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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PDGFRB
Single nucleotide variant
(synonymous variant)
Acroosteolysis-keloid-like lesions-premature aging syndrome
+7 more
GBenign/Likely benign
PDGFRB
Single nucleotide variant
(synonymous variant)
Basal ganglia calcification, idiopathic, 4
+4 more
GBenign
PDGFRB
(R709H +2 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
PDGFRB
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
PDGFRB
(V316M +2 more)
Single nucleotide variant
(missense variant)
Infantile myofibromatosis
+6 more
GBenign/Likely benign
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