"GeneDx"[submitter] AND "MGAT2"[gene] - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 515350	NM_002408.4(MGAT2):c.30G>A (p.Val10=)	MGAT2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
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 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 386928	NM_002408.4(MGAT2):c.120G>T (p.Pro40=)	MGAT2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
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 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 817419	NM_002408.4(MGAT2):c.346dup (p.Arg116fs)	MGAT2 (R116fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
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 680170	NM_002408.4(MGAT2):c.411A>T (p.Ser137=)	MGAT2	Single nucleotide variant (synonymous variant)	not specified +1 more	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 94062	NM_002408.4(MGAT2):c.733G>C (p.Val245Leu)	MGAT2 (V245L)	Single nucleotide variant (missense variant)	MGAT2-congenital disorder of glycosylation +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 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 596219	NM_002408.4(MGAT2):c.1006_1009del (p.Asp336fs)	MGAT2 (D336fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 389347	NM_002408.4(MGAT2):c.1023T>C (p.Tyr341=)	MGAT2	Single nucleotide variant (synonymous variant)	MGAT2-congenital disorder of glycosylation +1 more	GConflicting classifications of pathogenicity
Select item 1698123	NM_002408.4(MGAT2):c.1182_1296delinsT (p.Gln394_Gly432delinsHis)	MGAT2	Indel (inframe_indel)	not provided	GUncertain significance
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 3340181	NM_002408.4(MGAT2):c.1237A>G (p.Ile413Val)	MGAT2 (I413V)	Single nucleotide variant (missense variant)	not provided	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 387938	NM_002408.4(MGAT2):c.*11T>C	MGAT2	Single nucleotide variant (3 prime UTR variant)	not specified	GLikely benign
Select item 313261	NM_002408.4(MGAT2):c.*366C>G	MGAT2	Single nucleotide variant (3 prime UTR variant)	Congenital disorder of glycosylation +2 more	GConflicting classifications of pathogenicity
Select item 313274	NM_018139.3(DNAAF2):c.*126T>A	DNAAF2, MGAT2	Single nucleotide variant (3 prime UTR variant)	not provided +3 more	GBenign
Select item 163091	NM_018139.3(DNAAF2):c.2303A>G (p.Asp768Gly)	DNAAF2, MGAT2 (D768G +2 more)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign

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Items: 28