"Laboratory of Medical Genetics, National & Kapodistrian University of - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1299563	NM_002755.4(MAP2K1):c.265C>A (p.Pro89Thr)	MAP2K1 (P89T)	Single nucleotide variant (missense variant)	Cardiofaciocutaneous syndrome 3	GLikely pathogenic
Select item 13351	NM_002755.4(MAP2K1):c.389A>G (p.Tyr130Cys)	MAP2K1 (Y130C)	Single nucleotide variant (missense variant)	Cardio-facio-cutaneous syndrome	GPathogenic FDA Recognized database