ClinVar for MedGen (Select 342954) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25064261.	NM_006302.3(MOGS):c.2305T>C (p.Tyr769His) GRCh37: Chr2:74688611 GRCh38: Chr2:74461484	MOGS	Y663H, Y769H	MOGS-congenital disorder of glycosylation	Likely pathogenic	criteria provided, single submitter
Select item 25007702.	NM_006302.3(MOGS):c.1225G>A (p.Gly409Arg) GRCh37: Chr2:74689691 GRCh38: Chr2:74462564	MOGS	G303R, G409R	MOGS-congenital disorder of glycosylation	Uncertain significance (Nov 5, 2020)	criteria provided, single submitter
Select item 24337793.	NM_006302.3(MOGS):c.170T>C (p.Met57Thr) GRCh37: Chr2:74692205 GRCh38: Chr2:74465078	MOGS	M57T	MOGS-congenital disorder of glycosylation	Uncertain significance (Jan 22, 2019)	criteria provided, single submitter
Select item 24255614.	NC_000002.11:g.(?_72359356)_(74779761_?)del GRCh37: Chr2:72359356-74779761	ACTG2, ALMS1, AUP1, BOLA3, C2orf78, C2orf81, CCDC142, CCT7, CYP26B1, DCTN1, DGUOK, DOK1, DQX1, DUSP11, EGR4, EMX1, EXOC6B, FBXO41, HTRA2, INO80B, LBX2, LOXL3, MOB1A, MOGS, MRPL53, MTHFD2, NAT8, NAT8B, NOTO, PCGF1, PRADC1, RAB11FIP5, RTKN, SFXN5, SLC4A5, SMYD5, SPR, STAMBP, TET3, TLX2, TPRKB, TTC31, WBP1, WDR54		not provided, MOGS-congenital disorder of glycosylation	Pathogenic (May 29, 2022)	criteria provided, single submitter
Select item 24220835.	NM_006302.3(MOGS):c.662T>C (p.Val221Ala) GRCh37: Chr2:74690431 GRCh38: Chr2:74463304	MOGS	V115A, V221A	MOGS-congenital disorder of glycosylation	Uncertain significance (Jul 14, 2022)	criteria provided, single submitter
Select item 24213976.	NM_006302.3(MOGS):c.876C>T (p.Ala292=) GRCh37: Chr2:74690040 GRCh38: Chr2:74462913	MOGS		MOGS-congenital disorder of glycosylation	Likely benign (Aug 28, 2022)	criteria provided, single submitter
Select item 24209127.	NM_006302.3(MOGS):c.1795G>C (p.Asp599His) GRCh37: Chr2:74689121 GRCh38: Chr2:74461994	MOGS	D493H, D599H	MOGS-congenital disorder of glycosylation	Uncertain significance (Jul 6, 2022)	criteria provided, single submitter
Select item 24196698.	NM_006302.3(MOGS):c.2458C>T (p.Arg820Cys) GRCh37: Chr2:74688458 GRCh38: Chr2:74461331	MOGS	R714C, R820C	MOGS-congenital disorder of glycosylation	Uncertain significance (May 27, 2022)	criteria provided, single submitter
Select item 24147449.	NM_006302.3(MOGS):c.14A>G (p.Glu5Gly) GRCh37: Chr2:74692361 GRCh38: Chr2:74465234	MOGS	E5G	MOGS-congenital disorder of glycosylation	Uncertain significance (Jun 23, 2022)	criteria provided, single submitter
Select item 220667410.	NM_006302.3(MOGS):c.434C>T (p.Pro145Leu) GRCh37: Chr2:74691768 GRCh38: Chr2:74464641	MOGS	P145L, P39L	MOGS-congenital disorder of glycosylation, Inborn genetic diseases	Uncertain significance (Jul 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 220310711.	NM_006302.3(MOGS):c.832_833del (p.Lys278fs) GRCh37: Chr2:74690083-74690084 GRCh38: Chr2:74462956-74462957	MOGS	K172fs, K278fs	MOGS-congenital disorder of glycosylation	Pathogenic (Jan 3, 2022)	criteria provided, single submitter
Select item 220084412.	NM_006302.3(MOGS):c.2422C>T (p.Gln808Ter) GRCh37: Chr2:74688494 GRCh38: Chr2:74461367	MOGS	Q702, Q808	MOGS-congenital disorder of glycosylation	Uncertain significance (Jul 21, 2022)	criteria provided, single submitter
Select item 219628513.	NM_006302.3(MOGS):c.17G>A (p.Arg6Gln) GRCh37: Chr2:74692358 GRCh38: Chr2:74465231	MOGS	R6Q	MOGS-congenital disorder of glycosylation	Uncertain significance (Jun 25, 2022)	criteria provided, single submitter
Select item 219417814.	NM_006302.3(MOGS):c.1603C>T (p.Arg535Ter) GRCh37: Chr2:74689313 GRCh38: Chr2:74462186	MOGS	R429, R535	MOGS-congenital disorder of glycosylation	Likely pathogenic (Feb 4, 2022)	criteria provided, single submitter
Select item 218987015.	NM_006302.3(MOGS):c.1219G>A (p.Gly407Arg) GRCh37: Chr2:74689697 GRCh38: Chr2:74462570	MOGS	G301R, G407R	Inborn genetic diseases, MOGS-congenital disorder of glycosylation	Uncertain significance (Dec 22, 2021)	criteria provided, multiple submitters, no conflicts
Select item 218479216.	NM_006302.3(MOGS):c.216C>T (p.Val72=) GRCh37: Chr2:74692159 GRCh38: Chr2:74465032	MOGS		MOGS-congenital disorder of glycosylation	Likely benign (Sep 6, 2022)	criteria provided, single submitter
Select item 217777817.	NM_006302.3(MOGS):c.90G>A (p.Arg30=) GRCh37: Chr2:74692285 GRCh38: Chr2:74465158	MOGS		MOGS-congenital disorder of glycosylation	Likely benign (Jan 4, 2022)	criteria provided, single submitter
Select item 217763718.	NM_006302.3(MOGS):c.1250T>C (p.Val417Ala) GRCh37: Chr2:74689666 GRCh38: Chr2:74462539	MOGS	V311A, V417A	MOGS-congenital disorder of glycosylation	Uncertain significance (Jun 22, 2022)	criteria provided, single submitter
Select item 217718219.	NM_006302.3(MOGS):c.2115C>T (p.Thr705=) GRCh37: Chr2:74688801 GRCh38: Chr2:74461674	MOGS		MOGS-congenital disorder of glycosylation	Likely benign (Dec 19, 2021)	criteria provided, single submitter
Select item 217486520.	NM_006302.3(MOGS):c.2471G>A (p.Gly824Asp) GRCh37: Chr2:74688445 GRCh38: Chr2:74461318	MOGS	G718D, G824D	MOGS-congenital disorder of glycosylation	Uncertain significance (Jan 12, 2022)	criteria provided, single submitter
Select item 216733921.	NM_006302.3(MOGS):c.595G>A (p.Ala199Thr) GRCh37: Chr2:74690498 GRCh38: Chr2:74463371	MOGS	A93T, A199T	MOGS-congenital disorder of glycosylation	Uncertain significance (Dec 7, 2021)	criteria provided, single submitter
Select item 216689422.	NM_006302.3(MOGS):c.1298C>T (p.Pro433Leu) GRCh37: Chr2:74689618 GRCh38: Chr2:74462491	MOGS	P327L, P433L	MOGS-congenital disorder of glycosylation	Uncertain significance (Jun 18, 2022)	criteria provided, single submitter
Select item 216183023.	NM_006302.3(MOGS):c.422del (p.Asp141fs) GRCh37: Chr2:74691780 GRCh38: Chr2:74464653	MOGS	D35fs, D141fs	MOGS-congenital disorder of glycosylation	Pathogenic (Aug 10, 2022)	criteria provided, single submitter
Select item 215936224.	NM_006302.3(MOGS):c.208C>G (p.Arg70Gly) GRCh37: Chr2:74692167 GRCh38: Chr2:74465040	MOGS	R70G	MOGS-congenital disorder of glycosylation	Uncertain significance (Apr 10, 2022)	criteria provided, single submitter
Select item 215747825.	NM_006302.3(MOGS):c.1949G>A (p.Gly650Glu) GRCh37: Chr2:74688967 GRCh38: Chr2:74461840	MOGS	G544E, G650E	MOGS-congenital disorder of glycosylation	Uncertain significance (Feb 18, 2022)	criteria provided, single submitter
Select item 215582126.	NM_006302.3(MOGS):c.2252G>A (p.Arg751Gln) GRCh37: Chr2:74688664 GRCh38: Chr2:74461537	MOGS	R645Q, R751Q	MOGS-congenital disorder of glycosylation	Uncertain significance (Sep 17, 2022)	criteria provided, single submitter
Select item 214979027.	NM_006302.3(MOGS):c.136C>T (p.Leu46=) GRCh37: Chr2:74692239 GRCh38: Chr2:74465112	MOGS		MOGS-congenital disorder of glycosylation	Likely benign (Jan 15, 2022)	criteria provided, single submitter
Select item 214858628.	NM_006302.3(MOGS):c.2321G>T (p.Gly774Val) GRCh37: Chr2:74688595 GRCh38: Chr2:74461468	MOGS	G774V, G668V	MOGS-congenital disorder of glycosylation	Uncertain significance (Mar 18, 2022)	criteria provided, single submitter
Select item 213545829.	NM_006302.3(MOGS):c.704G>A (p.Ser235Asn) GRCh37: Chr2:74690389 GRCh38: Chr2:74463262	MOGS	S129N, S235N	MOGS-congenital disorder of glycosylation	Uncertain significance (May 9, 2022)	criteria provided, single submitter
Select item 213134230.	NM_006302.3(MOGS):c.454G>C (p.Asp152His) GRCh37: Chr2:74691748 GRCh38: Chr2:74464621	MOGS	D46H, D152H	MOGS-congenital disorder of glycosylation	Uncertain significance (Aug 19, 2022)	criteria provided, single submitter
Select item 212804031.	NM_006302.3(MOGS):c.602C>T (p.Pro201Leu) GRCh37: Chr2:74690491 GRCh38: Chr2:74463364	MOGS	P201L, P95L	MOGS-congenital disorder of glycosylation	Uncertain significance (Aug 19, 2022)	criteria provided, single submitter
Select item 212165432.	NM_006302.3(MOGS):c.476A>C (p.Gln159Pro) GRCh37: Chr2:74691726 GRCh38: Chr2:74464599	MOGS	Q159P, Q53P	MOGS-congenital disorder of glycosylation	Uncertain significance (Apr 4, 2022)	criteria provided, single submitter
Select item 211566833.	NM_006302.3(MOGS):c.1857T>G (p.Gly619=) GRCh37: Chr2:74689059 GRCh38: Chr2:74461932	MOGS		MOGS-congenital disorder of glycosylation	Likely benign (Apr 8, 2022)	criteria provided, single submitter
Select item 210942834.	NM_006302.3(MOGS):c.35C>T (p.Pro12Leu) GRCh37: Chr2:74692340 GRCh38: Chr2:74465213	MOGS	P12L	MOGS-congenital disorder of glycosylation	Uncertain significance (Mar 11, 2022)	criteria provided, single submitter
Select item 210086735.	NM_006302.3(MOGS):c.352+9G>A GRCh37: Chr2:74692014 GRCh38: Chr2:74464887	MOGS		MOGS-congenital disorder of glycosylation	Likely benign (Sep 7, 2022)	criteria provided, single submitter
Select item 209989336.	NM_006302.3(MOGS):c.1520C>T (p.Ala507Val) GRCh37: Chr2:74689396 GRCh38: Chr2:74462269	MOGS	A401V, A507V	MOGS-congenital disorder of glycosylation	Uncertain significance (Jul 19, 2022)	criteria provided, single submitter
Select item 209637937.	NM_006302.3(MOGS):c.1142dup (p.Leu383fs) GRCh37: Chr2:74689773-74689774 GRCh38: Chr2:74462646-74462647	MOGS	L277fs, L383fs	MOGS-congenital disorder of glycosylation	Pathogenic (Oct 28, 2022)	criteria provided, single submitter
Select item 209047738.	NM_006302.3(MOGS):c.568G>A (p.Val190Ile) GRCh37: Chr2:74691634 GRCh38: Chr2:74464507	MOGS	V84I, V190I	MOGS-congenital disorder of glycosylation	Uncertain significance (Feb 19, 2022)	criteria provided, single submitter
Select item 208807239.	NM_006302.3(MOGS):c.712G>C (p.Gly238Arg) GRCh37: Chr2:74690381 GRCh38: Chr2:74463254	MOGS	G238R, G132R	MOGS-congenital disorder of glycosylation	Uncertain significance (Jun 20, 2022)	criteria provided, single submitter
Select item 208802440.	NM_006302.3(MOGS):c.1196T>C (p.Leu399Pro) GRCh37: Chr2:74689720 GRCh38: Chr2:74462593	MOGS	L399P, L293P	MOGS-congenital disorder of glycosylation	Uncertain significance (Jan 19, 2022)	criteria provided, single submitter
Select item 207598041.	NM_006302.3(MOGS):c.2097G>T (p.Leu699=) GRCh37: Chr2:74688819 GRCh38: Chr2:74461692	MOGS		MOGS-congenital disorder of glycosylation	Likely benign (Jul 18, 2022)	criteria provided, single submitter
Select item 207336942.	NM_006302.3(MOGS):c.949G>A (p.Gly317Arg) GRCh37: Chr2:74689967 GRCh38: Chr2:74462840	MOGS	G211R, G317R	MOGS-congenital disorder of glycosylation	Uncertain significance (Feb 6, 2022)	criteria provided, single submitter
Select item 207133743.	NM_006302.3(MOGS):c.2051A>C (p.Gln684Pro) GRCh37: Chr2:74688865 GRCh38: Chr2:74461738	MOGS	Q684P, Q578P	MOGS-congenital disorder of glycosylation	Uncertain significance (Jul 23, 2022)	criteria provided, single submitter
Select item 206770544.	NM_006302.3(MOGS):c.1682G>A (p.Arg561His) GRCh37: Chr2:74689234 GRCh38: Chr2:74462107	MOGS	R455H, R561H	MOGS-congenital disorder of glycosylation	Uncertain significance (Jul 3, 2022)	criteria provided, single submitter
Select item 206636145.	NM_006302.3(MOGS):c.418G>A (p.Gly140Arg) GRCh37: Chr2:74691784 GRCh38: Chr2:74464657	MOGS	G140R, G34R	MOGS-congenital disorder of glycosylation	Uncertain significance (Jul 6, 2022)	criteria provided, single submitter
Select item 206588546.	NM_006302.3(MOGS):c.2013G>T (p.Gly671=) GRCh37: Chr2:74688903 GRCh38: Chr2:74461776	MOGS		MOGS-congenital disorder of glycosylation	Likely benign (Oct 27, 2022)	criteria provided, single submitter
Select item 206404447.	NM_006302.3(MOGS):c.1108G>A (p.Glu370Lys) GRCh37: Chr2:74689808 GRCh38: Chr2:74462681	MOGS	E264K, E370K	MOGS-congenital disorder of glycosylation	Uncertain significance (Dec 28, 2021)	criteria provided, single submitter
Select item 206395548.	NM_006302.3(MOGS):c.2493G>A (p.Leu831=) GRCh37: Chr2:74688423 GRCh38: Chr2:74461296	MOGS		MOGS-congenital disorder of glycosylation	Likely benign (Oct 17, 2022)	criteria provided, single submitter
Select item 206216749.	NM_006302.3(MOGS):c.2213A>G (p.Tyr738Cys) GRCh37: Chr2:74688703 GRCh38: Chr2:74461576	MOGS	Y738C, Y632C	MOGS-congenital disorder of glycosylation	Uncertain significance (Mar 17, 2022)	criteria provided, single submitter
Select item 205389250.	NM_006302.3(MOGS):c.2346A>G (p.Lys782=) GRCh37: Chr2:74688570 GRCh38: Chr2:74461443	MOGS		MOGS-congenital disorder of glycosylation	Likely benign (Jul 19, 2022)	criteria provided, single submitter
Select item 205343651.	NM_006302.3(MOGS):c.1445G>C (p.Gly482Ala) GRCh37: Chr2:74689471 GRCh38: Chr2:74462344	MOGS	G376A, G482A	MOGS-congenital disorder of glycosylation	Uncertain significance (Jul 19, 2022)	criteria provided, single submitter
Select item 204177352.	NM_006302.3(MOGS):c.237T>A (p.Pro79=) GRCh37: Chr2:74692138 GRCh38: Chr2:74465011	MOGS		MOGS-congenital disorder of glycosylation	Uncertain significance (Dec 16, 2021)	criteria provided, single submitter
Select item 202358453.	NM_006302.3(MOGS):c.2235T>C (p.His745=) GRCh37: Chr2:74688681 GRCh38: Chr2:74461554	MOGS		MOGS-congenital disorder of glycosylation	Likely benign (Aug 11, 2022)	criteria provided, single submitter
Select item 202218454.	NM_006302.3(MOGS):c.1204del (p.Ile402fs) GRCh37: Chr2:74689712 GRCh38: Chr2:74462585	MOGS	I402fs, I296fs	MOGS-congenital disorder of glycosylation	Pathogenic (Oct 8, 2022)	criteria provided, single submitter
Select item 201904355.	NM_006302.3(MOGS):c.2010G>A (p.Gln670=) GRCh37: Chr2:74688906 GRCh38: Chr2:74461779	MOGS		MOGS-congenital disorder of glycosylation	Likely benign (Jul 23, 2022)	criteria provided, single submitter
Select item 201344756.	NM_006302.3(MOGS):c.676C>A (p.Gln226Lys) GRCh37: Chr2:74690417 GRCh38: Chr2:74463290	MOGS	Q120K, Q226K	MOGS-congenital disorder of glycosylation	Uncertain significance (Jul 21, 2022)	criteria provided, single submitter
Select item 201192757.	NM_006302.3(MOGS):c.776+20G>A GRCh37: Chr2:74690297 GRCh38: Chr2:74463170	MOGS		MOGS-congenital disorder of glycosylation	Likely benign (Jun 30, 2022)	criteria provided, single submitter
Select item 200990258.	NM_006302.3(MOGS):c.580-16C>G GRCh37: Chr2:74690529 GRCh38: Chr2:74463402	MOGS		MOGS-congenital disorder of glycosylation	Likely benign (Jun 23, 2022)	criteria provided, single submitter
Select item 200587459.	NM_006302.3(MOGS):c.11G>A (p.Gly4Asp) GRCh37: Chr2:74692364 GRCh38: Chr2:74465237	MOGS	G4D	MOGS-congenital disorder of glycosylation	Uncertain significance (Jun 13, 2022)	criteria provided, single submitter
Select item 200534160.	NM_006302.3(MOGS):c.1855G>A (p.Gly619Ser) GRCh37: Chr2:74689061 GRCh38: Chr2:74461934	MOGS	G513S, G619S	MOGS-congenital disorder of glycosylation	Uncertain significance (Jun 13, 2022)	criteria provided, single submitter
Select item 199076561.	NM_006302.3(MOGS):c.1402C>T (p.Arg468Trp) GRCh37: Chr2:74689514 GRCh38: Chr2:74462387	MOGS	R362W, R468W	MOGS-congenital disorder of glycosylation	Uncertain significance (Jul 12, 2022)	criteria provided, single submitter
Select item 198777162.	NM_006302.3(MOGS):c.2469C>T (p.His823=) GRCh37: Chr2:74688447 GRCh38: Chr2:74461320	MOGS		MOGS-congenital disorder of glycosylation	Likely benign (Sep 26, 2022)	criteria provided, single submitter
Select item 198571663.	NM_006302.3(MOGS):c.478C>T (p.His160Tyr) GRCh37: Chr2:74691724 GRCh38: Chr2:74464597	MOGS	H160Y, H54Y	MOGS-congenital disorder of glycosylation	Uncertain significance (Aug 20, 2022)	criteria provided, single submitter
Select item 198408364.	NM_006302.3(MOGS):c.1621C>T (p.Leu541=) GRCh37: Chr2:74689295 GRCh38: Chr2:74462168	MOGS		MOGS-congenital disorder of glycosylation	Likely benign (Jul 11, 2022)	criteria provided, single submitter
Select item 198301565.	NM_006302.3(MOGS):c.1687C>T (p.Arg563Trp) GRCh37: Chr2:74689229 GRCh38: Chr2:74462102	MOGS	R457W, R563W	MOGS-congenital disorder of glycosylation	Uncertain significance (Oct 13, 2022)	criteria provided, single submitter
Select item 198252166.	NM_006302.3(MOGS):c.777-18dup GRCh37: Chr2:74690156-74690157 GRCh38: Chr2:74463029-74463030	MOGS		MOGS-congenital disorder of glycosylation	Likely benign (Aug 29, 2022)	criteria provided, single submitter
Select item 197985667.	NM_006302.3(MOGS):c.2122C>T (p.Arg708Cys) GRCh37: Chr2:74688794 GRCh38: Chr2:74461667	MOGS	R708C, R602C	MOGS-congenital disorder of glycosylation	Uncertain significance (Sep 17, 2022)	criteria provided, single submitter
Select item 197978068.	NM_006302.3(MOGS):c.2021G>C (p.Arg674Pro) GRCh37: Chr2:74688895 GRCh38: Chr2:74461768	MOGS	R674P, R568P	MOGS-congenital disorder of glycosylation	Uncertain significance (Mar 25, 2022)	criteria provided, single submitter
Select item 197966469.	NM_006302.3(MOGS):c.41A>T (p.Glu14Val) GRCh37: Chr2:74692334 GRCh38: Chr2:74465207	MOGS	E14V	Inborn genetic diseases, MOGS-congenital disorder of glycosylation	Uncertain significance (Jan 18, 2023)	criteria provided, multiple submitters, no conflicts
Select item 197699370.	NM_006302.3(MOGS):c.1684T>C (p.Trp562Arg) GRCh37: Chr2:74689232 GRCh38: Chr2:74462105	MOGS	W562R, W456R	MOGS-congenital disorder of glycosylation	Uncertain significance (Jan 11, 2022)	criteria provided, single submitter
Select item 197617371.	NM_006302.3(MOGS):c.884A>G (p.Glu295Gly) GRCh37: Chr2:74690032 GRCh38: Chr2:74462905	MOGS	E295G, E189G	MOGS-congenital disorder of glycosylation	Uncertain significance (Jan 26, 2022)	criteria provided, single submitter
Select item 197391772.	NM_006302.3(MOGS):c.1918C>T (p.Leu640=) GRCh37: Chr2:74688998 GRCh38: Chr2:74461871	MOGS		MOGS-congenital disorder of glycosylation	Likely benign (May 13, 2022)	criteria provided, single submitter
Select item 197068973.	NM_006302.3(MOGS):c.1043C>T (p.Ala348Val) GRCh37: Chr2:74689873 GRCh38: Chr2:74462746	MOGS	A348V, A242V	MOGS-congenital disorder of glycosylation	Uncertain significance (Mar 5, 2022)	criteria provided, single submitter
Select item 197022574.	NM_006302.3(MOGS):c.2228C>G (p.Ser743Ter) GRCh37: Chr2:74688688 GRCh38: Chr2:74461561	MOGS	S743, S637	MOGS-congenital disorder of glycosylation	Uncertain significance (Jun 14, 2022)	criteria provided, single submitter
Select item 197003775.	NM_006302.3(MOGS):c.1337G>A (p.Arg446Gln) GRCh37: Chr2:74689579 GRCh38: Chr2:74462452	MOGS	R446Q, R340Q	MOGS-congenital disorder of glycosylation	Uncertain significance (Mar 27, 2022)	criteria provided, single submitter
Select item 196876876.	NM_006302.3(MOGS):c.1374G>A (p.Val458=) GRCh37: Chr2:74689542 GRCh38: Chr2:74462415	MOGS		MOGS-congenital disorder of glycosylation	Likely benign (Aug 15, 2022)	criteria provided, single submitter
Select item 196379377.	NM_006302.3(MOGS):c.1416C>G (p.Gly472=) GRCh37: Chr2:74689500 GRCh38: Chr2:74462373	MOGS		MOGS-congenital disorder of glycosylation	Likely benign (Jun 10, 2022)	criteria provided, single submitter
Select item 196007078.	NM_006302.3(MOGS):c.1276C>T (p.Pro426Ser) GRCh37: Chr2:74689640 GRCh38: Chr2:74462513	MOGS	P426S, P320S	MOGS-congenital disorder of glycosylation	Uncertain significance (Mar 14, 2022)	criteria provided, single submitter
Select item 195963579.	NM_006302.3(MOGS):c.839G>C (p.Arg280Pro) GRCh37: Chr2:74690077 GRCh38: Chr2:74462950	MOGS	R280P, R174P	MOGS-congenital disorder of glycosylation	Uncertain significance (Aug 13, 2022)	criteria provided, single submitter
Select item 195355380.	NM_006302.3(MOGS):c.950G>A (p.Gly317Glu) GRCh37: Chr2:74689966 GRCh38: Chr2:74462839	MOGS	G317E, G211E	MOGS-congenital disorder of glycosylation	Uncertain significance (Apr 12, 2022)	criteria provided, single submitter
Select item 195200581.	NM_006302.3(MOGS):c.1383G>A (p.Arg461=) GRCh37: Chr2:74689533 GRCh38: Chr2:74462406	MOGS		MOGS-congenital disorder of glycosylation	Likely benign (Jan 27, 2022)	criteria provided, single submitter
Select item 194637282.	NM_006302.3(MOGS):c.97C>A (p.Arg33=) GRCh37: Chr2:74692278 GRCh38: Chr2:74465151	MOGS		MOGS-congenital disorder of glycosylation	Likely benign (Jul 29, 2022)	criteria provided, single submitter
Select item 194476083.	NM_006302.3(MOGS):c.1480G>A (p.Ala494Thr) GRCh37: Chr2:74689436 GRCh38: Chr2:74462309	MOGS	A388T, A494T	MOGS-congenital disorder of glycosylation	Uncertain significance (Aug 22, 2022)	criteria provided, single submitter
Select item 194329784.	NM_006302.3(MOGS):c.1513C>T (p.Gln505Ter) GRCh37: Chr2:74689403 GRCh38: Chr2:74462276	MOGS	Q399, Q505	MOGS-congenital disorder of glycosylation	Pathogenic (Mar 16, 2022)	criteria provided, single submitter
Select item 194268185.	NM_006302.3(MOGS):c.142G>A (p.Val48Ile) GRCh37: Chr2:74692233 GRCh38: Chr2:74465106	MOGS	V48I	MOGS-congenital disorder of glycosylation	Uncertain significance (Mar 10, 2022)	criteria provided, single submitter
Select item 194250686.	NM_006302.3(MOGS):c.7C>G (p.Arg3Gly) GRCh37: Chr2:74692368 GRCh38: Chr2:74465241	MOGS	R3G	MOGS-congenital disorder of glycosylation	Uncertain significance (Mar 9, 2022)	criteria provided, single submitter
Select item 194217587.	NM_006302.3(MOGS):c.1837C>T (p.Arg613Trp) GRCh37: Chr2:74689079 GRCh38: Chr2:74461952	MOGS	R507W, R613W	MOGS-congenital disorder of glycosylation	Uncertain significance (Mar 23, 2022)	criteria provided, single submitter
Select item 193923688.	NM_006302.3(MOGS):c.831A>G (p.Val277=) GRCh37: Chr2:74690085 GRCh38: Chr2:74462958	MOGS		MOGS-congenital disorder of glycosylation	Likely benign (Feb 22, 2022)	criteria provided, single submitter
Select item 193898389.	NM_006302.3(MOGS):c.755A>T (p.Asp252Val) GRCh37: Chr2:74690338 GRCh38: Chr2:74463211	MOGS	D252V, D146V	MOGS-congenital disorder of glycosylation	Uncertain significance (May 22, 2022)	criteria provided, single submitter
Select item 193870390.	NM_006302.3(MOGS):c.609C>A (p.Val203=) GRCh37: Chr2:74690484 GRCh38: Chr2:74463357	MOGS		MOGS-congenital disorder of glycosylation	Likely benign (Mar 31, 2022)	criteria provided, single submitter
Select item 193190191.	NM_006302.3(MOGS):c.1698C>A (p.Asp566Glu) GRCh37: Chr2:74689218 GRCh38: Chr2:74462091	MOGS	D460E, D566E	MOGS-congenital disorder of glycosylation	Likely benign (Aug 9, 2022)	criteria provided, single submitter
Select item 193143392.	NM_006302.3(MOGS):c.352+18C>T GRCh37: Chr2:74692005 GRCh38: Chr2:74464878	MOGS		MOGS-congenital disorder of glycosylation	Uncertain significance (Jan 31, 2022)	criteria provided, single submitter
Select item 192947593.	NM_006302.3(MOGS):c.36G>A (p.Pro12=) GRCh37: Chr2:74692339 GRCh38: Chr2:74465212	MOGS		MOGS-congenital disorder of glycosylation	Likely benign (Dec 28, 2021)	criteria provided, single submitter
Select item 192696394.	NM_006302.3(MOGS):c.1782C>T (p.Thr594=) GRCh37: Chr2:74689134 GRCh38: Chr2:74462007	MOGS		MOGS-congenital disorder of glycosylation	Likely benign (Oct 8, 2022)	criteria provided, single submitter
Select item 192310395.	NM_006302.3(MOGS):c.906A>G (p.Gly302=) GRCh37: Chr2:74690010 GRCh38: Chr2:74462883	MOGS		MOGS-congenital disorder of glycosylation	Likely benign (Mar 27, 2022)	criteria provided, single submitter
Select item 192185296.	NM_006302.3(MOGS):c.2332G>A (p.Ala778Thr) GRCh37: Chr2:74688584 GRCh38: Chr2:74461457	MOGS	A672T, A778T	MOGS-congenital disorder of glycosylation	Uncertain significance (Jul 26, 2022)	criteria provided, single submitter
Select item 192155297.	NM_006302.3(MOGS):c.400A>T (p.Arg134Trp) GRCh37: Chr2:74691802 GRCh38: Chr2:74464675	MOGS	R134W, R28W	MOGS-congenital disorder of glycosylation	Uncertain significance (Aug 12, 2022)	criteria provided, single submitter
Select item 192117498.	NM_006302.3(MOGS):c.1177G>A (p.Ala393Thr) GRCh37: Chr2:74689739 GRCh38: Chr2:74462612	MOGS	A287T, A393T	MOGS-congenital disorder of glycosylation	Uncertain significance (Apr 12, 2022)	criteria provided, single submitter
Select item 191734399.	NM_006302.3(MOGS):c.1767A>G (p.Ser589=) GRCh37: Chr2:74689149 GRCh38: Chr2:74462022	MOGS		MOGS-congenital disorder of glycosylation	Likely benign (Jul 6, 2022)	criteria provided, single submitter
Select item 1916222100.	NM_006302.3(MOGS):c.1619G>A (p.Arg540His) GRCh37: Chr2:74689297 GRCh38: Chr2:74462170	MOGS	R540H, R434H	MOGS-congenital disorder of glycosylation	Uncertain significance (Aug 17, 2022)	criteria provided, single submitter

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