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Links from MedGen

Items: 1 to 100 of 350

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PDGFRB
(G729R +2 more)
Single nucleotide variant
(missense variant)
Acroosteolysis-keloid-like lesions-premature aging syndrome
GUncertain significance
PDGFRB
Single nucleotide variant
(intron variant)
Basal ganglia calcification, idiopathic, 4
+3 more
GLikely benign
PDGFRB
Single nucleotide variant
(synonymous variant)
Basal ganglia calcification, idiopathic, 4
+3 more
GLikely benign
PDGFRB
(D688H +2 more)
Single nucleotide variant
(missense variant)
Basal ganglia calcification, idiopathic, 4
+3 more
GUncertain significance
PDGFRB
(V353M +2 more)
Single nucleotide variant
(missense variant)
Basal ganglia calcification, idiopathic, 4
+3 more
GUncertain significance
PDGFRB
(P205A +2 more)
Single nucleotide variant
(missense variant)
Basal ganglia calcification, idiopathic, 4
+3 more
GUncertain significance
PDGFRB
(T357M +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GBenign/Likely benign
PDGFRB
Single nucleotide variant
(intron variant)
Basal ganglia calcification, idiopathic, 4
+3 more
GBenign
PDGFRB
(T538fs +2 more)
Duplication
(frameshift variant)
Basal ganglia calcification, idiopathic, 4
+3 more
GUncertain significance
PDGFRB
(P4L)
Single nucleotide variant
(5 prime UTR variant +2 more)
Basal ganglia calcification, idiopathic, 4
+3 more
GBenign
PDGFRB
Single nucleotide variant
(intron variant)
Basal ganglia calcification, idiopathic, 4
+3 more
GLikely benign
PDGFRB
(V125M +1 more)
Single nucleotide variant
(missense variant +1 more)
Acroosteolysis-keloid-like lesions-premature aging syndrome
+3 more
GUncertain significance
PDGFRB
(L293F +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GConflicting classifications of pathogenicity
PDGFRB
(R86Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Acroosteolysis-keloid-like lesions-premature aging syndrome
+3 more
GUncertain significance
PDGFRB
Single nucleotide variant
(synonymous variant +1 more)
Acroosteolysis-keloid-like lesions-premature aging syndrome
+3 more
GLikely benign
PDGFRB
(R49W +1 more)
Single nucleotide variant
(missense variant +1 more)
Acroosteolysis-keloid-like lesions-premature aging syndrome
+3 more
GUncertain significance
PDGFRB
(V107F +1 more)
Single nucleotide variant
(missense variant +1 more)
Acroosteolysis-keloid-like lesions-premature aging syndrome
+3 more
GUncertain significance
PDGFRB
Single nucleotide variant
(intron variant)
Acroosteolysis-keloid-like lesions-premature aging syndrome
+3 more
GLikely benign
PDGFRB
Single nucleotide variant
(splice acceptor variant)
Acroosteolysis-keloid-like lesions-premature aging syndrome
+3 more
GUncertain significance
PDGFRB
Single nucleotide variant
(5 prime UTR variant +1 more)
Infantile myofibromatosis
+3 more
GLikely benign
PDGFRB
(R2W)
Single nucleotide variant
(5 prime UTR variant +2 more)
Infantile myofibromatosis
+3 more
GLikely benign
PDGFRB
Single nucleotide variant
(intron variant)
Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
+3 more
GLikely benign
PDGFRB
(V697L +2 more)
Single nucleotide variant
(missense variant)
Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
+3 more
GUncertain significance
PDGFRB
Single nucleotide variant
(intron variant)
Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
+3 more
GLikely benign
PDGFRB
(V386L +2 more)
Single nucleotide variant
(missense variant)
Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
+3 more
GUncertain significance
PDGFRB
Single nucleotide variant
(synonymous variant)
Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
+3 more
GLikely benign
PDGFRB
Single nucleotide variant
(synonymous variant)
Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
+3 more
GLikely benign
PDGFRB
Single nucleotide variant
(intron variant)
Acroosteolysis-keloid-like lesions-premature aging syndrome
+3 more
GLikely benign
PDGFRB
Single nucleotide variant
(intron variant)
Acroosteolysis-keloid-like lesions-premature aging syndrome
+3 more
GLikely benign
PDGFRB
Single nucleotide variant
(intron variant)
Acroosteolysis-keloid-like lesions-premature aging syndrome
+3 more
GLikely benign
PDGFRB
Single nucleotide variant
(intron variant)
Acroosteolysis-keloid-like lesions-premature aging syndrome
+3 more
GLikely benign
PDGFRB
(S667A +2 more)
Single nucleotide variant
(missense variant)
Acroosteolysis-keloid-like lesions-premature aging syndrome
+3 more
GUncertain significance
PDGFRB
(Y1009C +2 more)
Single nucleotide variant
(missense variant)
Infantile myofibromatosis
+3 more
GLikely benign
PDGFRB
Single nucleotide variant
(synonymous variant +1 more)
Infantile myofibromatosis
+3 more
GLikely benign
PDGFRB
(E121K +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GConflicting classifications of pathogenicity
PDGFRB
(R257Q +2 more)
Single nucleotide variant
(missense variant)
Infantile myofibromatosis
+3 more
GLikely benign
PDGFRB
(P154R +1 more)
Single nucleotide variant
(missense variant +1 more)
Acroosteolysis-keloid-like lesions-premature aging syndrome
+3 more
GUncertain significance
PDGFRB
(P999T +2 more)
Single nucleotide variant
(missense variant)
Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
+3 more
GLikely benign
PDGFRB
(S1092T +2 more)
Single nucleotide variant
(missense variant)
Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
+3 more
GUncertain significance
PDGFRB
(R447C +2 more)
Single nucleotide variant
(missense variant)
Infantile myofibromatosis
+3 more
GUncertain significance
PDGFRB
Single nucleotide variant
(synonymous variant)
Infantile myofibromatosis
+3 more
GLikely benign
PDGFRB
Single nucleotide variant
(synonymous variant +1 more)
Infantile myofibromatosis
+3 more
GLikely benign
PDGFRB
Single nucleotide variant
(synonymous variant)
Infantile myofibromatosis
+3 more
GBenign
PDGFRB
(P732S +2 more)
Single nucleotide variant
(missense variant)
Infantile myofibromatosis
+3 more
GUncertain significance
PDGFRB
(R64Q)
Single nucleotide variant
(5 prime UTR variant +1 more)
Infantile myofibromatosis
+3 more
GUncertain significance
PDGFRB
(P184L +2 more)
Single nucleotide variant
(missense variant)
Infantile myofibromatosis
+3 more
GUncertain significance
PDGFRB
Single nucleotide variant
(synonymous variant)
Acroosteolysis-keloid-like lesions-premature aging syndrome
+3 more
GLikely benign
PDGFRB
Single nucleotide variant
(synonymous variant +1 more)
Acroosteolysis-keloid-like lesions-premature aging syndrome
+3 more
GLikely benign
PDGFRB
(T124A +1 more)
Single nucleotide variant
(missense variant +1 more)
Acroosteolysis-keloid-like lesions-premature aging syndrome
+3 more
GLikely benign
PDGFRB
(A302T +2 more)
Single nucleotide variant
(missense variant)
Acroosteolysis-keloid-like lesions-premature aging syndrome
+3 more
GUncertain significance
PDGFRB
Single nucleotide variant
(synonymous variant +1 more)
Acroosteolysis-keloid-like lesions-premature aging syndrome
+3 more
GLikely benign
PDGFRB
(T528K +2 more)
Single nucleotide variant
(missense variant)
Acroosteolysis-keloid-like lesions-premature aging syndrome
+3 more
GUncertain significance
PDGFRB
(P560L +2 more)
Single nucleotide variant
(missense variant)
Acroosteolysis-keloid-like lesions-premature aging syndrome
+3 more
GPathogenic
PDGFRB
Single nucleotide variant
(synonymous variant)
PDGFRB-related disorder
+4 more
GLikely benign
PDGFRB
Single nucleotide variant
(intron variant)
Acroosteolysis-keloid-like lesions-premature aging syndrome
+3 more
GLikely benign
PDGFRB
(E1069K +2 more)
Single nucleotide variant
(missense variant)
Acroosteolysis-keloid-like lesions-premature aging syndrome
+3 more
GLikely benign
PDGFRB
Single nucleotide variant
(synonymous variant)
Acroosteolysis-keloid-like lesions-premature aging syndrome
+3 more
GLikely benign
PDGFRB
Single nucleotide variant
(intron variant)
Acroosteolysis-keloid-like lesions-premature aging syndrome
+3 more
GLikely benign
PDGFRB
Single nucleotide variant
(synonymous variant)
Acroosteolysis-keloid-like lesions-premature aging syndrome
+3 more
GLikely benign
PDGFRB
Single nucleotide variant
(intron variant)
Acroosteolysis-keloid-like lesions-premature aging syndrome
+3 more
GBenign
PDGFRB
Single nucleotide variant
(synonymous variant)
PDGFRB-related disorder
+4 more
GLikely benign
PDGFRB
(T431M +2 more)
Single nucleotide variant
(missense variant)
Acroosteolysis-keloid-like lesions-premature aging syndrome
+3 more
GUncertain significance
PDGFRB
Single nucleotide variant
(synonymous variant)
Acroosteolysis-keloid-like lesions-premature aging syndrome
+3 more
GBenign
PDGFRB
(E633K +2 more)
Single nucleotide variant
(missense variant)
Acroosteolysis-keloid-like lesions-premature aging syndrome
+3 more
GUncertain significance
PDGFRB
(H265Q +2 more)
Single nucleotide variant
(missense variant)
Acroosteolysis-keloid-like lesions-premature aging syndrome
+3 more
GUncertain significance
PDGFRB
Single nucleotide variant
(synonymous variant)
not provided
+4 more
GLikely benign
PDGFRB
Single nucleotide variant
(synonymous variant)
not provided
+5 more
GLikely benign
PDGFRB
(P427S +2 more)
Single nucleotide variant
(missense variant)
not specified
+4 more
GUncertain significance
PDGFRB
(P744L +2 more)
Single nucleotide variant
(missense variant)
Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
+3 more
GUncertain significance
PDGFRB
Single nucleotide variant
(synonymous variant)
Acroosteolysis-keloid-like lesions-premature aging syndrome
+4 more
GLikely benign
PDGFRB
(P20S +2 more)
Single nucleotide variant
(missense variant)
Basal ganglia calcification, idiopathic, 4
+3 more
GUncertain significance
PDGFRB
Single nucleotide variant
(intron variant)
Acroosteolysis-keloid-like lesions-premature aging syndrome
+3 more
GLikely benign
PDGFRB
(R333W +2 more)
Single nucleotide variant
(missense variant)
Infantile myofibromatosis
+4 more
GLikely benign
PDGFRB
(R209H +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GUncertain significance
PDGFRB
(V697I +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GConflicting classifications of pathogenicity
PDGFRB
(D770N +2 more)
Single nucleotide variant
(missense variant)
Acroosteolysis-keloid-like lesions-premature aging syndrome
+4 more
GConflicting classifications of pathogenicity
PDGFRB
(T564M +2 more)
Single nucleotide variant
(missense variant)
Acroosteolysis-keloid-like lesions-premature aging syndrome
+3 more
GLikely benign
PDGFRB
(D821N +2 more)
Single nucleotide variant
(missense variant)
Acroosteolysis-keloid-like lesions-premature aging syndrome
+3 more
GUncertain significance
PDGFRB
Single nucleotide variant
(intron variant)
Acroosteolysis-keloid-like lesions-premature aging syndrome
+3 more
GLikely benign
PDGFRB
Single nucleotide variant
(synonymous variant)
Acroosteolysis-keloid-like lesions-premature aging syndrome
+3 more
GLikely benign
PDGFRB
Single nucleotide variant
(synonymous variant)
Acroosteolysis-keloid-like lesions-premature aging syndrome
+3 more
GLikely benign
PDGFRB
Single nucleotide variant
(intron variant)
Acroosteolysis-keloid-like lesions-premature aging syndrome
+3 more
GBenign
PDGFRB
(T320M +2 more)
Single nucleotide variant
(missense variant)
Acroosteolysis-keloid-like lesions-premature aging syndrome
+3 more
GLikely benign
PDGFRB
Single nucleotide variant
(synonymous variant)
Acroosteolysis-keloid-like lesions-premature aging syndrome
+3 more
GLikely benign
PDGFRB
(G734R +2 more)
Single nucleotide variant
(missense variant)
Acroosteolysis-keloid-like lesions-premature aging syndrome
+3 more
GLikely benign
PDGFRB
Single nucleotide variant
(synonymous variant)
Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
+3 more
GLikely benign
PDGFRB
(Y753C +2 more)
Single nucleotide variant
(missense variant)
Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
+3 more
GUncertain significance
PDGFRB
(L815I +2 more)
Single nucleotide variant
(missense variant)
Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
+3 more
GLikely benign
PDGFRB
(R621H +2 more)
Single nucleotide variant
(missense variant)
Basal ganglia calcification, idiopathic, 4
+3 more
GUncertain significance
PDGFRB
(T128S +2 more)
Single nucleotide variant
(missense variant)
Basal ganglia calcification, idiopathic, 4
+3 more
GLikely benign
PDGFRB
Single nucleotide variant
(synonymous variant)
Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
+3 more
GLikely benign
PDGFRB
Single nucleotide variant
(intron variant)
Basal ganglia calcification, idiopathic, 4
+3 more
GLikely benign
PDGFRB
Single nucleotide variant
(synonymous variant)
Basal ganglia calcification, idiopathic, 4
+3 more
GLikely benign
PDGFRB
Single nucleotide variant
(intron variant)
Basal ganglia calcification, idiopathic, 4
+3 more
GLikely benign
PDGFRB
(S587L +2 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
PDGFRB
(R209C +2 more)
Single nucleotide variant
(missense variant)
Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
+3 more
GLikely benign
PDGFRB
Single nucleotide variant
(intron variant)
Acroosteolysis-keloid-like lesions-premature aging syndrome
+3 more
GLikely benign
PDGFRB
(R268W +2 more)
Single nucleotide variant
(missense variant)
Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
+3 more
GUncertain significance
PDGFRB
(D289H +2 more)
Single nucleotide variant
(missense variant)
Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
+3 more
GLikely benign
PDGFRB
(A449T +2 more)
Single nucleotide variant
(missense variant)
Acroosteolysis-keloid-like lesions-premature aging syndrome
+4 more
GUncertain significance
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