ClinVar for Gene (Select 7841) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3377017	NM_006302.3(MOGS):c.2330A>C (p.Gln777Pro)	MOGS (Q671P +1 more)	Single nucleotide variant (missense variant)	MOGS-congenital disorder of glycosylation	GUncertain significance
Select item 3373584	NM_006302.3(MOGS):c.1675T>C (p.Ser559Pro)	MOGS (S453P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3366721	NM_006302.3(MOGS):c.667G>A (p.Ala223Thr)	MOGS (A117T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295535	NM_006302.3(MOGS):c.1574T>C (p.Val525Ala)	MOGS (V419A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3295534	NM_006302.3(MOGS):c.1297C>T (p.Pro433Ser)	MOGS (P327S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3295533	NM_006302.3(MOGS):c.1533C>G (p.Asn511Lys)	MOGS (N405K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3295532	NM_006302.3(MOGS):c.2030G>C (p.Gly677Ala)	MOGS (G571A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3295531	NM_006302.3(MOGS):c.880C>T (p.Pro294Ser)	MOGS (P294S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3295529	NM_006302.3(MOGS):c.2291G>A (p.Gly764Glu)	MOGS (G658E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3194840	NM_006302.3(MOGS):c.655C>T (p.Pro219Ser)	MOGS (P113S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3194600	NM_006302.3(MOGS):c.431G>T (p.Gly144Val)	MOGS (G144V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3194440	NM_006302.3(MOGS):c.307G>A (p.Val103Ile)	MOGS (V103I)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3194306	NM_006302.3(MOGS):c.2369A>G (p.Asn790Ser)	MOGS (N790S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3194184	NM_006302.3(MOGS):c.2077A>C (p.Ser693Arg)	MOGS (S587R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3062659	GRCh37/hg19 2p13.3-12(chr2:71076472-76368354)x1	ACTG2, ALMS1 +60 more	Copy number loss	not specified	GLikely pathogenic
Select item 3054824	NM_006302.3(MOGS):c.2313T>C (p.His771=)	MOGS	Single nucleotide variant (synonymous variant)	MOGS-related disorder	GLikely benign
Select item 3054660	NM_006302.3(MOGS):c.2394G>A (p.Gln798=)	MOGS	Single nucleotide variant (synonymous variant)	MOGS-related disorder	GLikely benign
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	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	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 2629792	NM_006302.3(MOGS):c.1127T>G (p.Phe376Cys)	MOGS (F270C +1 more)	Single nucleotide variant (missense variant)	MOGS-related disorder	GUncertain significance
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 2607450	NM_006302.3(MOGS):c.1143G>T (p.Lys381Asn)	MOGS (K275N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2603912	NM_006302.3(MOGS):c.1049C>T (p.Pro350Leu)	MOGS (P350L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2582979	NM_006302.3(MOGS):c.1336C>T (p.Arg446Ter)	MOGS (R340* +1 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2577770	NM_006302.3(MOGS):c.2338G>A (p.Ala780Thr)	MOGS (A674T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2558313	NM_006302.3(MOGS):c.2171G>A (p.Ser724Asn)	MOGS (S618N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2534288	NM_006302.3(MOGS):c.460C>G (p.Leu154Val)	MOGS (L48V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2529272	NM_006302.3(MOGS):c.380C>T (p.Thr127Ile)	MOGS (T21I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2509981	NM_006302.3(MOGS):c.26G>A (p.Arg9His)	MOGS (R9H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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 2498869	GRCh37/hg19 2p13.1-12(chr2:73716761-75347894)x1	CCDC142, DCTN1 +35 more	Copy number loss	not provided	GUncertain significance
Select item 2488710	NM_006302.3(MOGS):c.2228C>T (p.Ser743Leu)	MOGS (S637L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2427025	NC_000002.11:g.(?_69240632)_(74779761_?)dup	AAK1, ACTG2 +72 more	Duplication	not provided	GUncertain significance
Select item 2425561	NC_000002.11:g.(?_72359356)_(74779761_?)del	ACTG2, ALMS1 +42 more	Deletion	not provided	GPathogenic
Select item 2424629	NC_000002.11:g.(?_71004499)_(74779761_?)del	ACTG2, ALMS1 +55 more	Deletion	Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency	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 2354509	NM_006302.3(MOGS):c.2029G>C (p.Gly677Arg)	MOGS (G571R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2317446	NM_006302.3(MOGS):c.457G>A (p.Gly153Ser)	MOGS (G47S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2312301	NM_006302.3(MOGS):c.1124C>A (p.Thr375Asn)	MOGS (T269N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2311985	NM_006302.3(MOGS):c.742A>G (p.Thr248Ala)	MOGS (T142A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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