ClinVar for MedGen (Select 815975) - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2920728	NM_002608.4(PDGFB):c.-318C>T	PDGFB	Single nucleotide variant (5 prime UTR variant)	Basal ganglia calcification, idiopathic, 5	GLikely pathogenic
Select item 2920727	NM_002608.4(PDGFB):c.-373C>G	PDGFB	Single nucleotide variant (5 prime UTR variant)	Basal ganglia calcification, idiopathic, 5	GLikely pathogenic
Select item 1806159	NM_002608.4(PDGFB):c.70C>A (p.Pro24Thr)	PDGFB (P24T +1 more)	Single nucleotide variant (missense variant)	Basal ganglia calcification, idiopathic, 5	GUncertain significance
Select item 1690643	NM_002608.4(PDGFB):c.598C>T (p.Arg200Ter)	PDGFB (R185* +1 more)	Single nucleotide variant (nonsense)	Basal ganglia calcification, idiopathic, 5 +1 more	GConflicting classifications of pathogenicity
Select item 1679380	NM_002608.4(PDGFB):c.298C>T (p.Arg100Cys)	PDGFB (R100C +1 more)	Single nucleotide variant (missense variant)	Basal ganglia calcification, idiopathic, 5 +1 more	GUncertain significance
Select item 1029462	NM_002608.4(PDGFB):c.71C>A (p.Pro24His)	PDGFB (P9H +1 more)	Single nucleotide variant (missense variant)	Basal ganglia calcification, idiopathic, 5	GUncertain significance
Select item 976390	NM_002608.4(PDGFB):c.1A>G (p.Met1Val)	PDGFB (M1V)	Single nucleotide variant (missense variant +1 more)	Basal ganglia calcification, idiopathic, 5	GLikely pathogenic
Select item 75245	NM_002608.4(PDGFB):c.3G>A (p.Met1Ile)	PDGFB (M1I)	Single nucleotide variant (missense variant +1 more)	Basal ganglia calcification, idiopathic, 5	GPathogenic
Select item 75243	NM_002608.4(PDGFB):c.445C>T (p.Arg149Ter)	PDGFB (R149* +1 more)	Single nucleotide variant (nonsense)	Basal ganglia calcification, idiopathic, 5 +1 more	GPathogenic
Select item 75241	NM_002608.4(PDGFB):c.726G>C (p.Ter242Tyr)	PDGFB	Single nucleotide variant (stop lost)	Basal ganglia calcification, idiopathic, 5	GPathogenic
Select item 75239	NM_002608.4(PDGFB):c.356T>C (p.Leu119Pro)	PDGFB (L119P +1 more)	Single nucleotide variant (missense variant)	Basal ganglia calcification, idiopathic, 5	GPathogenic
Select item 75237	NM_002608.4(PDGFB):c.433C>T (p.Gln145Ter)	PDGFB (Q145* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic