Sugi Variant

Sugi Variant/PDGFRA

PDGFRA — 3558 ClinVar variants

All ClinVar germline PDGFRA variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 1865 flagged for review →

6 Pathogenic · 247 Conflicting · 89 Benign · 39 Benign/Likely benign · 1206 Likely benign · 1971 Uncertain significance

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

⚑ Evidence disagreements 1865

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 agree, ClinVar conflicts 122

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

Predicted LoF vs a conflicting call 1

ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.

Predictors lean, ClinVar uncertain 1121

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 1121

Predictors split 621

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 621

All PDGFRA variants

Pathogenic 6

Conflicting classifications of pathogenicity 247

  • c.1122-5A>G Single submitter gastrointestinal stromal tumor
  • c.1122-6T>A Single submitter gastrointestinal stromal tumor
  • c.1237+3A>T Single submitter gastrointestinal stromal tumor
  • c.1559-11_1559-10del Single submitter gastrointestinal stromal tumor
  • c.1559-4G>C Single submitter hereditary neoplastic syndrome
  • c.1892-5A>G Single submitter gastrointestinal stromal tumor
  • c.2003-3T>C Single submitter gastrointestinal stromal tumor
  • c.2003-7C>T Single submitter gastrointestinal stromal tumor
  • c.2324-3C>T Single submitter hereditary neoplastic syndrome
  • c.2440-3C>T Single submitter hereditary neoplastic syndrome
  • c.2562+4C>T Single submitter hereditary neoplastic syndrome
  • c.2563-5T>C Single submitter gastrointestinal stromal tumor
  • c.2674+3A>G Single submitter hereditary neoplastic syndrome
  • c.2880+5G>A Single submitter hereditary neoplastic syndrome
  • c.2881-8G>A Single submitter gastrointestinal stromal tumor
  • c.49+5G>A Single submitter hereditary neoplastic syndrome
  • c.628+4C>T Single submitter hereditary neoplastic syndrome
  • c.760-4G>T Single submitter hereditary neoplastic syndrome
  • c.932-13C>A Single submitter gastrointestinal stromal tumor
  • c.932-8C>T Single submitter gastrointestinal stromal tumor
  • c.*1778C>A Single submitter idiopathic hypereosinophilic syndrome
  • c.*2100A>G Single submitter gastrointestinal stromal tumor
  • c.*2336T>C Single submitter idiopathic hypereosinophilic syndrome
  • c.*2970G>T Single submitter idiopathic hypereosinophilic syndrome
  • c.*39C>T Single submitter gastrointestinal stromal tumor
  • c.*505A>G Single submitter idiopathic hypereosinophilic syndrome
  • p.Ala1014Thr Single submitter hereditary neoplastic syndrome ⚠
  • p.Ala146Val Single submitter hereditary neoplastic syndrome ⚠
  • p.Ala170Val Single submitter gastrointestinal stromal tumor ⚠
  • p.Ala191Thr Single submitter hereditary neoplastic syndrome ⚠
  • p.Ala220Thr Single submitter hereditary neoplastic syndrome ⚠
  • p.Ala280Ser Single submitter hereditary neoplastic syndrome ⚠
  • p.Ala491Thr Single submitter hereditary neoplastic syndrome ⚠
  • p.Ala498Thr Single submitter gastrointestinal stromal tumor ⚠
  • p.Ala640Ser Single submitter gastrointestinal stromal tumor ⚠
  • p.Ala7Glu Single submitter hereditary neoplastic syndrome ⚠
  • p.Ala7Val Single submitter gastrointestinal stromal tumor ⚠
  • p.Ala92= Single submitter hereditary neoplastic syndrome
  • p.Ala92Val Single submitter gastrointestinal stromal tumor ⚠
  • p.Ala987Val Single submitter polyps, multiple and recurrent inflammatory fibroid, gastrointestinal ⚠
  • p.Arg115= Single submitter gastrointestinal stromal tumor
  • p.Arg151Cys Single submitter polyps, multiple and recurrent inflammatory fibroid, gastrointestinal ⚠
  • p.Arg293Cys Single submitter hereditary neoplastic syndrome ⚠
  • p.Arg293His Single submitter hereditary neoplastic syndrome ⚠
  • p.Arg297Lys Single submitter hereditary neoplastic syndrome ⚠
  • p.Arg340= Single submitter hereditary neoplastic syndrome
  • p.Arg340Trp Single submitter hereditary neoplastic syndrome ⚠
  • p.Arg374= Single submitter gastrointestinal stromal tumor
  • p.Arg383Cys Single submitter gastrointestinal stromal tumor ⚠
  • p.Arg479Gln Single submitter hereditary neoplastic syndrome ⚠
  • p.Arg48= Single submitter hereditary neoplastic syndrome
  • p.Arg487His Single submitter hereditary neoplastic syndrome ⚠
  • p.Arg522His Single submitter hereditary neoplastic syndrome ⚠
  • p.Arg558His Single submitter hereditary neoplastic syndrome ⚠
  • p.Arg718Trp Single submitter hereditary neoplastic syndrome ⚠
  • p.Arg764His Single submitter hereditary neoplastic syndrome ⚠
  • p.Arg804Gln Single submitter hereditary neoplastic syndrome ⚠
  • p.Arg817Cys Single submitter polyps, multiple and recurrent inflammatory fibroid, gastrointestinal ⚠
  • p.Arg914= Single submitter idiopathic hypereosinophilic syndrome
  • p.Arg979Cys Single submitter hereditary neoplastic syndrome ⚠
  • p.Arg979His Single submitter idiopathic hypereosinophilic syndrome ⚠
  • p.Arg981His Single submitter polyps, multiple and recurrent inflammatory fibroid, gastrointestinal ⚠
  • p.Arg981Pro Single submitter polyps, multiple and recurrent inflammatory fibroid, gastrointestinal ⚠
  • p.Asn163Lys Single submitter hereditary neoplastic syndrome ⚠
  • p.Asn240Ser Single submitter hereditary neoplastic syndrome ⚠
  • p.Asn328Asp Single submitter gastrointestinal stromal tumor ⚠
  • p.Asn328Ser Single submitter gastrointestinal stromal tumor ⚠
  • p.Asn33Tyr Single submitter hereditary neoplastic syndrome ⚠
  • p.Asn353His Single submitter polyps, multiple and recurrent inflammatory fibroid, gastrointestinal ⚠
  • p.Asn35Asp Single submitter hereditary neoplastic syndrome ⚠
  • p.Asn471His Single submitter hereditary neoplastic syndrome ⚠
  • p.Asn711Asp Single submitter hereditary neoplastic syndrome ⚠
  • p.Asn73= Single submitter gastrointestinal stromal tumor
  • p.Asp1033Val Single submitter ovarian cancer ⚠
  • p.Asp1064Gly Single submitter hereditary neoplastic syndrome ⚠
  • p.Asp1069Gly Single submitter hereditary neoplastic syndrome ⚠
  • p.Asp1071Asn Single submitter PDGFRA-related disorder ⚠
  • p.Asp1075Asn Single submitter gastrointestinal stromal tumor
  • p.Asp135Glu Single submitter hereditary neoplastic syndrome ⚠
  • p.Asp142Glu Single submitter hereditary neoplastic syndrome ⚠
  • p.Asp173Asn Single submitter polyps, multiple and recurrent inflammatory fibroid, gastrointestinal ⚠
  • p.Asp173His Single submitter polyps, multiple and recurrent inflammatory fibroid, gastrointestinal ⚠
  • p.Asp215Val Single submitter hereditary neoplastic syndrome ⚠
  • p.Asp419Tyr Single submitter hereditary neoplastic syndrome ⚠
  • p.Asp444His Single submitter polyps, multiple and recurrent inflammatory fibroid, gastrointestinal ⚠
  • p.Asp444Val Single submitter hereditary neoplastic syndrome ⚠
  • p.Asp480= Single submitter hereditary neoplastic syndrome
  • p.Asp68Asn Single submitter gastrointestinal stromal tumor ⚠
  • p.Asp756Asn Single submitter gastrointestinal stromal tumor ⚠
  • p.Asp846Tyr Single submitter hereditary neoplastic syndrome ⚠
  • p.Gln176Arg Single submitter polyps, multiple and recurrent inflammatory fibroid, gastrointestinal ⚠
  • p.Gln323Glu Single submitter PDGFRA-related disorder ⚠
  • p.Gln323His Single submitter gastrointestinal stromal tumor ⚠
  • p.Gln58Arg Single submitter gastrointestinal stromal tumor ⚠
  • p.Gln828Arg Single submitter hereditary neoplastic syndrome ⚠
  • p.Glu1065= Single submitter idiopathic hypereosinophilic syndrome
  • p.Glu1065Lys Single submitter polyps, multiple and recurrent inflammatory fibroid, gastrointestinal ⚠
  • p.Glu108Lys Single submitter polyps, multiple and recurrent inflammatory fibroid, gastrointestinal ⚠
  • p.Glu156Lys Single submitter hereditary neoplastic syndrome ⚠
  • p.Glu219= Single submitter hereditary neoplastic syndrome
  • p.Glu262Gln Single submitter hereditary neoplastic syndrome ⚠
  • p.Glu279Lys Single submitter hereditary neoplastic syndrome ⚠
  • p.Glu475Ala Single submitter polyps, multiple and recurrent inflammatory fibroid, gastrointestinal ⚠
  • p.Glu475Asp Single submitter gastrointestinal stromal tumor ⚠
  • p.Glu704Asp Single submitter gastrointestinal stromal tumor ⚠
  • p.Glu963Lys Single submitter gastrointestinal stromal tumor ⚠
  • p.Gly12Ala Single submitter ovarian cancer ⚠
  • p.Gly166Val Single submitter hereditary neoplastic syndrome ⚠
  • p.Gly17Val Single submitter hereditary neoplastic syndrome ⚠
  • p.Gly429= Single submitter hereditary neoplastic syndrome
  • p.Gly508Arg Single submitter hereditary neoplastic syndrome ⚠
  • p.Gly680= Single submitter hereditary neoplastic syndrome
  • p.Gly79Ser Single submitter polyps, multiple and recurrent inflammatory fibroid, gastrointestinal ⚠
  • p.Gly893= Single submitter hereditary neoplastic syndrome
  • p.His104Arg Single submitter gastrointestinal stromal tumor ⚠
  • p.His310= Single submitter hereditary neoplastic syndrome
  • p.His425Arg Single submitter gastrointestinal stromal tumor ⚠
  • p.His425Tyr Single submitter gastrointestinal stromal tumor ⚠
  • p.His845Arg Single submitter gastrointestinal stromal tumor ⚠
  • p.His966Arg Single submitter polyps, multiple and recurrent inflammatory fibroid, gastrointestinal ⚠
  • p.Ile1060Asn Single submitter polyps, multiple and recurrent inflammatory fibroid, gastrointestinal ⚠
  • p.Ile1070Val Single submitter hereditary neoplastic syndrome ⚠
  • p.Ile117Val Single submitter gastrointestinal stromal tumor ⚠
  • p.Ile139Val Single submitter gastrointestinal stromal tumor ⚠
  • p.Ile258Val Single submitter hereditary neoplastic syndrome ⚠
  • p.Ile269Met Single submitter hereditary neoplastic syndrome ⚠
  • p.Ile30Val Single submitter polyps, multiple and recurrent inflammatory fibroid, gastrointestinal ⚠
  • p.Ile315Val Single submitter gastrointestinal stromal tumor ⚠
  • p.Ile394Leu Single submitter gastrointestinal stromal tumor ⚠
  • p.Ile449Met Single submitter hereditary neoplastic syndrome ⚠
  • p.Ile464Val Single submitter gastrointestinal stromal tumor ⚠
  • p.Ile472Ser Single submitter hereditary neoplastic syndrome ⚠
  • p.Ile472Val Single submitter hereditary neoplastic syndrome ⚠
  • p.Ile473Val Single submitter hereditary neoplastic syndrome ⚠
  • p.Ile543Thr Single submitter hereditary neoplastic syndrome ⚠
  • p.Ile657Thr Single submitter gastrointestinal stromal tumor ⚠
  • p.Ile707Val Single submitter gastrointestinal stromal tumor ⚠
  • p.Ile71Phe Single submitter hereditary neoplastic syndrome ⚠
  • p.Ile831Thr Single submitter hereditary neoplastic syndrome ⚠
  • p.Ile989Leu Single submitter hereditary neoplastic syndrome ⚠
  • p.Ile989Val Single submitter gastrointestinal stromal tumor ⚠
  • p.Leu1000Val Single submitter polyps, multiple and recurrent inflammatory fibroid, gastrointestinal ⚠
  • p.Leu112Phe Single submitter ovarian cancer ⚠
  • p.Leu22Phe Single submitter hereditary neoplastic syndrome ⚠
  • p.Leu245Ile Single submitter gastrointestinal stromal tumor ⚠
  • p.Leu379Val Single submitter hereditary neoplastic syndrome ⚠
  • p.Leu442Pro Single submitter idiopathic hypereosinophilic syndrome ⚠
  • p.Leu47= Single submitter hereditary neoplastic syndrome
  • p.Leu506Phe Single submitter hereditary neoplastic syndrome ⚠
  • p.Leu781Ile Single submitter gastrointestinal stromal tumor ⚠
  • p.Leu790Phe Single submitter gastrointestinal stromal tumor ⚠
  • p.Leu891= Single submitter hereditary neoplastic syndrome
  • p.Leu9= Single submitter hereditary neoplastic syndrome
  • p.Lys194Arg Single submitter polyps, multiple and recurrent inflammatory fibroid, gastrointestinal ⚠
  • p.Lys197Thr Single submitter hereditary neoplastic syndrome ⚠
  • p.Lys256Arg Single submitter hereditary neoplastic syndrome ⚠
  • p.Lys270Thr Single submitter hereditary neoplastic syndrome ⚠
  • p.Lys300Thr Single submitter polyps, multiple and recurrent inflammatory fibroid, gastrointestinal ⚠
  • p.Lys318= Single submitter gastrointestinal stromal tumor
  • p.Lys333Arg Single submitter hereditary neoplastic syndrome ⚠
  • p.Lys378Ile Single submitter PDGFRA-related disorder ⚠
  • p.Lys378Thr Single submitter gastrointestinal stromal tumor ⚠
  • p.Lys455= Single submitter hereditary neoplastic syndrome
  • p.Lys769Met Single submitter idiopathic hypereosinophilic syndrome ⚠
  • p.Lys852= Single submitter hereditary neoplastic syndrome
  • p.Lys910Arg Single submitter hereditary neoplastic syndrome ⚠
  • p.Lys999Asn Single submitter hereditary neoplastic syndrome ⚠
  • p.Met1073fs Single submitter gastrointestinal stromal tumor ⚠
  • p.Met1073Thr Single submitter polyps, multiple and recurrent inflammatory fibroid, gastrointestinal ⚠
  • p.Met260Arg Single submitter gastrointestinal stromal tumor ⚠
  • p.Met980Thr Single submitter polyps, multiple and recurrent inflammatory fibroid, gastrointestinal ⚠
  • p.Phe198Ile Single submitter polyps, multiple and recurrent inflammatory fibroid, gastrointestinal ⚠
  • p.Phe321= Single submitter hereditary neoplastic syndrome
  • p.Phe708Ser Single submitter hereditary neoplastic syndrome ⚠
  • p.Pro122= Single submitter hereditary neoplastic syndrome
  • p.Pro169Leu Single submitter hereditary neoplastic syndrome ⚠
  • p.Pro267= Single submitter hereditary neoplastic syndrome
  • p.Pro519= Single submitter gastrointestinal stromal tumor
  • p.Pro631Ser Single submitter hereditary neoplastic syndrome ⚠
  • p.Pro6Leu Single submitter hereditary neoplastic syndrome ⚠
  • p.Pro744= Single submitter hereditary neoplastic syndrome
  • p.Ser1042Leu Single submitter hereditary neoplastic syndrome ⚠
  • p.Ser171Phe Single submitter hereditary neoplastic syndrome ⚠
  • p.Ser227Ala Single submitter hereditary neoplastic syndrome ⚠
  • p.Ser268Phe Single submitter hereditary neoplastic syndrome ⚠
  • p.Ser285Gly Single submitter hereditary neoplastic syndrome ⚠
  • p.Ser29Pro Single submitter gastrointestinal stromal tumor ⚠
  • p.Ser322= Single submitter hereditary neoplastic syndrome
  • p.Ser427Leu Single submitter idiopathic hypereosinophilic syndrome ⚠
  • p.Ser56Arg Single submitter gastrointestinal stromal tumor ⚠
  • p.Ser56Thr Single submitter hereditary neoplastic syndrome ⚠
  • p.Ser66Gly Single submitter gastrointestinal stromal tumor ⚠
  • p.Ser692Asn Single submitter hereditary neoplastic syndrome ⚠
  • p.Ser760Pro Single submitter hereditary neoplastic syndrome ⚠
  • p.Ser772Tyr Single submitter hereditary neoplastic syndrome ⚠
  • p.Ser91Leu Single submitter hereditary neoplastic syndrome ⚠
  • p.Ser984Leu Single submitter hereditary neoplastic syndrome ⚠
  • p.Thr1052Met Single submitter polyps, multiple and recurrent inflammatory fibroid, gastrointestinal ⚠
  • p.Thr134Met Single submitter hereditary neoplastic syndrome ⚠
  • p.Thr152Ala Single submitter hereditary neoplastic syndrome ⚠
  • p.Thr16Ser Single submitter hereditary neoplastic syndrome ⚠
  • p.Thr200Ser Single submitter hereditary neoplastic syndrome ⚠
  • p.Thr259Ala Single submitter hereditary neoplastic syndrome ⚠
  • p.Thr274Ser Single submitter gastrointestinal stromal tumor ⚠
  • p.Thr276Met Single submitter hereditary neoplastic syndrome ⚠
  • p.Thr428Ala Single submitter hereditary neoplastic syndrome ⚠
  • p.Thr428Ile Single submitter polyps, multiple and recurrent inflammatory fibroid, gastrointestinal ⚠
  • p.Thr428Ser Single submitter hereditary neoplastic syndrome ⚠
  • p.Thr432Met Single submitter gastrointestinal stromal tumor ⚠
  • p.Thr436Ile Single submitter hereditary neoplastic syndrome ⚠
  • p.Thr440Met Single submitter hereditary neoplastic syndrome ⚠
  • p.Thr463Ser Single submitter polyps, multiple and recurrent inflammatory fibroid, gastrointestinal ⚠
  • p.Thr474= Single submitter hereditary neoplastic syndrome
  • p.Thr489Ser Single submitter hereditary neoplastic syndrome ⚠
  • p.Thr496Ala Single submitter hereditary neoplastic syndrome ⚠
  • p.Thr526Met Single submitter polyps, multiple and recurrent inflammatory fibroid, gastrointestinal ⚠
  • p.Thr632Met Single submitter idiopathic hypereosinophilic syndrome ⚠
  • p.Thr739Ala Single submitter gastrointestinal stromal tumor ⚠
  • p.Thr739Ser Single submitter hereditary neoplastic syndrome ⚠
  • p.Thr83Met Single submitter gastrointestinal stromal tumor ⚠
  • p.Thr99Ser Single submitter gastrointestinal stromal tumor ⚠
  • p.Tyr187Phe Single submitter gastrointestinal stromal tumor ⚠
  • p.Val1028Ala Single submitter hereditary neoplastic syndrome ⚠
  • p.Val140Leu Single submitter gastrointestinal stromal tumor ⚠
  • p.Val140Met Single submitter polyps, multiple and recurrent inflammatory fibroid, gastrointestinal ⚠
  • p.Val167Met Single submitter hereditary neoplastic syndrome ⚠
  • p.Val193Ile Single submitter idiopathic hypereosinophilic syndrome ⚠
  • p.Val205Ile Single submitter hereditary neoplastic syndrome
  • p.Val242= Single submitter gastrointestinal stromal tumor
  • p.Val299Ala Single submitter hereditary neoplastic syndrome ⚠
  • p.Val367Met Single submitter hereditary neoplastic syndrome ⚠
  • p.Val395Ala Single submitter hereditary neoplastic syndrome ⚠
  • p.Val469Ile Single submitter hereditary neoplastic syndrome ⚠
  • p.Val484Met Single submitter polyps, multiple and recurrent inflammatory fibroid, gastrointestinal ⚠
  • p.Val499Met Single submitter gastrointestinal stromal tumor ⚠
  • p.Val533= Single submitter gastrointestinal stromal tumor
  • p.Val544Ala Single submitter polyps, multiple and recurrent inflammatory fibroid, gastrointestinal ⚠
  • p.Val55Leu Single submitter hereditary neoplastic syndrome ⚠
  • p.Val598= Single submitter hereditary neoplastic syndrome
  • p.Val598Ala Single submitter hereditary neoplastic syndrome ⚠
  • p.Val608Ile Single submitter PDGFRA-related disorder ⚠
  • p.Val69Ala Single submitter polyps, multiple and recurrent inflammatory fibroid, gastrointestinal ⚠
  • p.Val743Ile Single submitter gastrointestinal stromal tumor ⚠
  • p.Val925= Single submitter gastrointestinal stromal tumor
  • p.Asp842Val No assertion criteria gastrointestinal stromal tumor ⚠
  • p.Ile843_Asp846del No assertion criteria gastrointestinal stromal tumor
  • p.Val561Asp No assertion criteria polyps, multiple and recurrent inflammatory fibroid, gastrointestinal ⚠

Benign 89

Benign/Likely benign 39

  • c.1559-5C>T Multiple submitters hereditary neoplastic syndrome
  • c.1654-3T>C Multiple submitters gastrointestinal stromal tumor
  • c.2003-4A>T Multiple submitters gastrointestinal stromal tumor
  • c.2563-8C>T Multiple submitters gastrointestinal stromal tumor
  • c.368-3C>T Multiple submitters hereditary neoplastic syndrome
  • c.629-4A>G Multiple submitters hereditary neoplastic syndrome
  • c.-284G>A Multiple submitters idiopathic hypereosinophilic syndrome
  • c.*2504C>T Multiple submitters idiopathic hypereosinophilic syndrome
  • p.Ala401Asp Multiple submitters hereditary neoplastic syndrome
  • p.Arg374Ser Multiple submitters hereditary neoplastic syndrome
  • p.Asn77= Multiple submitters hereditary neoplastic syndrome
  • p.Gln957= Multiple submitters hereditary neoplastic syndrome
  • p.Glu807= Multiple submitters hereditary neoplastic syndrome
  • p.Gly79Asp Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ile1076= Multiple submitters hereditary neoplastic syndrome
  • p.Ile1076Met Multiple submitters hereditary neoplastic syndrome
  • p.Ile548= Multiple submitters hereditary neoplastic syndrome
  • p.Leu221Phe Multiple submitters hereditary neoplastic syndrome
  • p.Leu967Val Multiple submitters hereditary neoplastic syndrome
  • p.Lys735= Multiple submitters hereditary neoplastic syndrome
  • p.Pro60= Multiple submitters hereditary neoplastic syndrome
  • p.Pro744Ser Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Pro897= Multiple submitters hereditary neoplastic syndrome
  • p.Ser1013= Multiple submitters hereditary neoplastic syndrome
  • p.Ser67= Multiple submitters idiopathic hypereosinophilic syndrome
  • p.Thr1052= Multiple submitters hereditary neoplastic syndrome
  • p.Tyr926= Multiple submitters hereditary neoplastic syndrome
  • p.Val1084_Ter1090= Multiple submitters gastrointestinal stromal tumor
  • p.Val140= Multiple submitters hereditary neoplastic syndrome
  • p.Val224= Multiple submitters hereditary neoplastic syndrome
  • p.Val332= Multiple submitters hereditary neoplastic syndrome
  • c.-170C>T Single submitter idiopathic hypereosinophilic syndrome
  • c.*1561T>C Single submitter gastrointestinal stromal tumor
  • c.*2256G>T Single submitter gastrointestinal stromal tumor
  • c.*2465A>G Single submitter idiopathic hypereosinophilic syndrome
  • c.*2538G>A Single submitter gastrointestinal stromal tumor
  • c.*2546A>G Single submitter gastrointestinal stromal tumor
  • c.*2873C>T Single submitter idiopathic hypereosinophilic syndrome
  • c.*793C>T Single submitter idiopathic hypereosinophilic syndrome

Likely benign 1206

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

  • c.1238-4G>A Multiple submitters hereditary neoplastic syndrome
  • c.1559-4G>A Multiple submitters gastrointestinal stromal tumor
  • c.1654-4A>G Multiple submitters hereditary neoplastic syndrome
  • c.2003-4A>G Multiple submitters gastrointestinal stromal tumor
  • c.2157-135A>G Multiple submitters
  • c.2157-4del Multiple submitters hereditary neoplastic syndrome
  • c.2440-4G>A Multiple submitters gastrointestinal stromal tumor
  • c.2674+147T>C Multiple submitters
  • c.2675-105G>C Multiple submitters
  • c.2775-4A>G Multiple submitters gastrointestinal stromal tumor
  • c.3123-4C>G Multiple submitters gastrointestinal stromal tumor
  • c.368-4A>G Multiple submitters hereditary neoplastic syndrome
  • c.50-4G>T Multiple submitters hereditary neoplastic syndrome
  • c.760-4G>A Multiple submitters hereditary neoplastic syndrome
  • c.760-7G>T Multiple submitters gastrointestinal stromal tumor
  • c.*6G>A Multiple submitters
  • p.Ala207= Multiple submitters hereditary neoplastic syndrome
  • p.Ala292= Multiple submitters gastrointestinal stromal tumor
  • p.Ala341= Multiple submitters hereditary neoplastic syndrome
  • p.Ala401= Multiple submitters hereditary neoplastic syndrome
  • p.Ala466= Multiple submitters gastrointestinal stromal tumor
  • p.Ala491= Multiple submitters gastrointestinal stromal tumor
  • p.Ala498= Multiple submitters hereditary neoplastic syndrome
  • p.Ala612= Multiple submitters hereditary neoplastic syndrome
  • p.Ala7= Multiple submitters gastrointestinal stromal tumor
  • p.Ala713= Multiple submitters hereditary neoplastic syndrome
  • p.Ala821= Multiple submitters hereditary neoplastic syndrome
  • p.Ala863= Multiple submitters gastrointestinal stromal tumor
  • p.Ala916= Multiple submitters hereditary neoplastic syndrome
  • p.Ala921= Multiple submitters gastrointestinal stromal tumor
  • p.Ala93= Multiple submitters hereditary neoplastic syndrome
  • p.Ala978= Multiple submitters hereditary neoplastic syndrome
  • p.Arg1011= Multiple submitters gastrointestinal stromal tumor
  • p.Arg1037= Multiple submitters gastrointestinal stromal tumor
  • p.Arg1039= Multiple submitters gastrointestinal stromal tumor
  • p.Arg151= Multiple submitters gastrointestinal stromal tumor
  • p.Arg175= Multiple submitters gastrointestinal stromal tumor
  • p.Arg376= Multiple submitters gastrointestinal stromal tumor
  • p.Arg376Gln Multiple submitters gastrointestinal stromal tumor
  • p.Arg383= Multiple submitters hereditary neoplastic syndrome
  • p.Arg434= Multiple submitters hereditary neoplastic syndrome
  • p.Arg500= Multiple submitters gastrointestinal stromal tumor
  • p.Arg597= Multiple submitters hereditary neoplastic syndrome
  • p.Arg617= Multiple submitters hereditary neoplastic syndrome
  • p.Arg759= Multiple submitters hereditary neoplastic syndrome
  • p.Arg841= Multiple submitters gastrointestinal stromal tumor
  • p.Arg940= Multiple submitters hereditary neoplastic syndrome
  • p.Arg979= Multiple submitters gastrointestinal stromal tumor
  • p.Asn163= Multiple submitters hereditary neoplastic syndrome
  • p.Asn240= Multiple submitters hereditary neoplastic syndrome
  • p.Asn328= Multiple submitters hereditary neoplastic syndrome
  • p.Asn353= Multiple submitters gastrointestinal stromal tumor
  • p.Asn457= Multiple submitters gastrointestinal stromal tumor
  • p.Asn458= Multiple submitters hereditary neoplastic syndrome
  • p.Asn471= Multiple submitters gastrointestinal stromal tumor
  • p.Asn786= Multiple submitters hereditary neoplastic syndrome
  • p.Asn823= Multiple submitters hereditary neoplastic syndrome
  • p.Asn870= Multiple submitters hereditary neoplastic syndrome
  • p.Asn952= Multiple submitters gastrointestinal stromal tumor
  • p.Asn986= Multiple submitters hereditary neoplastic syndrome
  • p.Asn995= Multiple submitters hereditary neoplastic syndrome
  • p.Asp1002= Multiple submitters gastrointestinal stromal tumor
  • p.Asp1024= Multiple submitters gastrointestinal stromal tumor
  • p.Asp1033= Multiple submitters hereditary neoplastic syndrome
  • p.Asp1064= Multiple submitters hereditary neoplastic syndrome
  • p.Asp1071= Multiple submitters hereditary neoplastic syndrome
  • p.Asp1075= Multiple submitters gastrointestinal stromal tumor
  • p.Asp1082= Multiple submitters hereditary neoplastic syndrome
  • p.Asp1086= Multiple submitters gastrointestinal stromal tumor
  • p.Asp123= Multiple submitters hereditary neoplastic syndrome
  • p.Asp135= Multiple submitters hereditary neoplastic syndrome
  • p.Asp173= Multiple submitters hereditary neoplastic syndrome
  • p.Asp388= Multiple submitters gastrointestinal stromal tumor
  • p.Asp400= Multiple submitters gastrointestinal stromal tumor
  • p.Asp452= Multiple submitters hereditary neoplastic syndrome
  • p.Asp568= Multiple submitters hereditary neoplastic syndrome
  • p.Asp576= Multiple submitters gastrointestinal stromal tumor
  • p.Asp583= Multiple submitters hereditary neoplastic syndrome
  • p.Asp68= Multiple submitters gastrointestinal stromal tumor
  • p.Asp691= Multiple submitters hereditary neoplastic syndrome
  • p.Asp714= Multiple submitters hereditary neoplastic syndrome
  • p.Asp730= Multiple submitters hereditary neoplastic syndrome
  • p.Asp775= Multiple submitters gastrointestinal stromal tumor
  • p.Asp794= Multiple submitters gastrointestinal stromal tumor
  • p.Asp818= Multiple submitters gastrointestinal stromal tumor
  • p.Asp836= Multiple submitters hereditary neoplastic syndrome
  • p.Asp919= Multiple submitters hereditary neoplastic syndrome
  • p.Asp968= Multiple submitters hereditary neoplastic syndrome
  • p.Asp985= Multiple submitters gastrointestinal stromal tumor
  • p.Asp998= Multiple submitters hereditary neoplastic syndrome
  • p.Cys435= Multiple submitters hereditary neoplastic syndrome
  • p.Cys456= Multiple submitters gastrointestinal stromal tumor
  • p.Cys49= Multiple submitters gastrointestinal stromal tumor
  • p.Gln106= Multiple submitters hereditary neoplastic syndrome
  • p.Gln246= Multiple submitters hereditary neoplastic syndrome
  • p.Gln371= Multiple submitters hereditary neoplastic syndrome
  • p.Gln58= Multiple submitters hereditary neoplastic syndrome
  • p.Gln619= Multiple submitters gastrointestinal stromal tumor
  • p.Glu1004= Multiple submitters hereditary neoplastic syndrome
  • p.Glu1009= Multiple submitters hereditary neoplastic syndrome
  • p.Glu111= Multiple submitters hereditary neoplastic syndrome
  • p.Glu156= Multiple submitters hereditary neoplastic syndrome
  • p.Glu165= Multiple submitters hereditary neoplastic syndrome
  • p.Glu241= Multiple submitters hereditary neoplastic syndrome
  • p.Glu279= Multiple submitters gastrointestinal stromal tumor
  • p.Glu298= Multiple submitters gastrointestinal stromal tumor
  • p.Glu36= Multiple submitters hereditary neoplastic syndrome
  • p.Glu368= Multiple submitters gastrointestinal stromal tumor
  • p.Glu399= Multiple submitters hereditary neoplastic syndrome
  • p.Glu438= Multiple submitters hereditary neoplastic syndrome
  • p.Glu459= Multiple submitters gastrointestinal stromal tumor
  • p.Glu485= Multiple submitters gastrointestinal stromal tumor
  • p.Glu494= Multiple submitters gastrointestinal stromal tumor
  • p.Glu54= Multiple submitters gastrointestinal stromal tumor
  • p.Glu571= Multiple submitters gastrointestinal stromal tumor
  • p.Glu63= Multiple submitters hereditary neoplastic syndrome
  • p.Glu675= Multiple submitters hereditary neoplastic syndrome
  • p.Glu704= Multiple submitters hereditary neoplastic syndrome
  • p.Glu726= Multiple submitters hereditary neoplastic syndrome
  • p.Glu74= Multiple submitters gastrointestinal stromal tumor
  • p.Gly1035= Multiple submitters gastrointestinal stromal tumor
  • p.Gly132= Multiple submitters hereditary neoplastic syndrome
  • p.Gly166= Multiple submitters gastrointestinal stromal tumor
  • p.Gly17= Multiple submitters gastrointestinal stromal tumor
  • p.Gly177= Multiple submitters hereditary neoplastic syndrome
  • p.Gly180= Multiple submitters hereditary neoplastic syndrome
  • p.Gly185= Multiple submitters gastrointestinal stromal tumor
  • p.Gly228= Multiple submitters gastrointestinal stromal tumor
  • p.Gly251= Multiple submitters hereditary neoplastic syndrome
  • p.Gly255= Multiple submitters gastrointestinal stromal tumor
  • p.Gly286= Multiple submitters hereditary neoplastic syndrome
  • p.Gly390= Multiple submitters hereditary neoplastic syndrome
  • p.Gly430= Multiple submitters hereditary neoplastic syndrome
  • p.Gly569= Multiple submitters hereditary neoplastic syndrome
  • p.Gly592= Multiple submitters hereditary neoplastic syndrome
  • p.Gly596= Multiple submitters gastrointestinal stromal tumor
  • p.Gly610= Multiple submitters gastrointestinal stromal tumor
  • p.Gly662= Multiple submitters hereditary neoplastic syndrome
  • p.Gly668= Multiple submitters hereditary neoplastic syndrome
  • p.Gly789= Multiple submitters gastrointestinal stromal tumor
  • p.Gly79= Multiple submitters hereditary neoplastic syndrome
  • p.Gly882= Multiple submitters hereditary neoplastic syndrome
  • p.Gly912= Multiple submitters gastrointestinal stromal tumor
  • p.His104= Multiple submitters hereditary neoplastic syndrome
  • p.His116= Multiple submitters hereditary neoplastic syndrome
  • p.His330= Multiple submitters hereditary neoplastic syndrome
  • p.His334= Multiple submitters gastrointestinal stromal tumor
  • p.His425= Multiple submitters gastrointestinal stromal tumor
  • p.His477= Multiple submitters hereditary neoplastic syndrome
  • p.His5= Multiple submitters hereditary neoplastic syndrome
  • p.His650= Multiple submitters hereditary neoplastic syndrome
  • p.His696= Multiple submitters hereditary neoplastic syndrome
  • p.His816= Multiple submitters hereditary neoplastic syndrome
  • p.His920= Multiple submitters gastrointestinal stromal tumor
  • p.His94= Multiple submitters gastrointestinal stromal tumor
  • p.His945= Multiple submitters hereditary neoplastic syndrome
  • p.His966= Multiple submitters hereditary neoplastic syndrome
  • p.His974= Multiple submitters gastrointestinal stromal tumor
  • p.Ile1050= Multiple submitters hereditary neoplastic syndrome
  • p.Ile1060= Multiple submitters gastrointestinal stromal tumor
  • p.Ile1070= Multiple submitters gastrointestinal stromal tumor
  • p.Ile139= Multiple submitters gastrointestinal stromal tumor
  • p.Ile269= Multiple submitters hereditary neoplastic syndrome
  • p.Ile307= Multiple submitters gastrointestinal stromal tumor
  • p.Ile357= Multiple submitters gastrointestinal stromal tumor
  • p.Ile363= Multiple submitters gastrointestinal stromal tumor
  • p.Ile373= Multiple submitters hereditary neoplastic syndrome
  • p.Ile382= Multiple submitters gastrointestinal stromal tumor
  • p.Ile445= Multiple submitters hereditary neoplastic syndrome
  • p.Ile497= Multiple submitters gastrointestinal stromal tumor
  • p.Ile573= Multiple submitters hereditary neoplastic syndrome
  • p.Ile647= Multiple submitters gastrointestinal stromal tumor
  • p.Ile670= Multiple submitters hereditary neoplastic syndrome
  • p.Ile707= Multiple submitters hereditary neoplastic syndrome
  • p.Ile722= Multiple submitters gastrointestinal stromal tumor
  • p.Ile757= Multiple submitters gastrointestinal stromal tumor
  • p.Ile867= Multiple submitters hereditary neoplastic syndrome
  • p.Ile888= Multiple submitters hereditary neoplastic syndrome
  • p.Ile909= Multiple submitters hereditary neoplastic syndrome
  • p.Leu1000= Multiple submitters gastrointestinal stromal tumor
  • p.Leu1022= Multiple submitters gastrointestinal stromal tumor
  • p.Leu1083= Multiple submitters gastrointestinal stromal tumor
  • p.Leu1089= Multiple submitters hereditary neoplastic syndrome
  • p.Leu112= Multiple submitters hereditary neoplastic syndrome
  • p.Leu131= Multiple submitters gastrointestinal stromal tumor
  • p.Leu161= Multiple submitters gastrointestinal stromal tumor
  • p.Leu20= Multiple submitters hereditary neoplastic syndrome
  • p.Leu208= Multiple submitters hereditary neoplastic syndrome
  • p.Leu245= Multiple submitters hereditary neoplastic syndrome
  • p.Leu261= Multiple submitters hereditary neoplastic syndrome
  • p.Leu27= Multiple submitters hereditary neoplastic syndrome
  • p.Leu31= Multiple submitters hereditary neoplastic syndrome
  • p.Leu324= Multiple submitters hereditary neoplastic syndrome
  • p.Leu360= Multiple submitters hereditary neoplastic syndrome
  • p.Leu379= Multiple submitters gastrointestinal stromal tumor
  • p.Leu41= Multiple submitters hereditary neoplastic syndrome
  • p.Leu420= Multiple submitters hereditary neoplastic syndrome
  • p.Leu442= Multiple submitters hereditary neoplastic syndrome
  • p.Leu465= Multiple submitters hereditary neoplastic syndrome
  • p.Leu534= Multiple submitters hereditary neoplastic syndrome
  • p.Leu535= Multiple submitters hereditary neoplastic syndrome
  • p.Leu545= Multiple submitters hereditary neoplastic syndrome
  • p.Leu580= Multiple submitters gastrointestinal stromal tumor
  • p.Leu629= Multiple submitters hereditary neoplastic syndrome
  • p.Leu651= Multiple submitters gastrointestinal stromal tumor
  • p.Leu660= Multiple submitters hereditary neoplastic syndrome
  • p.Leu694= Multiple submitters hereditary neoplastic syndrome
  • p.Leu710= Multiple submitters hereditary neoplastic syndrome
  • p.Leu723= Multiple submitters hereditary neoplastic syndrome
  • p.Leu746= Multiple submitters gastrointestinal stromal tumor
  • p.Leu793= Multiple submitters gastrointestinal stromal tumor
  • p.Leu80= Multiple submitters gastrointestinal stromal tumor
  • p.Leu825= Multiple submitters gastrointestinal stromal tumor
  • p.Leu839= Multiple submitters gastrointestinal stromal tumor
  • p.Leu875= Multiple submitters hereditary neoplastic syndrome
  • p.Leu884= Multiple submitters gastrointestinal stromal tumor
  • p.Leu885= Multiple submitters hereditary neoplastic syndrome
  • p.Leu946= Multiple submitters gastrointestinal stromal tumor
  • p.Leu954= Multiple submitters hereditary neoplastic syndrome
  • p.Leu97= Multiple submitters gastrointestinal stromal tumor
  • p.Lys1001= Multiple submitters hereditary neoplastic syndrome
  • p.Lys1036= Multiple submitters hereditary neoplastic syndrome
  • p.Lys222= Multiple submitters gastrointestinal stromal tumor
  • p.Lys226= Multiple submitters hereditary neoplastic syndrome
  • p.Lys254= Multiple submitters hereditary neoplastic syndrome
  • p.Lys256= Multiple submitters hereditary neoplastic syndrome
  • p.Lys283= Multiple submitters gastrointestinal stromal tumor
  • p.Lys300= Multiple submitters hereditary neoplastic syndrome
  • p.Lys351= Multiple submitters gastrointestinal stromal tumor
  • p.Lys378= Multiple submitters hereditary neoplastic syndrome
  • p.Lys380= Multiple submitters gastrointestinal stromal tumor
  • p.Lys454= Multiple submitters hereditary neoplastic syndrome
  • p.Lys623= Multiple submitters gastrointestinal stromal tumor
  • p.Lys700= Multiple submitters gastrointestinal stromal tumor
  • p.Lys749= Multiple submitters hereditary neoplastic syndrome
  • p.Lys833= Multiple submitters hereditary neoplastic syndrome
  • p.Lys860= Multiple submitters hereditary neoplastic syndrome
  • p.Lys908= Multiple submitters hereditary neoplastic syndrome
  • p.Lys917= Multiple submitters hereditary neoplastic syndrome
  • p.Lys939= Multiple submitters hereditary neoplastic syndrome
  • p.Lys999= Multiple submitters gastrointestinal stromal tumor
  • p.Phe1059= Multiple submitters gastrointestinal stromal tumor
  • p.Phe198= Multiple submitters hereditary neoplastic syndrome
  • p.Phe45= Multiple submitters hereditary neoplastic syndrome
  • p.Phe490= Multiple submitters hereditary neoplastic syndrome
  • p.Pro1023= Multiple submitters hereditary neoplastic syndrome
  • p.Pro130= Multiple submitters gastrointestinal stromal tumor
  • p.Pro155= Multiple submitters gastrointestinal stromal tumor
  • p.Pro158= Multiple submitters gastrointestinal stromal tumor
  • p.Pro186= Multiple submitters hereditary neoplastic syndrome
  • p.Pro202= Multiple submitters gastrointestinal stromal tumor
  • p.Pro28= Multiple submitters hereditary neoplastic syndrome
  • p.Pro345= Multiple submitters gastrointestinal stromal tumor
  • p.Pro441= Multiple submitters hereditary neoplastic syndrome
  • p.Pro553= Multiple submitters gastrointestinal stromal tumor
  • p.Pro567= Multiple submitters gastrointestinal stromal tumor
  • p.Pro653= Multiple submitters hereditary neoplastic syndrome
  • p.Pro698= Multiple submitters gastrointestinal stromal tumor
  • p.Pro765= Multiple submitters hereditary neoplastic syndrome
  • p.Pro858= Multiple submitters gastrointestinal stromal tumor
  • p.Pro941= Multiple submitters hereditary neoplastic syndrome
  • p.Ser1042= Multiple submitters hereditary neoplastic syndrome
  • p.Ser1057= Multiple submitters gastrointestinal stromal tumor
  • p.Ser1081= Multiple submitters gastrointestinal stromal tumor
  • p.Ser1087= Multiple submitters gastrointestinal stromal tumor
  • p.Ser164= Multiple submitters gastrointestinal stromal tumor
  • p.Ser19= Multiple submitters gastrointestinal stromal tumor
  • p.Ser212= Multiple submitters hereditary neoplastic syndrome
  • p.Ser227= Multiple submitters hereditary neoplastic syndrome
  • p.Ser26= Multiple submitters hereditary neoplastic syndrome
  • p.Ser268= Multiple submitters hereditary neoplastic syndrome
  • p.Ser268Thr Multiple submitters hereditary neoplastic syndrome
  • p.Ser285= Multiple submitters hereditary neoplastic syndrome
  • p.Ser308= Multiple submitters hereditary neoplastic syndrome
  • p.Ser4= Multiple submitters hereditary neoplastic syndrome
  • p.Ser415= Multiple submitters hereditary neoplastic syndrome
  • p.Ser43= Multiple submitters hereditary neoplastic syndrome
  • p.Ser44= Multiple submitters gastrointestinal stromal tumor
  • p.Ser523= Multiple submitters gastrointestinal stromal tumor
  • p.Ser616= Multiple submitters hereditary neoplastic syndrome
  • p.Ser62= Multiple submitters gastrointestinal stromal tumor
  • p.Ser695= Multiple submitters gastrointestinal stromal tumor
  • p.Ser719= Multiple submitters gastrointestinal stromal tumor
  • p.Ser755= Multiple submitters hereditary neoplastic syndrome
  • p.Ser767= Multiple submitters hereditary neoplastic syndrome
  • p.Ser776= Multiple submitters hereditary neoplastic syndrome
  • p.Ser78= Multiple submitters hereditary neoplastic syndrome
  • p.Ser787= Multiple submitters hereditary neoplastic syndrome
  • p.Ser797= Multiple submitters hereditary neoplastic syndrome
  • p.Ser851= Multiple submitters gastrointestinal stromal tumor
  • p.Ser91= Multiple submitters gastrointestinal stromal tumor
  • p.Ser942= Multiple submitters gastrointestinal stromal tumor
  • p.Ter1090= Multiple submitters hereditary neoplastic syndrome
  • p.Thr1058= Multiple submitters hereditary neoplastic syndrome
  • p.Thr107= Multiple submitters gastrointestinal stromal tumor
  • p.Thr134= Multiple submitters gastrointestinal stromal tumor
  • p.Thr152= Multiple submitters gastrointestinal stromal tumor
  • p.Thr153= Multiple submitters hereditary neoplastic syndrome
  • p.Thr160= Multiple submitters gastrointestinal stromal tumor
  • p.Thr181= Multiple submitters hereditary neoplastic syndrome

Uncertain significance 1971

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

  • c.1121+5A>G Multiple submitters hereditary neoplastic syndrome
  • c.1364+3A>G Multiple submitters hereditary neoplastic syndrome
  • c.1364+4T>C Multiple submitters gastrointestinal stromal tumor
  • c.1364+6G>T Multiple submitters polyps, multiple and recurrent inflammatory fibroid, gastrointestinal
  • c.2002+4G>A Multiple submitters hereditary neoplastic syndrome
  • c.2002+4G>T Multiple submitters hereditary neoplastic syndrome
  • c.2002+5G>T Multiple submitters hereditary neoplastic syndrome
  • c.2002+6C>T Multiple submitters gastrointestinal stromal tumor
  • c.2156+3G>C Multiple submitters hereditary neoplastic syndrome
  • c.2156+4G>C Multiple submitters hereditary neoplastic syndrome
  • c.2439+5G>T Multiple submitters gastrointestinal stromal tumor
  • c.2674+4T>C Multiple submitters gastrointestinal stromal tumor
  • c.2674+5G>T Multiple submitters hereditary neoplastic syndrome
  • c.2674+6G>A Multiple submitters gastrointestinal stromal tumor
  • c.2880+1G>A Multiple submitters hereditary neoplastic syndrome
  • c.2880+1GT[2] Multiple submitters hereditary neoplastic syndrome
  • c.2880+3G>A Multiple submitters gastrointestinal stromal tumor
  • c.2881-3T>C Multiple submitters gastrointestinal stromal tumor
  • c.3122+5C>T Multiple submitters hereditary neoplastic syndrome
  • c.367+3G>A Multiple submitters hereditary neoplastic syndrome
  • c.367+5G>A Multiple submitters gastrointestinal stromal tumor
  • c.49+1G>T Multiple submitters hereditary neoplastic syndrome
  • c.49+4C>T Multiple submitters hereditary neoplastic syndrome
  • c.628+3A>G Multiple submitters gastrointestinal stromal tumor
  • c.931+5A>C Multiple submitters gastrointestinal stromal tumor
  • c.*1971C>T Multiple submitters idiopathic hypereosinophilic syndrome
  • p.Ala1014Gly Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala1014Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala127Gly Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala146Asp Multiple submitters gastrointestinal stromal tumor ⚠
  • p.Ala146Pro Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala191Gly Multiple submitters gastrointestinal stromal tumor ⚠
  • p.Ala191Ser Multiple submitters gastrointestinal stromal tumor ⚠
  • p.Ala210Glu Multiple submitters PDGFRA-related disorder ⚠
  • p.Ala291Gly Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala291Thr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala292Gly Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala292Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala295Ser Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala326Ser Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala384Thr Multiple submitters gastrointestinal stromal tumor ⚠
  • p.Ala396Ser Multiple submitters gastrointestinal stromal tumor ⚠
  • p.Ala401Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala437Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala498Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala503Thr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala509Thr Multiple submitters gastrointestinal stromal tumor ⚠
  • p.Ala518Ser Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala518Thr Multiple submitters polyps, multiple and recurrent inflammatory fibroid, gastrointestinal ⚠
  • p.Ala528Thr Multiple submitters gastrointestinal stromal tumor ⚠
  • p.Ala529Ser Multiple submitters gastrointestinal stromal tumor ⚠
  • p.Ala529Thr Multiple submitters gastrointestinal stromal tumor ⚠
  • p.Ala529Val Multiple submitters gastrointestinal stromal tumor ⚠
  • p.Ala530Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala603Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala663Thr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala713Thr Multiple submitters gastrointestinal stromal tumor ⚠
  • p.Ala7Ser Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala827Glu Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala827Thr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala90Gly Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala90Thr Multiple submitters gastrointestinal stromal tumor ⚠
  • p.Ala916Asp Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala916Gly Multiple submitters gastrointestinal stromal tumor ⚠
  • p.Ala916Val Multiple submitters gastrointestinal stromal tumor ⚠
  • p.Ala93Val Multiple submitters gastrointestinal stromal tumor ⚠
  • p.Ala976Thr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala978Gly Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala978Ser Multiple submitters gastrointestinal stromal tumor ⚠
  • p.Ala987Thr Multiple submitters gastrointestinal stromal tumor ⚠
  • p.Arg1011fs Multiple submitters hereditary neoplastic syndrome
  • p.Arg1011Lys Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg1037Lys Multiple submitters gastrointestinal stromal tumor ⚠
  • p.Arg151Leu Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg346Gly Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg346Thr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg376Ter Multiple submitters hereditary neoplastic syndrome
  • p.Arg383His Multiple submitters gastrointestinal stromal tumor ⚠
  • p.Arg481Thr Multiple submitters gastrointestinal stromal tumor ⚠
  • p.Arg487Cys Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg487Ser Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg500Gln Multiple submitters gastrointestinal stromal tumor ⚠
  • p.Arg512Gln Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg512Ter Multiple submitters hereditary neoplastic syndrome
  • p.Arg554Met Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg558Cys Multiple submitters gastrointestinal stromal tumor ⚠
  • p.Arg558Ser Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg560Lys Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg560Met Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg597Gln Multiple submitters gastrointestinal stromal tumor ⚠
  • p.Arg597Trp Multiple submitters gastrointestinal stromal tumor ⚠
  • p.Arg617Gln Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg617Leu Multiple submitters gastrointestinal stromal tumor ⚠
  • p.Arg617Pro Multiple submitters polyps, multiple and recurrent inflammatory fibroid, gastrointestinal ⚠
  • p.Arg617Trp Multiple submitters polyps, multiple and recurrent inflammatory fibroid, gastrointestinal ⚠
  • p.Arg634Ser Multiple submitters gastrointestinal stromal tumor ⚠
  • p.Arg690Gly Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg690Lys Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg690Met Multiple submitters polyps, multiple and recurrent inflammatory fibroid, gastrointestinal ⚠
  • p.Arg690Thr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg718Gln Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg718Leu Multiple submitters gastrointestinal stromal tumor ⚠
  • p.Arg72Gly Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg759Lys Multiple submitters gastrointestinal stromal tumor ⚠
  • p.Arg764Cys Multiple submitters gastrointestinal stromal tumor ⚠
  • p.Arg764Ser Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg804Ter Multiple submitters hereditary neoplastic syndrome
  • p.Arg817Gly Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg817His Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg822Cys Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg822His Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg914Gln Multiple submitters gastrointestinal stromal tumor ⚠
  • p.Arg914Trp Multiple submitters gastrointestinal stromal tumor ⚠
  • p.Arg979Leu Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg981Cys Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg981Leu Multiple submitters gastrointestinal stromal tumor ⚠
  • p.Asn103_His104delinsLysAsn Multiple submitters polyps, multiple and recurrent inflammatory fibroid, gastrointestinal
  • p.Asn1038His Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asn1038Lys Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asn103Asp Multiple submitters gastrointestinal stromal tumor ⚠
  • p.Asn103His Multiple submitters gastrointestinal stromal tumor ⚠
  • p.Asn103Ser Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asn179Tyr Multiple submitters gastrointestinal stromal tumor ⚠
  • p.Asn204Asp Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asn204Ser Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asn240His Multiple submitters gastrointestinal stromal tumor ⚠
  • p.Asn457Ile Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asn457Tyr Multiple submitters gastrointestinal stromal tumor ⚠
  • p.Asn458Ser Multiple submitters gastrointestinal stromal tumor ⚠
  • p.Asn467Lys Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asn468Ser Multiple submitters gastrointestinal stromal tumor ⚠
  • p.Asn471Asp Multiple submitters gastrointestinal stromal tumor ⚠
  • p.Asn471Ser Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asn505Ser Multiple submitters gastrointestinal stromal tumor ⚠
  • p.Asn511Lys Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asn684His Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asn711Ser Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asn727Lys Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asn73Lys Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asn77Asp Multiple submitters gastrointestinal stromal tumor ⚠
  • p.Asn77Ser Multiple submitters polyps, multiple and recurrent inflammatory fibroid, gastrointestinal ⚠
  • p.Asn786Lys Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asn813His Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asn870Ser Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asn907Ser Multiple submitters gastrointestinal stromal tumor ⚠
  • p.Asn952Lys Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asn986Lys Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asn986Ser Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asn995Ser Multiple submitters gastrointestinal stromal tumor ⚠
  • p.Asp1002Tyr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asp1015Asn Multiple submitters gastrointestinal stromal tumor ⚠
  • p.Asp1026Gly Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asp1033Glu Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asp1064Asn Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asp1064Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asp1069Glu Multiple submitters gastrointestinal stromal tumor ⚠
  • p.Asp1074His Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asp1079Glu Multiple submitters polyps, multiple and recurrent inflammatory fibroid, gastrointestinal ⚠
  • p.Asp1086Glu Multiple submitters gastrointestinal stromal tumor ⚠
  • p.Asp1086Tyr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asp125Ala Multiple submitters gastrointestinal stromal tumor ⚠
  • p.Asp125His Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asp125Tyr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asp135Gly Multiple submitters polyps, multiple and recurrent inflammatory fibroid, gastrointestinal ⚠
  • p.Asp142His Multiple submitters gastrointestinal stromal tumor ⚠
  • p.Asp142Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asp143Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asp144Tyr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asp144Val Multiple submitters polyps, multiple and recurrent inflammatory fibroid, gastrointestinal ⚠
  • p.Asp154Gly Multiple submitters polyps, multiple and recurrent inflammatory fibroid, gastrointestinal ⚠
  • p.Asp244Asn Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asp287Asn Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asp287Gly Multiple submitters gastrointestinal stromal tumor ⚠
  • p.Asp366Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asp388Asn Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asp400Gly Multiple submitters gastrointestinal stromal tumor ⚠
  • p.Asp419Glu Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asp422Asn Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asp423Asn Multiple submitters gastrointestinal stromal tumor ⚠
  • p.Asp444Asn Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asp452Tyr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asp480Asn Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asp583Gly Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asp591Asn Multiple submitters gastrointestinal stromal tumor ⚠
  • p.Asp706Gly Multiple submitters gastrointestinal stromal tumor ⚠
  • p.Asp706Tyr Multiple submitters polyps, multiple and recurrent inflammatory fibroid, gastrointestinal ⚠
  • p.Asp714Val Multiple submitters gastrointestinal stromal tumor ⚠
  • p.Asp733Asn Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asp738Asn Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asp738His Multiple submitters gastrointestinal stromal tumor ⚠
  • p.Asp756Tyr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asp763Asn Multiple submitters gastrointestinal stromal tumor ⚠
  • p.Asp763His Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asp775Gly Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asp784Tyr Multiple submitters gastrointestinal stromal tumor ⚠
  • p.Asp785Gly Multiple submitters gastrointestinal stromal tumor ⚠
  • p.Asp785Val Multiple submitters gastrointestinal stromal tumor ⚠
  • p.Asp794Asn Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asp794Gly Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asp794His Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asp846Asn Multiple submitters gastrointestinal stromal tumor ⚠
  • p.Asp869Asn Multiple submitters gastrointestinal stromal tumor ⚠
  • p.Asp968Asn Multiple submitters gastrointestinal stromal tumor ⚠
  • p.Asp968His Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asp973Glu Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asp983Tyr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asp985Asn Multiple submitters PDGFRA-related disorder ⚠
  • p.Asp998Asn Multiple submitters polyps, multiple and recurrent inflammatory fibroid, gastrointestinal ⚠
  • p.Asp998His Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Cys150Arg Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Cys49Arg Multiple submitters polyps, multiple and recurrent inflammatory fibroid, gastrointestinal ⚠
  • p.Gln1010Glu Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Gln1010His Multiple submitters idiopathic hypereosinophilic syndrome ⚠
  • p.Gln1043Arg Multiple submitters polyps, multiple and recurrent inflammatory fibroid, gastrointestinal ⚠
  • p.Gln106His Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Gln176fs Multiple submitters hereditary neoplastic syndrome
  • p.Gln397Glu Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Gln40Arg Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Gln551Glu Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Gln551Lys Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Gln579Arg Multiple submitters polyps, multiple and recurrent inflammatory fibroid, gastrointestinal ⚠
  • p.Gln619Arg Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Gln736Pro Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Gln741Arg Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Gln741Pro Multiple submitters gastrointestinal stromal tumor ⚠
  • p.Gln758His Multiple submitters gastrointestinal stromal tumor ⚠
  • p.Gln957Arg Multiple submitters gastrointestinal stromal tumor ⚠
  • p.Glu1031Lys Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Glu1047Asp Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Glu1063Gly Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Glu111Gly Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Glu113Lys Multiple submitters gastrointestinal stromal tumor ⚠
  • p.Glu141Asp Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Glu190Lys Multiple submitters polyps, multiple and recurrent inflammatory fibroid, gastrointestinal ⚠
  • p.Glu213Asp Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Glu219Asp Multiple submitters gastrointestinal stromal tumor ⚠
  • p.Glu219Gln Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Glu229Gln Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Glu241Lys Multiple submitters polyps, multiple and recurrent inflammatory fibroid, gastrointestinal ⚠
  • p.Glu252Val Multiple submitters gastrointestinal stromal tumor ⚠
  • p.Glu262Lys Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Glu289Gln Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Glu289Lys Multiple submitters gastrointestinal stromal tumor ⚠
  • p.Glu311Ala Multiple submitters gastrointestinal stromal tumor ⚠
  • p.Glu311Asp Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Glu34Ala Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Glu358Ala Multiple submitters gastrointestinal stromal tumor ⚠
  • p.Glu358Lys Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Glu368Gln Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Glu368Lys Multiple submitters polyps, multiple and recurrent inflammatory fibroid, gastrointestinal ⚠
  • p.Glu386Gly Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Glu387Gln Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Glu399Asp Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Glu408Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Glu446Gly Multiple submitters gastrointestinal stromal tumor ⚠
  • p.Glu446Lys Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Glu510Asp Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Glu513Lys Multiple submitters gastrointestinal stromal tumor ⚠
  • p.Glu556Asp Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Glu563Asp Multiple submitters gastrointestinal stromal tumor ⚠
  • p.Glu63Asp Multiple submitters gastrointestinal stromal tumor ⚠
  • p.Glu65Gly Multiple submitters gastrointestinal stromal tumor ⚠
  • p.Glu65Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Glu675Asp Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Glu70Asp Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Glu747Asp Multiple submitters gastrointestinal stromal tumor ⚠
  • p.Glu750Lys Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Glu75Gln Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Glu788Lys Multiple submitters gastrointestinal stromal tumor ⚠
  • p.Glu86Ala Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Glu86Lys Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Glu927Lys Multiple submitters polyps, multiple and recurrent inflammatory fibroid, gastrointestinal ⚠
  • p.Glu963Asp Multiple submitters gastrointestinal stromal tumor ⚠
  • p.Glu996Lys Multiple submitters gastrointestinal stromal tumor ⚠
  • p.Glu997del Multiple submitters PDGFRA-related disorder
  • p.Glu997Lys Multiple submitters polyps, multiple and recurrent inflammatory fibroid, gastrointestinal ⚠
  • p.Gly1006Cys Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Gly1053Ser Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Gly1077Asp Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Gly114Ala Multiple submitters gastrointestinal stromal tumor ⚠
  • p.Gly166Glu Multiple submitters gastrointestinal stromal tumor ⚠
  • p.Gly185Arg Multiple submitters gastrointestinal stromal tumor ⚠
  • p.Gly251Ala Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Gly251Glu Multiple submitters gastrointestinal stromal tumor ⚠
  • p.Gly255Ala Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Gly255Ser Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Gly257Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Gly2Arg Multiple submitters gastrointestinal stromal tumor ⚠
  • p.Gly2Glu Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Gly313Ala Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Gly313Cys Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Gly430Arg Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Gly486Ser Multiple submitters gastrointestinal stromal tumor ⚠
  • p.Gly51Ala Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Gly614Arg Multiple submitters gastrointestinal stromal tumor ⚠
  • p.Gly729Asp Multiple submitters polyps, multiple and recurrent inflammatory fibroid, gastrointestinal ⚠
  • p.Gly729Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Gly789Asp Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Gly79Val Multiple submitters gastrointestinal stromal tumor ⚠
  • p.Gly853Asp Multiple submitters hereditary neoplastic syndrome ⚠