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Links from MedGen

Items: 1 to 100 of 179

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PDGFRA
(N947S +2 more)
Single nucleotide variant
(missense variant)
Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal
+1 more
GUncertain significance
PDGFRA
(R610L +2 more)
Single nucleotide variant
(missense variant)
Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal
+1 more
GUncertain significance
PDGFRA
(P292T +2 more)
Single nucleotide variant
(missense variant)
Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal
+1 more
GUncertain significance
PDGFRA
(G268D +2 more)
Single nucleotide variant
(missense variant)
Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal
+1 more
GUncertain significance
PDGFRA
(A810G +2 more)
Single nucleotide variant
(missense variant)
Idiopathic hypereosinophilic syndrome
GUncertain significance
PDGFRA
(T1005I +2 more)
Single nucleotide variant
(missense variant)
Gastrointestinal stromal tumor
+1 more
GUncertain significance
PDGFRA
(Q1035H +2 more)
Single nucleotide variant
(missense variant)
Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal
+3 more
GUncertain significance
PDGFRA
Single nucleotide variant
(intron variant)
Idiopathic hypereosinophilic syndrome
+3 more
GConflicting classifications of pathogenicity
PDGFRA
(V930L +2 more)
Single nucleotide variant
(missense variant)
Idiopathic hypereosinophilic syndrome
+2 more
GUncertain significance
PDGFRA
(Q741* +2 more)
Single nucleotide variant
(nonsense)
Idiopathic hypereosinophilic syndrome
GUncertain significance
PDGFRA
Single nucleotide variant
(3 prime UTR variant)
Gastrointestinal stromal tumor
+1 more
GConflicting classifications of pathogenicity
PDGFRA
Single nucleotide variant
(3 prime UTR variant)
Idiopathic hypereosinophilic syndrome
+1 more
GUncertain significance
PDGFRA
(K666N +2 more)
Single nucleotide variant
(missense variant)
Gastrointestinal stromal tumor
+1 more
GUncertain significance
PDGFRA
Single nucleotide variant
(3 prime UTR variant)
Gastrointestinal stromal tumor
+1 more
GBenign/Likely benign
PDGFRA
Single nucleotide variant
(3 prime UTR variant)
Gastrointestinal stromal tumor
+1 more
GUncertain significance
PDGFRA
Single nucleotide variant
(3 prime UTR variant)
Gastrointestinal stromal tumor
+1 more
GUncertain significance
PDGFRA
Single nucleotide variant
(3 prime UTR variant)
Gastrointestinal stromal tumor
+1 more
GUncertain significance
PDGFRA
Single nucleotide variant
(3 prime UTR variant)
Gastrointestinal stromal tumor
+1 more
GUncertain significance
PDGFRA
Single nucleotide variant
(3 prime UTR variant)
Idiopathic hypereosinophilic syndrome
+1 more
GBenign
PDGFRA
Single nucleotide variant
(3 prime UTR variant)
Gastrointestinal stromal tumor
+1 more
GUncertain significance
PDGFRA
Single nucleotide variant
(synonymous variant)
Idiopathic hypereosinophilic syndrome
+2 more
GConflicting classifications of pathogenicity
PDGFRA
Single nucleotide variant
(synonymous variant)
Idiopathic hypereosinophilic syndrome
+1 more
GConflicting classifications of pathogenicity
PDGFRA
Single nucleotide variant
(3 prime UTR variant)
Gastrointestinal stromal tumor
+1 more
GUncertain significance
PDGFRA
Single nucleotide variant
(3 prime UTR variant)
Gastrointestinal stromal tumor
+1 more
GUncertain significance
PDGFRA
Single nucleotide variant
(3 prime UTR variant)
Gastrointestinal stromal tumor
+1 more
GUncertain significance
PDGFRA
Single nucleotide variant
(3 prime UTR variant)
Gastrointestinal stromal tumor
+1 more
GBenign/Likely benign
PDGFRA
Single nucleotide variant
(3 prime UTR variant)
Gastrointestinal stromal tumor
+1 more
GConflicting classifications of pathogenicity
PDGFRA
Single nucleotide variant
(3 prime UTR variant)
Gastrointestinal stromal tumor
+1 more
GUncertain significance
PDGFRA
Single nucleotide variant
(3 prime UTR variant)
Gastrointestinal stromal tumor
+1 more
GUncertain significance
PDGFRA
Single nucleotide variant
(3 prime UTR variant)
Gastrointestinal stromal tumor
+1 more
GUncertain significance
PDGFRA
Single nucleotide variant
(3 prime UTR variant)
Gastrointestinal stromal tumor
+1 more
GUncertain significance
PDGFRA
Single nucleotide variant
(3 prime UTR variant)
Gastrointestinal stromal tumor
+1 more
GBenign
PDGFRA
Single nucleotide variant
(3 prime UTR variant)
Gastrointestinal stromal tumor
+1 more
GUncertain significance
PDGFRA
(L595P +2 more)
Single nucleotide variant
(missense variant)
Gastrointestinal stromal tumor
+1 more
GUncertain significance
PDGFRA
Single nucleotide variant
(3 prime UTR variant)
Gastrointestinal stromal tumor
+1 more
GBenign/Likely benign
PDGFRA
Single nucleotide variant
(3 prime UTR variant)
Idiopathic hypereosinophilic syndrome
+1 more
GUncertain significance
PDGFRA
Single nucleotide variant
(3 prime UTR variant)
Idiopathic hypereosinophilic syndrome
+1 more
GUncertain significance
PDGFRA
Single nucleotide variant
(3 prime UTR variant)
Idiopathic hypereosinophilic syndrome
+1 more
GUncertain significance
PDGFRA
Single nucleotide variant
(3 prime UTR variant)
Idiopathic hypereosinophilic syndrome
+1 more
GUncertain significance
PDGFRA
Single nucleotide variant
(synonymous variant)
Idiopathic hypereosinophilic syndrome
+2 more
GConflicting classifications of pathogenicity
PDGFRA
Single nucleotide variant
(intron variant)
Idiopathic hypereosinophilic syndrome
+1 more
GUncertain significance
PDGFRA
(T1017A +2 more)
Single nucleotide variant
(missense variant)
Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal
+3 more
GUncertain significance
PDGFRA
(T365I +2 more)
Single nucleotide variant
(missense variant)
Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal
+3 more
GUncertain significance
PDGFRA
Single nucleotide variant
(synonymous variant)
Hereditary cancer-predisposing syndrome
+2 more
GConflicting classifications of pathogenicity
PDGFRA
(E1009K +2 more)
Single nucleotide variant
(missense variant)
Idiopathic hypereosinophilic syndrome
+2 more
GUncertain significance
PDGFRA
Single nucleotide variant
(synonymous variant)
Gastrointestinal stromal tumor
+3 more
GConflicting classifications of pathogenicity
PDGFRA
(V499M +2 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
PDGFRA
(D444H +2 more)
Single nucleotide variant
(missense variant)
Gastrointestinal stromal tumor
+3 more
GConflicting classifications of pathogenicity
PDGFRA
(I1067T +2 more)
Single nucleotide variant
(missense variant)
Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal
+2 more
GUncertain significance
PDGFRA
(V193I +2 more)
Single nucleotide variant
(missense variant)
Idiopathic hypereosinophilic syndrome
+1 more
GUncertain significance
PDGFRA
(I657T +2 more)
Single nucleotide variant
(missense variant)
Idiopathic hypereosinophilic syndrome
+3 more
GConflicting classifications of pathogenicity
PDGFRA
Single nucleotide variant
(synonymous variant)
Hereditary cancer-predisposing syndrome
+2 more
GConflicting classifications of pathogenicity
PDGFRA
(R293H +2 more)
Single nucleotide variant
(missense variant)
Gastrointestinal stromal tumor
+3 more
GUncertain significance
PDGFRA
(Y405C +2 more)
Single nucleotide variant
(missense variant)
Gastrointestinal stromal tumor
+3 more
GUncertain significance
PDGFRA
(G17V +2 more)
Single nucleotide variant
(missense variant)
Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal
+4 more
GConflicting classifications of pathogenicity
PDGFRA
(N163K +2 more)
Single nucleotide variant
(missense variant)
Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal
+3 more
GUncertain significance
PDGFRA
(T632M +2 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
PDGFRA
(I543T +2 more)
Single nucleotide variant
(missense variant)
Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal
+3 more
GConflicting classifications of pathogenicity
PDGFRA
Single nucleotide variant
(synonymous variant)
Gastrointestinal stromal tumor
+2 more
GConflicting classifications of pathogenicity
PDGFRA
Single nucleotide variant
(synonymous variant)
Idiopathic hypereosinophilic syndrome
+2 more
GConflicting classifications of pathogenicity
PDGFRA
(S427L +2 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
PDGFRA
Single nucleotide variant
(intron variant)
Idiopathic hypereosinophilic syndrome
+1 more
GConflicting classifications of pathogenicity
PDGFRA
(D1069G +2 more)
Single nucleotide variant
(missense variant)
Gastrointestinal stromal tumor
+3 more
GConflicting classifications of pathogenicity
PDGFRA
(K492T +2 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+3 more
GUncertain significance
PDGFRA
(H425R +2 more)
Single nucleotide variant
(missense variant)
Gastrointestinal stromal tumor
+4 more
GConflicting classifications of pathogenicity
PDGFRA
(Q551K +2 more)
Single nucleotide variant
(missense variant)
Gastrointestinal stromal tumor
+2 more
GUncertain significance
PDGFRA
(I989V +2 more)
Single nucleotide variant
(missense variant)
Gastrointestinal stromal tumor
+4 more
GConflicting classifications of pathogenicity
PDGFRA
(A280S +2 more)
Single nucleotide variant
(missense variant)
Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal
+3 more
GConflicting classifications of pathogenicity
PDGFRA
(P553L +2 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+4 more
GUncertain significance
PDGFRA
(T1066I +2 more)
Single nucleotide variant
(missense variant)
Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal
+2 more
GUncertain significance
PDGFRA
Single nucleotide variant
Gastrointestinal stromal tumor
+1 more
GLikely benign
PDGFRA
Single nucleotide variant
(3 prime UTR variant)
Gastrointestinal stromal tumor
+2 more
GConflicting classifications of pathogenicity
PDGFRA
Single nucleotide variant
(3 prime UTR variant)
Idiopathic hypereosinophilic syndrome
+1 more
GUncertain significance
PDGFRA
Single nucleotide variant
(3 prime UTR variant)
Idiopathic hypereosinophilic syndrome
+1 more
GUncertain significance
PDGFRA
Single nucleotide variant
(3 prime UTR variant)
Idiopathic hypereosinophilic syndrome
+1 more
GUncertain significance
PDGFRA
Single nucleotide variant
(3 prime UTR variant)
Idiopathic hypereosinophilic syndrome
+2 more
GBenign
PDGFRA
Single nucleotide variant
(3 prime UTR variant)
Idiopathic hypereosinophilic syndrome
+1 more
GBenign/Likely benign
PDGFRA
Single nucleotide variant
(3 prime UTR variant)
Idiopathic hypereosinophilic syndrome
+2 more
GBenign/Likely benign
PDGFRA
Single nucleotide variant
(3 prime UTR variant)
Idiopathic hypereosinophilic syndrome
+1 more
GUncertain significance
PDGFRA
Single nucleotide variant
(3 prime UTR variant)
Idiopathic hypereosinophilic syndrome
+1 more
GUncertain significance
PDGFRA
Single nucleotide variant
(3 prime UTR variant)
Idiopathic hypereosinophilic syndrome
+1 more
GUncertain significance
PDGFRA
Single nucleotide variant
(3 prime UTR variant)
not provided
+2 more
GBenign
PDGFRA
Single nucleotide variant
(3 prime UTR variant)
Idiopathic hypereosinophilic syndrome
+1 more
GConflicting classifications of pathogenicity
PDGFRA
Single nucleotide variant
(3 prime UTR variant)
Idiopathic hypereosinophilic syndrome
+1 more
GBenign/Likely benign
PDGFRA
Single nucleotide variant
(3 prime UTR variant)
Idiopathic hypereosinophilic syndrome
+1 more
GUncertain significance
PDGFRA
Single nucleotide variant
(3 prime UTR variant)
Idiopathic hypereosinophilic syndrome
+1 more
GUncertain significance
PDGFRA
Single nucleotide variant
(3 prime UTR variant)
Idiopathic hypereosinophilic syndrome
+2 more
GUncertain significance
PDGFRA
Single nucleotide variant
(3 prime UTR variant)
Idiopathic hypereosinophilic syndrome
+1 more
GBenign
PDGFRA
Single nucleotide variant
(3 prime UTR variant)
Idiopathic hypereosinophilic syndrome
+1 more
GUncertain significance
PDGFRA
Single nucleotide variant
(3 prime UTR variant)
Idiopathic hypereosinophilic syndrome
+1 more
GUncertain significance
PDGFRA
Single nucleotide variant
(3 prime UTR variant)
Idiopathic hypereosinophilic syndrome
+1 more
GUncertain significance
PDGFRA
Single nucleotide variant
(3 prime UTR variant)
Idiopathic hypereosinophilic syndrome
+1 more
GUncertain significance
PDGFRA
Single nucleotide variant
(3 prime UTR variant)
Idiopathic hypereosinophilic syndrome
+1 more
GBenign/Likely benign
PDGFRA
Single nucleotide variant
(3 prime UTR variant)
Idiopathic hypereosinophilic syndrome
+1 more
GUncertain significance
PDGFRA
Single nucleotide variant
(3 prime UTR variant)
Gastrointestinal stromal tumor
+2 more
GBenign
PDGFRA
Single nucleotide variant
(3 prime UTR variant)
Gastrointestinal stromal tumor
+2 more
GBenign
PDGFRA
Single nucleotide variant
(3 prime UTR variant)
Idiopathic hypereosinophilic syndrome
+2 more
GBenign
PDGFRA
Deletion
(3 prime UTR variant)
Idiopathic hypereosinophilic syndrome
+1 more
GUncertain significance
PDGFRA
Deletion
(3 prime UTR variant)
Gastrointestinal stromal tumor
+1 more
GUncertain significance
PDGFRA
Deletion
(3 prime UTR variant)
Gastrointestinal stromal tumor
+2 more
GUncertain significance
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