"Ambry Genetics"[submitter] AND "MOGS"[gene] - ClinVar

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Items: 62

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 197276	NM_006302.3(MOGS):c.2434C>T (p.Arg812Cys)	MOGS (R812C +1 more)	Single nucleotide variant (missense variant)	MOGS-congenital disorder of glycosylation +2 more	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 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 534241	NM_006302.3(MOGS):c.2243C>A (p.Pro748His)	MOGS (P748H +1 more)	Single nucleotide variant (missense variant)	MOGS-congenital disorder of glycosylation +1 more	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 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 648514	NM_006302.3(MOGS):c.2158C>T (p.Arg720Cys)	MOGS (R614C +1 more)	Single nucleotide variant (missense variant)	MOGS-congenital disorder of glycosylation +1 more	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 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 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 659690	NM_006302.3(MOGS):c.2021G>A (p.Arg674Gln)	MOGS (R568Q +1 more)	Single nucleotide variant (missense variant)	MOGS-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 1045263	NM_006302.3(MOGS):c.1928T>G (p.Leu643Arg)	MOGS (L537R +1 more)	Single nucleotide variant (missense variant)	MOGS-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 626140	NM_006302.3(MOGS):c.1826G>A (p.Arg609His)	MOGS (R609H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1910300	NM_006302.3(MOGS):c.1759C>T (p.Arg587Trp)	MOGS (R481W +1 more)	Single nucleotide variant (missense variant)	MOGS-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 962264	NM_006302.3(MOGS):c.1723C>T (p.Pro575Ser)	MOGS (P469S +1 more)	Single nucleotide variant (missense variant)	MOGS-congenital disorder of glycosylation +2 more	GUncertain significance
Select item 863054	NM_006302.3(MOGS):c.1604G>A (p.Arg535Gln)	MOGS (R429Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	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 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 647768	NM_006302.3(MOGS):c.1528G>A (p.Ala510Thr)	MOGS (A404T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1368165	NM_006302.3(MOGS):c.1517G>A (p.Arg506Gln)	MOGS (R506Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1494312	NM_006302.3(MOGS):c.1466T>C (p.Ile489Thr)	MOGS (I489T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 652610	NM_006302.3(MOGS):c.1461G>C (p.Glu487Asp)	MOGS (E381D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1468523	NM_006302.3(MOGS):c.1453G>C (p.Gly485Arg)	MOGS (G379R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1411367	NM_006302.3(MOGS):c.1382G>A (p.Arg461Gln)	MOGS (R461Q +1 more)	Single nucleotide variant (missense variant)	MOGS-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 651030	NM_006302.3(MOGS):c.1322G>A (p.Arg441Gln)	MOGS (R441Q +1 more)	Single nucleotide variant (missense variant)	MOGS-congenital disorder of glycosylation +1 more	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 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 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 654265	NM_006302.3(MOGS):c.1130A>G (p.Gln377Arg)	MOGS (Q271R +1 more)	Single nucleotide variant (missense variant)	MOGS-congenital disorder of glycosylation +1 more	GConflicting classifications of pathogenicity
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 841241	NM_006302.3(MOGS):c.1112G>A (p.Arg371His)	MOGS (R265H +1 more)	Single nucleotide variant (missense variant)	MOGS-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 573840	NM_006302.3(MOGS):c.1072A>T (p.Thr358Ser)	MOGS (T358S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 657225	NM_006302.3(MOGS):c.1061G>A (p.Gly354Asp)	MOGS (G248D +1 more)	Single nucleotide variant (missense variant)	MOGS-congenital disorder of glycosylation +1 more	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 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 1368849	NM_006302.3(MOGS):c.880C>G (p.Pro294Ala)	MOGS (P294A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 858358	NM_006302.3(MOGS):c.874G>C (p.Ala292Pro)	MOGS (A186P +1 more)	Single nucleotide variant (missense variant)	MOGS-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 943238	NM_006302.3(MOGS):c.863G>A (p.Arg288Gln)	MOGS (R288Q +1 more)	Single nucleotide variant (missense variant)	MOGS-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 465844	NM_006302.3(MOGS):c.858G>C (p.Gln286His)	MOGS (Q286H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 933851	NM_006302.3(MOGS):c.782A>G (p.Asn261Ser)	MOGS (N155S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	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
Select item 970055	NM_006302.3(MOGS):c.722G>A (p.Arg241His)	MOGS (R135H +1 more)	Single nucleotide variant (missense variant)	MOGS-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 1038625	NM_006302.3(MOGS):c.721C>T (p.Arg241Cys)	MOGS (R135C +1 more)	Single nucleotide variant (missense variant)	MOGS-congenital disorder of glycosylation +1 more	GConflicting classifications of pathogenicity
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 2297197	NM_006302.3(MOGS):c.517G>A (p.Val173Ile)	MOGS (V67I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 95360	NM_006302.3(MOGS):c.499A>C (p.Arg167=)	MOGS	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 653283	NM_006302.3(MOGS):c.476A>T (p.Gln159Leu)	MOGS (Q159L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	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 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 465842	NM_006302.3(MOGS):c.436T>G (p.Tyr146Asp)	MOGS (Y146D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	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 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 967937	NM_006302.3(MOGS):c.418G>C (p.Gly140Arg)	MOGS (G34R +1 more)	Single nucleotide variant (missense variant)	MOGS-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 1512949	NM_006302.3(MOGS):c.410G>A (p.Cys137Tyr)	MOGS (C137Y +1 more)	Single nucleotide variant (missense variant)	MOGS-congenital disorder of glycosylation +1 more	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 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 938893	NM_006302.3(MOGS):c.298C>T (p.Arg100Cys)	LOC129934128, MOGS (R100C)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 581783	NM_006302.3(MOGS):c.206G>A (p.Arg69Gln)	LOC129934128, MOGS (R69Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 534244	NM_006302.3(MOGS):c.103G>A (p.Gly35Ser)	LOC129934128, MOGS (G35S)	Single nucleotide variant (missense variant +1 more)	MOGS-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 966934	NM_006302.3(MOGS):c.98G>T (p.Arg33Leu)	LOC129934128, MOGS (R33L)	Single nucleotide variant (missense variant +1 more)	MOGS-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 1979664	NM_006302.3(MOGS):c.41A>T (p.Glu14Val)	MOGS (E14V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	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

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Items: 62