"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "MAP2K2"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1525536	NM_030662.4(MAP2K2):c.1141G>A (p.Gly381Ser)	MAP2K2 (G381S)	Single nucleotide variant (missense variant)	RASopathy +1 more	GUncertain significance
Select item 40839	NM_030662.4(MAP2K2):c.938G>A (p.Arg313Gln)	MAP2K2 (R313Q)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 503543	NM_030662.4(MAP2K2):c.860AAG[1] (p.Glu288del)	MAP2K2 (E288del)	Microsatellite (inframe_deletion)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 569590	NM_030662.4(MAP2K2):c.842G>A (p.Arg281Gln)	MAP2K2 (R281Q)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance FDA Recognized database
Select item 180906	NM_030662.4(MAP2K2):c.806C>T (p.Pro269Leu)	MAP2K2 (P269L)	Single nucleotide variant (missense variant)	RASopathy +1 more	GUncertain significance
Select item 543996	NM_030662.4(MAP2K2):c.453C>G (p.Asp151Glu)	MAP2K2 (D151E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 46232	NM_030662.4(MAP2K2):c.289A>T (p.Ile97Phe)	MAP2K2 (I97F)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance

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