7045[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126862060, LOC126862061 +3282 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC125048449, LOC125048450 +3277 more	Copy number gain	See cases	GPathogenic
Select item 152063	GRCh38/hg38 14q21.1-22.3(chr14:39196172-56714461)x3	ABHD12B, ARF6 +394 more	Copy number gain	See cases	GLikely pathogenic
Select item 1230840	NC_000014.9:g.49620530T>C	MGAT2, RPL36AL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257494	NC_000014.9:g.49620639C>G	MGAT2	Single nucleotide variant	not provided	GBenign
Select item 880736	NM_002408.3(MGAT2):c.-495C>T	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 880738	NM_002408.3(MGAT2):c.-486C>G	LOC130055539, MGAT2	Single nucleotide variant	MGAT2-congenital disorder of glycosylation	GUncertain significance
Select item 313239	NM_002408.4(MGAT2):c.-455C>T	LOC130055539, MGAT2	Single nucleotide variant (5 prime UTR variant)	MGAT2-congenital disorder of glycosylation	GUncertain significance
Select item 313240	NM_002408.4(MGAT2):c.-446C>G	LOC130055539, MGAT2	Single nucleotide variant (5 prime UTR variant)	MGAT2-congenital disorder of glycosylation	GUncertain significance
Select item 313241	NM_002408.4(MGAT2):c.-443C>T	LOC130055539, MGAT2	Single nucleotide variant (5 prime UTR variant)	MGAT2-congenital disorder of glycosylation +2 more	GConflicting classifications of pathogenicity
Select item 313242	NM_002408.4(MGAT2):c.-429G>A	LOC130055539, MGAT2	Single nucleotide variant (5 prime UTR variant)	MGAT2-congenital disorder of glycosylation	GUncertain significance
Select item 313243	NM_002408.4(MGAT2):c.-425C>T	LOC130055539, MGAT2	Single nucleotide variant (5 prime UTR variant)	MGAT2-congenital disorder of glycosylation	GUncertain significance
Select item 313244	NM_002408.4(MGAT2):c.-360G>T	MGAT2	Single nucleotide variant (5 prime UTR variant)	MGAT2-congenital disorder of glycosylation	GUncertain significance
Select item 313245	NM_002408.4(MGAT2):c.-351G>T	DNAAF2, MGAT2	Single nucleotide variant (5 prime UTR variant)	Primary ciliary dyskinesia +3 more	GBenign/Likely benign
Select item 313246	NM_002408.4(MGAT2):c.-350C>G	MGAT2	Single nucleotide variant (5 prime UTR variant)	MGAT2-congenital disorder of glycosylation	GUncertain significance
Select item 313247	NM_002408.4(MGAT2):c.-338C>T	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 313248	NM_002408.4(MGAT2):c.-296C>T	MGAT2	Single nucleotide variant (5 prime UTR variant)	MGAT2-congenital disorder of glycosylation	GUncertain significance
Select item 313249	NM_002408.4(MGAT2):c.-234T>C	DNAAF2, MGAT2	Single nucleotide variant (5 prime UTR variant)	Primary ciliary dyskinesia +3 more	GBenign
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 313250	NM_002408.4(MGAT2):c.-161C>G	MGAT2	Single nucleotide variant (5 prime UTR variant)	MGAT2-congenital disorder of glycosylation	GUncertain significance
Select item 313251	NM_002408.4(MGAT2):c.-143G>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 313252	NM_002408.4(MGAT2):c.-121C>G	MGAT2	Single nucleotide variant (5 prime UTR 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 313253	NM_002408.4(MGAT2):c.-76GCCC[4]	MGAT2	Microsatellite (5 prime UTR variant)	Congenital disorder of glycosylation	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 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 515350	NM_002408.4(MGAT2):c.30G>A (p.Val10=)	MGAT2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
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 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 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 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 3031582	NM_002408.4(MGAT2):c.69C>T (p.Val23=)	MGAT2	Single nucleotide variant (synonymous variant)	MGAT2-related disorder	GLikely benign
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 617658	NM_002408.4(MGAT2):c.91C>T (p.Gln31Ter)	MGAT2 (Q31*)	Single nucleotide variant (nonsense)	MGAT2-congenital disorder of glycosylation	GPathogenic
Select item 218607	NM_002408.4(MGAT2):c.99G>T (p.Lys33Asn)	MGAT2 (K33N)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
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 386928	NM_002408.4(MGAT2):c.120G>T (p.Pro40=)	MGAT2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
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 2316159	NM_002408.4(MGAT2):c.173C>T (p.Pro58Leu)	MGAT2 (P58L)	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 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 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 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 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 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 2408152	NM_002408.4(MGAT2):c.319G>A (p.Val107Ile)	MGAT2 (V107I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 817419	NM_002408.4(MGAT2):c.346dup (p.Arg116fs)	MGAT2 (R116fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
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 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 2622264	NM_002408.4(MGAT2):c.359T>C (p.Leu120Pro)	MGAT2 (L120P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2292708	NM_002408.4(MGAT2):c.395G>C (p.Arg132Thr)	MGAT2 (R132T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 749956	NM_002408.4(MGAT2):c.402G>A (p.Leu134=)	MGAT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 3125902	NM_002408.4(MGAT2):c.407A>T (p.Asp136Val)	MGAT2 (D136V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3294602	NM_002408.4(MGAT2):c.424C>G (p.Gln142Glu)	MGAT2 (Q142E)	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 3294600	NM_002408.4(MGAT2):c.497G>T (p.Gly166Val)	MGAT2 (G166V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 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 3294601	NM_002408.4(MGAT2):c.515T>C (p.Val172Ala)	MGAT2 (V172A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 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 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 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 489288	NM_002408.4(MGAT2):c.745C>T (p.Arg249Ter)	MGAT2 (R249*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 617657	NM_002408.4(MGAT2):c.753dup (p.Ala252fs)	MGAT2 (A252fs)	Duplication (frameshift variant)	MGAT2-congenital disorder of glycosylation	GPathogenic
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 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 6990	NM_002408.4(MGAT2):c.785A>G (p.His262Arg)	MGAT2 (H262R)	Single nucleotide variant (missense variant)	MGAT2-congenital disorder of glycosylation	GPathogenic
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 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 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 2251642	NM_002408.4(MGAT2):c.809A>T (p.His270Leu)	MGAT2 (H270L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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

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