"Centre for Mendelian Genomics, University Medical Centre Ljubljana"[s - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 129589	NM_005120.3(MED12):c.934G>C (p.Val312Leu)	MED12 (V312L)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign/Likely benign
Select item 931587	NM_005120.3(MED12):c.1996A>G (p.Met666Val)	MED12 (M666V)	Single nucleotide variant (missense variant)	FG syndrome +5 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 931359	NM_005120.3(MED12):c.2982-20C>T	MED12	Single nucleotide variant (intron variant)	FG syndrome +1 more	GLikely benign
Select item 930328	NM_005120.3(MED12):c.3742G>C (p.Glu1248Gln)	MED12 (E1248Q)	Single nucleotide variant (missense variant)	X-linked intellectual disability with marfanoid habitus	GUncertain significance
Select item 374138	NM_005120.3(MED12):c.4342G>A (p.Gly1448Arg)	MED12 (G1448R)	Single nucleotide variant (missense variant)	Microcephaly +6 more	GLikely pathogenic

ClinVar