MEL - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 375978	NM_002755.4(MAP2K1):c.167A>C (p.Gln56Pro)	MAP2K1 (Q56P)	Single nucleotide variant (missense variant)	Non-small cell lung carcinoma +1 more	GPathogenic
Select item 376173	NM_002755.4(MAP2K1):c.169A>G (p.Lys57Glu)	MAP2K1 (K57E)	Single nucleotide variant (missense variant)	Melorheostosis +1 more	GPathogenic/Likely pathogenic
Select item 223140	NM_002755.4(MAP2K1):c.171G>T (p.Lys57Asn)	MAP2K1 (K57N)	Single nucleotide variant (missense variant)	not provided	GPathogenic
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 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 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

ClinVar