ClinVar for MedGen (Select 322026) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24254191.	NC_000003.11:g.(?_182733226)_(184094097_?)del GRCh37: Chr3:182733226-184094097	ABCC5, MCF2L2, PSMD2, VWA5B2, YEATS2, ABCF3, HTR3E, HTR3D, FAM131A, KLHL24, EIF4G1, PARL, AP2M1, LAMP3, ECE2, MCCC1, CAMK2N2, HTR3C, ALG3, MAP6D1, B3GNT5, DVL3, MIR1224, THPO, POLR2H, EIF2B5, CLCN2, KLHL6		ALG3-congenital disorder of glycosylation, 3-methylcrotonyl-CoA carboxylase 1 deficiency	Conflicting interpretations of pathogenicity (Aug 2, 2022)	criteria provided, conflicting interpretations
Select item 21875732.	NM_005787.6(ALG3):c.606-18C>T GRCh37: Chr3:183962527 GRCh38: Chr3:184244739	ALG3		ALG3-congenital disorder of glycosylation	Likely benign (May 5, 2022)	criteria provided, single submitter
Select item 21864423.	NM_005787.6(ALG3):c.1014C>A (p.Ile338=) GRCh37: Chr3:183960741 GRCh38: Chr3:184242953	ALG3		ALG3-congenital disorder of glycosylation	Uncertain significance (Aug 6, 2022)	criteria provided, single submitter
Select item 21815764.	NM_005787.6(ALG3):c.79C>G (p.Arg27Gly) GRCh37: Chr3:183966650 GRCh38: Chr3:184248862	ALG3	R27G, A4G	ALG3-congenital disorder of glycosylation	Uncertain significance (Jun 17, 2022)	criteria provided, single submitter
Select item 21603325.	NM_005787.6(ALG3):c.53A>G (p.Glu18Gly) GRCh37: Chr3:183966676 GRCh38: Chr3:184248888	ALG3	E18G	ALG3-congenital disorder of glycosylation, Inborn genetic diseases	Uncertain significance (May 15, 2023)	criteria provided, multiple submitters, no conflicts
Select item 21596266.	NM_005787.6(ALG3):c.1212C>G (p.Cys404Trp) GRCh37: Chr3:183960407 GRCh38: Chr3:184242619	ALG3	C404W, C356W, C369W	Inborn genetic diseases, ALG3-congenital disorder of glycosylation	Uncertain significance (Jul 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 21515867.	NM_005787.6(ALG3):c.1254G>A (p.Leu418=) GRCh37: Chr3:183960365 GRCh38: Chr3:184242577	ALG3		ALG3-congenital disorder of glycosylation	Likely benign (Mar 29, 2022)	criteria provided, single submitter
Select item 21483888.	NM_005787.6(ALG3):c.639C>A (p.Leu213=) GRCh37: Chr3:183962476 GRCh38: Chr3:184244688	ALG3		ALG3-congenital disorder of glycosylation	Likely benign (Jun 13, 2022)	criteria provided, single submitter
Select item 21369699.	NM_005787.6(ALG3):c.364C>T (p.Arg122Cys) GRCh37: Chr3:183963336 GRCh38: Chr3:184245548	ALG3	R122C, R74C, R87C	ALG3-congenital disorder of glycosylation	Uncertain significance (Apr 19, 2022)	criteria provided, single submitter
Select item 211185010.	NM_005787.6(ALG3):c.579C>T (p.Arg193=) GRCh37: Chr3:183963012 GRCh38: Chr3:184245224	ALG3		ALG3-congenital disorder of glycosylation	Likely benign (Mar 14, 2022)	criteria provided, single submitter
Select item 211166411.	NM_005787.6(ALG3):c.296+20T>C GRCh37: Chr3:183963481 GRCh38: Chr3:184245693	ALG3		ALG3-congenital disorder of glycosylation	Likely benign (Sep 27, 2022)	criteria provided, single submitter
Select item 207169612.	NM_005787.6(ALG3):c.1132C>T (p.Arg378Cys) GRCh37: Chr3:183960623 GRCh38: Chr3:184242835	ALG3	R330C, R343C, R378C	ALG3-congenital disorder of glycosylation, Inborn genetic diseases	Uncertain significance (May 9, 2023)	criteria provided, multiple submitters, no conflicts
Select item 206726513.	NM_005787.6(ALG3):c.62G>T (p.Cys21Phe) GRCh37: Chr3:183966667 GRCh38: Chr3:184248879	ALG3	C21F	ALG3-congenital disorder of glycosylation	Uncertain significance (May 5, 2022)	criteria provided, single submitter
Select item 206639014.	NM_005787.6(ALG3):c.50C>T (p.Ala17Val) GRCh37: Chr3:183966679 GRCh38: Chr3:184248891	ALG3	A17V	not provided, ALG3-congenital disorder of glycosylation	Uncertain significance (Sep 8, 2023)	criteria provided, multiple submitters, no conflicts
Select item 206073315.	NM_005787.6(ALG3):c.945T>C (p.Ser315=) GRCh37: Chr3:183961406 GRCh38: Chr3:184243618	ALG3		ALG3-congenital disorder of glycosylation	Likely benign (Oct 25, 2022)	criteria provided, single submitter
Select item 205998316.	NM_005787.6(ALG3):c.890A>G (p.His297Arg) GRCh37: Chr3:183961621 GRCh38: Chr3:184243833	ALG3	H249R, H297R, H262R	ALG3-congenital disorder of glycosylation	Uncertain significance (Jul 9, 2022)	criteria provided, single submitter
Select item 205807617.	NM_005787.6(ALG3):c.1083C>T (p.Tyr361=) GRCh37: Chr3:183960672 GRCh38: Chr3:184242884	ALG3		ALG3-congenital disorder of glycosylation	Uncertain significance (May 4, 2022)	criteria provided, single submitter
Select item 205259418.	NM_005787.6(ALG3):c.457G>A (p.Val153Ile) GRCh37: Chr3:183963134 GRCh38: Chr3:184245346	ALG3	V153I, V118I, V105I	ALG3-congenital disorder of glycosylation	Uncertain significance (Aug 3, 2022)	criteria provided, single submitter
Select item 200666419.	NM_005787.6(ALG3):c.944G>A (p.Ser315Asn) GRCh37: Chr3:183961407 GRCh38: Chr3:184243619	ALG3	S267N, S280N, S315N	ALG3-congenital disorder of glycosylation	Uncertain significance (Sep 19, 2022)	criteria provided, single submitter
Select item 200015120.	NM_005787.6(ALG3):c.1188dup (p.Asn397fs) GRCh37: Chr3:183960430-183960431 GRCh38: Chr3:184242642-184242643	ALG3	N397fs, N349fs	ALG3-congenital disorder of glycosylation	Uncertain significance (Jul 20, 2022)	criteria provided, single submitter
Select item 199221021.	NM_005787.6(ALG3):c.30G>C (p.Arg10=) GRCh37: Chr3:183966699 GRCh38: Chr3:184248911	ALG3		ALG3-congenital disorder of glycosylation	Likely benign (Nov 2, 2022)	criteria provided, single submitter
Select item 198235822.	NM_005787.6(ALG3):c.33C>A (p.Ser11=) GRCh37: Chr3:183966696 GRCh38: Chr3:184248908	ALG3		ALG3-congenital disorder of glycosylation	Likely benign (Oct 14, 2022)	criteria provided, single submitter
Select item 198216223.	NM_005787.6(ALG3):c.1014C>T (p.Ile338=) GRCh37: Chr3:183960741 GRCh38: Chr3:184242953	ALG3		ALG3-congenital disorder of glycosylation	Likely benign (May 21, 2022)	criteria provided, single submitter
Select item 197133224.	NM_005787.6(ALG3):c.34G>C (p.Gly12Arg) GRCh37: Chr3:183966695 GRCh38: Chr3:184248907	ALG3	G12R	ALG3-congenital disorder of glycosylation	Uncertain significance (Jul 1, 2022)	criteria provided, single submitter
Select item 195711025.	NM_005787.6(ALG3):c.685C>T (p.Arg229Cys) GRCh37: Chr3:183962430 GRCh38: Chr3:184244642	ALG3	R181C, R194C, R229C	Inborn genetic diseases, ALG3-congenital disorder of glycosylation	Uncertain significance (Apr 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 195140826.	NM_005787.6(ALG3):c.11G>T (p.Gly4Val) GRCh37: Chr3:183966718 GRCh38: Chr3:184248930	ALG3	G4V	ALG3-congenital disorder of glycosylation	Uncertain significance (Oct 13, 2022)	criteria provided, single submitter
Select item 194095527.	NM_005787.6(ALG3):c.932+10G>A GRCh37: Chr3:183961569 GRCh38: Chr3:184243781	ALG3		ALG3-congenital disorder of glycosylation	Likely benign (Jun 18, 2022)	criteria provided, single submitter
Select item 191989528.	NM_005787.6(ALG3):c.445-19T>C GRCh37: Chr3:183963165 GRCh38: Chr3:184245377	ALG3		ALG3-congenital disorder of glycosylation	Likely benign (Feb 28, 2022)	criteria provided, single submitter
Select item 190997229.	NM_005787.6(ALG3):c.61T>G (p.Cys21Gly) GRCh37: Chr3:183966668 GRCh38: Chr3:184248880	ALG3	C21G	ALG3-congenital disorder of glycosylation	Uncertain significance (Oct 24, 2022)	criteria provided, single submitter
Select item 190292130.	NM_005787.6(ALG3):c.347G>C (p.Ser116Thr) GRCh37: Chr3:183963353 GRCh38: Chr3:184245565	ALG3	S116T, S81T, S68T	ALG3-congenital disorder of glycosylation	Uncertain significance (May 16, 2022)	criteria provided, single submitter
Select item 180532331.	NM_005787.6(ALG3):c.503T>C (p.Phe168Ser) GRCh37: Chr3:183963088 GRCh38: Chr3:184245300	ALG3	F120S, F133S, F168S	ALG3-congenital disorder of glycosylation	Uncertain significance (May 21, 2020)	criteria provided, single submitter
Select item 171690132.	NM_005787.6(ALG3):c.101T>C (p.Leu34Pro) GRCh37: Chr3:183966628 GRCh38: Chr3:184248840	ALG3	L34P	ALG3-congenital disorder of glycosylation	Uncertain significance (Aug 19, 2022)	criteria provided, single submitter
Select item 162430533.	NM_005787.6(ALG3):c.605+9C>T GRCh37: Chr3:183962977 GRCh38: Chr3:184245189	ALG3		ALG3-congenital disorder of glycosylation	Likely benign (Apr 19, 2021)	criteria provided, single submitter
Select item 160863834.	NM_005787.6(ALG3):c.18G>A (p.Arg6=) GRCh37: Chr3:183966711 GRCh38: Chr3:184248923	ALG3		ALG3-congenital disorder of glycosylation	Likely benign (Oct 14, 2021)	criteria provided, single submitter
Select item 159215235.	NM_005787.6(ALG3):c.196+19del GRCh37: Chr3:183966514 GRCh38: Chr3:184248726	ALG3		ALG3-congenital disorder of glycosylation	Likely benign (Jul 12, 2022)	criteria provided, single submitter
Select item 157250036.	NM_005787.6(ALG3):c.296+13A>C GRCh37: Chr3:183963488 GRCh38: Chr3:184245700	ALG3		ALG3-congenital disorder of glycosylation	Likely benign (Oct 5, 2022)	criteria provided, single submitter
Select item 157110937.	NM_005787.6(ALG3):c.312C>T (p.Phe104=) GRCh37: Chr3:183963388 GRCh38: Chr3:184245600	ALG3		ALG3-congenital disorder of glycosylation	Likely benign (Dec 14, 2020)	criteria provided, single submitter
Select item 155625738.	NM_005787.6(ALG3):c.321C>T (p.Ile107=) GRCh37: Chr3:183963379 GRCh38: Chr3:184245591	ALG3		ALG3-congenital disorder of glycosylation	Likely benign (Aug 9, 2022)	criteria provided, single submitter
Select item 151967939.	NM_005787.6(ALG3):c.863C>T (p.Ala288Val) GRCh37: Chr3:183961648 GRCh38: Chr3:184243860	ALG3	A240V, A288V	ALG3-congenital disorder of glycosylation	Uncertain significance (Sep 17, 2021)	criteria provided, single submitter
Select item 148704240.	NM_005787.6(ALG3):c.929A>G (p.His310Arg) GRCh37: Chr3:183961582 GRCh38: Chr3:184243794	ALG3	H310R, H262R	ALG3-congenital disorder of glycosylation	Uncertain significance (Aug 28, 2021)	criteria provided, single submitter
Select item 148690441.	NM_005787.6(ALG3):c.977G>A (p.Arg326Lys) GRCh37: Chr3:183961374 GRCh38: Chr3:184243586	ALG3	R278K, R326K	ALG3-congenital disorder of glycosylation	Uncertain significance (Aug 26, 2021)	criteria provided, single submitter
Select item 143756342.	NM_005787.6(ALG3):c.812A>G (p.His271Arg) GRCh37: Chr3:183961699 GRCh38: Chr3:184243911	ALG3	H223R, H271R	ALG3-congenital disorder of glycosylation	Uncertain significance (Aug 31, 2022)	criteria provided, single submitter
Select item 142838843.	NM_005787.6(ALG3):c.16C>T (p.Arg6Trp) GRCh37: Chr3:183966713 GRCh38: Chr3:184248925	ALG3	R6W	ALG3-congenital disorder of glycosylation	Uncertain significance (Jan 14, 2022)	criteria provided, single submitter
Select item 135158944.	NM_005787.6(ALG3):c.223A>G (p.Met75Val) GRCh37: Chr3:183963574 GRCh38: Chr3:184245786	ALG3	M27V, M75V	ALG3-congenital disorder of glycosylation	Uncertain significance (Jun 13, 2022)	criteria provided, single submitter
Select item 133909645.	NM_005787.6(ALG3):c.545T>C (p.Leu182Pro) GRCh37: Chr3:183963046 GRCh38: Chr3:184245258	ALG3	L134P, L182P	ALG3-congenital disorder of glycosylation	Uncertain significance	criteria provided, single submitter
Select item 131092846.	NM_005787.6(ALG3):c.985C>G (p.Pro329Ala) GRCh37: Chr3:183961366 GRCh38: Chr3:184243578	ALG3	P281A, P329A	not provided, ALG3-congenital disorder of glycosylation	Uncertain significance (Jan 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 120866347.	NM_005787.6(ALG3):c.1280T>A (p.Phe427Tyr) GRCh37: Chr3:183960339 GRCh38: Chr3:184242551	ALG3	F379Y, F427Y	not provided, ALG3-congenital disorder of glycosylation	Uncertain significance (May 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 118485248.	NM_005787.6(ALG3):c.410_411insTGTCTTCTTGCT (p.Leu137_Leu138insValPheLeuLeu) GRCh37: Chr3:183963289-183963290 GRCh38: Chr3:184245501-184245502	ALG3		ALG3-congenital disorder of glycosylation	Likely pathogenic	no assertion criteria provided
Select item 118485149.	NM_005787.6(ALG3):c.521A>G (p.Asn174Ser) GRCh37: Chr3:183963070 GRCh38: Chr3:184245282	ALG3	N126S, N174S	ALG3-congenital disorder of glycosylation	Likely pathogenic (Feb 23, 2023)	criteria provided, single submitter
Select item 118485050.	NM_005787.6(ALG3):c.1154G>C (p.Arg385Thr) GRCh37: Chr3:183960601 GRCh38: Chr3:184242813	ALG3	R337T, R385T	ALG3-congenital disorder of glycosylation	Pathogenic	no assertion criteria provided
Select item 118484951.	NM_005787.6(ALG3):c.611C>T (p.Ala204Val) GRCh37: Chr3:183962504 GRCh38: Chr3:184244716	ALG3	A156V, A204V	not specified	Uncertain significance (May 17, 2023)	criteria provided, single submitter
Select item 118484852.	NM_005787.6(ALG3):c.796C>T (p.Arg266Cys) GRCh37: Chr3:183961715 GRCh38: Chr3:184243927	ALG3	R218C, R266C	not provided	Pathogenic (Jul 26, 2021)	criteria provided, single submitter
Select item 118484753.	NM_005787.6(ALG3):c.749T>A (p.Leu250Gln) GRCh37: Chr3:183961762 GRCh38: Chr3:184243974	ALG3	L202Q, L250Q	ALG3-congenital disorder of glycosylation	Pathogenic	no assertion criteria provided
Select item 118484654.	NM_005787.6(ALG3):c.656T>C (p.Leu219Pro) GRCh37: Chr3:183962459 GRCh38: Chr3:184244671	ALG3	L171P, L219P	ALG3-congenital disorder of glycosylation	Pathogenic	no assertion criteria provided
Select item 117267455.	NM_005787.6(ALG3):c.72G>A (p.Trp24Ter) GRCh37: Chr3:183966657 GRCh38: Chr3:184248869	ALG3	W24*	ALG3-congenital disorder of glycosylation	Pathogenic	criteria provided, single submitter
Select item 115865856.	NM_005787.6(ALG3):c.633G>A (p.Val211=) GRCh37: Chr3:183962482 GRCh38: Chr3:184244694	ALG3		ALG3-congenital disorder of glycosylation	Likely benign (Mar 10, 2020)	criteria provided, single submitter
Select item 112910857.	NM_005787.6(ALG3):c.1215C>T (p.Ser405=) GRCh37: Chr3:183960404 GRCh38: Chr3:184242616	ALG3		ALG3-congenital disorder of glycosylation	Likely benign (Aug 21, 2020)	criteria provided, single submitter
Select item 105488158.	NM_005787.6(ALG3):c.550C>T (p.Leu184Phe) GRCh37: Chr3:183963041 GRCh38: Chr3:184245253	ALG3	L136F, L184F	ALG3-congenital disorder of glycosylation	Uncertain significance (Aug 28, 2021)	criteria provided, single submitter
Select item 105304559.	NM_005787.6(ALG3):c.1061G>A (p.Arg354His) GRCh37: Chr3:183960694 GRCh38: Chr3:184242906	ALG3	R306H, R354H	ALG3-congenital disorder of glycosylation	Pathogenic (Oct 21, 2022)	criteria provided, single submitter
Select item 103318560.	NM_001006941.2(ALG3):c.46G>T (p.Gly16Trp) GRCh37: Chr3:183967020 GRCh38: Chr3:184249232	ALG3	G16W	ALG3-congenital disorder of glycosylation	Uncertain significance (Jan 30, 2018)	criteria provided, single submitter
Select item 103157461.	NM_005787.6(ALG3):c.296+5G>A GRCh37: Chr3:183963496 GRCh38: Chr3:184245708	ALG3		ALG3-congenital disorder of glycosylation	Uncertain significance (Oct 31, 2018)	criteria provided, single submitter
Select item 102484462.	NM_005787.6(ALG3):c.332T>G (p.Leu111Trp) GRCh37: Chr3:183963368 GRCh38: Chr3:184245580	ALG3	L111W, L63W	ALG3-congenital disorder of glycosylation	Uncertain significance (Aug 10, 2022)	criteria provided, single submitter
Select item 101848163.	NM_005787.6(ALG3):c.82G>C (p.Ala28Pro) GRCh37: Chr3:183966647 GRCh38: Chr3:184248859	ALG3	A28P	ALG3-congenital disorder of glycosylation	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 100450964.	NM_005787.6(ALG3):c.248A>G (p.Asn83Ser) GRCh37: Chr3:183963549 GRCh38: Chr3:184245761	ALG3	N35S, N83S	ALG3-congenital disorder of glycosylation, Inborn genetic diseases	Uncertain significance (Mar 28, 2023)	criteria provided, multiple submitters, no conflicts
Select item 99658565.	NM_005787.6(ALG3):c.953C>T (p.Ser318Leu) GRCh37: Chr3:183961398 GRCh38: Chr3:184243610	ALG3	S270L, S318L	ALG3-congenital disorder of glycosylation	Uncertain significance (Aug 29, 2022)	criteria provided, single submitter
Select item 99231966.	NM_005787.6(ALG3):c.1108T>C (p.Tyr370His) GRCh37: Chr3:183960647 GRCh38: Chr3:184242859	ALG3	Y322H, Y370H	not provided, ALG3-congenital disorder of glycosylation	Uncertain significance (Aug 26, 2021)	criteria provided, multiple submitters, no conflicts
Select item 96223267.	NM_005787.6(ALG3):c.1243G>A (p.Val415Ile) GRCh37: Chr3:183960376 GRCh38: Chr3:184242588	ALG3	V415I, V367I	ALG3-congenital disorder of glycosylation	Uncertain significance (Jul 11, 2022)	criteria provided, single submitter
Select item 93045168.	NM_005787.6(ALG3):c.444+2T>G GRCh37: Chr3:183963254 GRCh38: Chr3:184245466	ALG3		ALG3-congenital disorder of glycosylation	Likely pathogenic (Apr 23, 2019)	criteria provided, single submitter
Select item 90331569.	NM_005787.6(ALG3):c.304G>T (p.Ala102Ser) GRCh37: Chr3:183963396 GRCh38: Chr3:184245608	ALG3	A102S, A54S	ALG3-congenital disorder of glycosylation	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90331470.	NM_005787.6(ALG3):c.347G>T (p.Ser116Ile) GRCh37: Chr3:183963353 GRCh38: Chr3:184245565	ALG3	S116I, S68I	ALG3-congenital disorder of glycosylation	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90331371.	NM_005787.6(ALG3):c.469A>G (p.Met157Val) GRCh37: Chr3:183963122 GRCh38: Chr3:184245334	ALG3	M157V, M109V	ALG3-congenital disorder of glycosylation	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90331272.	NM_005787.6(ALG3):c.544C>T (p.Leu182Phe) GRCh37: Chr3:183963047 GRCh38: Chr3:184245259	ALG3	L134F, L182F	ALG3-congenital disorder of glycosylation	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90245473.	NM_005787.6(ALG3):c.696C>T (p.Leu232=) GRCh37: Chr3:183962419 GRCh38: Chr3:184244631	ALG3		ALG3-congenital disorder of glycosylation	Conflicting interpretations of pathogenicity (Aug 14, 2019)	criteria provided, conflicting interpretations
Select item 90245374.	NM_005787.6(ALG3):c.778C>T (p.Arg260Cys) GRCh37: Chr3:183961733 GRCh38: Chr3:184243945	ALG3	R212C, R260C	ALG3-congenital disorder of glycosylation	Uncertain significance (Jul 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 90079075.	NM_005787.6(ALG3):c.971C>G (p.Ser324Cys) GRCh37: Chr3:183961380 GRCh38: Chr3:184243592	ALG3	S276C, S324C	ALG3-congenital disorder of glycosylation	Uncertain significance (Jun 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 90078976.	NM_005787.6(ALG3):c.1015G>A (p.Val339Ile) GRCh37: Chr3:183960740 GRCh38: Chr3:184242952	ALG3	V339I, V291I	ALG3-congenital disorder of glycosylation	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90078877.	NM_005787.6(ALG3):c.1077G>A (p.Gln359=) GRCh37: Chr3:183960678 GRCh38: Chr3:184242890	ALG3		ALG3-congenital disorder of glycosylation	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89971078.	NM_005787.5(ALG3):c.-31G>A GRCh37: Chr3:183966759 GRCh38: Chr3:184248971	ALG3		ALG3-congenital disorder of glycosylation	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 89970979.	NM_005787.6(ALG3):c.66G>A (p.Lys22=) GRCh37: Chr3:183966663 GRCh38: Chr3:184248875	ALG3		ALG3-congenital disorder of glycosylation	Conflicting interpretations of pathogenicity (Oct 17, 2022)	criteria provided, conflicting interpretations
Select item 89970880.	NM_005787.6(ALG3):c.296+7G>A GRCh37: Chr3:183963494 GRCh38: Chr3:184245706	ALG3		ALG3-congenital disorder of glycosylation	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89964581.	NM_005787.6(ALG3):c.*108T>C GRCh37: Chr3:183960194 GRCh38: Chr3:184242406	ALG3		ALG3-congenital disorder of glycosylation	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 84979882.	NM_005787.6(ALG3):c.763A>C (p.Ser255Arg) GRCh37: Chr3:183961748 GRCh38: Chr3:184243960	ALG3	S255R, S207R	ALG3-congenital disorder of glycosylation	Uncertain significance (Aug 26, 2021)	criteria provided, single submitter
Select item 73595083.	NM_005787.6(ALG3):c.642C>T (p.Phe214=) GRCh37: Chr3:183962473 GRCh38: Chr3:184244685	ALG3		ALG3-congenital disorder of glycosylation	Likely benign (Dec 31, 2019)	criteria provided, single submitter
Select item 72078684.	NM_005787.6(ALG3):c.954G>A (p.Ser318=) GRCh37: Chr3:183961397 GRCh38: Chr3:184243609	ALG3		ALG3-congenital disorder of glycosylation	Benign (Oct 20, 2022)	criteria provided, single submitter
Select item 71464485.	NM_005787.6(ALG3):c.549C>T (p.Phe183=) GRCh37: Chr3:183963042 GRCh38: Chr3:184245254	ALG3		ALG3-congenital disorder of glycosylation	Likely benign (Jun 11, 2022)	criteria provided, single submitter
Select item 71071886.	NM_005787.6(ALG3):c.16C>A (p.Arg6=) GRCh37: Chr3:183966713 GRCh38: Chr3:184248925	ALG3		ALG3-congenital disorder of glycosylation	Likely benign (Dec 14, 2020)	criteria provided, single submitter
Select item 71069287.	NM_005787.6(ALG3):c.606-10C>T GRCh37: Chr3:183962519 GRCh38: Chr3:184244731	ALG3		ALG3-congenital disorder of glycosylation	Conflicting interpretations of pathogenicity (Jan 12, 2018)	criteria provided, conflicting interpretations
Select item 70202988.	NM_005787.6(ALG3):c.690G>A (p.Gly230=) GRCh37: Chr3:183962425 GRCh38: Chr3:184244637	ALG3		ALG3-congenital disorder of glycosylation	Likely benign (Aug 22, 2022)	criteria provided, single submitter
Select item 64799189.	NM_005787.6(ALG3):c.240C>T (p.Gly80=) GRCh37: Chr3:183963557 GRCh38: Chr3:184245769	ALG3		ALG3-congenital disorder of glycosylation	Uncertain significance (Aug 28, 2021)	criteria provided, single submitter
Select item 63499190.	NM_005787.6(ALG3):c.221A>G (p.Tyr74Cys) GRCh37: Chr3:183963576 GRCh38: Chr3:184245788	ALG3	Y74C, Y26C	ALG3-congenital disorder of glycosylation	Likely pathogenic (Jan 1, 2019)	criteria provided, single submitter
Select item 61767491.	NM_005787.6(ALG3):c.350G>C (p.Arg117Pro) GRCh37: Chr3:183963350 GRCh38: Chr3:184245562	ALG3	R117P, R69P	ALG3-congenital disorder of glycosylation	Pathogenic	criteria provided, single submitter
Select item 61767392.	NM_005787.6(ALG3):c.286G>A (p.Gly96Arg) GRCh37: Chr3:183963511 GRCh38: Chr3:184245723	ALG3	G96R, G48R	ALG3-congenital disorder of glycosylation	Likely pathogenic (May 21, 2020)	criteria provided, single submitter
Select item 61751793.	NM_005787.6(ALG3):c.163_196+3del GRCh37: Chr3:183966530-183966566 GRCh38: Chr3:184248742-184248778	ALG3		ALG3-congenital disorder of glycosylation	Pathogenic	no assertion criteria provided
Select item 61751494.	NM_005787.6(ALG3):c.296+4A>G GRCh37: Chr3:183963497 GRCh38: Chr3:184245709	ALG3		ALG3-congenital disorder of glycosylation	Likely pathogenic (Nov 5, 2015)	criteria provided, single submitter
Select item 61751395.	NM_005787.6(ALG3):c.1037A>G (p.Asn346Ser) GRCh37: Chr3:183960718 GRCh38: Chr3:184242930	ALG3	N346S, N298S	ALG3-congenital disorder of glycosylation	Pathogenic (Dec 3, 2015)	criteria provided, single submitter
Select item 61747696.	NM_005787.6(ALG3):c.1263G>A (p.Trp421Ter) GRCh37: Chr3:183960356 GRCh38: Chr3:184242568	ALG3	W421, W373	ALG3-congenital disorder of glycosylation	Pathogenic	no assertion criteria provided
Select item 54854097.	NM_005787.6(ALG3):c.1024C>A (p.Leu342Ile) GRCh37: Chr3:183960731 GRCh38: Chr3:184242943	ALG3	L342I, L294I	ALG3-congenital disorder of glycosylation	Conflicting interpretations of pathogenicity (Nov 1, 2022)	criteria provided, conflicting interpretations
Select item 52158398.	NM_005787.6(ALG3):c.991C>T (p.Gln331Ter) GRCh37: Chr3:183961360 GRCh38: Chr3:184243572	ALG3	Q331, Q283	Inborn genetic diseases	Pathogenic (Feb 7, 2017)	criteria provided, single submitter
Select item 52158299.	NM_005787.6(ALG3):c.914C>A (p.Ala305Asp) GRCh37: Chr3:183961597 GRCh38: Chr3:184243809	ALG3	A305D, A257D	Inborn genetic diseases	Uncertain significance (Feb 7, 2017)	criteria provided, single submitter
Select item 521065100.	NM_005787.6(ALG3):c.626T>C (p.Met209Thr) GRCh37: Chr3:183962489 GRCh38: Chr3:184244701	ALG3	M209T, M161T	ALG3-congenital disorder of glycosylation, Inborn genetic diseases	Uncertain significance (Jun 8, 2020)	criteria provided, multiple submitters, no conflicts

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