"ITMI"[submitter] AND "MED12"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 134638	NM_005120.3(MED12):c.568A>G (p.Ile190Val)	MED12 (I190V)	Single nucleotide variant (missense variant)	FG syndrome +2 more	GConflicting classifications of pathogenicity
Select item 134639	NM_005120.3(MED12):c.1313G>A (p.Arg438His)	LOC126863275, MED12 (R438H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 134636	NM_005120.3(MED12):c.4111C>T (p.Pro1371Ser)	MED12 (P1371S)	Single nucleotide variant (missense variant)	FG syndrome 1 +6 more	GLikely benign
Select item 134637	NM_005120.3(MED12):c.5593A>G (p.Met1865Val)	MED12 (M1865V)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GBenign/Likely benign
Select item 129593	NM_005120.3(MED12):c.5650G>A (p.Gly1884Ser)	MED12 (G1884S)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 95255	NM_005120.3(MED12):c.5711C>T (p.Ala1904Val)	MED12 (A1904V)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign

ClinVar