Related gene-specific medical variations for Gene (Select 5155) - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2434629	NM_002608.4(PDGFB):c.17C>T (p.Ala6Val)	PDGFB (A6V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1693356	NM_002608.4(PDGFB):c.63+2960TG[11]	LOC130067453, PDGFB	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1294448	NM_002608.4(PDGFB):c.63+2976T>C	LOC130067453, PDGFB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277144	NM_002608.4(PDGFB):c.63+2960TG[12]	LOC130067453, PDGFB	Microsatellite (intron variant)	not provided	GBenign
Select item 1245773	NM_002608.4(PDGFB):c.63+2958_63+2961del	LOC130067453, PDGFB	Deletion (intron variant)	not provided	GBenign
Select item 1234083	NM_002608.4(PDGFB):c.63+2978T>C	LOC130067453, PDGFB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233918	NM_002608.4(PDGFB):c.63+2942AG[8]	LOC130067453, PDGFB	Microsatellite (intron variant)	not provided	GBenign
Select item 1229741	NM_002608.4(PDGFB):c.63+2981_63+2982del	LOC130067453, PDGFB	Microsatellite (intron variant)	not provided	GBenign
Select item 1220886	NM_002608.4(PDGFB):c.63+2958A>T	LOC130067453, PDGFB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1183063	NM_002608.4(PDGFB):c.63+2960TG[9]	PDGFB, LOC130067453	Microsatellite (intron variant)	not provided	GLikely benign
Select item 930299	NM_002608.4(PDGFB):c.716T>C (p.Leu239Pro)	PDGFB (L224P +1 more)	Single nucleotide variant (missense variant)	Familial meningioma	GUncertain significance
Select item 12599	PDGFB, PDGFB/COL1A1 FUSION	PDGFB	Variation	Dermatofibrosarcoma protuberans	GPathogenic