Related gene-specific medical variations for Gene (Select 5159) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2434631	NM_002609.4(PDGFRB):c.2549A>G (p.Asp850Gly)	PDGFRB (D689G +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2432540	NM_002609.4(PDGFRB):c.2566A>T (p.Asn856Tyr)	PDGFRB (N695Y +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1342481	NM_002609.4(PDGFRB):c.1090G>A (p.Glu364Lys)	PDGFRB (E203K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1282018	NM_002609.4(PDGFRB):c.1128-135C>T	LOC132089189, PDGFRB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1190776	NM_002609.4(PDGFRB):c.1128-202T>C	LOC132089189, PDGFRB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 932040	NM_002609.4(PDGFRB):c.2402T>C (p.Met801Thr)	PDGFRB (M640T +2 more)	Single nucleotide variant (missense variant)	Basal ganglia calcification, idiopathic, 4	GUncertain significance
Select item 931386	NM_002609.4(PDGFRB):c.1686C>G (p.Tyr562Ter)	PDGFRB (Y498* +2 more)	Single nucleotide variant (nonsense)	Basal ganglia calcification, idiopathic, 4	GUncertain significance
Select item 691863	NC_000005.9:g.149505067_149505080delins[g.149502629_149502780dup]	PDGFRB	Complex	Imatinib response	Gdrug response

ClinVar