PDGFRB — 803 ClinVar variants

All ClinVar germline PDGFRB variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 357 flagged for review →

18 Pathogenic · 4 Pathogenic/Likely pathogenic · 5 Likely pathogenic · 42 Conflicting · 118 Benign · 25 Benign/Likely benign · 276 Likely benign · 315 Uncertain significance

Full PDGFRB gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 357

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors vs ClinVar 1

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

PDGFRB p.Arg561Cys Pathogenic Multiple submitters
infantile myofibromatosis

Predictors agree, ClinVar conflicts 23

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

PDGFRB p.Ala537Asp Conflicting Single submitter
acroosteolysis-keloid-like lesions-premature aging syndrome
PDGFRB p.Arg113Gln Conflicting Single submitter
acroosteolysis-keloid-like lesions-premature aging syndrome
PDGFRB p.Arg2Gln Conflicting Single submitter
basal ganglia calcification, idiopathic, 4
PDGFRB p.Arg496His Conflicting Single submitter
PDGFRB-related disorder
PDGFRB p.Arg709His Conflicting Single submitter
basal ganglia calcification, idiopathic, 4
PDGFRB p.Arg991Cys Conflicting Single submitter
Inborn genetic diseases
PDGFRB p.Asp1061Asn Conflicting Single submitter
acroosteolysis-keloid-like lesions-premature aging syndrome
PDGFRB p.Asp931Asn Conflicting Single submitter
acroosteolysis-keloid-like lesions-premature aging syndrome
PDGFRB p.Gln406Arg Conflicting Single submitter
Inborn genetic diseases
PDGFRB p.Gly467Arg Conflicting Single submitter
Inborn genetic diseases
PDGFRB p.Ile546Val Conflicting Single submitter
skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
PDGFRB p.Leu879Ile Conflicting Single submitter
skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
PDGFRB p.Pro4Gln Conflicting Single submitter
skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
PDGFRB p.Ser1092Leu Conflicting Single submitter
Inborn genetic diseases
PDGFRB p.Ser313Asn Conflicting Single submitter
Inborn genetic diseases
PDGFRB p.Thr124Ala Conflicting Single submitter
acroosteolysis-keloid-like lesions-premature aging syndrome
PDGFRB p.Thr369Met Conflicting Single submitter
acroosteolysis-keloid-like lesions-premature aging syndrome
PDGFRB p.Thr863Asn Conflicting Single submitter
infantile myofibromatosis
PDGFRB p.Thr902Ile Conflicting Single submitter
acroosteolysis-keloid-like lesions-premature aging syndrome
PDGFRB p.Tyr589Cys Conflicting Single submitter
skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
PDGFRB p.Val125Met Conflicting Single submitter
Inborn genetic diseases
PDGFRB p.Val722Ile Conflicting Single submitter
skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
PDGFRB p.Val761Ile Conflicting Single submitter
Inborn genetic diseases

Predictors lean, ClinVar uncertain 163

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 163

PDGFRB p.Ala513Thr Uncertain significance Multiple submitters
acroosteolysis-keloid-like lesions-premature aging syndrome
PDGFRB p.Ala828Val Uncertain significance Multiple submitters
acroosteolysis-keloid-like lesions-premature aging syndrome
PDGFRB p.Arg987Trp Uncertain significance Multiple submitters
basal ganglia calcification, idiopathic, 4
PDGFRB p.Asn1053Thr Uncertain significance Multiple submitters
basal ganglia calcification, idiopathic, 4
PDGFRB p.Asn292Ser Uncertain significance Multiple submitters
skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
PDGFRB p.Asp706Asn Uncertain significance Multiple submitters
Inborn genetic diseases
PDGFRB p.Asp850Gly Uncertain significance Multiple submitters
myofibromatosis, infantile, 1
PDGFRB p.Gln972Lys Uncertain significance Multiple submitters
skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
PDGFRB p.Glu15Lys Uncertain significance Multiple submitters
skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
PDGFRB p.Glu364Lys Uncertain significance Multiple submitters
PDGFRB p.Glu563Lys Uncertain significance Multiple submitters
PDGFRB-related disorder
PDGFRB p.Gly126Ala Uncertain significance Multiple submitters
basal ganglia calcification, idiopathic, 4
PDGFRB p.Gly32Ser Uncertain significance Multiple submitters
infantile myofibromatosis
PDGFRB p.Met554Val Uncertain significance Multiple submitters
Inborn genetic diseases
PDGFRB p.Phe351Tyr Uncertain significance Multiple submitters
skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
PDGFRB p.Pro154Arg Uncertain significance Multiple submitters
basal ganglia calcification, idiopathic, 4
PDGFRB p.Pro588Ser Uncertain significance Multiple submitters
basal ganglia calcification, idiopathic, 4
PDGFRB p.Ser1047Pro Uncertain significance Multiple submitters
Inborn genetic diseases
PDGFRB p.Ser313Gly Uncertain significance Multiple submitters
Inborn genetic diseases
PDGFRB p.Ser656Thr Uncertain significance Multiple submitters
acroosteolysis-keloid-like lesions-premature aging syndrome
PDGFRB p.Thr1004Ile Uncertain significance Multiple submitters
Inborn genetic diseases
PDGFRB p.Thr1054Ser Uncertain significance Multiple submitters
Inborn genetic diseases
PDGFRB p.Val51Ile Uncertain significance Multiple submitters
basal ganglia calcification, idiopathic, 4
PDGFRB p.Val779Ile Uncertain significance Multiple submitters
PDGFRB p.Ala1011Asp Uncertain significance Single submitter
Inborn genetic diseases
PDGFRB p.Ala1099Thr Uncertain significance Single submitter
PDGFRB p.Ala11Thr Uncertain significance Single submitter
Inborn genetic diseases
PDGFRB p.Ala366Thr Uncertain significance Single submitter
acroosteolysis-keloid-like lesions-premature aging syndrome
PDGFRB p.Ala389Pro Uncertain significance Single submitter
Inborn genetic diseases
PDGFRB p.Ala389Thr Uncertain significance Single submitter
PDGFRB p.Ala647Val Uncertain significance Single submitter
skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
PDGFRB p.Ala6Gly Uncertain significance Single submitter
infantile myofibromatosis
PDGFRB p.Ala713Thr Uncertain significance Single submitter
PDGFRB p.Ala713Val Uncertain significance Single submitter
PDGFRB p.Ala789Val Uncertain significance Single submitter
PDGFRB-related disorder
PDGFRB p.Ala984Thr Uncertain significance Single submitter
Inborn genetic diseases
PDGFRB p.Arg317Gln Uncertain significance Single submitter
infantile myofibromatosis
PDGFRB p.Arg332Gln Uncertain significance Single submitter
skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
PDGFRB p.Arg376Gln Uncertain significance Single submitter
basal ganglia calcification, idiopathic, 4
PDGFRB p.Arg385His Uncertain significance Single submitter
skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
PDGFRB p.Arg385Pro Uncertain significance Single submitter
PDGFRB p.Arg439Pro Uncertain significance Single submitter
PDGFRB p.Arg641Leu Uncertain significance Single submitter
Inborn genetic diseases
PDGFRB p.Arg685His Uncertain significance Single submitter
skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
PDGFRB p.Arg849Leu Uncertain significance Single submitter
PDGFRB p.Arg849Pro Uncertain significance Single submitter
basal ganglia calcification, idiopathic, 4
PDGFRB p.Arg999Pro Uncertain significance Single submitter
PDGFRB p.Asn1015Ser Uncertain significance Single submitter
Inborn genetic diseases
PDGFRB p.Asn1050Ser Uncertain significance Single submitter
Inborn genetic diseases
PDGFRB p.Asn371Lys Uncertain significance Single submitter
PDGFRB p.Asp200Asn Uncertain significance Single submitter
Inborn genetic diseases
PDGFRB p.Asp200Glu Uncertain significance Single submitter
PDGFRB p.Asp267Asn Uncertain significance Single submitter
Inborn genetic diseases
PDGFRB p.Asp299Glu Uncertain significance Single submitter
acroosteolysis-keloid-like lesions-premature aging syndrome
PDGFRB p.Asp359Asn Uncertain significance Single submitter
basal ganglia calcification, idiopathic, 4
PDGFRB p.Asp688His Uncertain significance Single submitter
skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
PDGFRB p.Asp706Glu Uncertain significance Single submitter
PDGFRB p.Asp776Glu Uncertain significance Single submitter
skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
PDGFRB p.Asp826Gly Uncertain significance Single submitter
PDGFRB p.Asp885Asn Uncertain significance Single submitter
acroosteolysis-keloid-like lesions-premature aging syndrome
PDGFRB p.Asp981Asn Uncertain significance Single submitter
PDGFRB p.Cys787Tyr Uncertain significance Single submitter
skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
PDGFRB p.Cys843Tyr Uncertain significance Single submitter
Inborn genetic diseases
PDGFRB p.Gln28Pro Uncertain significance Single submitter
Inborn genetic diseases
PDGFRB p.Gln31Lys Uncertain significance Single submitter
infantile myofibromatosis
PDGFRB p.Gln953Lys Uncertain significance Single submitter
PDGFRB p.Glu1031Lys Uncertain significance Single submitter
PDGFRB p.Glu133Lys Uncertain significance Single submitter
skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
PDGFRB p.Glu246Lys Uncertain significance Single submitter
basal ganglia calcification, idiopathic, 4
PDGFRB p.Glu471Gly Uncertain significance Single submitter
PDGFRB p.Glu472Val Uncertain significance Single submitter
Inborn genetic diseases
PDGFRB p.Glu477Asp Uncertain significance Single submitter
Inborn genetic diseases
PDGFRB p.Glu486Lys Uncertain significance Single submitter
PDGFRB-related disorder
PDGFRB p.Glu488Val Uncertain significance Single submitter
Inborn genetic diseases
PDGFRB p.Glu682Lys Uncertain significance Single submitter
Inborn genetic diseases
PDGFRB p.Glu976Val Uncertain significance Single submitter
PDGFRB p.Gly576Ser Uncertain significance Single submitter
basal ganglia calcification, idiopathic, 4
PDGFRB p.Gly674Arg Uncertain significance Single submitter
basal ganglia calcification, idiopathic, 4
PDGFRB p.Gly890Arg Uncertain significance Single submitter
acroosteolysis-keloid-like lesions-premature aging syndrome
PDGFRB p.His102Arg Uncertain significance Single submitter
Inborn genetic diseases
PDGFRB p.His175Arg Uncertain significance Single submitter
PDGFRB p.His331Tyr Uncertain significance Single submitter
infantile myofibromatosis
PDGFRB p.His393Arg Uncertain significance Single submitter
Inborn genetic diseases
PDGFRB p.His426Gln Uncertain significance Single submitter
basal ganglia calcification, idiopathic, 4
PDGFRB p.His426Pro Uncertain significance Single submitter
skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
PDGFRB p.His526Arg Uncertain significance Single submitter
Inborn genetic diseases
PDGFRB p.His526Tyr Uncertain significance Single submitter
infantile myofibromatosis
PDGFRB p.His704Arg Uncertain significance Single submitter
Inborn genetic diseases
PDGFRB p.Ile145Val Uncertain significance Single submitter
PDGFRB p.Ile236Thr Uncertain significance Single submitter
Inborn genetic diseases
PDGFRB p.Ile272Leu Uncertain significance Single submitter
PDGFRB p.Ile677Val Uncertain significance Single submitter
PDGFRB p.Ile851Met Uncertain significance Single submitter
Inborn genetic diseases
PDGFRB p.Ile851Thr Uncertain significance Single submitter
basal ganglia calcification, idiopathic, 4
PDGFRB p.Ile933Phe Uncertain significance Single submitter
basal ganglia calcification, idiopathic, 4
PDGFRB p.Ile985Thr Uncertain significance Single submitter
basal ganglia calcification, idiopathic, 4
PDGFRB p.Leu544Phe Uncertain significance Single submitter
acroosteolysis-keloid-like lesions-premature aging syndrome
PDGFRB p.Leu587Pro Uncertain significance Single submitter
acroosteolysis-keloid-like lesions-premature aging syndrome
PDGFRB p.Leu658Phe Uncertain significance Single submitter
PDGFRB p.Leu724Val Uncertain significance Single submitter
PDGFRB p.Leu90His Uncertain significance Single submitter
PDGFRB p.Lys114Thr Uncertain significance Single submitter
Inborn genetic diseases
PDGFRB p.Lys191Arg Uncertain significance Single submitter
PDGFRB p.Lys567Arg Uncertain significance Single submitter
PDGFRB p.Lys745Glu Uncertain significance Single submitter
PDGFRB p.Lys762Arg Uncertain significance Single submitter
Inborn genetic diseases
PDGFRB p.Lys868Asn Uncertain significance Single submitter
Inborn genetic diseases
PDGFRB p.Met629Lys Uncertain significance Single submitter
Inborn genetic diseases
PDGFRB p.Met629Thr Uncertain significance Single submitter
Inborn genetic diseases
PDGFRB p.Met741Thr Uncertain significance Single submitter
skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
PDGFRB p.Met757Thr Uncertain significance Single submitter
acroosteolysis-keloid-like lesions-premature aging syndrome
PDGFRB p.Met757Val Uncertain significance Single submitter
PDGFRB p.Met801Thr Uncertain significance Single submitter
basal ganglia calcification, idiopathic, 4
PDGFRB p.Met852Ile Uncertain significance Single submitter
Inborn genetic diseases
PDGFRB p.Met937Ile Uncertain significance Single submitter
PDGFRB p.Met937Thr Uncertain significance Single submitter
PDGFRB p.Pro1014Ser Uncertain significance Single submitter
skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
PDGFRB p.Pro1090Leu Uncertain significance Single submitter
Inborn genetic diseases
PDGFRB p.Pro148Leu Uncertain significance Single submitter
Inborn genetic diseases
PDGFRB p.Pro154Ser Uncertain significance Single submitter
basal ganglia calcification, idiopathic, 4
PDGFRB p.Pro250Ala Uncertain significance Single submitter
Inborn genetic diseases
PDGFRB p.Pro269Ala Uncertain significance Single submitter
basal ganglia calcification, idiopathic, 4
PDGFRB p.Pro27Ser Uncertain significance Single submitter
Inborn genetic diseases
PDGFRB p.Pro345Leu Uncertain significance Single submitter
acroosteolysis-keloid-like lesions-premature aging syndrome
PDGFRB p.Pro346Leu Uncertain significance Single submitter
PDGFRB p.Pro444Ala Uncertain significance Single submitter
PDGFRB p.Pro458Ser Uncertain significance Single submitter
Inborn genetic diseases
PDGFRB p.Pro463Leu Uncertain significance Single submitter
myofibromatosis, infantile, 1
PDGFRB p.Pro660Thr Uncertain significance Single submitter
acroosteolysis-keloid-like lesions-premature aging syndrome
PDGFRB p.Pro676Leu Uncertain significance Single submitter
Inborn genetic diseases
PDGFRB p.Pro710Ser Uncertain significance Single submitter
Inborn genetic diseases
PDGFRB p.Pro753Ser Uncertain significance Single submitter
PDGFRB p.Pro796Ser Uncertain significance Single submitter
acroosteolysis-keloid-like lesions-premature aging syndrome
PDGFRB p.Pro8Ala Uncertain significance Single submitter
PDGFRB p.Pro905Leu Uncertain significance Single submitter
skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
PDGFRB p.Pro905Thr Uncertain significance Single submitter
PDGFRB p.Ser1062Arg Uncertain significance Single submitter
basal ganglia calcification, idiopathic, 4
PDGFRB p.Ser1092Thr Uncertain significance Single submitter
skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
PDGFRB p.Ser361Thr Uncertain significance Single submitter
skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
PDGFRB p.Ser425Gly Uncertain significance Single submitter
skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
PDGFRB p.Ser474Arg Uncertain significance Single submitter
Inborn genetic diseases
PDGFRB p.Ser608Pro Uncertain significance Single submitter
Inborn genetic diseases
PDGFRB p.Ser980Arg Uncertain significance Single submitter
PDGFRB p.Thr1010Ile Uncertain significance Single submitter
infantile myofibromatosis
PDGFRB p.Thr433Arg Uncertain significance Single submitter
basal ganglia calcification, idiopathic, 4
PDGFRB p.Thr478Ser Uncertain significance Single submitter
Inborn genetic diseases
PDGFRB p.Thr592Lys Uncertain significance Single submitter
acroosteolysis-keloid-like lesions-premature aging syndrome
PDGFRB p.Thr592Met Uncertain significance Single submitter
acroosteolysis-keloid-like lesions-premature aging syndrome
PDGFRB p.Trp593Arg Uncertain significance Single submitter
acroosteolysis-keloid-like lesions-premature aging syndrome
PDGFRB p.Tyr173Cys Uncertain significance Single submitter

Predictors split 170

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 170

PDGFRB p.Arg113Trp Uncertain significance Multiple submitters
basal ganglia calcification, idiopathic, 4
PDGFRB p.Arg177His Uncertain significance Multiple submitters
myofibromatosis, infantile, 1
PDGFRB p.Arg2Trp Likely benign Multiple submitters
skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
PDGFRB p.Arg355His Uncertain significance Multiple submitters
infantile myofibromatosis
PDGFRB p.Arg370His Uncertain significance Multiple submitters
acroosteolysis-keloid-like lesions-premature aging syndrome
PDGFRB p.Arg397Trp Likely benign Multiple submitters
Inborn genetic diseases
PDGFRB p.Arg507His Benign/Likely benign Multiple submitters
infantile myofibromatosis
PDGFRB p.Arg604Cys Uncertain significance Multiple submitters
PDGFRB-related disorder
PDGFRB p.Asn307Ser Uncertain significance Multiple submitters
Inborn genetic diseases
PDGFRB p.Asn877Lys Likely benign Multiple submitters
Inborn genetic diseases
PDGFRB p.Asp1103Tyr Uncertain significance Multiple submitters
Inborn genetic diseases
PDGFRB p.Glu485Lys Benign/Likely benign Multiple submitters
myeloproliferative disorder, chronic, with eosinophilia
PDGFRB p.Glu767Lys Uncertain significance Multiple submitters
infantile myofibromatosis
PDGFRB p.Glu794Lys Uncertain significance Multiple submitters
basal ganglia calcification, idiopathic, 4
PDGFRB p.Glu959Lys Uncertain significance Multiple submitters
infantile myofibromatosis
PDGFRB p.Gly181Ser Likely benign Multiple submitters
Inborn genetic diseases
PDGFRB p.Ile194Thr Benign/Likely benign Multiple submitters
acroosteolysis-keloid-like lesions-premature aging syndrome
PDGFRB p.Leu24Phe Uncertain significance Multiple submitters
Inborn genetic diseases
PDGFRB p.Leu93Ile Uncertain significance Multiple submitters
acroosteolysis-keloid-like lesions-premature aging syndrome
PDGFRB p.Lys745Asn Uncertain significance Multiple submitters
basal ganglia calcification, idiopathic, 4
PDGFRB p.Ser408Cys Benign/Likely benign Multiple submitters
basal ganglia calcification, idiopathic, 4
PDGFRB p.Ser952Cys Uncertain significance Multiple submitters
PDGFRB-related disorder
PDGFRB p.Ser980Asn Uncertain significance Multiple submitters
skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
PDGFRB p.Thr324Ile Benign/Likely benign Multiple submitters
basal ganglia calcification, idiopathic, 4
PDGFRB p.Thr464Met Benign Multiple submitters
myeloproliferative disorder, chronic, with eosinophilia
PDGFRB p.Thr518Met Benign/Likely benign Multiple submitters
infantile myofibromatosis
PDGFRB p.Thr88Ile Likely benign Multiple submitters
skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
PDGFRB p.Val216Ile Uncertain significance Multiple submitters
skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
PDGFRB p.Val316Met Benign/Likely benign Multiple submitters
myeloproliferative disorder, chronic, with eosinophilia
PDGFRB p.Val372Met Likely benign Multiple submitters
Inborn genetic diseases
PDGFRB p.Val480Met Benign/Likely benign Multiple submitters
basal ganglia calcification, idiopathic, 4
PDGFRB p.Val572Met Uncertain significance Multiple submitters
acroosteolysis-keloid-like lesions-premature aging syndrome
PDGFRB p.Ala281Thr Uncertain significance Single submitter
Inborn genetic diseases
PDGFRB p.Ala619Val Uncertain significance Single submitter
basal ganglia calcification, idiopathic, 4
PDGFRB p.Arg1098Trp Uncertain significance Single submitter
infantile myofibromatosis
PDGFRB p.Arg115Gln Benign Single submitter
acroosteolysis-keloid-like lesions-premature aging syndrome
PDGFRB p.Arg150Gln Uncertain significance Single submitter
basal ganglia calcification, idiopathic, 4
PDGFRB p.Arg177Cys Likely benign Single submitter
skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
PDGFRB p.Arg177Gly Uncertain significance Single submitter
Inborn genetic diseases
PDGFRB p.Arg256Trp Conflicting Single submitter
skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
PDGFRB p.Arg273Cys Likely benign Single submitter
infantile myofibromatosis
PDGFRB p.Arg317Trp Likely benign Single submitter
skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
PDGFRB p.Arg332Trp Uncertain significance Single submitter
infantile myofibromatosis
PDGFRB p.Arg334Trp Uncertain significance Single submitter
PDGFRB p.Arg355Cys Benign Single submitter
acroosteolysis-keloid-like lesions-premature aging syndrome
PDGFRB p.Arg370Cys Benign Single submitter
skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
PDGFRB p.Arg376Trp Uncertain significance Single submitter
PDGFRB p.Arg397Gln Uncertain significance Single submitter
infantile myofibromatosis
PDGFRB p.Arg435His Uncertain significance Single submitter
myofibromatosis, infantile, 1
PDGFRB p.Arg437His Uncertain significance Single submitter
skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
PDGFRB p.Arg511Cys Uncertain significance Single submitter
skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
PDGFRB p.Arg511His Uncertain significance Single submitter
PDGFRB p.Arg64Gln Uncertain significance Single submitter
acroosteolysis-keloid-like lesions-premature aging syndrome
PDGFRB p.Arg64Trp Uncertain significance Single submitter
basal ganglia calcification, idiopathic, 4
PDGFRB p.Arg695Cys Conflicting Single submitter
acroosteolysis-keloid-like lesions-premature aging syndrome
PDGFRB p.Arg695His Likely benign Single submitter
acroosteolysis-keloid-like lesions-premature aging syndrome
PDGFRB p.Arg708Cys Conflicting Single submitter
skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
PDGFRB p.Arg709Cys Uncertain significance Single submitter
Inborn genetic diseases
PDGFRB p.Arg919Trp Likely benign Single submitter
PDGFRB p.Asn512Ser Conflicting Single submitter
skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
PDGFRB p.Asp1020Asn Likely benign Single submitter
skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
PDGFRB p.Asp1027Ala Uncertain significance Single submitter
basal ganglia calcification, idiopathic, 4
PDGFRB p.Asp353His Likely benign Single submitter
infantile myofibromatosis
PDGFRB p.Asp575Gly Uncertain significance Single submitter
PDGFRB p.Asp706Tyr Uncertain significance Single submitter
basal ganglia calcification, idiopathic, 4
PDGFRB p.Asp737Asn Uncertain significance Single submitter
PDGFRB p.Gln516His Uncertain significance Single submitter
skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
PDGFRB p.Gln71Arg Uncertain significance Single submitter
skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
PDGFRB p.Glu1035Lys Uncertain significance Single submitter
Inborn genetic diseases
PDGFRB p.Glu1069Lys Likely benign Single submitter
acroosteolysis-keloid-like lesions-premature aging syndrome
PDGFRB p.Glu1081Lys Uncertain significance Single submitter
parkinsonian disorder
PDGFRB p.Glu162Lys Uncertain significance Single submitter
skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
PDGFRB p.Glu282Lys Conflicting Single submitter
Inborn genetic diseases
PDGFRB p.Glu282Val Uncertain significance Single submitter
PDGFRB p.Glu284Lys Uncertain significance Single submitter
Inborn genetic diseases
PDGFRB p.Glu341Gln Uncertain significance Single submitter
acroosteolysis-keloid-like lesions-premature aging syndrome
PDGFRB p.Glu374Asp Uncertain significance Single submitter
PDGFRB p.Glu41Lys Uncertain significance Single submitter
Inborn genetic diseases
PDGFRB p.Glu460Lys Uncertain significance Single submitter
skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
PDGFRB p.Glu471Lys Uncertain significance Single submitter
PDGFRB-related disorder
PDGFRB p.Glu484Lys Conflicting Single submitter
acroosteolysis-keloid-like lesions-premature aging syndrome
PDGFRB p.Glu906Gln Uncertain significance Single submitter
Inborn genetic diseases
PDGFRB p.Glu911Lys Uncertain significance Single submitter
Inborn genetic diseases
PDGFRB p.Glu932Gln Uncertain significance Single submitter
PDGFRB p.Glu932Lys Uncertain significance Single submitter
skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
PDGFRB p.Glu964Lys Likely benign Single submitter
acroosteolysis-keloid-like lesions-premature aging syndrome
PDGFRB p.Gly126Asp Likely benign Single submitter
acroosteolysis-keloid-like lesions-premature aging syndrome
PDGFRB p.Gly181Ala Conflicting Single submitter
acroosteolysis-keloid-like lesions-premature aging syndrome
PDGFRB p.Gly228Asp Likely benign Single submitter
PDGFRB p.Gly239Arg Uncertain significance Single submitter
myofibromatosis, infantile, 1
PDGFRB p.Gly320Arg Uncertain significance Single submitter
Inborn genetic diseases
PDGFRB p.Gly805Val Uncertain significance Single submitter
skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
PDGFRB p.His499Tyr Uncertain significance Single submitter
skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
PDGFRB p.His624Tyr Uncertain significance Single submitter
basal ganglia calcification, idiopathic, 4
PDGFRB p.Ile1023Ser Uncertain significance Single submitter
PDGFRB p.Ile896Met Uncertain significance Single submitter
Inborn genetic diseases
PDGFRB p.Leu156Arg Uncertain significance Single submitter
PDGFRB p.Leu3Phe Uncertain significance Single submitter
Inborn genetic diseases
PDGFRB p.Leu44Phe Uncertain significance Single submitter
PDGFRB p.Leu454Phe Conflicting Single submitter
Inborn genetic diseases
PDGFRB p.Leu476Arg Uncertain significance Single submitter
PDGFRB p.Leu539Pro Uncertain significance Single submitter
PDGFRB p.Leu552Phe Uncertain significance Single submitter
skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
PDGFRB p.Leu668Met Uncertain significance Single submitter
PDGFRB p.Leu732Trp Uncertain significance Single submitter
myofibromatosis, infantile, 1
PDGFRB p.Leu958Val Likely benign Single submitter
skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
PDGFRB p.Lys114Asn Conflicting Single submitter
infantile myofibromatosis
PDGFRB p.Lys387Asn Uncertain significance Single submitter
PDGFRB p.Lys707Glu Uncertain significance Single submitter
PDGFRB p.Lys868Arg Uncertain significance Single submitter
PDGFRB p.Met629Arg Uncertain significance Single submitter
PDGFRB p.Met649Ile Uncertain significance Single submitter
PDGFRB p.Met649Val Uncertain significance Single submitter
PDGFRB p.Phe340Leu Uncertain significance Single submitter
PDGFRB p.Phe81Ile Uncertain significance Single submitter
PDGFRB p.Pro1026Ser Uncertain significance Single submitter
PDGFRB p.Pro1066Thr Uncertain significance Single submitter
PDGFRB p.Pro1084Ala Uncertain significance Single submitter
Inborn genetic diseases
PDGFRB p.Pro260Leu Likely benign Single submitter
acroosteolysis-keloid-like lesions-premature aging syndrome
PDGFRB p.Pro37Ala Uncertain significance Single submitter
PDGFRB p.Pro38Leu Uncertain significance Single submitter
Inborn genetic diseases
PDGFRB p.Pro596Leu Likely benign Single submitter
PDGFRB p.Pro59Arg Uncertain significance Single submitter
basal ganglia calcification, idiopathic, 4
PDGFRB p.Pro59Leu Conflicting Single submitter
acroosteolysis-keloid-like lesions-premature aging syndrome
PDGFRB p.Ser1006Phe Uncertain significance Single submitter
Inborn genetic diseases
PDGFRB p.Ser1059Phe Uncertain significance Single submitter
PDGFRB p.Ser105Phe Uncertain significance Single submitter
Inborn genetic diseases
PDGFRB p.Ser373Leu Conflicting Single submitter
basal ganglia calcification, idiopathic, 4
PDGFRB p.Ser408Tyr Uncertain significance Single submitter
PDGFRB p.Ser425Asn Uncertain significance Single submitter
myofibromatosis, infantile, 1
PDGFRB p.Ser425Cys Uncertain significance Single submitter
acroosteolysis-keloid-like lesions-premature aging syndrome
PDGFRB p.Ser449Phe Uncertain significance Single submitter
skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
PDGFRB p.Ser55Leu Conflicting Single submitter
Inborn genetic diseases
PDGFRB p.Ser591Phe Uncertain significance Single submitter
PDGFRB p.Ser731Ala Uncertain significance Single submitter
skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
PDGFRB p.Ser748Leu Conflicting Single submitter
skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
PDGFRB p.Ser795Phe Uncertain significance Single submitter
PDGFRB p.Thr140Met Conflicting Single submitter
myofibromatosis, infantile, 1
PDGFRB p.Thr159Lys Uncertain significance Single submitter
Inborn genetic diseases
PDGFRB p.Thr192Ile Uncertain significance Single submitter
acroosteolysis-keloid-like lesions-premature aging syndrome
PDGFRB p.Thr288Ala Uncertain significance Single submitter
Inborn genetic diseases
PDGFRB p.Thr290Ile Conflicting Single submitter
Inborn genetic diseases
PDGFRB p.Thr294Ala Uncertain significance Single submitter
Inborn genetic diseases
PDGFRB p.Thr294Met Uncertain significance Single submitter
Inborn genetic diseases
PDGFRB p.Thr382Ile Uncertain significance Single submitter
PDGFRB p.Thr478Ile Uncertain significance Single submitter
Inborn genetic diseases
PDGFRB p.Thr481Met Likely benign Single submitter
acroosteolysis-keloid-like lesions-premature aging syndrome
PDGFRB p.Thr509Met Conflicting Single submitter
skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
PDGFRB p.Thr618Met Uncertain significance Single submitter
skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
PDGFRB p.Thr628Met Likely benign Single submitter
acroosteolysis-keloid-like lesions-premature aging syndrome

All PDGFRB variants

Pathogenic 18

p.Arg561Cys Multiple submitters infantile myofibromatosis ⚠
p.Pro584Arg Multiple submitters myeloproliferative disorder, chronic, with eosinophilia
p.Trp566Arg Multiple submitters acroosteolysis-keloid-like lesions-premature aging syndrome
p.Ala828Glu Single submitter infantile myofibromatosis
p.Arg561_Tyr562delinsHis Single submitter infantile myofibromatosis
p.Asp826Tyr Single submitter
p.Asp850Tyr Single submitter myofibromatosis, infantile, 1
p.Asp850Val Single submitter infantile myofibromatosis
p.Ile538Asn Single submitter infantile myofibromatosis
p.Tyr562Asp Single submitter infantile myofibromatosis
p.Val506_Arg507insLeuLeuSerVal Single submitter infantile myofibromatosis
p.Val572_Ser573insGluLeuIleArgTrpLysValIleGluSerVal Single submitter infantile myofibromatosis
p.Arg849_Asp850delinsHis No assertion criteria myofibromatosis, infantile, 1
p.Ile538_Leu539insArg No assertion criteria infantile myofibromatosis
p.Leu658Pro No assertion criteria basal ganglia calcification, idiopathic, 4
p.Lys567Glu No assertion criteria myofibromatosis, infantile, 1
p.Trp566_Val568delinsLeu No assertion criteria infantile myofibromatosis
p.Val665Ala No assertion criteria acroosteolysis-keloid-like lesions-premature aging syndrome

Pathogenic/Likely pathogenic 4

p.Asn666His Multiple submitters Inborn genetic diseases
p.Asn666Lys Multiple submitters infantile myofibromatosis
p.Asn666Ser Multiple submitters myeloproliferative disorder, chronic, with eosinophilia
p.Pro560Leu Multiple submitters acroosteolysis-keloid-like lesions-premature aging syndrome

Likely pathogenic 5

p.Ala342Val Single submitter skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
p.Asn856Ile Single submitter skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
p.Asn856Tyr Single submitter
p.Met1Val Single submitter skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
p.Tyr562Asn Single submitter myofibromatosis, infantile, 1

Conflicting classifications of pathogenicity 42

c.2905-8G>A Single submitter acroosteolysis-keloid-like lesions-premature aging syndrome
p.Ala537Asp Single submitter acroosteolysis-keloid-like lesions-premature aging syndrome ⚠
p.Arg113Gln Single submitter acroosteolysis-keloid-like lesions-premature aging syndrome ⚠
p.Arg256Trp Single submitter skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome ⚠
p.Arg2Gln Single submitter basal ganglia calcification, idiopathic, 4 ⚠
p.Arg496His Single submitter PDGFRB-related disorder ⚠
p.Arg695Cys Single submitter acroosteolysis-keloid-like lesions-premature aging syndrome ⚠
p.Arg708Cys Single submitter skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome ⚠
p.Arg709His Single submitter basal ganglia calcification, idiopathic, 4 ⚠
p.Arg991Cys Single submitter Inborn genetic diseases ⚠
p.Asn512Ser Single submitter skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome ⚠
p.Asp1061Asn Single submitter acroosteolysis-keloid-like lesions-premature aging syndrome ⚠
p.Asp931Asn Single submitter acroosteolysis-keloid-like lesions-premature aging syndrome ⚠
p.Cys822= Single submitter acroosteolysis-keloid-like lesions-premature aging syndrome
p.Gln406Arg Single submitter Inborn genetic diseases ⚠
p.Glu282Lys Single submitter Inborn genetic diseases ⚠
p.Glu484Lys Single submitter acroosteolysis-keloid-like lesions-premature aging syndrome ⚠
p.Gly181Ala Single submitter acroosteolysis-keloid-like lesions-premature aging syndrome ⚠
p.Gly467Arg Single submitter Inborn genetic diseases ⚠
p.Ile546Val Single submitter skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome ⚠
p.Leu454Phe Single submitter Inborn genetic diseases ⚠
p.Leu879Ile Single submitter skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome ⚠
p.Lys114Asn Single submitter infantile myofibromatosis ⚠
p.Pro4Gln Single submitter skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome ⚠
p.Pro59Leu Single submitter acroosteolysis-keloid-like lesions-premature aging syndrome ⚠
p.Ser1092Leu Single submitter Inborn genetic diseases ⚠
p.Ser313Asn Single submitter Inborn genetic diseases ⚠
p.Ser373Leu Single submitter basal ganglia calcification, idiopathic, 4 ⚠
p.Ser55Leu Single submitter Inborn genetic diseases ⚠
p.Ser748Leu Single submitter skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome ⚠
p.Thr124Ala Single submitter acroosteolysis-keloid-like lesions-premature aging syndrome ⚠
p.Thr140Met Single submitter myofibromatosis, infantile, 1 ⚠
p.Thr290Ile Single submitter Inborn genetic diseases ⚠
p.Thr369Met Single submitter acroosteolysis-keloid-like lesions-premature aging syndrome ⚠
p.Thr509Met Single submitter skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome ⚠
p.Thr863Asn Single submitter infantile myofibromatosis ⚠
p.Thr902Ile Single submitter acroosteolysis-keloid-like lesions-premature aging syndrome ⚠
p.Tyr1009Cys Single submitter skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome ⚠
p.Tyr589Cys Single submitter skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome ⚠
p.Val125Met Single submitter Inborn genetic diseases ⚠
p.Val722Ile Single submitter skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome ⚠
p.Val761Ile Single submitter Inborn genetic diseases ⚠

Benign 118

c.3137+4A>G Multiple submitters basal ganglia calcification, idiopathic, 4
c.364+44C>T Multiple submitters acroosteolysis-keloid-like lesions-premature aging syndrome
c.365-4G>T Multiple submitters myeloproliferative disorder, chronic, with eosinophilia
p.Arg197Lys Multiple submitters skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
p.Arg459His Multiple submitters acroosteolysis-keloid-like lesions-premature aging syndrome
p.Asn821= Multiple submitters acroosteolysis-keloid-like lesions-premature aging syndrome
p.Ile29Phe Multiple submitters basal ganglia calcification, idiopathic, 4
p.Leu465= Multiple submitters acroosteolysis-keloid-like lesions-premature aging syndrome
p.Leu867= Multiple submitters basal ganglia calcification, idiopathic, 4
p.Pro1030= Multiple submitters basal ganglia calcification, idiopathic, 4
p.Pro1084= Multiple submitters basal ganglia calcification, idiopathic, 4
p.Pro4= Multiple submitters skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
p.Pro4Leu Multiple submitters basal ganglia calcification, idiopathic, 4
p.Ser361= Multiple submitters acroosteolysis-keloid-like lesions-premature aging syndrome
p.Thr464Met Multiple submitters myeloproliferative disorder, chronic, with eosinophilia ⚠
p.Thr618= Multiple submitters myeloproliferative disorder, chronic, with eosinophilia
p.Tyr315= Multiple submitters acroosteolysis-keloid-like lesions-premature aging syndrome
p.Val34= Multiple submitters myeloproliferative disorder, chronic, with eosinophilia
c.1127+271C>T Single submitter
c.1127+7A>G Single submitter acroosteolysis-keloid-like lesions-premature aging syndrome
c.1243+4A>T Single submitter basal ganglia calcification, idiopathic, 4
c.1367+209G>T Single submitter
c.1368-14G>A Single submitter basal ganglia calcification, idiopathic, 4
c.1368-15C>T Single submitter skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
c.1368-189A>G Single submitter
c.1579+10C>T Single submitter basal ganglia calcification, idiopathic, 4
c.1579+209G>A Single submitter
c.1579+30G>T Single submitter
c.1579+50T>C Single submitter
c.1675-166C>T Single submitter
c.1675-187T>C Single submitter
c.1807+186A>G Single submitter
c.1808-217A>C Single submitter
c.1912+132A>G Single submitter
c.1912+175T>A Single submitter
c.1913-16C>G Single submitter acroosteolysis-keloid-like lesions-premature aging syndrome
c.2023+143C>T Single submitter
c.2024-295G>A Single submitter
c.2184-148T>G Single submitter
c.2184-200G>A Single submitter
c.2184-89_2184-86del Single submitter
c.2344+121T>C Single submitter
c.2464-19C>G Single submitter acroosteolysis-keloid-like lesions-premature aging syndrome
c.2586+215G>A Single submitter
c.2587-110C>T Single submitter
c.2587-5T>C Single submitter skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
c.2798+158del Single submitter
c.2798+209G>A Single submitter
c.2798+271T>A Single submitter
c.2799-83dup Single submitter
c.2904+159C>T Single submitter
c.2904+15G>A Single submitter skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
c.2904+246G>C Single submitter
c.2905-259G>A Single submitter
c.3137+226G>A Single submitter
c.3137+40TG[15] Single submitter
c.3137+40TG[18] Single submitter
c.3137+48T>C Single submitter
c.3137+64_3137+79del Single submitter
c.3137+68_3137+77del Single submitter
c.3137+68_3137+81del Single submitter
c.3137+68T>C Single submitter
c.3137+70_3137+77del Single submitter
c.3137+70_3137+81del Single submitter
c.3137+71_3137+72insGC Single submitter
c.3137+73GC[10] Single submitter
c.3137+74C>T Single submitter
c.3137+75_3137+76insGT Single submitter
c.3137+81G>C Single submitter
c.3137+87G>A Single submitter
c.3138-261C>T Single submitter
c.3138-28C>T Single submitter
c.3138-97C>T Single submitter
c.364+160A>C Single submitter
c.40+214C>T Single submitter
c.40+91G>A Single submitter
c.632-55A>C Single submitter
c.759+41A>G Single submitter
c.934+77T>C Single submitter
c.935-101C>T Single submitter
c.935-173A>G Single submitter
c.935-276C>T Single submitter
c.-6-107G>T Single submitter
c.-6-158C>T Single submitter
c.*39C>A Single submitter
c.*39C>G Single submitter
c.*73A>G Single submitter
p.Ala1096= Single submitter skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
p.Ala281= Single submitter basal ganglia calcification, idiopathic, 4
p.Ala513= Single submitter skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
p.Ala632= Single submitter acroosteolysis-keloid-like lesions-premature aging syndrome
p.Arg115Gln Single submitter acroosteolysis-keloid-like lesions-premature aging syndrome ⚠
p.Arg317= Single submitter basal ganglia calcification, idiopathic, 4
p.Arg355Cys Single submitter acroosteolysis-keloid-like lesions-premature aging syndrome ⚠
p.Arg370Cys Single submitter skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome ⚠
p.Arg385= Single submitter skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
p.Arg685Cys Single submitter acroosteolysis-keloid-like lesions-premature aging syndrome
p.Asn215= Single submitter skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
p.Asn663= Single submitter acroosteolysis-keloid-like lesions-premature aging syndrome
p.Asp1034= Single submitter acroosteolysis-keloid-like lesions-premature aging syndrome
p.Asp760= Single submitter acroosteolysis-keloid-like lesions-premature aging syndrome
p.Gln646= Single submitter acroosteolysis-keloid-like lesions-premature aging syndrome
p.Glu112Lys Single submitter acroosteolysis-keloid-like lesions-premature aging syndrome
p.Glu162= Single submitter acroosteolysis-keloid-like lesions-premature aging syndrome
p.Gly738Ser Single submitter skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
p.Gly759Glu Single submitter acroosteolysis-keloid-like lesions-premature aging syndrome
p.His624= Single submitter skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
p.Ile365= Single submitter basal ganglia calcification, idiopathic, 4
p.Ile834= Single submitter basal ganglia calcification, idiopathic, 4
p.Leu90= Single submitter acroosteolysis-keloid-like lesions-premature aging syndrome
p.Pro260= Single submitter basal ganglia calcification, idiopathic, 4
p.Pro872= Single submitter skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
p.Ser1006= Single submitter basal ganglia calcification, idiopathic, 4
p.Ser1092= Single submitter skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
p.Ser373= Single submitter skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
p.Thr1010= Single submitter infantile myofibromatosis
p.Val722Phe Single submitter skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome ⚠
p.Val84Met Single submitter skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome

Benign/Likely benign 25

p.Ala1096Val Multiple submitters acroosteolysis-keloid-like lesions-premature aging syndrome
p.Arg502Gln Multiple submitters skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
p.Arg507His Multiple submitters infantile myofibromatosis ⚠
p.Arg948= Multiple submitters acroosteolysis-keloid-like lesions-premature aging syndrome
p.Arg987Gln Multiple submitters infantile myofibromatosis
p.Arg991His Multiple submitters infantile myofibromatosis
p.Asn479= Multiple submitters basal ganglia calcification, idiopathic, 4
p.Glu485Lys Multiple submitters myeloproliferative disorder, chronic, with eosinophilia ⚠
p.Gly1040Val Multiple submitters myeloproliferative disorder, chronic, with eosinophilia
p.Gly363= Multiple submitters infantile myofibromatosis
p.Gly963= Multiple submitters acroosteolysis-keloid-like lesions-premature aging syndrome
p.Ile194Thr Multiple submitters acroosteolysis-keloid-like lesions-premature aging syndrome ⚠
p.Ile238= Multiple submitters acroosteolysis-keloid-like lesions-premature aging syndrome
p.Leu383= Multiple submitters skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
p.Leu587= Multiple submitters acroosteolysis-keloid-like lesions-premature aging syndrome
p.Lys841= Multiple submitters myeloproliferative disorder, chronic, with eosinophilia
p.Pro1090= Multiple submitters acroosteolysis-keloid-like lesions-premature aging syndrome
p.Pro345Ser Multiple submitters skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
p.Pro427Ser Multiple submitters acroosteolysis-keloid-like lesions-premature aging syndrome
p.Pro710Leu Multiple submitters Inborn genetic diseases
p.Ser408Cys Multiple submitters basal ganglia calcification, idiopathic, 4 ⚠
p.Thr324Ile Multiple submitters basal ganglia calcification, idiopathic, 4 ⚠
p.Thr518Met Multiple submitters infantile myofibromatosis ⚠
p.Val316Met Multiple submitters myeloproliferative disorder, chronic, with eosinophilia ⚠
p.Val480Met Multiple submitters basal ganglia calcification, idiopathic, 4 ⚠

Likely benign 276

c.1367+56G>T Multiple submitters
c.1580-45T>C Multiple submitters
c.1912+32G>A Multiple submitters
c.1912+48G>T Multiple submitters
c.1912+85T>C Multiple submitters
c.2024-74C>G Multiple submitters
c.2183+122G>T Multiple submitters
c.3137+76C>T Multiple submitters
c.3137+80C>T Multiple submitters
c.364+15C>G Multiple submitters basal ganglia calcification, idiopathic, 4
c.934+132C>T Multiple submitters
p.Ala1099= Multiple submitters acroosteolysis-keloid-like lesions-premature aging syndrome
p.Ala6Val Multiple submitters acroosteolysis-keloid-like lesions-premature aging syndrome
p.Ala828= Multiple submitters skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
p.Arg208Ser Multiple submitters skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
p.Arg2Trp Multiple submitters skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome ⚠
p.Arg334Gln Multiple submitters basal ganglia calcification, idiopathic, 4
p.Arg397Trp Multiple submitters Inborn genetic diseases ⚠
p.Arg502Trp Multiple submitters acroosteolysis-keloid-like lesions-premature aging syndrome
p.Arg708His Multiple submitters acroosteolysis-keloid-like lesions-premature aging syndrome
p.Asn512= Multiple submitters acroosteolysis-keloid-like lesions-premature aging syndrome
p.Asn877Lys Multiple submitters Inborn genetic diseases ⚠
p.Asp1068= Multiple submitters acroosteolysis-keloid-like lesions-premature aging syndrome
p.Asp756= Multiple submitters acroosteolysis-keloid-like lesions-premature aging syndrome
p.Asp885= Multiple submitters basal ganglia calcification, idiopathic, 4
p.Gly181Ser Multiple submitters Inborn genetic diseases ⚠
p.Phe889= Multiple submitters skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
p.Pro444= Multiple submitters skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
p.Pro462Leu Multiple submitters skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
p.Ser47= Multiple submitters
p.Ser650= Multiple submitters skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
p.Ser736= Multiple submitters acroosteolysis-keloid-like lesions-premature aging syndrome
p.Thr88Ile Multiple submitters skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome ⚠
p.Tyr562= Multiple submitters
p.Tyr686= Multiple submitters basal ganglia calcification, idiopathic, 4
p.Val372Met Multiple submitters Inborn genetic diseases ⚠
p.Val523Met Multiple submitters basal ganglia calcification, idiopathic, 4
p.Val973= Multiple submitters basal ganglia calcification, idiopathic, 4
c.1127+17C>G Single submitter basal ganglia calcification, idiopathic, 4
c.1127+24C>A Single submitter
c.1127+34G>T Single submitter
c.1243+11C>T Single submitter skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
c.1243+12G>A Single submitter infantile myofibromatosis
c.1243+18C>T Single submitter acroosteolysis-keloid-like lesions-premature aging syndrome
c.1244-12_1244-10dup Single submitter
c.1244-4G>A Single submitter acroosteolysis-keloid-like lesions-premature aging syndrome
c.1244-5T>C Single submitter basal ganglia calcification, idiopathic, 4
c.1367+20A>G Single submitter skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
c.1579+122G>A Single submitter
c.1579+230C>T Single submitter
c.1580-8G>A Single submitter acroosteolysis-keloid-like lesions-premature aging syndrome
c.1674+9C>G Single submitter basal ganglia calcification, idiopathic, 4
c.1675-14G>T Single submitter acroosteolysis-keloid-like lesions-premature aging syndrome
c.1675-17T>G Single submitter acroosteolysis-keloid-like lesions-premature aging syndrome
c.1675-293G>A Single submitter
c.1675-4C>T Single submitter skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
c.1808-177C>T Single submitter
c.1808-48del Single submitter
c.1808-6C>T Single submitter
c.1913-10T>A Single submitter acroosteolysis-keloid-like lesions-premature aging syndrome
c.2023+16C>T Single submitter acroosteolysis-keloid-like lesions-premature aging syndrome
c.2024-18_2024-7dup Single submitter skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
c.2183+18A>G Single submitter basal ganglia calcification, idiopathic, 4
c.2183+19G>A Single submitter basal ganglia calcification, idiopathic, 4
c.2184-7C>T Single submitter skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
c.2345-112C>T Single submitter
c.2345-18C>T Single submitter skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
c.2464-12C>T Single submitter skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
c.2586+13C>T Single submitter acroosteolysis-keloid-like lesions-premature aging syndrome
c.2586+20C>A Single submitter acroosteolysis-keloid-like lesions-premature aging syndrome
c.2586+20C>G Single submitter acroosteolysis-keloid-like lesions-premature aging syndrome
c.2586+28G>A Single submitter
c.2587-297G>C Single submitter
c.2699-18G>T Single submitter basal ganglia calcification, idiopathic, 4
c.2798+10G>A Single submitter skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
c.2798+196G>A Single submitter
c.2798+19A>G Single submitter skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
c.2799-12C>T Single submitter skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
c.2904+17T>A Single submitter skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
c.2904+75C>T Single submitter
c.2904+87G>A Single submitter
c.2905-19C>G Single submitter basal ganglia calcification, idiopathic, 4
c.2905-8G>C Single submitter acroosteolysis-keloid-like lesions-premature aging syndrome
c.3137+13G>T Single submitter acroosteolysis-keloid-like lesions-premature aging syndrome
c.3137+15C>T Single submitter skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
c.3137+40TG[19] Single submitter
c.3137+70_3137+83del Single submitter
c.3137+72_3137+77del Single submitter
c.3137+72_3137+81del Single submitter
c.3137+73GC[5] Single submitter
c.3137+73GC[8] Single submitter
c.3137+81G>A Single submitter
c.3137+86C>T Single submitter
c.3137+8C>A Single submitter basal ganglia calcification, idiopathic, 4
c.3138-115C>T Single submitter
c.3138-11C>G Single submitter basal ganglia calcification, idiopathic, 4
c.3138-60T>C Single submitter
c.3138-91A>G Single submitter
c.364+16C>G Single submitter infantile myofibromatosis
c.365-120T>C Single submitter
c.365-13C>T Single submitter infantile myofibromatosis
c.365-18C>T Single submitter skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
c.365-5G>C Single submitter acroosteolysis-keloid-like lesions-premature aging syndrome
c.40+16A>G Single submitter skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
c.40+19_40+23del Single submitter basal ganglia calcification, idiopathic, 4
c.40+194T>G Single submitter
c.631+9C>T Single submitter skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
c.632-11C>T Single submitter acroosteolysis-keloid-like lesions-premature aging syndrome
c.759+11G>A Single submitter skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
c.760-10G>T Single submitter acroosteolysis-keloid-like lesions-premature aging syndrome
c.934+17C>T Single submitter basal ganglia calcification, idiopathic, 4
c.934+276_934+279del Single submitter
c.935-106T>C Single submitter
c.935-131A>C Single submitter
c.935-15G>A Single submitter acroosteolysis-keloid-like lesions-premature aging syndrome
c.935-16C>T Single submitter skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
c.935-5T>C Single submitter skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
c.935-9C>T Single submitter basal ganglia calcification, idiopathic, 4
c.*40del Single submitter
p.Ala1011= Single submitter basal ganglia calcification, idiopathic, 4
p.Ala1099Val Single submitter acroosteolysis-keloid-like lesions-premature aging syndrome
p.Ala132= Single submitter basal ganglia calcification, idiopathic, 4
p.Ala6= Single submitter basal ganglia calcification, idiopathic, 4
p.Ala773= Single submitter basal ganglia calcification, idiopathic, 4
p.Ala789Ser Single submitter skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
p.Ala990= Single submitter skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
p.Arg177Cys Single submitter skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome ⚠
p.Arg273Cys Single submitter infantile myofibromatosis ⚠
p.Arg317Trp Single submitter skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome ⚠
p.Arg418Gln Single submitter skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
p.Arg685= Single submitter
p.Arg695His Single submitter acroosteolysis-keloid-like lesions-premature aging syndrome ⚠
p.Arg853= Single submitter acroosteolysis-keloid-like lesions-premature aging syndrome
p.Arg919Gln Single submitter skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
p.Arg919Trp Single submitter ⚠
p.Arg999= Single submitter basal ganglia calcification, idiopathic, 4
p.Asn1019= Single submitter acroosteolysis-keloid-like lesions-premature aging syndrome
p.Asn130= Single submitter skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
p.Asn219= Single submitter skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
p.Asn307= Single submitter infantile myofibromatosis
p.Asn371= Single submitter basal ganglia calcification, idiopathic, 4
p.Asn89= Single submitter acroosteolysis-keloid-like lesions-premature aging syndrome
p.Asn910= Single submitter skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
p.Asp1018= Single submitter skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
p.Asp1020Asn Single submitter skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome ⚠
p.Asp104= Single submitter infantile myofibromatosis
p.Asp1068Glu Single submitter
p.Asp111Asn Single submitter infantile myofibromatosis
p.Asp166= Single submitter basal ganglia calcification, idiopathic, 4
p.Asp353His Single submitter infantile myofibromatosis ⚠
p.Asp746= Single submitter basal ganglia calcification, idiopathic, 4
p.Asp776Asn Single submitter acroosteolysis-keloid-like lesions-premature aging syndrome
p.Gln498= Single submitter basal ganglia calcification, idiopathic, 4
p.Glu1069Lys Single submitter acroosteolysis-keloid-like lesions-premature aging syndrome ⚠
p.Glu1102= Single submitter
p.Glu312= Single submitter
p.Glu321= Single submitter basal ganglia calcification, idiopathic, 4
p.Glu578= Single submitter acroosteolysis-keloid-like lesions-premature aging syndrome
p.Glu964Lys Single submitter acroosteolysis-keloid-like lesions-premature aging syndrome ⚠
p.Glu975= Single submitter acroosteolysis-keloid-like lesions-premature aging syndrome
p.Gly1093= Single submitter skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
p.Gly126Asp Single submitter acroosteolysis-keloid-like lesions-premature aging syndrome ⚠
p.Gly14= Single submitter skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
p.Gly228Asp Single submitter ⚠
p.Gly323Asp Single submitter skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
p.Gly392= Single submitter skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
p.Gly438= Single submitter basal ganglia calcification, idiopathic, 4
p.Gly56= Single submitter skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
p.Gly723= Single submitter infantile myofibromatosis
p.Gly734Arg Single submitter acroosteolysis-keloid-like lesions-premature aging syndrome
p.His161= Single submitter basal ganglia calcification, idiopathic, 4
p.His499= Single submitter skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
p.His657= Single submitter acroosteolysis-keloid-like lesions-premature aging syndrome
p.Ile1023= Single submitter skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
p.Ile308= Single submitter skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
p.Ile447Val Single submitter
p.Ile522= Single submitter acroosteolysis-keloid-like lesions-premature aging syndrome
p.Ile766= Single submitter acroosteolysis-keloid-like lesions-premature aging syndrome
p.Leu1049= Single submitter acroosteolysis-keloid-like lesions-premature aging syndrome
p.Leu1106= Single submitter
p.Leu156= Single submitter acroosteolysis-keloid-like lesions-premature aging syndrome
p.Leu16= Single submitter skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
p.Leu336= Single submitter basal ganglia calcification, idiopathic, 4
p.Leu476Met Single submitter infantile myofibromatosis
p.Leu555Val Single submitter infantile myofibromatosis
p.Leu606= Single submitter basal ganglia calcification, idiopathic, 4
p.Leu724= Single submitter
p.Leu798= Single submitter basal ganglia calcification, idiopathic, 4
p.Leu803= Single submitter infantile myofibromatosis
p.Leu817= Single submitter
p.Leu833= Single submitter acroosteolysis-keloid-like lesions-premature aging syndrome
p.Leu87= Single submitter infantile myofibromatosis
p.Leu958= Single submitter acroosteolysis-keloid-like lesions-premature aging syndrome
p.Leu958Val Single submitter skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome ⚠
p.Leu962= Single submitter acroosteolysis-keloid-like lesions-premature aging syndrome
p.Leu992= Single submitter acroosteolysis-keloid-like lesions-premature aging syndrome
p.Lys653Arg Single submitter skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
p.Lys697= Single submitter skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
p.Lys75= Single submitter basal ganglia calcification, idiopathic, 4
p.Met234Val Single submitter infantile myofibromatosis
p.Phe245= Single submitter skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
p.Pro1042= Single submitter skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
p.Pro1063Thr Single submitter basal ganglia calcification, idiopathic, 4
p.Pro154= Single submitter skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
p.Pro260Leu Single submitter acroosteolysis-keloid-like lesions-premature aging syndrome ⚠
p.Pro344= Single submitter acroosteolysis-keloid-like lesions-premature aging syndrome
p.Pro345= Single submitter
p.Pro59= Single submitter acroosteolysis-keloid-like lesions-premature aging syndrome
p.Pro596= Single submitter acroosteolysis-keloid-like lesions-premature aging syndrome
p.Pro596Leu Single submitter ⚠
p.Pro710= Single submitter basal ganglia calcification, idiopathic, 4
p.Pro721= Single submitter acroosteolysis-keloid-like lesions-premature aging syndrome
p.Ser1046= Single submitter
p.Ser1055= Single submitter acroosteolysis-keloid-like lesions-premature aging syndrome
p.Ser286= Single submitter basal ganglia calcification, idiopathic, 4
p.Ser705= Single submitter acroosteolysis-keloid-like lesions-premature aging syndrome
p.Ser712= Single submitter
p.Ser855= Single submitter Inborn genetic diseases
p.Thr110= Single submitter infantile myofibromatosis
p.Thr146= Single submitter infantile myofibromatosis
p.Thr152= Single submitter acroosteolysis-keloid-like lesions-premature aging syndrome
p.Thr192= Single submitter infantile myofibromatosis
p.Thr192Ser Single submitter skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
p.Thr294= Single submitter basal ganglia calcification, idiopathic, 4
p.Thr309= Single submitter infantile myofibromatosis
p.Thr324= Single submitter acroosteolysis-keloid-like lesions-premature aging syndrome
p.Thr369= Single submitter
p.Thr481Met Single submitter acroosteolysis-keloid-like lesions-premature aging syndrome ⚠
p.Thr509= Single submitter acroosteolysis-keloid-like lesions-premature aging syndrome
p.Thr518= Single submitter acroosteolysis-keloid-like lesions-premature aging syndrome
p.Thr592= Single submitter acroosteolysis-keloid-like lesions-premature aging syndrome
p.Thr628= Single submitter skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
p.Thr628Met Single submitter acroosteolysis-keloid-like lesions-premature aging syndrome ⚠
p.Thr733= Single submitter infantile myofibromatosis
p.Thr80= Single submitter
p.Thr881= Single submitter infantile myofibromatosis
p.Thr902Asn Single submitter Inborn genetic diseases
p.Thr95= Single submitter skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
p.Tyr117= Single submitter acroosteolysis-keloid-like lesions-premature aging syndrome
p.Tyr205= Single submitter basal ganglia calcification, idiopathic, 4
p.Tyr716= Single submitter
p.Tyr775= Single submitter
p.Tyr778= Single submitter skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
p.Tyr880= Single submitter skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
p.Val120= Single submitter acroosteolysis-keloid-like lesions-premature aging syndrome
p.Val125Leu Single submitter
p.Val167Ile Single submitter skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
p.Val216Leu Single submitter infantile myofibromatosis ⚠
p.Val242= Single submitter basal ganglia calcification, idiopathic, 4
p.Val243= Single submitter basal ganglia calcification, idiopathic, 4
p.Val261= Single submitter basal ganglia calcification, idiopathic, 4
p.Val35Ile Single submitter Inborn genetic diseases
p.Val434= Single submitter basal ganglia calcification, idiopathic, 4
p.Val43Ala Single submitter Inborn genetic diseases ⚠
p.Val46Ile Single submitter Inborn genetic diseases ⚠
p.Val480= Single submitter basal ganglia calcification, idiopathic, 4
p.Val491Ala Single submitter acroosteolysis-keloid-like lesions-premature aging syndrome
p.Val521= Single submitter acroosteolysis-keloid-like lesions-premature aging syndrome
p.Val532= Single submitter basal ganglia calcification, idiopathic, 4
p.Val543= Single submitter basal ganglia calcification, idiopathic, 4
p.Val614= Single submitter skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
p.Val690= Single submitter acroosteolysis-keloid-like lesions-premature aging syndrome
p.Val823Ile Single submitter skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
p.Val840= Single submitter
c.1368-10C>T No assertion criteria PDGFRB-related disorder
c.1913-10T>C No assertion criteria PDGFRB-related disorder
c.3137+10C>T No assertion criteria PDGFRB-related disorder
p.Asn793= No assertion criteria PDGFRB-related disorder
p.Asn831= No assertion criteria PDGFRB-related disorder
p.Gln1013= No assertion criteria PDGFRB-related disorder
p.His300Arg No assertion criteria
p.Leu17= No assertion criteria PDGFRB-related disorder
p.Leu85= No assertion criteria
p.Pro1082= No assertion criteria PDGFRB-related disorder
p.Pro37= No assertion criteria PDGFRB-related disorder
p.Val84= No assertion criteria PDGFRB-related disorder

Uncertain significance 315

Showing the top 300 by review status; the full set is in the sitemap.

p.Ala513Thr Multiple submitters acroosteolysis-keloid-like lesions-premature aging syndrome ⚠
p.Ala828Val Multiple submitters acroosteolysis-keloid-like lesions-premature aging syndrome ⚠
p.Arg113Trp Multiple submitters basal ganglia calcification, idiopathic, 4 ⚠
p.Arg177His Multiple submitters myofibromatosis, infantile, 1 ⚠
p.Arg355His Multiple submitters infantile myofibromatosis ⚠
p.Arg370His Multiple submitters acroosteolysis-keloid-like lesions-premature aging syndrome ⚠
p.Arg604Cys Multiple submitters PDGFRB-related disorder ⚠
p.Arg788Ter Multiple submitters Inborn genetic diseases
p.Arg987Trp Multiple submitters basal ganglia calcification, idiopathic, 4 ⚠
p.Asn1053Thr Multiple submitters basal ganglia calcification, idiopathic, 4 ⚠
p.Asn292Ser Multiple submitters skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome ⚠
p.Asn307Ser Multiple submitters Inborn genetic diseases ⚠
p.Asp1103Tyr Multiple submitters Inborn genetic diseases ⚠
p.Asp706Asn Multiple submitters Inborn genetic diseases ⚠
p.Asp850Gly Multiple submitters myofibromatosis, infantile, 1 ⚠
p.Gln972Lys Multiple submitters skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome ⚠
p.Glu15Lys Multiple submitters skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome ⚠
p.Glu364Lys Multiple submitters ⚠
p.Glu563Lys Multiple submitters PDGFRB-related disorder ⚠
p.Glu767Lys Multiple submitters infantile myofibromatosis ⚠
p.Glu794Lys Multiple submitters basal ganglia calcification, idiopathic, 4 ⚠
p.Glu959Lys Multiple submitters infantile myofibromatosis ⚠
p.Gly126Ala Multiple submitters basal ganglia calcification, idiopathic, 4 ⚠
p.Gly32Ser Multiple submitters infantile myofibromatosis ⚠
p.Leu24Phe Multiple submitters Inborn genetic diseases ⚠
p.Leu93Ile Multiple submitters acroosteolysis-keloid-like lesions-premature aging syndrome ⚠
p.Lys745Asn Multiple submitters basal ganglia calcification, idiopathic, 4 ⚠
p.Met554Val Multiple submitters Inborn genetic diseases ⚠
p.Phe351Tyr Multiple submitters skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome ⚠
p.Pro154Arg Multiple submitters basal ganglia calcification, idiopathic, 4 ⚠
p.Pro588Ser Multiple submitters basal ganglia calcification, idiopathic, 4 ⚠
p.Ser1047Pro Multiple submitters Inborn genetic diseases ⚠
p.Ser313Gly Multiple submitters Inborn genetic diseases ⚠
p.Ser656Thr Multiple submitters acroosteolysis-keloid-like lesions-premature aging syndrome ⚠
p.Ser952Cys Multiple submitters PDGFRB-related disorder ⚠
p.Ser980Asn Multiple submitters skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome ⚠
p.Thr1004Ile Multiple submitters Inborn genetic diseases ⚠
p.Thr1054Ser Multiple submitters Inborn genetic diseases ⚠
p.Val216Ile Multiple submitters skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome ⚠
p.Val224fs Multiple submitters
p.Val51Ile Multiple submitters basal ganglia calcification, idiopathic, 4 ⚠
p.Val572Met Multiple submitters acroosteolysis-keloid-like lesions-premature aging syndrome ⚠
p.Val779Ile Multiple submitters ⚠
c.1913-4T>C Single submitter left ventricular noncompaction
c.2023+4C>G Single submitter
c.2023+5C>T Single submitter acroosteolysis-keloid-like lesions-premature aging syndrome
c.2023+6G>A Single submitter basal ganglia calcification, idiopathic, 4
c.2463+4C>T Single submitter basal ganglia calcification, idiopathic, 4
c.2464-3C>T Single submitter acroosteolysis-keloid-like lesions-premature aging syndrome
c.2698+1G>T Single submitter basal ganglia calcification, idiopathic, 4
c.2798+1G>A Single submitter infantile myofibromatosis
c.2905-1G>T Single submitter basal ganglia calcification, idiopathic, 4
c.2905-3_2905-1del Single submitter
c.2905-5A>G Single submitter
c.631+1G>A Single submitter skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
c.631+2T>C Single submitter
p.Ala1011Asp Single submitter Inborn genetic diseases ⚠
p.Ala1099Thr Single submitter ⚠
p.Ala11Thr Single submitter Inborn genetic diseases ⚠
p.Ala281Thr Single submitter Inborn genetic diseases ⚠
p.Ala366Thr Single submitter acroosteolysis-keloid-like lesions-premature aging syndrome ⚠
p.Ala389Pro Single submitter Inborn genetic diseases ⚠
p.Ala389Thr Single submitter ⚠
p.Ala619Val Single submitter basal ganglia calcification, idiopathic, 4 ⚠
p.Ala647Val Single submitter skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome ⚠
p.Ala6Gly Single submitter infantile myofibromatosis ⚠
p.Ala713Thr Single submitter ⚠
p.Ala713Val Single submitter ⚠
p.Ala789Val Single submitter PDGFRB-related disorder ⚠
p.Ala811= Single submitter
p.Ala984Thr Single submitter Inborn genetic diseases ⚠
p.Arg1098Trp Single submitter infantile myofibromatosis ⚠
p.Arg150Gln Single submitter basal ganglia calcification, idiopathic, 4 ⚠
p.Arg177Gly Single submitter Inborn genetic diseases ⚠
p.Arg317Gln Single submitter infantile myofibromatosis ⚠
p.Arg332Gln Single submitter skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome ⚠
p.Arg332Trp Single submitter infantile myofibromatosis ⚠
p.Arg334Trp Single submitter ⚠
p.Arg376Gln Single submitter basal ganglia calcification, idiopathic, 4 ⚠
p.Arg376Trp Single submitter ⚠
p.Arg385His Single submitter skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome ⚠
p.Arg385Pro Single submitter ⚠
p.Arg397Gln Single submitter infantile myofibromatosis ⚠
p.Arg435His Single submitter myofibromatosis, infantile, 1 ⚠
p.Arg437His Single submitter skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome ⚠
p.Arg439Pro Single submitter ⚠
p.Arg511Cys Single submitter skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome ⚠
p.Arg511His Single submitter ⚠
p.Arg641Leu Single submitter Inborn genetic diseases ⚠
p.Arg64Gln Single submitter acroosteolysis-keloid-like lesions-premature aging syndrome ⚠
p.Arg64Trp Single submitter basal ganglia calcification, idiopathic, 4 ⚠
p.Arg685His Single submitter skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome ⚠
p.Arg709Cys Single submitter Inborn genetic diseases ⚠
p.Arg849Leu Single submitter ⚠
p.Arg849Pro Single submitter basal ganglia calcification, idiopathic, 4 ⚠
p.Arg999Pro Single submitter ⚠
p.Asn1015Ser Single submitter Inborn genetic diseases ⚠
p.Asn1050Ser Single submitter Inborn genetic diseases ⚠
p.Asn371Lys Single submitter ⚠
p.Asp1027Ala Single submitter basal ganglia calcification, idiopathic, 4 ⚠
p.Asp200Asn Single submitter Inborn genetic diseases ⚠
p.Asp200Glu Single submitter ⚠
p.Asp267Asn Single submitter Inborn genetic diseases ⚠
p.Asp267Ser Single submitter skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
p.Asp299Glu Single submitter acroosteolysis-keloid-like lesions-premature aging syndrome ⚠
p.Asp359Asn Single submitter basal ganglia calcification, idiopathic, 4 ⚠
p.Asp575Gly Single submitter ⚠
p.Asp688His Single submitter skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome ⚠
p.Asp706Glu Single submitter ⚠
p.Asp706Tyr Single submitter basal ganglia calcification, idiopathic, 4 ⚠
p.Asp737Asn Single submitter ⚠
p.Asp776Glu Single submitter skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome ⚠
p.Asp826Gly Single submitter ⚠
p.Asp885Asn Single submitter acroosteolysis-keloid-like lesions-premature aging syndrome ⚠
p.Asp981Asn Single submitter ⚠
p.Cys1094Ter Single submitter skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
p.Cys787Tyr Single submitter skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome ⚠
p.Cys843Tyr Single submitter Inborn genetic diseases ⚠
p.Gln28Pro Single submitter Inborn genetic diseases ⚠
p.Gln31Lys Single submitter infantile myofibromatosis ⚠
p.Gln31Ter Single submitter
p.Gln516His Single submitter skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome ⚠
p.Gln71Arg Single submitter skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome ⚠
p.Gln953Lys Single submitter ⚠
p.Glu1031Lys Single submitter ⚠
p.Glu1035Lys Single submitter Inborn genetic diseases ⚠
p.Glu1069Ter Single submitter
p.Glu1081Lys Single submitter parkinsonian disorder ⚠
p.Glu1085_Leu1086insProGlu Single submitter infantile myofibromatosis
p.Glu133Lys Single submitter skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome ⚠
p.Glu162Lys Single submitter skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome ⚠
p.Glu246Lys Single submitter basal ganglia calcification, idiopathic, 4 ⚠
p.Glu282Val Single submitter ⚠
p.Glu284Lys Single submitter Inborn genetic diseases ⚠
p.Glu341Gln Single submitter acroosteolysis-keloid-like lesions-premature aging syndrome ⚠
p.Glu374Asp Single submitter ⚠
p.Glu41Lys Single submitter Inborn genetic diseases ⚠
p.Glu460Lys Single submitter skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome ⚠
p.Glu471Gly Single submitter ⚠
p.Glu471Lys Single submitter PDGFRB-related disorder ⚠
p.Glu472Val Single submitter Inborn genetic diseases ⚠
p.Glu477Asp Single submitter Inborn genetic diseases ⚠
p.Glu486Lys Single submitter PDGFRB-related disorder ⚠
p.Glu488Val Single submitter Inborn genetic diseases ⚠
p.Glu520del Single submitter Inborn genetic diseases
p.Glu682Lys Single submitter Inborn genetic diseases ⚠
p.Glu906Gln Single submitter Inborn genetic diseases ⚠
p.Glu911Lys Single submitter Inborn genetic diseases ⚠
p.Glu932Gln Single submitter ⚠
p.Glu932Lys Single submitter skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome ⚠
p.Glu976Val Single submitter ⚠
p.Gly239Arg Single submitter myofibromatosis, infantile, 1 ⚠
p.Gly320Arg Single submitter Inborn genetic diseases ⚠
p.Gly576Ser Single submitter basal ganglia calcification, idiopathic, 4 ⚠
p.Gly674Arg Single submitter basal ganglia calcification, idiopathic, 4 ⚠
p.Gly805Val Single submitter skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome ⚠
p.Gly890Arg Single submitter acroosteolysis-keloid-like lesions-premature aging syndrome ⚠
p.His102Arg Single submitter Inborn genetic diseases ⚠
p.His175Arg Single submitter ⚠
p.His331Tyr Single submitter infantile myofibromatosis ⚠
p.His393Arg Single submitter Inborn genetic diseases ⚠
p.His426Gln Single submitter basal ganglia calcification, idiopathic, 4 ⚠
p.His426Pro Single submitter skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome ⚠
p.His499Tyr Single submitter skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome ⚠
p.His526Arg Single submitter Inborn genetic diseases ⚠
p.His526Tyr Single submitter infantile myofibromatosis ⚠
p.His624Tyr Single submitter basal ganglia calcification, idiopathic, 4 ⚠
p.His704Arg Single submitter Inborn genetic diseases ⚠
p.Ile1023Ser Single submitter ⚠
p.Ile145Val Single submitter ⚠
p.Ile236Thr Single submitter Inborn genetic diseases ⚠
p.Ile272Leu Single submitter ⚠
p.Ile538_Ala540delinsGlnGlyAspLeuThr Single submitter PDGFRB-related disorder
p.Ile677Val Single submitter ⚠
p.Ile851Met Single submitter Inborn genetic diseases ⚠
p.Ile851Thr Single submitter basal ganglia calcification, idiopathic, 4 ⚠
p.Ile896Met Single submitter Inborn genetic diseases ⚠
p.Ile933Phe Single submitter basal ganglia calcification, idiopathic, 4 ⚠
p.Ile985Thr Single submitter basal ganglia calcification, idiopathic, 4 ⚠
p.Leu1089fs Single submitter Inborn genetic diseases
p.Leu156Arg Single submitter ⚠
p.Leu3Phe Single submitter Inborn genetic diseases ⚠
p.Leu44Phe Single submitter ⚠
p.Leu476Arg Single submitter ⚠
p.Leu539Pro Single submitter ⚠
p.Leu541fs Single submitter
p.Leu544Phe Single submitter acroosteolysis-keloid-like lesions-premature aging syndrome ⚠
p.Leu552Phe Single submitter skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome ⚠
p.Leu587Pro Single submitter acroosteolysis-keloid-like lesions-premature aging syndrome ⚠
p.Leu602fs Single submitter acroosteolysis-keloid-like lesions-premature aging syndrome
p.Leu658Phe Single submitter ⚠
p.Leu668Met Single submitter ⚠
p.Leu724Val Single submitter ⚠
p.Leu732Trp Single submitter myofibromatosis, infantile, 1 ⚠
p.Leu90His Single submitter ⚠
p.Lys114Thr Single submitter Inborn genetic diseases ⚠
p.Lys191Arg Single submitter ⚠
p.Lys387Asn Single submitter ⚠
p.Lys567Arg Single submitter ⚠
p.Lys707Glu Single submitter ⚠
p.Lys745Glu Single submitter ⚠
p.Lys762Arg Single submitter Inborn genetic diseases ⚠
p.Lys868Arg Single submitter ⚠
p.Lys868Asn Single submitter Inborn genetic diseases ⚠
p.Met629Arg Single submitter ⚠
p.Met629Lys Single submitter Inborn genetic diseases ⚠
p.Met629Thr Single submitter Inborn genetic diseases ⚠
p.Met649Ile Single submitter ⚠
p.Met649Val Single submitter ⚠
p.Met741Thr Single submitter skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome ⚠
p.Met757Thr Single submitter acroosteolysis-keloid-like lesions-premature aging syndrome ⚠
p.Met757Val Single submitter ⚠
p.Met801Thr Single submitter basal ganglia calcification, idiopathic, 4 ⚠
p.Met852Ile Single submitter Inborn genetic diseases ⚠
p.Met937Ile Single submitter ⚠
p.Met937Thr Single submitter ⚠
p.Phe340Leu Single submitter ⚠
p.Phe81Ile Single submitter ⚠
p.Pro1014Ser Single submitter skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome ⚠
p.Pro1026Ser Single submitter ⚠
p.Pro1066Thr Single submitter ⚠
p.Pro1084Ala Single submitter Inborn genetic diseases ⚠
p.Pro1090Leu Single submitter Inborn genetic diseases ⚠
p.Pro148Leu Single submitter Inborn genetic diseases ⚠
p.Pro154Ser Single submitter basal ganglia calcification, idiopathic, 4 ⚠
p.Pro250Ala Single submitter Inborn genetic diseases ⚠
p.Pro269Ala Single submitter basal ganglia calcification, idiopathic, 4 ⚠
p.Pro27Ser Single submitter Inborn genetic diseases ⚠
p.Pro345Leu Single submitter acroosteolysis-keloid-like lesions-premature aging syndrome ⚠
p.Pro346Leu Single submitter ⚠
p.Pro37Ala Single submitter ⚠
p.Pro38Leu Single submitter Inborn genetic diseases ⚠
p.Pro444Ala Single submitter ⚠
p.Pro458Ser Single submitter Inborn genetic diseases ⚠
p.Pro463Leu Single submitter myofibromatosis, infantile, 1 ⚠
p.Pro59Arg Single submitter basal ganglia calcification, idiopathic, 4 ⚠
p.Pro660Thr Single submitter acroosteolysis-keloid-like lesions-premature aging syndrome ⚠
p.Pro676Leu Single submitter Inborn genetic diseases ⚠
p.Pro710Ser Single submitter Inborn genetic diseases ⚠
p.Pro753Ser Single submitter ⚠
p.Pro796Ser Single submitter acroosteolysis-keloid-like lesions-premature aging syndrome ⚠
p.Pro8Ala Single submitter ⚠
p.Pro905Leu Single submitter skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome ⚠
p.Pro905Thr Single submitter ⚠
p.Ser1006Phe Single submitter Inborn genetic diseases ⚠
p.Ser1059Phe Single submitter ⚠
p.Ser105Phe Single submitter Inborn genetic diseases ⚠
p.Ser1062Arg Single submitter basal ganglia calcification, idiopathic, 4 ⚠
p.Ser1092Thr Single submitter skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome ⚠
p.Ser361Thr Single submitter skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome ⚠
p.Ser408Tyr Single submitter ⚠
p.Ser425Asn Single submitter myofibromatosis, infantile, 1 ⚠
p.Ser425Cys Single submitter acroosteolysis-keloid-like lesions-premature aging syndrome ⚠
p.Ser425Gly Single submitter skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome ⚠
p.Ser449Phe Single submitter skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome ⚠
p.Ser474Arg Single submitter Inborn genetic diseases ⚠
p.Ser548delinsMetLeuIleThr Single submitter
p.Ser55= Single submitter skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
p.Ser591Phe Single submitter ⚠
p.Ser608Pro Single submitter Inborn genetic diseases ⚠
p.Ser731Ala Single submitter skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome ⚠
p.Ser795Phe Single submitter ⚠
p.Ser862= Single submitter skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
p.Ser980Arg Single submitter ⚠
p.Thr1010Ile Single submitter infantile myofibromatosis ⚠
p.Thr159Lys Single submitter Inborn genetic diseases ⚠
p.Thr192Ile Single submitter acroosteolysis-keloid-like lesions-premature aging syndrome ⚠
p.Thr288Ala Single submitter Inborn genetic diseases ⚠
p.Thr294Ala Single submitter Inborn genetic diseases ⚠
p.Thr294Met Single submitter Inborn genetic diseases ⚠
p.Thr382Ile Single submitter ⚠
p.Thr433Arg Single submitter basal ganglia calcification, idiopathic, 4 ⚠
p.Thr478Ile Single submitter Inborn genetic diseases ⚠
p.Thr478Ser Single submitter Inborn genetic diseases ⚠
p.Thr592Lys Single submitter acroosteolysis-keloid-like lesions-premature aging syndrome ⚠
p.Thr592Met Single submitter acroosteolysis-keloid-like lesions-premature aging syndrome ⚠
p.Thr618Met Single submitter skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome ⚠
p.Thr699fs Single submitter basal ganglia calcification, idiopathic, 4
p.Thr786Ile Single submitter skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome ⚠
p.Thr80Ile Single submitter ⚠
p.Trp593Arg Single submitter acroosteolysis-keloid-like lesions-premature aging syndrome ⚠
p.Tyr173Cys Single submitter ⚠
p.Tyr249His Single submitter basal ganglia calcification, idiopathic, 4 ⚠
p.Tyr315Cys Single submitter ⚠
p.Tyr562Ter Single submitter basal ganglia calcification, idiopathic, 4
p.Tyr751Cys Single submitter ⚠
p.Tyr771Cys Single submitter ⚠
p.Tyr914Cys Single submitter acroosteolysis-keloid-like lesions-premature aging syndrome ⚠
p.Tyr970Ser Single submitter basal ganglia calcification, idiopathic, 4 ⚠
p.Val1052Ile Single submitter Inborn genetic diseases ⚠
p.Val151Ile Single submitter skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome ⚠
p.Val171Phe Single submitter basal ganglia calcification, idiopathic, 4 ⚠
p.Val242Leu Single submitter ⚠
p.Val258Met Single submitter Inborn genetic diseases ⚠
p.Val310Met Single submitter Inborn genetic diseases ⚠
p.Val311Ile Single submitter myofibromatosis, infantile, 1 ⚠
p.Val386Leu Single submitter basal ganglia calcification, idiopathic, 4 ⚠
p.Val514Met Single submitter skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome ⚠
p.Val521Gly Single submitter Inborn genetic diseases ⚠
p.Val524= Single submitter