ClinVar for MedGen (Select 355573) - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3237450	NM_002253.4(KDR):c.1616G>A (p.Gly539Glu)	KDR (G539E)	Single nucleotide variant (missense variant)	Capillary infantile hemangioma	GUncertain significance
Select item 2672215	NM_002253.4(KDR):c.3663T>C (p.Ser1221=)	KDR	Single nucleotide variant (synonymous variant)	Capillary infantile hemangioma	GUncertain significance
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 1710210	NM_002253.4(KDR):c.3006G>C (p.Leu1002Phe)	KDR (L1002F)	Single nucleotide variant (missense variant)	Capillary infantile hemangioma	GUncertain significance
Select item 1691352	NM_001291303.3(FAT4):c.13985C>G (p.Ala4662Gly)	FAT4 (A4660G +2 more)	Single nucleotide variant (missense variant)	Capillary infantile hemangioma	GUncertain significance
Select item 1691351	NM_001291303.3(FAT4):c.9273C>A (p.Phe3091Leu)	FAT4 (F3089L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1691335	NM_002890.3(RASA1):c.1657dup (p.Tyr553fs)	CCNH, RASA1 (Y376fs +1 more)	Duplication (frameshift variant +1 more)	Capillary infantile hemangioma	GPathogenic
Select item 545478	NM_002473.6(MYH9):c.5308C>T (p.Arg1770Cys)	MYH9 (R1770C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 518355	NM_002253.4(KDR):c.3848+15T>C	KDR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 445474	NM_032208.3(ANTXR1):c.1553C>T (p.Ala518Val)	ANTXR1 (A518V)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 262019	NM_032208.3(ANTXR1):c.1185+16C>A	ANTXR1	Single nucleotide variant (intron variant)	GAPO syndrome +3 more	GBenign
Select item 16264	NM_182925.5(FLT4):c.2860C>T (p.Pro954Ser)	FLT4 (P954S)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
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 12317	NM_002253.4(KDR):c.3439C>T (p.Pro1147Ser)	KDR (P1147S)	Single nucleotide variant (missense variant)	Capillary infantile hemangioma	GPathogenic
Select item 4390	NM_032208.3(ANTXR1):c.976G>A (p.Ala326Thr)	ANTXR1 (A326T)	Single nucleotide variant (missense variant)	Capillary infantile hemangioma	Grisk factor