ClinVar for MedGen (Select 334618) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24251821.	NC_000009.11:g.(?_100190748)_(103062956_?)dup GRCh37: Chr9:100190748-103062956	ALG2, ANKS6, ANP32B, COL15A1, CORO2A, ERP44, FOXE1, GABBR2, GALNT12, HEMGN, INVS, NANS, NCBP1, NR4A3, SEC61B, STX17, TBC1D2, TDRD7, TGFBR1, TMOD1, TRIM14, TRMO, TSTD2, XPA		Familial thoracic aortic aneurysm and aortic dissection, ALG2-congenital disorder of glycosylation, Congenital myasthenic syndrome 14	Uncertain significance (Aug 10, 2022)	criteria provided, single submitter
Select item 24152492.	NM_033087.4(ALG2):c.81C>T (p.Gly27=) GRCh37: Chr9:101984096 GRCh38: Chr9:99221814	ALG2		ALG2-congenital disorder of glycosylation, Congenital myasthenic syndrome 14	Likely benign (Aug 26, 2022)	criteria provided, single submitter
Select item 21993813.	NM_033087.4(ALG2):c.348+20G>A GRCh37: Chr9:101983809 GRCh38: Chr9:99221527	ALG2		ALG2-congenital disorder of glycosylation, Congenital myasthenic syndrome 14	Likely benign (Oct 17, 2022)	criteria provided, single submitter
Select item 21974204.	NM_033087.4(ALG2):c.918A>G (p.Lys306=) GRCh37: Chr9:101980549 GRCh38: Chr9:99218267	ALG2		Congenital myasthenic syndrome 14, ALG2-congenital disorder of glycosylation	Likely benign (May 4, 2022)	criteria provided, single submitter
Select item 21960835.	NM_033087.4(ALG2):c.147C>G (p.Ile49Met) GRCh37: Chr9:101984030 GRCh38: Chr9:99221748	ALG2	I49M	Congenital myasthenic syndrome 14, ALG2-congenital disorder of glycosylation	Uncertain significance (Oct 17, 2022)	criteria provided, single submitter
Select item 21898216.	NM_033087.4(ALG2):c.351G>T (p.Val117=) GRCh37: Chr9:101981116 GRCh38: Chr9:99218834	ALG2		ALG2-congenital disorder of glycosylation, Congenital myasthenic syndrome 14	Likely benign (Jul 24, 2022)	criteria provided, single submitter
Select item 21793287.	NM_033087.4(ALG2):c.96G>A (p.Leu32=) GRCh37: Chr9:101984081 GRCh38: Chr9:99221799	ALG2		ALG2-congenital disorder of glycosylation, Congenital myasthenic syndrome 14	Likely benign (Sep 2, 2022)	criteria provided, single submitter
Select item 21767618.	NM_033087.4(ALG2):c.42G>A (p.Lys14=) GRCh37: Chr9:101984135 GRCh38: Chr9:99221853	ALG2		ALG2-congenital disorder of glycosylation, Congenital myasthenic syndrome 14	Likely benign (Jul 1, 2022)	criteria provided, single submitter
Select item 21733879.	NM_033087.4(ALG2):c.324G>A (p.Glu108=) GRCh37: Chr9:101983853 GRCh38: Chr9:99221571	ALG2		Congenital myasthenic syndrome 14, ALG2-congenital disorder of glycosylation	Likely benign (Oct 1, 2022)	criteria provided, single submitter
Select item 216771810.	NM_033087.4(ALG2):c.283G>A (p.Val95Ile) GRCh37: Chr9:101983894 GRCh38: Chr9:99221612	ALG2	V95I	ALG2-congenital disorder of glycosylation, Congenital myasthenic syndrome 14	Uncertain significance (Jul 18, 2022)	criteria provided, single submitter
Select item 216383011.	NM_033087.4(ALG2):c.135T>C (p.Cys45=) GRCh37: Chr9:101984042 GRCh38: Chr9:99221760	ALG2		Congenital myasthenic syndrome 14, ALG2-congenital disorder of glycosylation	Likely benign (Dec 31, 2021)	criteria provided, single submitter
Select item 216363912.	NM_033087.4(ALG2):c.841T>C (p.Tyr281His) GRCh37: Chr9:101980626 GRCh38: Chr9:99218344	ALG2	Y281H	ALG2-congenital disorder of glycosylation, Congenital myasthenic syndrome 14	Uncertain significance (Aug 5, 2022)	criteria provided, single submitter
Select item 216276013.	NM_033087.4(ALG2):c.729A>C (p.Ala243=) GRCh37: Chr9:101980738 GRCh38: Chr9:99218456	ALG2		ALG2-congenital disorder of glycosylation, Congenital myasthenic syndrome 14	Likely benign (Jul 7, 2022)	criteria provided, single submitter
Select item 215691614.	NM_033087.4(ALG2):c.550T>C (p.Phe184Leu) GRCh37: Chr9:101980917 GRCh38: Chr9:99218635	ALG2	F184L	Congenital myasthenic syndrome 14, ALG2-congenital disorder of glycosylation	Uncertain significance (Jul 12, 2022)	criteria provided, single submitter
Select item 215564015.	NM_033087.4(ALG2):c.964C>A (p.Pro322Thr) GRCh37: Chr9:101980503 GRCh38: Chr9:99218221	ALG2	P322T	Congenital myasthenic syndrome 14, ALG2-congenital disorder of glycosylation	Uncertain significance (Aug 21, 2022)	criteria provided, single submitter
Select item 214912916.	NM_033087.4(ALG2):c.3G>A (p.Met1Ile) GRCh37: Chr9:101984174 GRCh38: Chr9:99221892	ALG2	M1I	ALG2-congenital disorder of glycosylation, Congenital myasthenic syndrome 14	Uncertain significance (Jan 17, 2022)	criteria provided, single submitter
Select item 214797717.	NM_033087.4(ALG2):c.57C>T (p.Phe19=) GRCh37: Chr9:101984120 GRCh38: Chr9:99221838	ALG2		ALG2-congenital disorder of glycosylation, Congenital myasthenic syndrome 14	Likely benign (Sep 1, 2022)	criteria provided, single submitter
Select item 214740318.	NM_033087.4(ALG2):c.264C>T (p.Val88=) GRCh37: Chr9:101983913 GRCh38: Chr9:99221631	ALG2		ALG2-congenital disorder of glycosylation, Congenital myasthenic syndrome 14	Likely benign (Oct 11, 2022)	criteria provided, single submitter
Select item 214642819.	NM_033087.4(ALG2):c.1133G>A (p.Arg378His) GRCh37: Chr9:101980334 GRCh38: Chr9:99218052	ALG2	R378H	ALG2-congenital disorder of glycosylation, Congenital myasthenic syndrome 14	Uncertain significance (May 12, 2022)	criteria provided, single submitter
Select item 214500420.	NM_033087.4(ALG2):c.1180G>C (p.Val394Leu) GRCh37: Chr9:101980287 GRCh38: Chr9:99218005	ALG2	V394L	ALG2-congenital disorder of glycosylation, Congenital myasthenic syndrome 14	Uncertain significance (Mar 13, 2022)	criteria provided, single submitter
Select item 214317421.	NM_033087.4(ALG2):c.235C>G (p.Leu79Val) GRCh37: Chr9:101983942 GRCh38: Chr9:99221660	ALG2	L79V	Congenital myasthenic syndrome 14, ALG2-congenital disorder of glycosylation	Uncertain significance (Jul 13, 2022)	criteria provided, single submitter
Select item 212403222.	NM_033087.4(ALG2):c.144G>A (p.Lys48=) GRCh37: Chr9:101984033 GRCh38: Chr9:99221751	ALG2		ALG2-congenital disorder of glycosylation, Congenital myasthenic syndrome 14	Likely benign (Apr 12, 2022)	criteria provided, single submitter
Select item 211621423.	NM_033087.4(ALG2):c.750_751delinsTT (p.Arg251Cys) GRCh37: Chr9:101980716-101980717 GRCh38: Chr9:99218434-99218435	ALG2	R251C	ALG2-congenital disorder of glycosylation, Congenital myasthenic syndrome 14	Uncertain significance (Mar 23, 2022)	criteria provided, single submitter
Select item 211539724.	NM_033087.4(ALG2):c.746A>G (p.Gln249Arg) GRCh37: Chr9:101980721 GRCh38: Chr9:99218439	ALG2	Q249R	ALG2-congenital disorder of glycosylation, Congenital myasthenic syndrome 14	Uncertain significance (Mar 20, 2022)	criteria provided, single submitter
Select item 211188525.	NM_033087.4(ALG2):c.1062C>T (p.Asp354=) GRCh37: Chr9:101980405 GRCh38: Chr9:99218123	ALG2		ALG2-congenital disorder of glycosylation, Congenital myasthenic syndrome 14	Likely benign (Mar 14, 2022)	criteria provided, single submitter
Select item 209861026.	NM_033087.4(ALG2):c.666G>A (p.Lys222=) GRCh37: Chr9:101980801 GRCh38: Chr9:99218519	ALG2		ALG2-congenital disorder of glycosylation, Congenital myasthenic syndrome 14	Likely benign (Oct 31, 2022)	criteria provided, single submitter
Select item 209724027.	NM_033087.4(ALG2):c.282G>A (p.Met94Ile) GRCh37: Chr9:101983895 GRCh38: Chr9:99221613	ALG2	M94I	Congenital myasthenic syndrome 14, ALG2-congenital disorder of glycosylation	Uncertain significance (Feb 12, 2022)	criteria provided, single submitter
Select item 209092828.	NM_033087.4(ALG2):c.328G>C (p.Asp110His) GRCh37: Chr9:101983849 GRCh38: Chr9:99221567	ALG2	D110H	Congenital myasthenic syndrome 14, ALG2-congenital disorder of glycosylation	Uncertain significance (Feb 10, 2022)	criteria provided, single submitter
Select item 208897429.	NM_033087.4(ALG2):c.452T>C (p.Leu151Pro) GRCh37: Chr9:101981015 GRCh38: Chr9:99218733	ALG2	L151P	Congenital myasthenic syndrome 14, ALG2-congenital disorder of glycosylation	Uncertain significance (Feb 9, 2022)	criteria provided, single submitter
Select item 208782730.	NM_033087.4(ALG2):c.316G>A (p.Asp106Asn) GRCh37: Chr9:101983861 GRCh38: Chr9:99221579	ALG2	D106N	ALG2-congenital disorder of glycosylation, Congenital myasthenic syndrome 14	Uncertain significance (Jan 18, 2022)	criteria provided, single submitter
Select item 208296931.	NM_033087.4(ALG2):c.1140_1141inv (p.Ser381Thr) GRCh37: Chr9:101980326-101980327 GRCh38: Chr9:99218044-99218045	ALG2	S381T	Congenital myasthenic syndrome 14, ALG2-congenital disorder of glycosylation	Uncertain significance (Sep 26, 2022)	criteria provided, single submitter
Select item 208046632.	NM_033087.4(ALG2):c.382A>G (p.Arg128Gly) GRCh37: Chr9:101981085 GRCh38: Chr9:99218803	ALG2	R128G	Congenital myasthenic syndrome 14, ALG2-congenital disorder of glycosylation	Uncertain significance (Feb 19, 2022)	criteria provided, single submitter
Select item 207933233.	NM_033087.4(ALG2):c.660C>A (p.Val220=) GRCh37: Chr9:101980807 GRCh38: Chr9:99218525	ALG2		ALG2-congenital disorder of glycosylation, Congenital myasthenic syndrome 14	Likely benign (Mar 23, 2022)	criteria provided, single submitter
Select item 207731934.	NM_033087.4(ALG2):c.1110A>G (p.Ser370=) GRCh37: Chr9:101980357 GRCh38: Chr9:99218075	ALG2		ALG2-congenital disorder of glycosylation, Congenital myasthenic syndrome 14	Likely benign (Sep 4, 2022)	criteria provided, single submitter
Select item 206958135.	NM_033087.4(ALG2):c.385CGG[1] (p.Arg130del) GRCh37: Chr9:101981077-101981079 GRCh38: Chr9:99218795-99218797	ALG2	R130del	ALG2-congenital disorder of glycosylation, Congenital myasthenic syndrome 14	Uncertain significance (Jun 17, 2022)	criteria provided, single submitter
Select item 206783236.	NM_033087.4(ALG2):c.108G>A (p.Ala36=) GRCh37: Chr9:101984069 GRCh38: Chr9:99221787	ALG2		Congenital myasthenic syndrome 14, ALG2-congenital disorder of glycosylation	Likely benign (Sep 5, 2022)	criteria provided, single submitter
Select item 206514237.	NM_033087.4(ALG2):c.929C>A (p.Ser310Tyr) GRCh37: Chr9:101980538 GRCh38: Chr9:99218256	ALG2	S310Y	ALG2-congenital disorder of glycosylation, Congenital myasthenic syndrome 14	Uncertain significance (Jun 29, 2022)	criteria provided, single submitter
Select item 205665938.	NM_033087.4(ALG2):c.327C>T (p.Phe109=) GRCh37: Chr9:101983850 GRCh38: Chr9:99221568	ALG2		ALG2-congenital disorder of glycosylation, Congenital myasthenic syndrome 14	Likely benign (Apr 10, 2022)	criteria provided, single submitter
Select item 204737639.	NM_033087.4(ALG2):c.5C>T (p.Ala2Val) GRCh37: Chr9:101984172 GRCh38: Chr9:99221890	ALG2	A2V	ALG2-congenital disorder of glycosylation, Congenital myasthenic syndrome 14	Uncertain significance (May 19, 2022)	criteria provided, single submitter
Select item 204173440.	NM_033087.4(ALG2):c.308del (p.Phe103fs) GRCh37: Chr9:101983869 GRCh38: Chr9:99221587	ALG2	F103fs	ALG2-congenital disorder of glycosylation, Congenital myasthenic syndrome 14	Uncertain significance (Aug 9, 2022)	criteria provided, single submitter
Select item 202730741.	NM_033087.4(ALG2):c.971A>G (p.Asn324Ser) GRCh37: Chr9:101980496 GRCh38: Chr9:99218214	ALG2	N324S	ALG2-congenital disorder of glycosylation, Congenital myasthenic syndrome 14	Uncertain significance (Apr 15, 2022)	criteria provided, single submitter
Select item 201581342.	NM_033087.4(ALG2):c.974A>G (p.Glu325Gly) GRCh37: Chr9:101980493 GRCh38: Chr9:99218211	ALG2	E325G	Congenital myasthenic syndrome 14, ALG2-congenital disorder of glycosylation	Uncertain significance (Aug 21, 2022)	criteria provided, single submitter
Select item 200887243.	NM_033087.4(ALG2):c.814G>A (p.Glu272Lys) GRCh37: Chr9:101980653 GRCh38: Chr9:99218371	ALG2	E272K	Congenital myasthenic syndrome 14, ALG2-congenital disorder of glycosylation	Uncertain significance (Jul 27, 2022)	criteria provided, single submitter
Select item 200700444.	NM_033087.4(ALG2):c.949T>C (p.Cys317Arg) GRCh37: Chr9:101980518 GRCh38: Chr9:99218236	ALG2	C317R	ALG2-congenital disorder of glycosylation, Congenital myasthenic syndrome 14	Uncertain significance (Jun 15, 2022)	criteria provided, single submitter
Select item 200451245.	NM_033087.4(ALG2):c.306G>C (p.Leu102=) GRCh37: Chr9:101983871 GRCh38: Chr9:99221589	ALG2		ALG2-congenital disorder of glycosylation, Congenital myasthenic syndrome 14	Likely benign (Jun 10, 2022)	criteria provided, single submitter
Select item 199982246.	NM_033087.4(ALG2):c.97G>T (p.Val33Leu) GRCh37: Chr9:101984080 GRCh38: Chr9:99221798	ALG2	V33L	ALG2-congenital disorder of glycosylation, Congenital myasthenic syndrome 14	Uncertain significance (Jun 28, 2022)	criteria provided, single submitter
Select item 199903647.	NM_033087.4(ALG2):c.132del (p.Cys45fs) GRCh37: Chr9:101984045 GRCh38: Chr9:99221763	ALG2	C45fs	ALG2-congenital disorder of glycosylation, Congenital myasthenic syndrome 14	Uncertain significance (May 25, 2022)	criteria provided, single submitter
Select item 198502748.	NM_033087.4(ALG2):c.118C>T (p.Leu40=) GRCh37: Chr9:101984059 GRCh38: Chr9:99221777	ALG2		ALG2-congenital disorder of glycosylation, Congenital myasthenic syndrome 14	Likely benign (Sep 24, 2022)	criteria provided, single submitter
Select item 198298049.	NM_033087.4(ALG2):c.873C>T (p.Ser291=) GRCh37: Chr9:101980594 GRCh38: Chr9:99218312	ALG2		ALG2-congenital disorder of glycosylation, Congenital myasthenic syndrome 14	Likely benign (Oct 23, 2022)	criteria provided, single submitter
Select item 197961750.	NM_033087.4(ALG2):c.359G>A (p.Cys120Tyr) GRCh37: Chr9:101981108 GRCh38: Chr9:99218826	ALG2	C120Y	Congenital myasthenic syndrome 14, ALG2-congenital disorder of glycosylation	Uncertain significance (Jul 17, 2022)	criteria provided, single submitter
Select item 197272651.	NM_033087.4(ALG2):c.337G>A (p.Val113Met) GRCh37: Chr9:101983840 GRCh38: Chr9:99221558	ALG2	V113M	ALG2-congenital disorder of glycosylation, Congenital myasthenic syndrome 14	Uncertain significance (Jul 19, 2022)	criteria provided, single submitter
Select item 196946052.	NM_033087.4(ALG2):c.921_922del (p.Lys308fs) GRCh37: Chr9:101980545-101980546 GRCh38: Chr9:99218263-99218264	ALG2	K308fs	Congenital myasthenic syndrome 14, ALG2-congenital disorder of glycosylation	Uncertain significance (Apr 17, 2022)	criteria provided, single submitter
Select item 194322853.	NM_033087.4(ALG2):c.1005G>A (p.Met335Ile) GRCh37: Chr9:101980462 GRCh38: Chr9:99218180	ALG2	M335I	Congenital myasthenic syndrome 14, ALG2-congenital disorder of glycosylation	Uncertain significance (Jan 19, 2022)	criteria provided, single submitter
Select item 193718654.	NM_033087.4(ALG2):c.1235C>A (p.Thr412Asn) GRCh37: Chr9:101980232 GRCh38: Chr9:99217950	ALG2	T412N	Congenital myasthenic syndrome 14, ALG2-congenital disorder of glycosylation	Uncertain significance (Jan 16, 2022)	criteria provided, single submitter
Select item 193478055.	NM_033087.4(ALG2):c.691A>G (p.Ile231Val) GRCh37: Chr9:101980776 GRCh38: Chr9:99218494	ALG2	I231V	ALG2-congenital disorder of glycosylation, Congenital myasthenic syndrome 14	Uncertain significance (Jan 15, 2022)	criteria provided, single submitter
Select item 192752056.	NM_033087.4(ALG2):c.243_251dup (p.Gly85_Ala86insGlyArgGly) GRCh37: Chr9:101983925-101983926 GRCh38: Chr9:99221643-99221644	ALG2		ALG2-congenital disorder of glycosylation, Congenital myasthenic syndrome 14	Uncertain significance (Aug 20, 2022)	criteria provided, single submitter
Select item 192411557.	NM_033087.4(ALG2):c.675A>G (p.Lys225=) GRCh37: Chr9:101980792 GRCh38: Chr9:99218510	ALG2		ALG2-congenital disorder of glycosylation, Congenital myasthenic syndrome 14	Likely benign (May 28, 2022)	criteria provided, single submitter
Select item 191193458.	NM_033087.4(ALG2):c.179T>A (p.Phe60Tyr) GRCh37: Chr9:101983998 GRCh38: Chr9:99221716	ALG2	F60Y	ALG2-congenital disorder of glycosylation, Congenital myasthenic syndrome 14	Uncertain significance (May 19, 2022)	criteria provided, single submitter
Select item 191104159.	NM_033087.4(ALG2):c.560C>T (p.Thr187Ile) GRCh37: Chr9:101980907 GRCh38: Chr9:99218625	ALG2	T187I	ALG2-congenital disorder of glycosylation, Congenital myasthenic syndrome 14	Uncertain significance (Jun 22, 2022)	criteria provided, single submitter
Select item 191013960.	NM_033087.4(ALG2):c.147C>T (p.Ile49=) GRCh37: Chr9:101984030 GRCh38: Chr9:99221748	ALG2		ALG2-congenital disorder of glycosylation, Congenital myasthenic syndrome 14	Likely benign (Jul 11, 2022)	criteria provided, single submitter
Select item 189635161.	NM_033087.4(ALG2):c.34G>C (p.Val12Leu) GRCh37: Chr9:101984143 GRCh38: Chr9:99221861	ALG2	V12L	ALG2-congenital disorder of glycosylation, Congenital myasthenic syndrome 14	Uncertain significance (Aug 16, 2022)	criteria provided, single submitter
Select item 180532162.	NM_033087.4(ALG2):c.292G>A (p.Ala98Thr) GRCh37: Chr9:101983885 GRCh38: Chr9:99221603	ALG2	A98T	ALG2-congenital disorder of glycosylation	Uncertain significance (May 21, 2020)	criteria provided, single submitter
Select item 171492963.	NM_033087.4(ALG2):c.1014G>C (p.Gln338His) GRCh37: Chr9:101980453 GRCh38: Chr9:99218171	ALG2	Q338H	ALG2-congenital disorder of glycosylation, Congenital myasthenic syndrome 14	Uncertain significance (Aug 11, 2022)	criteria provided, single submitter
Select item 171442164.	NM_033087.4(ALG2):c.590A>G (p.Asp197Gly) GRCh37: Chr9:101980877 GRCh38: Chr9:99218595	ALG2	D197G	ALG2-congenital disorder of glycosylation, Congenital myasthenic syndrome 14	Uncertain significance (Jul 30, 2022)	criteria provided, single submitter
Select item 166600665.	NM_033087.4(ALG2):c.183C>T (p.Ala61=) GRCh37: Chr9:101983994 GRCh38: Chr9:99221712	ALG2		Congenital myasthenic syndrome 14, ALG2-congenital disorder of glycosylation	Likely benign (Oct 5, 2022)	criteria provided, single submitter
Select item 163751166.	NM_033087.4(ALG2):c.1191A>G (p.Lys397=) GRCh37: Chr9:101980276 GRCh38: Chr9:99217994	ALG2		ALG2-congenital disorder of glycosylation, Congenital myasthenic syndrome 14	Likely benign (Mar 22, 2022)	criteria provided, single submitter
Select item 163093367.	NM_033087.4(ALG2):c.33G>A (p.Ser11=) GRCh37: Chr9:101984144 GRCh38: Chr9:99221862	ALG2		ALG2-congenital disorder of glycosylation, Congenital myasthenic syndrome 14	Likely benign (Aug 22, 2022)	criteria provided, single submitter
Select item 162548268.	NM_033087.4(ALG2):c.348+8G>C GRCh37: Chr9:101983821 GRCh38: Chr9:99221539	ALG2		ALG2-congenital disorder of glycosylation, Congenital myasthenic syndrome 14	Likely benign (Aug 24, 2022)	criteria provided, single submitter
Select item 161518169.	NM_033087.4(ALG2):c.426G>C (p.Leu142=) GRCh37: Chr9:101981041 GRCh38: Chr9:99218759	ALG2		ALG2-congenital disorder of glycosylation, Congenital myasthenic syndrome 14	Likely benign (Nov 1, 2022)	criteria provided, single submitter
Select item 160743470.	NM_033087.4(ALG2):c.213C>T (p.Ala71=) GRCh37: Chr9:101983964 GRCh38: Chr9:99221682	ALG2		Congenital myasthenic syndrome 14, ALG2-congenital disorder of glycosylation	Likely benign (Feb 28, 2022)	criteria provided, single submitter
Select item 159302471.	NM_033087.4(ALG2):c.657A>C (p.Leu219=) GRCh37: Chr9:101980810 GRCh38: Chr9:99218528	ALG2		ALG2-congenital disorder of glycosylation, Congenital myasthenic syndrome 14	Likely benign (Sep 24, 2021)	criteria provided, single submitter
Select item 158925672.	NM_033087.4(ALG2):c.198A>G (p.Leu66=) GRCh37: Chr9:101983979 GRCh38: Chr9:99221697	ALG2		ALG2-congenital disorder of glycosylation, Congenital myasthenic syndrome 14	Likely benign (Dec 24, 2021)	criteria provided, single submitter
Select item 158215073.	NM_033087.4(ALG2):c.348+20G>C GRCh37: Chr9:101983809 GRCh38: Chr9:99221527	ALG2		ALG2-congenital disorder of glycosylation, Congenital myasthenic syndrome 14	Likely benign (Sep 15, 2022)	criteria provided, single submitter
Select item 158062374.	NM_033087.4(ALG2):c.69C>T (p.Asp23=) GRCh37: Chr9:101984108 GRCh38: Chr9:99221826	ALG2		ALG2-congenital disorder of glycosylation, Congenital myasthenic syndrome 14	Likely benign (Oct 2, 2021)	criteria provided, single submitter
Select item 158012275.	NM_033087.4(ALG2):c.6G>A (p.Ala2=) GRCh37: Chr9:101984171 GRCh38: Chr9:99221889	ALG2		ALG2-congenital disorder of glycosylation, Congenital myasthenic syndrome 14	Likely benign (Nov 11, 2021)	criteria provided, single submitter
Select item 157513976.	NM_033087.4(ALG2):c.70C>T (p.Leu24=) GRCh37: Chr9:101984107 GRCh38: Chr9:99221825	ALG2		Congenital myasthenic syndrome 14, ALG2-congenital disorder of glycosylation	Likely benign (Aug 3, 2021)	criteria provided, single submitter
Select item 154503777.	NM_033087.4(ALG2):c.348+14G>A GRCh37: Chr9:101983815 GRCh38: Chr9:99221533	ALG2		Congenital myasthenic syndrome 14, ALG2-congenital disorder of glycosylation	Likely benign (Mar 4, 2022)	criteria provided, single submitter
Select item 153587978.	NM_033087.4(ALG2):c.375G>A (p.Arg125=) GRCh37: Chr9:101981092 GRCh38: Chr9:99218810	ALG2		Congenital myasthenic syndrome 14, ALG2-congenital disorder of glycosylation	Likely benign (Feb 2, 2022)	criteria provided, single submitter
Select item 153431379.	NM_033087.4(ALG2):c.571C>T (p.Leu191=) GRCh37: Chr9:101980896 GRCh38: Chr9:99218614	ALG2		Congenital myasthenic syndrome 14, ALG2-congenital disorder of glycosylation	Likely benign (May 18, 2021)	criteria provided, single submitter
Select item 153168280.	NM_033087.4(ALG2):c.402A>G (p.Leu134=) GRCh37: Chr9:101981065 GRCh38: Chr9:99218783	ALG2		ALG2-congenital disorder of glycosylation, Congenital myasthenic syndrome 14	Likely benign (Dec 2, 2021)	criteria provided, single submitter
Select item 151992881.	NM_033087.4(ALG2):c.1025T>C (p.Ile342Thr) GRCh37: Chr9:101980442 GRCh38: Chr9:99218160	ALG2	I342T	Congenital myasthenic syndrome 14, ALG2-congenital disorder of glycosylation	Uncertain significance (Aug 23, 2022)	criteria provided, single submitter
Select item 151970182.	NM_033087.4(ALG2):c.217G>C (p.Asp73His) GRCh37: Chr9:101983960 GRCh38: Chr9:99221678	ALG2	D73H	Congenital myasthenic syndrome 14, ALG2-congenital disorder of glycosylation	Uncertain significance (Jul 6, 2022)	criteria provided, single submitter
Select item 151924583.	NM_033087.4(ALG2):c.264C>G (p.Val88=) GRCh37: Chr9:101983913 GRCh38: Chr9:99221631	ALG2		Congenital myasthenic syndrome 14, ALG2-congenital disorder of glycosylation	Likely benign (Sep 1, 2022)	criteria provided, single submitter
Select item 151921984.	NM_033087.4(ALG2):c.347A>G (p.Gln116Arg) GRCh37: Chr9:101983830 GRCh38: Chr9:99221548	ALG2	Q116R	Congenital myasthenic syndrome 14, ALG2-congenital disorder of glycosylation	Uncertain significance (Apr 25, 2022)	criteria provided, single submitter
Select item 151673385.	NM_033087.4(ALG2):c.619A>G (p.Ser207Gly) GRCh37: Chr9:101980848 GRCh38: Chr9:99218566	ALG2	S207G	ALG2-congenital disorder of glycosylation, Congenital myasthenic syndrome 14	Uncertain significance (Nov 16, 2021)	criteria provided, single submitter
Select item 151405586.	NM_033087.4(ALG2):c.76G>A (p.Val26Met) GRCh37: Chr9:101984101 GRCh38: Chr9:99221819	ALG2	V26M	ALG2-congenital disorder of glycosylation, Congenital myasthenic syndrome 14	Uncertain significance (Nov 1, 2022)	criteria provided, single submitter
Select item 151043887.	NM_033087.4(ALG2):c.507G>A (p.Met169Ile) GRCh37: Chr9:101980960 GRCh38: Chr9:99218678	ALG2	M169I	ALG2-congenital disorder of glycosylation, Congenital myasthenic syndrome 14	Uncertain significance (Aug 30, 2021)	criteria provided, single submitter
Select item 150941888.	NM_033087.4(ALG2):c.733G>A (p.Glu245Lys) GRCh37: Chr9:101980734 GRCh38: Chr9:99218452	ALG2	E245K	ALG2-congenital disorder of glycosylation, Congenital myasthenic syndrome 14	Uncertain significance (Jun 5, 2022)	criteria provided, single submitter
Select item 150740189.	NM_033087.4(ALG2):c.795C>G (p.Ile265Met) GRCh37: Chr9:101980672 GRCh38: Chr9:99218390	ALG2	I265M	Congenital myasthenic syndrome 14, ALG2-congenital disorder of glycosylation	Uncertain significance (Oct 17, 2022)	criteria provided, single submitter
Select item 150007190.	NM_033087.4(ALG2):c.185A>G (p.Glu62Gly) GRCh37: Chr9:101983992 GRCh38: Chr9:99221710	ALG2	E62G	ALG2-congenital disorder of glycosylation, Congenital myasthenic syndrome 14	Uncertain significance (Jul 29, 2022)	criteria provided, single submitter
Select item 149868591.	NM_033087.4(ALG2):c.180C>A (p.Phe60Leu) GRCh37: Chr9:101983997 GRCh38: Chr9:99221715	ALG2	F60L	ALG2-congenital disorder of glycosylation, Congenital myasthenic syndrome 14	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 149186292.	NM_033087.4(ALG2):c.764C>T (p.Thr255Ile) GRCh37: Chr9:101980703 GRCh38: Chr9:99218421	ALG2	T255I	ALG2-congenital disorder of glycosylation, Congenital myasthenic syndrome 14	Uncertain significance (Aug 17, 2022)	criteria provided, single submitter
Select item 149051193.	NM_033087.4(ALG2):c.572T>C (p.Leu191Pro) GRCh37: Chr9:101980895 GRCh38: Chr9:99218613	ALG2	L191P	ALG2-congenital disorder of glycosylation, Congenital myasthenic syndrome 14	Uncertain significance (Jul 26, 2022)	criteria provided, single submitter
Select item 148855694.	NM_033087.4(ALG2):c.168G>A (p.Pro56=) GRCh37: Chr9:101984009 GRCh38: Chr9:99221727	ALG2		ALG2-congenital disorder of glycosylation, Congenital myasthenic syndrome 14	Uncertain significance (Dec 3, 2021)	criteria provided, single submitter
Select item 148558495.	NM_033087.4(ALG2):c.599A>C (p.Tyr200Ser) GRCh37: Chr9:101980868 GRCh38: Chr9:99218586	ALG2	Y200S	ALG2-congenital disorder of glycosylation, Congenital myasthenic syndrome 14	Uncertain significance (Sep 24, 2021)	criteria provided, single submitter
Select item 148099696.	NM_033087.4(ALG2):c.1037C>T (p.Ser346Leu) GRCh37: Chr9:101980430 GRCh38: Chr9:99218148	ALG2	S346L	Inborn genetic diseases, Congenital myasthenic syndrome 14, ALG2-congenital disorder of glycosylation	Uncertain significance (Jan 6, 2023)	criteria provided, multiple submitters, no conflicts
Select item 147610097.	NM_033087.4(ALG2):c.1228T>C (p.Tyr410His) GRCh37: Chr9:101980239 GRCh38: Chr9:99217957	ALG2	Y410H	Congenital myasthenic syndrome 14, ALG2-congenital disorder of glycosylation	Uncertain significance (Jul 26, 2022)	criteria provided, single submitter
Select item 147242598.	NM_033087.4(ALG2):c.489G>C (p.Glu163Asp) GRCh37: Chr9:101980978 GRCh38: Chr9:99218696	ALG2	E163D	Congenital myasthenic syndrome 14, ALG2-congenital disorder of glycosylation	Uncertain significance (Oct 18, 2022)	criteria provided, single submitter
Select item 147158799.	NM_033087.4(ALG2):c.442_443del (p.Asp148fs) GRCh37: Chr9:101981024-101981025 GRCh38: Chr9:99218742-99218743	ALG2	D148fs	Congenital myasthenic syndrome 14, ALG2-congenital disorder of glycosylation	Uncertain significance (Jul 5, 2022)	criteria provided, single submitter
Select item 1464526100.	NM_033087.4(ALG2):c.16G>C (p.Gly6Arg) GRCh37: Chr9:101984161 GRCh38: Chr9:99221879	ALG2	G6R	Inborn genetic diseases, Congenital myasthenic syndrome 14, ALG2-congenital disorder of glycosylation	Uncertain significance (Sep 6, 2022)	criteria provided, multiple submitters, no conflicts

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