"OMIM"[submitter] AND "PDGFRA"[gene] - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 39616	NM_006206.6(PDGFRA):c.1202C>A (p.Ala401Asp)	PDGFRA (A401D +2 more)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor +2 more	GBenign/Likely benign
Select item 39617	NM_006206.6(PDGFRA):c.1631T>C (p.Val544Ala)	PDGFRA (V544A +2 more)	Single nucleotide variant (missense variant)	Idiopathic hypereosinophilic syndrome +4 more	GConflicting classifications of pathogenicity
Select item 13552	NM_006206.6(PDGFRA):c.1664A>G (p.Tyr555Cys)	PDGFRA (Y555C +2 more)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor	GLikely pathogenic
Select item 13547	NM_006206.6(PDGFRA):c.1681_1682insAGAGGG (p.Arg560_Val561insGluArg)	PDGFRA	Insertion (inframe_insertion)	Gastrointestinal stromal tumor	GPathogenic
Select item 13548	NM_006206.6(PDGFRA):c.1679_1693del (p.Arg560_Ser564del)	PDGFRA	Deletion (inframe_deletion)	Gastrointestinal stromal tumor	GPathogenic
Select item 13546	NM_006206.6(PDGFRA):c.1682T>A (p.Val561Asp)	PDGFRA (V561D +2 more)	Single nucleotide variant (missense variant)	Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal +2 more	GConflicting classifications of pathogenicity
Select item 13549	NM_006206.6(PDGFRA):c.1696_1713del (p.Ser566_Glu571del)	PDGFRA	Deletion (inframe_deletion)	Gastrointestinal stromal tumor	GPathogenic
Select item 635777	NM_006206.6(PDGFRA):c.1957_1958delinsTT (p.Pro653Leu)	PDGFRA (P666L +1 more)	Indel (missense variant)	Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal	GPathogenic
Select item 13550	NM_006206.6(PDGFRA):c.2021C>T (p.Thr674Ile)	PDGFRA (T674I +2 more)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor	GUncertain significance
Select item 13544	NM_006206.6(PDGFRA):c.2526_2537del (p.Ile843_Asp846del)	PDGFRA	Deletion (inframe_deletion)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 13543	NM_006206.6(PDGFRA):c.2525A>T (p.Asp842Val)	PDGFRA (D842V +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 13545	NM_006206.6(PDGFRA):c.2533_2544del (p.His845_Asn848del)	PDGFRA	Deletion (inframe_deletion)	Gastrointestinal stromal tumor	GPathogenic
Select item 13551	NM_006206.6(PDGFRA):c.2536G>T (p.Asp846Tyr)	PDGFRA (D846Y +2 more)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor	GUncertain significance
Select item 635778	NM_006206.6(PDGFRA):c.2537A>T (p.Asp846Val)	PDGFRA (D859V +1 more)	Single nucleotide variant (missense variant)	Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal	GPathogenic
Select item 39618	NM_006206.6(PDGFRA):c.3155C>T (p.Thr1052Met)	PDGFRA (T1052M +2 more)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor +3 more	GConflicting classifications of pathogenicity