C0432284[trait identifier] AND "Demoulin lab, University of Louvain"[s - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1486244	NM_002609.4(PDGFRB):c.2905-8G>A	PDGFRB	Single nucleotide variant (intron variant)	Acroosteolysis-keloid-like lesions-premature aging syndrome +3 more	GUncertain significance
Select item 375681	NM_002609.4(PDGFRB):c.2549A>T (p.Asp850Val)	PDGFRB (D850V +2 more)	Single nucleotide variant (missense variant)	Infantile myofibromatosis	GPathogenic
Select item 375556	NM_002609.4(PDGFRB):c.1998C>G (p.Asn666Lys)	PDGFRB (N666K +2 more)	Single nucleotide variant (missense variant)	Infantile myofibromatosis	GPathogenic
Select item 218935	NM_002609.4(PDGFRB):c.1998C>A (p.Asn666Lys)	PDGFRB (N666K +2 more)	Single nucleotide variant (missense variant)	Infantile myofibromatosis +2 more	GPathogenic/Likely pathogenic
Select item 973195	NM_002609.4(PDGFRB):c.1716_1717insGAGCTGATCCGATGGAAGGTGATTGAGTCTGTG (p.Val572_Ser573insGluLeuIleArgTrpLysValIleGluSerVal)	PDGFRB	Microsatellite (inframe_insertion)	Infantile myofibromatosis	GPathogenic
Select item 375555	NM_002609.4(PDGFRB):c.1697_1702del (p.Trp566_Val568delinsLeu)	PDGFRB	Deletion (inframe_indel)	Infantile myofibromatosis	GPathogenic
Select item 375682	NM_002609.4(PDGFRB):c.1696T>C (p.Trp566Arg)	PDGFRB (W566R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 973197	NM_002609.4(PDGFRB):c.1684T>G (p.Tyr562Asp)	PDGFRB (Y562D +2 more)	Single nucleotide variant (missense variant)	Infantile myofibromatosis	GPathogenic
Select item 973196	NM_002609.4(PDGFRB):c.1682_1684del (p.Arg561_Tyr562delinsHis)	PDGFRB	Deletion (inframe_indel)	Infantile myofibromatosis	GPathogenic
Select item 55848	NM_002609.4(PDGFRB):c.1681C>T (p.Arg561Cys)	PDGFRB (R561C +2 more)	Single nucleotide variant (missense variant)	Myofibromatosis, infantile, 1 +5 more	GPathogenic
Select item 375557	NM_002609.4(PDGFRB):c.1615_1616insGAT (p.Ile538_Leu539insArg)	PDGFRB	Insertion (inframe_insertion)	Infantile myofibromatosis	GPathogenic
Select item 973198	NM_002609.4(PDGFRB):c.1613T>A (p.Ile538Asn)	PDGFRB (I377N +2 more)	Single nucleotide variant (missense variant)	Infantile myofibromatosis	GPathogenic
Select item 973199	NM_002609.4(PDGFRB):c.1610C>A (p.Ala537Asp)	PDGFRB (A473D +2 more)	Single nucleotide variant (missense variant)	Acroosteolysis-keloid-like lesions-premature aging syndrome +1 more	GConflicting classifications of pathogenicity
Select item 973194	NM_002609.4(PDGFRB):c.1519_1520insTACTGTCGGTGC (p.Val506_Arg507insLeuLeuSerVal)	PDGFRB	Insertion (inframe_insertion)	Infantile myofibromatosis	GPathogenic