ClinVar for MedGen (Select 1714491) - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3255144	NM_182925.5(FLT4):c.1548G>A (p.Lys516=)	FLT4	Single nucleotide variant (synonymous variant)	Congenital heart defects, multiple types, 7	GUncertain significance
Select item 3235939	NM_182925.5(FLT4):c.1104-255C>T	FLT4	Single nucleotide variant (intron variant)	Congenital heart defects, multiple types, 7	GUncertain significance
Select item 3235936	NM_182925.5(FLT4):c.298_304del (p.Glu100fs)	FLT4 (E100fs)	Deletion (frameshift variant)	Congenital heart defects, multiple types, 7	GLikely pathogenic
Select item 3220905	NM_182925.5(FLT4):c.817-2A>G	FLT4	Single nucleotide variant (splice acceptor variant)	Congenital heart defects, multiple types, 7	GLikely pathogenic
Select item 3064021	NM_182925.5(FLT4):c.2765C>T (p.Pro922Leu)	FLT4 (P922L)	Single nucleotide variant (missense variant)	Congenital heart defects, multiple types, 7	GUncertain significance
Select item 3062295	NM_182925.5(FLT4):c.2922_2941del (p.Gly975fs)	FLT4 (G975fs)	Deletion (frameshift variant)	Congenital heart defects, multiple types, 7	GLikely pathogenic
Select item 2501818	NM_182925.5(FLT4):c.3179G>A (p.Arg1060Gln)	FLT4 (R1060Q)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1806294	NM_182925.5(FLT4):c.1755C>G (p.Tyr585Ter)	FLT4 (Y585*)	Single nucleotide variant (nonsense)	Congenital heart defects, multiple types, 7	GPathogenic
Select item 1699278	NM_182925.5(FLT4):c.3209G>T (p.Arg1070Leu)	FLT4 (R1070L)	Single nucleotide variant (missense variant)	Congenital heart defects, multiple types, 7	GUncertain significance
Select item 1285398	NM_182925.5(FLT4):c.952C>T (p.Arg318Ter)	FLT4 (R318*)	Single nucleotide variant (nonsense)	Congenital heart defects, multiple types, 7	GPathogenic/Likely pathogenic
Select item 1177461	NM_182925.5(FLT4):c.244C>T (p.Arg82Ter)	FLT4 (R82*)	Single nucleotide variant (nonsense)	Congenital heart defects, multiple types, 7	GPathogenic
Select item 932061	NM_182925.5(FLT4):c.3410C>T (p.Pro1137Leu)	FLT4 (P1137L)	Single nucleotide variant (missense variant)	not provided +4 more	GLikely pathogenic
Select item 812615	NM_182925.5(FLT4):c.1622dup (p.Gln542fs)	FLT4 (Q542fs)	Duplication (frameshift variant)	Congenital heart defects, multiple types, 7	GPathogenic
Select item 812614	NM_182925.5(FLT4):c.3574C>T (p.Gln1192Ter)	FLT4 (Q1192*)	Single nucleotide variant (nonsense)	Congenital heart defects, multiple types, 7	GPathogenic
Select item 812613	NM_182925.5(FLT4):c.3332-356_3894-1373del	FLT4	Deletion (splice acceptor variant +1 more)	Congenital heart defects, multiple types, 7	GPathogenic
Select item 812612	NM_182925.5(FLT4):c.89del (p.Pro30fs)	FLT4 (P30fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 812611	NM_182925.5(FLT4):c.1083C>G (p.Tyr361Ter)	FLT4	Single nucleotide variant (nonsense)	Congenital heart defects, multiple types, 7	GPathogenic
Select item 263049	NM_182925.5(FLT4):c.3220-29A>G	FLT4	Single nucleotide variant (intron variant)	Hereditary lymphedema type I +3 more	GBenign
Select item 263044	NM_182925.5(FLT4):c.3198C>T (p.Pro1066=)	FLT4	Single nucleotide variant (synonymous variant)	Hereditary lymphedema type I +3 more	GBenign
Select item 263040	NM_182925.5(FLT4):c.2761+44G>A	FLT4	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 263039	NM_182925.5(FLT4):c.2670C>G (p.His890Gln)	FLT4 (H890Q)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 263036	NM_182925.5(FLT4):c.2299+13G>C	FLT4, LOC126807632	Single nucleotide variant (intron variant)	Hereditary lymphedema type I +2 more	GBenign
Select item 263034	NM_182925.5(FLT4):c.2168-49G>A	FLT4	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 263020	NM_182925.5(FLT4):c.1104-42T>C	FLT4	Single nucleotide variant (intron variant)	Hereditary lymphedema type I +3 more	GBenign
Select item 263017	NM_182925.5(FLT4):c.1103+20A>C	FLT4	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 263016	NM_182925.5(FLT4):c.1103+18C>T	FLT4	Single nucleotide variant (intron variant)	not provided +3 more	GBenign

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Items: 26