ClinVar for MedGen (Select 342954) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3022833	NM_006302.3(MOGS):c.94_95insTCCG (p.Gly32fs)	LOC129934128, MOGS (G32fs)	Insertion (frameshift variant +1 more)	MOGS-congenital disorder of glycosylation	GPathogenic
Select item 3017996	NM_006302.3(MOGS):c.2016C>T (p.Leu672=)	MOGS	Single nucleotide variant (synonymous variant)	MOGS-congenital disorder of glycosylation	GLikely benign
Select item 3011954	NM_006302.3(MOGS):c.2099G>A (p.Arg700Gln)	MOGS (R700Q +1 more)	Single nucleotide variant (missense variant)	MOGS-congenital disorder of glycosylation	GUncertain significance
Select item 3010466	NM_006302.3(MOGS):c.1737C>T (p.Pro579=)	MOGS	Single nucleotide variant (synonymous variant)	MOGS-congenital disorder of glycosylation	GLikely benign
Select item 3009240	NM_006302.3(MOGS):c.2283G>A (p.Leu761=)	MOGS	Single nucleotide variant (synonymous variant)	MOGS-congenital disorder of glycosylation	GLikely benign
Select item 3007505	NM_006302.3(MOGS):c.2101C>T (p.Leu701=)	MOGS	Single nucleotide variant (synonymous variant)	MOGS-congenital disorder of glycosylation	GLikely benign
Select item 3006357	NM_006302.3(MOGS):c.1581C>T (p.Asp527=)	MOGS	Single nucleotide variant (synonymous variant)	MOGS-congenital disorder of glycosylation	GLikely benign
Select item 2997110	NM_006302.3(MOGS):c.1644C>G (p.Leu548=)	MOGS	Single nucleotide variant (synonymous variant)	MOGS-congenital disorder of glycosylation	GLikely benign
Select item 2985980	NM_006302.3(MOGS):c.477A>G (p.Gln159=)	MOGS	Single nucleotide variant (synonymous variant)	MOGS-congenital disorder of glycosylation	GLikely benign
Select item 2982038	NM_006302.3(MOGS):c.1421G>A (p.Trp474Ter)	MOGS (W474* +1 more)	Single nucleotide variant (nonsense)	MOGS-congenital disorder of glycosylation	GPathogenic
Select item 2981847	NM_006302.3(MOGS):c.816G>C (p.Leu272=)	MOGS	Single nucleotide variant (synonymous variant)	MOGS-congenital disorder of glycosylation +1 more	GLikely benign
Select item 2976812	NM_006302.3(MOGS):c.1222del (p.Gln408fs)	MOGS (Q302fs +1 more)	Deletion (frameshift variant)	MOGS-congenital disorder of glycosylation	GPathogenic
Select item 2969717	NM_006302.3(MOGS):c.151C>T (p.Leu51=)	LOC129934128, MOGS	Single nucleotide variant (synonymous variant +1 more)	MOGS-congenital disorder of glycosylation	GLikely benign
Select item 2968599	NM_006302.3(MOGS):c.1275C>T (p.Asp425=)	MOGS	Single nucleotide variant (synonymous variant)	MOGS-congenital disorder of glycosylation	GLikely benign
Select item 2962026	NM_006302.3(MOGS):c.2361C>T (p.Leu787=)	MOGS	Single nucleotide variant (synonymous variant)	MOGS-congenital disorder of glycosylation	GLikely benign
Select item 2960700	NM_006302.3(MOGS):c.1294G>T (p.Val432Leu)	MOGS (V432L +1 more)	Single nucleotide variant (missense variant)	MOGS-congenital disorder of glycosylation	GUncertain significance
Select item 2959427	NM_006302.3(MOGS):c.2160C>T (p.Arg720=)	MOGS	Single nucleotide variant (synonymous variant)	MOGS-congenital disorder of glycosylation	GLikely benign
Select item 2919485	NM_006302.3(MOGS):c.1026G>A (p.Gln342=)	MOGS	Single nucleotide variant (synonymous variant)	MOGS-congenital disorder of glycosylation	GLikely benign
Select item 2917958	NM_006302.3(MOGS):c.150C>G (p.Val50=)	LOC129934128, MOGS	Single nucleotide variant (synonymous variant +1 more)	MOGS-congenital disorder of glycosylation	GLikely benign
Select item 2913879	NM_006302.3(MOGS):c.54dup (p.Ala19fs)	MOGS (A19fs)	Duplication (frameshift variant +1 more)	MOGS-congenital disorder of glycosylation	GPathogenic
Select item 2912683	NM_006302.3(MOGS):c.1197T>C (p.Leu399=)	MOGS	Single nucleotide variant (synonymous variant)	MOGS-congenital disorder of glycosylation	GLikely benign
Select item 2910988	NM_006302.3(MOGS):c.273C>T (p.Ala91=)	LOC129934128, MOGS	Single nucleotide variant (5 prime UTR variant +1 more)	MOGS-congenital disorder of glycosylation	GLikely benign
Select item 2907046	NM_006302.3(MOGS):c.1681C>T (p.Arg561Cys)	MOGS (R455C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2903388	NM_006302.3(MOGS):c.2352C>T (p.His784=)	MOGS	Single nucleotide variant (synonymous variant)	MOGS-congenital disorder of glycosylation +1 more	GLikely benign
Select item 2901876	NM_006302.3(MOGS):c.1746G>T (p.Leu582=)	MOGS	Single nucleotide variant (synonymous variant)	MOGS-congenital disorder of glycosylation	GLikely benign
Select item 2897245	NM_006302.3(MOGS):c.1527C>T (p.His509=)	MOGS	Single nucleotide variant (synonymous variant)	MOGS-congenital disorder of glycosylation	GLikely benign
Select item 2889533	NM_006302.3(MOGS):c.516C>T (p.Phe172=)	MOGS	Single nucleotide variant (synonymous variant)	MOGS-congenital disorder of glycosylation	GLikely benign
Select item 2863800	NM_006302.3(MOGS):c.564G>C (p.Val188=)	MOGS	Single nucleotide variant (synonymous variant)	MOGS-congenital disorder of glycosylation	GLikely benign
Select item 2858860	NM_006302.3(MOGS):c.81C>G (p.Pro27=)	LOC129934128, MOGS	Single nucleotide variant (synonymous variant +1 more)	MOGS-congenital disorder of glycosylation	GLikely benign
Select item 2854427	NM_006302.3(MOGS):c.1980A>G (p.Lys660=)	MOGS	Single nucleotide variant (synonymous variant)	MOGS-congenital disorder of glycosylation	GLikely benign
Select item 2851375	NM_006302.3(MOGS):c.944G>A (p.Gly315Glu)	MOGS (G315E +1 more)	Single nucleotide variant (missense variant)	MOGS-congenital disorder of glycosylation	GUncertain significance
Select item 2846562	NM_006302.3(MOGS):c.874G>T (p.Ala292Ser)	MOGS (A292S +1 more)	Single nucleotide variant (missense variant)	MOGS-congenital disorder of glycosylation	GUncertain significance
Select item 2846552	NM_006302.3(MOGS):c.881del (p.Pro294fs)	MOGS (P294fs +1 more)	Deletion (frameshift variant)	MOGS-congenital disorder of glycosylation	GPathogenic
Select item 2845954	NM_006302.3(MOGS):c.354A>T (p.Gly118=)	MOGS	Single nucleotide variant (synonymous variant)	MOGS-congenital disorder of glycosylation	GLikely benign
Select item 2840619	NM_006302.3(MOGS):c.1611C>A (p.Ala537=)	MOGS	Single nucleotide variant (synonymous variant)	MOGS-congenital disorder of glycosylation	GLikely benign
Select item 2817337	NM_006302.3(MOGS):c.2217C>T (p.Gly739=)	MOGS	Single nucleotide variant (synonymous variant)	MOGS-congenital disorder of glycosylation	GLikely benign
Select item 2804102	NM_006302.3(MOGS):c.231G>C (p.Ala77=)	LOC129934128, MOGS	Single nucleotide variant (synonymous variant +1 more)	MOGS-congenital disorder of glycosylation	GLikely benign
Select item 2790643	NM_006302.3(MOGS):c.767A>C (p.Lys256Thr)	MOGS (K256T +1 more)	Single nucleotide variant (missense variant)	MOGS-congenital disorder of glycosylation	GUncertain significance
Select item 2785914	NM_006302.3(MOGS):c.1248G>A (p.Gly416=)	MOGS	Single nucleotide variant (synonymous variant)	MOGS-congenital disorder of glycosylation	GLikely benign
Select item 2755371	NM_006302.3(MOGS):c.1074C>G (p.Thr358=)	MOGS	Single nucleotide variant (synonymous variant)	MOGS-congenital disorder of glycosylation	GLikely benign
Select item 2745573	NM_006302.3(MOGS):c.1019G>A (p.Ser340Asn)	MOGS (S234N +1 more)	Single nucleotide variant (missense variant)	MOGS-congenital disorder of glycosylation	GUncertain significance
Select item 2743123	NM_006302.3(MOGS):c.573G>A (p.Glu191=)	MOGS	Single nucleotide variant (synonymous variant)	MOGS-congenital disorder of glycosylation	GLikely benign
Select item 2742149	NM_006302.3(MOGS):c.2205C>T (p.Ser735=)	MOGS	Single nucleotide variant (synonymous variant)	MOGS-congenital disorder of glycosylation	GLikely benign
Select item 2738198	NM_006302.3(MOGS):c.777-7C>G	MOGS	Single nucleotide variant (intron variant)	MOGS-congenital disorder of glycosylation	GLikely benign
Select item 2733129	NM_006302.3(MOGS):c.1623G>A (p.Leu541=)	MOGS	Single nucleotide variant (synonymous variant)	MOGS-congenital disorder of glycosylation	GLikely benign
Select item 2730528	NM_006302.3(MOGS):c.580-19G>T	MOGS	Single nucleotide variant (intron variant)	MOGS-congenital disorder of glycosylation	GLikely benign
Select item 2728304	NM_006302.3(MOGS):c.342C>G (p.Pro114=)	MOGS	Single nucleotide variant (synonymous variant)	MOGS-congenital disorder of glycosylation	GLikely benign
Select item 2723775	NM_006302.3(MOGS):c.1603C>A (p.Arg535=)	MOGS	Single nucleotide variant (synonymous variant)	MOGS-congenital disorder of glycosylation	GLikely benign
Select item 2718069	NM_006302.3(MOGS):c.1497T>A (p.Pro499=)	MOGS	Single nucleotide variant (synonymous variant)	MOGS-congenital disorder of glycosylation	GLikely benign
Select item 2708955	NM_006302.3(MOGS):c.1317C>T (p.Pro439=)	MOGS	Single nucleotide variant (synonymous variant)	MOGS-congenital disorder of glycosylation	GLikely benign
Select item 2703760	NM_006302.3(MOGS):c.551G>A (p.Trp184Ter)	MOGS (W78* +1 more)	Single nucleotide variant (nonsense)	MOGS-congenital disorder of glycosylation	GPathogenic
Select item 2700206	NM_006302.3(MOGS):c.1671A>T (p.Pro557=)	MOGS	Single nucleotide variant (synonymous variant)	MOGS-congenital disorder of glycosylation	GLikely benign
Select item 2697377	NM_006302.3(MOGS):c.630G>A (p.Val210=)	MOGS	Single nucleotide variant (synonymous variant)	MOGS-congenital disorder of glycosylation	GLikely benign
Select item 2694954	NM_006302.3(MOGS):c.2124C>T (p.Arg708=)	MOGS	Single nucleotide variant (synonymous variant)	MOGS-congenital disorder of glycosylation	GLikely benign
Select item 2690644	NM_006302.3(MOGS):c.455dup (p.Asp152fs)	MOGS (D152fs +1 more)	Duplication (frameshift variant)	MOGS-congenital disorder of glycosylation	GLikely pathogenic
Select item 2627430	NM_006302.3(MOGS):c.918G>A (p.Trp306Ter)	MOGS (W200* +1 more)	Single nucleotide variant (nonsense)	MOGS-congenital disorder of glycosylation	GUncertain significance
Select item 2627429	NM_006302.3(MOGS):c.82G>T (p.Gly28Trp)	LOC129934128, MOGS (G28W)	Single nucleotide variant (missense variant +1 more)	MOGS-congenital disorder of glycosylation	GUncertain significance
Select item 2506426	NM_006302.3(MOGS):c.2305T>C (p.Tyr769His)	MOGS (Y663H +1 more)	Single nucleotide variant (missense variant)	MOGS-congenital disorder of glycosylation	GLikely pathogenic
Select item 2500770	NM_006302.3(MOGS):c.1225G>A (p.Gly409Arg)	MOGS (G303R +1 more)	Single nucleotide variant (missense variant)	MOGS-congenital disorder of glycosylation	GLikely pathogenic
Select item 2433779	NM_006302.3(MOGS):c.170T>C (p.Met57Thr)	LOC129934128, MOGS (M57T)	Single nucleotide variant (missense variant +1 more)	MOGS-congenital disorder of glycosylation	GUncertain significance
Select item 2425561	NC_000002.11:g.(?_72359356)_(74779761_?)del	ACTG2, ALMS1 +42 more	Deletion	not provided	GPathogenic
Select item 2422083	NM_006302.3(MOGS):c.662T>C (p.Val221Ala)	MOGS (V115A +1 more)	Single nucleotide variant (missense variant)	MOGS-congenital disorder of glycosylation	GUncertain significance
Select item 2421397	NM_006302.3(MOGS):c.876C>T (p.Ala292=)	MOGS	Single nucleotide variant (synonymous variant)	MOGS-congenital disorder of glycosylation	GLikely benign
Select item 2420912	NM_006302.3(MOGS):c.1795G>C (p.Asp599His)	MOGS (D493H +1 more)	Single nucleotide variant (missense variant)	MOGS-congenital disorder of glycosylation	GUncertain significance
Select item 2419669	NM_006302.3(MOGS):c.2458C>T (p.Arg820Cys)	MOGS (R714C +1 more)	Single nucleotide variant (missense variant)	MOGS-congenital disorder of glycosylation	GUncertain significance
Select item 2414744	NM_006302.3(MOGS):c.14A>G (p.Glu5Gly)	MOGS (E5G)	Single nucleotide variant (missense variant +1 more)	MOGS-congenital disorder of glycosylation	GUncertain significance
Select item 2206674	NM_006302.3(MOGS):c.434C>T (p.Pro145Leu)	MOGS (P145L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2203107	NM_006302.3(MOGS):c.832_833del (p.Lys278fs)	MOGS (K172fs +1 more)	Deletion (frameshift variant)	MOGS-congenital disorder of glycosylation	GPathogenic
Select item 2200844	NM_006302.3(MOGS):c.2422C>T (p.Gln808Ter)	MOGS (Q702* +1 more)	Single nucleotide variant (nonsense)	MOGS-congenital disorder of glycosylation	GUncertain significance
Select item 2196285	NM_006302.3(MOGS):c.17G>A (p.Arg6Gln)	MOGS (R6Q)	Single nucleotide variant (missense variant +1 more)	MOGS-congenital disorder of glycosylation	GUncertain significance
Select item 2194178	NM_006302.3(MOGS):c.1603C>T (p.Arg535Ter)	MOGS (R429* +1 more)	Single nucleotide variant (nonsense)	MOGS-congenital disorder of glycosylation	GLikely pathogenic
Select item 2189870	NM_006302.3(MOGS):c.1219G>A (p.Gly407Arg)	MOGS (G301R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2184792	NM_006302.3(MOGS):c.216C>T (p.Val72=)	LOC129934128, MOGS	Single nucleotide variant (synonymous variant +1 more)	MOGS-congenital disorder of glycosylation	GLikely benign
Select item 2177778	NM_006302.3(MOGS):c.90G>A (p.Arg30=)	LOC129934128, MOGS	Single nucleotide variant (synonymous variant +1 more)	MOGS-congenital disorder of glycosylation	GLikely benign
Select item 2177637	NM_006302.3(MOGS):c.1250T>C (p.Val417Ala)	MOGS (V311A +1 more)	Single nucleotide variant (missense variant)	MOGS-congenital disorder of glycosylation	GUncertain significance
Select item 2177182	NM_006302.3(MOGS):c.2115C>T (p.Thr705=)	MOGS	Single nucleotide variant (synonymous variant)	MOGS-congenital disorder of glycosylation	GLikely benign
Select item 2174865	NM_006302.3(MOGS):c.2471G>A (p.Gly824Asp)	MOGS (G718D +1 more)	Single nucleotide variant (missense variant)	MOGS-congenital disorder of glycosylation	GUncertain significance
Select item 2167339	NM_006302.3(MOGS):c.595G>A (p.Ala199Thr)	MOGS (A93T +1 more)	Single nucleotide variant (missense variant)	MOGS-congenital disorder of glycosylation	GUncertain significance
Select item 2166894	NM_006302.3(MOGS):c.1298C>T (p.Pro433Leu)	MOGS (P327L +1 more)	Single nucleotide variant (missense variant)	MOGS-congenital disorder of glycosylation	GUncertain significance
Select item 2161830	NM_006302.3(MOGS):c.422del (p.Asp141fs)	MOGS (D35fs +1 more)	Deletion (frameshift variant)	MOGS-congenital disorder of glycosylation	GPathogenic
Select item 2159362	NM_006302.3(MOGS):c.208C>G (p.Arg70Gly)	LOC129934128, MOGS (R70G)	Single nucleotide variant (missense variant +1 more)	MOGS-congenital disorder of glycosylation	GUncertain significance
Select item 2157478	NM_006302.3(MOGS):c.1949G>A (p.Gly650Glu)	MOGS (G544E +1 more)	Single nucleotide variant (missense variant)	MOGS-congenital disorder of glycosylation	GUncertain significance
Select item 2155821	NM_006302.3(MOGS):c.2252G>A (p.Arg751Gln)	MOGS (R645Q +1 more)	Single nucleotide variant (missense variant)	MOGS-congenital disorder of glycosylation	GUncertain significance
Select item 2149790	NM_006302.3(MOGS):c.136C>T (p.Leu46=)	LOC129934128, MOGS	Single nucleotide variant (synonymous variant +1 more)	MOGS-congenital disorder of glycosylation	GLikely benign
Select item 2148586	NM_006302.3(MOGS):c.2321G>T (p.Gly774Val)	MOGS (G774V +1 more)	Single nucleotide variant (missense variant)	MOGS-congenital disorder of glycosylation	GUncertain significance
Select item 2135458	NM_006302.3(MOGS):c.704G>A (p.Ser235Asn)	MOGS (S129N +1 more)	Single nucleotide variant (missense variant)	MOGS-congenital disorder of glycosylation	GUncertain significance
Select item 2131342	NM_006302.3(MOGS):c.454G>C (p.Asp152His)	MOGS (D46H +1 more)	Single nucleotide variant (missense variant)	MOGS-congenital disorder of glycosylation	GUncertain significance
Select item 2128040	NM_006302.3(MOGS):c.602C>T (p.Pro201Leu)	MOGS (P201L +1 more)	Single nucleotide variant (missense variant)	MOGS-congenital disorder of glycosylation	GUncertain significance
Select item 2121654	NM_006302.3(MOGS):c.476A>C (p.Gln159Pro)	MOGS (Q159P +1 more)	Single nucleotide variant (missense variant)	MOGS-congenital disorder of glycosylation	GUncertain significance
Select item 2115668	NM_006302.3(MOGS):c.1857T>G (p.Gly619=)	MOGS	Single nucleotide variant (synonymous variant)	MOGS-congenital disorder of glycosylation	GLikely benign
Select item 2109428	NM_006302.3(MOGS):c.35C>T (p.Pro12Leu)	MOGS (P12L)	Single nucleotide variant (missense variant +1 more)	MOGS-congenital disorder of glycosylation	GUncertain significance
Select item 2100867	NM_006302.3(MOGS):c.352+9G>A	MOGS	Single nucleotide variant (intron variant)	MOGS-congenital disorder of glycosylation	GLikely benign
Select item 2099893	NM_006302.3(MOGS):c.1520C>T (p.Ala507Val)	MOGS (A401V +1 more)	Single nucleotide variant (missense variant)	MOGS-congenital disorder of glycosylation	GUncertain significance
Select item 2096379	NM_006302.3(MOGS):c.1142dup (p.Leu383fs)	MOGS (L277fs +1 more)	Duplication (frameshift variant)	MOGS-congenital disorder of glycosylation	GPathogenic
Select item 2090477	NM_006302.3(MOGS):c.568G>A (p.Val190Ile)	MOGS (V84I +1 more)	Single nucleotide variant (missense variant)	MOGS-congenital disorder of glycosylation	GUncertain significance
Select item 2088072	NM_006302.3(MOGS):c.712G>C (p.Gly238Arg)	MOGS (G238R +1 more)	Single nucleotide variant (missense variant)	MOGS-congenital disorder of glycosylation	GUncertain significance
Select item 2088024	NM_006302.3(MOGS):c.1196T>C (p.Leu399Pro)	MOGS (L399P +1 more)	Single nucleotide variant (missense variant)	MOGS-congenital disorder of glycosylation	GUncertain significance
Select item 2075980	NM_006302.3(MOGS):c.2097G>T (p.Leu699=)	MOGS	Single nucleotide variant (synonymous variant)	MOGS-congenital disorder of glycosylation	GLikely benign
Select item 2073369	NM_006302.3(MOGS):c.949G>A (p.Gly317Arg)	MOGS (G211R +1 more)	Single nucleotide variant (missense variant)	MOGS-congenital disorder of glycosylation	GUncertain significance
Select item 2071337	NM_006302.3(MOGS):c.2051A>C (p.Gln684Pro)	MOGS (Q684P +1 more)	Single nucleotide variant (missense variant)	MOGS-congenital disorder of glycosylation	GUncertain significance

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