder of glycosylation type 1E	Criteria Provided Conflicting Classifications		rs_1197456861	2 SubmittersRCV001995493
NM_138459.5(NUS1):c.174G>T (p.Lys58Asn)	SNV Germline	Chr6:117675844	Conflicting classifications of pathogenicity	Congenital disorder of glycosylation, type IAA Condition: not provided	Criteria Provided Conflicting Classifications		rs_761121795	2 SubmittersRCV001919194 RCV002074438
NM_138459.5(NUS1):c.15C>A (p.Tyr5Ter)	SNV Germline	Chr6:117675685	Pathogenic	Congenital disorder of glycosylation, type IAA	Criteria Provided Single Submitter		rs_1449400618	1 SubmittersRCV001881454
NM_012463.4(ATP6V0A2):c.118-1G>T	SNV Germline	Chr12:123718622	Likely pathogenic	ALG9 congenital disorder of glycosylation	Criteria Provided Single Submitter		rs_2135879573	1 SubmittersRCV001985792
NM_138459.5(NUS1):c.719T>G (p.Leu240Ter)	SNV Germline	Chr6:117703632	Pathogenic	Congenital disorder of glycosylation, type IAA	Criteria Provided Single Submitter		rs_2114693896	1 SubmittersRCV001863845
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_024592.5(SRD5A3):c.279C>A (p.Cys93Ter)	SNV Germline	Chr4:55359403	Pathogenic	SRD5A3-congenital disorder of glycosylation	Criteria Provided Single Submitter		rs_1482361634	1 SubmittersRCV001901832
NM_001382.4(DPAGT1):c.1139C>T (p.Thr380Ile)	SNV Germline	Chr11:119097164	Likely pathogenic	Congenital myasthenic syndrome 13 DPAGT1-congenital disorder of glycosylation DPAGT1-congenital disorder of glycosylation Congenital myasthenic syndrome 13	Criteria Provided Multiple Submitters No Conflicts		rs_776720609	3 SubmittersRCV001877426 RCV002472315 RCV003236669
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 Congenital disorder of glycosylation not specified	Criteria Provided Conflicting Classifications		rs_778368053	3 SubmittersRCV001998830 RCV002227574 RCV003987953
NM_024740.2(ALG9):c.566-1G>A	SNV Germline	Chr11:111857738	Likely pathogenic	ALG9 congenital disorder of glycosylation ALG9 congenital disorder of glycosylation Gillessen-Kaesbach-Nishimura syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_782379446	2 SubmittersRCV002031468 RCV002498081
NM_003859.3(DPM1):c.571C>T (p.Arg191Ter)	SNV Germline	Chr20:50936255	Pathogenic	Congenital disorder of glycosylation type 1E	Criteria Provided Single Submitter		rs_1324743951	1 SubmittersRCV001982510
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_005660.3(SLC35A2):c.1100A>G (p.Gln367Arg)	SNV Germline	ChrX:48904809	Conflicting classifications of pathogenicity	SLC35A2-congenital disorder of glycosylation Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_782516328	2 SubmittersRCV001989879 RCV002563575
NM_005660.3(SLC35A2):c.385C>T (p.Gln129Ter)	SNV Germline	ChrX:48906433	Pathogenic	SLC35A2-congenital disorder of glycosylation	Criteria Provided Single Submitter		rs_2147489558	1 SubmittersRCV001997611
NM_012463.4(ATP6V0A2):c.2055+4A>C	SNV Germline	Chr12:123751233	Conflicting classifications of pathogenicity	ALG9 congenital disorder of glycosylation Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_2135917390	2 SubmittersRCV001874523 RCV004040451
NM_005216.4(DDOST):c.32C>T (p.Ser11Phe)	SNV Germline	Chr1:20661370	Conflicting classifications of pathogenicity	Congenital disorder of glycosylation type Ir not specified	Criteria Provided Conflicting Classifications		rs_140102515	2 SubmittersRCV001983143 RCV004044409
NM_153603.4(COG7):c.1293G>A (p.Lys431=)	SNV Germline	Chr16:23413564	Conflicting classifications of pathogenicity	COG7 congenital disorder of glycosylation Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_554871778	2 SubmittersRCV001886421 RCV003365497
NM_001382.4(DPAGT1):c.644-1G>T	SNV Germline	Chr11:119098488	Likely pathogenic	DPAGT1-congenital disorder of glycosylation Congenital myasthenic syndrome 13	Criteria Provided Single Submitter		rs_2134903748	1 SubmittersRCV002000274
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_032382.5(COG8):c.1549C>G (p.Leu517Val)	SNV Germline	Chr16:69332747	Conflicting classifications of pathogenicity	COG8-congenital disorder of glycosylation Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_138398268	2 SubmittersRCV001924744 RCV002552886
NM_005660.3(SLC35A2):c.136C>T (p.Gln46Ter)	SNV Germline	ChrX:48909952	Pathogenic	SLC35A2-congenital disorder of glycosylation	Criteria Provided Single Submitter		rs_2147496735	1 SubmittersRCV001956129
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_002633.3(PGM1):c.1544G>A (p.Arg515Gln)	SNV Germline	Chr1:63654411	Pathogenic	PGM1-congenital disorder of glycosylation	Criteria Provided Single Submitter		rs_1453920894	1 SubmittersRCV001904562
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_024079.5(ALG8):c.802C>T (p.Arg268Ter)	SNV Germline	Chr11:78112746	Pathogenic	ALG8 congenital disorder of glycosylation	Criteria Provided Single Submitter		rs_772492143	1 SubmittersRCV001915953
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_003859.3(DPM1):c.494+2T>C	SNV Germline	Chr20:50942029	Likely pathogenic	Congenital disorder of glycosylation type 1E	Criteria Provided Single Submitter		rs_1478040715	1 SubmittersRCV002042647
NM_001382.4(DPAGT1):c.6G>A (p.Trp2Ter)	SNV Germline	Chr11:119101650	Pathogenic	Congenital myasthenic syndrome 13 DPAGT1-congenital disorder of glycosylation	Criteria Provided Single Submitter		rs_2134919748	1 SubmittersRCV001951610
NM_138459.5(NUS1):c.844C>T (p.Arg282Cys)	SNV Germline	Chr6:117706977	Conflicting classifications of pathogenicity	Congenital disorder of glycosylation, type IAA Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_150953098	2 SubmittersRCV001976999 RCV002579689
NM_138459.5(NUS1):c.868C>T (p.Arg290Cys)	SNV Germline	Chr6:117707001	Likely pathogenic	Congenital disorder of glycosylation, type IAA	Criteria Provided Single Submitter		rs_2114696019	1 SubmittersRCV002012498
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_005660.3(SLC35A2):c.610G>A (p.Ala204Thr)	SNV Germline	ChrX:48905299	Conflicting classifications of pathogenicity	SLC35A2-congenital disorder of glycosylation SLC35A2-related disorder	Criteria Provided Conflicting Classifications		rs_2147487234	2 SubmittersRCV002099643 RCV003403670
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_024740.2(ALG9):c.1762G>T (p.Val588Phe)	SNV Germline	Chr11:111786492	Conflicting classifications of pathogenicity	ALG9 congenital disorder of glycosylation Condition: not provided ALG9-related disorder	Criteria Provided Conflicting Classifications		rs_150225347	3 SubmittersRCV002133080 RCV002265062 RCV003923757
NM_005660.3(SLC35A2):c.496C>T (p.Arg166Trp)	SNV Germline	ChrX:48905413	Conflicting classifications of pathogenicity	SLC35A2-congenital disorder of glycosylation Condition: not provided	Criteria Provided Conflicting Classifications		rs_782340868	2 SubmittersRCV002153043 RCV002269391

NM_012463.4(ATP6V0A2):c.187C>T (p.Arg63Ter)

SNV
Germline

Chr12:123718692

Pathogenic

Cutis laxa with osteodystrophy
Condition: not provided
Alpha-1-antitrypsin deficiency
ALG9 congenital disorder of glycosylation
Cutis laxa

Criteria Provided
Multiple Submitters
No Conflicts

CA223052

rs_80356750

5 SubmittersRCV000000888 RCV000790836 RCV004526587 RCV003502506 RCV004579513

NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter)

SNV
Germline

Chr12:88077263

Pathogenic/Likely pathogenic

Joubert syndrome 5
Meckel-Gruber syndrome
Condition: not provided
Bardet-Biedl syndrome 14
Joubert syndrome 5
Meckel syndrome, type 4
Senior-Loken syndrome 6
Leber congenital amaurosis 10
Meckel syndrome, type 4
Joubert syndrome 5
Senior-Loken syndrome 6
Retinitis pigmentosa
Nephronophthisis
Familial aplasia of the vermis
Meckel-Gruber syndrome
Bardet-Biedl syndrome 14
Bardet-Biedl syndrome 14
Joubert syndrome 5
Meckel syndrome, type 4
Senior-Loken syndrome 6
COG7 congenital disorder of glycosylation
Abnormality of the nervous system
Retinal dystrophy
Meckel syndrome, type 6
Leber congenital amaurosis
CEP290-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA150917

rs_137852832

27 SubmittersRCV000001396 RCV000114202 RCV000086298 RCV000515339 RCV001000092 RCV001002714 RCV000787813 RCV000531295 RCV001542773 RCV001836689 RCV001815157 RCV001836688 RCV001073790 RCV001261607 RCV001276487 RCV003147273

NM_005787.6(ALG3):c.353G>A (p.Gly118Asp)

SNV
Germline

Chr3:184245559

Pathogenic

ALG3-congenital disorder of glycosylation

No Assertion Criteria Provided

CA252104

rs_28940588

1 SubmittersRCV000002209

NM_005787.6(ALG3):c.165C>T (p.Gly55=)

SNV
Germline

Chr3:184248776

Pathogenic/Likely pathogenic

ALG3-congenital disorder of glycosylation

Criteria Provided
Multiple Submitters
No Conflicts

CA252105

rs_387906273

4 SubmittersRCV000002210

NM_005787.6(ALG3):c.512G>A (p.Arg171Gln)

SNV
Germline

Chr3:184245291

Pathogenic/Likely pathogenic

ALG3-congenital disorder of glycosylation
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA252107

rs_119103236

5 SubmittersRCV000002211 RCV002512673

NM_005787.6(ALG3):c.470T>A (p.Met157Lys)

SNV
Germline

Chr3:184245333

Pathogenic

ALG3-congenital disorder of glycosylation

No Assertion Criteria Provided

CA252110

rs_119103238

1 SubmittersRCV000002213

NM_024079.5(ALG8):c.96-2A>G

SNV
Germline

Chr11:78127438

Pathogenic

ALG8 congenital disorder of glycosylation

No Assertion Criteria Provided

CA382100102

rs_1555073109

1 SubmittersRCV000002669

NM_024079.5(ALG8):c.139A>C (p.Thr47Pro)

SNV
Germline

Chr11:78127393

Pathogenic

ALG8 congenital disorder of glycosylation
ALG8 congenital disorder of glycosylation
Polycystic liver disease 3 with or without kidney cysts

Criteria Provided
Single Submitter

CA252325

rs_121908293

2 SubmittersRCV000002670 RCV002496232

NM_024079.5(ALG8):c.673+4A>G

SNV
Germline

Chr11:78114262

Likely pathogenic

ALG8 congenital disorder of glycosylation
ALG8 congenital disorder of glycosylation
Polycystic liver disease 3 with or without kidney cysts

Criteria Provided
Single Submitter

CA600370794

rs_1470636347

2 SubmittersRCV000002671 RCV002496233

NM_024079.5(ALG8):c.824G>A (p.Gly275Asp)

SNV
Germline

Chr11:78112724

Likely pathogenic

ALG8 congenital disorder of glycosylation
ALG8 congenital disorder of glycosylation
Polycystic liver disease 3 with or without kidney cysts

Criteria Provided
Single Submitter

CA252326

rs_121908294

2 SubmittersRCV000002672 RCV002496234

NM_033087.4(ALG2):c.393G>T (p.Lys131Asn)

SNV
Germline

Chr9:99218792

Pathogenic

ALG2-congenital disorder of glycosylation

No Assertion Criteria Provided

CA252407

rs_730880304

1 SubmittersRCV004562185

NM_032382.5(COG8):c.1611C>G (p.Tyr537Ter)

SNV
Germline

Chr16:69331067

Pathogenic

COG8-congenital disorder of glycosylation

No Assertion Criteria Provided

CA252851

rs_121434387

1 SubmittersRCV000003832

NM_032382.5(COG8):c.1413+1G>A

SNV
Germline

Chr16:69334520

Pathogenic

COG8-congenital disorder of glycosylation

No Assertion Criteria Provided

rs_1264383808

1 SubmittersRCV000003833

NM_153603.4(COG7):c.169+4A>C

SNV
Germline

Chr16:23452822

Pathogenic

COG7 congenital disorder of glycosylation

Criteria Provided
Single Submitter

CA494173407

rs_1555497568

2 SubmittersRCV000003835

NM_153603.4(COG7):c.170-7A>G

SNV
Germline

Chr16:23445968

Likely pathogenic

COG7 congenital disorder of glycosylation
Condition: not provided

Criteria Provided
Single Submitter

CA658653833

rs_1555496968

2 SubmittersRCV000003836 RCV001090341

NM_024740.2(ALG9):c.860A>G (p.Tyr287Cys)

SNV
Germline

Chr11:111853415

Pathogenic

ALG9 congenital disorder of glycosylation

No Assertion Criteria Provided

CA252862

rs_121908023

1 SubmittersRCV000003947

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_004870.4(MPDU1):c.218G>A (p.Gly73Glu)

SNV
Germline

Chr17:7585994

Conflicting classifications of pathogenicity

MPDU1-congenital disorder of glycosylation
Condition: not provided

Criteria Provided
Conflicting Classifications

CA117816

rs_104894586

4 SubmittersRCV000006225 RCV000081186

NM_004870.4(MPDU1):c.356T>C (p.Leu119Pro)

SNV
Germline

Chr17:7586745

Pathogenic

MPDU1-congenital disorder of glycosylation

No Assertion Criteria Provided

CA117817

rs_104894587

1 SubmittersRCV000006226

NM_004870.4(MPDU1):c.2T>C (p.Met1Thr)

SNV
Germline

Chr17:7583864

Pathogenic

MPDU1-congenital disorder of glycosylation

No Assertion Criteria Provided

CA117818

rs_104894588

1 SubmittersRCV000006227

NM_004870.4(MPDU1):c.221T>C (p.Leu74Ser)

SNV
Germline

Chr17:7585997

Pathogenic

MPDU1-congenital disorder of glycosylation

No Assertion Criteria Provided

CA117820

rs_104894589

1 SubmittersRCV000006229

NM_003859.3(DPM1):c.274C>G (p.Arg92Gly)

SNV
Germline

Chr20:50948650

Pathogenic

Congenital disorder of glycosylation type 1E

Criteria Provided
Single Submitter

CA118111

rs_121908583

2 SubmittersRCV000006676

NM_001164277.2(SLC37A4):c.148+1G>A

SNV
Germline

Chr11:119029221

Pathogenic/Likely pathogenic

Glucose-6-phosphate transport defect
Phosphate transport defect
Phosphate transport defect
Glucose-6-phosphate transport defect
Congenital disorder of glycosylation, type IIw

Criteria Provided
Multiple Submitters
No Conflicts

rs_1943672400

4 SubmittersRCV000007344 RCV002223174 RCV002496291

NM_001164277.2(SLC37A4):c.83G>A (p.Arg28His)

SNV
Germline

Chr11:119029287

Pathogenic/Likely pathogenic

Glucose-6-phosphate transport defect
Condition: not provided
Phosphate transport defect
Glucose-6-phosphate transport defect
Congenital disorder of glycosylation, type IIw

Criteria Provided
Multiple Submitters
No Conflicts

CA219358

rs_121908978

8 SubmittersRCV000007345 RCV000059144 RCV002482839

NM_001164277.2(SLC37A4):c.1243C>T (p.Arg415Ter)

SNV
Germline

Chr11:119024957

Pathogenic/Likely pathogenic

Glucose-6-phosphate transport defect
Phosphate transport defect
Congenital disorder of glycosylation, type IIw
Phosphate transport defect
Glucose-6-phosphate transport defect
Congenital disorder of glycosylation, type IIw

Criteria Provided
Multiple Submitters
No Conflicts

CA254006

rs_121908979

7 SubmittersRCV000007346 RCV001196429 RCV003989281 RCV002496292

NM_001164277.2(SLC37A4):c.1016G>A (p.Gly339Asp)

SNV
Germline

Chr11:119025298

Pathogenic/Likely pathogenic

Glucose-6-phosphate transport defect
Condition: not provided
Congenital disorder of glycosylation, type IIw
Glucose-6-phosphate transport defect
Phosphate transport defect

Criteria Provided
Multiple Submitters
No Conflicts

CA219275

rs_121908980

6 SubmittersRCV000007347 RCV000059117 RCV002482840

NM_002408.3(MGAT2):c.869C>T (p.Ser290Phe)

SNV
Germline

Chr14:49622137

Pathogenic

MGAT2-congenital disorder of glycosylation

No Assertion Criteria Provided

CA254036

rs_104894446

1 SubmittersRCV000007405

NM_002408.4(MGAT2):c.785A>G (p.His262Arg)

SNV
Germline

Chr14:49622053

Pathogenic

MGAT2-congenital disorder of glycosylation

No Assertion Criteria Provided

CA254037

rs_104894447

1 SubmittersRCV000007406

NM_002408.4(MGAT2):c.952A>G (p.Asn318Asp)

SNV
Germline

Chr14:49622220

Pathogenic

MGAT2-congenital disorder of glycosylation

No Assertion Criteria Provided

CA254038

rs_104894448

1 SubmittersRCV000007407

NM_002408.4(MGAT2):c.1017T>A (p.Cys339Ter)

SNV
Germline

Chr14:49622285

Pathogenic

MGAT2-congenital disorder of glycosylation

No Assertion Criteria Provided

CA254039

rs_104894449

1 SubmittersRCV000007408

NM_001382.4(DPAGT1):c.509A>G (p.Tyr170Cys)

SNV
Germline

Chr11:119100396

Conflicting classifications of pathogenicity

DPAGT1-congenital disorder of glycosylation
Congenital myasthenic syndrome 13
DPAGT1-congenital disorder of glycosylation
Congenital disorder of glycosylation
Condition: not provided

Criteria Provided
Conflicting Classifications

CA256258

rs_28934876

4 SubmittersRCV000013090 RCV000694750 RCV001291042 RCV001567586

NM_002633.3(PGM1):c.343A>G (p.Thr115Ala)

SNV
Germline

Chr1:63629521

Pathogenic

PGM1-congenital disorder of glycosylation

No Assertion Criteria Provided

CA123324

rs_121918371

1 SubmittersRCV000014620

NM_002633.3(PGM1):c.1145-1G>C

SNV
Germline

Chr1:63648516

Pathogenic

PGM1-congenital disorder of glycosylation

No Assertion Criteria Provided

CA123325

rs_587776801

1 SubmittersRCV000014621

NM_024592.5(SRD5A3):c.320G>A (p.Trp107Ter)

SNV
Germline

Chr4:55359444

Pathogenic

Condition: not provided
SRD5A3-congenital disorder of glycosylation

Criteria Provided
Multiple Submitters
No Conflicts

CA251622

rs_267607093

4 SubmittersRCV001781294 RCV000000891

NM_024592.5(SRD5A3):c.424C>T (p.Arg142Ter)

SNV
Germline

Chr4:55364133

Pathogenic

SRD5A3-congenital disorder of glycosylation
Abnormality of the nervous system

Criteria Provided
Single Submitter

CA251624

rs_267607095

2 SubmittersRCV000000892 RCV001814006

NM_024592.5(SRD5A3):c.489C>A (p.Tyr163Ter)

SNV
Germline

Chr4:55364198

Pathogenic

SRD5A3-congenital disorder of glycosylation

No Assertion Criteria Provided

CA251626

rs_267607092

1 SubmittersRCV000000893

NM_024592.5(SRD5A3):c.29C>A (p.Ser10Ter)

SNV
Germline

Chr4:55346365

Pathogenic

SRD5A3-congenital disorder of glycosylation

No Assertion Criteria Provided

CA251628

rs_267607094

1 SubmittersRCV000000894

NM_012463.4(ATP6V0A2):c.732-2A>G

SNV
Germline

Chr12:123735529

Pathogenic

Cutis laxa with osteodystrophy
Condition: not provided
ALG9 congenital disorder of glycosylation

Criteria Provided
Multiple Submitters
No Conflicts

CA342139

rs_80356753

3 SubmittersRCV000020690 RCV002281042 RCV003502507

NM_005216.5(DDOST):c.599G>A (p.Gly200Asp)

SNV
Germline

Chr1:20654660

Pathogenic

Congenital disorder of glycosylation type Ir
Condition: not provided

Criteria Provided
Single Submitter

CA259770

rs_387906831

2 SubmittersRCV000023170 RCV000724013

NM_002408.4(MGAT2):c.711G>C (p.Lys237Asn)

SNV
Germline

Chr14:49621979

Likely pathogenic

MGAT2-congenital disorder of glycosylation
Global developmental delay
Abnormal facial shape
Abnormal glycosylation

Criteria Provided
Multiple Submitters
No Conflicts

CA249931

rs_730882218

4 SubmittersRCV000023200 RCV000162128

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
Condition: not provided
Congenital disorder of glycosylation

Criteria Provided
Multiple Submitters
No Conflicts

CA277976

rs_151173406

7 SubmittersRCV000023496 RCV001562717 RCV000851250

NM_001382.4(DPAGT1):c.349G>A (p.Val117Ile)

SNV
Germline

Chr11:119100777

Likely pathogenic

Congenital myasthenic syndrome 13
Congenital myasthenic syndrome 13
DPAGT1-congenital disorder of glycosylation

Criteria Provided
Single Submitter

CA129971

rs_387907243

2 SubmittersRCV000030601 RCV001852609

NM_001382.4(DPAGT1):c.324G>C (p.Met108Ile)

SNV
Germline

Chr11:119100802

Pathogenic/Likely pathogenic

Congenital myasthenic syndrome 13
Congenital myasthenic syndrome 13
DPAGT1-congenital disorder of glycosylation
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA129972

rs_376039938

3 SubmittersRCV000030602 RCV001224025 RCV003144114

NM_002633.3(PGM1):c.361G>C (p.Gly121Arg)

SNV
Germline

Chr1:63629539

Pathogenic

PGM1-congenital disorder of glycosylation

No Assertion Criteria Provided

CA130545

rs_398122912

1 SubmittersRCV000032990

NM_002633.3(PGM1):c.1507C>T (p.Arg503Ter)

SNV
Germline

Chr1:63654374

Pathogenic

PGM1-congenital disorder of glycosylation

Criteria Provided
Multiple Submitters
No Conflicts

CA130546

rs_397515423

3 SubmittersRCV000032991

NM_001382.4(DPAGT1):c.206T>A (p.Ile69Asn)

SNV
Germline

Chr11:119101094

Pathogenic

DPAGT1-congenital disorder of glycosylation

No Assertion Criteria Provided

CA261216

rs_397514586

1 SubmittersRCV000032992

NM_001382.4(DPAGT1):c.161+5G>A

SNV
Germline

Chr11:119101490

Pathogenic

DPAGT1-congenital disorder of glycosylation

No Assertion Criteria Provided

CA261218

rs_397515322

1 SubmittersRCV000032993

NM_005660.3(SLC35A2):c.991G>A (p.Val331Ile)

SNV
Germline/somatic

ChrX:48904918

Pathogenic

SLC35A2-congenital disorder of glycosylation
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA143742

rs_587776961

5 SubmittersRCV000043515 RCV000498343

NM_005660.3(SLC35A2):c.3G>A (p.Met1Ile)

SNV
Germline

ChrX:48911634

Pathogenic

SLC35A2-congenital disorder of glycosylation

No Assertion Criteria Provided

CA143744

rs_587776962

2 SubmittersRCV000043516

NM_001382.4(DPAGT1):c.341C>G (p.Ala114Gly)

SNV
Germline

Chr11:119100785

Pathogenic/Likely pathogenic

DPAGT1-congenital disorder of glycosylation
Congenital disorder of glycosylation

No Assertion Criteria Provided

CA264781

rs_397515327

2 SubmittersRCV000055659 RCV001291448

NM_001382.4(DPAGT1):c.85A>T (p.Ile29Phe)

SNV
Germline

Chr11:119101571

Pathogenic/Likely pathogenic

DPAGT1-congenital disorder of glycosylation
DPAGT1-congenital disorder of glycosylation
Congenital myasthenic syndrome 13
Congenital myasthenic syndrome 13

Criteria Provided
Multiple Submitters
No Conflicts

CA264783

rs_397515328

3 SubmittersRCV000055660 RCV001209851 RCV003236665

NM_001382.4(DPAGT1):c.503T>C (p.Leu168Pro)

SNV
Germline

Chr11:119100402

Pathogenic

DPAGT1-congenital disorder of glycosylation

No Assertion Criteria Provided

CA264785

rs_397515329

1 SubmittersRCV000055661

NM_001164277.2(SLC37A4):c.448G>A (p.Gly150Arg)

SNV
Germline

Chr11:119027806

Pathogenic/Likely pathogenic

Condition: not provided
Glucose-6-phosphate transport defect
Congenital disorder of glycosylation, type IIw
Phosphate transport defect
Glucose-6-phosphate transport defect

Criteria Provided
Multiple Submitters
No Conflicts

CA219322

rs_193302883

6 SubmittersRCV000059132 RCV000794844 RCV002483116

NM_001164277.2(SLC37A4):c.59G>A (p.Gly20Asp)

SNV
Germline

Chr11:119029311

Pathogenic/Likely pathogenic

Condition: not provided
Glucose-6-phosphate transport defect
Congenital disorder of glycosylation, type IIw
Phosphate transport defect
Glucose-6-phosphate transport defect

Criteria Provided
Multiple Submitters
No Conflicts

CA219337

rs_193302881

6 SubmittersRCV000059137 RCV000699431 RCV002504976

NM_001164277.2(SLC37A4):c.82C>T (p.Arg28Cys)

SNV
Germline

Chr11:119029288

Pathogenic

Condition: not provided
Glucose-6-phosphate transport defect
Phosphate transport defect
Glucose-6-phosphate transport defect
Congenital disorder of glycosylation, type IIw

Criteria Provided
Multiple Submitters
No Conflicts

CA219352

rs_193302882

4 SubmittersRCV000059142 RCV000634548 RCV002477207

NM_001164277.2(SLC37A4):c.899G>A (p.Arg300His)

SNV
Germline

Chr11:119026052

Pathogenic/Likely pathogenic

Condition: not provided
Glucose-6-phosphate transport defect
Glycogen storage disease type 1 due to SLC37A4 mutation
Congenital disorder of glycosylation, type IIw
Phosphate transport defect
Glucose-6-phosphate transport defect

Criteria Provided
Multiple Submitters
No Conflicts

CA219364

rs_193302903

7 SubmittersRCV000059146 RCV001388583 RCV001813754 RCV002498349

NM_012463.4(ATP6V0A2):c.603C>T (p.Ile201=)

SNV
Germline

Chr12:123727864

Conflicting classifications of pathogenicity

Cutis laxa with osteodystrophy
ALG9 congenital disorder of glycosylation

Criteria Provided
Conflicting Classifications

rs_181112338

2 SubmittersRCV001114577 RCV002054920

NM_012463.4(ATP6V0A2):c.1514+1G>A

SNV
Germline

Chr12:123744785

Pathogenic/Likely pathogenic

Condition: not provided
Wrinkly skin syndrome
Cutis laxa with osteodystrophy
ALG9 congenital disorder of glycosylation

Criteria Provided
Multiple Submitters
No Conflicts

CA223051

rs_374480381

4 SubmittersRCV000174367 RCV002498429 RCV003502514

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

6 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

3 SubmittersRCV000081983 RCV000851242 RCV001857394

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_024079.5(ALG8):c.121C>T (p.Arg41Ter)

SNV
Germline

Chr11:78127411

Pathogenic/Likely pathogenic

Condition: not provided
ALG8 congenital disorder of glycosylation
ALG8 congenital disorder of glycosylation
Polycystic liver disease 3 with or without kidney cysts

Criteria Provided
Multiple Submitters
No Conflicts

CA223729

rs_200888240

5 SubmittersRCV000593262 RCV001334177 RCV002490722

NM_024592.5(SRD5A3):c.57G>A (p.Trp19Ter)

SNV
Germline

Chr4:55346393

Pathogenic

Condition: not provided
SRD5A3-congenital disorder of glycosylation
Autism
Global developmental delay
Cone dystrophy
Congenital disorder of glycosylation
Kahrizi syndrome
Abnormality of the nervous system

Criteria Provided
Multiple Submitters
No Conflicts

CA223758

rs_398124401

13 SubmittersRCV000082197 RCV000173528 RCV001003586 RCV000851211 RCV001542529 RCV001814055

NM_024740.2(ALG9):c.694G>C (p.Ala232Pro)

SNV
Germline

Chr11:111857609

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal dominant polycystic liver disease
Gillessen-Kaesbach-Nishimura syndrome
ALG9 congenital disorder of glycosylation
ALG9 congenital disorder of glycosylation
See cases

Criteria Provided
Conflicting Classifications

CA223762

rs_36111204

8 SubmittersRCV000082208 RCV000844763 RCV000764952 RCV001331340 RCV002251972

NM_032382.5(COG8):c.1682C>T (p.Thr561Met)

SNV
Germline

Chr16:69330996

Conflicting classifications of pathogenicity

not specified
Condition: not provided
COG8-congenital disorder of glycosylation
COG8-related disorder

Criteria Provided
Conflicting Classifications

CA223835

rs_143411142

4 SubmittersRCV000082298 RCV000723761 RCV001317887 RCV003964945

NM_153603.4(COG7):c.850A>T (p.Ile284Phe)

SNV
Germline

Chr16:23424908

Conflicting classifications of pathogenicity

Condition: not provided
COG7 congenital disorder of glycosylation
COG7-related disorder

Criteria Provided
Conflicting Classifications

CA224200

rs_115605801

3 SubmittersRCV000082677 RCV001397902 RCV003964948

NM_003859.3(DPM1):c.742T>C (p.Ser248Pro)

SNV
Germline

Chr20:50935173

Likely pathogenic

Congenital disorder of glycosylation type 1E

Criteria Provided
Single Submitter

CA150575

rs_587777114

2 SubmittersRCV000087034

NM_003859.3(DPM1):c.373-5T>A

SNV
Germline

Chr20:50945767

Pathogenic

Congenital disorder of glycosylation type 1E

No Assertion Criteria Provided

CA150576

rs_587777115

1 SubmittersRCV000087035

NM_003859.3(DPM1):c.455G>T (p.Gly152Val)

SNV
Germline

Chr20:50942070

Pathogenic/Likely pathogenic

Congenital disorder of glycosylation type 1E
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA150577

rs_587777116

4 SubmittersRCV000087036 RCV003148647

NM_152713.5(STT3A):c.1877T>C (p.Val626Ala)

SNV
Germline

Chr11:125618475

Likely pathogenic

STT3A-congenital disorder of glycosylation
Condition: not provided

Criteria Provided
Single Submitter

CA249894

rs_587777216

2 SubmittersRCV000088679 RCV003556159

NM_002633.3(PGM1):c.1547T>C (p.Leu516Pro)

SNV
Germline

Chr1:63654414

Pathogenic

PGM1-congenital disorder of glycosylation

No Assertion Criteria Provided

CA156390

rs_587777401

1 SubmittersRCV000119799

NM_002633.3(PGM1):c.112A>T (p.Asn38Tyr)

SNV
Germline

Chr1:63593600

Pathogenic

PGM1-congenital disorder of glycosylation

Criteria Provided
Single Submitter

CA156391

rs_587777402

2 SubmittersRCV000119800

NM_002633.3(PGM1):c.184G>C (p.Asp62His)

SNV
Germline

Chr1:63593672

Conflicting classifications of pathogenicity

PGM1-congenital disorder of glycosylation
Condition: not provided

Criteria Provided
Conflicting Classifications

CA156392

rs_587777403

3 SubmittersRCV000119801 RCV000733693

NM_002633.3(PGM1):c.787G>T (p.Asp263Tyr)

SNV
Germline

Chr1:63634933

Pathogenic

PGM1-congenital disorder of glycosylation
PGM1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA156393

rs_587777404

3 SubmittersRCV000119802 RCV004529993

NM_005660.3(SLC35A2):c.638C>T (p.Ser213Phe)

SNV
Germline

ChrX:48905271

Pathogenic

SLC35A2-congenital disorder of glycosylation

No Assertion Criteria Provided

CA163127

rs_587777436

1 SubmittersRCV000122746

NM_005216.5(DDOST):c.1148C>T (p.Thr383Ile)

SNV
Germline

Chr1:20652643

Conflicting classifications of pathogenicity

Condition: not provided
Congenital disorder of glycosylation type Ir
DDOST-related disorder

Criteria Provided
Conflicting Classifications

CA233896

rs_145940009

3 SubmittersRCV000153147 RCV001081304 RCV003975199

NM_012463.4(ATP6V0A2):c.1486G>A (p.Ala496Thr)

SNV
Germline

Chr12:123744756

Conflicting classifications of pathogenicity

not specified
Cutis laxa with osteodystrophy
Condition: not provided
ALG9 congenital disorder of glycosylation
ATP6V0A2-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA208571

rs_143142641

10 SubmittersRCV000194414 RCV000322153 RCV000723907 RCV001088927 RCV003895048 RCV003338429

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_024592.5(SRD5A3):c.51G>T (p.Ala17=)

SNV
Germline

Chr4:55346387

Conflicting classifications of pathogenicity

not specified
SRD5A3-congenital disorder of glycosylation
Condition: not provided
SRD5A3-related disorder

Criteria Provided
Conflicting Classifications

CA238974

rs_201123766

4 SubmittersRCV000173526 RCV001089144 RCV000724785 RCV003955011

NM_024592.5(SRD5A3):c.43C>T (p.Leu15=)

SNV
Germline

Chr4:55346379

Conflicting classifications of pathogenicity

not specified
Condition: not provided
SRD5A3-congenital disorder of glycosylation

Criteria Provided
Conflicting Classifications

CA238976

rs_376944136

5 SubmittersRCV000173527 RCV000724316 RCV001088891

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_153603.4(COG7):c.2283C>T (p.Thr761=)

SNV
Germline

Chr16:23388950

Conflicting classifications of pathogenicity

not specified
COG7 congenital disorder of glycosylation
Condition: not provided

Criteria Provided
Conflicting Classifications

CA201364

rs_144814374

5 SubmittersRCV000175249 RCV000881030 RCV001815241

NM_012463.4(ATP6V0A2):c.2229T>C (p.Cys743=)

SNV
Germline

Chr12:123754473

Conflicting classifications of pathogenicity

Cutis laxa, recessive
Condition: not provided
ALG9 congenital disorder of glycosylation
ATP6V0A2-related disorder

Criteria Provided
Conflicting Classifications

CA241054

rs_150508296

7 SubmittersRCV000364298 RCV000724863 RCV001087624 RCV003907567

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_032382.5(COG8):c.597C>T (p.Asn199=)

SNV
Germline

Chr16:69335337

Conflicting classifications of pathogenicity

not specified
COG8-congenital disorder of glycosylation
Condition: not provided

Criteria Provided
Conflicting Classifications

CA243564

rs_113642086

4 SubmittersRCV000177389 RCV000352629 RCV000724310

NM_032382.5(COG8):c.1017C>T (p.Gly339=)

SNV
Germline

Chr16:69334917

Conflicting classifications of pathogenicity

not specified
Condition: not provided
COG8-congenital disorder of glycosylation

Criteria Provided
Conflicting Classifications

CA243566

rs_72795277

3 SubmittersRCV000177390 RCV000724531 RCV001087736

NM_024592.5(SRD5A3):c.603G>A (p.Trp201Ter)

SNV
Germline

Chr4:55367628

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
SRD5A3-congenital disorder of glycosylation
Congenital disorder of glycosylation

Criteria Provided
Conflicting Classifications

CA275264

rs_765191836

4 SubmittersRCV000178363 RCV000623571 RCV000779444 RCV000851210

NM_002633.3(PGM1):c.1103C>T (p.Ala368Val)

SNV
Germline

Chr1:63638759

Conflicting classifications of pathogenicity

Condition: not provided
Congenital disorder of glycosylation
PGM1-congenital disorder of glycosylation

Criteria Provided
Conflicting Classifications

CA247153

rs_145972303

3 SubmittersRCV000179849 RCV000344895 RCV000385150

NM_024079.5(ALG8):c.856T>G (p.Trp286Gly)

SNV
Germline

Chr11:78112692

Pathogenic/Likely pathogenic

Condition: not provided
ALG8 congenital disorder of glycosylation

Criteria Provided
Multiple Submitters
No Conflicts

CA247803

rs_794727931

4 SubmittersRCV000180366 RCV000590852

NM_005765.3(ATP6AP2):c.490G>A (p.Val164Ile)

SNV
Germline

ChrX:40597620

Conflicting classifications of pathogenicity

Syndromic X-linked intellectual disability Hedera type
Syndromic X-linked intellectual disability Hedera type
X-linked parkinsonism-spasticity syndrome
Condition: not provided
Syndromic X-linked intellectual disability Hedera type
Congenital disorder of glycosylation, type IIr
X-linked parkinsonism-spasticity syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA313354

rs_142013283

4 SubmittersRCV000640918 RCV000767901 RCV001704969 RCV003224203 RCV004020260

NM_024592.5(SRD5A3):c.480C>T (p.Val160=)

SNV
Germline

Chr4:55364189

Conflicting classifications of pathogenicity

not specified
SRD5A3-congenital disorder of glycosylation

Criteria Provided
Conflicting Classifications

CA209270

rs_797046008

2 SubmittersRCV000194835 RCV002054280

NM_024592.5(SRD5A3):c.566A>C (p.Tyr189Ser)

SNV
Germline

Chr4:55367591

Conflicting classifications of pathogenicity

not specified
SRD5A3-congenital disorder of glycosylation
Condition: not provided

Criteria Provided
Conflicting Classifications

CA205984

rs_35496669

5 SubmittersRCV000192865 RCV000872899 RCV001705093

NM_012463.4(ATP6V0A2):c.2238C>T (p.Cys746=)

SNV
Germline

Chr12:123754482

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cutis laxa with osteodystrophy
ALG9 congenital disorder of glycosylation
ATP6V0A2-related disorder

Criteria Provided
Conflicting Classifications

CA209642

rs_138886791

8 SubmittersRCV000195070 RCV000871111 RCV001109061 RCV001088570 RCV003917736

NM_001164277.2(SLC37A4):c.497G>A (p.Arg166His)

SNV
Germline

Chr11:119027757

Conflicting classifications of pathogenicity

Condition: not provided
Glucose-6-phosphate transport defect
Phosphate transport defect
Glucose-6-phosphate transport defect
Phosphate transport defect
Glucose-6-phosphate transport defect
Congenital disorder of glycosylation, type IIw
SLC37A4-related disorder

Criteria Provided
Conflicting Classifications

CA323754

rs_186476316

6 SubmittersRCV000199219 RCV001084902 RCV001027800 RCV003224223 RCV003955196

NM_001382.4(DPAGT1):c.584C>G (p.Ala195Gly)

SNV
Germline

Chr11:119100321

Pathogenic

DPAGT1-congenital disorder of glycosylation
Congenital disorder of glycosylation

Criteria Provided
Single Submitter

CA279840

rs_863225088

2 SubmittersRCV000202322 RCV001291450

NM_024079.5(ALG8):c.96-6G>C

SNV
Germline

Chr11:78127442

Conflicting classifications of pathogenicity

not specified
ALG8 congenital disorder of glycosylation
Condition: not provided

Criteria Provided
Conflicting Classifications

CA249119

rs_199911532

4 SubmittersRCV000202922 RCV000547349 RCV003390947

NM_002408.4(MGAT2):c.99G>T (p.Lys33Asn)

SNV
Germline

Chr14:49621367

Conflicting classifications of pathogenicity

not specified
MGAT2-congenital disorder of glycosylation
Inborn genetic diseases
Condition: not provided
MGAT2-related disorder

Criteria Provided
Conflicting Classifications

CA248876

rs_140584714

6 SubmittersRCV000202676 RCV000864413 RCV002515496 RCV001722114 RCV003937766

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
ALG1-related disorder
Congenital disorder of glycosylation type I

Criteria Provided
Multiple Submitters
No Conflicts

CA211937

rs_369160589

14 SubmittersRCV000209837 RCV000413040 RCV000851246 RCV001526586 RCV003417756 RCV003225934

NM_005660.3(SLC35A2):c.800A>G (p.Tyr267Cys)

SNV
Germline

ChrX:48905109

Likely pathogenic

SLC35A2-congenital disorder of glycosylation

Criteria Provided
Single Submitter

CA357924

rs_869312860

1 SubmittersRCV000210405

NM_153603.4(COG7):c.2087C>T (p.Ala696Val)

SNV
Germline

Chr16:23392439

Conflicting classifications of pathogenicity

Condition: not provided
COG7 congenital disorder of glycosylation
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7960795

rs_376170815

4 SubmittersRCV000224383 RCV002519759 RCV004020722

NM_002633.3(PGM1):c.1107C>A (p.Ser369Arg)

SNV
Germline

Chr1:63638763

Conflicting classifications of pathogenicity

not specified
PGM1-congenital disorder of glycosylation
Congenital disorder of glycosylation
PGM1-related disorder

Criteria Provided
Conflicting Classifications

CA889720

rs_200407907

5 SubmittersRCV000239180 RCV000290737 RCV000340998 RCV004541474

NM_024079.5(ALG8):c.369-6A>G

SNV
Germline

Chr11:78121180

Conflicting classifications of pathogenicity

not specified
ALG8 congenital disorder of glycosylation
Condition: not provided
ALG8-related disorder

Criteria Provided
Conflicting Classifications

CA6203497

rs_201483866

4 SubmittersRCV000238928 RCV000872008 RCV003480572 RCV004541473

NM_138459.5(NUS1):c.869G>A (p.Arg290His)

SNV
Germline

Chr6:117707002

Conflicting classifications of pathogenicity

Congenital disorder of glycosylation, type IAA
Intellectual disability, autosomal dominant 55, with seizures
Congenital disorder of glycosylation

Criteria Provided
Conflicting Classifications

CA10586234

rs_886037858

4 SubmittersRCV000239673 RCV001253663 RCV001262137

NM_003859.3(DPM1):c.22C>T (p.Arg8Cys)

SNV
Germline

Chr20:50958502

Conflicting classifications of pathogenicity

not specified
Congenital disorder of glycosylation type 1E
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9909270

rs_201392536

4 SubmittersRCV000248387 RCV000310194 RCV000893854

NM_024079.5(ALG8):c.1090C>T (p.Arg364Ter)

SNV
Germline

Chr11:78106895

Pathogenic/Likely pathogenic

Condition: not provided
Polycystic liver disease 3 with or without kidney cysts
Polycystic liver disease 3 with or without kidney cysts
ALG8 congenital disorder of glycosylation
ALG8 congenital disorder of glycosylation
See cases
Inborn genetic diseases
Autosomal dominant polycystic liver disease

Criteria Provided
Multiple Submitters
No Conflicts

CA6203220

rs_376161880

16 SubmittersRCV000356855 RCV000584794 RCV001535890 RCV001843038 RCV002252077 RCV002519040 RCV003448977

NM_005660.3(SLC35A2):c.826C>T (p.Leu276Phe)

SNV
Germline

ChrX:48905083

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
SLC35A2-congenital disorder of glycosylation

Criteria Provided
Conflicting Classifications

CA10406092

rs_782737391

3 SubmittersRCV000377201 RCV002429215 RCV002521886

NM_012463.4(ATP6V0A2):c.522-9G>A

SNV
Germline

Chr12:123727774

Conflicting classifications of pathogenicity

Condition: not provided
Cutis laxa with osteodystrophy
ALG9 congenital disorder of glycosylation
ATP6V0A2-related disorder

Criteria Provided
Conflicting Classifications

CA6861659

rs_189175284

4 SubmittersRCV000277913 RCV000399420 RCV002059154 RCV003920076

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_032382.5(COG8):c.1079G>A (p.Gly360Glu)

SNV
Germline

Chr16:69334855

Conflicting classifications of pathogenicity

Condition: not provided
COG8-congenital disorder of glycosylation
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8133793

rs_142169776

4 SubmittersRCV000725740 RCV000820727 RCV004021185

NM_012463.4(ATP6V0A2):c.1458G>A (p.Ser486=)

SNV
Germline

Chr12:123744728

Conflicting classifications of pathogenicity

Condition: not provided
ALG9 congenital disorder of glycosylation

Criteria Provided
Conflicting Classifications

CA6861929

rs_146156426

3 SubmittersRCV000317767 RCV002059192

NM_012463.4(ATP6V0A2):c.1521C>T (p.Ser507=)

SNV
Germline

Chr12:123744888

Conflicting classifications of pathogenicity

Condition: not provided
ALG9 congenital disorder of glycosylation
ATP6V0A2-related disorder

Criteria Provided
Conflicting Classifications

CA6861955

rs_142454880

4 SubmittersRCV000399908 RCV001088720 RCV003957452

NM_032382.5(COG8):c.1006C>T (p.Arg336Trp)

SNV
Germline

Chr16:69334928

Conflicting classifications of pathogenicity

Condition: not provided
COG8-congenital disorder of glycosylation
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8133807

rs_757877420

4 SubmittersRCV000334221 RCV000381358 RCV002519235

NM_002633.3(PGM1):c.1600-3C>T

SNV
Germline

Chr1:63659583

Conflicting classifications of pathogenicity

Condition: not provided
not specified
PGM1-congenital disorder of glycosylation

Criteria Provided
Conflicting Classifications

CA889930

rs_375450688

4 SubmittersRCV000341788 RCV001820843 RCV002518157

NM_005216.4(DDOST):c.16T>G (p.Cys6Gly)

SNV
Germline

Chr1:20661386

Conflicting classifications of pathogenicity

Congenital disorder of glycosylation type Ir
not specified

Criteria Provided
Conflicting Classifications

rs_149951380

2 SubmittersRCV003074705 RCV004071690

NM_002633.3(PGM1):c.1144+10A>G

SNV
Germline

Chr1:63638810

Conflicting classifications of pathogenicity

Congenital disorder of glycosylation
PGM1-congenital disorder of glycosylation
not specified

Criteria Provided
Conflicting Classifications

CA10610247

rs_886046482

3 SubmittersRCV000342378 RCV000402379 RCV000606435

NM_002633.3(PGM1):c.900T>C (p.His300=)

SNV
Germline

Chr1:63636260

Conflicting classifications of pathogenicity

Congenital disorder of glycosylation
PGM1-congenital disorder of glycosylation
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA889660

rs_145807501

4 SubmittersRCV000319337 RCV000373876 RCV000445024 RCV003884452

NM_002633.3(PGM1):c.420A>G (p.Pro140=)

SNV
Germline

Chr1:63629952

Conflicting classifications of pathogenicity

PGM1-congenital disorder of glycosylation
Congenital disorder of glycosylation
not specified

Criteria Provided
Conflicting Classifications

CA889543

rs_141007881

3 SubmittersRCV000310353 RCV000398517 RCV000438626

NM_002633.3(PGM1):c.1400C>A (p.Thr467Asn)

SNV
Germline

Chr1:63651788

Conflicting classifications of pathogenicity

Congenital disorder of glycosylation
PGM1-congenital disorder of glycosylation
PGM1-related disorder

Criteria Provided
Conflicting Classifications

CA889820

rs_150266274

3 SubmittersRCV000284167 RCV000383241 RCV004537682

NM_002633.3(PGM1):c.1028+11C>A

SNV
Germline

Chr1:63636399

Conflicting classifications of pathogenicity

PGM1-congenital disorder of glycosylation
Congenital disorder of glycosylation
not specified

Criteria Provided
Conflicting Classifications

CA889687

rs_541069522

3 SubmittersRCV000294565 RCV000388782 RCV000425152

NM_005787.6(ALG3):c.777C>T (p.Ser259=)

SNV
Germline

Chr3:184243946

Conflicting classifications of pathogenicity

ALG3-congenital disorder of glycosylation
not specified

Criteria Provided
Conflicting Classifications

CA2729420

rs_142901178

3 SubmittersRCV000344357 RCV000606742

NM_005787.6(ALG3):c.1084G>A (p.Val362Ile)

SNV
Germline

Chr3:184242883

Conflicting classifications of pathogenicity

Condition: not provided
ALG3-congenital disorder of glycosylation

Criteria Provided
Conflicting Classifications

CA2729324

rs_186946267

6 SubmittersRCV000514292 RCV001087479

NM_005787.6(ALG3):c.477C>T (p.Cys159=)

SNV
Germline

Chr3:184245326

Conflicting classifications of pathogenicity

Congenital disorder of glycosylation
Condition: not provided
ALG3-congenital disorder of glycosylation

Criteria Provided
Conflicting Classifications

CA2729524

rs_201087932

3 SubmittersRCV000392229 RCV000840746 RCV002061231

NM_005787.6(ALG3):c.222C>T (p.Tyr74=)

SNV
Germline

Chr3:184245787

Conflicting classifications of pathogenicity

not specified
ALG3-congenital disorder of glycosylation
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2729611

rs_200875721

4 SubmittersRCV000433733 RCV000872805 RCV003437091

NM_005787.6(ALG3):c.933-4C>T

SNV
Germline

Chr3:184243634

Conflicting classifications of pathogenicity

not specified
ALG3-congenital disorder of glycosylation
ALG3-related disorder

Criteria Provided
Conflicting Classifications

CA2729374

rs_190571910

4 SubmittersRCV000600812 RCV000960246 RCV003910352

NM_005787.6(ALG3):c.606-8C>T

SNV
Germline

Chr3:184244729

Conflicting classifications of pathogenicity

ALG3-congenital disorder of glycosylation

Criteria Provided
Conflicting Classifications

CA2729466

rs_368253820

2 SubmittersRCV000871461

NM_005787.6(ALG3):c.297-6T>C

SNV
Germline

Chr3:184245621

Conflicting classifications of pathogenicity

ALG3-congenital disorder of glycosylation

Criteria Provided
Conflicting Classifications

CA2729579

rs_371534425

2 SubmittersRCV000360885

NM_005787.6(ALG3):c.845C>T (p.Ala282Val)

SNV
Germline

Chr3:184243878

Conflicting classifications of pathogenicity

Condition: not provided
ALG3-congenital disorder of glycosylation
ALG3-related disorder

Criteria Provided
Conflicting Classifications

CA2729408

rs_2233466

4 SubmittersRCV000513893 RCV001083072 RCV003969992

NM_005787.6(ALG3):c.51A>G (p.Ala17=)

SNV
Germline

Chr3:184248890

Conflicting classifications of pathogenicity

ALG3-congenital disorder of glycosylation
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2729664

rs_763727038

3 SubmittersRCV000305062 RCV000872223

NM_024592.5(SRD5A3):c.110C>T (p.Pro37Leu)

SNV
Germline

Chr4:55346446

Conflicting classifications of pathogenicity

SRD5A3-congenital disorder of glycosylation
Condition: not provided
SRD5A3-related disorder

Criteria Provided
Conflicting Classifications

CA2925208

rs_199975696

4 SubmittersRCV000892061 RCV001556869 RCV003972471

NM_006765.4(TUSC3):c.768T>C (p.Tyr256=)

SNV
Germline

Chr8:15673806

Conflicting classifications of pathogenicity

Congenital disorder of glycosylation
Intellectual disability, autosomal recessive 7
not specified
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4640551

rs_149033081

4 SubmittersRCV000310777 RCV000910759 RCV001821102 RCV002317859

NM_006765.4(TUSC3):c.*1665T>C

SNV
Germline

Chr8:15765821

Conflicting classifications of pathogenicity

Congenital disorder of glycosylation
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10625063

rs_562496423

2 SubmittersRCV000260887 RCV003437136

NM_001382.4(DPAGT1):c.1221T>C (p.Asp407=)

SNV
Germline

Chr11:119097004

Conflicting classifications of pathogenicity

DPAGT1-congenital disorder of glycosylation
DPAGT1-congenital disorder of glycosylation
Congenital myasthenic syndrome 13

Criteria Provided
Conflicting Classifications

CA6314416

rs_772133269

2 SubmittersRCV000297364 RCV001417521

NM_001382.4(DPAGT1):c.717C>T (p.Leu239=)

SNV
Germline

Chr11:119098414

Conflicting classifications of pathogenicity

DPAGT1-congenital disorder of glycosylation
Congenital myasthenic syndrome 13
DPAGT1-congenital disorder of glycosylation
Condition: not provided
DPAGT1-related disorder

Criteria Provided
Conflicting Classifications

CA6314562

rs_377263230

4 SubmittersRCV000305475 RCV000877368 RCV003422230 RCV003967867

NM_001382.4(DPAGT1):c.96C>T (p.Phe32=)

SNV
Germline

Chr11:119101560

Conflicting classifications of pathogenicity

DPAGT1-congenital disorder of glycosylation
DPAGT1-congenital disorder of glycosylation
Congenital myasthenic syndrome 13

Criteria Provided
Conflicting Classifications

CA6314727

rs_779048359

2 SubmittersRCV000381452 RCV001452965

NM_001382.3(DPAGT1):c.-349T>C

SNV
Germline

Chr11:119102004

Conflicting classifications of pathogenicity

Congenital disorder of glycosylation
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10629945

rs_141116509

2 SubmittersRCV000350240 RCV001556680

NM_006765.4(TUSC3):c.*1531A>G

SNV
Germline

Chr8:15765687

Conflicting classifications of pathogenicity

Congenital disorder of glycosylation
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10630520

rs_190430215

2 SubmittersRCV000353501 RCV002275016

NM_024079.5(ALG8):c.1460A>G (p.Tyr487Cys)

SNV
Germline

Chr11:78101085

Conflicting classifications of pathogenicity

ALG8 congenital disorder of glycosylation
Polycystic liver disease 3 with or without kidney cysts
ALG8 congenital disorder of glycosylation

Criteria Provided
Conflicting Classifications

CA6203119

rs_777557874

3 SubmittersRCV000285593 RCV002494955

NM_024079.5(ALG8):c.251A>G (p.Tyr84Cys)

SNV
Germline

Chr11:78124138

Conflicting classifications of pathogenicity

ALG8 congenital disorder of glycosylation
Condition: not provided
ALG8-related disorder

Criteria Provided
Conflicting Classifications

CA6203545

rs_61995921

6 SubmittersRCV000660405 RCV003137913 RCV004544523

NM_012463.4(ATP6V0A2):c.264G>A (p.Ala88=)

SNV
Germline

Chr12:123722418

Conflicting classifications of pathogenicity

Cutis laxa with osteodystrophy
Condition: not provided
ALG9 congenital disorder of glycosylation
ATP6V0A2-related disorder

Criteria Provided
Conflicting Classifications

CA6861539

rs_139785866

4 SubmittersRCV000394202 RCV000884990 RCV002056276 RCV003967885

NM_024740.2(ALG9):c.*1680G>T

SNV
Germline

Chr11:111784717

Conflicting classifications of pathogenicity

ALG9 congenital disorder of glycosylation
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10633429

rs_563719515

2 SubmittersRCV000330109 RCV003391065

NM_024079.5(ALG8):c.441A>T (p.Val147=)

SNV
Germline

Chr11:78121102

Conflicting classifications of pathogenicity

ALG8 congenital disorder of glycosylation
ALG8-related disorder

Criteria Provided
Conflicting Classifications

CA6203482

rs_112109685

3 SubmittersRCV000974741 RCV004544522

NM_024079.5(ALG8):c.32G>C (p.Gly11Ala)

SNV
Germline

Chr11:78139557

Conflicting classifications of pathogenicity

Congenital disorder of glycosylation
ALG8 congenital disorder of glycosylation

Criteria Provided
Conflicting Classifications

CA6203607

rs_538716086

2 SubmittersRCV000283611 RCV002522212

NM_012463.4(ATP6V0A2):c.993C>T (p.Pro331=)

SNV
Germline

Chr12:123737226

Conflicting classifications of pathogenicity

Cutis laxa with osteodystrophy
Condition: not provided
ALG9 congenital disorder of glycosylation
ATP6V0A2-related disorder

Criteria Provided
Conflicting Classifications

CA6861784

rs_367873118

5 SubmittersRCV000328554 RCV001697658 RCV002520795 RCV003897705

NM_012463.4(ATP6V0A2):c.2014T>C (p.Leu672=)

SNV
Germline

Chr12:123751188

Conflicting classifications of pathogenicity

Cutis laxa with osteodystrophy
ALG9 congenital disorder of glycosylation
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6862089

rs_367950442

3 SubmittersRCV000401678 RCV000865321 RCV001718625

NM_001164277.2(SLC37A4):c.492C>T (p.Ser164=)

SNV
Germline

Chr11:119027762

Conflicting classifications of pathogenicity

Glycogen storage disease, type I
Glucose-6-phosphate transport defect
not specified
Phosphate transport defect
Glucose-6-phosphate transport defect
Congenital disorder of glycosylation, type IIw
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6311827

rs_369399624

5 SubmittersRCV000392366 RCV000936549 RCV001280604 RCV003224255 RCV004021499

NM_001382.4(DPAGT1):c.918-4G>A

SNV
Germline

Chr11:119097555

Conflicting classifications of pathogenicity

DPAGT1-congenital disorder of glycosylation
Congenital myasthenic syndrome 13
DPAGT1-congenital disorder of glycosylation
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6314492

rs_201656540

4 SubmittersRCV000266803 RCV000650503 RCV001705452

NM_001382.4(DPAGT1):c.283-9C>T

SNV
Germline

Chr11:119100852

Conflicting classifications of pathogenicity

DPAGT1-congenital disorder of glycosylation
DPAGT1-congenital disorder of glycosylation
Congenital myasthenic syndrome 13

Criteria Provided
Conflicting Classifications

CA6314662

rs_746355462

2 SubmittersRCV000265560 RCV001495744

NM_153603.4(COG7):c.1410-6G>C

SNV
Germline

Chr16:23410366

Conflicting classifications of pathogenicity

COG7 congenital disorder of glycosylation

Criteria Provided
Conflicting Classifications

CA7960978

rs_369925503

2 SubmittersRCV000395657

NM_032382.5(COG8):c.903C>G (p.Pro301=)

SNV
Germline

Chr16:69335031

Conflicting classifications of pathogenicity

not specified
COG8-congenital disorder of glycosylation

Criteria Provided
Conflicting Classifications

CA8133836

rs_140736262

3 SubmittersRCV000434488 RCV000873067

NM_024079.5(ALG8):c.1211C>T (p.Ser404Leu)

SNV
Germline

Chr11:78104421

Conflicting classifications of pathogenicity

Condition: not provided
ALG8 congenital disorder of glycosylation

Criteria Provided
Conflicting Classifications

CA6203184

rs_146603801

5 SubmittersRCV000734273 RCV001078924

NM_002408.4(MGAT2):c.63C>T (p.Gly21=)

SNV
Germline

Chr14:49621331

Conflicting classifications of pathogenicity

not specified
MGAT2-congenital disorder of glycosylation
MGAT2-related disorder

Criteria Provided
Conflicting Classifications

CA7172457

rs_146729850

4 SubmittersRCV000426874 RCV000872103 RCV003930338

NM_002408.4(MGAT2):c.1233A>T (p.Leu411=)

SNV
Germline

Chr14:49622501

Conflicting classifications of pathogenicity

Congenital disorder of glycosylation
not specified
MGAT2-congenital disorder of glycosylation

Criteria Provided
Conflicting Classifications

CA7172653

rs_563513161

3 SubmittersRCV000406511 RCV000607723 RCV001111658

NM_024079.5(ALG8):c.984C>A (p.Val328=)

SNV
Germline

Chr11:78109496

Conflicting classifications of pathogenicity

ALG8 congenital disorder of glycosylation

Criteria Provided
Conflicting Classifications

CA6203257

rs_757467776

2 SubmittersRCV000391943

NM_024079.5(ALG8):c.675T>C (p.Asp225=)

SNV
Germline

Chr11:78113988

Conflicting classifications of pathogenicity

ALG8 congenital disorder of glycosylation
ALG8-related disorder

Criteria Provided
Conflicting Classifications

CA6203372

rs_139106381

3 SubmittersRCV000870878 RCV004537726

NM_004870.4(MPDU1):c.43C>T (p.Pro15Ser)

SNV
Germline

Chr17:7583905

Conflicting classifications of pathogenicity

Condition: not provided
MPDU1-congenital disorder of glycosylation
not specified

Criteria Provided
Conflicting Classifications

CA8352805

rs_148935720

5 SubmittersRCV000444051 RCV001089405 RCV003488544

NM_004870.4(MPDU1):c.393C>T (p.Val131=)

SNV
Germline

Chr17:7586903

Conflicting classifications of pathogenicity

MPDU1-congenital disorder of glycosylation
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8352939

rs_79286384

4 SubmittersRCV000875766 RCV001718681

NM_012463.4(ATP6V0A2):c.312C>T (p.Leu104=)

SNV
Germline

Chr12:123724671

Conflicting classifications of pathogenicity

Cutis laxa with osteodystrophy
Condition: not provided
ALG9 congenital disorder of glycosylation

Criteria Provided
Conflicting Classifications

CA6861576

rs_563333869

3 SubmittersRCV000338336 RCV000910841 RCV002056277

NM_012463.4(ATP6V0A2):c.614C>T (p.Ala205Val)

SNV
Germline

Chr12:123727875

Conflicting classifications of pathogenicity

Cutis laxa with osteodystrophy
not specified
ALG9 congenital disorder of glycosylation
Cutis laxa with osteodystrophy
Wrinkly skin syndrome
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6861676

rs_143802431

6 SubmittersRCV000310903 RCV000493630 RCV000872211 RCV000763803 RCV001705460 RCV004021535

NM_153603.4(COG7):c.2052G>A (p.Ser684=)

SNV
Germline

Chr16:23392474

Conflicting classifications of pathogenicity

not specified
COG7 congenital disorder of glycosylation
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7960800

rs_142744907

4 SubmittersRCV000419953 RCV000871112 RCV001531847

NM_153603.4(COG7):c.1971C>T (p.His657=)

SNV
Germline

Chr16:23393264

Conflicting classifications of pathogenicity

COG7 congenital disorder of glycosylation
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7960825

rs_114458562

3 SubmittersRCV000375817 RCV000864316

NM_153603.4(COG7):c.1455C>T (p.Phe485=)

SNV
Germline

Chr16:23410315

Conflicting classifications of pathogenicity

not specified
COG7 congenital disorder of glycosylation
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7960972

rs_116153163

4 SubmittersRCV000615369 RCV000870600 RCV003417995

NM_153603.4(COG7):c.1178A>G (p.His393Arg)

SNV
Germline

Chr16:23417081

Conflicting classifications of pathogenicity

Condition: not provided
COG7 congenital disorder of glycosylation
COG7-related disorder

Criteria Provided
Conflicting Classifications

CA7961056

rs_116331296

6 SubmittersRCV000827212 RCV001081679 RCV003940247

NM_153603.4(COG7):c.963C>T (p.Thr321=)

SNV
Germline

Chr16:23424795

Conflicting classifications of pathogenicity

COG7 congenital disorder of glycosylation

Criteria Provided
Conflicting Classifications

CA7961128

rs_762510375

2 SubmittersRCV000296980

NM_002408.4(MGAT2):c.-443C>T

SNV
Germline

Chr14:49620826

Conflicting classifications of pathogenicity

Congenital disorder of glycosylation
MGAT2-congenital disorder of glycosylation
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10645393

rs_3007037

2 SubmittersRCV000267925 RCV001109234 RCV001571379

NM_002408.4(MGAT2):c.*366C>G

SNV
Germline

Chr14:49622978

Conflicting classifications of pathogenicity

Congenital disorder of glycosylation
MGAT2-congenital disorder of glycosylation

Criteria Provided
Conflicting Classifications

CA10645404

rs_1011373

1 SubmittersRCV000273304 RCV001112128

NM_153603.4(COG7):c.900C>T (p.Asn300=)

SNV
Germline

Chr16:23424858

Conflicting classifications of pathogenicity

COG7 congenital disorder of glycosylation
not specified

Criteria Provided
Conflicting Classifications

CA7961147

rs_112611398

3 SubmittersRCV000354322 RCV000418172

NM_032382.5(COG8):c.1692C>T (p.Thr564=)

SNV
Germline

Chr16:69330986

Conflicting classifications of pathogenicity

COG8-congenital disorder of glycosylation
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8133616

rs_199504043

2 SubmittersRCV000266185 RCV000957482

NM_032382.5(COG8):c.249C>G (p.Ala83=)

SNV
Germline

Chr16:69339304

Conflicting classifications of pathogenicity

COG8-congenital disorder of glycosylation

Criteria Provided
Conflicting Classifications

CA8134030

rs_144030835

2 SubmittersRCV000874931

NM_153603.4(COG7):c.1890C>A (p.Ile630=)

SNV
Germline

Chr16:23393345

Conflicting classifications of pathogenicity

COG7 congenital disorder of glycosylation
not specified

Criteria Provided
Conflicting Classifications

CA10648122

rs_199904223

3 SubmittersRCV000278924 RCV000600190

NM_153603.4(COG7):c.1804-13G>A

SNV
Germline

Chr16:23398142

Conflicting classifications of pathogenicity

COG7 congenital disorder of glycosylation

Criteria Provided
Conflicting Classifications

CA7960869

rs_759680428

2 SubmittersRCV000296660

NM_153603.4(COG7):c.1137+11A>C

SNV
Germline

Chr16:23418689

Conflicting classifications of pathogenicity

COG7 congenital disorder of glycosylation
not specified

Criteria Provided
Conflicting Classifications

CA7961076

rs_74012174

3 SubmittersRCV000359547 RCV000616074

NM_153603.4(COG7):c.1005C>T (p.His335=)

SNV
Germline

Chr16:23424753

Conflicting classifications of pathogenicity

COG7 congenital disorder of glycosylation

Criteria Provided
Conflicting Classifications

CA7961113

rs_532636981

2 SubmittersRCV000262945

NM_153603.4(COG7):c.406G>A (p.Ala136Thr)

SNV
Germline

Chr16:23445077

Conflicting classifications of pathogenicity

Condition: not provided
COG7 congenital disorder of glycosylation
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7961315

rs_149163316

4 SubmittersRCV000514059 RCV001080981 RCV002520999

NM_153603.4(COG7):c.170-4A>G

SNV
Germline

Chr16:23445965

Conflicting classifications of pathogenicity

COG7 congenital disorder of glycosylation
COG7-related disorder

Criteria Provided
Conflicting Classifications

CA7961366

rs_544015151

3 SubmittersRCV000286753 RCV003940248

NM_153603.4(COG7):c.75C>G (p.Ser25=)

SNV
Germline

Chr16:23452920

Conflicting classifications of pathogenicity

not specified
COG7 congenital disorder of glycosylation

Criteria Provided
Conflicting Classifications

CA7961427

rs_149481813

3 SubmittersRCV000430425 RCV000951222

NM_032382.5(COG8):c.1620A>C (p.Leu540=)

SNV
Germline

Chr16:69331058

Conflicting classifications of pathogenicity

Congenital disorder of glycosylation
COG8-congenital disorder of glycosylation
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8133638

rs_189199610

3 SubmittersRCV000321381 RCV000875958 RCV001712107

NM_032382.5(COG8):c.585+8C>T

SNV
Germline

Chr16:69336497

Conflicting classifications of pathogenicity

COG8-congenital disorder of glycosylation
not specified

Criteria Provided
Conflicting Classifications

CA8133925

rs_562484375

2 SubmittersRCV000398625 RCV000608305

NM_004870.4(MPDU1):c.121C>G (p.Leu41Val)

SNV
Germline

Chr17:7585749

Conflicting classifications of pathogenicity

MPDU1-congenital disorder of glycosylation

Criteria Provided
Conflicting Classifications

CA8352843

rs_199498675

2 SubmittersRCV000276318

NM_004870.4(MPDU1):c.411C>T (p.Tyr137=)

SNV
Germline

Chr17:7586921

Conflicting classifications of pathogenicity

MPDU1-congenital disorder of glycosylation
not specified
MPDU1-related disorder

Criteria Provided
Conflicting Classifications

CA8352946

rs_142551371

4 SubmittersRCV000275496 RCV000418074 RCV003922383

NM_004870.3(MPDU1):c.-36C>T

SNV
Germline

Chr17:7583827

Conflicting classifications of pathogenicity

Congenital disorder of glycosylation
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8352786

rs_370389790

3 SubmittersRCV000297670 RCV000419122 RCV000767322

NM_003859.3(DPM1):c.759A>G (p.Leu253=)

SNV
Germline

Chr20:50935156

Conflicting classifications of pathogenicity

Congenital disorder of glycosylation type 1E
DPM1-related disorder

Criteria Provided
Conflicting Classifications

CA9908991

rs_769964944

3 SubmittersRCV000293892 RCV003969975

NM_003859.3(DPM1):c.295+8G>A

SNV
Germline

Chr20:50948621

Conflicting classifications of pathogenicity

Congenital disorder of glycosylation type 1E

Criteria Provided
Conflicting Classifications

CA10653228

rs_758553918

2 SubmittersRCV000882123

NM_003859.3(DPM1):c.161+10C>T

SNV
Germline

Chr20:50958353

Conflicting classifications of pathogenicity

not specified
Congenital disorder of glycosylation type 1E

Criteria Provided
Conflicting Classifications

CA9909225

rs_779869066

3 SubmittersRCV000436227 RCV000402745

NM_003859.3(DPM1):c.84G>A (p.Ser28=)

SNV
Germline

Chr20:50958440

Conflicting classifications of pathogenicity

Congenital disorder of glycosylation type 1E

Criteria Provided
Conflicting Classifications

CA9909242

rs_16995639

2 SubmittersRCV000544287

NM_003859.3(DPM1):c.40C>T (p.Arg14Trp)

SNV
Germline

Chr20:50958484

Conflicting classifications of pathogenicity

Congenital disorder of glycosylation type 1E
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA9909261

rs_117175017

5 SubmittersRCV000398073 RCV000553888 RCV000494117

NM_024740.2(ALG9):c.1659C>T (p.Pro553=)

SNV
Germline

Chr11:111809717

Conflicting classifications of pathogenicity

Condition: not provided
not specified
ALG9 congenital disorder of glycosylation

Criteria Provided
Conflicting Classifications

CA6274362

rs_2276263

3 SubmittersRCV000416091 RCV000602616 RCV001085276

NM_001382.4(DPAGT1):c.573C>T (p.Asn191=)

SNV
Germline

Chr11:119100332

Conflicting classifications of pathogenicity

DPAGT1-congenital disorder of glycosylation
Congenital myasthenic syndrome 13
DPAGT1-congenital disorder of glycosylation
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6314600

rs_62641715

3 SubmittersRCV000872957 RCV001108107 RCV001698170

NM_033087.4(ALG2):c.475A>G (p.Ile159Val)

SNV
Germline

Chr9:99218710

Conflicting classifications of pathogenicity

ALG2-congenital disorder of glycosylation
Congenital myasthenic syndrome 14
Condition: not provided
See cases
ALG2-related disorder

Criteria Provided
Conflicting Classifications

CA5156309

rs_146770430

7 SubmittersRCV000766035 RCV001572637 RCV002252128 RCV003912763

NM_033087.4(ALG2):c.167C>T (p.Pro56Leu)

SNV
Germline

Chr9:99221728

Conflicting classifications of pathogenicity

not specified
Congenital myasthenic syndrome 14
ALG2-congenital disorder of glycosylation
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5156463

rs_201959100

4 SubmittersRCV000428835 RCV000538249 RCV003480628

NM_012463.4(ATP6V0A2):c.1189+12G>T

SNV
Germline

Chr12:123743947

Conflicting classifications of pathogenicity

not specified
Cutis laxa with osteodystrophy
ALG9 congenital disorder of glycosylation

Criteria Provided
Conflicting Classifications

CA6861863

rs_377235629

3 SubmittersRCV000433780 RCV001113314 RCV002063585

NM_001382.4(DPAGT1):c.729-4A>C

SNV
Germline

Chr11:119098047

Conflicting classifications of pathogenicity

not specified
DPAGT1-congenital disorder of glycosylation
Congenital myasthenic syndrome 13
DPAGT1-congenital disorder of glycosylation
Inborn genetic diseases
DPAGT1-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6314539

rs_199873583

6 SubmittersRCV000440337 RCV000650502 RCV001108106 RCV002521787 RCV003912721 RCV004546495

NM_001382.4(DPAGT1):c.1A>C (p.Met1Leu)

SNV
Germline

Chr11:119101655

Pathogenic/Likely pathogenic

Condition: not provided
Congenital myasthenic syndrome 13
DPAGT1-congenital disorder of glycosylation

Criteria Provided
Multiple Submitters
No Conflicts

CA16606252

rs_1057521151

2 SubmittersRCV000438342 RCV000686050

NM_002408.4(MGAT2):c.1023T>C (p.Tyr341=)

SNV
Germline

Chr14:49622291

Conflicting classifications of pathogenicity

not specified
MGAT2-congenital disorder of glycosylation

Criteria Provided
Conflicting Classifications

CA7172631

rs_111486860

3 SubmittersRCV000442827 RCV001111657

NM_024740.2(ALG9):c.1383C>T (p.Thr461=)

SNV
Germline

Chr11:111837557

Conflicting classifications of pathogenicity

not specified
Condition: not provided
ALG9 congenital disorder of glycosylation
ALG9-related disorder

Criteria Provided
Conflicting Classifications

CA6274434

rs_45516107

7 SubmittersRCV000430170 RCV000513785 RCV001083045 RCV003912644

NM_001382.4(DPAGT1):c.243C>T (p.Cys81=)

SNV
Germline

Chr11:119101057

Conflicting classifications of pathogenicity

not specified
Congenital myasthenic syndrome 13
DPAGT1-congenital disorder of glycosylation
DPAGT1-congenital disorder of glycosylation
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6314687

rs_138519099

4 SubmittersRCV000434908 RCV000650501 RCV001102884 RCV001288945

NM_153603.4(COG7):c.2013G>A (p.Leu671=)

SNV
Germline

Chr16:23392513

Conflicting classifications of pathogenicity

not specified
Condition: not provided
COG7 congenital disorder of glycosylation

Criteria Provided
Conflicting Classifications

CA7960804

rs_370447404

4 SubmittersRCV000425895 RCV000726767 RCV001087142

NM_012463.4(ATP6V0A2):c.422G>T (p.Arg141Leu)

SNV
Germline

Chr12:123724781

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cutis laxa with osteodystrophy
Wrinkly skin syndrome
Cutis laxa with osteodystrophy
ALG9 congenital disorder of glycosylation

Criteria Provided
Conflicting Classifications

CA6861598

rs_143509747

8 SubmittersRCV000423155 RCV000729905 RCV000763802 RCV001113218 RCV001861625

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_032382.5(COG8):c.996C>T (p.Thr332=)

SNV
Germline

Chr16:69334938

Conflicting classifications of pathogenicity

not specified
COG8-congenital disorder of glycosylation

Criteria Provided
Conflicting Classifications

CA8133813

rs_571595612

3 SubmittersRCV000419551 RCV001118220

NM_032382.5(COG8):c.603G>A (p.Val201=)

SNV
Germline

Chr16:69335331

Conflicting classifications of pathogenicity

not specified
COG8-congenital disorder of glycosylation

Criteria Provided
Conflicting Classifications

CA8133899

rs_141435327

3 SubmittersRCV000436170 RCV000864888

NM_003859.3(DPM1):c.286T>C (p.Leu96=)

SNV
Germline

Chr20:50948638

Conflicting classifications of pathogenicity

not specified
Congenital disorder of glycosylation type 1E
DPM1-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9909163

rs_780244460

5 SubmittersRCV000417491 RCV001137589 RCV003942411 RCV003437192

NM_004870.4(MPDU1):c.618+14C>T

SNV
Germline

Chr17:7587285

Conflicting classifications of pathogenicity

MPDU1-congenital disorder of glycosylation
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8353010

rs_11078699

3 SubmittersRCV001126380 RCV001712275

NM_005660.3(SLC35A2):c.1A>G (p.Met1Val)

SNV
Germline

ChrX:48911636

Pathogenic/Likely pathogenic

Condition: not provided
SLC35A2-congenital disorder of glycosylation

Criteria Provided
Multiple Submitters
No Conflicts

CA16608936

rs_1042469070

2 SubmittersRCV000427117 RCV002286410

NM_005660.3(SLC35A2):c.274+5G>A

SNV
Germline

ChrX:48909809

Conflicting classifications of pathogenicity

SLC35A2-congenital disorder of glycosylation
Condition: not provided

Criteria Provided
Conflicting Classifications

CA16616697

rs_1060503677

3 SubmittersRCV000466018 RCV000578787

NM_007357.3(COG2):c.1900T>G (p.Trp634Gly)

SNV
Germline

Chr1:230690119

Pathogenic

Congenital disorder of glycosylation, type IIq

No Assertion Criteria Provided

CA345198944

rs_1085307117

1 SubmittersRCV000477726

NM_024592.5(SRD5A3):c.436G>A (p.Glu146Lys)

SNV
Germline

Chr4:55364145

Conflicting classifications of pathogenicity

Condition: not provided
SRD5A3-congenital disorder of glycosylation

Criteria Provided
Conflicting Classifications

CA2925293

rs_772795484

2 SubmittersRCV000482809 RCV001851276

NM_012463.4(ATP6V0A2):c.388C>T (p.His130Tyr)

SNV
Germline

Chr12:123724747

Conflicting classifications of pathogenicity

Condition: not provided
ALG9 congenital disorder of glycosylation
ATP6V0A2-related disorder

Criteria Provided
Conflicting Classifications

CA6861590

rs_199801221

3 SubmittersRCV000483300 RCV002526950 RCV003915336

NM_005787.6(ALG3):c.752T>C (p.Leu251Pro)

SNV
Germline

Chr3:184243971

Likely pathogenic

Condition: not provided
ALG3-congenital disorder of glycosylation

Criteria Provided
Single Submitter

CA355419249

rs_1085307980

2 SubmittersRCV000489956 RCV001543413

NM_005787.6(ALG3):c.395A>G (p.Tyr132Cys)

SNV
Germline

Chr3:184245517

Likely pathogenic

Condition: not provided
ALG3-congenital disorder of glycosylation

Criteria Provided
Single Submitter

CA355421661

rs_1085307981

2 SubmittersRCV000489229 RCV001543412

NM_012463.4(ATP6V0A2):c.1069A>T (p.Met357Leu)

SNV
Germline

Chr12:123743815

Conflicting classifications of pathogenicity

Condition: not provided
ALG9 congenital disorder of glycosylation

Criteria Provided
Conflicting Classifications

CA6861832

rs_146967928

2 SubmittersRCV000498620 RCV002056828

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_024740.2(ALG9):c.1251G>A (p.Ser417=)

SNV
Germline

Chr11:111838322

Conflicting classifications of pathogenicity

Condition: not provided
ALG9 congenital disorder of glycosylation
ALG9-related disorder

Criteria Provided
Conflicting Classifications

CA6274470

rs_782372397

3 SubmittersRCV000513620 RCV002527399 RCV003915420

NM_005660.3(SLC35A2):c.1039G>A (p.Ala347Thr)

SNV
Germline

ChrX:48904870

Conflicting classifications of pathogenicity

Condition: not provided
SLC35A2-congenital disorder of glycosylation

Criteria Provided
Conflicting Classifications

CA10406070

rs_781948153

3 SubmittersRCV000513019 RCV001511787

NM_012463.4(ATP6V0A2):c.2384C>T (p.Ala795Val)

SNV
Germline

Chr12:123756905

Conflicting classifications of pathogenicity

not specified
ALG9 congenital disorder of glycosylation
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6862234

rs_139509075

3 SubmittersRCV000518290 RCV000698250 RCV003151782

NM_005660.3(SLC35A2):c.245G>T (p.Cys82Phe)

SNV
Somatic

ChrX:48909843

Likely pathogenic

SLC35A2-congenital disorder of glycosylation

Criteria Provided
Single Submitter

CA412897640

rs_1557043622

1 SubmittersRCV000560194

NM_002633.3(PGM1):c.1014T>A (p.Ser338Arg)

SNV
Germline

Chr1:63636374

Conflicting classifications of pathogenicity

PGM1-congenital disorder of glycosylation
Condition: not provided

Criteria Provided
Conflicting Classifications

CA340636216

rs_1553121290

2 SubmittersRCV000537665 RCV003324765

NM_033087.4(ALG2):c.348+6G>A

SNV
Germline

Chr9:99221541

Conflicting classifications of pathogenicity

ALG2-congenital disorder of glycosylation
Congenital myasthenic syndrome 14
not specified
ALG2-related disorder

Criteria Provided
Conflicting Classifications

CA5156417

rs_368075764

3 SubmittersRCV000529080 RCV003317265 RCV003942791

NM_032382.5(COG8):c.525G>A (p.Leu175=)

SNV
Germline

Chr16:69336565

Conflicting classifications of pathogenicity

Condition: not provided
COG8-congenital disorder of glycosylation

Criteria Provided
Conflicting Classifications

CA8133938

rs_187905134

3 SubmittersRCV000841534 RCV001119763

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_003859.3(DPM1):c.409G>T (p.Glu137Ter)

SNV
Germline

Chr20:50942116

Pathogenic

Congenital disorder of glycosylation type 1E

Criteria Provided
Single Submitter

CA408989429

rs_753780084

1 SubmittersRCV000541426

NM_205861.3(DHDDS):c.192G>A (p.Trp64Ter)

SNV
Germline

Chr1:26442742

Pathogenic

Congenital disorder of glycosylation, type Ibb

No Assertion Criteria Provided

CA339140083

rs_1553121545

1 SubmittersRCV000578125

NM_205861.3(DHDDS):c.441-24A>G

SNV
Germline

Chr1:26447535

Likely pathogenic

Congenital disorder of glycosylation, type Ibb
Retinitis pigmentosa 59

Criteria Provided
Multiple Submitters
No Conflicts

CA705345

rs_764831063

3 SubmittersRCV000578121 RCV001860002

NM_024079.5(ALG8):c.478+1G>A

SNV
Germline

Chr11:78121064

Conflicting classifications of pathogenicity

Condition: not provided
ALG8 congenital disorder of glycosylation

Criteria Provided
Conflicting Classifications

CA6203472

rs_139832787

7 SubmittersRCV000579317 RCV000660438

NM_024079.5(ALG8):c.535C>T (p.Arg179Ter)

SNV
Germline

Chr11:78119193

Pathogenic/Likely pathogenic

Polycystic liver disease 3 with or without kidney cysts
Polycystic liver disease 3 with or without kidney cysts
ALG8 congenital disorder of glycosylation
ALG8-related disorder
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA6203446

rs_762811727

6 SubmittersRCV000584773 RCV002506394 RCV003596048 RCV003480705

NM_004870.4(MPDU1):c.310G>A (p.Gly104Ser)

SNV
Germline

Chr17:7586699

Likely pathogenic

MPDU1-congenital disorder of glycosylation

Criteria Provided
Single Submitter

CA397838747

rs_1555570093

1 SubmittersRCV000590863

NM_004870.4(MPDU1):c.377A>C (p.Gln126Pro)

SNV
Germline

Chr17:7586766

Likely pathogenic

MPDU1-congenital disorder of glycosylation

Criteria Provided
Single Submitter

CA397839094

rs_1555570110

1 SubmittersRCV000590854

NM_153603.4(COG7):c.2208C>T (p.Ile736=)

SNV
Germline

Chr16:23389025

Conflicting classifications of pathogenicity

Condition: not provided
COG7 congenital disorder of glycosylation

Criteria Provided
Conflicting Classifications

CA7960737

rs_762124832

2 SubmittersRCV000591503 RCV002532399

NM_012463.4(ATP6V0A2):c.264G>T (p.Ala88=)

SNV
Germline

Chr12:123722418

Conflicting classifications of pathogenicity

ALG9 congenital disorder of glycosylation
Cutis laxa with osteodystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6861538

rs_139785866

5 SubmittersRCV001085019 RCV001113217 RCV000726817

NM_002633.3(PGM1):c.649C>T (p.Arg217Ter)

SNV
Germline

Chr1:63631749

Pathogenic

PGM1-congenital disorder of glycosylation
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA889590

rs_770066171

2 SubmittersRCV000596556 RCV000727046

NM_005787.6(ALG3):c.444+1G>T

SNV
Germline

Chr3:184245467

Likely pathogenic

Condition: not provided
ALG3-congenital disorder of glycosylation

Criteria Provided
Multiple Submitters
No Conflicts

CA2729545

rs_748878963

2 SubmittersRCV000591836 RCV003497858

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_002633.3(PGM1):c.741G>A (p.Ser247=)

SNV
Germline

Chr1:63634887

Conflicting classifications of pathogenicity

not specified
PGM1-congenital disorder of glycosylation
PGM1-related disorder

Criteria Provided
Conflicting Classifications

CA889623

rs_142222746

5 SubmittersRCV000604207 RCV001101467 RCV004530748

NM_153603.4(COG7):c.1851C>T (p.Pro617=)

SNV
Germline

Chr16:23398082

Conflicting classifications of pathogenicity

not specified
COG7 congenital disorder of glycosylation
COG7-related disorder

Criteria Provided
Conflicting Classifications

CA7960856

rs_748835759

4 SubmittersRCV000612118 RCV001121136 RCV003980177

NM_032382.5(COG8):c.1467C>T (p.Ser489=)

SNV
Germline

Chr16:69332829

Conflicting classifications of pathogenicity

not specified
COG8-congenital disorder of glycosylation
COG8-related disorder

Criteria Provided
Conflicting Classifications

CA8133702

rs_138741747

4 SubmittersRCV000602985 RCV001116768 RCV003945475

NM_153603.4(COG7):c.319-12C>T

SNV
Germline

Chr16:23445176

Conflicting classifications of pathogenicity

not specified
COG7 congenital disorder of glycosylation

Criteria Provided
Conflicting Classifications

CA7961335

rs_201965984

3 SubmittersRCV000614021 RCV001121245

NM_005787.6(ALG3):c.991C>T (p.Gln331Ter)

SNV
Germline

Chr3:184243572

Pathogenic

Inborn genetic diseases
ALG3-congenital disorder of glycosylation

Criteria Provided
Single Submitter

CA355418217

rs_1553827968

2 SubmittersRCV000624784 RCV001543407

NM_001382.4(DPAGT1):c.739C>T (p.Arg247Trp)

SNV
Germline

Chr11:119098033

Conflicting classifications of pathogenicity

Inborn genetic diseases
Congenital disorder of glycosylation
Congenital myasthenic syndrome 13
DPAGT1-congenital disorder of glycosylation
DPAGT1-congenital disorder of glycosylation
Congenital myasthenic syndrome 13

Criteria Provided
Conflicting Classifications

CA6314535

rs_772988029

5 SubmittersRCV000622674 RCV001291167 RCV001340496 RCV001797765 RCV001809704

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_005216.5(DDOST):c.645G>C (p.Gln215His)

SNV
Unknown

Chr1:20654614

Likely pathogenic

Congenital disorder of glycosylation type Ir

Criteria Provided
Single Submitter

CA338851272

rs_867045420

1 SubmittersRCV000626165

NM_001382.4(DPAGT1):c.330C>T (p.Phe110=)

SNV
Germline

Chr11:119100796

Conflicting classifications of pathogenicity

Congenital myasthenic syndrome 13
DPAGT1-congenital disorder of glycosylation
DPAGT1-congenital disorder of glycosylation
DPAGT1-related disorder

Criteria Provided
Conflicting Classifications

CA6314657

rs_199994118

3 SubmittersRCV000650500 RCV001108109 RCV003965388

NM_001371533.1(FUT8):c.715C>T (p.Arg239Ter)

SNV
Germline

Chr14:65669360

Pathogenic

Congenital disorder of glycosylation with defective fucosylation 1
Condition: not provided
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

rs_1460811017

3 SubmittersRCV000656448 RCV000760559 RCV001266091

NM_001371533.1(FUT8):c.1009C>G (p.Arg337Gly)

SNV
Germline

Chr14:65721948

Pathogenic

Congenital disorder of glycosylation with defective fucosylation 1

No Assertion Criteria Provided

rs_1297536872

1 SubmittersRCV000656449

NM_001371533.1(FUT8):c.1259+5G>T

SNV
Germline

Chr14:65724328

Pathogenic

Congenital disorder of glycosylation with defective fucosylation 1

No Assertion Criteria Provided

rs_1555388034

1 SubmittersRCV000656450

NM_001371533.1(FUT8):c.943C>T (p.Arg315Ter)

SNV
Germline

Chr14:65721882

Pathogenic

Congenital disorder of glycosylation with defective fucosylation 1

No Assertion Criteria Provided

rs_1334593208

1 SubmittersRCV000656451

NM_001382.4(DPAGT1):c.250A>C (p.Lys84Gln)

SNV
Germline

Chr11:119101050

Conflicting classifications of pathogenicity

DPAGT1-congenital disorder of glycosylation
Congenital myasthenic syndrome 13
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_112355069

3 SubmittersRCV000660514 RCV002530576

NM_005787.6(ALG3):c.1024C>A (p.Leu342Ile)

SNV
Germline

Chr3:184242943

Conflicting classifications of pathogenicity

ALG3-congenital disorder of glycosylation

Criteria Provided
Conflicting Classifications

rs_568371168

2 SubmittersRCV000662048

NM_153603.4(COG7):c.1476-1G>T

SNV
Germline

Chr16:23406263

Pathogenic

COG7 congenital disorder of glycosylation

Criteria Provided
Single Submitter

rs_1555493029

1 SubmittersRCV000662352

NM_153603.4(COG7):c.2T>C (p.Met1Thr)

SNV
Germline

Chr16:23452993

Likely pathogenic

COG7 congenital disorder of glycosylation

Criteria Provided
Single Submitter

rs_1555497604

1 SubmittersRCV000662353

NM_002633.3(PGM1):c.572C>T (p.Ser191Leu)

SNV
Germline

Chr1:63631672

Conflicting classifications of pathogenicity

Condition: not provided
PGM1-congenital disorder of glycosylation
Inborn genetic diseases
PGM1-related disorder

Criteria Provided
Conflicting Classifications

rs_147971989

6 SubmittersRCV000675301 RCV001371108 RCV002531370 RCV004544935

NM_007357.3(COG2):c.2026G>A (p.Ala676Thr)

SNV
Germline

Chr1:230691475

Conflicting classifications of pathogenicity

Congenital disorder of glycosylation, type IIq
not specified

Criteria Provided
Conflicting Classifications

rs_149248784

2 SubmittersRCV000703358 RCV004026627

NM_138459.5(NUS1):c.506C>G (p.Pro169Arg)

SNV
Germline

Chr6:117693132

Conflicting classifications of pathogenicity

Congenital disorder of glycosylation, type IAA
Intellectual disability, autosomal dominant 55, with seizures
Condition: not provided
NUS1-related disorder

Criteria Provided
Conflicting Classifications

rs_150646335

4 SubmittersRCV000689957 RCV001335392 RCV003334020 RCV003938040

NM_001382.4(DPAGT1):c.361C>T (p.Arg121Cys)

SNV
Germline

Chr11:119100765

Conflicting classifications of pathogenicity

DPAGT1-congenital disorder of glycosylation
Congenital myasthenic syndrome 13
Congenital myasthenic syndrome 13

Criteria Provided
Conflicting Classifications

rs_746187785

2 SubmittersRCV000694309 RCV001729687

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

SNV
Germline

Chr16:5079062

Likely pathogenic

ALG1-congenital disorder of glycosylation

Criteria Provided
Single Submitter

rs_768733117

1 SubmittersRCV000704546

NM_001382.4(DPAGT1):c.360G>C (p.Leu120=)

SNV
Germline

Chr11:119100766

Pathogenic

DPAGT1-congenital disorder of glycosylation
Congenital myasthenic syndrome 13

Criteria Provided
Single Submitter

rs_1555207826

1 SubmittersRCV000685069

NM_002951.5(RPN2):c.188C>T (p.Ala63Val)

SNV
Germline

Chr20:37184354

Conflicting classifications of pathogenicity

Congenital disorder of glycosylation
not specified

Criteria Provided
Conflicting Classifications

rs_144538512

2 SubmittersRCV000694248 RCV004025187

NM_005660.3(SLC35A2):c.523C>T (p.Leu175Phe)

SNV
Germline

ChrX:48905386

Conflicting classifications of pathogenicity

SLC35A2-congenital disorder of glycosylation

Criteria Provided
Conflicting Classifications

rs_1283637638

2 SubmittersRCV000691195

NM_012463.4(ATP6V0A2):c.773A>G (p.Glu258Gly)

SNV
Germline

Chr12:123735572

Conflicting classifications of pathogenicity

Condition: not provided
ALG9 congenital disorder of glycosylation
ATP6V0A2-related disorder

Criteria Provided
Conflicting Classifications

rs_141467923

4 SubmittersRCV000710656 RCV001078886 RCV003965460

NM_012463.4(ATP6V0A2):c.1014G>A (p.Leu338=)

SNV
Germline

Chr12:123737247

Conflicting classifications of pathogenicity

Condition: not provided
ALG9 congenital disorder of glycosylation

Criteria Provided
Conflicting Classifications

rs_917452697

2 SubmittersRCV000710655 RCV003609167

NM_005660.3(SLC35A2):c.233A>G (p.Lys78Arg)

SNV
Germline

ChrX:48909855

Pathogenic

SLC35A2-congenital disorder of glycosylation

No Assertion Criteria Provided

rs_1569511572

1 SubmittersRCV000766228

NM_005660.3(SLC35A2):c.169G>A (p.Ala57Thr)

SNV
Germline

ChrX:48909919

Conflicting classifications of pathogenicity

SLC35A2-congenital disorder of glycosylation
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_151120284

2 SubmittersRCV001056605 RCV002318060

NM_012463.4(ATP6V0A2):c.840C>T (p.Thr280=)

SNV
Germline

Chr12:123737073

Conflicting classifications of pathogenicity

Condition: not provided
ALG9 congenital disorder of glycosylation

Criteria Provided
Conflicting Classifications

rs_139680786

3 SubmittersRCV000728258 RCV001078478

NM_012463.4(ATP6V0A2):c.954C>T (p.Asp318=)

SNV
Germline

Chr12:123737187

Conflicting classifications of pathogenicity

Condition: not provided
Cutis laxa with osteodystrophy
ALG9 congenital disorder of glycosylation

Criteria Provided
Conflicting Classifications

rs_75746974

4 SubmittersRCV000728672 RCV001111307 RCV001412196

NM_001099922.3(ALG13):c.50T>A (p.Ile17Asn)

SNV
Germline

ChrX:111681268

Likely pathogenic

Infantile spasms
Global developmental delay
Osteopenia
Microcephaly
Cerebral visual impairment
Congenital disorder of glycosylation
See cases

Criteria Provided
Single Submitter

rs_1569508922

2 SubmittersRCV000735326 RCV001543373 RCV003156121

NM_005787.6(ALG3):c.1263G>A (p.Trp421Ter)

SNV
Germline

Chr3:184242568

Pathogenic

ALG3-congenital disorder of glycosylation

No Assertion Criteria Provided

rs_1560161567

1 SubmittersRCV000754609

NM_005787.6(ALG3):c.1037A>G (p.Asn346Ser)

SNV
Germline

Chr3:184242930

Pathogenic

ALG3-congenital disorder of glycosylation

Criteria Provided
Single Submitter

rs_1560162116

1 SubmittersRCV000754640

NM_005787.6(ALG3):c.296+4A>G

SNV
Germline

Chr3:184245709

Likely pathogenic

ALG3-congenital disorder of glycosylation

Criteria Provided
Single Submitter

rs_1560164682

1 SubmittersRCV000754641

NM_002408.4(MGAT2):c.1120C>T (p.His374Tyr)

SNV
Germline

Chr14:49622388

Pathogenic

MGAT2-congenital disorder of glycosylation

No Assertion Criteria Provided

rs_776531113

1 SubmittersRCV000754821

NM_002408.4(MGAT2):c.91C>T (p.Gln31Ter)

SNV
Germline

Chr14:49621359

Pathogenic

MGAT2-congenital disorder of glycosylation

No Assertion Criteria Provided

rs_1310787426

1 SubmittersRCV000754823

NM_002408.4(MGAT2):c.799G>C (p.Asp267His)

SNV
Germline

Chr14:49622067

Pathogenic

MGAT2-congenital disorder of glycosylation

No Assertion Criteria Provided

rs_1566505013

1 SubmittersRCV000754824

NM_005787.6(ALG3):c.286G>A (p.Gly96Arg)

SNV
Germline

Chr3:184245723

Likely pathogenic

ALG3-congenital disorder of glycosylation

Criteria Provided
Single Submitter

rs_367679074

2 SubmittersRCV000754835

NM_005787.6(ALG3):c.350G>C (p.Arg117Pro)

SNV
Germline

Chr3:184245562

Pathogenic

ALG3-congenital disorder of glycosylation

Criteria Provided
Single Submitter

rs_370434427

2 SubmittersRCV000754836

NM_145059.3(FCSK):c.2047C>T (p.Arg683Cys)

SNV
Germline

Chr16:70474586

Conflicting classifications of pathogenicity

Congenital disorder of glycosylation with defective fucosylation 2
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_755169246

4 SubmittersRCV000757949 RCV002234120

NM_145059.3(FCSK):c.2980A>C (p.Lys994Gln)

SNV
Germline

Chr16:70479230

Pathogenic

Congenital disorder of glycosylation with defective fucosylation 2

No Assertion Criteria Provided

rs_199515460

1 SubmittersRCV000757950

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

SNV
Germline

Chr16:5077929

Conflicting classifications of pathogenicity

ALG1-congenital disorder of glycosylation

Criteria Provided
Conflicting Classifications

rs_528261173

2 SubmittersRCV000758003

NM_001367916.1(MAGT1):c.972A>C (p.Lys324Asn)

SNV
Germline

ChrX:77830825

Pathogenic

Congenital disorder of glycosylation
Congenital disorder of glycosylation, type ICC

Criteria Provided
Single Submitter

rs_373260156

2 SubmittersRCV000767844 RCV000850166

NM_001367916.1(MAGT1):c.895C>T (p.Arg299Ter)

SNV
Germline

ChrX:77841252

Pathogenic

Congenital disorder of glycosylation
Congenital disorder of glycosylation, type ICC
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia

Criteria Provided
Multiple Submitters
No Conflicts

rs_1569547876

3 SubmittersRCV000767845 RCV000850167 RCV001869056

NM_004870.4(MPDU1):c.619-2A>G

SNV
Germline

Chr17:7587424

Conflicting classifications of pathogenicity

MPDU1-congenital disorder of glycosylation
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_368123972

2 SubmittersRCV000778520 RCV003320741

NM_005787.6(ALG3):c.221A>G (p.Tyr74Cys)

SNV
Germline

Chr3:184245788

Likely pathogenic

ALG3-congenital disorder of glycosylation

Criteria Provided
Single Submitter

rs_1028791709

1 SubmittersRCV000785866

NM_005660.3(SLC35A2):c.485G>A (p.Arg162His)

SNV
Germline

ChrX:48905424

Conflicting classifications of pathogenicity

SLC35A2-congenital disorder of glycosylation

Criteria Provided
Conflicting Classifications

rs_782305321

2 SubmittersRCV000791153

NM_138459.5(NUS1):c.640A>G (p.Lys214Glu)

SNV
Germline

Chr6:117694129

Conflicting classifications of pathogenicity

Congenital disorder of glycosylation, type IAA
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_146171115

2 SubmittersRCV000792334 RCV003311889

NM_001164277.2(SLC37A4):c.1286A>C (p.Glu429Ala)

SNV
Germline

Chr11:119024914

Conflicting classifications of pathogenicity

Glucose-6-phosphate transport defect
not specified
Condition: not provided
Phosphate transport defect
Glucose-6-phosphate transport defect
Congenital disorder of glycosylation, type IIw

Criteria Provided
Conflicting Classifications

rs_149974794

5 SubmittersRCV000807579 RCV002271588 RCV002281135 RCV002507401

NM_001382.4(DPAGT1):c.398C>G (p.Ser133Ter)

SNV
Germline

Chr11:119100728

Pathogenic

DPAGT1-congenital disorder of glycosylation
Congenital myasthenic syndrome 13

Criteria Provided
Single Submitter

rs_1315559074

1 SubmittersRCV000792938

NM_019109.5(ALG1):c.766G>A (p.Glu256Lys)

SNV
Germline

Chr16:5078782

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_147412842

3 SubmittersRCV000792220 RCV003908091 RCV004027412

NM_003859.3(DPM1):c.1A>C (p.Met1Leu)

SNV
Germline

Chr20:50958523

Conflicting classifications of pathogenicity

Congenital disorder of glycosylation type 1E

Criteria Provided
Conflicting Classifications

rs_139624629

3 SubmittersRCV000821507

NM_005660.3(SLC35A2):c.2T>A (p.Met1Lys)

SNV
Germline

ChrX:48911635

Likely pathogenic

SLC35A2-congenital disorder of glycosylation

Criteria Provided
Single Submitter

rs_1602347908

1 SubmittersRCV000823050

NM_153603.4(COG7):c.435+2T>C

SNV
Germline

Chr16:23445046

Conflicting classifications of pathogenicity

COG7 congenital disorder of glycosylation
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_201446992

3 SubmittersRCV000813623 RCV002538169

NM_032382.5(COG8):c.585+1G>T

SNV
Germline

Chr16:69336504

Likely pathogenic

COG8-congenital disorder of glycosylation

Criteria Provided
Single Submitter

rs_1597225261

1 SubmittersRCV000816521

NM_001382.4(DPAGT1):c.643+2T>C

SNV
Germline

Chr11:119100260

Conflicting classifications of pathogenicity

not specified
Congenital myasthenic syndrome 13
DPAGT1-congenital disorder of glycosylation

Criteria Provided
Conflicting Classifications

rs_774754436

2 SubmittersRCV000825916 RCV002538233

NM_012463.4(ATP6V0A2):c.447T>C (p.Tyr149=)

SNV
Germline

Chr12:123726211

Conflicting classifications of pathogenicity

Condition: not provided
Cutis laxa with osteodystrophy
ALG9 congenital disorder of glycosylation

Criteria Provided
Conflicting Classifications

rs_140835376

3 SubmittersRCV000836118 RCV001114576 RCV002068554

NM_005660.3(SLC35A2):c.691G>A (p.Val231Met)

SNV
Germline

ChrX:48905218

Conflicting classifications of pathogenicity

Condition: not provided
SLC35A2-congenital disorder of glycosylation

Criteria Provided
Conflicting Classifications

rs_939923485

2 SubmittersRCV000838714 RCV001858432

NM_153603.4(COG7):c.1476-3C>T

SNV
Germline

Chr16:23406265

Conflicting classifications of pathogenicity

Condition: not provided
COG7 congenital disorder of glycosylation

Criteria Provided
Conflicting Classifications

rs_551490261

2 SubmittersRCV000827179 RCV001858419

NM_004870.4(MPDU1):c.19G>T (p.Gly7Ter)

SNV
Germline

Chr17:7583881

Likely pathogenic

MPDU1-congenital disorder of glycosylation
Inborn genetic diseases

Criteria Provided
Single Submitter

rs_555710402

2 SubmittersRCV000845024 RCV002538341

NM_024592.5(SRD5A3):c.921G>C (p.Pro307=)

SNV
Unknown

Chr4:55370055

Likely pathogenic

Congenital disorder of glycosylation

No Assertion Criteria Provided

rs_763516132

1 SubmittersRCV000851213

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.342G>C (p.Leu114Phe)

SNV
Unknown

Chr16:5073208

Likely pathogenic

Congenital disorder of glycosylation

No Assertion Criteria Provided

rs_1596252196

1 SubmittersRCV000851231

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.626T>G (p.Ile209Ser)

SNV
Unknown

Chr16:5077531

Likely pathogenic

Congenital disorder of glycosylation

No Assertion Criteria Provided

rs_1596256204

1 SubmittersRCV000851236

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.1088G>C (p.Gly363Ala)

SNV
Unknown

Chr16:5082574

Likely pathogenic

Congenital disorder of glycosylation

No Assertion Criteria Provided

rs_1596261161

1 SubmittersRCV000851240

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.1101C>G (p.His367Gln)

SNV
Unknown

Chr16:5082587

Likely pathogenic

Congenital disorder of glycosylation

No Assertion Criteria Provided

rs_1428414601

1 SubmittersRCV000851224

NM_019109.5(ALG1):c.1145T>A (p.Met382Lys)

SNV
Unknown

Chr16:5082631

Likely pathogenic

Congenital disorder of glycosylation

No Assertion Criteria Provided

rs_1596261268

1 SubmittersRCV000851251

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

4 SubmittersRCV000851223 RCV001858477 RCV002538358

NM_019109.5(ALG1):c.209-1G>C

SNV
Unknown

Chr16:5072950

Likely pathogenic

Congenital disorder of glycosylation

No Assertion Criteria Provided

rs_1270276368

1 SubmittersRCV000851239

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_005660.3(SLC35A2):c.828C>T (p.Leu276=)

SNV
Germline

ChrX:48905081

Conflicting classifications of pathogenicity

Condition: not provided
SLC35A2-congenital disorder of glycosylation

Criteria Provided
Conflicting Classifications

rs_782113085

2 SubmittersRCV000861614 RCV001079103

NM_024079.5(ALG8):c.869A>G (p.Asn290Ser)

SNV
Germline

Chr11:78112679

Conflicting classifications of pathogenicity

ALG8 congenital disorder of glycosylation
ALG8-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_61995923

4 SubmittersRCV003605697 RCV004538293 RCV000870666

NM_024079.5(ALG8):c.36T>C (p.Asn12=)

SNV
Germline

Chr11:78139553

Conflicting classifications of pathogenicity

Condition: not provided
ALG8 congenital disorder of glycosylation

Criteria Provided
Conflicting Classifications

rs_1179361051

2 SubmittersRCV000870960 RCV001470527

NM_153603.4(COG7):c.1113C>T (p.Leu371=)

SNV
Germline

Chr16:23418724

Conflicting classifications of pathogenicity

COG7 congenital disorder of glycosylation

Criteria Provided
Conflicting Classifications

rs_114661874

2 SubmittersRCV000864711

NM_024592.5(SRD5A3):c.108G>T (p.Pro36=)

SNV
Germline

Chr4:55346444

Conflicting classifications of pathogenicity

SRD5A3-congenital disorder of glycosylation

Criteria Provided
Conflicting Classifications

rs_200253126

2 SubmittersRCV000872539

NM_024740.2(ALG9):c.1792T>C (p.Tyr598His)

SNV
Germline

Chr11:111786462

Conflicting classifications of pathogenicity

Condition: not provided
ALG9 congenital disorder of glycosylation
ALG9-related disorder

Criteria Provided
Conflicting Classifications

rs_201194863

3 SubmittersRCV000873972 RCV003103876 RCV003908305

NM_024740.2(ALG9):c.1750C>T (p.Arg584Trp)

SNV
Germline

Chr11:111786504

Conflicting classifications of pathogenicity

ALG9 congenital disorder of glycosylation
Inborn genetic diseases
Condition: not provided
ALG9-related disorder

Criteria Provided
Conflicting Classifications

rs_199995104

4 SubmittersRCV000873271 RCV002539166 RCV003153878 RCV003955704

NM_024740.2(ALG9):c.815A>G (p.Tyr272Cys)

SNV
Germline

Chr11:111853460

Conflicting classifications of pathogenicity

ALG9 congenital disorder of glycosylation
not specified
Condition: not provided
ALG9-related disorder

Criteria Provided
Conflicting Classifications

rs_145762575

4 SubmittersRCV000874953 RCV003151168 RCV003480888 RCV003948222

NM_002408.4(MGAT2):c.229C>T (p.Pro77Ser)

SNV
Germline

Chr14:49621497

Conflicting classifications of pathogenicity

MGAT2-congenital disorder of glycosylation
MGAT2-related disorder

Criteria Provided
Conflicting Classifications

rs_145684106

3 SubmittersRCV000872131 RCV003930393

NM_032382.5(COG8):c.386T>C (p.Val129Ala)

SNV
Germline

Chr16:69336704

Conflicting classifications of pathogenicity

Condition: not provided
COG8-congenital disorder of glycosylation
COG8-related disorder

Criteria Provided
Conflicting Classifications

rs_146248068

3 SubmittersRCV000872430 RCV001463910 RCV003948186

NM_153603.4(COG7):c.1972G>A (p.Ala658Thr)

SNV
Germline

Chr16:23393263

Conflicting classifications of pathogenicity

COG7 congenital disorder of glycosylation
COG7-related disorder

Criteria Provided
Conflicting Classifications

rs_115073082

3 SubmittersRCV001119148 RCV003970743

NM_024079.5(ALG8):c.1506C>T (p.Gly502=)

SNV
Germline

Chr11:78101039

Conflicting classifications of pathogenicity

ALG8 congenital disorder of glycosylation
ALG8-related disorder

Criteria Provided
Conflicting Classifications

rs_148820351

3 SubmittersRCV000887812 RCV004530950

NM_005787.6(ALG3):c.606-10C>T

SNV
Germline

Chr3:184244731

Conflicting classifications of pathogenicity

ALG3-congenital disorder of glycosylation

Criteria Provided
Conflicting Classifications

rs_372141050

2 SubmittersRCV001149025

NM_001382.4(DPAGT1):c.351A>G (p.Val117=)

SNV
Germline

Chr11:119100775

Conflicting classifications of pathogenicity

DPAGT1-congenital disorder of glycosylation
Congenital myasthenic syndrome 13
DPAGT1-congenital disorder of glycosylation

Criteria Provided
Conflicting Classifications

rs_146610900

2 SubmittersRCV000910799 RCV001108108

NM_024079.5(ALG8):c.154A>G (p.Ile52Val)

SNV
Germline

Chr11:78127378

Conflicting classifications of pathogenicity

ALG8 congenital disorder of glycosylation
Polycystic liver disease 3 with or without kidney cysts

Criteria Provided
Conflicting Classifications

rs_138293432

3 SubmittersRCV000903204 RCV003332270

NM_153603.4(COG7):c.904G>A (p.Val302Met)

SNV
Germline

Chr16:23424854

Conflicting classifications of pathogenicity

COG7 congenital disorder of glycosylation

Criteria Provided
Conflicting Classifications

rs_116314856

2 SubmittersRCV000898552

NM_002633.3(PGM1):c.442T>G (p.Phe148Val)

SNV
Germline

Chr1:63629974

Conflicting classifications of pathogenicity

PGM1-congenital disorder of glycosylation

Criteria Provided
Conflicting Classifications

rs_755467080

2 SubmittersRCV000916677

NM_024079.5(ALG8):c.588A>G (p.Leu196=)

SNV
Germline

Chr11:78114351

Conflicting classifications of pathogenicity

Condition: not provided
ALG8 congenital disorder of glycosylation

Criteria Provided
Conflicting Classifications

rs_562915665

2 SubmittersRCV000915127 RCV001110704

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

Criteria Provided
Conflicting Classifications

rs_145317306

3 SubmittersRCV000981645 RCV001576674 RCV002550564

NM_002633.3(PGM1):c.1543C>T (p.Arg515Trp)

SNV
Germline

Chr1:63654410

Conflicting classifications of pathogenicity

PGM1-congenital disorder of glycosylation

Criteria Provided
Conflicting Classifications

rs_775651976

4 SubmittersRCV000985040

NM_138459.5(NUS1):c.692-1G>A

SNV
Unknown

Chr6:117703604

Likely pathogenic

Congenital disorder of glycosylation, type IAA

Criteria Provided
Single Submitter

rs_1582477100

1 SubmittersRCV000987765

NM_001382.4(DPAGT1):c.1036C>G (p.His346Asp)

SNV
Unknown

Chr11:119097267

Likely pathogenic

DPAGT1-congenital disorder of glycosylation

Criteria Provided
Single Submitter

rs_1592225374

1 SubmittersRCV000988758

NM_001382.4(DPAGT1):c.574G>C (p.Gly192Arg)

SNV
Unknown

Chr11:119100331

Likely pathogenic

DPAGT1-congenital disorder of glycosylation

Criteria Provided
Single Submitter

rs_768464558

1 SubmittersRCV000988759

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_005660.3(SLC35A2):c.128T>C (p.Leu43Pro)

SNV
Unknown

ChrX:48909960

Likely pathogenic

SLC35A2-congenital disorder of glycosylation

Criteria Provided
Single Submitter

rs_1602344901

1 SubmittersRCV000990816

NM_024592.5(SRD5A3):c.484C>T (p.Gln162Ter)

SNV
Germline

Chr4:55364193

Likely pathogenic

SRD5A3-congenital disorder of glycosylation
Kahrizi syndrome

Criteria Provided
Single Submitter

rs_1578209906

1 SubmittersRCV000991422

NM_005660.3(SLC35A2):c.966A>G (p.Pro322=)

SNV
Germline

ChrX:48904943

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
SLC35A2-congenital disorder of glycosylation

Criteria Provided
Conflicting Classifications

rs_373788556

3 SubmittersRCV000999414 RCV002372724 RCV002068744

NM_005660.3(SLC35A2):c.818G>C (p.Gly273Ala)

SNV
Germline

ChrX:48905091

Conflicting classifications of pathogenicity

Condition: not provided
SLC35A2-congenital disorder of glycosylation

Criteria Provided
Conflicting Classifications

rs_1557042798

3 SubmittersRCV000999415 RCV001049784

NM_005660.3(SLC35A2):c.578G>A (p.Arg193Gln)

SNV
Germline

ChrX:48905331

Conflicting classifications of pathogenicity

Condition: not provided
SLC35A2-congenital disorder of glycosylation

Criteria Provided
Conflicting Classifications

rs_1602338782

2 SubmittersRCV000999416 RCV001037501

NM_005660.3(SLC35A2):c.252G>A (p.Leu84=)

SNV
Germline

ChrX:48909836

Conflicting classifications of pathogenicity

SLC35A2-congenital disorder of glycosylation
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1557043621

2 SubmittersRCV001488643 RCV000999418

NM_005660.3(SLC35A2):c.92-7C>G

SNV
Germline

ChrX:48910003

Conflicting classifications of pathogenicity

SLC35A2-congenital disorder of glycosylation
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1557043678

3 SubmittersRCV001450426 RCV000999419

NM_001382.4(DPAGT1):c.698T>C (p.Phe233Ser)

SNV
Germline

Chr11:119098433

Likely pathogenic

DPAGT1-congenital disorder of glycosylation

Criteria Provided
Single Submitter

rs_1450090350

1 SubmittersRCV000995756

NM_005660.3(SLC35A2):c.515T>C (p.Leu172Pro)

SNV
Unknown

ChrX:48905394

Likely pathogenic

SLC35A2-congenital disorder of glycosylation

Criteria Provided
Single Submitter

1 SubmittersRCV001004665

NM_033087.4(ALG2):c.20G>A (p.Arg7Gln)

SNV
Germline

Chr9:99221875

Conflicting classifications of pathogenicity

Congenital myasthenic syndrome 14
ALG2-congenital disorder of glycosylation
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_776974668

2 SubmittersRCV001062434 RCV003243455

NM_001382.4(DPAGT1):c.574G>A (p.Gly192Ser)

SNV
Germline

Chr11:119100331

Conflicting classifications of pathogenicity

Congenital myasthenic syndrome 13
DPAGT1-congenital disorder of glycosylation
DPAGT1-congenital disorder of glycosylation
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_768464558

3 SubmittersRCV001055724 RCV002472314 RCV003145308

NM_001382.4(DPAGT1):c.88C>T (p.Pro30Ser)

SNV
Germline

Chr11:119101568

Conflicting classifications of pathogenicity

Condition: not provided
DPAGT1-congenital disorder of glycosylation
Congenital myasthenic syndrome 13

Criteria Provided
Conflicting Classifications

rs_1393162163

2 SubmittersRCV001172050 RCV001046862

NM_024079.5(ALG8):c.368+2T>G

SNV
Germline

Chr11:78124019

Likely pathogenic

ALG8 congenital disorder of glycosylation
Polycystic liver disease 3 with or without kidney cysts
ALG8 congenital disorder of glycosylation

Criteria Provided
Multiple Submitters
No Conflicts

rs_756894409

2 SubmittersRCV001070562 RCV002489709

NM_005765.3(ATP6AP2):c.293T>C (p.Leu98Ser)

SNV
Germline

ChrX:40591358

Pathogenic

Congenital disorder of glycosylation, type IIr

No Assertion Criteria Provided

rs_1926621737

1 SubmittersRCV001078440

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_005660.3(SLC35A2):c.844G>A (p.Gly282Arg)

SNV
Germline

ChrX:48905065

Pathogenic/Likely pathogenic

Condition: not provided
SLC35A2-congenital disorder of glycosylation

Criteria Provided
Multiple Submitters
No Conflicts

rs_2063478987

2 SubmittersRCV001091019 RCV002557952

NM_004481.5(GALNT2):c.311T>C (p.Phe104Ser)

SNV
Germline

Chr1:230203227

Likely pathogenic

Congenital disorder of glycosylation, type iit

Criteria Provided
Single Submitter

rs_1663960324

2 SubmittersRCV001095796

NM_004481.5(GALNT2):c.865C>T (p.Gln289Ter)

SNV
Germline

Chr1:230249231

Pathogenic

Congenital disorder of glycosylation, type iit

Criteria Provided
Single Submitter

rs_1665467473

3 SubmittersRCV001095797

NM_004481.5(GALNT2):c.598C>T (p.Arg200Ter)

SNV
Germline

Chr1:230236716

Pathogenic

Congenital disorder of glycosylation, type iit
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1431963909

3 SubmittersRCV001095798 RCV003442203

NM_004481.5(GALNT2):c.629G>C (p.Arg210Pro)

SNV
Germline

Chr1:230243327

Likely pathogenic

Congenital disorder of glycosylation, type iit

Criteria Provided
Single Submitter

rs_376870425

2 SubmittersRCV001095800

NM_002633.3(PGM1):c.327T>C (p.Ile109=)

SNV
Germline

Chr1:63629505

Conflicting classifications of pathogenicity

PGM1-congenital disorder of glycosylation

Criteria Provided
Conflicting Classifications

rs_770271653

2 SubmittersRCV001099465

NM_002633.3(PGM1):c.1065C>A (p.Thr355=)

SNV
Germline

Chr1:63638721

Conflicting classifications of pathogenicity

PGM1-congenital disorder of glycosylation

Criteria Provided
Conflicting Classifications

rs_773677629

2 SubmittersRCV001096005

NM_002633.3(PGM1):c.1029-8C>G

SNV
Germline

Chr1:63638677

Conflicting classifications of pathogenicity

PGM1-congenital disorder of glycosylation

Criteria Provided
Conflicting Classifications

rs_752232600

2 SubmittersRCV001096004

NM_024079.5(ALG8):c.1516G>A (p.Ala506Thr)

SNV
Germline

Chr11:78101029

Conflicting classifications of pathogenicity

ALG8 congenital disorder of glycosylation
ALG8-related disorder

Criteria Provided
Conflicting Classifications

rs_149692072

3 SubmittersRCV001112602 RCV004538335

NM_012463.4(ATP6V0A2):c.1323A>G (p.Gln441=)

SNV
Germline

Chr12:123744334

Conflicting classifications of pathogenicity

Cutis laxa with osteodystrophy
ALG9 congenital disorder of glycosylation

Criteria Provided
Conflicting Classifications

rs_985944979

2 SubmittersRCV001113316 RCV003502588

NM_012463.4(ATP6V0A2):c.1524C>T (p.Val508=)

SNV
Germline

Chr12:123744891

Conflicting classifications of pathogenicity

Cutis laxa with osteodystrophy
Condition: not provided
ALG9 congenital disorder of glycosylation

Criteria Provided
Conflicting Classifications

rs_182439983

3 SubmittersRCV001114686 RCV001561688 RCV002069848

NM_012463.4(ATP6V0A2):c.2439G>A (p.Ala813=)

SNV
Germline

Chr12:123756960

Conflicting classifications of pathogenicity

Cutis laxa with osteodystrophy
ALG9 congenital disorder of glycosylation

Criteria Provided
Conflicting Classifications

rs_200933894

2 SubmittersRCV001111402 RCV003609178

NM_012463.4(ATP6V0A2):c.1515-12T>G

SNV
Germline

Chr12:123744870

Conflicting classifications of pathogenicity

Cutis laxa with osteodystrophy
ALG9 congenital disorder of glycosylation

Criteria Provided
Conflicting Classifications

rs_201512900

2 SubmittersRCV001113319 RCV003502589

NM_153603.4(COG7):c.1629T>C (p.Tyr543=)

SNV
Germline

Chr16:23406109

Conflicting classifications of pathogenicity

COG7 congenital disorder of glycosylation

Criteria Provided
Conflicting Classifications

rs_760342154

2 SubmittersRCV001121138

NM_153603.4(COG7):c.1305T>C (p.Asp435=)

SNV
Germline

Chr16:23413552

Conflicting classifications of pathogenicity

COG7 congenital disorder of glycosylation

Criteria Provided
Conflicting Classifications

rs_1019861391

2 SubmittersRCV001116226

NM_153603.4(COG7):c.1167G>A (p.Gln389=)

SNV
Germline

Chr16:23417092

Conflicting classifications of pathogenicity

COG7 congenital disorder of glycosylation

Criteria Provided
Conflicting Classifications

rs_201313774

2 SubmittersRCV001117667

NM_153603.4(COG7):c.1137+9G>A

SNV
Germline

Chr16:23418691

Conflicting classifications of pathogenicity

COG7 congenital disorder of glycosylation

Criteria Provided
Conflicting Classifications

rs_746762111

2 SubmittersRCV001117668

NM_153603.4(COG7):c.687+14C>T

SNV
Germline

Chr16:23434622

Conflicting classifications of pathogenicity

COG7 congenital disorder of glycosylation

Criteria Provided
Conflicting Classifications

rs_139853094

2 SubmittersRCV001119241

NM_032382.5(COG8):c.1413+12C>G

SNV
Germline

Chr16:69334509

Conflicting classifications of pathogenicity

COG8-congenital disorder of glycosylation

Criteria Provided
Conflicting Classifications

rs_977274573

2 SubmittersRCV001116769

NM_003859.3(DPM1):c.570C>T (p.Tyr190=)

SNV
Germline

Chr20:50936256

Conflicting classifications of pathogenicity

Congenital disorder of glycosylation type 1E

Criteria Provided
Conflicting Classifications

rs_754109868

2 SubmittersRCV001142330

NM_003859.3(DPM1):c.456A>G (p.Gly152=)

SNV
Germline

Chr20:50942069

Conflicting classifications of pathogenicity

Congenital disorder of glycosylation type 1E

Criteria Provided
Conflicting Classifications

rs_370598866

2 SubmittersRCV001142331

NM_003859.3(DPM1):c.295+7C>T

SNV
Germline

Chr20:50948622

Conflicting classifications of pathogenicity

Congenital disorder of glycosylation type 1E

Criteria Provided
Conflicting Classifications

rs_775797102

2 SubmittersRCV001137588

NM_005787.6(ALG3):c.696C>T (p.Leu232=)

SNV
Germline

Chr3:184244631

Conflicting classifications of pathogenicity

ALG3-congenital disorder of glycosylation

Criteria Provided
Conflicting Classifications

rs_1174962210

2 SubmittersRCV001149024

NM_005787.6(ALG3):c.66G>A (p.Lys22=)

SNV
Germline

Chr3:184248875

Conflicting classifications of pathogenicity

ALG3-congenital disorder of glycosylation

Criteria Provided
Conflicting Classifications

rs_778269575

2 SubmittersRCV001144442

NM_024592.5(SRD5A3):c.673G>A (p.Gly225Ser)

SNV
Germline

Chr4:55367698

Conflicting classifications of pathogenicity

SRD5A3-congenital disorder of glycosylation
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_748408459

3 SubmittersRCV001144402 RCV004032734

NM_006765.4(TUSC3):c.408G>A (p.Gly136=)

SNV
Germline

Chr8:15650796

Conflicting classifications of pathogenicity

Congenital disorder of glycosylation
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_762831751

2 SubmittersRCV001158588 RCV001726437

NM_006765.4(TUSC3):c.852T>C (p.Ile284=)

SNV
Germline

Chr8:15730719

Conflicting classifications of pathogenicity

Congenital disorder of glycosylation
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_781741877

2 SubmittersRCV001161812 RCV003438692

NM_006765.4(TUSC3):c.*2397G>A

SNV
Germline

Chr8:15766553

Conflicting classifications of pathogenicity

Congenital disorder of glycosylation
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_141748006

2 SubmittersRCV001163540 RCV003222239

NM_006765.4(TUSC3):c.568-15A>G

SNV
Germline

Chr8:15662141

Conflicting classifications of pathogenicity

Congenital disorder of glycosylation
Intellectual disability, autosomal recessive 7

Criteria Provided
Conflicting Classifications

rs_186717319

2 SubmittersRCV001161809 RCV003619738

NM_024079.5(ALG8):c.1533T>A (p.Tyr511Ter)

SNV
Unknown

Chr11:78101012

Likely pathogenic

ALG8 congenital disorder of glycosylation

Criteria Provided
Single Submitter

rs_1859771094

1 SubmittersRCV001196678

NM_004870.4(MPDU1):c.514C>T (p.Gln172Ter)

SNV
Unknown

Chr17:7587167

Likely pathogenic

MPDU1-congenital disorder of glycosylation

Criteria Provided
Single Submitter

rs_999384296

1 SubmittersRCV001196730

NM_005787.6(ALG3):c.444+2T>G

SNV
Unknown

Chr3:184245466

Likely pathogenic

ALG3-congenital disorder of glycosylation

Criteria Provided
Single Submitter

rs_1719083745

1 SubmittersRCV001196118

NM_032382.5(COG8):c.1583-1G>A

SNV
Germline

Chr16:69331096

Pathogenic

COG8-congenital disorder of glycosylation

No Assertion Criteria Provided

rs_1287837570

1 SubmittersRCV001200906

NM_033087.4(ALG2):c.1226G>A (p.Arg409Gln)

SNV
Germline

Chr9:99217959

Conflicting classifications of pathogenicity

ALG2-congenital disorder of glycosylation
Congenital myasthenic syndrome 14
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_369231996

2 SubmittersRCV001224438 RCV004032510

NM_012463.4(ATP6V0A2):c.1118A>G (p.Asn373Ser)

SNV
Germline

Chr12:123743864

Conflicting classifications of pathogenicity

Condition: not provided
ALG9 congenital disorder of glycosylation

Criteria Provided
Conflicting Classifications

rs_771839087

2 SubmittersRCV001760196 RCV001216411

NM_138459.5(NUS1):c.74G>A (p.Trp25Ter)

SNV
Germline

Chr6:117675744

Pathogenic

Congenital disorder of glycosylation, type IAA

Criteria Provided
Single Submitter

rs_1772963498

1 SubmittersRCV001204153

NM_003859.3(DPM1):c.1A>G (p.Met1Val)

SNV
Germline

Chr20:50958523

Conflicting classifications of pathogenicity

Congenital disorder of glycosylation type 1E
not specified

Criteria Provided
Conflicting Classifications

rs_139624629

3 SubmittersRCV001205494 RCV003235494

NM_005660.3(SLC35A2):c.562G>A (p.Gly188Ser)

SNV
Germline

ChrX:48905347

Conflicting classifications of pathogenicity

SLC35A2-congenital disorder of glycosylation
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1023107993

2 SubmittersRCV001211097 RCV002255177

NM_012463.4(ATP6V0A2):c.1605+1G>A

SNV
Germline

Chr12:123744973

Pathogenic

ALG9 congenital disorder of glycosylation

Criteria Provided
Single Submitter

rs_1956646992

1 SubmittersRCV001242368

NM_002633.3(PGM1):c.1495C>T (p.Arg499Ter)

SNV
Germline

Chr1:63654362

Pathogenic/Likely pathogenic

PGM1-congenital disorder of glycosylation

Criteria Provided
Multiple Submitters
No Conflicts

rs_745993071

3 SubmittersRCV001253738

NM_001371533.1(FUT8):c.12G>A (p.Trp4Ter)

SNV
Germline

Chr14:65561575

Likely pathogenic

Congenital disorder of glycosylation with defective fucosylation 1

No Assertion Criteria Provided

rs_1885915172

1 SubmittersRCV001261986

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_005660.3(SLC35A2):c.696G>A (p.Trp232Ter)

SNV
Germline

ChrX:48905213

Pathogenic

SLC35A2-congenital disorder of glycosylation

Criteria Provided
Single Submitter

rs_868941656

1 SubmittersRCV001265566

NM_002633.3(PGM1):c.878G>A (p.Arg293Gln)

SNV
Germline

Chr1:63636238

Conflicting classifications of pathogenicity

Inborn genetic diseases
PGM1-congenital disorder of glycosylation

Criteria Provided
Conflicting Classifications

rs_1466885233

2 SubmittersRCV001267113 RCV003106171

NM_005787.6(ALG3):c.2T>C (p.Met1Thr)

SNV
Germline

Chr3:184248939

Pathogenic/Likely pathogenic

Condition: not provided
ALG3-congenital disorder of glycosylation

Criteria Provided
Multiple Submitters
No Conflicts

rs_773271124

2 SubmittersRCV001269546 RCV003770408

NM_005660.3(SLC35A2):c.989T>C (p.Leu330Pro)

SNV
Germline

ChrX:48904920

Likely pathogenic

SLC35A2-congenital disorder of glycosylation

Criteria Provided
Single Submitter

rs_2063477376

1 SubmittersRCV001289474

NM_001382.4(DPAGT1):c.1197T>A (p.Tyr399Ter)

SNV
Unknown

Chr11:119097028

Likely pathogenic

Congenital disorder of glycosylation

No Assertion Criteria Provided

rs_1946406410

1 SubmittersRCV001291273

NM_001382.4(DPAGT1):c.1117C>G (p.Pro373Ala)

SNV
Unknown

Chr11:119097186

Likely pathogenic

Congenital disorder of glycosylation

No Assertion Criteria Provided

rs_1210999092

1 SubmittersRCV001291451

NM_001382.4(DPAGT1):c.419A>G (p.Tyr140Cys)

SNV
Germline

Chr11:119100707

Likely pathogenic

Congenital disorder of glycosylation

No Assertion Criteria Provided

rs_777142166

1 SubmittersRCV001291400

NM_001382.4(DPAGT1):c.2T>C (p.Met1Thr)

SNV
Unknown

Chr11:119101654

Likely pathogenic

Congenital disorder of glycosylation

No Assertion Criteria Provided

rs_1946512581

1 SubmittersRCV001291447

NM_007357.3(COG2):c.1855C>T (p.Gln619Ter)

SNV
Germline

Chr1:230690074

Likely pathogenic

Congenital disorder of glycosylation, type IIq

Criteria Provided
Single Submitter

rs_1662986310

1 SubmittersRCV001291776

NM_001367916.1(MAGT1):c.-3A>G

SNV
Germline

ChrX:77895413

Conflicting classifications of pathogenicity

Congenital disorder of glycosylation, type ICC
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia

Criteria Provided
Conflicting Classifications

rs_781882781

2 SubmittersRCV001291763 RCV001499822

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_001164277.2(SLC37A4):c.264C>T (p.Gly88=)

SNV
Germline

Chr11:119028311

Conflicting classifications of pathogenicity

Glucose-6-phosphate transport defect
Congenital disorder of glycosylation, type IIw
Phosphate transport defect
Glucose-6-phosphate transport defect

Criteria Provided
Conflicting Classifications

rs_782292086

3 SubmittersRCV001319846 RCV002486269

NM_145059.3(FCSK):c.2221C>T (p.Arg741Ter)

SNV
Unknown

Chr16:70474855

Likely pathogenic

Congenital disorder of glycosylation with defective fucosylation 2

Criteria Provided
Single Submitter

rs_562205568

1 SubmittersRCV001332946

NM_005660.3(SLC35A2):c.340A>T (p.Lys114Ter)

SNV
Germline

ChrX:48906478

Pathogenic

SLC35A2-congenital disorder of glycosylation

Criteria Provided
Single Submitter

rs_2063491273

1 SubmittersRCV001331522

NM_138459.5(NUS1):c.246C>G (p.His82Gln)

SNV
Germline

Chr6:117675916

Conflicting classifications of pathogenicity

Congenital disorder of glycosylation, type IAA
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_1023259853

3 SubmittersRCV001335391 RCV003169564

NM_024740.2(ALG9):c.125G>C (p.Arg42Pro)

SNV
Germline

Chr11:111871358

Conflicting classifications of pathogenicity

ALG9 congenital disorder of glycosylation
ALG9-related disorder

Criteria Provided
Conflicting Classifications

rs_781880611

3 SubmittersRCV001336661 RCV003963229

NM_007347.5(AP4E1):c.3313C>T (p.Arg1105Ter)

SNV
Germline

Chr15:51002561

Pathogenic

ALG12-congenital disorder of glycosylation
Hereditary spastic paraplegia 51
Spastic paraplegia

Criteria Provided
Single Submitter

rs_1313275799

3 SubmittersRCV001333647 RCV001779155 RCV001849507

NM_001382.4(DPAGT1):c.1037A>G (p.His346Arg)

SNV
Germline

Chr11:119097266

Conflicting classifications of pathogenicity

Congenital myasthenic syndrome 13
DPAGT1-congenital disorder of glycosylation
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_1301940016

2 SubmittersRCV001338067 RCV002547374

NM_032382.5(COG8):c.1468G>T (p.Gly490Trp)

SNV
Germline

Chr16:69332828

Conflicting classifications of pathogenicity

COG8-congenital disorder of glycosylation
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_202134146

2 SubmittersRCV001344146 RCV003246910

NM_005787.6(ALG3):c.1061G>A (p.Arg354His)

SNV
Germline

Chr3:184242906

Pathogenic

ALG3-congenital disorder of glycosylation

Criteria Provided
Single Submitter

rs_546890576

1 SubmittersRCV001361335

NM_032382.5(COG8):c.19A>G (p.Ile7Val)

SNV
Germline

Chr16:69339534

Conflicting classifications of pathogenicity

COG8-congenital disorder of glycosylation
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_200765847

2 SubmittersRCV001370501 RCV002550106

NM_005660.3(SLC35A2):c.426+1G>A

SNV
Germline

ChrX:48906391

Pathogenic

SLC35A2-congenital disorder of glycosylation

Criteria Provided
Single Submitter

rs_2147489491

1 SubmittersRCV001374455

NM_024079.5(ALG8):c.479A>T (p.His160Leu)

SNV
Germline

Chr11:78119249

Pathogenic

ALG8 congenital disorder of glycosylation

No Assertion Criteria Provided

rs_2136915887

1 SubmittersRCV001374721

NM_004481.5(GALNT2):c.623G>A (p.Arg208Gln)

SNV
Germline

Chr1:230243321

Likely pathogenic

Congenital disorder of glycosylation, type iit

Criteria Provided
Single Submitter

rs_2102741708

1 SubmittersRCV001376175

NM_002633.3(PGM1):c.988G>C (p.Gly330Arg)

SNV
Germline

Chr1:63636348

Pathogenic/Likely pathogenic

PGM1-congenital disorder of glycosylation

Criteria Provided
Multiple Submitters
No Conflicts

rs_777164338

2 SubmittersRCV001378469

NM_002633.3(PGM1):c.1281-2A>G

SNV
Germline

Chr1:63651667

Likely pathogenic

PGM1-congenital disorder of glycosylation

Criteria Provided
Single Submitter

rs_1649810314

1 SubmittersRCV001377288

NM_012463.4(ATP6V0A2):c.2203C>T (p.Gln735Ter)

SNV
Germline

Chr12:123754447

Pathogenic

ALG9 congenital disorder of glycosylation

Criteria Provided
Single Submitter

rs_2135920743

1 SubmittersRCV001387990

NM_005660.3(SLC35A2):c.327T>G (p.Tyr109Ter)

SNV
Germline

ChrX:48906491

Pathogenic

SLC35A2-congenital disorder of glycosylation

Criteria Provided
Single Submitter

rs_2147489736

1 SubmittersRCV001385378

NM_002633.3(PGM1):c.247-5696A>T

SNV
Germline

Chr1:63623729

Conflicting classifications of pathogenicity

PGM1-congenital disorder of glycosylation
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

rs_200881174

4 SubmittersRCV001400107 RCV001581119 RCV001820098

NM_003859.3(DPM1):c.371A>G (p.His124Arg)

SNV
Germline

Chr20:50945848

Likely pathogenic

Congenital disorder of glycosylation type 1E

Criteria Provided
Single Submitter

rs_2123115725

1 SubmittersRCV001420139

NM_004481.5(GALNT2):c.648A>T (p.Gln216His)

SNV
Germline

Chr1:230243346

Conflicting classifications of pathogenicity

Condition: not provided
Congenital disorder of glycosylation, type iit

Criteria Provided
Conflicting Classifications

rs_142046356

2 SubmittersRCV001424245 RCV002468246

NM_005787.6(ALG3):c.72G>A (p.Trp24Ter)

SNV
Germline

Chr3:184248869

Pathogenic

ALG3-congenital disorder of glycosylation

Criteria Provided
Single Submitter

rs_1023520147

2 SubmittersRCV001526666

NM_024740.2(ALG9):c.701+1G>A

SNV
Unknown

Chr11:111857601

Likely pathogenic

ALG9 congenital disorder of glycosylation
Gillessen-Kaesbach-Nishimura syndrome

Criteria Provided
Single Submitter

rs_2137107185

1 SubmittersRCV001536021

NM_001382.4(DPAGT1):c.902G>A (p.Arg301His)

SNV
Germline

Chr11:119097870

Pathogenic/Likely pathogenic

Abnormality of metabolism/homeostasis
DPAGT1-congenital disorder of glycosylation
Congenital myasthenic syndrome 13
DPAGT1-congenital disorder of glycosylation

Criteria Provided
Multiple Submitters
No Conflicts

rs_768416381

3 SubmittersRCV001814361 RCV002568239 RCV003987875

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_033087.4(ALG2):c.176G>A (p.Cys59Tyr)

SNV
Germline

Chr9:99221719

Likely pathogenic

ALG2-congenital disorder of glycosylation

No Assertion Criteria Provided

rs_757068626

1 SubmittersRCV001542584

NM_005787.6(ALG3):c.1154G>C (p.Arg385Thr)

SNV
Germline

Chr3:184242813

Pathogenic

ALG3-congenital disorder of glycosylation

No Assertion Criteria Provided

rs_376927697

1 SubmittersRCV001543410

NM_005787.6(ALG3):c.796C>T (p.Arg266Cys)

SNV
Germline

Chr3:184243927

Pathogenic

ALG3-congenital disorder of glycosylation
Condition: not provided

Criteria Provided
Single Submitter

rs_747953768

2 SubmittersRCV001543406 RCV001658270

NM_005787.6(ALG3):c.656T>C (p.Leu219Pro)

SNV
Germline

Chr3:184244671

Pathogenic

ALG3-congenital disorder of glycosylation

No Assertion Criteria Provided

rs_1423328264

1 SubmittersRCV001543404

NM_005787.6(ALG3):c.521A>G (p.Asn174Ser)

SNV
Germline

Chr3:184245282

Likely pathogenic

ALG3-congenital disorder of glycosylation

Criteria Provided
Single Submitter

rs_1719068613

2 SubmittersRCV001543411

NM_001164277.2(SLC37A4):c.1267C>T (p.Arg423Ter)

SNV
Germline

Chr11:119024933

Pathogenic/Likely pathogenic

Congenital disorder of glycosylation
Congenital disorder of glycosylation, type IIw
Glucose-6-phosphate transport defect
Congenital disorder of glycosylation, type IIw
Phosphate transport defect

Criteria Provided
Multiple Submitters
No Conflicts

rs_2134626266

4 SubmittersRCV001543403 RCV001647389 RCV002506653

NM_153603.4(COG7):c.1817C>A (p.Ala606Asp)

SNV
Germline

Chr16:23398116

Likely pathogenic

COG7 congenital disorder of glycosylation

Criteria Provided
Single Submitter

rs_768615420

1 SubmittersRCV001821868

NM_153603.4(COG7):c.1046A>G (p.Asp349Gly)

SNV
Germline

Chr16:23418791

Likely pathogenic

COG7 congenital disorder of glycosylation

Criteria Provided
Single Submitter

rs_1036433681

1 SubmittersRCV001821869

NM_025191.4(EDEM3):c.940A>T (p.Arg314Ter)

SNV
Germline

Chr1:184721300

Pathogenic

Congenital disorder of glycosylation, type 2v

No Assertion Criteria Provided

rs_2102089507

1 SubmittersRCV001580175

NM_025191.4(EDEM3):c.853+1G>T

SNV
Germline

Chr1:184723750

Pathogenic

Congenital disorder of glycosylation, type 2v

No Assertion Criteria Provided

rs_2102093642

1 SubmittersRCV001580176

NM_025191.4(EDEM3):c.1407T>A (p.Tyr469Ter)

SNV
Germline

Chr1:184712562

Pathogenic

Congenital disorder of glycosylation, type 2v

No Assertion Criteria Provided

rs_902837579

1 SubmittersRCV001580177

NM_025191.4(EDEM3):c.182A>G (p.Asp61Gly)

SNV
Germline

Chr1:184749569

Pathogenic

Congenital disorder of glycosylation, type 2v

No Assertion Criteria Provided

rs_777353823

1 SubmittersRCV001580179

NM_025191.4(EDEM3):c.1366G>A (p.Asp456Asn)

SNV
Germline

Chr1:184716892

Pathogenic

Congenital disorder of glycosylation, type 2v

No Assertion Criteria Provided

rs_2102081233

1 SubmittersRCV001580180

NM_024740.2(ALG9):c.1363C>T (p.Arg455Ter)

SNV
Germline

Chr11:111837577

Conflicting classifications of pathogenicity

Condition: not provided
ALG9 congenital disorder of glycosylation

Criteria Provided
Conflicting Classifications

rs_782775735

3 SubmittersRCV001771540 RCV002471150

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_012463.4(ATP6V0A2):c.2293+1G>A

SNV
Germline

Chr12:123754538

Likely pathogenic

Condition: not provided
ALG9 congenital disorder of glycosylation

Criteria Provided
Multiple Submitters
No Conflicts

rs_750984566

2 SubmittersRCV001780636 RCV003609191

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_003859.3(DPM1):c.439C>T (p.Arg147Cys)

SNV
Germline

Chr20:50942086

Conflicting classifications of pathogenicity

Congenital disorder of glycosylation type 1E

Criteria Provided
Conflicting Classifications

rs_1225648834

2 SubmittersRCV001795601

NM_138459.5(NUS1):c.692-2A>G

SNV
Germline

Chr6:117703603

Likely pathogenic

Intellectual disability, autosomal dominant 55, with seizures
Congenital disorder of glycosylation, type IAA

Criteria Provided
Multiple Submitters
No Conflicts

rs_2114693876

2 SubmittersRCV001809277 RCV001869602

NM_005660.3(SLC35A2):c.803C>T (p.Thr268Ile)

SNV
Germline

ChrX:48905106

Likely pathogenic

SLC35A2-congenital disorder of glycosylation

Criteria Provided
Single Submitter

rs_2147486594

1 SubmittersRCV001814875

NM_152713.5(STT3A):c.137A>G (p.His46Arg)

SNV
Germline

Chr11:125597107

Likely pathogenic

Congenital disorder of glycosylation, type Iw, autosomal dominant

Criteria Provided
Single Submitter

rs_2135904246

2 SubmittersRCV001815047

NM_152713.5(STT3A):c.479G>A (p.Arg160Gln)

SNV
Germline

Chr11:125604218

Likely pathogenic

Congenital disorder of glycosylation, type Iw, autosomal dominant

Criteria Provided
Single Submitter

rs_2135921186

2 SubmittersRCV001815048

NM_152713.5(STT3A):c.1213C>T (p.Arg405Cys)

SNV
Germline

Chr11:125612595

Pathogenic

Congenital disorder of glycosylation, type Iw, autosomal dominant

Criteria Provided
Single Submitter

rs_2135938300

2 SubmittersRCV001815049

NM_152713.5(STT3A):c.1214G>A (p.Arg405His)

SNV
Germline

Chr11:125612596

Likely pathogenic

Congenital disorder of glycosylation, type Iw, autosomal dominant

Criteria Provided
Single Submitter

rs_780062429

2 SubmittersRCV001815050

NM_153603.4(COG7):c.1A>G (p.Met1Val)

SNV
Germline

Chr16:23452994

Pathogenic

COG7 congenital disorder of glycosylation

Criteria Provided
Single Submitter

rs_1051352713

1 SubmittersRCV001815626

NM_024079.5(ALG8):c.206C>T (p.Pro69Leu)

SNV
Germline

Chr11:78124183

Likely pathogenic

ALG8 congenital disorder of glycosylation

Criteria Provided
Single Submitter

rs_748962880

1 SubmittersRCV001829280

NM_024079.5(ALG8):c.95+1G>A

SNV
Germline

Chr11:78139493

Likely pathogenic

Condition: not provided
Polycystic liver disease 3 with or without kidney cysts
ALG8 congenital disorder of glycosylation

Criteria Provided
Multiple Submitters
No Conflicts

rs_1323512637

2 SubmittersRCV002034822 RCV002489904

NM_003859.3(DPM1):c.649G>A (p.Ala217Thr)

SNV
Germline

Chr20:50936177

Conflicting classifications of pathogenicity

Congenital disorder of glycosylation type 1E

Criteria Provided
Conflicting Classifications

rs_1197456861

2 SubmittersRCV001995493

NM_138459.5(NUS1):c.174G>T (p.Lys58Asn)

SNV
Germline

Chr6:117675844

Conflicting classifications of pathogenicity

Congenital disorder of glycosylation, type IAA
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_761121795

2 SubmittersRCV001919194 RCV002074438

NM_138459.5(NUS1):c.15C>A (p.Tyr5Ter)

SNV
Germline

Chr6:117675685

Pathogenic

Congenital disorder of glycosylation, type IAA

Criteria Provided
Single Submitter

rs_1449400618

1 SubmittersRCV001881454

NM_012463.4(ATP6V0A2):c.118-1G>T

SNV
Germline

Chr12:123718622

Likely pathogenic

ALG9 congenital disorder of glycosylation

Criteria Provided
Single Submitter

rs_2135879573

1 SubmittersRCV001985792

NM_138459.5(NUS1):c.719T>G (p.Leu240Ter)

SNV
Germline

Chr6:117703632

Pathogenic

Congenital disorder of glycosylation, type IAA

Criteria Provided
Single Submitter

rs_2114693896

1 SubmittersRCV001863845

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_024592.5(SRD5A3):c.279C>A (p.Cys93Ter)

SNV
Germline

Chr4:55359403

Pathogenic

SRD5A3-congenital disorder of glycosylation

Criteria Provided
Single Submitter

rs_1482361634

1 SubmittersRCV001901832

NM_001382.4(DPAGT1):c.1139C>T (p.Thr380Ile)

SNV
Germline

Chr11:119097164

Likely pathogenic

Congenital myasthenic syndrome 13
DPAGT1-congenital disorder of glycosylation
DPAGT1-congenital disorder of glycosylation
Congenital myasthenic syndrome 13

Criteria Provided
Multiple Submitters
No Conflicts

rs_776720609

3 SubmittersRCV001877426 RCV002472315 RCV003236669

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
Congenital disorder of glycosylation
not specified

Criteria Provided
Conflicting Classifications

rs_778368053

3 SubmittersRCV001998830 RCV002227574 RCV003987953

NM_024740.2(ALG9):c.566-1G>A

SNV
Germline

Chr11:111857738

Likely pathogenic

ALG9 congenital disorder of glycosylation
ALG9 congenital disorder of glycosylation
Gillessen-Kaesbach-Nishimura syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_782379446

2 SubmittersRCV002031468 RCV002498081

NM_003859.3(DPM1):c.571C>T (p.Arg191Ter)

SNV
Germline

Chr20:50936255

Pathogenic

Congenital disorder of glycosylation type 1E

Criteria Provided
Single Submitter

rs_1324743951

1 SubmittersRCV001982510

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_005660.3(SLC35A2):c.1100A>G (p.Gln367Arg)

SNV
Germline

ChrX:48904809

Conflicting classifications of pathogenicity

SLC35A2-congenital disorder of glycosylation
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_782516328

2 SubmittersRCV001989879 RCV002563575

NM_005660.3(SLC35A2):c.385C>T (p.Gln129Ter)

SNV
Germline

ChrX:48906433

Pathogenic

SLC35A2-congenital disorder of glycosylation

Criteria Provided
Single Submitter

rs_2147489558

1 SubmittersRCV001997611

NM_012463.4(ATP6V0A2):c.2055+4A>C

SNV
Germline

Chr12:123751233

Conflicting classifications of pathogenicity

ALG9 congenital disorder of glycosylation
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_2135917390

2 SubmittersRCV001874523 RCV004040451

NM_005216.4(DDOST):c.32C>T (p.Ser11Phe)

SNV
Germline

Chr1:20661370

Conflicting classifications of pathogenicity

Congenital disorder of glycosylation type Ir
not specified

Criteria Provided
Conflicting Classifications

rs_140102515

2 SubmittersRCV001983143 RCV004044409

NM_153603.4(COG7):c.1293G>A (p.Lys431=)

SNV
Germline

Chr16:23413564

Conflicting classifications of pathogenicity

COG7 congenital disorder of glycosylation
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_554871778

2 SubmittersRCV001886421 RCV003365497

NM_001382.4(DPAGT1):c.644-1G>T

SNV
Germline

Chr11:119098488

Likely pathogenic

DPAGT1-congenital disorder of glycosylation
Congenital myasthenic syndrome 13

Criteria Provided
Single Submitter

rs_2134903748

1 SubmittersRCV002000274

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_032382.5(COG8):c.1549C>G (p.Leu517Val)

SNV
Germline

Chr16:69332747

Conflicting classifications of pathogenicity

COG8-congenital disorder of glycosylation
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_138398268

2 SubmittersRCV001924744 RCV002552886

NM_005660.3(SLC35A2):c.136C>T (p.Gln46Ter)

SNV
Germline

ChrX:48909952

Pathogenic

SLC35A2-congenital disorder of glycosylation

Criteria Provided
Single Submitter

rs_2147496735

1 SubmittersRCV001956129

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_002633.3(PGM1):c.1544G>A (p.Arg515Gln)

SNV
Germline

Chr1:63654411

Pathogenic

PGM1-congenital disorder of glycosylation

Criteria Provided
Single Submitter

rs_1453920894

1 SubmittersRCV001904562

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_024079.5(ALG8):c.802C>T (p.Arg268Ter)

SNV
Germline

Chr11:78112746

Pathogenic

ALG8 congenital disorder of glycosylation

Criteria Provided
Single Submitter

rs_772492143

1 SubmittersRCV001915953

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_003859.3(DPM1):c.494+2T>C

SNV
Germline

Chr20:50942029

Likely pathogenic

Congenital disorder of glycosylation type 1E

Criteria Provided
Single Submitter

rs_1478040715

1 SubmittersRCV002042647

NM_001382.4(DPAGT1):c.6G>A (p.Trp2Ter)

SNV
Germline

Chr11:119101650

Pathogenic

Congenital myasthenic syndrome 13
DPAGT1-congenital disorder of glycosylation

Criteria Provided
Single Submitter

rs_2134919748

1 SubmittersRCV001951610

NM_138459.5(NUS1):c.844C>T (p.Arg282Cys)

SNV
Germline

Chr6:117706977

Conflicting classifications of pathogenicity

Congenital disorder of glycosylation, type IAA
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_150953098

2 SubmittersRCV001976999 RCV002579689

NM_138459.5(NUS1):c.868C>T (p.Arg290Cys)

SNV
Germline

Chr6:117707001

Likely pathogenic

Congenital disorder of glycosylation, type IAA

Criteria Provided
Single Submitter

rs_2114696019

1 SubmittersRCV002012498

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_005660.3(SLC35A2):c.610G>A (p.Ala204Thr)

SNV
Germline

ChrX:48905299

Conflicting classifications of pathogenicity

SLC35A2-congenital disorder of glycosylation
SLC35A2-related disorder

Criteria Provided
Conflicting Classifications

rs_2147487234

2 SubmittersRCV002099643 RCV003403670

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_024740.2(ALG9):c.1762G>T (p.Val588Phe)

SNV
Germline

Chr11:111786492

Conflicting classifications of pathogenicity

ALG9 congenital disorder of glycosylation
Condition: not provided
ALG9-related disorder

Criteria Provided
Conflicting Classifications

rs_150225347

3 SubmittersRCV002133080 RCV002265062 RCV003923757

NM_005660.3(SLC35A2):c.496C>T (p.Arg166Trp)

SNV
Germline

ChrX:48905413

Conflicting classifications of pathogenicity

SLC35A2-congenital disorder of glycosylation
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_782340868

2 SubmittersRCV002153043 RCV002269391

NM_033087.4(ALG2):c.752G>T (p.Arg251Leu)

SNV
Germline

Chr9:99218433

Pathogenic

ALG2-congenital disorder of glycosylation

No Assertion Criteria Provided

rs_201729325

1 SubmittersRCV004565246

NM_153603.4(COG7):c.318+1G>A

SNV
Germline

Chr16:23445812

Conflicting classifications of pathogenicity

Condition: not provided
COG7 congenital disorder of glycosylation

Criteria Provided
Conflicting Classifications

rs_945537370

2 SubmittersRCV002221804 RCV003089136

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_145059.3(FCSK):c.2068C>T (p.Gln690Ter)

SNV
Germline

Chr16:70474607

Conflicting classifications of pathogenicity

Congenital disorder of glycosylation with defective fucosylation
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_375737602

2 SubmittersRCV002238679 RCV003093926

NM_001382.4(DPAGT1):c.643+1G>A

SNV
Germline

Chr11:119100261

Likely pathogenic

DPAGT1-congenital disorder of glycosylation

Criteria Provided
Single Submitter

rs_2134910617

1 SubmittersRCV002249031

NM_005660.3(SLC35A2):c.1A>T (p.Met1Leu)

SNV
Germline

ChrX:48911636

Pathogenic

SLC35A2-congenital disorder of glycosylation

Criteria Provided
Single Submitter

rs_1042469070

1 SubmittersRCV002246722

NM_024592.5(SRD5A3):c.697+1G>C

SNV
Germline

Chr4:55367723

Conflicting classifications of pathogenicity

SRD5A3-congenital disorder of glycosylation

Criteria Provided
Conflicting Classifications

rs_1719958144

2 SubmittersRCV002246742

NM_001371533.1(FUT8):c.952C>T (p.Arg318Ter)

SNV
Germline

Chr14:65721891

Likely pathogenic

Congenital disorder of glycosylation with defective fucosylation 1

Criteria Provided
Single Submitter

rs_371242983

1 SubmittersRCV002250965

NM_024079.5(ALG8):c.478C>T (p.His160Tyr)

SNV
Germline

Chr11:78121065

Pathogenic

ALG8 congenital disorder of glycosylation

Criteria Provided
Single Submitter

1 SubmittersRCV002463374

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_024740.2(ALG9):c.1460T>C (p.Leu487Pro)

SNV
Germline

Chr11:111837480

Pathogenic

ALG9 congenital disorder of glycosylation

No Assertion Criteria Provided

rs_2136827755

2 SubmittersRCV002271979

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

2 SubmittersRCV002278988 RCV003096298

NM_145059.3(FCSK):c.1407-1G>C

SNV
Germline

Chr16:70472982

Conflicting classifications of pathogenicity

not specified
Congenital disorder of glycosylation with defective fucosylation 2
Condition: not provided

Criteria Provided
Conflicting Classifications

3 SubmittersRCV002283433 RCV002283585 RCV003096365

NM_005660.3(SLC35A2):c.308A>T (p.Glu103Val)

SNV
Germline

ChrX:48906510

Likely pathogenic

Congenital disorder of glycosylation

Criteria Provided
Single Submitter

1 SubmittersRCV003152647

NM_012463.4(ATP6V0A2):c.2015T>A (p.Leu672Ter)

SNV
Germline

Chr12:123751189

Pathogenic

ALG9 congenital disorder of glycosylation

Criteria Provided
Single Submitter

1 SubmittersRCV003058403

NM_002633.3(PGM1):c.877C>T (p.Arg293Ter)

SNV
Germline

Chr1:63636237

Pathogenic

PGM1-congenital disorder of glycosylation

Criteria Provided
Single Submitter

1 SubmittersRCV003065371

NM_005216.5(DDOST):c.795G>A (p.Arg265=)

SNV
Germline

Chr1:20653774

Conflicting classifications of pathogenicity

Congenital disorder of glycosylation type Ir
DDOST-related disorder

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003089442 RCV003943769

NM_024740.2(ALG9):c.1431A>G (p.Lys477=)

SNV
Germline

Chr11:111837509

Conflicting classifications of pathogenicity

ALG9 congenital disorder of glycosylation
ALG9-related disorder

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003091958 RCV003906494

NM_002633.3(PGM1):c.871G>A (p.Gly291Arg)

SNV
Germline

Chr1:63635017

Likely pathogenic

PGM1-congenital disorder of glycosylation
PGM1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002648157 RCV004538859

NM_152713.5(STT3A):c.251T>C (p.Ile84Thr)

SNV
Germline

Chr11:125602404

Likely pathogenic

Congenital disorder of glycosylation, type Iw, autosomal dominant

Criteria Provided
Single Submitter

1 SubmittersRCV002512488

NM_012463.4(ATP6V0A2):c.302T>A (p.Leu101Ter)

SNV
Germline

Chr12:123724661

Pathogenic

ALG9 congenital disorder of glycosylation

Criteria Provided
Single Submitter

1 SubmittersRCV002797313

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_002633.3(PGM1):c.511G>T (p.Gly171Ter)

SNV
Germline

Chr1:63630043

Pathogenic

PGM1-congenital disorder of glycosylation

Criteria Provided
Single Submitter

1 SubmittersRCV002856493

NM_024740.2(ALG9):c.896-2A>G

SNV
Germline

Chr11:111844725

Likely pathogenic

ALG9 congenital disorder of glycosylation

Criteria Provided
Single Submitter

1 SubmittersRCV002833320

NM_003859.3(DPM1):c.495-1G>T

SNV
Germline

Chr20:50940934

Likely pathogenic

Congenital disorder of glycosylation type 1E

Criteria Provided
Single Submitter

1 SubmittersRCV002858120

NM_012463.4(ATP6V0A2):c.1926C>A (p.Tyr642Ter)

SNV
Germline

Chr12:123748776

Pathogenic

ALG9 congenital disorder of glycosylation

Criteria Provided
Single Submitter

1 SubmittersRCV002848362

NM_012463.4(ATP6V0A2):c.1039-1G>A

SNV
Germline

Chr12:123743784

Likely pathogenic

ALG9 congenital disorder of glycosylation

Criteria Provided
Single Submitter

1 SubmittersRCV002851954

NM_138459.5(NUS1):c.214C>T (p.Pro72Ser)

SNV
Germline

Chr6:117675884

Conflicting classifications of pathogenicity

Congenital disorder of glycosylation, type IAA
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002934044 RCV002966145

NM_024740.2(ALG9):c.744G>A (p.Trp248Ter)

SNV
Germline

Chr11:111853694

Pathogenic

ALG9 congenital disorder of glycosylation

Criteria Provided
Single Submitter

1 SubmittersRCV003007723

NM_138459.5(NUS1):c.695C>G (p.Ser232Ter)

SNV
Germline

Chr6:117703608

Pathogenic

Congenital disorder of glycosylation, type IAA

Criteria Provided
Single Submitter

1 SubmittersRCV003017014

NM_138459.5(NUS1):c.542-1G>T

SNV
Germline

Chr6:117694030

Likely pathogenic

Congenital disorder of glycosylation, type IAA

Criteria Provided
Single Submitter

1 SubmittersRCV003026038

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_024079.5(ALG8):c.259C>T (p.Gln87Ter)

SNV
Germline

Chr11:78124130

Pathogenic

ALG8 congenital disorder of glycosylation

Criteria Provided
Single Submitter

1 SubmittersRCV003035656

NM_024740.2(ALG9):c.131+1G>C

SNV
Germline

Chr11:111871351

Likely pathogenic

ALG9 congenital disorder of glycosylation

Criteria Provided
Single Submitter

1 SubmittersRCV003059259

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_152713.5(STT3A):c.1213C>A (p.Arg405Ser)

SNV
Germline

Chr11:125612595

Likely pathogenic

Congenital disorder of glycosylation, type Iw, autosomal dominant

Criteria Provided
Single Submitter

1 SubmittersRCV003225865

NM_001745.4(CAMLG):c.633+4A>G

SNV
Germline

Chr5:134741527

Pathogenic

Congenital disorder of glycosylation, type IIz

No Assertion Criteria Provided

1 SubmittersRCV003152398

NM_001382.4(DPAGT1):c.160A>T (p.Ile54Phe)

SNV
Germline

Chr11:119101496

Likely pathogenic

DPAGT1-congenital disorder of glycosylation

Criteria Provided
Single Submitter

1 SubmittersRCV003237327

NM_005660.3(SLC35A2):c.832C>T (p.Gln278Ter)

SNV
Germline

ChrX:48905077

Pathogenic

SLC35A2-congenital disorder of glycosylation

Criteria Provided
Single Submitter

1 SubmittersRCV003321453

NM_031431.4(COG3):c.124T>C (p.Ser42Pro)

SNV
Germline

Chr13:45465160

Pathogenic

Congenital disorder of glycosylation, type IIbb

No Assertion Criteria Provided

1 SubmittersRCV003337695

NM_031431.4(COG3):c.109G>C (p.Asp37His)

SNV
Germline

Chr13:45465145

Pathogenic

Congenital disorder of glycosylation, type IIbb

No Assertion Criteria Provided

1 SubmittersRCV003337696

NM_012463.4(ATP6V0A2):c.516A>G (p.Lys172=)

SNV
Germline

Chr12:123726280

Conflicting classifications of pathogenicity

Condition: not provided
ALG9 congenital disorder of glycosylation

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003482862 RCV003609301

NM_002633.3(PGM1):c.689G>A (p.Gly230Glu)

SNV
Germline

Chr1:63634835

Likely pathogenic

PGM1-congenital disorder of glycosylation

Criteria Provided
Single Submitter

1 SubmittersRCV003487101

NM_001128840.3(CACNA1D):c.2239T>C (p.Phe747Leu)

SNV
Germline

Chr3:53730459

Pathogenic

Congenital disorder of glycosylation, type Iw, autosomal dominant

No Assertion Criteria Provided

1 SubmittersRCV003493390

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_005787.6(ALG3):c.1060C>T (p.Arg354Cys)

SNV
Germline

Chr3:184242907

Likely pathogenic

ALG3-congenital disorder of glycosylation

Criteria Provided
Single Submitter

1 SubmittersRCV003499934

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_012463.4(ATP6V0A2):c.1189G>C (p.Ala397Pro)

SNV
Germline

Chr12:123743935

Likely pathogenic

ALG9 congenital disorder of glycosylation

Criteria Provided
Single Submitter

1 SubmittersRCV003502171

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_153603.4(COG7):c.1784T>A (p.Leu595Ter)

SNV
Germline

Chr16:23403713

Pathogenic

COG7 congenital disorder of glycosylation

Criteria Provided
Single Submitter

1 SubmittersRCV003504081

NM_012463.4(ATP6V0A2):c.666G>A (p.Trp222Ter)

SNV
Germline

Chr12:123733943

Pathogenic

ALG9 congenital disorder of glycosylation

Criteria Provided
Single Submitter

1 SubmittersRCV003609476

NM_024079.5(ALG8):c.368+1G>A

SNV
Germline

Chr11:78124020

Likely pathogenic

ALG8 congenital disorder of glycosylation

Criteria Provided
Single Submitter

1 SubmittersRCV003606029

NM_138459.5(NUS1):c.3G>A (p.Met1Ile)

SNV
Germline

Chr6:117675673

Conflicting classifications of pathogenicity

Congenital disorder of glycosylation, type IAA
NUS1-related disorder

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003755406 RCV003981043

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_138459.5(NUS1):c.308T>G (p.Leu103Arg)

SNV
Germline

Chr6:117675978

Likely pathogenic

Congenital disorder of glycosylation, type IAA

Criteria Provided
Single Submitter

1 SubmittersRCV003755469

NM_138459.5(NUS1):c.565A>T (p.Lys189Ter)

SNV
Germline

Chr6:117694054

Pathogenic

Congenital disorder of glycosylation, type IAA

Criteria Provided
Single Submitter

1 SubmittersRCV003755525

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_012463.4(ATP6V0A2):c.1994T>A (p.Leu665Ter)

SNV
Germline

Chr12:123751168

Pathogenic

ALG9 congenital disorder of glycosylation

Criteria Provided
Single Submitter

1 SubmittersRCV003608776

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

SNV
Germline

Chr16:5082649

Likely pathogenic

ALG1-congenital disorder of glycosylation

Criteria Provided
Single Submitter

1 SubmittersRCV003613187

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

SNV
Germline

Chr16:5077905

Likely pathogenic

ALG1-congenital disorder of glycosylation

Criteria Provided
Single Submitter

1 SubmittersRCV003613267

NM_138459.5(NUS1):c.415+2T>G

SNV
Germline

Chr6:117676087

Pathogenic

Congenital disorder of glycosylation, type IAA

Criteria Provided
Single Submitter

1 SubmittersRCV003755815

NM_138459.5(NUS1):c.110G>A (p.Trp37Ter)

SNV
Germline

Chr6:117675780

Pathogenic

Congenital disorder of glycosylation, type IAA

Criteria Provided
Single Submitter

1 SubmittersRCV003755818

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_012463.4(ATP6V0A2):c.2056-2A>G

SNV
Germline

Chr12:123752281

Likely pathogenic

ALG9 congenital disorder of glycosylation

Criteria Provided
Single Submitter

1 SubmittersRCV003610715

NM_005660.3(SLC35A2):c.923C>T (p.Ser308Phe)

SNV
Germline

ChrX:48904986

Pathogenic

SLC35A2-congenital disorder of glycosylation

Criteria Provided
Single Submitter

2 SubmittersRCV003740887

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_001382.4(DPAGT1):c.732C>A (p.Tyr244Ter)

SNV
Germline

Chr11:119098040

Pathogenic

DPAGT1-congenital disorder of glycosylation
Congenital myasthenic syndrome 13

Criteria Provided
Single Submitter

1 SubmittersRCV003781192

NM_001382.4(DPAGT1):c.1005+1G>A

SNV
Germline

Chr11:119097463

Likely pathogenic

DPAGT1-congenital disorder of glycosylation
Congenital myasthenic syndrome 13

Criteria Provided
Single Submitter

1 SubmittersRCV003813404

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_012463.4(ATP6V0A2):c.877G>T (p.Glu293Ter)

SNV
Germline

Chr12:123737110

Pathogenic

ALG9 congenital disorder of glycosylation

Criteria Provided
Single Submitter

1 SubmittersRCV003861084

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_005660.3(SLC35A2):c.541A>G (p.Ile181Val)

SNV
Germline

ChrX:48905368

Pathogenic

SLC35A2-congenital disorder of glycosylation

No Assertion Criteria Provided

1 SubmittersRCV003882756

NM_002408.4(MGAT2):c.1085G>A (p.Trp362Ter)

SNV
Germline

Chr14:49622353

Likely pathogenic

MGAT2-congenital disorder of glycosylation

Criteria Provided
Single Submitter

1 SubmittersRCV003984967

NM_145059.3(FCSK):c.956-1G>A

SNV
Germline

Chr16:70470313

Likely pathogenic

Congenital disorder of glycosylation with defective fucosylation 2

Criteria Provided
Single Submitter

1 SubmittersRCV003990216

NM_005787.6(ALG3):c.921C>A (p.Cys307Ter)

SNV
Germline

Chr3:184243802

Likely pathogenic

Congenital disorder of glycosylation

Criteria Provided
Single Submitter

1 SubmittersRCV004018348