C3809006[trait identifier] AND "GeneReviews"[submitter] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 40781	NM_002755.4(MAP2K1):c.199G>A (p.Asp67Asn)	MAP2K1 (D67N)	Single nucleotide variant (missense variant)	Cardio-facio-cutaneous syndrome	GPathogenic FDA Recognized database
Select item 190378	NM_002755.4(MAP2K1):c.305A>G (p.Glu102Gly)	MAP2K1	Single nucleotide variant (missense variant)	RASopathy	GPathogenic
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

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