C4551572[trait identifier] AND "Demoulin lab, University of Louvain"[s - ClinVar

	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 3237207	NM_002609.4(PDGFRB):c.2548G>T (p.Asp850Tyr)	PDGFRB (D689Y +2 more)	Single nucleotide variant (missense variant)	Myofibromatosis, infantile, 1	GPathogenic
Select item 3233448	NM_002609.4(PDGFRB):c.2546_2548del (p.Arg849_Asp850delinsHis)	PDGFRB	Deletion (inframe_indel)	Myofibromatosis, infantile, 1	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 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 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

ClinVar