Sugi Variant

Sugi Variant/RAD50

RAD50 — 4612 ClinVar variants

All ClinVar germline RAD50 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 2458 flagged for review →

273 Pathogenic · 77 Pathogenic/Likely pathogenic · 109 Likely pathogenic · 158 Conflicting · 65 Benign · 36 Benign/Likely benign · 1242 Likely benign · 2652 Uncertain significance

Full RAD50 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 2458

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 2

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

Predictors agree, ClinVar conflicts 73

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

Predictors lean, ClinVar uncertain 1871

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 1871

Predictors split 512

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 512

All RAD50 variants

Pathogenic 273

  • c.129+1del Multiple submitters hereditary neoplastic syndrome
  • c.1970-1_1972dup Multiple submitters hereditary neoplastic syndrome
  • p.Ala134fs Multiple submitters hereditary neoplastic syndrome
  • p.Arg1148fs Multiple submitters hereditary neoplastic syndrome
  • p.Arg278Ter Multiple submitters hereditary neoplastic syndrome
  • p.Arg365Ter Multiple submitters Nijmegen breakage syndrome-like disorder
  • p.Arg401Ter Multiple submitters hereditary neoplastic syndrome
  • p.Arg686fs Multiple submitters hereditary neoplastic syndrome
  • p.Arg903fs Multiple submitters hereditary neoplastic syndrome
  • p.Asn152Ter Multiple submitters hereditary neoplastic syndrome
  • p.Asn412fs Multiple submitters hereditary neoplastic syndrome
  • p.Asn931fs Multiple submitters hereditary neoplastic syndrome
  • p.Asn981Ter Multiple submitters hereditary neoplastic syndrome
  • p.Asp515fs Multiple submitters hereditary neoplastic syndrome
  • p.Asp967fs Multiple submitters hereditary neoplastic syndrome
  • p.Cys157Ter Multiple submitters hereditary neoplastic syndrome
  • p.Gln1014Ter Multiple submitters hereditary neoplastic syndrome
  • p.Gln350Ter Multiple submitters hereditary neoplastic syndrome
  • p.Gln392fs Multiple submitters hereditary neoplastic syndrome
  • p.Gln392Ter Multiple submitters hereditary neoplastic syndrome
  • p.Gln428fs Multiple submitters hereditary neoplastic syndrome
  • p.Gln537Ter Multiple submitters hereditary neoplastic syndrome
  • p.Gln655Ter Multiple submitters hereditary neoplastic syndrome
  • p.Gln672Ter Multiple submitters hereditary neoplastic syndrome
  • p.Gln737Ter Multiple submitters hereditary neoplastic syndrome
  • p.Gln762Ter Multiple submitters hereditary neoplastic syndrome
  • p.Gln799Ter Multiple submitters hereditary neoplastic syndrome
  • p.Gln857Ter Multiple submitters hereditary neoplastic syndrome
  • p.Gln924Ter Multiple submitters Nijmegen breakage syndrome-like disorder
  • p.Gln97Ter Multiple submitters hereditary neoplastic syndrome
  • p.Glu1035Ter Multiple submitters hereditary neoplastic syndrome
  • p.Glu1164fs Multiple submitters hereditary neoplastic syndrome
  • p.Glu1219Ter Multiple submitters hereditary neoplastic syndrome
  • p.Glu139Ter Multiple submitters hereditary neoplastic syndrome
  • p.Glu239fs Multiple submitters hereditary neoplastic syndrome
  • p.Glu302Ter Multiple submitters hereditary neoplastic syndrome
  • p.Glu390fs Multiple submitters hereditary neoplastic syndrome
  • p.Glu431fs Multiple submitters hereditary neoplastic syndrome
  • p.Glu456Ter Multiple submitters hereditary neoplastic syndrome
  • p.Glu696Ter Multiple submitters hereditary neoplastic syndrome
  • p.Glu869Ter Multiple submitters hereditary neoplastic syndrome
  • p.Glu977fs Multiple submitters hereditary neoplastic syndrome
  • p.Glu979_Leu980insTer Multiple submitters hereditary neoplastic syndrome
  • p.Glu995fs Multiple submitters hereditary neoplastic syndrome
  • p.Gly200fs Multiple submitters hereditary neoplastic syndrome
  • p.Gly438fs Multiple submitters hereditary neoplastic syndrome
  • p.Ile25fs Multiple submitters hereditary neoplastic syndrome
  • p.Ile272fs Multiple submitters hereditary neoplastic syndrome
  • p.Ile429fs Multiple submitters hereditary neoplastic syndrome
  • p.Ile52fs Multiple submitters hereditary neoplastic syndrome
  • p.Ile846fs Multiple submitters hereditary neoplastic syndrome
  • p.Leu1022_Thr1023insTer Multiple submitters hereditary neoplastic syndrome
  • p.Leu1217fs Multiple submitters hereditary neoplastic syndrome
  • p.Leu262_Ser263insTer Multiple submitters hereditary neoplastic syndrome
  • p.Leu307fs Multiple submitters hereditary neoplastic syndrome
  • p.Leu754fs Multiple submitters hereditary neoplastic syndrome
  • p.Leu915fs Multiple submitters hereditary neoplastic syndrome
  • p.Lys230fs Multiple submitters hereditary neoplastic syndrome
  • p.Lys334fs Multiple submitters hereditary neoplastic syndrome
  • p.Lys398fs Multiple submitters hereditary neoplastic syndrome
  • p.Lys436delinsArgTer Multiple submitters hereditary neoplastic syndrome
  • p.Lys545Ter Multiple submitters hereditary neoplastic syndrome
  • p.Lys722fs Multiple submitters hereditary neoplastic syndrome
  • p.Lys874Ter Multiple submitters hereditary neoplastic syndrome
  • p.Lys994fs Multiple submitters hereditary neoplastic syndrome
  • p.Phe418fs Multiple submitters hereditary neoplastic syndrome
  • p.Ser1176fs Multiple submitters hereditary neoplastic syndrome
  • p.Ser451fs Multiple submitters hereditary neoplastic syndrome
  • p.Ser653Ter Multiple submitters hereditary neoplastic syndrome
  • p.Thr1023_Leu1024insTer Multiple submitters hereditary neoplastic syndrome
  • p.Thr119fs Multiple submitters hereditary neoplastic syndrome
  • p.Thr690fs Multiple submitters hereditary neoplastic syndrome
  • p.Trp579Ter Multiple submitters hereditary neoplastic syndrome
  • p.Tyr569fs Multiple submitters hereditary neoplastic syndrome
  • c.1636-1G>A Single submitter hereditary neoplastic syndrome
  • p.Thr1154fs Single submitter hereditary neoplastic syndrome
  • c.551+1dup Single submitter hereditary neoplastic syndrome
  • p.Ala1194fs Single submitter hereditary neoplastic syndrome
  • p.Ala664fs Single submitter hereditary neoplastic syndrome
  • p.Ala814fs Single submitter hereditary neoplastic syndrome
  • p.Arg1027fs Single submitter hereditary neoplastic syndrome
  • p.Arg1093fs Single submitter hereditary neoplastic syndrome
  • p.Arg1198fs Single submitter hereditary neoplastic syndrome
  • p.Arg193fs Single submitter hereditary neoplastic syndrome
  • p.Arg278fs Single submitter hereditary neoplastic syndrome
  • p.Arg617fs Single submitter hereditary neoplastic syndrome
  • p.Arg87fs Single submitter hereditary neoplastic syndrome
  • p.Asn1072fs Single submitter hereditary neoplastic syndrome
  • p.Asn1144fs Single submitter hereditary neoplastic syndrome
  • p.Asn1224fs Single submitter hereditary neoplastic syndrome
  • p.Asn1236fs Single submitter hereditary neoplastic syndrome
  • p.Asn1261Ter Single submitter hereditary neoplastic syndrome
  • p.Asn340fs Single submitter hereditary neoplastic syndrome
  • p.Asn459fs Single submitter hereditary neoplastic syndrome
  • p.Asn529_His530insTer Single submitter hereditary neoplastic syndrome
  • p.Asn607fs Single submitter hereditary neoplastic syndrome
  • p.Asn609fs Single submitter hereditary neoplastic syndrome
  • p.Asn752fs Single submitter hereditary neoplastic syndrome
  • p.Asn849delinsArgProGlyAlaValAlaHisAlaCysAsnProSerThrLeuGlyGlyArgGlyGlyTrpIleMetArgSerArgAspArgAspHisProGlyTer Single submitter hereditary neoplastic syndrome
  • p.Asn981fs Single submitter hereditary neoplastic syndrome
  • p.Asp1099fs Single submitter hereditary neoplastic syndrome
  • p.Asp1122fs Single submitter hereditary neoplastic syndrome
  • p.Asp137fs Single submitter hereditary neoplastic syndrome
  • p.Asp478fs Single submitter hereditary neoplastic syndrome
  • p.Asp592fs Single submitter hereditary neoplastic syndrome
  • p.Asp643fs Single submitter hereditary neoplastic syndrome
  • p.Asp767fs Single submitter hereditary neoplastic syndrome
  • p.Asp791fs Single submitter hereditary neoplastic syndrome
  • p.Cys157fs Single submitter hereditary neoplastic syndrome
  • p.Cys48fs Single submitter hereditary neoplastic syndrome
  • p.Cys680fs Single submitter hereditary neoplastic syndrome
  • p.Cys681Ter Single submitter hereditary neoplastic syndrome
  • p.Cys788fs Single submitter hereditary neoplastic syndrome
  • p.Gln1011Ter Single submitter hereditary neoplastic syndrome
  • p.Gln1019fs Single submitter hereditary neoplastic syndrome
  • p.Gln1019Ter Single submitter hereditary neoplastic syndrome
  • p.Gln1040fs Single submitter hereditary neoplastic syndrome
  • p.Gln1263Ter Single submitter hereditary neoplastic syndrome
  • p.Gln201Ter Single submitter hereditary neoplastic syndrome
  • p.Gln215_Tyr216insTer Single submitter hereditary neoplastic syndrome
  • p.Gln215Ter Single submitter hereditary neoplastic syndrome
  • p.Gln312Ter Single submitter hereditary neoplastic syndrome
  • p.Gln354Ter Single submitter hereditary neoplastic syndrome
  • p.Gln361Ter Single submitter hereditary neoplastic syndrome
  • p.Gln404Ter Single submitter hereditary neoplastic syndrome
  • p.Gln465_Gln466delinsHisTer Single submitter hereditary neoplastic syndrome
  • p.Gln465fs Single submitter hereditary neoplastic syndrome
  • p.Gln479fs Single submitter hereditary neoplastic syndrome
  • p.Gln527Ter Single submitter hereditary neoplastic syndrome
  • p.Gln551fs Single submitter hereditary neoplastic syndrome
  • p.Gln575Ter Single submitter hereditary neoplastic syndrome
  • p.Gln589Ter Single submitter hereditary neoplastic syndrome
  • p.Gln621Ter Single submitter hereditary neoplastic syndrome
  • p.Gln678fs Single submitter hereditary neoplastic syndrome
  • p.Gln695fs Single submitter hereditary neoplastic syndrome
  • p.Gln695Ter Single submitter hereditary neoplastic syndrome
  • p.Gln702fs Single submitter hereditary neoplastic syndrome
  • p.Gln771Ter Single submitter hereditary neoplastic syndrome
  • p.Gln812fs Single submitter hereditary neoplastic syndrome
  • p.Gln817Ter Single submitter hereditary neoplastic syndrome
  • p.Gln826Ter Single submitter hereditary neoplastic syndrome
  • p.Gln861Ter Single submitter hereditary neoplastic syndrome
  • p.Gln876fs Single submitter hereditary neoplastic syndrome
  • p.Gln885Ter Single submitter hereditary neoplastic syndrome
  • p.Gln890Ter Single submitter hereditary neoplastic syndrome
  • p.Gln911_Val912insTer Single submitter hereditary neoplastic syndrome
  • p.Gln923fs Single submitter hereditary neoplastic syndrome
  • p.Gln986Ter Single submitter hereditary neoplastic syndrome
  • p.Glu1033fs Single submitter hereditary neoplastic syndrome
  • p.Glu1033Ter Single submitter hereditary neoplastic syndrome
  • p.Glu1091fs Single submitter hereditary neoplastic syndrome
  • p.Glu1091Ter Single submitter hereditary neoplastic syndrome
  • p.Glu1101Ter Single submitter hereditary neoplastic syndrome
  • p.Glu110fs Single submitter hereditary neoplastic syndrome
  • p.Glu1161fs Single submitter hereditary neoplastic syndrome
  • p.Glu18Ter Single submitter hereditary neoplastic syndrome
  • p.Glu402fs Single submitter hereditary neoplastic syndrome
  • p.Glu405Ter Single submitter hereditary neoplastic syndrome
  • p.Glu422fs Single submitter hereditary neoplastic syndrome
  • p.Glu444fs Single submitter hereditary neoplastic syndrome
  • p.Glu487fs Single submitter hereditary neoplastic syndrome
  • p.Glu503Ter Single submitter hereditary neoplastic syndrome
  • p.Glu526Ter Single submitter hereditary neoplastic syndrome
  • p.Glu586Ter Single submitter hereditary neoplastic syndrome
  • p.Glu605Ter Single submitter hereditary neoplastic syndrome
  • p.Glu614_Leu615insTer Single submitter hereditary neoplastic syndrome
  • p.Glu619fs Single submitter hereditary neoplastic syndrome
  • p.Glu647fs Single submitter hereditary neoplastic syndrome
  • p.Glu691fs Single submitter hereditary neoplastic syndrome
  • p.Glu693fs Single submitter Nijmegen breakage syndrome-like disorder
  • p.Glu716Ter Single submitter hereditary neoplastic syndrome
  • p.Glu75Ter Single submitter hereditary neoplastic syndrome
  • p.Glu781fs Single submitter hereditary neoplastic syndrome
  • p.Glu796Ter Single submitter hereditary neoplastic syndrome
  • p.Glu928fs Single submitter hereditary neoplastic syndrome
  • p.Glu977Ter Single submitter hereditary neoplastic syndrome
  • p.Gly1080fs Single submitter hereditary neoplastic syndrome
  • p.Gly956_Tyr957insGluLeuAlaValSerArgAspCysAlaThrAlaValArgSerProAlaTrpAlaThrGluArgAspSerValSerLysLysLysLysLysLysLysLysXaaXaaXaaXaaLysLysLysLysLysLysLysAsnIleHisGly Single submitter hereditary neoplastic syndrome
  • p.His158fs Single submitter hereditary neoplastic syndrome
  • p.His397fs Single submitter hereditary neoplastic syndrome
  • p.His993fs Single submitter hereditary neoplastic syndrome
  • p.Ile1165fs Single submitter hereditary neoplastic syndrome
  • p.Ile24fs Single submitter hereditary neoplastic syndrome
  • p.Ile371fs Single submitter hereditary neoplastic syndrome
  • p.Ile474fs Single submitter hereditary neoplastic syndrome
  • p.Ile482fs Single submitter hereditary neoplastic syndrome
  • p.Ile505fs Single submitter hereditary neoplastic syndrome
  • p.Ile947fs Single submitter hereditary neoplastic syndrome
  • p.Ile954fs Single submitter hereditary neoplastic syndrome
  • p.Ile984fs Single submitter hereditary neoplastic syndrome
  • p.Leu1060Ter Single submitter hereditary neoplastic syndrome
  • p.Leu1237fs Single submitter hereditary neoplastic syndrome
  • p.Leu166Ter Single submitter hereditary neoplastic syndrome
  • p.Leu210fs Single submitter hereditary neoplastic syndrome
  • p.Leu234Ter Single submitter hereditary neoplastic syndrome
  • p.Leu322fs Single submitter hereditary neoplastic syndrome
  • p.Leu464fs Single submitter hereditary neoplastic syndrome
  • p.Leu528Ter Single submitter hereditary neoplastic syndrome
  • p.Leu563Ter Single submitter hereditary neoplastic syndrome
  • p.Leu839Ter Single submitter hereditary neoplastic syndrome
  • p.Leu881fs Single submitter hereditary neoplastic syndrome
  • p.Leu929fs Single submitter hereditary neoplastic syndrome
  • p.Leu944fs Single submitter hereditary neoplastic syndrome
  • p.Lys1054Ter Single submitter hereditary neoplastic syndrome
  • p.Lys1059fs Single submitter hereditary neoplastic syndrome
  • p.Lys1059Ter Single submitter hereditary neoplastic syndrome
  • p.Lys1079fs Single submitter hereditary neoplastic syndrome
  • p.Lys1089fs Single submitter hereditary neoplastic syndrome
  • p.Lys204Ter Single submitter hereditary neoplastic syndrome
  • p.Lys256fs Single submitter hereditary neoplastic syndrome
  • p.Lys267fs Single submitter hereditary neoplastic syndrome
  • p.Lys284_Asp285insTer Single submitter hereditary neoplastic syndrome
  • p.Lys427fs Single submitter
  • p.Lys50Ter Single submitter hereditary neoplastic syndrome
  • p.Lys583Ter Single submitter hereditary neoplastic syndrome
  • p.Lys646fs Single submitter hereditary neoplastic syndrome
  • p.Lys651fs Single submitter hereditary neoplastic syndrome
  • p.Lys6fs Single submitter hereditary neoplastic syndrome
  • p.Lys71fs Single submitter hereditary neoplastic syndrome
  • p.Lys743Ter Single submitter hereditary neoplastic syndrome
  • p.Lys745fs Single submitter hereditary neoplastic syndrome
  • p.Lys753fs Single submitter hereditary neoplastic syndrome
  • p.Lys803Ter Single submitter hereditary neoplastic syndrome
  • p.Lys815fs Single submitter hereditary neoplastic syndrome
  • p.Lys815Ter Single submitter hereditary neoplastic syndrome
  • p.Lys835Ter Single submitter hereditary neoplastic syndrome
  • p.Lys871fs Single submitter hereditary neoplastic syndrome
  • p.Lys921fs Single submitter hereditary neoplastic syndrome
  • p.Lys933Ter Single submitter hereditary neoplastic syndrome
  • p.Lys948delinsTyrTer Single submitter hereditary neoplastic syndrome
  • p.Lys959fs Single submitter hereditary neoplastic syndrome
  • p.Lys973Ter Single submitter hereditary neoplastic syndrome
  • p.Lys982_Val983insTer Single submitter hereditary neoplastic syndrome
  • p.Lys982delinsAsnTer Single submitter hereditary neoplastic syndrome
  • p.Lys982fs Single submitter hereditary neoplastic syndrome
  • p.Met282fs Single submitter hereditary neoplastic syndrome
  • p.Met293fs Single submitter hereditary neoplastic syndrome
  • p.Met502fs Single submitter hereditary neoplastic syndrome
  • p.Phe1262Ter Single submitter hereditary neoplastic syndrome
  • p.Phe15fs Single submitter hereditary neoplastic syndrome
  • p.Phe27fs Single submitter hereditary neoplastic syndrome
  • p.Phe570fs Single submitter hereditary neoplastic syndrome
  • p.Pro165_Leu166insTer Single submitter hereditary neoplastic syndrome
  • p.Pro250fs Single submitter hereditary neoplastic syndrome
  • p.Pro387fs Single submitter hereditary neoplastic syndrome
  • p.Ser1153fs Single submitter hereditary neoplastic syndrome
  • p.Ser1174Ter Single submitter hereditary neoplastic syndrome
  • p.Ser142fs Single submitter hereditary neoplastic syndrome
  • p.Ser14fs Single submitter hereditary neoplastic syndrome
  • p.Ser369Ter Single submitter hereditary neoplastic syndrome
  • p.Ser447Ter Single submitter hereditary neoplastic syndrome
  • p.Ser471Ter Single submitter hereditary neoplastic syndrome
  • p.Ser584Ter Single submitter hereditary neoplastic syndrome
  • p.Ser667fs Single submitter hereditary neoplastic syndrome
  • p.Thr1010fs Single submitter hereditary neoplastic syndrome
  • p.Thr1154fs Single submitter hereditary neoplastic syndrome
  • p.Thr300fs Single submitter hereditary neoplastic syndrome
  • p.Thr44fs Single submitter hereditary neoplastic syndrome
  • p.Thr499fs Single submitter hereditary neoplastic syndrome
  • p.Thr536fs Single submitter hereditary neoplastic syndrome
  • p.Thr61fs Single submitter hereditary neoplastic syndrome
  • p.Thr896fs Single submitter hereditary neoplastic syndrome
  • p.Trp164Ter Single submitter hereditary neoplastic syndrome
  • p.Tyr1124fs Single submitter hereditary neoplastic syndrome
  • p.Tyr185Ter Single submitter hereditary neoplastic syndrome
  • p.Tyr308fs Single submitter hereditary neoplastic syndrome
  • p.Tyr51Ter Single submitter hereditary neoplastic syndrome
  • p.Tyr902Ter Single submitter hereditary neoplastic syndrome
  • p.Tyr957fs Single submitter hereditary neoplastic syndrome
  • p.Val127fs Single submitter hereditary neoplastic syndrome
  • p.Val146fs Single submitter hereditary neoplastic syndrome
  • p.Val892fs Single submitter hereditary neoplastic syndrome
  • p.Val842Ile No assertion criteria Nijmegen breakage syndrome-like disorder ⚠

Pathogenic/Likely pathogenic 77

  • c.1052-1G>T Multiple submitters hereditary neoplastic syndrome
  • c.1245+1G>A Multiple submitters hereditary neoplastic syndrome
  • c.1636-2A>G Multiple submitters hereditary neoplastic syndrome
  • c.1794-1G>A Multiple submitters hereditary neoplastic syndrome
  • c.1794-1G>T Multiple submitters hereditary neoplastic syndrome
  • c.1969+1G>A Multiple submitters hereditary neoplastic syndrome
  • c.213+1G>T Multiple submitters hereditary neoplastic syndrome
  • c.3389+1G>A Multiple submitters RAD50-related disorder
  • c.3475+2T>C Multiple submitters hereditary neoplastic syndrome
  • c.551+2T>C Multiple submitters hereditary neoplastic syndrome
  • c.552-1G>A Multiple submitters Nijmegen breakage syndrome-like disorder
  • c.756+2T>C Multiple submitters hereditary neoplastic syndrome
  • c.756+2T>G Multiple submitters hereditary neoplastic syndrome
  • p.Ala188fs Multiple submitters hereditary neoplastic syndrome
  • p.Arg1077Ter Multiple submitters hereditary neoplastic syndrome
  • p.Arg1093Ter Multiple submitters RAD50-related disorder
  • p.Arg1152Ter Multiple submitters hereditary neoplastic syndrome
  • p.Arg1185Ter Multiple submitters RAD50-related disorder
  • p.Arg1198Ter Multiple submitters hereditary neoplastic syndrome
  • p.Arg1200Ter Multiple submitters hereditary neoplastic syndrome
  • p.Arg1239Ter Multiple submitters hereditary neoplastic syndrome
  • p.Arg138Ter Multiple submitters RAD50-related disorder
  • p.Arg593Ter Multiple submitters hereditary neoplastic syndrome
  • p.Arg656Ter Multiple submitters hereditary neoplastic syndrome
  • p.Arg706Ter Multiple submitters RAD50-related disorder
  • p.Arg823Ter Multiple submitters hereditary neoplastic syndrome
  • p.Asn1070fs Multiple submitters hereditary neoplastic syndrome
  • p.Asn1118fs Multiple submitters hereditary neoplastic syndrome
  • p.Asn333fs Multiple submitters hereditary neoplastic syndrome
  • p.Asn934fs Multiple submitters hereditary neoplastic syndrome
  • p.Asp1159fs Multiple submitters hereditary neoplastic syndrome
  • p.Asp21fs Multiple submitters hereditary neoplastic syndrome
  • p.Asp434fs Multiple submitters Nijmegen breakage syndrome-like disorder
  • p.Asp840fs Multiple submitters hereditary neoplastic syndrome
  • p.Gln159Ter Multiple submitters hereditary neoplastic syndrome
  • p.Gln226Ter Multiple submitters hereditary neoplastic syndrome
  • p.Gln372Ter Multiple submitters hereditary neoplastic syndrome
  • p.Gln404fs Multiple submitters hereditary neoplastic syndrome
  • p.Gln413fs Multiple submitters hereditary neoplastic syndrome
  • p.Gln413Ter Multiple submitters hereditary neoplastic syndrome
  • p.Gln454Ter Multiple submitters hereditary neoplastic syndrome
  • p.Gln465Ter Multiple submitters RAD50-related disorder
  • p.Gln479Ter Multiple submitters hereditary neoplastic syndrome
  • p.Gln575fs Multiple submitters hereditary neoplastic syndrome
  • p.Gln755Ter Multiple submitters hereditary neoplastic syndrome
  • p.Gln833fs Multiple submitters hereditary neoplastic syndrome
  • p.Gln923Ter Multiple submitters Nijmegen breakage syndrome-like disorder
  • p.Gln941Ter Multiple submitters hereditary neoplastic syndrome
  • p.Glu47Ter Multiple submitters hereditary neoplastic syndrome
  • p.Glu676Ter Multiple submitters hereditary neoplastic syndrome
  • p.Glu772fs Multiple submitters hereditary neoplastic syndrome
  • p.Glu962Ter Multiple submitters hereditary neoplastic syndrome
  • p.Glu979fs Multiple submitters hereditary breast ovarian cancer syndrome
  • p.Gly731Ter Multiple submitters hereditary neoplastic syndrome
  • p.Ile930fs Multiple submitters hereditary neoplastic syndrome
  • p.Ile94fs Multiple submitters Nijmegen breakage syndrome-like disorder
  • p.Leu1264_Leu1265insTer Multiple submitters hereditary neoplastic syndrome
  • p.Leu424fs Multiple submitters hereditary neoplastic syndrome
  • p.Leu457fs Multiple submitters hereditary neoplastic syndrome
  • p.Leu541fs Multiple submitters Nijmegen breakage syndrome-like disorder
  • p.Leu705delinsGlnTer Multiple submitters Nijmegen breakage syndrome-like disorder
  • p.Lys132fs Multiple submitters hereditary neoplastic syndrome
  • p.Lys132Ter Multiple submitters hereditary neoplastic syndrome
  • p.Lys421fs Multiple submitters hereditary neoplastic syndrome
  • p.Lys461Ter Multiple submitters RAD50-related disorder
  • p.Lys909Ter Multiple submitters hereditary neoplastic syndrome
  • p.Lys982Ter Multiple submitters hereditary neoplastic syndrome
  • p.Lys994Ter Multiple submitters hereditary neoplastic syndrome
  • p.Met1Ile Multiple submitters hereditary neoplastic syndrome
  • p.Pro734_Met735insTer Multiple submitters hereditary neoplastic syndrome
  • p.Ser243_Tyr244insTer Multiple submitters hereditary neoplastic syndrome
  • p.Ser470fs Multiple submitters RAD50-related disorder
  • p.Thr437fs Multiple submitters Nijmegen breakage syndrome-like disorder
  • p.Thr65fs Multiple submitters hereditary neoplastic syndrome
  • p.Trp1017Ter Multiple submitters hereditary neoplastic syndrome
  • p.Tyr1124Ter Multiple submitters Nijmegen breakage syndrome-like disorder
  • p.Tyr625Ter Multiple submitters hereditary neoplastic syndrome

Likely pathogenic 109

  • c.1051+1G>A Multiple submitters hereditary neoplastic syndrome
  • c.1052-1G>A Multiple submitters hereditary neoplastic syndrome
  • c.1052-2A>C Multiple submitters hereditary neoplastic syndrome
  • c.129+1G>A Multiple submitters hereditary neoplastic syndrome
  • c.129+1G>T Multiple submitters hereditary neoplastic syndrome
  • c.129+2T>A Multiple submitters Nijmegen breakage syndrome-like disorder
  • c.129+2T>C Multiple submitters hereditary breast carcinoma
  • c.130-1G>T Multiple submitters hereditary neoplastic syndrome
  • c.2525-1G>C Multiple submitters hereditary neoplastic syndrome
  • c.2525-1G>T Multiple submitters hereditary neoplastic syndrome
  • c.2718+1G>T Multiple submitters Nijmegen breakage syndrome-like disorder
  • c.2922+1G>A Multiple submitters hereditary neoplastic syndrome
  • c.3160_3164+8del Multiple submitters Nijmegen breakage syndrome-like disorder
  • c.3164+1G>A Multiple submitters hereditary neoplastic syndrome
  • c.3164+1G>T Multiple submitters hereditary neoplastic syndrome
  • c.3164+2T>C Multiple submitters hereditary neoplastic syndrome
  • c.3612_3618+5del Multiple submitters hereditary neoplastic syndrome
  • c.3618+1G>A Multiple submitters hereditary neoplastic syndrome
  • c.3752+1G>A Multiple submitters Nijmegen breakage syndrome-like disorder
  • c.3753-1G>A Multiple submitters hereditary neoplastic syndrome
  • c.552-2A>C Multiple submitters hereditary neoplastic syndrome
  • c.886-1G>C Multiple submitters hereditary neoplastic syndrome
  • p.Met1Val Multiple submitters hereditary neoplastic syndrome
  • c.1052-2A>G Single submitter hereditary neoplastic syndrome
  • c.1052dup Single submitter Nijmegen breakage syndrome-like disorder
  • c.129+1G>C Single submitter hereditary neoplastic syndrome
  • c.130-1G>A Single submitter hereditary neoplastic syndrome
  • c.130-1G>C Single submitter hereditary neoplastic syndrome
  • c.130-2A>G Single submitter hereditary neoplastic syndrome
  • c.1452+1G>A Single submitter hereditary neoplastic syndrome
  • c.1452+2T>C Single submitter hereditary neoplastic syndrome
  • c.1793+1del Single submitter hereditary neoplastic syndrome
  • c.1793+1G>C Single submitter hereditary neoplastic syndrome
  • c.1793+4A>G Single submitter hereditary neoplastic syndrome
  • c.1969+1G>C Single submitter hereditary neoplastic syndrome
  • c.1970-1G>A Single submitter hereditary neoplastic syndrome
  • c.1970-2A>G Single submitter hereditary neoplastic syndrome
  • c.214-1G>A Single submitter hereditary neoplastic syndrome
  • c.214-1G>C Single submitter hereditary neoplastic syndrome
  • c.214-2A>T Single submitter hereditary neoplastic syndrome
  • c.2156_2207+3332del Single submitter hereditary neoplastic syndrome
  • c.2207+1G>A Single submitter hereditary neoplastic syndrome
  • c.2291_2292insALU Single submitter hereditary neoplastic syndrome
  • c.2397+1G>A Single submitter hereditary neoplastic syndrome
  • c.2524+1G>A Single submitter hereditary neoplastic syndrome
  • c.2524+1G>T Single submitter hereditary neoplastic syndrome
  • c.2525-1G>A Single submitter hereditary neoplastic syndrome
  • c.263_365+47delinsCAAAAAGAC Single submitter hereditary neoplastic syndrome
  • c.2718+1_2718+5del Single submitter hereditary neoplastic syndrome
  • c.2719-1G>T Single submitter hereditary neoplastic syndrome
  • c.2829+2T>C Single submitter hereditary neoplastic syndrome
  • c.2829+5G>C Single submitter hereditary neoplastic syndrome
  • c.2830-1G>A Single submitter hereditary neoplastic syndrome
  • c.2830-2A>C Single submitter hereditary neoplastic syndrome
  • c.3036+1G>A Single submitter hereditary neoplastic syndrome
  • c.3037-2A>G Single submitter hereditary neoplastic syndrome
  • c.3164+1G>C Single submitter hereditary neoplastic syndrome
  • c.3165-2A>G Single submitter Nijmegen breakage syndrome-like disorder
  • c.3389+1G>C Single submitter hereditary neoplastic syndrome
  • c.3390-1G>A Single submitter hereditary neoplastic syndrome
  • c.3390-2A>G Single submitter hereditary neoplastic syndrome
  • c.3475+1G>A Single submitter hereditary neoplastic syndrome
  • c.3476-10_3480del Single submitter hereditary neoplastic syndrome
  • c.3476-1G>C Single submitter hereditary neoplastic syndrome
  • c.3476-?_3618+?dup Single submitter hereditary neoplastic syndrome
  • c.3619-1G>A Single submitter hereditary neoplastic syndrome
  • c.3619-2A>G Single submitter hereditary neoplastic syndrome
  • c.365+2T>G Single submitter hereditary neoplastic syndrome
  • c.366-2A>G Single submitter hereditary neoplastic syndrome
  • c.3753-2A>G Single submitter Nijmegen breakage syndrome-like disorder
  • c.3753-2A>T Single submitter hereditary neoplastic syndrome
  • c.3753-8T>G Single submitter hereditary neoplastic syndrome
  • p.Gln1263Ter Single submitter hereditary neoplastic syndrome
  • c.551+1G>C Single submitter Nijmegen breakage syndrome-like disorder
  • c.551+2T>A Single submitter hereditary neoplastic syndrome
  • c.552-1G>T Single submitter hereditary neoplastic syndrome
  • c.756_756+2delinsTG Single submitter hereditary neoplastic syndrome
  • c.756+2del Single submitter hereditary neoplastic syndrome
  • c.886-4_890delinsCAAATAAA Single submitter hereditary neoplastic syndrome
  • p.Ala546fs Single submitter hereditary breast ovarian cancer syndrome
  • p.Asn1241fs Single submitter hereditary neoplastic syndrome
  • p.Asp1020fs Single submitter Nijmegen breakage syndrome-like disorder
  • p.Asp700fs Single submitter hereditary neoplastic syndrome
  • p.Asp791_Thr793del Single submitter Nijmegen breakage syndrome-like disorder
  • p.Cys102fs Single submitter Nijmegen breakage syndrome-like disorder
  • p.Cys684fs Single submitter Nijmegen breakage syndrome-like disorder
  • p.Gln1058fs Single submitter RAD50-related disorder
  • p.Gln1258Ter Single submitter hereditary neoplastic syndrome
  • p.Gln1259fs Single submitter hereditary neoplastic syndrome
  • p.Gln854Ter Single submitter RAD50-related disorder
  • p.Glu1243fs Single submitter hereditary neoplastic syndrome
  • p.Glu1251fs Single submitter Nijmegen breakage syndrome-like disorder
  • p.Glu5Ter Single submitter hereditary neoplastic syndrome
  • p.Glu626Ter Single submitter Nijmegen breakage syndrome-like disorder
  • p.Glu995Ter Single submitter Nijmegen breakage syndrome-like disorder
  • p.Gly469Ter Single submitter
  • p.Ile432fs Single submitter Nijmegen breakage syndrome-like disorder
  • p.Leu1189fs Single submitter Nijmegen breakage syndrome-like disorder
  • p.Leu1249fs Single submitter hereditary neoplastic syndrome
  • p.Leu399fs Single submitter RAD50-related disorder
  • p.Lys906Asn Single submitter hereditary neoplastic syndrome ⚠
  • p.Ser1257Ter Single submitter hereditary neoplastic syndrome
  • p.Thr1023fs Single submitter Nijmegen breakage syndrome-like disorder
  • p.Thr1193Arg Single submitter ovarian cancer ⚠
  • p.Thr674fs Single submitter RAD50-related disorder
  • p.Val1250delinsGlyAsnValLeuProGlnLeuTrpHisHisCysLeuGlyTer Single submitter hereditary neoplastic syndrome
  • c.2524+1_2524+9del No assertion criteria hepatocellular carcinoma
  • p.Gly63fs No assertion criteria Nijmegen breakage syndrome-like disorder
  • p.Val683fs No assertion criteria hepatocellular carcinoma

Conflicting classifications of pathogenicity 158

Benign 65

Benign/Likely benign 36

  • c.1052-6del Multiple submitters hereditary neoplastic syndrome
  • c.1052-6dup Multiple submitters hereditary neoplastic syndrome
  • c.129+10C>A Multiple submitters hereditary neoplastic syndrome
  • c.1636-9dup Multiple submitters hereditary neoplastic syndrome
  • c.1969+232G>A Multiple submitters
  • c.1970-4dup Multiple submitters hereditary neoplastic syndrome
  • c.2718+13A>G Multiple submitters hereditary neoplastic syndrome
  • c.2718+25del Multiple submitters hereditary neoplastic syndrome
  • c.2923-5dup Multiple submitters hereditary neoplastic syndrome
  • c.3164+14del Multiple submitters hereditary neoplastic syndrome
  • c.3165-4A>T Multiple submitters hereditary neoplastic syndrome
  • c.3165-8T>G Multiple submitters hereditary neoplastic syndrome
  • c.3476-18TTC[2] Multiple submitters hereditary neoplastic syndrome
  • c.3619-5dup Multiple submitters hereditary neoplastic syndrome
  • c.756+7del Multiple submitters hereditary neoplastic syndrome
  • p.Ala1169= Multiple submitters hereditary neoplastic syndrome
  • p.Arg644= Multiple submitters hereditary neoplastic syndrome
  • p.Asn613= Multiple submitters Nijmegen breakage syndrome-like disorder
  • p.Asp137= Multiple submitters hereditary neoplastic syndrome
  • p.Asp970= Multiple submitters hereditary neoplastic syndrome
  • p.Gln413= Multiple submitters hereditary neoplastic syndrome
  • p.Gln812= Multiple submitters hereditary neoplastic syndrome
  • p.Gln886= Multiple submitters Nijmegen breakage syndrome-like disorder
  • p.Gln890= Multiple submitters hereditary neoplastic syndrome
  • p.His1269= Multiple submitters hereditary neoplastic syndrome
  • p.His559= Multiple submitters hereditary neoplastic syndrome
  • p.Ile94Leu Multiple submitters Nijmegen breakage syndrome-like disorder
  • p.Leu1051= Multiple submitters hereditary neoplastic syndrome
  • p.Leu307= Multiple submitters hereditary neoplastic syndrome
  • p.Leu705= Multiple submitters hereditary neoplastic syndrome
  • p.Leu707= Multiple submitters hereditary neoplastic syndrome
  • p.Ser784= Multiple submitters hereditary neoplastic syndrome
  • p.Thr191Ile Multiple submitters hereditary neoplastic syndrome
  • p.Tyr1287= Multiple submitters hereditary neoplastic syndrome
  • p.Tyr625= Multiple submitters hereditary neoplastic syndrome
  • p.Val697= Multiple submitters hereditary neoplastic syndrome

Likely benign 1242

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

  • p.Leu1150= Multiple submitters hereditary neoplastic syndrome
  • p.Ser1174= Multiple submitters hereditary neoplastic syndrome
  • p.Ala1216= Multiple submitters hereditary neoplastic syndrome
  • c.1052-6T>C Multiple submitters hereditary neoplastic syndrome
  • c.130-10A>G Multiple submitters hereditary neoplastic syndrome
  • c.130-12C>G Multiple submitters hereditary neoplastic syndrome
  • c.1453-9A>G Multiple submitters hereditary neoplastic syndrome
  • c.1636-4A>G Multiple submitters hereditary neoplastic syndrome
  • c.1793+13del Multiple submitters hereditary neoplastic syndrome
  • c.1794-19A>G Multiple submitters hereditary neoplastic syndrome
  • c.1794-7A>C Multiple submitters hereditary neoplastic syndrome
  • c.1794-9T>C Multiple submitters hereditary neoplastic syndrome
  • c.1970-12T>G Multiple submitters hereditary neoplastic syndrome
  • c.1970-65G>A Multiple submitters
  • c.1970-7A>C Multiple submitters hereditary neoplastic syndrome
  • c.214-5C>T Multiple submitters hereditary neoplastic syndrome
  • c.2207+8T>A Multiple submitters hereditary neoplastic syndrome
  • c.2524+4A>T Multiple submitters hereditary neoplastic syndrome
  • c.2718+10T>G Multiple submitters hereditary neoplastic syndrome
  • c.2718+9A>T Multiple submitters hereditary neoplastic syndrome
  • c.2719-4T>A Multiple submitters hereditary neoplastic syndrome
  • c.2923-4G>A Multiple submitters hereditary neoplastic syndrome
  • c.3037-14A>G Multiple submitters hereditary neoplastic syndrome
  • c.3037-6C>T Multiple submitters hereditary neoplastic syndrome
  • c.3390-10C>T Multiple submitters hereditary neoplastic syndrome
  • c.3475+10A>C Multiple submitters hereditary neoplastic syndrome
  • c.3475+13G>A Multiple submitters hereditary neoplastic syndrome
  • c.3476-16C>A Multiple submitters hereditary neoplastic syndrome
  • c.366-4G>A Multiple submitters hereditary neoplastic syndrome
  • c.366-8T>C Multiple submitters hereditary neoplastic syndrome
  • p.Thr1220= Multiple submitters hereditary neoplastic syndrome
  • c.3752+12_3752+41del Multiple submitters hereditary neoplastic syndrome
  • c.3752+7_3752+9dup Multiple submitters hereditary neoplastic syndrome
  • p.Ile1299= Multiple submitters hereditary neoplastic syndrome
  • c.757-4T>C Multiple submitters hereditary neoplastic syndrome
  • c.886-11G>T Multiple submitters hereditary neoplastic syndrome
  • p.Ala1074= Multiple submitters hereditary neoplastic syndrome
  • p.Ala1194= Multiple submitters hereditary neoplastic syndrome
  • p.Ala1203= Multiple submitters hereditary neoplastic syndrome
  • p.Ala1209= Multiple submitters hereditary neoplastic syndrome
  • p.Ala1216= Multiple submitters hereditary neoplastic syndrome
  • p.Ala1218= Multiple submitters hereditary neoplastic syndrome
  • p.Ala1248= Multiple submitters hereditary neoplastic syndrome
  • p.Ala149= Multiple submitters hereditary neoplastic syndrome
  • p.Ala188= Multiple submitters hereditary neoplastic syndrome
  • p.Ala274= Multiple submitters hereditary neoplastic syndrome
  • p.Ala366= Multiple submitters hereditary neoplastic syndrome
  • p.Ala40= Multiple submitters hereditary neoplastic syndrome
  • p.Ala657= Multiple submitters hereditary neoplastic syndrome
  • p.Ala662= Multiple submitters hereditary neoplastic syndrome
  • p.Ala664= Multiple submitters hereditary neoplastic syndrome
  • p.Ala708= Multiple submitters hereditary neoplastic syndrome
  • p.Ala73= Multiple submitters hereditary neoplastic syndrome
  • p.Ala813= Multiple submitters hereditary neoplastic syndrome
  • p.Ala908= Multiple submitters hereditary neoplastic syndrome
  • p.Arg1025= Multiple submitters hereditary neoplastic syndrome
  • p.Arg1069= Multiple submitters hereditary neoplastic syndrome
  • p.Arg1077= Multiple submitters hereditary neoplastic syndrome
  • p.Arg1098= Multiple submitters hereditary neoplastic syndrome
  • p.Arg1105= Multiple submitters hereditary neoplastic syndrome
  • p.Arg1148= Multiple submitters hereditary neoplastic syndrome
  • p.Arg1152= Multiple submitters hereditary neoplastic syndrome
  • p.Arg1156= Multiple submitters hereditary neoplastic syndrome
  • p.Arg1179= Multiple submitters hereditary neoplastic syndrome
  • p.Arg1214= Multiple submitters hereditary neoplastic syndrome
  • p.Arg13= Multiple submitters hereditary neoplastic syndrome
  • p.Arg193= Multiple submitters hereditary neoplastic syndrome
  • p.Arg3= Multiple submitters hereditary neoplastic syndrome
  • p.Arg316= Multiple submitters hereditary neoplastic syndrome
  • p.Arg320= Multiple submitters hereditary neoplastic syndrome
  • p.Arg391= Multiple submitters hereditary neoplastic syndrome
  • p.Arg403= Multiple submitters hereditary neoplastic syndrome
  • p.Arg535= Multiple submitters hereditary neoplastic syndrome
  • p.Arg591= Multiple submitters hereditary neoplastic syndrome
  • p.Arg656= Multiple submitters hereditary neoplastic syndrome
  • p.Arg686= Multiple submitters hereditary neoplastic syndrome
  • p.Arg706= Multiple submitters hereditary neoplastic syndrome
  • p.Arg725= Multiple submitters hereditary neoplastic syndrome
  • p.Arg726= Multiple submitters hereditary neoplastic syndrome
  • p.Arg751= Multiple submitters hereditary neoplastic syndrome
  • p.Arg763= Multiple submitters hereditary neoplastic syndrome
  • p.Arg797= Multiple submitters hereditary neoplastic syndrome
  • p.Arg823= Multiple submitters hereditary neoplastic syndrome
  • p.Asn1066= Multiple submitters hereditary neoplastic syndrome
  • p.Asn1070= Multiple submitters hereditary neoplastic syndrome
  • p.Asn1172= Multiple submitters hereditary neoplastic syndrome
  • p.Asn1181= Multiple submitters hereditary neoplastic syndrome
  • p.Asn1224= Multiple submitters hereditary neoplastic syndrome
  • p.Asn1292= Multiple submitters hereditary neoplastic syndrome
  • p.Asn1310= Multiple submitters hereditary neoplastic syndrome
  • p.Asn153= Multiple submitters hereditary neoplastic syndrome
  • p.Asn246= Multiple submitters hereditary neoplastic syndrome
  • p.Asn270= Multiple submitters hereditary neoplastic syndrome
  • p.Asn286= Multiple submitters hereditary neoplastic syndrome
  • p.Asn340= Multiple submitters hereditary neoplastic syndrome
  • p.Asn395= Multiple submitters hereditary neoplastic syndrome
  • p.Asn416= Multiple submitters hereditary neoplastic syndrome
  • p.Asn455= Multiple submitters hereditary neoplastic syndrome
  • p.Asn494= Multiple submitters hereditary neoplastic syndrome
  • p.Asn496= Multiple submitters hereditary neoplastic syndrome
  • p.Asn509= Multiple submitters hereditary neoplastic syndrome
  • p.Asn529= Multiple submitters hereditary neoplastic syndrome
  • p.Asn572= Multiple submitters hereditary neoplastic syndrome
  • p.Asn607= Multiple submitters hereditary neoplastic syndrome
  • p.Asn758= Multiple submitters hereditary neoplastic syndrome
  • p.Asn766= Multiple submitters hereditary neoplastic syndrome
  • p.Asn934= Multiple submitters hereditary neoplastic syndrome
  • p.Asn937= Multiple submitters hereditary neoplastic syndrome
  • p.Asp1000= Multiple submitters hereditary neoplastic syndrome
  • p.Asp1007= Multiple submitters hereditary neoplastic syndrome
  • p.Asp1009= Multiple submitters hereditary neoplastic syndrome
  • p.Asp1065= Multiple submitters hereditary neoplastic syndrome
  • p.Asp1149= Multiple submitters hereditary neoplastic syndrome
  • p.Asp1177= Multiple submitters hereditary neoplastic syndrome
  • p.Asp1270= Multiple submitters hereditary neoplastic syndrome
  • p.Asp306= Multiple submitters hereditary neoplastic syndrome
  • p.Asp381= Multiple submitters hereditary neoplastic syndrome
  • p.Asp472= Multiple submitters hereditary neoplastic syndrome
  • p.Asp478= Multiple submitters hereditary neoplastic syndrome
  • p.Asp515= Multiple submitters hereditary neoplastic syndrome
  • p.Asp56= Multiple submitters hereditary neoplastic syndrome
  • p.Asp643= Multiple submitters hereditary neoplastic syndrome
  • p.Asp69= Multiple submitters hereditary neoplastic syndrome
  • p.Asp760= Multiple submitters hereditary neoplastic syndrome
  • p.Asp855= Multiple submitters hereditary neoplastic syndrome
  • p.Asp946= Multiple submitters hereditary neoplastic syndrome
  • p.Asp960= Multiple submitters hereditary neoplastic syndrome
  • p.Asp971= Multiple submitters hereditary neoplastic syndrome
  • p.Cys1201= Multiple submitters hereditary neoplastic syndrome
  • p.Cys1225= Multiple submitters hereditary neoplastic syndrome
  • p.Cys1296= Multiple submitters hereditary neoplastic syndrome
  • p.Cys1302= Multiple submitters hereditary neoplastic syndrome
  • p.Cys133= Multiple submitters hereditary neoplastic syndrome
  • p.Cys325= Multiple submitters hereditary neoplastic syndrome
  • p.Cys633= Multiple submitters hereditary neoplastic syndrome
  • p.Cys681= Multiple submitters hereditary neoplastic syndrome
  • p.Cys788= Multiple submitters hereditary neoplastic syndrome
  • p.Cys990= Multiple submitters hereditary neoplastic syndrome
  • p.Gln1019= Multiple submitters hereditary neoplastic syndrome
  • p.Gln1040= Multiple submitters hereditary neoplastic syndrome
  • p.Gln1047= Multiple submitters hereditary neoplastic syndrome
  • p.Gln1052= Multiple submitters hereditary neoplastic syndrome
  • p.Gln1096= Multiple submitters hereditary neoplastic syndrome
  • p.Gln1258= Multiple submitters hereditary neoplastic syndrome
  • p.Gln1263= Multiple submitters hereditary neoplastic syndrome
  • p.Gln174= Multiple submitters hereditary neoplastic syndrome
  • p.Gln207= Multiple submitters hereditary neoplastic syndrome
  • p.Gln298= Multiple submitters hereditary neoplastic syndrome
  • p.Gln303= Multiple submitters hereditary neoplastic syndrome
  • p.Gln312= Multiple submitters hereditary neoplastic syndrome
  • p.Gln356= Multiple submitters hereditary neoplastic syndrome
  • p.Gln361= Multiple submitters hereditary neoplastic syndrome
  • p.Gln377= Multiple submitters hereditary neoplastic syndrome
  • p.Gln426= Multiple submitters hereditary neoplastic syndrome
  • p.Gln428= Multiple submitters hereditary neoplastic syndrome
  • p.Gln465= Multiple submitters hereditary neoplastic syndrome
  • p.Gln537= Multiple submitters hereditary neoplastic syndrome
  • p.Gln551= Multiple submitters hereditary neoplastic syndrome
  • p.Gln636= Multiple submitters hereditary neoplastic syndrome
  • p.Gln655= Multiple submitters hereditary neoplastic syndrome
  • p.Gln668= Multiple submitters hereditary neoplastic syndrome
  • p.Gln695= Multiple submitters hereditary neoplastic syndrome
  • p.Gln702= Multiple submitters hereditary neoplastic syndrome
  • p.Gln74= Multiple submitters hereditary neoplastic syndrome
  • p.Gln762= Multiple submitters hereditary neoplastic syndrome
  • p.Gln771= Multiple submitters hereditary neoplastic syndrome
  • p.Gln811= Multiple submitters hereditary neoplastic syndrome
  • p.Gln833= Multiple submitters hereditary neoplastic syndrome
  • p.Gln836= Multiple submitters hereditary neoplastic syndrome
  • p.Gln861= Multiple submitters hereditary neoplastic syndrome
  • p.Gln882= Multiple submitters hereditary neoplastic syndrome
  • p.Gln885= Multiple submitters hereditary neoplastic syndrome
  • p.Gln911= Multiple submitters hereditary neoplastic syndrome
  • p.Gln923= Multiple submitters hereditary neoplastic syndrome
  • p.Gln941= Multiple submitters hereditary neoplastic syndrome
  • p.Gln97= Multiple submitters hereditary neoplastic syndrome
  • p.Glu1033= Multiple submitters hereditary neoplastic syndrome
  • p.Glu1035= Multiple submitters hereditary neoplastic syndrome
  • p.Glu1056= Multiple submitters hereditary neoplastic syndrome
  • p.Glu1102= Multiple submitters hereditary neoplastic syndrome
  • p.Glu1161= Multiple submitters hereditary neoplastic syndrome
  • p.Glu1232= Multiple submitters hereditary neoplastic syndrome
  • p.Glu1271= Multiple submitters hereditary neoplastic syndrome
  • p.Glu1281= Multiple submitters hereditary neoplastic syndrome
  • p.Glu160= Multiple submitters hereditary neoplastic syndrome
  • p.Glu168= Multiple submitters hereditary neoplastic syndrome
  • p.Glu205= Multiple submitters hereditary neoplastic syndrome
  • p.Glu209= Multiple submitters hereditary neoplastic syndrome
  • p.Glu218= Multiple submitters hereditary neoplastic syndrome
  • p.Glu222= Multiple submitters hereditary neoplastic syndrome
  • p.Glu247= Multiple submitters hereditary neoplastic syndrome
  • p.Glu257= Multiple submitters hereditary neoplastic syndrome
  • p.Glu302= Multiple submitters hereditary neoplastic syndrome
  • p.Glu328= Multiple submitters hereditary neoplastic syndrome
  • p.Glu335= Multiple submitters hereditary neoplastic syndrome
  • p.Glu345= Multiple submitters hereditary neoplastic syndrome
  • p.Glu407= Multiple submitters hereditary neoplastic syndrome
  • p.Glu444= Multiple submitters hereditary neoplastic syndrome
  • p.Glu456= Multiple submitters hereditary neoplastic syndrome
  • p.Glu463= Multiple submitters hereditary neoplastic syndrome
  • p.Glu468= Multiple submitters hereditary neoplastic syndrome
  • p.Glu47= Multiple submitters hereditary neoplastic syndrome
  • p.Glu476= Multiple submitters hereditary neoplastic syndrome
  • p.Glu510= Multiple submitters hereditary neoplastic syndrome
  • p.Glu524= Multiple submitters hereditary neoplastic syndrome
  • p.Glu526= Multiple submitters hereditary neoplastic syndrome
  • p.Glu562= Multiple submitters hereditary neoplastic syndrome
  • p.Glu614= Multiple submitters hereditary neoplastic syndrome
  • p.Glu619= Multiple submitters hereditary neoplastic syndrome
  • p.Glu620= Multiple submitters hereditary neoplastic syndrome
  • p.Glu647= Multiple submitters hereditary neoplastic syndrome
  • p.Glu723= Multiple submitters hereditary neoplastic syndrome
  • p.Glu75= Multiple submitters hereditary neoplastic syndrome
  • p.Glu783= Multiple submitters hereditary neoplastic syndrome
  • p.Glu801= Multiple submitters hereditary neoplastic syndrome
  • p.Glu869= Multiple submitters hereditary neoplastic syndrome
  • p.Glu873= Multiple submitters hereditary neoplastic syndrome
  • p.Glu888= Multiple submitters hereditary neoplastic syndrome
  • p.Glu893= Multiple submitters hereditary neoplastic syndrome
  • p.Glu904= Multiple submitters hereditary neoplastic syndrome
  • p.Glu920= Multiple submitters hereditary neoplastic syndrome
  • p.Glu962= Multiple submitters hereditary neoplastic syndrome
  • p.Glu979= Multiple submitters hereditary neoplastic syndrome
  • p.Gly1076= Multiple submitters hereditary neoplastic syndrome
  • p.Gly11= Multiple submitters hereditary neoplastic syndrome
  • p.Gly1226= Multiple submitters hereditary neoplastic syndrome
  • p.Gly124= Multiple submitters hereditary neoplastic syndrome
  • p.Gly145= Multiple submitters hereditary neoplastic syndrome
  • p.Gly406= Multiple submitters hereditary neoplastic syndrome
  • p.Gly41= Multiple submitters hereditary neoplastic syndrome
  • p.Gly438= Multiple submitters hereditary neoplastic syndrome
  • p.Gly818= Multiple submitters hereditary neoplastic syndrome
  • p.His1087= Multiple submitters hereditary neoplastic syndrome
  • p.His1136= Multiple submitters hereditary neoplastic syndrome
  • p.His123= Multiple submitters hereditary neoplastic syndrome
  • p.His1247= Multiple submitters hereditary neoplastic syndrome
  • p.His260= Multiple submitters hereditary neoplastic syndrome
  • p.His309= Multiple submitters hereditary neoplastic syndrome
  • p.His311= Multiple submitters hereditary neoplastic syndrome
  • p.His326= Multiple submitters hereditary neoplastic syndrome
  • p.His363= Multiple submitters hereditary neoplastic syndrome
  • p.His581= Multiple submitters hereditary neoplastic syndrome
  • p.His837= Multiple submitters hereditary neoplastic syndrome
  • p.His862= Multiple submitters hereditary neoplastic syndrome
  • p.His955= Multiple submitters hereditary neoplastic syndrome
  • p.His993= Multiple submitters hereditary neoplastic syndrome
  • p.Ile1067= Multiple submitters hereditary neoplastic syndrome
  • p.Ile1109= Multiple submitters hereditary neoplastic syndrome
  • p.Ile1123= Multiple submitters hereditary neoplastic syndrome
  • p.Ile1143= Multiple submitters hereditary neoplastic syndrome
  • p.Ile1252= Multiple submitters hereditary neoplastic syndrome
  • p.Ile1267= Multiple submitters hereditary neoplastic syndrome
  • p.Ile1299= Multiple submitters hereditary neoplastic syndrome
  • p.Ile186= Multiple submitters hereditary neoplastic syndrome
  • p.Ile25= Multiple submitters hereditary neoplastic syndrome
  • p.Ile45= Multiple submitters hereditary neoplastic syndrome
  • p.Ile474= Multiple submitters hereditary neoplastic syndrome
  • p.Ile587= Multiple submitters hereditary neoplastic syndrome
  • p.Ile649= Multiple submitters hereditary neoplastic syndrome
  • p.Ile670= Multiple submitters hereditary neoplastic syndrome
  • p.Ile739= Multiple submitters hereditary neoplastic syndrome
  • p.Ile794= Multiple submitters hereditary neoplastic syndrome
  • p.Ile82= Multiple submitters hereditary neoplastic syndrome
  • p.Ile930= Multiple submitters hereditary neoplastic syndrome
  • p.Ile947= Multiple submitters hereditary neoplastic syndrome
  • p.Leu1003= Multiple submitters hereditary neoplastic syndrome
  • p.Leu1018= Multiple submitters hereditary neoplastic syndrome
  • p.Leu1042= Multiple submitters hereditary neoplastic syndrome
  • p.Leu1075= Multiple submitters hereditary neoplastic syndrome
  • p.Leu1128= Multiple submitters hereditary neoplastic syndrome
  • p.Leu1189= Multiple submitters hereditary neoplastic syndrome
  • p.Leu1195= Multiple submitters hereditary neoplastic syndrome
  • p.Leu1223= Multiple submitters hereditary neoplastic syndrome
  • p.Leu1245= Multiple submitters hereditary neoplastic syndrome
  • p.Leu129= Multiple submitters hereditary neoplastic syndrome
  • p.Leu172= Multiple submitters hereditary neoplastic syndrome
  • p.Leu189= Multiple submitters hereditary neoplastic syndrome
  • p.Leu210= Multiple submitters hereditary neoplastic syndrome
  • p.Leu248= Multiple submitters hereditary neoplastic syndrome
  • p.Leu275= Multiple submitters hereditary neoplastic syndrome
  • p.Leu304= Multiple submitters hereditary neoplastic syndrome
  • p.Leu329= Multiple submitters hereditary neoplastic syndrome
  • p.Leu332= Multiple submitters hereditary neoplastic syndrome
  • p.Leu339= Multiple submitters hereditary neoplastic syndrome
  • p.Leu34= Multiple submitters hereditary neoplastic syndrome
  • p.Leu347= Multiple submitters hereditary neoplastic syndrome
  • p.Leu353= Multiple submitters hereditary neoplastic syndrome
  • p.Leu355= Multiple submitters hereditary neoplastic syndrome
  • p.Leu380= Multiple submitters hereditary neoplastic syndrome
  • p.Leu414= Multiple submitters hereditary neoplastic syndrome
  • p.Leu424= Multiple submitters hereditary neoplastic syndrome
  • p.Leu439= Multiple submitters hereditary neoplastic syndrome
  • p.Leu464= Multiple submitters hereditary neoplastic syndrome
  • p.Leu49= Multiple submitters hereditary neoplastic syndrome
  • p.Leu514= Multiple submitters hereditary neoplastic syndrome
  • p.Leu518= Multiple submitters hereditary neoplastic syndrome
  • p.Leu563= Multiple submitters hereditary neoplastic syndrome
  • p.Leu580= Multiple submitters hereditary neoplastic syndrome
  • p.Leu597= Multiple submitters hereditary neoplastic syndrome
  • p.Leu601= Multiple submitters hereditary neoplastic syndrome

Uncertain significance 2652

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