ClinVar for Gene (Select 4247) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3125903	NM_002408.4(MGAT2):c.517C>A (p.Leu173Met)	MGAT2 (L173M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3125902	NM_002408.4(MGAT2):c.407A>T (p.Asp136Val)	MGAT2 (D136V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3068209	NM_002408.4(MGAT2):c.1294G>C (p.Gly432Arg)	MGAT2 (G432R)	Single nucleotide variant (missense variant)	MGAT2-congenital disorder of glycosylation	GUncertain significance
Select item 3065025	NM_002408.4(MGAT2):c.1199_1202del (p.Asn400fs)	MGAT2 (N400fs)	Deletion (frameshift variant)	MGAT2-congenital disorder of glycosylation	GLikely pathogenic
Select item 3061920	NM_002408.4(MGAT2):c.1085G>A (p.Trp362Ter)	MGAT2 (W362*)	Single nucleotide variant (nonsense)	MGAT2-congenital disorder of glycosylation	GLikely pathogenic
Select item 3061865	NM_002408.4(MGAT2):c.1234_1237del (p.Thr412fs)	MGAT2 (T412fs)	Deletion (frameshift variant)	MGAT2-congenital disorder of glycosylation	GUncertain significance
Select item 3031582	NM_002408.4(MGAT2):c.69C>T (p.Val23=)	MGAT2	Single nucleotide variant (synonymous variant)	MGAT2-related condition	GLikely benign
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 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 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 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 2684714	GRCh37/hg19 14q11.2-23.1(chr14:20511673-61826023)x3	ABHD12B, ABHD4 +289 more	Copy number gain	not provided	GPathogenic
Select item 2637551	NM_002408.4(MGAT2):c.76A>G (p.Ser26Gly)	MGAT2 (S26G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622264	NM_002408.4(MGAT2):c.359T>C (p.Leu120Pro)	MGAT2 (L120P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2617115	NM_002408.4(MGAT2):c.1003A>G (p.Thr335Ala)	MGAT2 (T335A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2594098	NM_002408.4(MGAT2):c.1183A>G (p.Ile395Val)	MGAT2 (I395V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2553366	NM_002408.4(MGAT2):c.406G>A (p.Asp136Asn)	MGAT2 (D136N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2410855	NM_002408.4(MGAT2):c.437A>G (p.Asn146Ser)	MGAT2 (N146S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2408152	NM_002408.4(MGAT2):c.319G>A (p.Val107Ile)	MGAT2 (V107I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2361436	NM_002408.4(MGAT2):c.1202A>G (p.Asn401Ser)	MGAT2 (N401S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2325979	NM_002408.4(MGAT2):c.983A>G (p.Tyr328Cys)	MGAT2 (Y328C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2316159	NM_002408.4(MGAT2):c.173C>T (p.Pro58Leu)	MGAT2 (P58L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2292708	NM_002408.4(MGAT2):c.395G>C (p.Arg132Thr)	MGAT2 (R132T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2251642	NM_002408.4(MGAT2):c.809A>T (p.His270Leu)	MGAT2 (H270L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2241847	NM_002408.4(MGAT2):c.11G>A (p.Arg4His)	MGAT2 (R4H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2231327	NM_002408.4(MGAT2):c.173C>G (p.Pro58Arg)	MGAT2 (P58R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2229454	NM_002408.4(MGAT2):c.1027G>C (p.Asp343His)	MGAT2 (D343H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 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 2088122	NM_002408.4(MGAT2):c.1016_1020del (p.Cys339fs)	MGAT2 (C339fs)	Deletion (frameshift 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 +1 more	GBenign/Likely benign
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 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 1969918	NM_002408.4(MGAT2):c.1262C>T (p.Ala421Val)	MGAT2 (A421V)	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 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 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 1707441	GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2	ABCD4, ABHD12B +447 more	Copy number gain	See cases	GPathogenic
Select item 1698123	NM_002408.4(MGAT2):c.1182_1296delinsT (p.Gln394_Gly432delinsHis)	MGAT2	Indel (inframe_indel)	not provided	GUncertain significance
Select item 1676204	NC_000014.8:g.(21162263_36986276)_(36987308_50713602)del	DHRS1, NYNRIN +190 more	Deletion	Brain-lung-thyroid syndrome	GPathogenic
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 1527816	GRCh37/hg19 14q21.3(chr14:50073908-50127672)	DNAAF2, LRR1 +3 more	Copy number loss	not specified	GUncertain significance
Select item 1527812	GRCh37/hg19 14q21.2-21.3(chr14:45827312-50529931)	ARF6, DNAAF2 +14 more	Copy number gain	not specified	GUncertain significance
Select item 1412143	NC_000014.8:g.(?_50050385)_(50118115_?)dup	LRR1, MGAT2 +5 more	Duplication	Primary ciliary dyskinesia	GUncertain significance
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 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 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 1257494	NC_000014.9:g.49620639C>G	MGAT2	Single nucleotide variant	not provided	GBenign
Select item 1230840	NM_001001.5(RPL36AL):c.-37+32A>G	MGAT2, RPL36AL	Single nucleotide variant (intron variant)	not provided	GBenign
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 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 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 1033505	NM_002408.4(MGAT2):c.327G>T (p.Lys109Asn)	MGAT2 (K109N)	Single nucleotide variant (missense variant)	MGAT2-congenital disorder of glycosylation	GUncertain significance
Select item 1029594	NM_002408.4(MGAT2):c.509G>A (p.Cys170Tyr)	MGAT2 (C170Y)	Single nucleotide variant (missense variant)	MGAT2-congenital disorder of glycosylation	GUncertain significance
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 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 884093	NM_002408.4(MGAT2):c.302A>T (p.Asp101Val)	MGAT2 (D101V)	Single nucleotide variant (missense variant)	MGAT2-congenital disorder of glycosylation	GUncertain significance
Select item 884092	NM_002408.4(MGAT2):c.233C>T (p.Ala78Val)	MGAT2 (A78V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 884091	NM_002408.4(MGAT2):c.105G>A (p.Glu35=)	MGAT2	Single nucleotide variant (synonymous variant)	MGAT2-congenital disorder of glycosylation	GUncertain significance
Select item 884090	NM_002408.4(MGAT2):c.66C>T (p.Phe22=)	MGAT2	Single nucleotide variant (synonymous variant)	MGAT2-congenital disorder of glycosylation	GUncertain significance
Select item 883287	NM_002408.4(MGAT2):c.48G>C (p.Val16=)	MGAT2	Single nucleotide variant (synonymous variant)	MGAT2-congenital disorder of glycosylation	GUncertain significance
Select item 883286	NM_002408.4(MGAT2):c.15C>G (p.Ile5Met)	MGAT2 (I5M)	Single nucleotide variant (missense variant)	MGAT2-congenital disorder of glycosylation	GUncertain significance
Select item 883285	NM_002408.4(MGAT2):c.-110G>C	MGAT2	Single nucleotide variant (5 prime UTR variant)	MGAT2-congenital disorder of glycosylation	GUncertain significance
Select item 883284	NM_002408.4(MGAT2):c.-125C>G	MGAT2	Single nucleotide variant (5 prime UTR variant)	MGAT2-congenital disorder of glycosylation	GUncertain significance
Select item 882445	NM_002408.4(MGAT2):c.*821C>T	MGAT2	Single nucleotide variant (3 prime UTR variant)	MGAT2-congenital disorder of glycosylation	GUncertain significance
Select item 882444	NM_002408.4(MGAT2):c.*598T>C	MGAT2	Single nucleotide variant (3 prime UTR variant)	MGAT2-congenital disorder of glycosylation	GUncertain significance
Select item 882443	NM_002408.4(MGAT2):c.*372A>T	MGAT2	Single nucleotide variant (3 prime UTR variant)	MGAT2-congenital disorder of glycosylation	GUncertain significance
Select item 882198	NM_002408.4(MGAT2):c.*228A>G	MGAT2	Single nucleotide variant (3 prime UTR variant)	MGAT2-congenital disorder of glycosylation	GBenign
Select item 882197	NM_002408.4(MGAT2):c.*210C>A	MGAT2	Single nucleotide variant (3 prime UTR variant)	MGAT2-congenital disorder of glycosylation	GUncertain significance
Select item 882196	NM_002408.4(MGAT2):c.*189T>G	MGAT2	Single nucleotide variant (3 prime UTR variant)	MGAT2-congenital disorder of glycosylation	GUncertain significance
Select item 882195	NM_002408.4(MGAT2):c.*144C>A	MGAT2	Single nucleotide variant (3 prime UTR variant)	MGAT2-congenital disorder of glycosylation	GUncertain significance
Select item 882139	NM_002408.4(MGAT2):c.-190G>A	MGAT2	Single nucleotide variant (5 prime UTR variant)	MGAT2-congenital disorder of glycosylation	GUncertain significance
Select item 882138	NM_002408.4(MGAT2):c.-304C>A	MGAT2	Single nucleotide variant (5 prime UTR variant)	MGAT2-congenital disorder of glycosylation	GUncertain significance
Select item 880803	NM_002408.4(MGAT2):c.866T>A (p.Leu289His)	MGAT2 (L289H)	Single nucleotide variant (missense variant)	MGAT2-congenital disorder of glycosylation	GUncertain significance
Select item 880802	NM_002408.4(MGAT2):c.764T>C (p.Ile255Thr)	MGAT2 (I255T)	Single nucleotide variant (missense variant)	MGAT2-congenital disorder of glycosylation	GUncertain significance
Select item 880801	NM_002408.4(MGAT2):c.590C>A (p.Pro197His)	MGAT2 (P197H)	Single nucleotide variant (missense variant)	MGAT2-congenital disorder of glycosylation	GUncertain significance
Select item 880800	NM_002408.4(MGAT2):c.354G>A (p.Leu118=)	MGAT2	Single nucleotide variant (synonymous variant)	MGAT2-congenital disorder of glycosylation	GUncertain significance
Select item 880738	NM_002408.3(MGAT2):c.-486C>G	LOC130055539, MGAT2	Single nucleotide variant	MGAT2-congenital disorder of glycosylation	GUncertain significance
Select item 880737	NM_002408.3(MGAT2):c.-494C>T	LOC130055539, MGAT2	Single nucleotide variant	MGAT2-congenital disorder of glycosylation	GUncertain significance
Select item 880736	NM_002408.3(MGAT2):c.-495C>T	LOC130055539, MGAT2	Single nucleotide variant	MGAT2-congenital disorder of glycosylation	GUncertain significance
Select item 817419	NM_002408.4(MGAT2):c.346dup (p.Arg116fs)	MGAT2 (R116fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 749956	NM_002408.4(MGAT2):c.402G>A (p.Leu134=)	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 741667	NM_002408.4(MGAT2):c.1056C>T (p.Tyr352=)	MGAT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 736435	NM_002408.4(MGAT2):c.636T>C (p.Asn212=)	MGAT2	Single nucleotide variant (synonymous variant)	MGAT2-congenital disorder of glycosylation +1 more	GLikely benign
Select item 711584	NM_002408.4(MGAT2):c.591C>T (p.Pro197=)	MGAT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 702828	NM_002408.4(MGAT2):c.229C>T (p.Pro77Ser)	MGAT2 (P77S)	Single nucleotide variant (missense variant)	MGAT2-related condition +1 more	GConflicting classifications of pathogenicity
Select item 682115	NM_002408.4(MGAT2):c.1290G>A (p.Gly430=)	MGAT2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 680170	NM_002408.4(MGAT2):c.411A>T (p.Ser137=)	MGAT2	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
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 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 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 635036	NM_002408.4(MGAT2):c.797C>T (p.Pro266Leu)	MGAT2 (P266L)	Single nucleotide variant (missense variant)	MGAT2-congenital disorder of glycosylation	GUncertain significance
Select item 635035	NM_002408.4(MGAT2):c.511C>A (p.Pro171Thr)	MGAT2 (P171T)	Single nucleotide variant (missense variant)	MGAT2-congenital disorder of glycosylation	GUncertain significance
Select item 617661	NM_002408.4(MGAT2):c.799G>C (p.Asp267His)	MGAT2 (D267H)	Single nucleotide variant (missense variant)	MGAT2-congenital disorder of glycosylation	GPathogenic
Select item 617658	NM_002408.4(MGAT2):c.91C>T (p.Gln31Ter)	MGAT2 (Q31*)	Single nucleotide variant (nonsense)	MGAT2-congenital disorder of glycosylation	GPathogenic
Select item 617657	NM_002408.4(MGAT2):c.753dup (p.Ala252fs)	MGAT2 (A252fs)	Duplication (frameshift variant)	MGAT2-congenital disorder of glycosylation	GPathogenic
Select item 617656	NM_002408.4(MGAT2):c.1120C>T (p.His374Tyr)	MGAT2 (H374Y)	Single nucleotide variant (missense variant)	MGAT2-congenital disorder of glycosylation	GPathogenic
Select item 596219	NM_002408.4(MGAT2):c.1006_1009del (p.Asp336fs)	MGAT2 (D336fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 573512	NM_002408.4(MGAT2):c.232G>A (p.Ala78Thr)	MGAT2 (A78T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance

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