"Institute of Human Genetics, University Hospital Muenster"[submitter] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1201510	NM_005120.3(MED12):c.3646G>A (p.Val1216Met)	MED12 (V1216M)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1708336	NM_005120.3(MED12):c.4516C>G (p.Gln1506Glu)	MED12 (Q1506E)	Single nucleotide variant (missense variant)	See cases	GLikely pathogenic