"Eurofins Ntd Llc (ga)"[submitter] AND "MAP2K1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 40738	NM_002755.4(MAP2K1):c.-2A>G	MAP2K1	Single nucleotide variant (5 prime UTR variant)	Noonan syndrome and Noonan-related syndrome +4 more	GBenign
Select item 180896	NM_002755.4(MAP2K1):c.277G>A (p.Val93Ile)	MAP2K1 (V93I)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 13351	NM_002755.4(MAP2K1):c.389A>G (p.Tyr130Cys)	MAP2K1 (Y130C)	Single nucleotide variant (missense variant)	Cardio-facio-cutaneous syndrome	GPathogenicFDA Recognized database
Select item 502026	NM_002755.4(MAP2K1):c.517-2A>T	MAP2K1	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 167260	NM_002755.4(MAP2K1):c.608A>G (p.Glu203Gly)	MAP2K1	Single nucleotide variant (missense variant)	RASopathy	GPathogenicFDA Recognized database
Select item 94082	NM_002755.4(MAP2K1):c.694-12TC[4]	MAP2K1	Microsatellite (intron variant)	RASopathy	GBenignFDA Recognized database

ClinVar