C5193005[trait identifier] AND "OMIM"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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

ClinVar