"Women's Health and Genetics/Laboratory Corporation of America, LabCor - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 477581	NM_005911.6(MAT2A):c.108A>G (p.Gln36=)	MAT2A	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GBenign/Likely benign
Select item 391336	NM_005911.6(MAT2A):c.318G>T (p.Val106=)	MAT2A	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GBenign/Likely benign
Select item 1091003	NM_005911.6(MAT2A):c.324A>T (p.Val108=)	MAT2A	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GBenign/Likely benign
Select item 2577066	NM_005911.6(MAT2A):c.405+20G>A	MAT2A	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 387337	NM_005911.6(MAT2A):c.406-19G>A	MAT2A	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GBenign
Select item 477582	NM_005911.6(MAT2A):c.438T>C (p.Thr146=)	MAT2A	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 477583	NM_005911.6(MAT2A):c.501A>G (p.Leu167=)	MAT2A	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 1574963	NM_005911.6(MAT2A):c.729C>T (p.His243=)	MAT2A	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GBenign/Likely benign
Select item 381190	NM_005911.6(MAT2A):c.792C>G (p.Arg264=)	MAT2A	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GBenign
Select item 477587	NM_005911.6(MAT2A):c.813T>C (p.Tyr271=)	MAT2A	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GBenign/Likely benign