ClinVar for MedGen (Select 1651756) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1806219	NM_005429.5(VEGFC):c.781G>A (p.Asp261Asn)	VEGFC, HAFML (D261N)	Single nucleotide variant (missense variant)	Lymphatic malformation 4	GLikely benign
Select item 1330598	NM_005429.5(VEGFC):c.140A>T (p.Glu47Val)	VEGFC (E47V)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 994064	NM_005429.5(VEGFC):c.182G>A (p.Arg61Gln)	VEGFC (R61Q)	Single nucleotide variant (missense variant)	Lymphatic malformation 4	GBenign
Select item 993883	NM_005429.5(VEGFC):c.364A>G (p.Ile122Val)	VEGFC (I122V)	Single nucleotide variant (missense variant)	Lymphatic malformation 4 +1 more	GBenign
Select item 140737	NM_005429.5(VEGFC):c.628C>T (p.Arg210Ter)	VEGFC (R210*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 140736	NM_005429.5(VEGFC):c.571_572insTT (p.Pro191fs)	VEGFC (P191fs)	Insertion (frameshift variant)	Lymphatic malformation 4	GPathogenic

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