Related gene-specific medical variations for Gene (Select 7841) - ClinVar

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Items: 48

	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 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 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 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 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 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 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 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 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 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=)	MOGS, LOC129934128	Single nucleotide variant (synonymous variant +1 more)	MOGS-congenital disorder of glycosylation	GLikely benign
Select item 2159362	NM_006302.3(MOGS):c.208C>G (p.Arg70Gly)	LOC129934128, MOGS (R70G)	Single nucleotide variant (intron variant +1 more)	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 2041773	NM_006302.3(MOGS):c.237T>A (p.Pro79=)	LOC129934128, MOGS	Single nucleotide variant (synonymous variant +1 more)	MOGS-congenital disorder of glycosylation	GUncertain significance
Select item 1946372	NM_006302.3(MOGS):c.97C>A (p.Arg33=)	LOC129934128, MOGS	Single nucleotide variant (synonymous variant +1 more)	MOGS-congenital disorder of glycosylation	GLikely benign
Select item 1942681	NM_006302.3(MOGS):c.142G>A (p.Val48Ile)	LOC129934128, MOGS (V48I)	Single nucleotide variant (missense variant +1 more)	MOGS-congenital disorder of glycosylation	GUncertain significance
Select item 1896150	NM_006302.3(MOGS):c.161C>T (p.Ala54Val)	LOC129934128, MOGS (A54V)	Single nucleotide variant (intron variant +1 more)	MOGS-congenital disorder of glycosylation	GUncertain significance
Select item 1661306	NM_006302.3(MOGS):c.210G>A (p.Arg70=)	LOC129934128, MOGS	Single nucleotide variant (synonymous variant +1 more)	MOGS-congenital disorder of glycosylation	GLikely benign
Select item 1540344	NM_006302.3(MOGS):c.132G>A (p.Val44=)	LOC129934128, MOGS	Single nucleotide variant (synonymous variant +1 more)	MOGS-congenital disorder of glycosylation +1 more	GLikely benign
Select item 1494472	NM_006302.3(MOGS):c.89G>C (p.Arg30Pro)	MOGS, LOC129934128 (R30P)	Single nucleotide variant (missense variant +1 more)	MOGS-congenital disorder of glycosylation	GUncertain significance
Select item 1479328	NM_006302.3(MOGS):c.110C>T (p.Pro37Leu)	LOC129934128, MOGS (P37L)	Single nucleotide variant (missense variant +1 more)	MOGS-congenital disorder of glycosylation	GUncertain significance
Select item 1400487	NM_006302.3(MOGS):c.287G>A (p.Trp96Ter)	LOC129934128, MOGS (W96*)	Single nucleotide variant (5 prime UTR variant +1 more)	MOGS-congenital disorder of glycosylation	GPathogenic
Select item 1399456	NM_006302.3(MOGS):c.83G>A (p.Gly28Glu)	LOC129934128, MOGS (G28E)	Single nucleotide variant (missense variant +1 more)	MOGS-congenital disorder of glycosylation	GUncertain significance
Select item 1394613	NM_006302.3(MOGS):c.122C>T (p.Ala41Val)	LOC129934128, MOGS (A41V)	Single nucleotide variant (missense variant +1 more)	MOGS-congenital disorder of glycosylation	GUncertain significance
Select item 1323285	NM_006302.3(MOGS):c.1385G>A (p.Trp462Ter)	MOGS (W356* +1 more)	Single nucleotide variant (nonsense)	MOGS-congenital disorder of glycosylation	GPathogenic
Select item 1156796	NM_006302.3(MOGS):c.123T>G (p.Ala41=)	LOC129934128, MOGS	Single nucleotide variant (synonymous variant +1 more)	MOGS-congenital disorder of glycosylation	GLikely benign
Select item 1155410	NM_006302.3(MOGS):c.294C>T (p.Thr98=)	LOC129934128, MOGS	Single nucleotide variant (5 prime UTR variant +1 more)	MOGS-congenital disorder of glycosylation	GLikely benign
Select item 1053253	NM_006302.3(MOGS):c.208C>T (p.Arg70Trp)	LOC129934128, MOGS (R70W)	Single nucleotide variant (missense variant +1 more)	MOGS-congenital disorder of glycosylation	GUncertain significance
Select item 1022209	NM_006302.3(MOGS):c.144C>A (p.Val48=)	LOC129934128, MOGS	Single nucleotide variant (synonymous variant +1 more)	MOGS-congenital disorder of glycosylation	GLikely benign
Select item 1006953	NM_006302.3(MOGS):c.173C>T (p.Ser58Leu)	LOC129934128, MOGS (S58L)	Single nucleotide variant (missense variant +1 more)	MOGS-congenital disorder of glycosylation	GUncertain significance
Select item 974901	NM_006302.3(MOGS):c.1422G>A (p.Trp474Ter)	MOGS (W368* +1 more)	Single nucleotide variant (nonsense)	MOGS-congenital disorder of glycosylation	GLikely pathogenic
Select item 966934	NM_006302.3(MOGS):c.98G>T (p.Arg33Leu)	LOC129934128, MOGS (R33L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 943076	NM_006302.3(MOGS):c.119C>T (p.Thr40Met)	LOC129934128, MOGS (T40M)	Single nucleotide variant (missense variant +1 more)	MOGS-congenital disorder of glycosylation	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)	MOGS-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 864617	NM_006302.3(MOGS):c.116G>A (p.Ser39Asn)	LOC129934128, MOGS (S39N)	Single nucleotide variant (missense variant +1 more)	MOGS-congenital disorder of glycosylation	GUncertain significance
Select item 853629	NM_006302.3(MOGS):c.169A>G (p.Met57Val)	LOC129934128, MOGS (M57V)	Single nucleotide variant (missense variant +1 more)	MOGS-congenital disorder of glycosylation	GUncertain significance
Select item 850734	NM_006302.3(MOGS):c.183G>T (p.Trp61Cys)	LOC129934128, MOGS (W61C)	Single nucleotide variant (missense variant +1 more)	MOGS-congenital disorder of glycosylation	GUncertain significance
Select item 836352	NM_006302.3(MOGS):c.262C>A (p.Pro88Thr)	LOC129934128, MOGS (P88T)	Single nucleotide variant (5 prime UTR variant +1 more)	MOGS-congenital disorder of glycosylation	GUncertain significance
Select item 743764	NM_006302.3(MOGS):c.219G>C (p.Thr73=)	LOC129934128, MOGS	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 646295	NM_006302.3(MOGS):c.290G>A (p.Gly97Glu)	LOC129934128, MOGS (G97E)	Single nucleotide variant (5 prime UTR variant +1 more)	MOGS-congenital disorder of glycosylation	GUncertain significance
Select item 639963	NM_006302.3(MOGS):c.94G>A (p.Gly32Ser)	LOC129934128, MOGS (G32S)	Single nucleotide variant (missense variant +1 more)	MOGS-congenital disorder of glycosylation	GUncertain significance
Select item 581783	NM_006302.3(MOGS):c.206G>A (p.Arg69Gln)	LOC129934128, MOGS (R69Q)	Single nucleotide variant (missense variant +1 more)	MOGS-congenital disorder of glycosylation +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)	Inborn genetic diseases +1 more	GUncertain significance
Select item 389407	NM_006302.3(MOGS):c.297C>T (p.Tyr99=)	LOC129934128, MOGS	Single nucleotide variant (5 prime UTR variant +1 more)	MOGS-congenital disorder of glycosylation +1 more	GLikely benign
Select item 337114	NM_006302.3(MOGS):c.85C>G (p.Arg29Gly)	LOC129934128, MOGS (R29G)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 337113	NM_006302.3(MOGS):c.255C>T (p.Ser85=)	LOC129934128, MOGS	Single nucleotide variant (intron variant +1 more)	MOGS-congenital disorder of glycosylation	GLikely benign
Select item 193336	NM_006302.3(MOGS):c.249C>G (p.Ala83=)	LOC129934128, MOGS	Single nucleotide variant (intron variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 95359	NM_006302.3(MOGS):c.184G>A (p.Val62Met)	LOC129934128, MOGS (V62M)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GBenign

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Links from Gene

Items: 48