"Diagnostic Laboratory, Department of Genetics, University Medical Cen - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 95257	NM_005120.3(MED12):c.736-8A>C	MED12	Single nucleotide variant (intron variant)	FG syndrome +4 more	GBenign
Select item 138198	NM_005120.3(MED12):c.1248+15T>C	MED12	Single nucleotide variant (intron variant)	FG syndrome +3 more	GConflicting classifications of pathogenicity
Select item 11520	NM_005120.3(MED12):c.2881C>T (p.Arg961Trp)	MED12 (R961W)	Single nucleotide variant (missense variant)	FG syndrome 1 +6 more	GPathogenic/Likely pathogenic
Select item 11521	NM_005120.3(MED12):c.3020A>G (p.Asn1007Ser)	MED12 (N1007S)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 95248	NM_005120.3(MED12):c.3930A>C (p.Pro1310=)	MED12	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +5 more	GBenign
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 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 95256	NM_005120.3(MED12):c.6348_6359dup (p.His2116_Gln2119dup)	MED12	Duplication (inframe_insertion)	not specified +2 more	GBenign/Likely benign

ClinVar