"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "MGAT2"[ - ClinVar

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Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 313254	NM_002408.4(MGAT2):c.63C>T (p.Gly21=)	MGAT2	Single nucleotide variant (synonymous variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 639157	NM_002408.4(MGAT2):c.68T>C (p.Val23Ala)	MGAT2 (V23A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 218607	NM_002408.4(MGAT2):c.99G>T (p.Lys33Asn)	MGAT2 (K33N)	Single nucleotide variant (missense variant)	MGAT2-congenital disorder of glycosylation +3 more	GConflicting classifications of pathogenicity
Select item 972224	NM_002408.4(MGAT2):c.146G>A (p.Gly49Asp)	MGAT2 (G49D)	Single nucleotide variant (missense variant)	MGAT2-congenital disorder of glycosylation	GUncertain significance
Select item 514205	NM_002408.4(MGAT2):c.153C>T (p.Gly51=)	MGAT2	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 2721722	NM_002408.4(MGAT2):c.163G>A (p.Gly55Arg)	MGAT2 (G55R)	Single nucleotide variant (missense variant)	MGAT2-congenital disorder of glycosylation	GUncertain significance
Select item 2987232	NM_002408.4(MGAT2):c.189C>T (p.Gly63=)	MGAT2	Single nucleotide variant (synonymous variant)	MGAT2-congenital disorder of glycosylation	GLikely benign
Select item 1017445	NM_002408.4(MGAT2):c.206A>G (p.Asn69Ser)	MGAT2 (N69S)	Single nucleotide variant (missense variant)	MGAT2-congenital disorder of glycosylation	GUncertain significance
Select item 2083378	NM_002408.4(MGAT2):c.216G>A (p.Ala72=)	MGAT2	Single nucleotide variant (synonymous variant)	MGAT2-congenital disorder of glycosylation	GBenign
Select item 702828	NM_002408.4(MGAT2):c.229C>T (p.Pro77Ser)	MGAT2 (P77S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 573512	NM_002408.4(MGAT2):c.232G>A (p.Ala78Thr)	MGAT2 (A78T)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 653562	NM_002408.4(MGAT2):c.250G>T (p.Ala84Ser)	MGAT2 (A84S)	Single nucleotide variant (missense variant)	MGAT2-congenital disorder of glycosylation	GUncertain significance
Select item 313255	NM_002408.4(MGAT2):c.261G>T (p.Leu87=)	DNAAF2, MGAT2	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia +4 more	GBenign/Likely benign
Select item 1390797	NM_002408.4(MGAT2):c.263C>G (p.Thr88Arg)	MGAT2 (T88R)	Single nucleotide variant (missense variant)	MGAT2-congenital disorder of glycosylation	GUncertain significance
Select item 1045858	NM_002408.4(MGAT2):c.275G>T (p.Arg92Leu)	MGAT2 (R92L)	Single nucleotide variant (missense variant)	MGAT2-congenital disorder of glycosylation	GUncertain significance
Select item 1353108	NM_002408.4(MGAT2):c.315G>T (p.Arg105Ser)	MGAT2 (R105S)	Single nucleotide variant (missense variant)	MGAT2-congenital disorder of glycosylation	GUncertain significance
Select item 2971678	NM_002408.4(MGAT2):c.349G>C (p.Glu117Gln)	MGAT2 (E117Q)	Single nucleotide variant (missense variant)	MGAT2-congenital disorder of glycosylation	GUncertain significance
Select item 313256	NM_002408.4(MGAT2):c.360G>A (p.Leu120=)	MGAT2	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 749956	NM_002408.4(MGAT2):c.402G>A (p.Leu134=)	MGAT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1936298	NM_002408.4(MGAT2):c.525G>A (p.Val175=)	MGAT2	Single nucleotide variant (synonymous variant)	MGAT2-congenital disorder of glycosylation	GLikely benign
Select item 1053082	NM_002408.4(MGAT2):c.544C>G (p.Gln182Glu)	MGAT2 (Q182E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 711584	NM_002408.4(MGAT2):c.591C>T (p.Pro197=)	MGAT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 385677	NM_002408.4(MGAT2):c.609T>C (p.Asn203=)	MGAT2	Single nucleotide variant (synonymous variant)	MGAT2-congenital disorder of glycosylation +1 more	GBenign/Likely benign
Select item 736435	NM_002408.4(MGAT2):c.636T>C (p.Asn212=)	MGAT2	Single nucleotide variant (synonymous variant)	MGAT2-congenital disorder of glycosylation	GLikely benign
Select item 530392	NM_002408.4(MGAT2):c.688A>C (p.Thr230Pro)	MGAT2 (T230P)	Single nucleotide variant (missense variant)	MGAT2-congenital disorder of glycosylation	GUncertain significance
Select item 30270	NM_002408.4(MGAT2):c.711G>C (p.Lys237Asn)	MGAT2 (K237N)	Single nucleotide variant (missense variant)	MGAT2-congenital disorder of glycosylation	GLikely pathogenic
Select item 94062	NM_002408.4(MGAT2):c.733G>C (p.Val245Leu)	MGAT2 (V245L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1378923	NM_002408.4(MGAT2):c.766C>G (p.Leu256Val)	MGAT2 (L256V)	Single nucleotide variant (missense variant)	MGAT2-congenital disorder of glycosylation	GUncertain significance
Select item 461189	NM_002408.4(MGAT2):c.768T>G (p.Leu256=)	MGAT2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2115408	NM_002408.4(MGAT2):c.781G>T (p.Asp261Tyr)	MGAT2 (D261Y)	Single nucleotide variant (missense variant)	MGAT2-congenital disorder of glycosylation	GUncertain significance
Select item 2169135	NM_002408.4(MGAT2):c.805T>C (p.Tyr269His)	MGAT2 (Y269H)	Single nucleotide variant (missense variant)	MGAT2-congenital disorder of glycosylation	GUncertain significance
Select item 1951756	NM_002408.4(MGAT2):c.814T>C (p.Phe272Leu)	MGAT2 (F272L)	Single nucleotide variant (missense variant)	MGAT2-congenital disorder of glycosylation	GUncertain significance
Select item 1977563	NM_002408.4(MGAT2):c.834G>A (p.Leu278=)	MGAT2	Single nucleotide variant (synonymous variant)	MGAT2-congenital disorder of glycosylation	GLikely benign
Select item 2770358	NM_002408.4(MGAT2):c.842A>C (p.Gln281Pro)	MGAT2 (Q281P)	Single nucleotide variant (missense variant)	MGAT2-congenital disorder of glycosylation	GUncertain significance
Select item 1943697	NM_002408.4(MGAT2):c.848G>A (p.Cys283Tyr)	MGAT2 (C283Y)	Single nucleotide variant (missense variant)	MGAT2-congenital disorder of glycosylation	GUncertain significance
Select item 648000	NM_002408.4(MGAT2):c.850C>T (p.Pro284Ser)	MGAT2 (P284S)	Single nucleotide variant (missense variant)	MGAT2-congenital disorder of glycosylation	GUncertain significance
Select item 568996	NM_002408.4(MGAT2):c.862G>A (p.Val288Ile)	MGAT2 (V288I)	Single nucleotide variant (missense variant)	MGAT2-congenital disorder of glycosylation	GUncertain significance
Select item 1155354	NM_002408.4(MGAT2):c.921A>G (p.Val307=)	MGAT2	Single nucleotide variant (synonymous variant)	MGAT2-congenital disorder of glycosylation	GLikely benign
Select item 2088122	NM_002408.4(MGAT2):c.1016_1020del (p.Cys339fs)	MGAT2 (C339fs)	Deletion (frameshift variant)	MGAT2-congenital disorder of glycosylation	GUncertain significance
Select item 389347	NM_002408.4(MGAT2):c.1023T>C (p.Tyr341=)	MGAT2	Single nucleotide variant (synonymous variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 741667	NM_002408.4(MGAT2):c.1056C>T (p.Tyr352=)	MGAT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 744001	NM_002408.4(MGAT2):c.1093C>T (p.Leu365=)	MGAT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1609078	NM_002408.4(MGAT2):c.1104A>G (p.Gln368=)	MGAT2	Single nucleotide variant (synonymous variant)	MGAT2-congenital disorder of glycosylation	GLikely benign
Select item 313258	NM_002408.4(MGAT2):c.1233A>T (p.Leu411=)	MGAT2	Single nucleotide variant (synonymous variant)	Congenital disorder of glycosylation +2 more	GConflicting classifications of pathogenicity
Select item 2059191	NM_002408.4(MGAT2):c.1234A>G (p.Thr412Ala)	MGAT2 (T412A)	Single nucleotide variant (missense variant)	MGAT2-congenital disorder of glycosylation	GUncertain significance
Select item 1969918	NM_002408.4(MGAT2):c.1262C>T (p.Ala421Val)	MGAT2 (A421V)	Single nucleotide variant (missense variant)	MGAT2-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 682115	NM_002408.4(MGAT2):c.1290G>A (p.Gly430=)	MGAT2	Single nucleotide variant (synonymous variant)	MGAT2-congenital disorder of glycosylation +2 more	GLikely benign
Select item 163091	NM_018139.3(DNAAF2):c.2303A>G (p.Asp768Gly)	DNAAF2, MGAT2 (D768G +2 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 10 +4 more	GBenign
Select item 3244077	NC_000014.8:g.(?_50087987)_(50122581_?)del	DNAAF2, MGAT2 +1 more	Deletion	not provided	GUncertain significance
Select item 1412143	NC_000014.8:g.(?_50050385)_(50118115_?)dup	RPL36AL, RPS29 +5 more	Duplication	Primary ciliary dyskinesia	GUncertain significance

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Items: 50