"GeneDx"[submitter] AND "MOGS"[gene] - ClinVar

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Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 337104	NM_006302.3(MOGS):c.2353G>A (p.Gly785Ser)	MOGS (G785S +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
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 382421	NM_006302.3(MOGS):c.2336G>A (p.Arg779Gln)	MOGS (R779Q +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1803625	NM_006302.3(MOGS):c.2218C>T (p.Gln740Ter)	MOGS (Q634* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 281500	NM_006302.3(MOGS):c.2055T>C (p.Tyr685=)	MOGS	Single nucleotide variant (synonymous variant)	MOGS-congenital disorder of glycosylation +1 more	GConflicting classifications of pathogenicity
Select item 337105	NM_006302.3(MOGS):c.2032C>T (p.Arg678Trp)	MOGS (R678W +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 218681	NM_006302.3(MOGS):c.2017G>A (p.Val673Ile)	MOGS (V673I +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 514798	NM_006302.3(MOGS):c.1944G>A (p.Glu648=)	MOGS	Single nucleotide variant (synonymous variant)	MOGS-congenital disorder of glycosylation +1 more	GBenign/Likely benign
Select item 95358	NM_006302.3(MOGS):c.1838G>A (p.Arg613Gln)	MOGS (R613Q +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 379238	NM_006302.3(MOGS):c.1801C>T (p.Arg601Ter)	MOGS (R601* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
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 337108	NM_006302.3(MOGS):c.1587C>T (p.Asp529=)	MOGS	Single nucleotide variant (synonymous variant)	MOGS-congenital disorder of glycosylation +2 more	GBenign/Likely benign
Select item 465838	NM_006302.3(MOGS):c.1581C>A (p.Asp527Glu)	MOGS (D527E +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 534242	NM_006302.3(MOGS):c.1484G>A (p.Arg495Gln)	MOGS (R495Q +1 more)	Single nucleotide variant (missense variant)	MOGS-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 382459	NM_006302.3(MOGS):c.1245C>G (p.Ile415Met)	MOGS (I415M +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 506721	NM_006302.3(MOGS):c.894C>T (p.Leu298=)	MOGS	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 1071539	NM_006302.3(MOGS):c.882del (p.Glu295fs)	MOGS (E189fs +1 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 235622	NM_006302.3(MOGS):c.881C>T (p.Pro294Leu)	MOGS (P294L +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 95363	NM_006302.3(MOGS):c.877C>T (p.Pro293Ser)	MOGS (P293S +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 95362	NM_006302.3(MOGS):c.715G>A (p.Asp239Asn)	MOGS (D239N +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 421934	NM_006302.3(MOGS):c.580-21_580-20delinsG	MOGS	Indel (intron variant)	not specified	GLikely benign
Select item 1250453	NM_006302.3(MOGS):c.580-295dup	MOGS	Duplication (intron variant)	not provided	GBenign
Select item 1213544	NM_006302.3(MOGS):c.580-295_580-294dup	MOGS	Duplication (intron variant)	not provided	GLikely benign
Select item 1183900	NM_006302.3(MOGS):c.580-275del	MOGS	Deletion (intron variant)	not provided	GLikely benign
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 127098	NM_006302.3(MOGS):c.370C>T (p.Gln124Ter)	MOGS (Q124* +1 more)	Single nucleotide variant (nonsense)	MOGS-congenital disorder of glycosylation +1 more	GPathogenic
Select item 512311	NM_006302.3(MOGS):c.330C>G (p.Arg110=)	MOGS	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 465841	NM_006302.3(MOGS):c.311A>C (p.Tyr104Ser)	MOGS (Y104S)	Single nucleotide variant (5 prime UTR variant +1 more)	MOGS-congenital disorder of glycosylation +1 more	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 389407	NM_006302.3(MOGS):c.297C>T (p.Tyr99=)	LOC129934128, MOGS	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +2 more	GLikely benign
Select item 193336	NM_006302.3(MOGS):c.249C>G (p.Ala83=)	LOC129934128, MOGS	Single nucleotide variant (synonymous 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 provided +2 more	GBenign
Select item 337114	NM_006302.3(MOGS):c.85C>G (p.Arg29Gly)	LOC129934128, MOGS (R29G)	Single nucleotide variant (missense variant +1 more)	MOGS-congenital disorder of glycosylation +2 more	GBenign/Likely benign
Select item 384985	NM_006302.3(MOGS):c.12C>G (p.Gly4=)	MOGS	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 385664	NM_006302.3(MOGS):c.-44C>T	MOGS	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 507988	NM_006302.3(MOGS):c.-52G>C	MOGS	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 390410	NM_006302.3(MOGS):c.-77G>C	MOGS	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 1251856	NC_000002.12:g.74465520T>C	MOGS	Single nucleotide variant	not provided	GBenign
Select item 1227595	NC_000002.12:g.74465691_74465692dup	MOGS	Duplication	not provided	GBenign
Select item 1208617	NC_000002.12:g.74465692dup	MOGS	Duplication	not provided	GLikely benign
Select item 1190715	NC_000002.12:g.74465690_74465692dup	MOGS	Duplication	not provided	GLikely benign
Select item 1238319	NC_000002.12:g.74465692del	MOGS	Deletion	not provided	GBenign

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Items: 42