"Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Ch - 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)	not provided +3 more	GPathogenic OLikely oncogenic
Select item 223140	NM_002755.4(MAP2K1):c.171G>T (p.Lys57Asn)	MAP2K1 (K57N)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 1691383	NM_002755.4(MAP2K1):c.173_187del (p.Gln58_Glu62del)	MAP2K1	Deletion (inframe_deletion)	Parkes Weber syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1691385	NM_002755.4(MAP2K1):c.303_308del (p.Glu102_Ile103del)	MAP2K1	Deletion (inframe_deletion)	not provided	GPathogenic
Select item 2672096	NM_002755.4(MAP2K1):c.306_311del (p.Ile103_Lys104del)	MAP2K1	Deletion (inframe_deletion)	Vascular malformation +1 more	GPathogenic/Likely pathogenic
Select item 1691384	NM_002755.4(MAP2K1):c.435C>T (p.His145=)	MAP2K1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance

ClinVar