ClinVar for MedGen (Select 419694) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25069551.	NM_001382.4(DPAGT1):c.160A>T (p.Ile54Phe) GRCh37: Chr11:118972206 GRCh38: Chr11:119101496	DPAGT1, LOC126861360	I54F	DPAGT1-congenital disorder of glycosylation	Likely pathogenic (Jun 28, 2023)	criteria provided, single submitter
Select item 24456862.	NC_000011.9:g.(118971849_118972204)_(118972786_?)del GRCh37: Chr11:118971849-118972786	DPAGT1		DPAGT1-congenital disorder of glycosylation	Likely pathogenic (Feb 27, 2023)	criteria provided, single submitter
Select item 24135893.	NM_001382.4(DPAGT1):c.428A>G (p.Asn143Ser) GRCh37: Chr11:118971408 GRCh38: Chr11:119100698	DPAGT1	N143S	DPAGT1-congenital disorder of glycosylation, Congenital myasthenic syndrome 13	Uncertain significance (Aug 9, 2022)	criteria provided, single submitter
Select item 22038414.	NM_001382.4(DPAGT1):c.76G>A (p.Val26Ile) GRCh37: Chr11:118972290 GRCh38: Chr11:119101580	DPAGT1, LOC126861360	V26I	Inborn genetic diseases, DPAGT1-congenital disorder of glycosylation, Congenital myasthenic syndrome 13	Uncertain significance (Jun 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 21957875.	NM_001382.4(DPAGT1):c.789C>T (p.Ala263=) GRCh37: Chr11:118968693 GRCh38: Chr11:119097983	DPAGT1		DPAGT1-congenital disorder of glycosylation, Congenital myasthenic syndrome 13	Likely benign (Jun 14, 2022)	criteria provided, single submitter
Select item 21870006.	NM_001382.4(DPAGT1):c.462C>T (p.Pro154=) GRCh37: Chr11:118971374 GRCh38: Chr11:119100664	DPAGT1		DPAGT1-congenital disorder of glycosylation, Congenital myasthenic syndrome 13	Likely benign (Sep 1, 2022)	criteria provided, single submitter
Select item 21733257.	NM_001382.4(DPAGT1):c.162-15G>A GRCh37: Chr11:118971863 GRCh38: Chr11:119101153	DPAGT1, LOC126861360		DPAGT1-congenital disorder of glycosylation, Congenital myasthenic syndrome 13	Likely benign (Sep 16, 2022)	criteria provided, single submitter
Select item 21690188.	NM_001382.4(DPAGT1):c.908G>T (p.Arg303Leu) GRCh37: Chr11:118968574 GRCh38: Chr11:119097864	DPAGT1	R303L	DPAGT1-congenital disorder of glycosylation, Congenital myasthenic syndrome 13	Uncertain significance (Feb 8, 2022)	criteria provided, single submitter
Select item 21540129.	NM_001382.4(DPAGT1):c.637T>C (p.Leu213=) GRCh37: Chr11:118970978 GRCh38: Chr11:119100268	DPAGT1		DPAGT1-congenital disorder of glycosylation, Congenital myasthenic syndrome 13	Likely benign (Apr 26, 2022)	criteria provided, single submitter
Select item 214340510.	NM_001382.4(DPAGT1):c.731A>G (p.Tyr244Cys) GRCh37: Chr11:118968751 GRCh38: Chr11:119098041	DPAGT1	Y244C	DPAGT1-congenital disorder of glycosylation, Congenital myasthenic syndrome 13	Uncertain significance (May 20, 2022)	criteria provided, single submitter
Select item 214338711.	NM_001382.4(DPAGT1):c.222C>T (p.Ile74=) GRCh37: Chr11:118971788 GRCh38: Chr11:119101078	DPAGT1, LOC126861360		DPAGT1-congenital disorder of glycosylation, Congenital myasthenic syndrome 13	Likely benign (Aug 23, 2022)	criteria provided, single submitter
Select item 213890812.	NM_001382.4(DPAGT1):c.1162-14A>G GRCh37: Chr11:118967787 GRCh38: Chr11:119097077	DPAGT1		DPAGT1-congenital disorder of glycosylation, Congenital myasthenic syndrome 13	Likely benign (Aug 12, 2022)	criteria provided, single submitter
Select item 211564013.	NM_001382.4(DPAGT1):c.161+13A>G GRCh37: Chr11:118972192 GRCh38: Chr11:119101482	DPAGT1, LOC126861360		DPAGT1-congenital disorder of glycosylation, Congenital myasthenic syndrome 13	Likely benign (Mar 21, 2022)	criteria provided, single submitter
Select item 211131014.	NM_001382.4(DPAGT1):c.917+7G>A GRCh37: Chr11:118968558 GRCh38: Chr11:119097848	DPAGT1		DPAGT1-congenital disorder of glycosylation, Congenital myasthenic syndrome 13	Likely benign (Mar 4, 2022)	criteria provided, single submitter
Select item 211041015.	NM_001382.4(DPAGT1):c.283-17G>A GRCh37: Chr11:118971570 GRCh38: Chr11:119100860	DPAGT1		DPAGT1-congenital disorder of glycosylation, Congenital myasthenic syndrome 13	Uncertain significance (Jun 17, 2022)	criteria provided, single submitter
Select item 210145716.	NM_001382.4(DPAGT1):c.669T>C (p.Phe223=) GRCh37: Chr11:118969172 GRCh38: Chr11:119098462	DPAGT1		Congenital myasthenic syndrome 13, DPAGT1-congenital disorder of glycosylation	Likely benign (Feb 22, 2022)	criteria provided, single submitter
Select item 209721317.	NM_001382.4(DPAGT1):c.710G>C (p.Gly237Ala) GRCh37: Chr11:118969131 GRCh38: Chr11:119098421	DPAGT1	G237A	Congenital myasthenic syndrome 13, DPAGT1-congenital disorder of glycosylation	Uncertain significance (Jul 6, 2022)	criteria provided, single submitter
Select item 209407518.	NM_001382.4(DPAGT1):c.286G>T (p.Val96Leu) GRCh37: Chr11:118971550 GRCh38: Chr11:119100840	DPAGT1	V96L	DPAGT1-congenital disorder of glycosylation, Congenital myasthenic syndrome 13	Uncertain significance (Feb 6, 2022)	criteria provided, single submitter
Select item 208653519.	NM_001382.4(DPAGT1):c.121C>A (p.Leu41Ile) GRCh37: Chr11:118972245 GRCh38: Chr11:119101535	DPAGT1, LOC126861360	L41I	Congenital myasthenic syndrome 13, DPAGT1-congenital disorder of glycosylation	Uncertain significance (Mar 28, 2022)	criteria provided, single submitter
Select item 207342120.	NM_001382.4(DPAGT1):c.121C>G (p.Leu41Val) GRCh37: Chr11:118972245 GRCh38: Chr11:119101535	DPAGT1, LOC126861360	L41V	Congenital myasthenic syndrome 13, DPAGT1-congenital disorder of glycosylation	Uncertain significance (Jul 30, 2022)	criteria provided, single submitter
Select item 206594421.	NM_001382.4(DPAGT1):c.888C>T (p.Ile296=) GRCh37: Chr11:118968594 GRCh38: Chr11:119097884	DPAGT1		Congenital myasthenic syndrome 13, DPAGT1-congenital disorder of glycosylation	Likely benign (May 6, 2022)	criteria provided, single submitter
Select item 205749422.	NM_001382.4(DPAGT1):c.441G>A (p.Thr147=) GRCh37: Chr11:118971395 GRCh38: Chr11:119100685	DPAGT1		DPAGT1-congenital disorder of glycosylation, Congenital myasthenic syndrome 13	Likely benign (Sep 13, 2022)	criteria provided, single submitter
Select item 205236523.	NM_001382.4(DPAGT1):c.452T>A (p.Val151Glu) GRCh37: Chr11:118971384 GRCh38: Chr11:119100674	DPAGT1	V151E	DPAGT1-congenital disorder of glycosylation, Congenital myasthenic syndrome 13	Uncertain significance (Aug 20, 2022)	criteria provided, single submitter
Select item 205171324.	NM_001382.4(DPAGT1):c.691T>C (p.Phe231Leu) GRCh37: Chr11:118969150 GRCh38: Chr11:119098440	DPAGT1	F231L	DPAGT1-congenital disorder of glycosylation, Congenital myasthenic syndrome 13	Uncertain significance (Jul 7, 2022)	criteria provided, single submitter
Select item 203932425.	NM_001382.4(DPAGT1):c.1200G>T (p.Gln400His) GRCh37: Chr11:118967735 GRCh38: Chr11:119097025	DPAGT1	Q400H	DPAGT1-congenital disorder of glycosylation, Congenital myasthenic syndrome 13	Uncertain significance (Jan 11, 2022)	criteria provided, single submitter
Select item 203925926.	NM_001382.4(DPAGT1):c.1207C>T (p.Arg403Ter) GRCh37: Chr11:118967728 GRCh38: Chr11:119097018	DPAGT1	R403*	DPAGT1-congenital disorder of glycosylation, Congenital myasthenic syndrome 13	Uncertain significance (Jul 21, 2022)	criteria provided, single submitter
Select item 203505127.	NM_001382.4(DPAGT1):c.1161+18G>A GRCh37: Chr11:118967834 GRCh38: Chr11:119097124	DPAGT1		Congenital myasthenic syndrome 13, DPAGT1-congenital disorder of glycosylation	Likely benign (Oct 10, 2022)	criteria provided, single submitter
Select item 202760328.	NM_001382.4(DPAGT1):c.1164C>A (p.Ile388=) GRCh37: Chr11:118967771 GRCh38: Chr11:119097061	DPAGT1		DPAGT1-congenital disorder of glycosylation, Congenital myasthenic syndrome 13	Likely benign (Aug 28, 2022)	criteria provided, single submitter
Select item 202756429.	NM_001382.4(DPAGT1):c.282+20T>C GRCh37: Chr11:118971708 GRCh38: Chr11:119100998	DPAGT1, LOC126861360		DPAGT1-congenital disorder of glycosylation, Congenital myasthenic syndrome 13	Likely benign (Aug 28, 2022)	criteria provided, single submitter
Select item 202221130.	NM_001382.4(DPAGT1):c.1044T>C (p.Ser348=) GRCh37: Chr11:118967969 GRCh38: Chr11:119097259	DPAGT1		Congenital myasthenic syndrome 13, DPAGT1-congenital disorder of glycosylation	Likely benign (Aug 6, 2022)	criteria provided, single submitter
Select item 201622231.	NM_001382.4(DPAGT1):c.592T>A (p.Ser198Thr) GRCh37: Chr11:118971023 GRCh38: Chr11:119100313	DPAGT1	S198T	DPAGT1-congenital disorder of glycosylation, Congenital myasthenic syndrome 13	Uncertain significance (Aug 12, 2022)	criteria provided, single submitter
Select item 201600432.	NM_001382.4(DPAGT1):c.77T>C (p.Val26Ala) GRCh37: Chr11:118972289 GRCh38: Chr11:119101579	DPAGT1, LOC126861360	V26A	DPAGT1-congenital disorder of glycosylation, Congenital myasthenic syndrome 13	Uncertain significance (Jul 11, 2022)	criteria provided, single submitter
Select item 201069833.	NM_001382.4(DPAGT1):c.1033G>A (p.Val345Ile) GRCh37: Chr11:118967980 GRCh38: Chr11:119097270	DPAGT1	V345I	Congenital myasthenic syndrome 13, DPAGT1-congenital disorder of glycosylation	Uncertain significance (Jun 25, 2022)	criteria provided, single submitter
Select item 200968434.	NM_001382.4(DPAGT1):c.283-3C>A GRCh37: Chr11:118971556 GRCh38: Chr11:119100846	DPAGT1		DPAGT1-congenital disorder of glycosylation, Congenital myasthenic syndrome 13	Uncertain significance (Jul 23, 2022)	criteria provided, single submitter
Select item 200728635.	NM_001382.4(DPAGT1):c.466C>A (p.Arg156Ser) GRCh37: Chr11:118971370 GRCh38: Chr11:119100660	DPAGT1	R156S	DPAGT1-congenital disorder of glycosylation, Congenital myasthenic syndrome 13	Uncertain significance (Jun 15, 2022)	criteria provided, single submitter
Select item 200454936.	NM_001382.4(DPAGT1):c.850T>C (p.Phe284Leu) GRCh37: Chr11:118968632 GRCh38: Chr11:119097922	DPAGT1	F284L	Congenital myasthenic syndrome 13, DPAGT1-congenital disorder of glycosylation	Uncertain significance (Jun 10, 2022)	criteria provided, single submitter
Select item 199794737.	NM_001382.4(DPAGT1):c.14C>G (p.Ser5Trp) GRCh37: Chr11:118972352 GRCh38: Chr11:119101642	DPAGT1, LOC126861360	S5W	DPAGT1-congenital disorder of glycosylation, Congenital myasthenic syndrome 13	Uncertain significance (Jun 1, 2022)	criteria provided, single submitter
Select item 196447638.	NM_001382.4(DPAGT1):c.103C>T (p.His35Tyr) GRCh37: Chr11:118972263 GRCh38: Chr11:119101553	DPAGT1, LOC126861360	H35Y	DPAGT1-congenital disorder of glycosylation, Congenital myasthenic syndrome 13	Uncertain significance (Apr 3, 2022)	criteria provided, single submitter
Select item 196283739.	NM_001382.4(DPAGT1):c.444C>T (p.Thr148=) GRCh37: Chr11:118971392 GRCh38: Chr11:119100682	DPAGT1		DPAGT1-congenital disorder of glycosylation, Congenital myasthenic syndrome 13	Likely benign (May 27, 2022)	criteria provided, single submitter
Select item 196278140.	NM_001382.4(DPAGT1):c.681C>G (p.Phe227Leu) GRCh37: Chr11:118969160 GRCh38: Chr11:119098450	DPAGT1	F227L	DPAGT1-congenital disorder of glycosylation, Congenital myasthenic syndrome 13	Uncertain significance (Apr 1, 2022)	criteria provided, single submitter
Select item 195826841.	NM_001382.4(DPAGT1):c.162-12G>C GRCh37: Chr11:118971860 GRCh38: Chr11:119101150	DPAGT1, LOC126861360		DPAGT1-congenital disorder of glycosylation, Congenital myasthenic syndrome 13	Likely benign (Sep 28, 2022)	criteria provided, single submitter
Select item 195605542.	NM_001382.4(DPAGT1):c.1208G>A (p.Arg403Gln) GRCh37: Chr11:118967727 GRCh38: Chr11:119097017	DPAGT1	R403Q	Inborn genetic diseases, DPAGT1-congenital disorder of glycosylation, Congenital myasthenic syndrome 13	Uncertain significance (Jan 26, 2023)	criteria provided, multiple submitters, no conflicts
Select item 194129043.	NM_001382.4(DPAGT1):c.342G>C (p.Ala114=) GRCh37: Chr11:118971494 GRCh38: Chr11:119100784	DPAGT1		Congenital myasthenic syndrome 13, DPAGT1-congenital disorder of glycosylation	Likely benign (Aug 2, 2022)	criteria provided, single submitter
Select item 194023244.	NM_001382.4(DPAGT1):c.285T>C (p.Phe95=) GRCh37: Chr11:118971551 GRCh38: Chr11:119100841	DPAGT1		Congenital myasthenic syndrome 13, DPAGT1-congenital disorder of glycosylation	Uncertain significance (Apr 7, 2022)	criteria provided, single submitter
Select item 193969245.	NM_001382.4(DPAGT1):c.453G>A (p.Val151=) GRCh37: Chr11:118971383 GRCh38: Chr11:119100673	DPAGT1		Congenital myasthenic syndrome 13, DPAGT1-congenital disorder of glycosylation	Likely benign (Aug 22, 2022)	criteria provided, single submitter
Select item 189599446.	NM_001382.4(DPAGT1):c.1005+5C>T GRCh37: Chr11:118968169 GRCh38: Chr11:119097459	DPAGT1		Congenital myasthenic syndrome 13, DPAGT1-congenital disorder of glycosylation	Uncertain significance (Sep 6, 2022)	criteria provided, single submitter
Select item 168530447.	NM_001382.4(DPAGT1):c.643+1G>A GRCh37: Chr11:118970971 GRCh38: Chr11:119100261	DPAGT1		DPAGT1-congenital disorder of glycosylation	Likely pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 166910048.	NM_001382.4(DPAGT1):c.621C>T (p.Val207=) GRCh37: Chr11:118970994 GRCh38: Chr11:119100284	DPAGT1		Congenital myasthenic syndrome 13, DPAGT1-congenital disorder of glycosylation	Likely benign (Mar 18, 2022)	criteria provided, single submitter
Select item 166889349.	NM_001382.4(DPAGT1):c.1134C>T (p.Asn378=) GRCh37: Chr11:118967879 GRCh38: Chr11:119097169	DPAGT1		DPAGT1-congenital disorder of glycosylation, Congenital myasthenic syndrome 13	Likely benign (Jul 5, 2021)	criteria provided, single submitter
Select item 166781150.	NM_001382.4(DPAGT1):c.663T>C (p.His221=) GRCh37: Chr11:118969178 GRCh38: Chr11:119098468	DPAGT1		Congenital myasthenic syndrome 13, DPAGT1-congenital disorder of glycosylation	Likely benign (Nov 29, 2021)	criteria provided, single submitter
Select item 164661251.	NM_001382.4(DPAGT1):c.1006-6C>T GRCh37: Chr11:118968013 GRCh38: Chr11:119097303	DPAGT1		DPAGT1-congenital disorder of glycosylation, Congenital myasthenic syndrome 13	Likely benign (Jun 2, 2021)	criteria provided, single submitter
Select item 162534852.	NM_001382.4(DPAGT1):c.276C>T (p.His92=) GRCh37: Chr11:118971734 GRCh38: Chr11:119101024	DPAGT1, LOC126861360		DPAGT1-congenital disorder of glycosylation, Congenital myasthenic syndrome 13	Likely benign (Oct 28, 2021)	criteria provided, single submitter
Select item 161913853.	NM_001382.4(DPAGT1):c.1161+15C>T GRCh37: Chr11:118967837 GRCh38: Chr11:119097127	DPAGT1		DPAGT1-congenital disorder of glycosylation, Congenital myasthenic syndrome 13	Likely benign (Aug 24, 2021)	criteria provided, single submitter
Select item 161420854.	NM_001382.4(DPAGT1):c.216C>T (p.Cys72=) GRCh37: Chr11:118971794 GRCh38: Chr11:119101084	DPAGT1, LOC126861360		DPAGT1-congenital disorder of glycosylation, Congenital myasthenic syndrome 13	Likely benign (Nov 11, 2020)	criteria provided, single submitter
Select item 160682855.	NM_001382.4(DPAGT1):c.497-4G>A GRCh37: Chr11:118971122 GRCh38: Chr11:119100412	DPAGT1		DPAGT1-congenital disorder of glycosylation, Congenital myasthenic syndrome 13	Likely benign (Sep 27, 2022)	criteria provided, single submitter
Select item 160337956.	NM_001382.4(DPAGT1):c.496+17C>T GRCh37: Chr11:118971323 GRCh38: Chr11:119100613	DPAGT1		DPAGT1-congenital disorder of glycosylation, Congenital myasthenic syndrome 13	Likely benign (Aug 31, 2022)	criteria provided, single submitter
Select item 159789257.	NM_001382.4(DPAGT1):c.162-20C>G GRCh37: Chr11:118971868 GRCh38: Chr11:119101158	DPAGT1, LOC126861360		DPAGT1-congenital disorder of glycosylation, Congenital myasthenic syndrome 13	Likely benign (Jun 27, 2022)	criteria provided, single submitter
Select item 159773658.	NM_001382.4(DPAGT1):c.633A>G (p.Val211=) GRCh37: Chr11:118970982 GRCh38: Chr11:119100272	DPAGT1		DPAGT1-congenital disorder of glycosylation, Congenital myasthenic syndrome 13	Likely benign (Oct 26, 2022)	criteria provided, single submitter
Select item 159563659.	NM_001382.4(DPAGT1):c.993C>T (p.Thr331=) GRCh37: Chr11:118968186 GRCh38: Chr11:119097476	DPAGT1		DPAGT1-congenital disorder of glycosylation, Congenital myasthenic syndrome 13	Likely benign (Mar 30, 2022)	criteria provided, single submitter
Select item 158577860.	NM_001382.4(DPAGT1):c.644-15T>A GRCh37: Chr11:118969212 GRCh38: Chr11:119098502	DPAGT1		Congenital myasthenic syndrome 13, DPAGT1-congenital disorder of glycosylation	Likely benign (Jun 30, 2021)	criteria provided, single submitter
Select item 158544061.	NM_001382.4(DPAGT1):c.162-20C>T GRCh37: Chr11:118971868 GRCh38: Chr11:119101158	DPAGT1, LOC126861360		DPAGT1-congenital disorder of glycosylation, Congenital myasthenic syndrome 13	Likely benign (Oct 21, 2021)	criteria provided, single submitter
Select item 158412662.	NM_001382.4(DPAGT1):c.1224C>T (p.Val408=) GRCh37: Chr11:118967711 GRCh38: Chr11:119097001	DPAGT1		DPAGT1-congenital disorder of glycosylation, Congenital myasthenic syndrome 13	Likely benign (Jan 2, 2021)	criteria provided, single submitter
Select item 158359363.	NM_001382.4(DPAGT1):c.1161+9G>A GRCh37: Chr11:118967843 GRCh38: Chr11:119097133	DPAGT1		Congenital myasthenic syndrome 13, DPAGT1-congenital disorder of glycosylation	Likely benign (Sep 4, 2021)	criteria provided, single submitter
Select item 158293664.	NM_001382.4(DPAGT1):c.471G>A (p.Pro157=) GRCh37: Chr11:118971365 GRCh38: Chr11:119100655	DPAGT1		Congenital myasthenic syndrome 13, DPAGT1-congenital disorder of glycosylation	Likely benign (Jan 24, 2021)	criteria provided, single submitter
Select item 157787265.	NM_001382.4(DPAGT1):c.810C>T (p.His270=) GRCh37: Chr11:118968672 GRCh38: Chr11:119097962	DPAGT1		DPAGT1-congenital disorder of glycosylation, Congenital myasthenic syndrome 13	Likely benign (Sep 1, 2022)	criteria provided, single submitter
Select item 157711466.	NM_001382.4(DPAGT1):c.162-18C>G GRCh37: Chr11:118971866 GRCh38: Chr11:119101156	DPAGT1, LOC126861360		DPAGT1-congenital disorder of glycosylation, Congenital myasthenic syndrome 13	Likely benign (Aug 18, 2021)	criteria provided, single submitter
Select item 157185267.	NM_001382.4(DPAGT1):c.1101A>T (p.Leu367=) GRCh37: Chr11:118967912 GRCh38: Chr11:119097202	DPAGT1		Congenital myasthenic syndrome 13, DPAGT1-congenital disorder of glycosylation	Likely benign (Jul 14, 2021)	criteria provided, single submitter
Select item 155848968.	NM_001382.4(DPAGT1):c.162-16T>C GRCh37: Chr11:118971864 GRCh38: Chr11:119101154	DPAGT1, LOC126861360		DPAGT1-congenital disorder of glycosylation, Congenital myasthenic syndrome 13	Likely benign (Aug 9, 2022)	criteria provided, single submitter
Select item 154334969.	NM_001382.4(DPAGT1):c.930G>A (p.Lys310=) GRCh37: Chr11:118968249 GRCh38: Chr11:119097539	DPAGT1		DPAGT1-congenital disorder of glycosylation, Congenital myasthenic syndrome 13	Likely benign (Jul 12, 2022)	criteria provided, single submitter
Select item 153556370.	NM_001382.4(DPAGT1):c.714G>A (p.Leu238=) GRCh37: Chr11:118969127 GRCh38: Chr11:119098417	DPAGT1		Congenital myasthenic syndrome 13, DPAGT1-congenital disorder of glycosylation	Likely benign (Aug 6, 2021)	criteria provided, single submitter
Select item 153055171.	NM_001382.4(DPAGT1):c.1188C>T (p.Ser396=) GRCh37: Chr11:118967747 GRCh38: Chr11:119097037	DPAGT1		Congenital myasthenic syndrome 13, DPAGT1-congenital disorder of glycosylation	Likely benign (Nov 26, 2020)	criteria provided, single submitter
Select item 152480672.	NM_001382.4(DPAGT1):c.1018C>T (p.Leu340Phe) GRCh37: Chr11:118967995 GRCh38: Chr11:119097285	DPAGT1	L340F	DPAGT1-congenital disorder of glycosylation, Congenital myasthenic syndrome 13	Uncertain significance (Oct 4, 2021)	criteria provided, single submitter
Select item 151835273.	NM_001382.4(DPAGT1):c.1162A>C (p.Ile388Leu) GRCh37: Chr11:118967773 GRCh38: Chr11:119097063	DPAGT1	I388L	DPAGT1-congenital disorder of glycosylation, Congenital myasthenic syndrome 13	Uncertain significance (Aug 27, 2021)	criteria provided, single submitter
Select item 151602974.	NM_001382.4(DPAGT1):c.277C>G (p.His93Asp) GRCh37: Chr11:118971733 GRCh38: Chr11:119101023	DPAGT1, LOC126861360	H93D	DPAGT1-congenital disorder of glycosylation, Congenital myasthenic syndrome 13	Uncertain significance (Feb 4, 2022)	criteria provided, single submitter
Select item 150934375.	NM_001382.4(DPAGT1):c.404C>T (p.Pro135Leu) GRCh37: Chr11:118971432 GRCh38: Chr11:119100722	DPAGT1	P135L	DPAGT1-congenital disorder of glycosylation, Congenital myasthenic syndrome 13	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 150918276.	NM_001382.4(DPAGT1):c.908G>A (p.Arg303His) GRCh37: Chr11:118968574 GRCh38: Chr11:119097864	DPAGT1	R303H	DPAGT1-congenital disorder of glycosylation, Congenital myasthenic syndrome 13	Uncertain significance (Oct 5, 2021)	criteria provided, single submitter
Select item 149912577.	NM_001382.4(DPAGT1):c.729-10C>A GRCh37: Chr11:118968763 GRCh38: Chr11:119098053	DPAGT1		Congenital myasthenic syndrome 13, DPAGT1-congenital disorder of glycosylation	Uncertain significance (Aug 30, 2021)	criteria provided, single submitter
Select item 149815078.	NM_001382.4(DPAGT1):c.660T>G (p.Asp220Glu) GRCh37: Chr11:118969181 GRCh38: Chr11:119098471	DPAGT1	D220E	Congenital myasthenic syndrome 13, DPAGT1-congenital disorder of glycosylation	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 148982379.	NM_001382.4(DPAGT1):c.1210C>T (p.Leu404Phe) GRCh37: Chr11:118967725 GRCh38: Chr11:119097015	DPAGT1	L404F	Congenital myasthenic syndrome 13, DPAGT1-congenital disorder of glycosylation	Uncertain significance (Mar 18, 2022)	criteria provided, single submitter
Select item 148403080.	NM_001382.4(DPAGT1):c.1219G>A (p.Asp407Asn) GRCh37: Chr11:118967716 GRCh38: Chr11:119097006	DPAGT1	D407N	DPAGT1-congenital disorder of glycosylation, Congenital myasthenic syndrome 13	Uncertain significance (Aug 23, 2022)	criteria provided, single submitter
Select item 148036681.	NM_001382.4(DPAGT1):c.644-1G>T GRCh37: Chr11:118969198 GRCh38: Chr11:119098488	DPAGT1		Congenital myasthenic syndrome 13, DPAGT1-congenital disorder of glycosylation	Likely pathogenic (Feb 18, 2022)	criteria provided, single submitter
Select item 147904882.	NM_001382.4(DPAGT1):c.253G>A (p.Glu85Lys) GRCh37: Chr11:118971757 GRCh38: Chr11:119101047	DPAGT1, LOC126861360	E85K	DPAGT1-congenital disorder of glycosylation, Congenital myasthenic syndrome 13	Uncertain significance (Jan 12, 2022)	criteria provided, single submitter
Select item 147884483.	NM_001382.4(DPAGT1):c.575G>T (p.Gly192Val) GRCh37: Chr11:118971040 GRCh38: Chr11:119100330	DPAGT1	G192V	Congenital myasthenic syndrome 13, DPAGT1-congenital disorder of glycosylation	Uncertain significance (Sep 2, 2021)	criteria provided, single submitter
Select item 147507684.	NM_001382.4(DPAGT1):c.41A>G (p.Asn14Ser) GRCh37: Chr11:118972325 GRCh38: Chr11:119101615	DPAGT1, LOC126861360	N14S	DPAGT1-congenital disorder of glycosylation, Congenital myasthenic syndrome 13	Uncertain significance (Jul 19, 2022)	criteria provided, single submitter
Select item 147208185.	NM_001382.4(DPAGT1):c.1051G>A (p.Glu351Lys) GRCh37: Chr11:118967962 GRCh38: Chr11:119097252	DPAGT1	E351K	DPAGT1-congenital disorder of glycosylation, Congenital myasthenic syndrome 13	Uncertain significance (Sep 17, 2021)	criteria provided, single submitter
Select item 146303486.	NM_001382.4(DPAGT1):c.1142T>C (p.Leu381Ser) GRCh37: Chr11:118967871 GRCh38: Chr11:119097161	DPAGT1	L381S	Congenital myasthenic syndrome 13, DPAGT1-congenital disorder of glycosylation	Uncertain significance (Aug 14, 2021)	criteria provided, single submitter
Select item 146046887.	NM_001382.4(DPAGT1):c.6G>A (p.Trp2Ter) GRCh37: Chr11:118972360 GRCh38: Chr11:119101650	DPAGT1, LOC126861360	W2*	DPAGT1-congenital disorder of glycosylation, Congenital myasthenic syndrome 13	Pathogenic (Feb 27, 2021)	criteria provided, single submitter
Select item 145120388.	NM_001382.4(DPAGT1):c.762_765del (p.Cys255fs) GRCh37: Chr11:118968717-118968720 GRCh38: Chr11:119098007-119098010	DPAGT1	C255fs	Congenital myasthenic syndrome 13, DPAGT1-congenital disorder of glycosylation	Pathogenic (Oct 6, 2021)	criteria provided, single submitter
Select item 143877889.	NM_001382.4(DPAGT1):c.1180A>C (p.Thr394Pro) GRCh37: Chr11:118967755 GRCh38: Chr11:119097045	DPAGT1	T394P	DPAGT1-congenital disorder of glycosylation, Congenital myasthenic syndrome 13	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 143500490.	NM_001382.4(DPAGT1):c.496+3A>G GRCh37: Chr11:118971337 GRCh38: Chr11:119100627	DPAGT1		Congenital myasthenic syndrome 13, DPAGT1-congenital disorder of glycosylation	Uncertain significance (Sep 7, 2022)	criteria provided, single submitter
Select item 142995391.	NM_001382.4(DPAGT1):c.406C>A (p.Leu136Ile) GRCh37: Chr11:118971430 GRCh38: Chr11:119100720	DPAGT1	L136I	Congenital myasthenic syndrome 13, DPAGT1-congenital disorder of glycosylation	Uncertain significance (Jul 28, 2021)	criteria provided, single submitter
Select item 142895992.	NM_001382.4(DPAGT1):c.257A>T (p.Gln86Leu) GRCh37: Chr11:118971753 GRCh38: Chr11:119101043	DPAGT1, LOC126861360	Q86L	DPAGT1-congenital disorder of glycosylation, Congenital myasthenic syndrome 13	Uncertain significance (May 3, 2022)	criteria provided, single submitter
Select item 142006593.	NM_001382.4(DPAGT1):c.412A>G (p.Met138Val) GRCh37: Chr11:118971424 GRCh38: Chr11:119100714	DPAGT1	M138V	Congenital myasthenic syndrome 13, DPAGT1-congenital disorder of glycosylation	Uncertain significance (Jun 20, 2022)	criteria provided, single submitter
Select item 140710494.	NM_001382.4(DPAGT1):c.652C>T (p.Arg218Trp) GRCh37: Chr11:118969189 GRCh38: Chr11:119098479	DPAGT1	R218W	DPAGT1-congenital disorder of glycosylation, Congenital myasthenic syndrome 13	Uncertain significance (Mar 22, 2022)	criteria provided, single submitter
Select item 138424295.	NM_001382.4(DPAGT1):c.215G>A (p.Cys72Tyr) GRCh37: Chr11:118971795 GRCh38: Chr11:119101085	DPAGT1, LOC126861360	C72Y	Congenital myasthenic syndrome 13, DPAGT1-congenital disorder of glycosylation	Uncertain significance (Oct 3, 2021)	criteria provided, single submitter
Select item 138313596.	NM_001382.4(DPAGT1):c.700A>G (p.Thr234Ala) GRCh37: Chr11:118969141 GRCh38: Chr11:119098431	DPAGT1	T234A	Congenital myasthenic syndrome 13, DPAGT1-congenital disorder of glycosylation	Uncertain significance (Sep 26, 2022)	criteria provided, single submitter
Select item 137858197.	NM_001382.4(DPAGT1):c.750G>A (p.Val250=) GRCh37: Chr11:118968732 GRCh38: Chr11:119098022	DPAGT1		Congenital myasthenic syndrome 13, DPAGT1-congenital disorder of glycosylation	Uncertain significance (Oct 3, 2021)	criteria provided, single submitter
Select item 137366398.	NM_001382.4(DPAGT1):c.1139C>T (p.Thr380Ile) GRCh37: Chr11:118967874 GRCh38: Chr11:119097164	DPAGT1	T380I	DPAGT1-congenital disorder of glycosylation, DPAGT1-congenital disorder of glycosylation, Congenital myasthenic syndrome 13, Congenital myasthenic syndrome 13	Conflicting interpretations of pathogenicity (Jun 24, 2023)	criteria provided, conflicting interpretations
Select item 136133799.	NM_001382.4(DPAGT1):c.1192C>T (p.Arg398Ter) GRCh37: Chr11:118967743 GRCh38: Chr11:119097033	DPAGT1	R398*	DPAGT1-congenital disorder of glycosylation, Congenital myasthenic syndrome 13	Uncertain significance (Aug 12, 2021)	criteria provided, single submitter
Select item 1189938100.	NM_001382.4(DPAGT1):c.643+11T>A GRCh37: Chr11:118970961 GRCh38: Chr11:119100251	DPAGT1		DPAGT1-congenital disorder of glycosylation, Congenital myasthenic syndrome 13, not provided	Benign/Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts

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