"ITMI"[submitter] AND "KDR"[gene] - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 134609	NM_002253.4(KDR):c.3808A>C (p.Lys1270Gln)	KDR (K1270Q)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 12317	NM_002253.4(KDR):c.3439C>T (p.Pro1147Ser)	KDR (P1147S)	Single nucleotide variant (missense variant)	Capillary infantile hemangioma	GPathogenic
Select item 134608	NM_002253.4(KDR):c.2674A>G (p.Ile892Val)	KDR (I892V)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 134607	NM_002253.4(KDR):c.2305G>A (p.Val769Ile)	KDR (V769I)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 134606	NM_002253.4(KDR):c.2066C>T (p.Thr689Met)	KDR (T689M)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 135551	NM_002253.4(KDR):c.1987+28C>T	KDR	Single nucleotide variant (intron variant)	not specified	Gnot provided
Select item 134605	NM_002253.4(KDR):c.1615G>A (p.Gly539Arg)	KDR (G539R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 134604	NM_002253.4(KDR):c.1493A>T (p.Glu498Val)	KDR (E498V)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 12318	NM_002253.4(KDR):c.1444T>C (p.Cys482Arg)	KDR (C482R)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely benign
Select item 134603	NM_002253.4(KDR):c.1416A>T (p.Gln472His)	KDR (Q472H)	Single nucleotide variant (missense variant)	KDR-related disorder	GBenign
Select item 134602	NM_002253.4(KDR):c.1384T>G (p.Leu462Val)	KDR (L462V)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 134620	NM_002253.4(KDR):c.1192G>A (p.Val398Ile)	KDR (V398I)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 134618	NM_002253.4(KDR):c.1151C>T (p.Thr384Met)	KDR (T384M)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 134619	NM_002253.4(KDR):c.1116G>C (p.Glu372Asp)	KDR (E372D)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 134617	NM_002253.4(KDR):c.1055C>T (p.Ala352Val)	KDR (A352V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 134615	NM_002253.4(KDR):c.895C>T (p.Arg299Trp)	KDR (R299W)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 134616	NM_002253.4(KDR):c.889G>A (p.Val297Ile)	KDR (V297I)	Single nucleotide variant (missense variant)	KDR-related disorder	GBenign
Select item 134614	NM_002253.4(KDR):c.794C>T (p.Ser265Leu)	KDR (S265L)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 134613	NM_002253.4(KDR):c.787C>T (p.Pro263Ser)	KDR (P263S)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 134612	NM_002253.4(KDR):c.724C>T (p.Leu242Phe)	KDR (L242F)	Single nucleotide variant (missense variant)	Premature ovarian failure	GLikely pathogenic
Select item 134611	NM_002253.4(KDR):c.406G>A (p.Val136Met)	KDR (V136M)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 134610	NM_002253.4(KDR):c.170G>C (p.Arg57Thr)	KDR (R57T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 135552	NM_002253.4(KDR):c.-1G>T	KDR	Single nucleotide variant (5 prime UTR variant)	KDR-related disorder	GBenign

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Items: 23