"Fulgent Genetics, Fulgent Genetics"[submitter] AND "MAP2K1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 40782	NM_002755.4(MAP2K1):c.237C>T (p.Gly79=)	MAP2K1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +7 more	GBenign/Likely benign
Select item 421851	NM_002755.4(MAP2K1):c.291+14_291+20delinsTCTCACCAATCACCA	MAP2K1	Indel (intron variant)	not provided +5 more	GLikely benign
Select item 280446	NM_002755.4(MAP2K1):c.323G>T (p.Arg108Leu)	MAP2K1 (R108L)	Single nucleotide variant (missense variant)	RASopathy	GPathogenic FDA Recognized database
Select item 228273	NM_002755.4(MAP2K1):c.364A>G (p.Asn122Asp)	MAP2K1 (N122D)	Single nucleotide variant (missense variant)	RASopathy	GPathogenic FDA Recognized database
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
Select item 1634362	NM_002755.4(MAP2K1):c.693+20T>C	MAP2K1	Single nucleotide variant (intron variant)	Cardiofaciocutaneous syndrome 3 +3 more	GLikely benign
Select item 582017	NM_002755.4(MAP2K1):c.961C>T (p.Pro321Ser)	MAP2K1 (P321S)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity

ClinVar