"Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, E - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 378127	NM_005120.3(MED12):c.384A>G (p.Gln128=)	MED12	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +7 more	GBenign/Likely benign
Select item 378128	NM_005120.3(MED12):c.1167G>A (p.Lys389=)	MED12	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 498668	NM_005120.3(MED12):c.2613G>A (p.Gln871=)	MED12	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1297574	NM_005120.3(MED12):c.3691+5G>A	MED12	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 129591	NM_005120.3(MED12):c.3797G>A (p.Arg1266His)	MED12 (R1266H)	Single nucleotide variant (missense variant)	MED12-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 134636	NM_005120.3(MED12):c.4111C>T (p.Pro1371Ser)	MED12 (P1371S)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +7 more	GLikely benign
Select item 197009	NM_005120.3(MED12):c.5400+6C>T	MED12	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1175048	NM_005120.3(MED12):c.5612G>A (p.Arg1871Gln)	MED12 (R1871Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 95255	NM_005120.3(MED12):c.5711C>T (p.Ala1904Val)	MED12 (A1904V)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +4 more	GBenign/Likely benign
Select item 1174803	NM_005120.3(MED12):c.5893C>T (p.Pro1965Ser)	MED12 (P1965S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1205963	NM_005120.3(MED12):c.6045-5T>C	MED12	Single nucleotide variant (intron variant)	MED12-related disorder	GLikely benign
Select item 95256	NM_005120.3(MED12):c.6348_6359dup (p.His2116_Gln2119dup)	MED12	Duplication (inframe_insertion)	Cardiovascular phenotype +2 more	GBenign/Likely benign