"GeneDx"[submitter] AND "MAT2A"[gene] - ClinVar

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Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1316600	NC_000002.12:g.85538732C>T	LOC129934213, MAT2A +1 more	Single nucleotide variant (non-coding transcript variant)	not provided	GLikely benign
Select item 1317699	NC_000002.12:g.85538814G>T	MAT2A, PARTICL	Single nucleotide variant (non-coding transcript variant)	not provided	GLikely benign
Select item 679475	NM_005911.5(MAT2A):c.-132G>A	LOC129934215, MAT2A	Single nucleotide variant	not provided	GLikely benign
Select item 678527	NM_005911.6(MAT2A):c.-111G>A	LOC129934215, MAT2A	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 391886	NM_005911.6(MAT2A):c.-48C>T	LOC129934215, MAT2A	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 514047	NM_005911.6(MAT2A):c.-35C>T	MAT2A	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 392669	NM_005911.6(MAT2A):c.-35C>G	MAT2A	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 510016	NM_005911.6(MAT2A):c.-22A>G	MAT2A	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 509840	NM_005911.6(MAT2A):c.-18C>T	MAT2A	Single nucleotide variant (5 prime UTR variant)	not specified +1 more	GLikely benign
Select item 390941	NM_005911.6(MAT2A):c.-15C>T	MAT2A	Single nucleotide variant (5 prime UTR variant)	not specified	GBenign/Likely benign
Select item 513678	NM_005911.6(MAT2A):c.-7C>T	MAT2A	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 477584	NM_005911.6(MAT2A):c.54C>T (p.Phe18=)	MAT2A	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 674848	NM_005911.6(MAT2A):c.91+44C>T	MAT2A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 678724	NM_005911.6(MAT2A):c.92-237C>A	MAT2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1230288	NM_005911.6(MAT2A):c.92-63CATA[5]	MAT2A	Microsatellite (intron variant)	not provided	GBenign
Select item 477581	NM_005911.6(MAT2A):c.108A>G (p.Gln36=)	MAT2A	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 679091	NM_005911.6(MAT2A):c.169+47A>G	MAT2A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 674903	NM_005911.6(MAT2A):c.292+70G>A	MAT2A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1316409	NM_005911.6(MAT2A):c.293-79T>C	MAT2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1317578	NM_005911.6(MAT2A):c.293-47C>T	MAT2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 507373	NM_005911.6(MAT2A):c.293-15G>T	MAT2A	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 391336	NM_005911.6(MAT2A):c.318G>T (p.Val106=)	MAT2A	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 1238568	NM_005911.6(MAT2A):c.405+32T>C	MAT2A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 387337	NM_005911.6(MAT2A):c.406-19G>A	MAT2A	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 847328	NM_005911.6(MAT2A):c.406-3T>C	MAT2A	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GConflicting classifications of pathogenicity
Select item 477582	NM_005911.6(MAT2A):c.438T>C (p.Thr146=)	MAT2A	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 391729	NM_005911.6(MAT2A):c.477G>A (p.Lys159=)	MAT2A	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 477583	NM_005911.6(MAT2A):c.501A>G (p.Leu167=)	MAT2A	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GBenign/Likely benign
Select item 674698	NM_005911.6(MAT2A):c.550-32G>A	MAT2A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1316500	NM_005911.6(MAT2A):c.663C>A (p.Ala221=)	MAT2A	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 507567	NM_005911.6(MAT2A):c.663C>T (p.Ala221=)	MAT2A	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 507640	NM_005911.6(MAT2A):c.666A>G (p.Leu222=)	MAT2A	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 426974	NM_005911.6(MAT2A):c.674A>G (p.Lys225Arg)	MAT2A (K225R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 672424	NM_005911.6(MAT2A):c.699G>A (p.Ala233=)	MAT2A	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 381190	NM_005911.6(MAT2A):c.792C>G (p.Arg264=)	MAT2A	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GBenign
Select item 477587	NM_005911.6(MAT2A):c.813T>C (p.Tyr271=)	MAT2A	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 705846	NM_005911.6(MAT2A):c.816C>A (p.Gly272=)	MAT2A	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 390649	NM_005911.6(MAT2A):c.831T>C (p.His277=)	MAT2A	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 511973	NM_005911.6(MAT2A):c.840T>C (p.Gly280=)	MAT2A	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 508371	NM_005911.6(MAT2A):c.843C>T (p.Ala281=)	MAT2A	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 389582	NM_005911.6(MAT2A):c.951+7A>G	MAT2A	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 513354	NM_005911.6(MAT2A):c.951+11T>C	MAT2A	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 511308	NM_005911.6(MAT2A):c.951+13TA[2]	MAT2A	Microsatellite (intron variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 668230	NM_005911.6(MAT2A):c.951+16A>G	MAT2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 674849	NM_005911.6(MAT2A):c.952-49A>G	MAT2A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 507213	NM_005911.6(MAT2A):c.952-20C>T	MAT2A	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 390150	NM_005911.6(MAT2A):c.952-20C>G	MAT2A	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 506595	NM_005911.6(MAT2A):c.952-19G>A	MAT2A	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GBenign/Likely benign
Select item 510925	NM_005911.6(MAT2A):c.952-3dup	MAT2A	Duplication (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 511170	NM_005911.6(MAT2A):c.1059C>T (p.Phe353=)	MAT2A	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 386360	NM_005911.6(MAT2A):c.1110T>A (p.Ile370=)	MAT2A	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign

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Items: 51