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 Cutis laxa ALG9 congenital disorder of glycosylation	Criteria Provided Multiple Submitters No Conflicts	CA223052	rs_80356750	5 SubmittersRCV000000888 RCV000790836 RCV004579513 RCV003502506
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 Familial aplasia of the vermis Nephronophthisis Meckel-Gruber syndrome Bardet-Biedl syndrome 14 Joubert syndrome 5 Leber congenital amaurosis 10 Meckel syndrome, type 4 Senior-Loken syndrome 6 Retinal dystrophy Retinitis pigmentosa Meckel syndrome, type 6 Meckel syndrome, type 4 Joubert syndrome 5 Senior-Loken syndrome 6 Leber congenital amaurosis 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 CEP290-related disorder Leber congenital amaurosis 10	Criteria Provided Multiple Submitters No Conflicts	CA150917	rs_137852832	31 SubmittersRCV000001396 RCV000114202 RCV000086298 RCV000531295 RCV000515339 RCV001073790 RCV000787813 RCV001261607 RCV001000092 RCV001002714 RCV001276487 RCV001542773 RCV001836689 RCV001815157 RCV001836688 RCV003147273 RCV004798711
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 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA252105	rs_387906273	5 SubmittersRCV000002210 RCV004589493
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 ALG9-related disorder	No Assertion Criteria Provided	CA252862	rs_121908023	2 SubmittersRCV000003947 RCV004754239
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 Condition: not provided DPM1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA118111	rs_121908583	4 SubmittersRCV000006676 RCV004719630 RCV004757948
NM_001164277.2(SLC37A4):c.148+1G>A	SNV Germline	Chr11:119029221	Pathogenic/Likely pathogenic	Glucose-6-phosphate transport defect Phosphate transport defect Congenital disorder of glycosylation, type IIw Glucose-6-phosphate transport defect Phosphate transport defect	Criteria Provided Multiple Submitters No Conflicts		rs_1943672400	4 SubmittersRCV000007344 RCV002496291 RCV002223174
NM_001164277.2(SLC37A4):c.83G>A (p.Arg28His)	SNV Germline	Chr11:119029287	Conflicting classifications of pathogenicity	Glucose-6-phosphate transport defect Condition: not provided Congenital disorder of glycosylation, type IIw Phosphate transport defect Glucose-6-phosphate transport defect	Criteria Provided Conflicting Classifications	CA219358	rs_121908978	9 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 Phosphate transport defect Congenital disorder of glycosylation, type IIw Glucose-6-phosphate transport defect Congenital disorder of glycosylation, type IIw	Criteria Provided Multiple Submitters No Conflicts	CA254006	rs_121908979	7 SubmittersRCV000007346 RCV001196429 RCV002496292 RCV003989281
NM_001164277.2(SLC37A4):c.1016G>A (p.Gly339Asp)	SNV Germline	Chr11:119025298	Pathogenic/Likely pathogenic	Glucose-6-phosphate transport defect Condition: not provided Glucose-6-phosphate transport defect Congenital disorder of glycosylation, type IIw 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 DPAGT1-congenital disorder of glycosylation Congenital myasthenic syndrome 13 Condition: not provided Congenital disorder of glycosylation	Criteria Provided Conflicting Classifications	CA256258	rs_28934876	4 SubmittersRCV000013090 RCV000694750 RCV001567586 RCV001291042
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 Abnormal glycosylation Global developmental delay Abnormal facial shape	Criteria Provided Multiple Submitters No Conflicts	CA249931	rs_730882218	3 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 Congenital disorder of glycosylation Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA277976	rs_151173406	7 SubmittersRCV000023496 RCV000851250 RCV001562717
NM_020751.3(COG6):c.1646G>T (p.Gly549Val)	SNV Germline	Chr13:39723394	Pathogenic	COG6-congenital disorder of glycosylation Condition: not provided	No Assertion Criteria Provided	CA129376	rs_387906959	3 SubmittersRCV000023603 RCV001701483
NM_001382.4(DPAGT1):c.349G>A (p.Val117Ile)	SNV Germline	Chr11:119100777	Likely pathogenic	Congenital myasthenic syndrome 13 DPAGT1-congenital disorder of glycosylation Congenital myasthenic syndrome 13	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 DPAGT1-congenital disorder of glycosylation Congenital myasthenic syndrome 13 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 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA130546	rs_397515423	4 SubmittersRCV000032991 RCV004719669
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 Congenital myasthenic syndrome 13 DPAGT1-congenital disorder of glycosylation 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 Glucose-6-phosphate transport defect 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 Phosphate transport defect Glucose-6-phosphate transport defect Congenital disorder of glycosylation, type IIw	Criteria Provided Multiple Submitters No Conflicts	CA219337	rs_193302881	9 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 Congenital disorder of glycosylation, type IIw Glucose-6-phosphate transport defect Phosphate transport defect	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 Glycogen storage disease type 1 due to SLC37A4 mutation Glucose-6-phosphate transport defect Congenital disorder of glycosylation, type IIw Glucose-6-phosphate transport defect Phosphate transport defect	Criteria Provided Multiple Submitters No Conflicts	CA219364	rs_193302903	7 SubmittersRCV000059146 RCV001813754 RCV001388583 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	ALG1-congenital disorder of glycosylation Condition: not provided	Criteria Provided Conflicting Classifications	CA223549	rs_398124347	2 SubmittersRCV001390958 RCV000081980
NM_019109.5(ALG1):c.1079C>T (p.Ala360Val)	SNV Germline	Chr16:5082565	Pathogenic/Likely pathogenic	Congenital disorder of glycosylation ALG1-congenital disorder of glycosylation Condition: not provided Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA223551	rs_398124348	6 SubmittersRCV000851230 RCV001795148 RCV000081981 RCV000210723
NM_019109.5(ALG1):c.1162C>T (p.Pro388Ser)	SNV Germline	Chr16:5082648	Conflicting classifications of pathogenicity	Congenital disorder of glycosylation ALG1-congenital disorder of glycosylation Condition: not provided	Criteria Provided Conflicting Classifications	CA223553	rs_398124349	3 SubmittersRCV000851242 RCV001857394 RCV000081983
NM_019109.5(ALG1):c.1187+1G>A	SNV Germline	Chr16:5082674	Pathogenic	Condition: not provided Congenital disorder of glycosylation ALG1-congenital disorder of glycosylation	Criteria Provided Multiple Submitters No Conflicts	CA223555	rs_374928784	5 SubmittersRCV000081984 RCV000851244 RCV002505001
NM_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	6 SubmittersRCV000593262 RCV001334177 RCV002490722
NM_024079.5(ALG8):c.122G>A (p.Arg41Gln)	SNV Germline	Chr11:78127410	Conflicting classifications of pathogenicity	ALG8 congenital disorder of glycosylation Condition: not provided	Criteria Provided Conflicting Classifications	CA223731	rs_398124391	2 SubmittersRCV004786359 RCV000082157
NM_024592.5(SRD5A3):c.57G>A (p.Trp19Ter)	SNV Germline	Chr4:55346393	Pathogenic	Condition: not provided SRD5A3-congenital disorder of glycosylation Congenital disorder of glycosylation Kahrizi syndrome Autism Cone dystrophy Global developmental delay Abnormality of the nervous system	Criteria Provided Multiple Submitters No Conflicts	CA223758	rs_398124401	14 SubmittersRCV000082197 RCV000173528 RCV000851211 RCV001542529 RCV001003586 RCV001814055
NM_024740.2(ALG9):c.694G>C (p.Ala232Pro)	SNV Germline	Chr11:111857609	Conflicting classifications of pathogenicity	Autosomal dominant polycystic liver disease ALG9 congenital disorder of glycosylation Gillessen-Kaesbach-Nishimura syndrome ALG9 congenital disorder of glycosylation See cases Condition: not provided	Criteria Provided Conflicting Classifications	CA223762	rs_36111204	8 SubmittersRCV000844763 RCV000764952 RCV001331340 RCV002251972 RCV000082208
NM_032382.5(COG8):c.1682C>T (p.Thr561Met)	SNV Germline	Chr16:69330996	Conflicting classifications of pathogenicity	Condition: not provided COG8-congenital disorder of glycosylation COG8-related disorder not specified	Criteria Provided Conflicting Classifications	CA223835	rs_143411142	4 SubmittersRCV000723761 RCV001317887 RCV003964945 RCV000082298
NM_153603.4(COG7):c.850A>T (p.Ile284Phe)	SNV Germline	Chr16:23424908	Conflicting classifications of pathogenicity	COG7 congenital disorder of glycosylation COG7-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA224200	rs_115605801	3 SubmittersRCV001397902 RCV003964948 RCV000082677
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 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA156391	rs_587777402	3 SubmittersRCV000119800 RCV004719696
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/Likely pathogenic	PGM1-congenital disorder of glycosylation Condition: not provided PGM1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA156393	rs_587777404	5 SubmittersRCV000119802 RCV004719697 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	Condition: not provided ATP6V0A2-related disorder not specified Cutis laxa with osteodystrophy ALG9 congenital disorder of glycosylation Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA208571	rs_143142641	10 SubmittersRCV000723907 RCV003895048 RCV000194414 RCV000322153 RCV001088927 RCV003338429
NM_020751.3(COG6):c.1167-24A>G	SNV Germline	Chr13:39699477	Pathogenic/Likely pathogenic	Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome Intellectual disability Hypohidrosis Condition: not provided COG6-related disorder COG6-congenital disorder of glycosylation	Criteria Provided Multiple Submitters No Conflicts	CA249958	rs_730882236	10 SubmittersRCV000050228 RCV000162165 RCV000322754 RCV000985030 RCV001251035
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 Condition: not provided SRD5A3-congenital disorder of glycosylation SRD5A3-related disorder	Criteria Provided Conflicting Classifications	CA238974	rs_201123766	4 SubmittersRCV000173526 RCV000724785 RCV001089144 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_020751.3(COG6):c.1693-12T>C	SNV Germline	Chr13:39724496	Conflicting classifications of pathogenicity	Condition: not provided Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome COG6-congenital disorder of glycosylation	Criteria Provided Conflicting Classifications	CA240949	rs_561776134	2 SubmittersRCV000175223 RCV002056932
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 ALG9 congenital disorder of glycosylation ATP6V0A2-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA241054	rs_150508296	7 SubmittersRCV000364298 RCV001087624 RCV003907567 RCV000724863
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 PGM1-related disorder	Criteria Provided Conflicting Classifications	CA247153	rs_145972303	4 SubmittersRCV000179849 RCV000344895 RCV000385150 RCV004734800
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	X-linked parkinsonism-spasticity syndrome Syndromic X-linked intellectual disability Hedera type Syndromic X-linked intellectual disability Hedera type Condition: not provided Inborn genetic diseases Congenital disorder of glycosylation, type IIr X-linked parkinsonism-spasticity syndrome Syndromic X-linked intellectual disability Hedera type	Criteria Provided Conflicting Classifications	CA313354	rs_142013283	4 SubmittersRCV000767901 RCV000640918 RCV001704969 RCV004020260 RCV003224203
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 Glucose-6-phosphate transport defect Congenital disorder of glycosylation, type IIw Phosphate transport defect SLC37A4-related disorder	Criteria Provided Conflicting Classifications	CA323754	rs_186476316	6 SubmittersRCV000199219 RCV001027800 RCV001084902 RCV003224223 RCV003955196
NM_001382.4(DPAGT1):c.584C>G (p.Ala195Gly)	SNV Germline	Chr11:119100321	Conflicting classifications of pathogenicity	DPAGT1-congenital disorder of glycosylation Congenital disorder of glycosylation Condition: not provided	Criteria Provided Conflicting Classifications	CA279840	rs_863225088	3 SubmittersRCV000202322 RCV001291450 RCV004589872
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 Condition: not provided Inborn genetic diseases MGAT2-related disorder	Criteria Provided Conflicting Classifications	CA248876	rs_140584714	6 SubmittersRCV000202676 RCV000864413 RCV001722114 RCV002515496 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 Congenital disorder of glycosylation type I ALG1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA211937	rs_369160589	14 SubmittersRCV000209837 RCV000413040 RCV000851246 RCV001526586 RCV003225934 RCV003417756
NM_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 NUS1-related disorder	Criteria Provided Conflicting Classifications	CA10586234	rs_886037858	5 SubmittersRCV000239673 RCV001253663 RCV001262137 RCV004701345
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 See cases Inborn genetic diseases Autosomal dominant polycystic liver disease ALG8 congenital disorder of glycosylation ALG8-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA6203220	rs_376161880	18 SubmittersRCV000356855 RCV000584794 RCV001535890 RCV002252077 RCV002519040 RCV003448977 RCV001843038 RCV004757187
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	COG8-congenital disorder of glycosylation Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA8133793	rs_142169776	4 SubmittersRCV000820727 RCV000725740 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	COG8-congenital disorder of glycosylation Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA8133807	rs_757877420	4 SubmittersRCV000381358 RCV000334221 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	Condition: not provided Congenital disorder of glycosylation ALG3-congenital disorder of glycosylation	Criteria Provided Conflicting Classifications	CA2729524	rs_201087932	3 SubmittersRCV000840746 RCV000392229 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	ALG3-congenital disorder of glycosylation not specified ALG3-related disorder	Criteria Provided Conflicting Classifications	CA2729374	rs_190571910	4 SubmittersRCV000960246 RCV000600812 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	Condition: not provided SRD5A3-congenital disorder of glycosylation SRD5A3-related disorder	Criteria Provided Conflicting Classifications	CA2925208	rs_199975696	4 SubmittersRCV001556869 RCV000892061 RCV003972471
NM_006765.4(TUSC3):c.768T>C (p.Tyr256=)	SNV Germline	Chr8:15673806	Conflicting classifications of pathogenicity	Congenital disorder of glycosylation Inborn genetic diseases Intellectual disability, autosomal recessive 7 not specified	Criteria Provided Conflicting Classifications	CA4640551	rs_149033081	4 SubmittersRCV000310777 RCV002317859 RCV000910759 RCV001821102
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 Congenital myasthenic syndrome 13 DPAGT1-congenital disorder of glycosylation	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 ALG8 congenital disorder of glycosylation Polycystic liver disease 3 with or without kidney cysts	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	Condition: not provided ALG9 congenital disorder of glycosylation ATP6V0A2-related disorder Cutis laxa with osteodystrophy	Criteria Provided Conflicting Classifications	CA6861539	rs_139785866	4 SubmittersRCV000884990 RCV002056276 RCV003967885 RCV000394202
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	Condition: not provided ALG9 congenital disorder of glycosylation ATP6V0A2-related disorder Cutis laxa with osteodystrophy	Criteria Provided Conflicting Classifications	CA6861784	rs_367873118	5 SubmittersRCV001697658 RCV002520795 RCV003897705 RCV000328554
NM_012463.4(ATP6V0A2):c.2014T>C (p.Leu672=)	SNV Germline	Chr12:123751188	Conflicting classifications of pathogenicity	Cutis laxa with osteodystrophy Condition: not provided ALG9 congenital disorder of glycosylation	Criteria Provided Conflicting Classifications	CA6862089	rs_367950442	3 SubmittersRCV000401678 RCV001718625 RCV000865321
NM_024740.2(ALG9):c.1660C>T (p.Arg554Trp)	SNV Germline	Chr11:111809716	Conflicting classifications of pathogenicity	Congenital disorder of glycosylation ALG9 congenital disorder of glycosylation Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA6274361	rs_782084496	3 SubmittersRCV000274374 RCV001850600 RCV004629180
NM_001164277.2(SLC37A4):c.492C>T (p.Ser164=)	SNV Germline	Chr11:119027762	Conflicting classifications of pathogenicity	not specified Glycogen storage disease, type I Glucose-6-phosphate transport defect Congenital disorder of glycosylation, type IIw Phosphate transport defect Glucose-6-phosphate transport defect Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA6311827	rs_369399624	6 SubmittersRCV001280604 RCV000392366 RCV000936549 RCV003224255 RCV004021499 RCV004597775
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 Congenital myasthenic syndrome 13 DPAGT1-congenital disorder of glycosylation	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_153603.4(COG7):c.1405A>G (p.Ile469Val)	SNV Germline	Chr16:23413452	Conflicting classifications of pathogenicity	COG7 congenital disorder of glycosylation Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7961002	rs_751036976	3 SubmittersRCV000342241 RCV004609356
NM_032382.5(COG8):c.903C>G (p.Pro301=)	SNV Germline	Chr16:69335031	Conflicting classifications of pathogenicity	not specified COG8-congenital disorder of glycosylation Condition: not provided	Criteria Provided Conflicting Classifications	CA8133836	rs_140736262	4 SubmittersRCV000434488 RCV000873067 RCV004721330
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 ALG8-related disorder	Criteria Provided Conflicting Classifications	CA6203184	rs_146603801	6 SubmittersRCV000734273 RCV001078924 RCV004757202
NM_020751.3(COG6):c.320A>T (p.Asp107Val)	SNV Germline	Chr13:39660832	Conflicting classifications of pathogenicity	COG6-congenital disorder of glycosylation Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome COG6-congenital disorder of glycosylation Condition: not provided COG6-related disorder	Criteria Provided Conflicting Classifications	CA6958275	rs_146229425	5 SubmittersRCV000379241 RCV000650373 RCV003144201 RCV004537768
NM_020751.3(COG6):c.729C>T (p.Asp243=)	SNV Germline	Chr13:39682205	Conflicting classifications of pathogenicity	COG6-congenital disorder of glycosylation not specified Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome COG6-congenital disorder of glycosylation Condition: not provided	Criteria Provided Conflicting Classifications	CA6958428	rs_117688574	4 SubmittersRCV000350561 RCV000436403 RCV000872577 RCV001726109
NM_020751.3(COG6):c.1075-12A>C	SNV Germline	Chr13:39694622	Conflicting classifications of pathogenicity	COG6-congenital disorder of glycosylation not specified Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome COG6-congenital disorder of glycosylation COG6-related disorder	Criteria Provided Conflicting Classifications	CA6958553	rs_370228676	4 SubmittersRCV000309527 RCV000438172 RCV002056388 RCV004544551
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 ALG9 congenital disorder of glycosylation Condition: not provided	Criteria Provided Conflicting Classifications	CA6861576	rs_563333869	3 SubmittersRCV000338336 RCV002056277 RCV000910841
NM_012463.4(ATP6V0A2):c.614C>T (p.Ala205Val)	SNV Germline	Chr12:123727875	Conflicting classifications of pathogenicity	ALG9 congenital disorder of glycosylation not specified Cutis laxa with osteodystrophy Wrinkly skin syndrome Cutis laxa with osteodystrophy Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA6861676	rs_143802431	6 SubmittersRCV000872211 RCV000493630 RCV000310903 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_020751.3(COG6):c.1947G>A (p.Pro649=)	SNV Germline	Chr13:39751066	Conflicting classifications of pathogenicity	COG6-congenital disorder of glycosylation not specified COG6-congenital disorder of glycosylation Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome	Criteria Provided Conflicting Classifications	CA6958853	rs_147311831	3 SubmittersRCV000350960 RCV000432627 RCV000871302
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 Condition: not provided	Criteria Provided Conflicting Classifications	CA10645404	rs_1011373	2 SubmittersRCV000273304 RCV001112128 RCV004721328
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 COG7-related disorder	Criteria Provided Conflicting Classifications	CA7961427	rs_149481813	4 SubmittersRCV000430425 RCV000951222 RCV004755873
NM_032382.5(COG8):c.1620A>C (p.Leu540=)	SNV Germline	Chr16:69331058	Conflicting classifications of pathogenicity	Congenital disorder of glycosylation Condition: not provided COG8-congenital disorder of glycosylation	Criteria Provided Conflicting Classifications	CA8133638	rs_189199610	3 SubmittersRCV000321381 RCV001712107 RCV000875958
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 not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA9909261	rs_117175017	5 SubmittersRCV000398073 RCV000494117 RCV000553888
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 SubmittersRCV001108107 RCV000872957 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	8 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 Congenital myasthenic syndrome 13 DPAGT1-congenital disorder of glycosylation 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 DPAGT1-congenital disorder of glycosylation Congenital myasthenic syndrome 13	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 DPAGT1-congenital disorder of glycosylation Congenital myasthenic syndrome 13 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 Wrinkly skin syndrome Cutis laxa with osteodystrophy ALG9 congenital disorder of glycosylation Cutis laxa with osteodystrophy	Criteria Provided Conflicting Classifications	CA6861598	rs_143509747	8 SubmittersRCV000423155 RCV000729905 RCV000763802 RCV001861625 RCV001113218
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 Condition: not provided DPM1-related disorder	Criteria Provided Conflicting Classifications	CA9909163	rs_780244460	5 SubmittersRCV000417491 RCV001137589 RCV003437192 RCV003942411
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	4 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_020751.3(COG6):c.1535T>G (p.Leu512Ter)	SNV Germline	Chr13:39719778	Pathogenic/Likely pathogenic	Condition: not provided Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome COG6-congenital disorder of glycosylation COG6-congenital disorder of glycosylation	Criteria Provided Multiple Submitters No Conflicts	CA388000657	rs_1292534396	3 SubmittersRCV000498315 RCV000763333 RCV001824809
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	ALG9 congenital disorder of glycosylation ALG9-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA6274470	rs_782372397	3 SubmittersRCV002527399 RCV003915420 RCV000513620
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	ALG9 congenital disorder of glycosylation not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA6862234	rs_139509075	3 SubmittersRCV000698250 RCV000518290 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	Congenital myasthenic syndrome 14 ALG2-congenital disorder of glycosylation 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_020751.3(COG6):c.388C>T (p.Gln130Ter)	SNV Germline	Chr13:39665114	Pathogenic	COG6-congenital disorder of glycosylation	Criteria Provided Single Submitter		rs_1259563970	1 SubmittersRCV000677237
NM_020751.3(COG6):c.1A>G (p.Met1Val)	SNV Germline	Chr13:39655727	Pathogenic	COG6-congenital disorder of glycosylation	Criteria Provided Single Submitter		rs_752232501	1 SubmittersRCV000677238
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 ALG8 congenital disorder of glycosylation Polycystic liver disease 3 with or without kidney cysts Condition: not provided ALG8-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA6203446	rs_762811727	6 SubmittersRCV000584773 RCV002506394 RCV003480705 RCV003596048
NM_020751.3(COG6):c.511C>T (p.Arg171Ter)	SNV Germline	Chr13:39677550	Pathogenic	COG6-congenital disorder of glycosylation COG6-congenital disorder of glycosylation Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA6958340	rs_200177031	5 SubmittersRCV000584833 RCV001853951 RCV002065124
NM_020751.3(COG6):c.785A>G (p.Tyr262Cys)	SNV Germline	Chr13:39682261	Pathogenic	COG6-congenital disorder of glycosylation	No Assertion Criteria Provided	CA387910301	rs_756826030	1 SubmittersRCV000584832
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	Condition: not provided ALG9 congenital disorder of glycosylation Cutis laxa with osteodystrophy	Criteria Provided Conflicting Classifications	CA6861538	rs_139785866	5 SubmittersRCV000726817 RCV001085019 RCV001113217
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 DPAGT1-congenital disorder of glycosylation Congenital myasthenic syndrome 13 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 Germline	Chr1:20654614	Pathogenic/Likely pathogenic	Congenital disorder of glycosylation type Ir	Criteria Provided Multiple Submitters No Conflicts	CA338851272	rs_867045420	2 SubmittersRCV000626165
NM_001382.4(DPAGT1):c.330C>T (p.Phe110=)	SNV Germline	Chr11:119100796	Conflicting classifications of pathogenicity	DPAGT1-congenital disorder of glycosylation Congenital myasthenic syndrome 13 DPAGT1-congenital disorder of glycosylation DPAGT1-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA6314657	rs_199994118	4 SubmittersRCV000650500 RCV001108109 RCV003965388 RCV004808830
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	Congenital myasthenic syndrome 13 DPAGT1-congenital disorder of glycosylation 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_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 Multiple Submitters No Conflicts		rs_768733117	2 SubmittersRCV000704546
NM_001382.4(DPAGT1):c.790G>A (p.Val264Met)	SNV Germline	Chr11:119097982	Conflicting classifications of pathogenicity	DPAGT1-congenital disorder of glycosylation Congenital myasthenic syndrome 13 Condition: not provided	Criteria Provided Conflicting Classifications		rs_745872044	4 SubmittersRCV000706293 RCV003144568
NM_001382.4(DPAGT1):c.360G>C (p.Leu120=)	SNV Germline	Chr11:119100766	Pathogenic	Congenital myasthenic syndrome 13 DPAGT1-congenital disorder of glycosylation	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 Condition: not provided not specified	Criteria Provided Conflicting Classifications		rs_144538512	3 SubmittersRCV000694248 RCV004704189 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	Microcephaly Cerebral visual impairment Osteopenia Global developmental delay Infantile spasms 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.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 not specified	Criteria Provided Conflicting Classifications		rs_528261173	3 SubmittersRCV000758003 RCV004782538
NM_001367916.1(MAGT1):c.972A>C (p.Lys324Asn)	SNV Germline	ChrX:77830825	Pathogenic	Congenital disorder of glycosylation, type ICC Congenital disorder of glycosylation	Criteria Provided Single Submitter		rs_373260156	2 SubmittersRCV000850166 RCV000767844
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 not specified	Criteria Provided Conflicting Classifications		rs_146171115	3 SubmittersRCV000792334 RCV003311889 RCV004768652
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 Glucose-6-phosphate transport defect 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	Congenital myasthenic syndrome 13 DPAGT1-congenital disorder of glycosylation	Criteria Provided Single Submitter		rs_1315559074	1 SubmittersRCV000792938
NM_003859.3(DPM1):c.1A>C (p.Met1Leu)	SNV Germline	Chr20:50958523	Pathogenic/Likely pathogenic	Congenital disorder of glycosylation type 1E Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_139624629	4 SubmittersRCV000821507 RCV004723245
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 COG7-related disorder	Criteria Provided Conflicting Classifications		rs_201446992	4 SubmittersRCV000813623 RCV002538169 RCV004756042
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	5 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	Condition: not provided ALG8 congenital disorder of glycosylation ALG8-related disorder	Criteria Provided Conflicting Classifications		rs_61995923	4 SubmittersRCV000870666 RCV003605697 RCV004538293
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_020751.3(COG6):c.358A>G (p.Ser120Gly)	SNV Germline	Chr13:39660870	Conflicting classifications of pathogenicity	COG6-congenital disorder of glycosylation Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome COG6-congenital disorder of glycosylation COG6-related disorder	Criteria Provided Conflicting Classifications		rs_139313781	4 SubmittersRCV000865144 RCV000989103 RCV004538230
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	5 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	5 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 Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_145684106	4 SubmittersRCV000872131 RCV003930393 RCV004639398
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_020751.3(COG6):c.1693-7T>A	SNV Germline	Chr13:39724501	Conflicting classifications of pathogenicity	COG6-congenital disorder of glycosylation Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome COG6-congenital disorder of glycosylation	Criteria Provided Conflicting Classifications		rs_34566895	2 SubmittersRCV000872384 RCV001113267
NM_020751.3(COG6):c.1645G>T (p.Gly549Cys)	SNV Germline	Chr13:39723393	Conflicting classifications of pathogenicity	Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome COG6-congenital disorder of glycosylation COG6-congenital disorder of glycosylation Condition: not provided	Criteria Provided Conflicting Classifications		rs_141114931	3 SubmittersRCV000954541 RCV003147568 RCV002508272
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_020751.3(COG6):c.1827-4A>G	SNV Germline	Chr13:39750942	Conflicting classifications of pathogenicity	Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome COG6-congenital disorder of glycosylation COG6-congenital disorder of glycosylation	Criteria Provided Conflicting Classifications		rs_375878630	2 SubmittersRCV000889370 RCV001114638
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 Condition: not provided	Criteria Provided Conflicting Classifications		rs_755467080	3 SubmittersRCV000916677 RCV004768743
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 ALG1-related disorder	Criteria Provided Conflicting Classifications		rs_145317306	4 SubmittersRCV000981645 RCV001576674 RCV002550564 RCV004754667
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_020751.3(COG6):c.154-2A>G	SNV Unknown	Chr13:39659362	Likely pathogenic	COG6-congenital disorder of glycosylation	Criteria Provided Single Submitter		rs_1593402927	1 SubmittersRCV000989102
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 SLC35A2-congenital disorder of glycosylation Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_373788556	3 SubmittersRCV000999414 RCV002068744 RCV002372724
NM_005660.3(SLC35A2):c.818G>C (p.Gly273Ala)	SNV Germline	ChrX:48905091	Conflicting classifications of pathogenicity	SLC35A2-congenital disorder of glycosylation Condition: not provided	Criteria Provided Conflicting Classifications		rs_1557042798	3 SubmittersRCV001049784 RCV000999415
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	Condition: not provided SLC35A2-congenital disorder of glycosylation	Criteria Provided Conflicting Classifications		rs_1557043621	2 SubmittersRCV000999418 RCV001488643
NM_005660.3(SLC35A2):c.92-7C>G	SNV Germline	ChrX:48910003	Conflicting classifications of pathogenicity	Condition: not provided SLC35A2-congenital disorder of glycosylation	Criteria Provided Conflicting Classifications		rs_1557043678	3 SubmittersRCV000999419 RCV001450426
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_020751.3(COG6):c.540G>A (p.Glu180=)	SNV Germline	Chr13:39677579	Likely pathogenic	COG6-congenital disorder of glycosylation	Criteria Provided Single Submitter		rs_1593418085	1 SubmittersRCV001030050
NM_033087.4(ALG2):c.20G>A (p.Arg7Gln)	SNV Germline	Chr9:99221875	Conflicting classifications of pathogenicity	ALG2-congenital disorder of glycosylation Congenital myasthenic syndrome 14 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 ALG8 congenital disorder of glycosylation Polycystic liver disease 3 with or without kidney cysts Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_756894409	3 SubmittersRCV001070562 RCV002489709 RCV004773292
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	Condition: not provided Cutis laxa with osteodystrophy ALG9 congenital disorder of glycosylation	Criteria Provided Conflicting Classifications		rs_182439983	3 SubmittersRCV001561688 RCV001114686 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_020751.3(COG6):c.1263T>C (p.His421=)	SNV Germline	Chr13:39699597	Conflicting classifications of pathogenicity	COG6-congenital disorder of glycosylation COG6-congenital disorder of glycosylation Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome	Criteria Provided Conflicting Classifications		rs_147295042	2 SubmittersRCV001111261 RCV002069796
NM_020751.3(COG6):c.*40A>G	SNV Germline	Chr13:39751133	Conflicting classifications of pathogenicity	COG6-congenital disorder of glycosylation Condition: not provided	Criteria Provided Conflicting Classifications		rs_185838939	2 SubmittersRCV001114640 RCV001785782
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	3 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	Congenital myasthenic syndrome 14 ALG2-congenital disorder of glycosylation 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	ALG9 congenital disorder of glycosylation Condition: not provided	Criteria Provided Conflicting Classifications		rs_771839087	2 SubmittersRCV001216411 RCV001760196
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_138459.5(NUS1):c.579G>A (p.Pro193=)	SNV Germline	Chr6:117694068	Conflicting classifications of pathogenicity	Congenital disorder of glycosylation, type IAA Condition: not provided	Criteria Provided Conflicting Classifications		rs_753713015	2 SubmittersRCV001240313 RCV004692295
NM_019109.5(ALG1):c.95C>A (p.Ala32Asp)	SNV Germline	Chr16:5071944	Conflicting classifications of pathogenicity	ALG1-congenital disorder of glycosylation Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_376723766	2 SubmittersRCV001245204 RCV004978201
NM_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	4 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.349C>T (p.Arg117Ter)	SNV Germline	Chr3:184245563	Conflicting classifications of pathogenicity	Condition: not provided ALG3-congenital disorder of glycosylation	Criteria Provided Conflicting Classifications		rs_753238253	3 SubmittersRCV001269547 RCV004584871
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 Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_781882781	3 SubmittersRCV001291763 RCV001499822 RCV004987025
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 Phosphate transport defect Congenital disorder of glycosylation, type IIw 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_001006941.2(ALG3):c.46G>T (p.Gly16Trp)	SNV Germline	Chr3:184249232	Conflicting classifications of pathogenicity	ALG3-congenital disorder of glycosylation Condition: not provided	Criteria Provided Conflicting Classifications		rs_373046727	3 SubmittersRCV001335520 RCV004692570
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 PGM1-related disorder	Criteria Provided Multiple Submitters No Conflicts		rs_777164338	3 SubmittersRCV001378469 RCV004734161
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	5 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 Multiple Submitters No Conflicts		rs_2123115725	2 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	4 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.521A>G (p.Asn174Ser)	SNV Germline	Chr3:184245282	Likely pathogenic	ALG3-congenital disorder of glycosylation	Criteria Provided Multiple Submitters No Conflicts		rs_1719068613	3 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 Phosphate transport defect Congenital disorder of glycosylation, type IIw Glucose-6-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_024592.5(SRD5A3):c.869T>C (p.Leu290Pro)	SNV Germline	Chr4:55370003	Conflicting classifications of pathogenicity	Condition: not provided SRD5A3-congenital disorder of glycosylation	Criteria Provided Conflicting Classifications		rs_2109489105	2 SubmittersRCV001761328 RCV004594585
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 ALG9-associated autosomal dominant polycystic kidney disease	Criteria Provided Conflicting Classifications		rs_782775735	3 SubmittersRCV001771540 RCV002471150 RCV004785307
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	Pathogenic/Likely pathogenic	Congenital disorder of glycosylation, type Iw, autosomal dominant STT3A-congenital disorder of glycosylation	Criteria Provided Multiple Submitters No Conflicts		rs_780062429	3 SubmittersRCV001815050 RCV004785323
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 ALG8-related disorder	Criteria Provided Single Submitter		rs_748962880	2 SubmittersRCV001829280 RCV004731186
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_032382.5(COG8):c.416G>A (p.Arg139His)	SNV Germline	Chr16:69336674	Conflicting classifications of pathogenicity	COG8-congenital disorder of glycosylation Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_762499740	2 SubmittersRCV001928557 RCV004611992
NM_019109.5(ALG1):c.560G>A (p.Arg187His)	SNV Germline	Chr16:5077465	Conflicting classifications of pathogenicity	ALG1-congenital disorder of glycosylation Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_377600706	3 SubmittersRCV001967816 RCV004043131
NM_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_020751.3(COG6):c.1585-2A>G	SNV Germline	Chr13:39723331	Likely pathogenic	COG6-congenital disorder of glycosylation Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome	Criteria Provided Single Submitter		rs_200812708	1 SubmittersRCV002049998
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_012463.4(ATP6V0A2):c.187C>T (p.Arg63Ter)

SNV
Germline

Chr12:123718692

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA223052

rs_80356750

5 SubmittersRCV000000888 RCV000790836 RCV004579513 RCV003502506

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
Familial aplasia of the vermis
Nephronophthisis
Meckel-Gruber syndrome
Bardet-Biedl syndrome 14
Joubert syndrome 5
Leber congenital amaurosis 10
Meckel syndrome, type 4
Senior-Loken syndrome 6
Retinal dystrophy
Retinitis pigmentosa
Meckel syndrome, type 6
Meckel syndrome, type 4
Joubert syndrome 5
Senior-Loken syndrome 6
Leber congenital amaurosis
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
CEP290-related disorder
Leber congenital amaurosis 10

Criteria Provided
Multiple Submitters
No Conflicts

CA150917

rs_137852832

31 SubmittersRCV000001396 RCV000114202 RCV000086298 RCV000531295 RCV000515339 RCV001073790 RCV000787813 RCV001261607 RCV001000092 RCV001002714 RCV001276487 RCV001542773 RCV001836689 RCV001815157 RCV001836688 RCV003147273 RCV004798711

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
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA252105

rs_387906273

5 SubmittersRCV000002210 RCV004589493

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
ALG9-related disorder

No Assertion Criteria Provided

CA252862

rs_121908023

2 SubmittersRCV000003947 RCV004754239

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
Condition: not provided
DPM1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA118111

rs_121908583

4 SubmittersRCV000006676 RCV004719630 RCV004757948

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

SNV
Germline

Chr11:119029221

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1943672400

4 SubmittersRCV000007344 RCV002496291 RCV002223174

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

SNV
Germline

Chr11:119029287

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA219358

rs_121908978

9 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
Phosphate transport defect
Congenital disorder of glycosylation, type IIw
Glucose-6-phosphate transport defect
Congenital disorder of glycosylation, type IIw

Criteria Provided
Multiple Submitters
No Conflicts

CA254006

rs_121908979

7 SubmittersRCV000007346 RCV001196429 RCV002496292 RCV003989281

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

SNV
Germline

Chr11:119025298

Pathogenic/Likely pathogenic

Glucose-6-phosphate transport defect
Condition: not provided
Glucose-6-phosphate transport defect
Congenital disorder of glycosylation, type IIw
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
DPAGT1-congenital disorder of glycosylation
Congenital myasthenic syndrome 13
Condition: not provided
Congenital disorder of glycosylation

Criteria Provided
Conflicting Classifications

CA256258

rs_28934876

4 SubmittersRCV000013090 RCV000694750 RCV001567586 RCV001291042

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
Abnormal glycosylation
Global developmental delay
Abnormal facial shape

Criteria Provided
Multiple Submitters
No Conflicts

CA249931

rs_730882218

3 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
Congenital disorder of glycosylation
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA277976

rs_151173406

7 SubmittersRCV000023496 RCV000851250 RCV001562717

NM_020751.3(COG6):c.1646G>T (p.Gly549Val)

SNV
Germline

Chr13:39723394

Pathogenic

COG6-congenital disorder of glycosylation
Condition: not provided

No Assertion Criteria Provided

CA129376

rs_387906959

3 SubmittersRCV000023603 RCV001701483

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

SNV
Germline

Chr11:119100777

Likely pathogenic

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

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

Criteria Provided
Multiple Submitters
No Conflicts

CA130546

rs_397515423

4 SubmittersRCV000032991 RCV004719669

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
Congenital myasthenic syndrome 13
DPAGT1-congenital disorder of glycosylation
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
Glucose-6-phosphate transport defect
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
Phosphate transport defect
Glucose-6-phosphate transport defect
Congenital disorder of glycosylation, type IIw

Criteria Provided
Multiple Submitters
No Conflicts

CA219337

rs_193302881

9 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
Congenital disorder of glycosylation, type IIw
Glucose-6-phosphate transport defect
Phosphate transport defect

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
Glycogen storage disease type 1 due to SLC37A4 mutation
Glucose-6-phosphate transport defect
Congenital disorder of glycosylation, type IIw
Glucose-6-phosphate transport defect
Phosphate transport defect

Criteria Provided
Multiple Submitters
No Conflicts

CA219364

rs_193302903

7 SubmittersRCV000059146 RCV001813754 RCV001388583 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

ALG1-congenital disorder of glycosylation
Condition: not provided

Criteria Provided
Conflicting Classifications

CA223549

rs_398124347

2 SubmittersRCV001390958 RCV000081980

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

SNV
Germline

Chr16:5082565

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA223551

rs_398124348

6 SubmittersRCV000851230 RCV001795148 RCV000081981 RCV000210723

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

SNV
Germline

Chr16:5082648

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA223553

rs_398124349

3 SubmittersRCV000851242 RCV001857394 RCV000081983

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

SNV
Germline

Chr16:5082674

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA223555

rs_374928784

5 SubmittersRCV000081984 RCV000851244 RCV002505001

NM_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

6 SubmittersRCV000593262 RCV001334177 RCV002490722

NM_024079.5(ALG8):c.122G>A (p.Arg41Gln)

SNV
Germline

Chr11:78127410

Conflicting classifications of pathogenicity

ALG8 congenital disorder of glycosylation
Condition: not provided

Criteria Provided
Conflicting Classifications

CA223731

rs_398124391

2 SubmittersRCV004786359 RCV000082157

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

SNV
Germline

Chr4:55346393

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA223758

rs_398124401

14 SubmittersRCV000082197 RCV000173528 RCV000851211 RCV001542529 RCV001003586 RCV001814055

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

SNV
Germline

Chr11:111857609

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA223762

rs_36111204

8 SubmittersRCV000844763 RCV000764952 RCV001331340 RCV002251972 RCV000082208

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

SNV
Germline

Chr16:69330996

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA223835

rs_143411142

4 SubmittersRCV000723761 RCV001317887 RCV003964945 RCV000082298

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

SNV
Germline

Chr16:23424908

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA224200

rs_115605801

3 SubmittersRCV001397902 RCV003964948 RCV000082677

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
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA156391

rs_587777402

3 SubmittersRCV000119800 RCV004719696

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/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA156393

rs_587777404

5 SubmittersRCV000119802 RCV004719697 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

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

Criteria Provided
Conflicting Classifications

CA208571

rs_143142641

10 SubmittersRCV000723907 RCV003895048 RCV000194414 RCV000322153 RCV001088927 RCV003338429

NM_020751.3(COG6):c.1167-24A>G

SNV
Germline

Chr13:39699477

Pathogenic/Likely pathogenic

Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
Intellectual disability
Hypohidrosis
Condition: not provided
COG6-related disorder
COG6-congenital disorder of glycosylation

Criteria Provided
Multiple Submitters
No Conflicts

CA249958

rs_730882236

10 SubmittersRCV000050228 RCV000162165 RCV000322754 RCV000985030 RCV001251035

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

Criteria Provided
Conflicting Classifications

CA238974

rs_201123766

4 SubmittersRCV000173526 RCV000724785 RCV001089144 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_020751.3(COG6):c.1693-12T>C

SNV
Germline

Chr13:39724496

Conflicting classifications of pathogenicity

Condition: not provided
Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
COG6-congenital disorder of glycosylation

Criteria Provided
Conflicting Classifications

CA240949

rs_561776134

2 SubmittersRCV000175223 RCV002056932

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

Criteria Provided
Conflicting Classifications

CA241054

rs_150508296

7 SubmittersRCV000364298 RCV001087624 RCV003907567 RCV000724863

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
PGM1-related disorder

Criteria Provided
Conflicting Classifications

CA247153

rs_145972303

4 SubmittersRCV000179849 RCV000344895 RCV000385150 RCV004734800

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

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

Criteria Provided
Conflicting Classifications

CA313354

rs_142013283

4 SubmittersRCV000767901 RCV000640918 RCV001704969 RCV004020260 RCV003224203

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
Glucose-6-phosphate transport defect
Congenital disorder of glycosylation, type IIw
Phosphate transport defect
SLC37A4-related disorder

Criteria Provided
Conflicting Classifications

CA323754

rs_186476316

6 SubmittersRCV000199219 RCV001027800 RCV001084902 RCV003224223 RCV003955196

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

SNV
Germline

Chr11:119100321

Conflicting classifications of pathogenicity

DPAGT1-congenital disorder of glycosylation
Congenital disorder of glycosylation
Condition: not provided

Criteria Provided
Conflicting Classifications

CA279840

rs_863225088

3 SubmittersRCV000202322 RCV001291450 RCV004589872

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
Condition: not provided
Inborn genetic diseases
MGAT2-related disorder

Criteria Provided
Conflicting Classifications

CA248876

rs_140584714

6 SubmittersRCV000202676 RCV000864413 RCV001722114 RCV002515496 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
Congenital disorder of glycosylation type I
ALG1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA211937

rs_369160589

14 SubmittersRCV000209837 RCV000413040 RCV000851246 RCV001526586 RCV003225934 RCV003417756

NM_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
NUS1-related disorder

Criteria Provided
Conflicting Classifications

CA10586234

rs_886037858

5 SubmittersRCV000239673 RCV001253663 RCV001262137 RCV004701345

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
See cases
Inborn genetic diseases
Autosomal dominant polycystic liver disease
ALG8 congenital disorder of glycosylation
ALG8-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA6203220

rs_376161880

18 SubmittersRCV000356855 RCV000584794 RCV001535890 RCV002252077 RCV002519040 RCV003448977 RCV001843038 RCV004757187

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

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

Criteria Provided
Conflicting Classifications

CA8133793

rs_142169776

4 SubmittersRCV000820727 RCV000725740 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

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

Criteria Provided
Conflicting Classifications

CA8133807

rs_757877420

4 SubmittersRCV000381358 RCV000334221 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

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

Criteria Provided
Conflicting Classifications

CA2729524

rs_201087932

3 SubmittersRCV000840746 RCV000392229 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

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

Criteria Provided
Conflicting Classifications

CA2729374

rs_190571910

4 SubmittersRCV000960246 RCV000600812 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

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

Criteria Provided
Conflicting Classifications

CA2925208

rs_199975696

4 SubmittersRCV001556869 RCV000892061 RCV003972471

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

SNV
Germline

Chr8:15673806

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA4640551

rs_149033081

4 SubmittersRCV000310777 RCV002317859 RCV000910759 RCV001821102

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
Congenital myasthenic syndrome 13
DPAGT1-congenital disorder of glycosylation

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

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

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

Criteria Provided
Conflicting Classifications

CA6861539

rs_139785866

4 SubmittersRCV000884990 RCV002056276 RCV003967885 RCV000394202

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

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

Criteria Provided
Conflicting Classifications

CA6861784

rs_367873118

5 SubmittersRCV001697658 RCV002520795 RCV003897705 RCV000328554

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

SNV
Germline

Chr12:123751188

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6862089

rs_367950442

3 SubmittersRCV000401678 RCV001718625 RCV000865321

NM_024740.2(ALG9):c.1660C>T (p.Arg554Trp)

SNV
Germline

Chr11:111809716

Conflicting classifications of pathogenicity

Congenital disorder of glycosylation
ALG9 congenital disorder of glycosylation
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6274361

rs_782084496

3 SubmittersRCV000274374 RCV001850600 RCV004629180

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

SNV
Germline

Chr11:119027762

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6311827

rs_369399624

6 SubmittersRCV001280604 RCV000392366 RCV000936549 RCV003224255 RCV004021499 RCV004597775

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
Congenital myasthenic syndrome 13
DPAGT1-congenital disorder of glycosylation

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_153603.4(COG7):c.1405A>G (p.Ile469Val)

SNV
Germline

Chr16:23413452

Conflicting classifications of pathogenicity

COG7 congenital disorder of glycosylation
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7961002

rs_751036976

3 SubmittersRCV000342241 RCV004609356

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

SNV
Germline

Chr16:69335031

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA8133836

rs_140736262

4 SubmittersRCV000434488 RCV000873067 RCV004721330

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
ALG8-related disorder

Criteria Provided
Conflicting Classifications

CA6203184

rs_146603801

6 SubmittersRCV000734273 RCV001078924 RCV004757202

NM_020751.3(COG6):c.320A>T (p.Asp107Val)

SNV
Germline

Chr13:39660832

Conflicting classifications of pathogenicity

COG6-congenital disorder of glycosylation
Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
COG6-congenital disorder of glycosylation
Condition: not provided
COG6-related disorder

Criteria Provided
Conflicting Classifications

CA6958275

rs_146229425

5 SubmittersRCV000379241 RCV000650373 RCV003144201 RCV004537768

NM_020751.3(COG6):c.729C>T (p.Asp243=)

SNV
Germline

Chr13:39682205

Conflicting classifications of pathogenicity

COG6-congenital disorder of glycosylation
not specified
Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
COG6-congenital disorder of glycosylation
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6958428

rs_117688574

4 SubmittersRCV000350561 RCV000436403 RCV000872577 RCV001726109

NM_020751.3(COG6):c.1075-12A>C

SNV
Germline

Chr13:39694622

Conflicting classifications of pathogenicity

COG6-congenital disorder of glycosylation
not specified
Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
COG6-congenital disorder of glycosylation
COG6-related disorder

Criteria Provided
Conflicting Classifications

CA6958553

rs_370228676

4 SubmittersRCV000309527 RCV000438172 RCV002056388 RCV004544551

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
ALG9 congenital disorder of glycosylation
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6861576

rs_563333869

3 SubmittersRCV000338336 RCV002056277 RCV000910841

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

SNV
Germline

Chr12:123727875

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6861676

rs_143802431

6 SubmittersRCV000872211 RCV000493630 RCV000310903 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_020751.3(COG6):c.1947G>A (p.Pro649=)

SNV
Germline

Chr13:39751066

Conflicting classifications of pathogenicity

COG6-congenital disorder of glycosylation
not specified
COG6-congenital disorder of glycosylation
Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome

Criteria Provided
Conflicting Classifications

CA6958853

rs_147311831

3 SubmittersRCV000350960 RCV000432627 RCV000871302

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
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10645404

rs_1011373

2 SubmittersRCV000273304 RCV001112128 RCV004721328

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
COG7-related disorder

Criteria Provided
Conflicting Classifications

CA7961427

rs_149481813

4 SubmittersRCV000430425 RCV000951222 RCV004755873

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

SNV
Germline

Chr16:69331058

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA8133638

rs_189199610

3 SubmittersRCV000321381 RCV001712107 RCV000875958

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
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9909261

rs_117175017

5 SubmittersRCV000398073 RCV000494117 RCV000553888

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 SubmittersRCV001108107 RCV000872957 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

8 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
Congenital myasthenic syndrome 13
DPAGT1-congenital disorder of glycosylation
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
DPAGT1-congenital disorder of glycosylation
Congenital myasthenic syndrome 13

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
DPAGT1-congenital disorder of glycosylation
Congenital myasthenic syndrome 13
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
Wrinkly skin syndrome
Cutis laxa with osteodystrophy
ALG9 congenital disorder of glycosylation
Cutis laxa with osteodystrophy

Criteria Provided
Conflicting Classifications

CA6861598

rs_143509747

8 SubmittersRCV000423155 RCV000729905 RCV000763802 RCV001861625 RCV001113218

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
Condition: not provided
DPM1-related disorder

Criteria Provided
Conflicting Classifications

CA9909163

rs_780244460

5 SubmittersRCV000417491 RCV001137589 RCV003437192 RCV003942411

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

4 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_020751.3(COG6):c.1535T>G (p.Leu512Ter)

SNV
Germline

Chr13:39719778

Pathogenic/Likely pathogenic

Condition: not provided
Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
COG6-congenital disorder of glycosylation
COG6-congenital disorder of glycosylation

Criteria Provided
Multiple Submitters
No Conflicts

CA388000657

rs_1292534396

3 SubmittersRCV000498315 RCV000763333 RCV001824809

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

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

Criteria Provided
Conflicting Classifications

CA6274470

rs_782372397

3 SubmittersRCV002527399 RCV003915420 RCV000513620

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

ALG9 congenital disorder of glycosylation
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6862234

rs_139509075

3 SubmittersRCV000698250 RCV000518290 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

Congenital myasthenic syndrome 14
ALG2-congenital disorder of glycosylation
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_020751.3(COG6):c.388C>T (p.Gln130Ter)

SNV
Germline

Chr13:39665114

Pathogenic

COG6-congenital disorder of glycosylation

Criteria Provided
Single Submitter

rs_1259563970

1 SubmittersRCV000677237

NM_020751.3(COG6):c.1A>G (p.Met1Val)

SNV
Germline

Chr13:39655727

Pathogenic

COG6-congenital disorder of glycosylation

Criteria Provided
Single Submitter

rs_752232501

1 SubmittersRCV000677238

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

Criteria Provided
Multiple Submitters
No Conflicts

CA6203446

rs_762811727

6 SubmittersRCV000584773 RCV002506394 RCV003480705 RCV003596048

NM_020751.3(COG6):c.511C>T (p.Arg171Ter)

SNV
Germline

Chr13:39677550

Pathogenic

COG6-congenital disorder of glycosylation
COG6-congenital disorder of glycosylation
Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA6958340

rs_200177031

5 SubmittersRCV000584833 RCV001853951 RCV002065124

NM_020751.3(COG6):c.785A>G (p.Tyr262Cys)

SNV
Germline

Chr13:39682261

Pathogenic

COG6-congenital disorder of glycosylation

No Assertion Criteria Provided

CA387910301

rs_756826030

1 SubmittersRCV000584832

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

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

Criteria Provided
Conflicting Classifications

CA6861538

rs_139785866

5 SubmittersRCV000726817 RCV001085019 RCV001113217

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
DPAGT1-congenital disorder of glycosylation
Congenital myasthenic syndrome 13
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
Germline

Chr1:20654614

Pathogenic/Likely pathogenic

Congenital disorder of glycosylation type Ir

Criteria Provided
Multiple Submitters
No Conflicts

CA338851272

rs_867045420

2 SubmittersRCV000626165

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

SNV
Germline

Chr11:119100796

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6314657

rs_199994118

4 SubmittersRCV000650500 RCV001108109 RCV003965388 RCV004808830

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

Congenital myasthenic syndrome 13
DPAGT1-congenital disorder of glycosylation
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_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
Multiple Submitters
No Conflicts

rs_768733117

2 SubmittersRCV000704546

NM_001382.4(DPAGT1):c.790G>A (p.Val264Met)

SNV
Germline

Chr11:119097982

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_745872044

4 SubmittersRCV000706293 RCV003144568

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

SNV
Germline

Chr11:119100766

Pathogenic

Congenital myasthenic syndrome 13
DPAGT1-congenital disorder of glycosylation

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
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

rs_144538512

3 SubmittersRCV000694248 RCV004704189 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

Microcephaly
Cerebral visual impairment
Osteopenia
Global developmental delay
Infantile spasms
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.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
not specified

Criteria Provided
Conflicting Classifications

rs_528261173

3 SubmittersRCV000758003 RCV004782538

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

SNV
Germline

ChrX:77830825

Pathogenic

Congenital disorder of glycosylation, type ICC
Congenital disorder of glycosylation

Criteria Provided
Single Submitter

rs_373260156

2 SubmittersRCV000850166 RCV000767844

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
not specified

Criteria Provided
Conflicting Classifications

rs_146171115

3 SubmittersRCV000792334 RCV003311889 RCV004768652

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
Glucose-6-phosphate transport defect
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

Congenital myasthenic syndrome 13
DPAGT1-congenital disorder of glycosylation

Criteria Provided
Single Submitter

rs_1315559074

1 SubmittersRCV000792938

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

SNV
Germline

Chr20:50958523

Pathogenic/Likely pathogenic

Congenital disorder of glycosylation type 1E
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_139624629

4 SubmittersRCV000821507 RCV004723245

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
COG7-related disorder

Criteria Provided
Conflicting Classifications

rs_201446992

4 SubmittersRCV000813623 RCV002538169 RCV004756042

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

5 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

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

Criteria Provided
Conflicting Classifications

rs_61995923

4 SubmittersRCV000870666 RCV003605697 RCV004538293

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_020751.3(COG6):c.358A>G (p.Ser120Gly)

SNV
Germline

Chr13:39660870

Conflicting classifications of pathogenicity

COG6-congenital disorder of glycosylation
Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
COG6-congenital disorder of glycosylation
COG6-related disorder

Criteria Provided
Conflicting Classifications

rs_139313781

4 SubmittersRCV000865144 RCV000989103 RCV004538230

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

5 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

5 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
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_145684106

4 SubmittersRCV000872131 RCV003930393 RCV004639398

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_020751.3(COG6):c.1693-7T>A

SNV
Germline

Chr13:39724501

Conflicting classifications of pathogenicity

COG6-congenital disorder of glycosylation
Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
COG6-congenital disorder of glycosylation

Criteria Provided
Conflicting Classifications

rs_34566895

2 SubmittersRCV000872384 RCV001113267

NM_020751.3(COG6):c.1645G>T (p.Gly549Cys)

SNV
Germline

Chr13:39723393

Conflicting classifications of pathogenicity

Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
COG6-congenital disorder of glycosylation
COG6-congenital disorder of glycosylation
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_141114931

3 SubmittersRCV000954541 RCV003147568 RCV002508272

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_020751.3(COG6):c.1827-4A>G

SNV
Germline

Chr13:39750942

Conflicting classifications of pathogenicity

Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
COG6-congenital disorder of glycosylation
COG6-congenital disorder of glycosylation

Criteria Provided
Conflicting Classifications

rs_375878630

2 SubmittersRCV000889370 RCV001114638

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
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_755467080

3 SubmittersRCV000916677 RCV004768743

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
ALG1-related disorder

Criteria Provided
Conflicting Classifications

rs_145317306

4 SubmittersRCV000981645 RCV001576674 RCV002550564 RCV004754667

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_020751.3(COG6):c.154-2A>G

SNV
Unknown

Chr13:39659362

Likely pathogenic

COG6-congenital disorder of glycosylation

Criteria Provided
Single Submitter

rs_1593402927

1 SubmittersRCV000989102

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
SLC35A2-congenital disorder of glycosylation
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_373788556

3 SubmittersRCV000999414 RCV002068744 RCV002372724

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

SNV
Germline

ChrX:48905091

Conflicting classifications of pathogenicity

SLC35A2-congenital disorder of glycosylation
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1557042798

3 SubmittersRCV001049784 RCV000999415

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

Condition: not provided
SLC35A2-congenital disorder of glycosylation

Criteria Provided
Conflicting Classifications

rs_1557043621

2 SubmittersRCV000999418 RCV001488643

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

SNV
Germline

ChrX:48910003

Conflicting classifications of pathogenicity

Condition: not provided
SLC35A2-congenital disorder of glycosylation

Criteria Provided
Conflicting Classifications

rs_1557043678

3 SubmittersRCV000999419 RCV001450426

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_020751.3(COG6):c.540G>A (p.Glu180=)

SNV
Germline

Chr13:39677579

Likely pathogenic

COG6-congenital disorder of glycosylation

Criteria Provided
Single Submitter

rs_1593418085

1 SubmittersRCV001030050

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

SNV
Germline

Chr9:99221875

Conflicting classifications of pathogenicity

ALG2-congenital disorder of glycosylation
Congenital myasthenic syndrome 14
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
ALG8 congenital disorder of glycosylation
Polycystic liver disease 3 with or without kidney cysts
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_756894409

3 SubmittersRCV001070562 RCV002489709 RCV004773292

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

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

Criteria Provided
Conflicting Classifications

rs_182439983

3 SubmittersRCV001561688 RCV001114686 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_020751.3(COG6):c.1263T>C (p.His421=)

SNV
Germline

Chr13:39699597

Conflicting classifications of pathogenicity

COG6-congenital disorder of glycosylation
COG6-congenital disorder of glycosylation
Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome

Criteria Provided
Conflicting Classifications

rs_147295042

2 SubmittersRCV001111261 RCV002069796

NM_020751.3(COG6):c.*40A>G

SNV
Germline

Chr13:39751133

Conflicting classifications of pathogenicity

COG6-congenital disorder of glycosylation
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_185838939

2 SubmittersRCV001114640 RCV001785782

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

3 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

Congenital myasthenic syndrome 14
ALG2-congenital disorder of glycosylation
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

ALG9 congenital disorder of glycosylation
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_771839087

2 SubmittersRCV001216411 RCV001760196

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_138459.5(NUS1):c.579G>A (p.Pro193=)

SNV
Germline

Chr6:117694068

Conflicting classifications of pathogenicity

Congenital disorder of glycosylation, type IAA
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_753713015

2 SubmittersRCV001240313 RCV004692295

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

SNV
Germline

Chr16:5071944

Conflicting classifications of pathogenicity

ALG1-congenital disorder of glycosylation
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_376723766

2 SubmittersRCV001245204 RCV004978201

NM_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

4 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.349C>T (p.Arg117Ter)

SNV
Germline

Chr3:184245563

Conflicting classifications of pathogenicity

Condition: not provided
ALG3-congenital disorder of glycosylation

Criteria Provided
Conflicting Classifications

rs_753238253

3 SubmittersRCV001269547 RCV004584871

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
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_781882781

3 SubmittersRCV001291763 RCV001499822 RCV004987025

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
Phosphate transport defect
Congenital disorder of glycosylation, type IIw
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_001006941.2(ALG3):c.46G>T (p.Gly16Trp)

SNV
Germline

Chr3:184249232

Conflicting classifications of pathogenicity

ALG3-congenital disorder of glycosylation
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_373046727

3 SubmittersRCV001335520 RCV004692570

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
PGM1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

rs_777164338

3 SubmittersRCV001378469 RCV004734161

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

5 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
Multiple Submitters
No Conflicts

rs_2123115725

2 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

4 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.521A>G (p.Asn174Ser)

SNV
Germline

Chr3:184245282

Likely pathogenic

ALG3-congenital disorder of glycosylation

Criteria Provided
Multiple Submitters
No Conflicts

rs_1719068613

3 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
Phosphate transport defect
Congenital disorder of glycosylation, type IIw
Glucose-6-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_024592.5(SRD5A3):c.869T>C (p.Leu290Pro)

SNV
Germline

Chr4:55370003

Conflicting classifications of pathogenicity

Condition: not provided
SRD5A3-congenital disorder of glycosylation

Criteria Provided
Conflicting Classifications

rs_2109489105

2 SubmittersRCV001761328 RCV004594585

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
ALG9-associated autosomal dominant polycystic kidney disease

Criteria Provided
Conflicting Classifications

rs_782775735

3 SubmittersRCV001771540 RCV002471150 RCV004785307

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

Pathogenic/Likely pathogenic

Congenital disorder of glycosylation, type Iw, autosomal dominant
STT3A-congenital disorder of glycosylation

Criteria Provided
Multiple Submitters
No Conflicts

rs_780062429

3 SubmittersRCV001815050 RCV004785323

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
ALG8-related disorder

Criteria Provided
Single Submitter

rs_748962880

2 SubmittersRCV001829280 RCV004731186

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_032382.5(COG8):c.416G>A (p.Arg139His)

SNV
Germline

Chr16:69336674

Conflicting classifications of pathogenicity

COG8-congenital disorder of glycosylation
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_762499740

2 SubmittersRCV001928557 RCV004611992

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

SNV
Germline

Chr16:5077465

Conflicting classifications of pathogenicity

ALG1-congenital disorder of glycosylation
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_377600706

3 SubmittersRCV001967816 RCV004043131

NM_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_020751.3(COG6):c.1585-2A>G

SNV
Germline

Chr13:39723331

Likely pathogenic

COG6-congenital disorder of glycosylation
Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome

Criteria Provided
Single Submitter

rs_200812708

1 SubmittersRCV002049998

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
not specified
Congenital disorder of glycosylation

Criteria Provided
Conflicting Classifications

rs_778368053

3 SubmittersRCV001998830 RCV003987953 RCV002227574

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
ALG9-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

rs_782379446

3 SubmittersRCV002031468 RCV002498081 RCV004754832

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_019109.5(ALG1):c.932A>G (p.Asn311Ser)

SNV
Germline

Chr16:5079778

Conflicting classifications of pathogenicity

ALG1-congenital disorder of glycosylation
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_549071467

2 SubmittersRCV001903350 RCV004975802

NM_005216.5(DDOST):c.10A>G (p.Ser4Gly)

SNV
Germline

Chr1:20661341

Conflicting classifications of pathogenicity

Congenital disorder of glycosylation type Ir
not specified

Criteria Provided
Conflicting Classifications

rs_1166127455

2 SubmittersRCV001997473 RCV004907756

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

NC_000001.11:g.20661370G>A

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

Congenital myasthenic syndrome 13
DPAGT1-congenital disorder of glycosylation

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/Likely pathogenic

PGM1-congenital disorder of glycosylation
Congenital disorder of glycosylation

Criteria Provided
Multiple Submitters
No Conflicts

rs_1453920894

2 SubmittersRCV001904562 RCV004798932

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

DPAGT1-congenital disorder of glycosylation
Congenital myasthenic syndrome 13

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
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_150953098

3 SubmittersRCV001976999 RCV002579689 RCV004694094

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

SNV
Germline

Chr6:117707001

Likely pathogenic

Congenital disorder of glycosylation, type IAA
NUS1-related epilepsy-myoclonus-ataxia syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_2114696019

2 SubmittersRCV002012498 RCV004799678

NM_153603.4(COG7):c.1293-6C>T

SNV
Germline

Chr16:23413570

Conflicting classifications of pathogenicity

COG7 congenital disorder of glycosylation
not specified

Criteria Provided
Conflicting Classifications

rs_770617869

2 SubmittersRCV002198984 RCV004770422

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

3 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_033087.4(ALG2):c.1133G>A (p.Arg378His)

SNV
Germline

Chr9:99218052

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003074559 RCV004978530

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_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_012463.4(ATP6V0A2):c.976G>T (p.Ala326Ser)

SNV
Germline

Chr12:123737209

Conflicting classifications of pathogenicity

ALG9 congenital disorder of glycosylation
Cutis laxa with osteodystrophy
Wrinkly skin syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

3 SubmittersRCV002958790 RCV004725432 RCV002962036

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_002633.3(PGM1):c.38A>C (p.Gln13Pro)

SNV
Germline

Chr1:63593526

Conflicting classifications of pathogenicity

PGM1-congenital disorder of glycosylation
Inborn genetic diseases
PGM1-related disorder

Criteria Provided
Conflicting Classifications

3 SubmittersRCV002999396 RCV004661532 RCV004736240

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_020751.3(COG6):c.1672C>T (p.Gln558Ter)

SNV
Germline

Chr13:39723420

Pathogenic

COG6-congenital disorder of glycosylation

Criteria Provided
Single Submitter

1 SubmittersRCV003333714

NM_020751.3(COG6):c.153+392A>G

SNV
Germline

Chr13:39656271

Pathogenic

COG6-congenital disorder of glycosylation

Criteria Provided
Single Submitter

1 SubmittersRCV003333715

NM_153603.4(COG7):c.1330C>T (p.Arg444Ter)

SNV
Germline

Chr16:23413527

Likely pathogenic

COG7 congenital disorder of glycosylation
Condition: not provided

Criteria Provided
Single Submitter

2 SubmittersRCV003233294 RCV004593244

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_020751.3(COG6):c.1884T>G (p.Tyr628Ter)

SNV
Germline

Chr13:39751003

Pathogenic

COG6-congenital disorder of glycosylation

No Assertion Criteria Provided

1 SubmittersRCV003777335

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

Conflicting classifications of pathogenicity

ALG3-congenital disorder of glycosylation
not specified

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003499934 RCV004701732

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_001367916.1(MAGT1):c.628A>G (p.Met210Val)

SNV
Germline

ChrX:77856777

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003526480 RCV004723389

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_001367916.1(MAGT1):c.49G>A (p.Ala17Thr)

SNV
Germline

ChrX:77895362

Conflicting classifications of pathogenicity

X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
Linear skin defects with multiple congenital anomalies 2
Congenital disorder of glycosylation, type ICC

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003641162 RCV004731553

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_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
Multiple Submitters
No Conflicts

2 SubmittersRCV003613187

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

SNV
Germline

Chr16:5077905

Likely pathogenic

ALG1-congenital disorder of glycosylation

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003613267

NM_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

Congenital myasthenic syndrome 13
DPAGT1-congenital disorder of glycosylation

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_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_020751.3(COG6):c.1826+2T>C

SNV
Germline

Chr13:39727550

Likely pathogenic

COG6-congenital disorder of glycosylation

Criteria Provided
Single Submitter

1 SubmittersRCV003990679

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

NM_005787.6(ALG3):c.67C>T (p.Gln23Ter)

SNV
Germline

Chr3:184248874

Pathogenic

ALG3-congenital disorder of glycosylation

Criteria Provided
Single Submitter

1 SubmittersRCV004587822

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

SNV
Germline

Chr3:184245467

Likely pathogenic

ALG3-congenital disorder of glycosylation

Criteria Provided
Single Submitter

1 SubmittersRCV004783343

NM_138459.5(NUS1):c.51T>A (p.Cys17Ter)

SNV
Germline

Chr6:117675721

Pathogenic

Congenital disorder of glycosylation, type IAA

Criteria Provided
Single Submitter

1 SubmittersRCV004790017