ClinVar for MedGen (Select 309963) - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065289	NM_182925.5(FLT4):c.677-3C>T	FLT4	Single nucleotide variant (intron variant)	Hereditary lymphedema type I	GUncertain significance
Select item 2672120	NM_182925.5(FLT4):c.1519T>C (p.Trp507Arg)	FLT4 (W507R)	Single nucleotide variant (missense variant)	Hereditary lymphedema type I	GUncertain significance
Select item 2664279	NM_182925.5(FLT4):c.3109G>A (p.Asp1037Asn)	FLT4 (D1037N)	Single nucleotide variant (missense variant)	Hereditary lymphedema type I	GPathogenic
Select item 2664278	NM_182925.5(FLT4):c.2771T>A (p.Met924Lys)	FLT4 (M924K)	Single nucleotide variant (missense variant)	Hereditary lymphedema type I	GPathogenic
Select item 2664275	NM_182925.5(FLT4):c.2717_2734dup (p.Asn911_Leu912insHisLeuAsnValValAsn)	FLT4	Duplication (inframe_insertion)	Hereditary lymphedema type I	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 2445224	NM_182925.5(FLT4):c.3332G>A (p.Gly1111Glu)	FLT4 (G1111E)	Single nucleotide variant (missense variant)	Hereditary lymphedema type I	GPathogenic
Select item 2441699	NM_182925.5(FLT4):c.1104-2A>G	FLT4	Single nucleotide variant (splice acceptor variant)	Hereditary lymphedema type I	GUncertain significance
Select item 1712154	NM_182925.5(FLT4):c.3122G>A (p.Arg1041Gln)	FLT4 (R1041Q)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1700049	NM_004444.5(EPHB4):c.2011T>C (p.Phe671Leu)	EPHB4 (F671L)	Single nucleotide variant (missense variant)	Hereditary lymphedema type I	GPathogenic
Select item 1683756	NM_182925.5(FLT4):c.1093G>A (p.Glu365Lys)	FLT4 (E365K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1297745	NM_182925.5(FLT4):c.3023C>T (p.Pro1008Leu)	FLT4 (P1008L)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1030389	NM_182925.5(FLT4):c.3821A>T (p.Asp1274Val)	FLT4 (D1274V)	Single nucleotide variant (missense variant)	Hereditary lymphedema type I	GLikely pathogenic
Select item 994305	NM_004444.5(EPHB4):c.1423-6G>A	EPHB4	Single nucleotide variant (intron variant)	Hereditary lymphedema type I +1 more	GPathogenic/Likely pathogenic
Select item 932061	NM_182925.5(FLT4):c.3410C>T (p.Pro1137Leu)	FLT4 (P1137L)	Single nucleotide variant (missense variant)	Hereditary lymphedema type I +1 more	GLikely pathogenic
Select item 930555	NM_182925.5(FLT4):c.3610A>G (p.Thr1204Ala)	FLT4 (T1204A)	Single nucleotide variant (missense variant)	Hereditary lymphedema type I	GUncertain significance
Select item 930398	NM_182925.5(FLT4):c.3247C>T (p.Pro1083Ser)	FLT4 (P1083S)	Single nucleotide variant (missense variant)	Hereditary lymphedema type I	GUncertain significance
Select item 692043	NM_182925.5(FLT4):c.3121C>T (p.Arg1041Trp)	FLT4 (R1041W)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
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
Select item 16269	NM_182925.5(FLT4):c.2563G>A (p.Ala855Thr)	FLT4 (A855T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 16268	NM_182925.5(FLT4):c.3320TCT[1] (p.Phe1108del)	FLT4 (F1108del)	Microsatellite (inframe_deletion)	not provided	GPathogenic
Select item 16267	NM_182925.5(FLT4):c.3316G>A (p.Glu1106Lys)	FLT4 (E1106K)	Single nucleotide variant (missense variant)	Hereditary lymphedema type I	GPathogenic
Select item 16266	NM_182925.5(FLT4):c.3257T>C (p.Ile1086Thr)	FLT4 (I1086T)	Single nucleotide variant (missense variant)	FLT4-related condition	GUncertain significance
Select item 16265	NM_182925.5(FLT4):c.2632G>A (p.Val878Met)	FLT4 (V878M)	Single nucleotide variant (missense variant)	Hereditary lymphedema type I	GPathogenic
Select item 16263	NM_182925.5(FLT4):c.3104A>G (p.His1035Arg)	FLT4 (H1035R)	Single nucleotide variant (missense variant)	Hereditary lymphedema type I	GPathogenic
Select item 16262	NM_182925.5(FLT4):c.3341C>T (p.Pro1114Leu)	FLT4 (P1114L)	Single nucleotide variant (missense variant)	Hereditary lymphedema type I	GPathogenic
Select item 16261	NM_182925.5(FLT4):c.3131T>C (p.Leu1044Pro)	FLT4 (L1044P)	Single nucleotide variant (missense variant)	Hereditary lymphedema type I	GPathogenic
Select item 16260	NM_182925.5(FLT4):c.3122G>C (p.Arg1041Pro)	FLT4 (R1041P)	Single nucleotide variant (missense variant)	Hereditary lymphedema type I	GPathogenic
Select item 16259	NM_182925.5(FLT4):c.2569G>A (p.Gly857Arg)	FLT4 (G857R)	Single nucleotide variant (missense variant)	not provided	GPathogenic

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Items: 37