ClinVar for MedGen (Select 443956) - ClinVar

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Items: 95

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 21691351.	NM_002408.4(MGAT2):c.805T>C (p.Tyr269His) GRCh37: Chr14:50088791 GRCh38: Chr14:49622073	MGAT2	Y269H	MGAT2-congenital disorder of glycosylation	Uncertain significance (Oct 11, 2022)	criteria provided, single submitter
Select item 21154082.	NM_002408.4(MGAT2):c.781G>T (p.Asp261Tyr) GRCh37: Chr14:50088767 GRCh38: Chr14:49622049	MGAT2	D261Y	MGAT2-congenital disorder of glycosylation	Uncertain significance (Apr 24, 2022)	criteria provided, single submitter
Select item 20881223.	NM_002408.4(MGAT2):c.1016_1020del (p.Cys339fs) GRCh37: Chr14:50089000-50089004 GRCh38: Chr14:49622282-49622286	MGAT2	C339fs	MGAT2-congenital disorder of glycosylation	Uncertain significance (Jan 19, 2022)	criteria provided, single submitter
Select item 20833784.	NM_002408.4(MGAT2):c.216G>A (p.Ala72=) GRCh37: Chr14:50088202 GRCh38: Chr14:49621484	MGAT2		MGAT2-congenital disorder of glycosylation	Benign (Jul 26, 2022)	criteria provided, single submitter
Select item 20591915.	NM_002408.4(MGAT2):c.1234A>G (p.Thr412Ala) GRCh37: Chr14:50089220 GRCh38: Chr14:49622502	MGAT2	T412A	MGAT2-congenital disorder of glycosylation	Uncertain significance (Jul 12, 2022)	criteria provided, single submitter
Select item 19775636.	NM_002408.4(MGAT2):c.834G>A (p.Leu278=) GRCh37: Chr14:50088820 GRCh38: Chr14:49622102	MGAT2		MGAT2-congenital disorder of glycosylation	Likely benign (Jul 12, 2022)	criteria provided, single submitter
Select item 19699187.	NM_002408.4(MGAT2):c.1262C>T (p.Ala421Val) GRCh37: Chr14:50089248 GRCh38: Chr14:49622530	MGAT2	A421V	MGAT2-congenital disorder of glycosylation	Uncertain significance (Oct 17, 2022)	criteria provided, single submitter
Select item 19517568.	NM_002408.4(MGAT2):c.814T>C (p.Phe272Leu) GRCh37: Chr14:50088800 GRCh38: Chr14:49622082	MGAT2	F272L	MGAT2-congenital disorder of glycosylation	Uncertain significance (Jul 30, 2022)	criteria provided, single submitter
Select item 19436979.	NM_002408.4(MGAT2):c.848G>A (p.Cys283Tyr) GRCh37: Chr14:50088834 GRCh38: Chr14:49622116	MGAT2	C283Y	MGAT2-congenital disorder of glycosylation	Uncertain significance (Mar 11, 2022)	criteria provided, single submitter
Select item 193629810.	NM_002408.4(MGAT2):c.525G>A (p.Val175=) GRCh37: Chr14:50088511 GRCh38: Chr14:49621793	MGAT2		MGAT2-congenital disorder of glycosylation	Likely benign (Jun 1, 2022)	criteria provided, single submitter
Select item 160907811.	NM_002408.4(MGAT2):c.1104A>G (p.Gln368=) GRCh37: Chr14:50089090 GRCh38: Chr14:49622372	MGAT2		MGAT2-congenital disorder of glycosylation	Likely benign (Jun 1, 2021)	criteria provided, single submitter
Select item 139079712.	NM_002408.4(MGAT2):c.263C>G (p.Thr88Arg) GRCh37: Chr14:50088249 GRCh38: Chr14:49621531	MGAT2	T88R	MGAT2-congenital disorder of glycosylation	Uncertain significance (Oct 25, 2022)	criteria provided, single submitter
Select item 137892313.	NM_002408.4(MGAT2):c.766C>G (p.Leu256Val) GRCh37: Chr14:50088752 GRCh38: Chr14:49622034	MGAT2	L256V	MGAT2-congenital disorder of glycosylation	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 135310814.	NM_002408.4(MGAT2):c.315G>T (p.Arg105Ser) GRCh37: Chr14:50088301 GRCh38: Chr14:49621583	MGAT2	R105S	MGAT2-congenital disorder of glycosylation	Uncertain significance (Jun 28, 2022)	criteria provided, single submitter
Select item 115535415.	NM_002408.4(MGAT2):c.921A>G (p.Val307=) GRCh37: Chr14:50088907 GRCh38: Chr14:49622189	MGAT2		MGAT2-congenital disorder of glycosylation	Likely benign (Feb 17, 2022)	criteria provided, single submitter
Select item 105308216.	NM_002408.4(MGAT2):c.544C>G (p.Gln182Glu) GRCh37: Chr14:50088530 GRCh38: Chr14:49621812	MGAT2	Q182E	MGAT2-congenital disorder of glycosylation	Uncertain significance (Aug 24, 2021)	criteria provided, single submitter
Select item 104585817.	NM_002408.4(MGAT2):c.275G>T (p.Arg92Leu) GRCh37: Chr14:50088261 GRCh38: Chr14:49621543	MGAT2	R92L	MGAT2-congenital disorder of glycosylation	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 103350518.	NM_002408.4(MGAT2):c.327G>T (p.Lys109Asn) GRCh37: Chr14:50088313 GRCh38: Chr14:49621595	MGAT2	K109N	MGAT2-congenital disorder of glycosylation	Uncertain significance (Nov 20, 2018)	criteria provided, single submitter
Select item 102959419.	NM_002408.4(MGAT2):c.509G>A (p.Cys170Tyr) GRCh37: Chr14:50088495 GRCh38: Chr14:49621777	MGAT2	C170Y	MGAT2-congenital disorder of glycosylation	Uncertain significance (Jun 3, 2020)	criteria provided, single submitter
Select item 101744520.	NM_002408.4(MGAT2):c.206A>G (p.Asn69Ser) GRCh37: Chr14:50088192 GRCh38: Chr14:49621474	MGAT2	N69S	MGAT2-congenital disorder of glycosylation	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 97222421.	NM_002408.4(MGAT2):c.146G>A (p.Gly49Asp) GRCh37: Chr14:50088132 GRCh38: Chr14:49621414	MGAT2	G49D	MGAT2-congenital disorder of glycosylation	Uncertain significance (Aug 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 88409322.	NM_002408.4(MGAT2):c.302A>T (p.Asp101Val) GRCh37: Chr14:50088288 GRCh38: Chr14:49621570	MGAT2	D101V	MGAT2-congenital disorder of glycosylation	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88409223.	NM_002408.4(MGAT2):c.233C>T (p.Ala78Val) GRCh37: Chr14:50088219 GRCh38: Chr14:49621501	MGAT2	A78V	Inborn genetic diseases, MGAT2-congenital disorder of glycosylation	Uncertain significance (Jan 24, 2023)	criteria provided, multiple submitters, no conflicts
Select item 88409124.	NM_002408.4(MGAT2):c.105G>A (p.Glu35=) GRCh37: Chr14:50088091 GRCh38: Chr14:49621373	MGAT2		MGAT2-congenital disorder of glycosylation	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88409025.	NM_002408.4(MGAT2):c.66C>T (p.Phe22=) GRCh37: Chr14:50088052 GRCh38: Chr14:49621334	MGAT2		MGAT2-congenital disorder of glycosylation	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88328726.	NM_002408.4(MGAT2):c.48G>C (p.Val16=) GRCh37: Chr14:50088034 GRCh38: Chr14:49621316	MGAT2		MGAT2-congenital disorder of glycosylation	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88328627.	NM_002408.4(MGAT2):c.15C>G (p.Ile5Met) GRCh37: Chr14:50088001 GRCh38: Chr14:49621283	MGAT2	I5M	MGAT2-congenital disorder of glycosylation	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88328528.	NM_002408.4(MGAT2):c.-110G>C GRCh37: Chr14:50087877 GRCh38: Chr14:49621159	MGAT2		MGAT2-congenital disorder of glycosylation	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88328429.	NM_002408.4(MGAT2):c.-125C>G GRCh37: Chr14:50087862 GRCh38: Chr14:49621144	MGAT2		MGAT2-congenital disorder of glycosylation	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88244530.	NM_002408.4(MGAT2):c.*821C>T GRCh37: Chr14:50090151 GRCh38: Chr14:49623433	MGAT2		MGAT2-congenital disorder of glycosylation	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88244431.	NM_002408.4(MGAT2):c.*598T>C GRCh37: Chr14:50089928 GRCh38: Chr14:49623210	MGAT2		MGAT2-congenital disorder of glycosylation	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88244332.	NM_002408.4(MGAT2):c.*372A>T GRCh37: Chr14:50089702 GRCh38: Chr14:49622984	MGAT2		MGAT2-congenital disorder of glycosylation	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88219833.	NM_002408.4(MGAT2):c.*228A>G GRCh37: Chr14:50089558 GRCh38: Chr14:49622840	MGAT2		MGAT2-congenital disorder of glycosylation	Benign (Apr 27, 2017)	criteria provided, single submitter
Select item 88219734.	NM_002408.4(MGAT2):c.*210C>A GRCh37: Chr14:50089540 GRCh38: Chr14:49622822	MGAT2		MGAT2-congenital disorder of glycosylation	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88219635.	NM_002408.4(MGAT2):c.*189T>G GRCh37: Chr14:50089519 GRCh38: Chr14:49622801	MGAT2		MGAT2-congenital disorder of glycosylation	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88219536.	NM_002408.4(MGAT2):c.*144C>A GRCh37: Chr14:50089474 GRCh38: Chr14:49622756	MGAT2		MGAT2-congenital disorder of glycosylation	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88213937.	NM_002408.4(MGAT2):c.-190G>A GRCh37: Chr14:50087797 GRCh38: Chr14:49621079	MGAT2		MGAT2-congenital disorder of glycosylation	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88213838.	NM_002408.4(MGAT2):c.-304C>A GRCh37: Chr14:50087683 GRCh38: Chr14:49620965	MGAT2		MGAT2-congenital disorder of glycosylation	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88080339.	NM_002408.4(MGAT2):c.866T>A (p.Leu289His) GRCh37: Chr14:50088852 GRCh38: Chr14:49622134	MGAT2	L289H	MGAT2-congenital disorder of glycosylation	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88080240.	NM_002408.4(MGAT2):c.764T>C (p.Ile255Thr) GRCh37: Chr14:50088750 GRCh38: Chr14:49622032	MGAT2	I255T	MGAT2-congenital disorder of glycosylation	Uncertain significance (Nov 15, 2021)	criteria provided, multiple submitters, no conflicts
Select item 88080141.	NM_002408.4(MGAT2):c.590C>A (p.Pro197His) GRCh37: Chr14:50088576 GRCh38: Chr14:49621858	MGAT2	P197H	MGAT2-congenital disorder of glycosylation	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88080042.	NM_002408.4(MGAT2):c.354G>A (p.Leu118=) GRCh37: Chr14:50088340 GRCh38: Chr14:49621622	MGAT2		MGAT2-congenital disorder of glycosylation	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88073843.	NM_002408.3(MGAT2):c.-486C>G GRCh37: Chr14:50087501 GRCh38: Chr14:49620783	MGAT2		MGAT2-congenital disorder of glycosylation	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 88073744.	NM_002408.3(MGAT2):c.-494C>T GRCh37: Chr14:50087493 GRCh38: Chr14:49620775	MGAT2		MGAT2-congenital disorder of glycosylation	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88073645.	NM_002408.3(MGAT2):c.-495C>T GRCh37: Chr14:50087492 GRCh38: Chr14:49620774	MGAT2		MGAT2-congenital disorder of glycosylation	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 70282846.	NM_002408.4(MGAT2):c.229C>T (p.Pro77Ser) GRCh37: Chr14:50088215 GRCh38: Chr14:49621497	MGAT2	P77S	MGAT2-congenital disorder of glycosylation	Conflicting interpretations of pathogenicity (Jul 12, 2022)	criteria provided, conflicting interpretations
Select item 68211547.	NM_002408.4(MGAT2):c.1290G>A (p.Gly430=) GRCh37: Chr14:50089276 GRCh38: Chr14:49622558	MGAT2		not provided, MGAT2-congenital disorder of glycosylation	Likely benign (Nov 4, 2020)	criteria provided, multiple submitters, no conflicts
Select item 65356248.	NM_002408.4(MGAT2):c.250G>T (p.Ala84Ser) GRCh37: Chr14:50088236 GRCh38: Chr14:49621518	MGAT2	A84S	MGAT2-congenital disorder of glycosylation	Uncertain significance (Jan 14, 2022)	criteria provided, single submitter
Select item 64800049.	NM_002408.4(MGAT2):c.850C>T (p.Pro284Ser) GRCh37: Chr14:50088836 GRCh38: Chr14:49622118	MGAT2	P284S	MGAT2-congenital disorder of glycosylation	Uncertain significance (Feb 4, 2022)	criteria provided, single submitter
Select item 63915750.	NM_002408.4(MGAT2):c.68T>C (p.Val23Ala) GRCh37: Chr14:50088054 GRCh38: Chr14:49621336	MGAT2	V23A	MGAT2-congenital disorder of glycosylation	Uncertain significance (Aug 27, 2021)	criteria provided, multiple submitters, no conflicts
Select item 63503651.	NM_002408.4(MGAT2):c.797C>T (p.Pro266Leu) GRCh37: Chr14:50088783 GRCh38: Chr14:49622065	MGAT2	P266L	MGAT2-congenital disorder of glycosylation	Uncertain significance (Jun 15, 2018)	criteria provided, single submitter
Select item 63503552.	NM_002408.4(MGAT2):c.511C>A (p.Pro171Thr) GRCh37: Chr14:50088497 GRCh38: Chr14:49621779	MGAT2	P171T	MGAT2-congenital disorder of glycosylation	Uncertain significance (Jun 15, 2018)	criteria provided, single submitter
Select item 61766153.	NM_002408.4(MGAT2):c.799G>C (p.Asp267His) GRCh37: Chr14:50088785 GRCh38: Chr14:49622067	MGAT2	D267H	MGAT2-congenital disorder of glycosylation	Pathogenic	no assertion criteria provided
Select item 61765854.	NM_002408.4(MGAT2):c.91C>T (p.Gln31Ter) GRCh37: Chr14:50088077 GRCh38: Chr14:49621359	MGAT2	Q31*	MGAT2-congenital disorder of glycosylation	Pathogenic	no assertion criteria provided
Select item 61765755.	NM_002408.4(MGAT2):c.753dup (p.Ala252fs) GRCh37: Chr14:50088738-50088739 GRCh38: Chr14:49622020-49622021	MGAT2	A252fs	MGAT2-congenital disorder of glycosylation	Pathogenic	no assertion criteria provided
Select item 61765656.	NM_002408.4(MGAT2):c.1120C>T (p.His374Tyr) GRCh37: Chr14:50089106 GRCh38: Chr14:49622388	MGAT2	H374Y	MGAT2-congenital disorder of glycosylation	Pathogenic	no assertion criteria provided
Select item 57351257.	NM_002408.4(MGAT2):c.232G>A (p.Ala78Thr) GRCh37: Chr14:50088218 GRCh38: Chr14:49621500	MGAT2	A78T	Inborn genetic diseases, MGAT2-congenital disorder of glycosylation	Uncertain significance (Apr 21, 2023)	criteria provided, multiple submitters, no conflicts
Select item 56899658.	NM_002408.4(MGAT2):c.862G>A (p.Val288Ile) GRCh37: Chr14:50088848 GRCh38: Chr14:49622130	MGAT2	V288I	MGAT2-congenital disorder of glycosylation	Uncertain significance (Jun 12, 2018)	criteria provided, single submitter
Select item 53039259.	NM_002408.4(MGAT2):c.688A>C (p.Thr230Pro) GRCh37: Chr14:50088674 GRCh38: Chr14:49621956	MGAT2	T230P	MGAT2-congenital disorder of glycosylation	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 51420560.	NM_002408.4(MGAT2):c.153C>T (p.Gly51=) GRCh37: Chr14:50088139 GRCh38: Chr14:49621421	MGAT2		MGAT2-congenital disorder of glycosylation, not specified	Likely benign (Sep 15, 2019)	criteria provided, multiple submitters, no conflicts
Select item 46118961.	NM_002408.4(MGAT2):c.768T>G (p.Leu256=) GRCh37: Chr14:50088754 GRCh38: Chr14:49622036	MGAT2		not provided, MGAT2-congenital disorder of glycosylation	Benign/Likely benign (Sep 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 38934762.	NM_002408.4(MGAT2):c.1023T>C (p.Tyr341=) GRCh37: Chr14:50089009 GRCh38: Chr14:49622291	MGAT2		not specified, MGAT2-congenital disorder of glycosylation	Conflicting interpretations of pathogenicity (Nov 30, 2021)	criteria provided, conflicting interpretations
Select item 38567763.	NM_002408.4(MGAT2):c.609T>C (p.Asn203=) GRCh37: Chr14:50088595 GRCh38: Chr14:49621877	MGAT2		not specified, MGAT2-congenital disorder of glycosylation	Benign/Likely benign (Sep 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 31326964.	NM_002408.4(MGAT2):c.*825A>G GRCh37: Chr14:50090155 GRCh38: Chr14:49623437	MGAT2		MGAT2-congenital disorder of glycosylation	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31326865.	NM_002408.4(MGAT2):c.*791G>A GRCh37: Chr14:50090121 GRCh38: Chr14:49623403	MGAT2		MGAT2-congenital disorder of glycosylation	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31326666.	NM_002408.4(MGAT2):c.*722T>C GRCh37: Chr14:50090052 GRCh38: Chr14:49623334	MGAT2		MGAT2-congenital disorder of glycosylation	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31326267.	NM_002408.4(MGAT2):c.*579C>T GRCh37: Chr14:50089909 GRCh38: Chr14:49623191	MGAT2		MGAT2-congenital disorder of glycosylation	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31326168.	NM_002408.4(MGAT2):c.*366C>G GRCh37: Chr14:50089696 GRCh38: Chr14:49622978	MGAT2		Congenital disorder of glycosylation, MGAT2-congenital disorder of glycosylation	Conflicting interpretations of pathogenicity (Jan 13, 2018)	criteria provided, conflicting interpretations
Select item 31326069.	NM_002408.4(MGAT2):c.*310A>G GRCh37: Chr14:50089640 GRCh38: Chr14:49622922	MGAT2		MGAT2-congenital disorder of glycosylation	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31325870.	NM_002408.4(MGAT2):c.1233A>T (p.Leu411=) GRCh37: Chr14:50089219 GRCh38: Chr14:49622501	MGAT2		Congenital disorder of glycosylation, not specified, MGAT2-congenital disorder of glycosylation	Conflicting interpretations of pathogenicity (Mar 19, 2020)	criteria provided, conflicting interpretations
Select item 31325771.	NM_002408.4(MGAT2):c.971C>G (p.Thr324Ser) GRCh37: Chr14:50088957 GRCh38: Chr14:49622239	MGAT2	T324S	MGAT2-congenital disorder of glycosylation	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31325672.	NM_002408.4(MGAT2):c.360G>A (p.Leu120=) GRCh37: Chr14:50088346 GRCh38: Chr14:49621628	MGAT2		not specified, MGAT2-congenital disorder of glycosylation	Benign (Aug 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 31325573.	NM_002408.4(MGAT2):c.261G>T (p.Leu87=) GRCh37: Chr14:50088247 GRCh38: Chr14:49621529	DNAAF2, MGAT2		not specified, Ciliary dyskinesia, Congenital disorder of glycosylation, MGAT2-congenital disorder of glycosylation	Benign/Likely benign (Sep 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 31325474.	NM_002408.4(MGAT2):c.63C>T (p.Gly21=) GRCh37: Chr14:50088049 GRCh38: Chr14:49621331	MGAT2		not specified, MGAT2-congenital disorder of glycosylation	Conflicting interpretations of pathogenicity (Oct 17, 2022)	criteria provided, conflicting interpretations
Select item 31325275.	NM_002408.4(MGAT2):c.-121C>G GRCh37: Chr14:50087866 GRCh38: Chr14:49621148	MGAT2		MGAT2-congenital disorder of glycosylation	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 31325176.	NM_002408.4(MGAT2):c.-143G>C GRCh37: Chr14:50087844 GRCh38: Chr14:49621126	MGAT2		MGAT2-congenital disorder of glycosylation	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31325077.	NM_002408.4(MGAT2):c.-161C>G GRCh37: Chr14:50087826 GRCh38: Chr14:49621108	MGAT2		MGAT2-congenital disorder of glycosylation	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 31324978.	NM_002408.4(MGAT2):c.-234T>C GRCh37: Chr14:50087753 GRCh38: Chr14:49621035	DNAAF2, MGAT2		not provided, Ciliary dyskinesia, Congenital disorder of glycosylation, MGAT2-congenital disorder of glycosylation	Benign (Jun 29, 2018)	criteria provided, multiple submitters, no conflicts
Select item 31324879.	NM_002408.4(MGAT2):c.-296C>T GRCh37: Chr14:50087691 GRCh38: Chr14:49620973	MGAT2		MGAT2-congenital disorder of glycosylation	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31324780.	NM_002408.4(MGAT2):c.-338C>T GRCh37: Chr14:50087649 GRCh38: Chr14:49620931	MGAT2		MGAT2-congenital disorder of glycosylation	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 31324681.	NM_002408.4(MGAT2):c.-350C>G GRCh37: Chr14:50087637 GRCh38: Chr14:49620919	MGAT2		MGAT2-congenital disorder of glycosylation	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31324582.	NM_002408.4(MGAT2):c.-351G>T GRCh37: Chr14:50087636 GRCh38: Chr14:49620918	DNAAF2, MGAT2		not provided, Ciliary dyskinesia, Congenital disorder of glycosylation, MGAT2-congenital disorder of glycosylation	Benign/Likely benign (Jul 2, 2019)	criteria provided, multiple submitters, no conflicts
Select item 31324483.	NM_002408.4(MGAT2):c.-360G>T GRCh37: Chr14:50087627 GRCh38: Chr14:49620909	MGAT2		MGAT2-congenital disorder of glycosylation	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31324384.	NM_002408.4(MGAT2):c.-425C>T GRCh37: Chr14:50087562 GRCh38: Chr14:49620844	MGAT2		MGAT2-congenital disorder of glycosylation	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31324285.	NM_002408.4(MGAT2):c.-429G>A GRCh37: Chr14:50087558 GRCh38: Chr14:49620840	MGAT2		MGAT2-congenital disorder of glycosylation	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31324186.	NM_002408.4(MGAT2):c.-443C>T GRCh37: Chr14:50087544 GRCh38: Chr14:49620826	MGAT2		not provided, MGAT2-congenital disorder of glycosylation, Congenital disorder of glycosylation	Conflicting interpretations of pathogenicity (Mar 6, 2020)	criteria provided, conflicting interpretations
Select item 31324087.	NM_002408.4(MGAT2):c.-446C>G GRCh37: Chr14:50087541 GRCh38: Chr14:49620823	MGAT2		MGAT2-congenital disorder of glycosylation	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31323988.	NM_002408.4(MGAT2):c.-455C>T GRCh37: Chr14:50087532 GRCh38: Chr14:49620814	MGAT2		MGAT2-congenital disorder of glycosylation	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 21860789.	NM_002408.4(MGAT2):c.99G>T (p.Lys33Asn) GRCh37: Chr14:50088085 GRCh38: Chr14:49621367	MGAT2	K33N	Inborn genetic diseases, not specified, not provided, MGAT2-congenital disorder of glycosylation	Conflicting interpretations of pathogenicity (Oct 26, 2022)	criteria provided, conflicting interpretations
Select item 9406290.	NM_002408.4(MGAT2):c.733G>C (p.Val245Leu) GRCh37: Chr14:50088719 GRCh38: Chr14:49622001	MGAT2	V245L	MGAT2-congenital disorder of glycosylation, not provided	Uncertain significance (Aug 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 3027091.	NM_002408.4(MGAT2):c.711G>C (p.Lys237Asn) GRCh37: Chr14:50088697 GRCh38: Chr14:49621979	MGAT2	K237N	MGAT2-congenital disorder of glycosylation	Likely pathogenic (Jun 21, 2022)	criteria provided, single submitter
Select item 699292.	NM_002408.4(MGAT2):c.1017T>A (p.Cys339Ter) GRCh37: Chr14:50089003 GRCh38: Chr14:49622285	MGAT2	C339*	MGAT2-congenital disorder of glycosylation	Pathogenic (Nov 1, 2000)	no assertion criteria provided
Select item 699193.	NM_002408.4(MGAT2):c.952A>G (p.Asn318Asp) GRCh37: Chr14:50088938 GRCh38: Chr14:49622220	MGAT2	N318D	MGAT2-congenital disorder of glycosylation	Pathogenic (Nov 1, 2000)	no assertion criteria provided
Select item 699094.	NM_002408.4(MGAT2):c.785A>G (p.His262Arg) GRCh37: Chr14:50088771 GRCh38: Chr14:49622053	MGAT2	H262R	MGAT2-congenital disorder of glycosylation	Pathogenic (Oct 1, 1996)	no assertion criteria provided
Select item 698995.	NM_002408.3(MGAT2):c.869C>T (p.Ser290Phe) GRCh37: Chr14:50088855 GRCh38: Chr14:49622137	MGAT2	S290F	MGAT2-congenital disorder of glycosylation	Pathogenic (Oct 1, 1996)	no assertion criteria provided

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Items: 95