Sugi Variant

Sugi Variant/POT1

POT1 — 2464 ClinVar variants

All ClinVar germline POT1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 1190 flagged for review →

137 Pathogenic · 20 Pathogenic/Likely pathogenic · 56 Likely pathogenic · 170 Conflicting · 51 Benign · 21 Benign/Likely benign · 746 Likely benign · 1263 Uncertain significance

Full POT1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 1190

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

Predictors vs ClinVar 1

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

Predictors agree, ClinVar conflicts 111

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

Predictors lean, ClinVar uncertain 897

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 897

Predictors split 181

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 181

All POT1 variants

Pathogenic 137

  • p.Asn124fs Multiple submitters hereditary neoplastic syndrome
  • p.Asn282_Ser283insTer Multiple submitters tumor predisposition syndrome 3
  • p.Asn471fs Multiple submitters tumor predisposition syndrome 3
  • p.Asp561fs Multiple submitters tumor predisposition syndrome 3
  • p.Cys506fs Multiple submitters hereditary neoplastic syndrome
  • p.Gln167Ter Multiple submitters tumor predisposition syndrome 3
  • p.Gln16Ter Multiple submitters hereditary neoplastic syndrome
  • p.Gln354fs Multiple submitters tumor predisposition syndrome 3
  • p.Gln52Ter Multiple submitters hereditary neoplastic syndrome
  • p.Gln539Ter Multiple submitters tumor predisposition syndrome 3
  • p.Gln94fs Multiple submitters hereditary neoplastic syndrome
  • p.Gly319fs Multiple submitters tumor predisposition syndrome 3
  • p.His211fs Multiple submitters tumor predisposition syndrome 3
  • p.Ile49fs Multiple submitters hereditary neoplastic syndrome
  • p.Ile72fs Multiple submitters tumor predisposition syndrome 3
  • p.Leu110fs Multiple submitters tumor predisposition syndrome 3
  • p.Leu259fs Multiple submitters tumor predisposition syndrome 3
  • p.Leu418fs Multiple submitters hereditary neoplastic syndrome
  • p.Leu445fs Multiple submitters tumor predisposition syndrome 3
  • p.Lys433_Val434insTer Multiple submitters hereditary neoplastic syndrome
  • p.Lys465fs Multiple submitters tumor predisposition syndrome 3
  • p.Pro190fs Multiple submitters hereditary neoplastic syndrome
  • p.Ser368_Tyr369insTer Multiple submitters polycystic kidney disease 4
  • p.Ser421Ter Multiple submitters tumor predisposition syndrome 3
  • p.Tyr342Ter Multiple submitters hereditary neoplastic syndrome
  • p.Tyr501fs Multiple submitters tumor predisposition syndrome 3
  • p.Val285fs Multiple submitters hereditary neoplastic syndrome
  • c.10-1G>A Single submitter tumor predisposition syndrome 3
  • c.10dupG Single submitter hereditary neoplastic syndrome
  • c.9+4A>C Single submitter tumor predisposition syndrome 3
  • c.9+4A>G Single submitter tumor predisposition syndrome 3
  • c.949+1G>T Single submitter tumor predisposition syndrome 3
  • c.950-915C>T Single submitter tumor predisposition syndrome 3
  • c.-226-2764_124+8018del Single submitter Long telomere syndrome
  • p.Ala356fs Single submitter hereditary neoplastic syndrome
  • p.Ala532fs Single submitter tumor predisposition syndrome 3
  • p.Arg188fs Single submitter tumor predisposition syndrome 3
  • p.Arg231fs Single submitter hereditary neoplastic syndrome
  • p.Arg240fs Single submitter tumor predisposition syndrome 3
  • p.Arg372fs Single submitter hereditary neoplastic syndrome
  • p.Arg372Ter Single submitter hereditary neoplastic syndrome
  • p.Asn124delinsAspValTer Single submitter tumor predisposition syndrome 3
  • p.Asn15fs Single submitter tumor predisposition syndrome 3
  • p.Asn296fs Single submitter hereditary neoplastic syndrome
  • p.Asn65fs Single submitter tumor predisposition syndrome 3
  • p.Asn75fs Single submitter tumor predisposition syndrome 3
  • p.Asp291fs Single submitter tumor predisposition syndrome 3
  • p.Cys154Ter Single submitter hereditary neoplastic syndrome
  • p.Cys307Ter Single submitter tumor predisposition syndrome 3
  • p.Cys464Ter Single submitter tumor predisposition syndrome 3
  • p.Cys506Ter Single submitter tumor predisposition syndrome 3
  • p.Cys59Ter Single submitter hereditary neoplastic syndrome
  • p.Gln249fs Single submitter tumor predisposition syndrome 3
  • p.Gln256Ter Single submitter tumor predisposition syndrome 3
  • p.Gln330Ter Single submitter tumor predisposition syndrome 3
  • p.Gln341Ter Single submitter hereditary neoplastic syndrome
  • p.Gln358Ter Single submitter tumor predisposition syndrome 3
  • p.Gln376Ter Single submitter tumor predisposition syndrome 3
  • p.Gln402fs Single submitter hereditary neoplastic syndrome
  • p.Gln429Ter Single submitter hereditary neoplastic syndrome
  • p.Gln495Ter Single submitter tumor predisposition syndrome 3
  • p.Gln87fs Single submitter tumor predisposition syndrome 3
  • p.Glu293fs Single submitter tumor predisposition syndrome 3
  • p.Glu310Ter Single submitter hereditary neoplastic syndrome
  • p.Glu344Ter Single submitter tumor predisposition syndrome 3
  • p.Glu390fs Single submitter hereditary neoplastic syndrome
  • p.Glu92fs Single submitter hereditary neoplastic syndrome
  • p.Gly274fs Single submitter hereditary neoplastic syndrome
  • p.Gly40Ter Single submitter tumor predisposition syndrome 3
  • p.Gly496Ter Single submitter hereditary neoplastic syndrome
  • p.Gly64fs Single submitter tumor predisposition syndrome 3
  • p.Ile494fs Single submitter tumor predisposition syndrome 3
  • p.Ile535fs Single submitter hereditary neoplastic syndrome
  • p.Ile86fs Single submitter hereditary neoplastic syndrome
  • p.Ile96fs Single submitter tumor predisposition syndrome 3
  • p.Leu150Ter Single submitter tumor predisposition syndrome 3
  • p.Leu153Ter Single submitter tumor predisposition syndrome 3
  • p.Leu261Ter Single submitter tumor predisposition syndrome 3
  • p.Leu348fs Single submitter hereditary neoplastic syndrome
  • p.Leu418_Tyr419insTer Single submitter hereditary neoplastic syndrome
  • p.Leu453_Leu454insTer Single submitter tumor predisposition syndrome 3
  • p.Leu460_Ser461insTer Single submitter tumor predisposition syndrome 3
  • p.Leu460fs Single submitter tumor predisposition syndrome 3
  • p.Leu57_Thr58insTer Single submitter tumor predisposition syndrome 3
  • p.Leu61delinsGluThrMetLysPheLeuTer Single submitter hereditary neoplastic syndrome
  • p.Leu84fs Single submitter hereditary neoplastic syndrome
  • p.Lys379Ter Single submitter hereditary neoplastic syndrome
  • p.Lys74Ter Single submitter tumor predisposition syndrome 3
  • p.Met1fs Single submitter tumor predisposition syndrome 3
  • p.Met1Ile Single submitter tumor predisposition syndrome 3
  • p.Met1Thr Single submitter tumor predisposition syndrome 3
  • p.Met544fs Single submitter tumor predisposition syndrome 3
  • p.Met560delinsIleHisLeuMetMetGluGlnGluTyrTer Single submitter tumor predisposition syndrome 3
  • p.Phe106fs Single submitter hereditary neoplastic syndrome
  • p.Phe125fs Single submitter tumor predisposition syndrome 3
  • p.Phe375fs Single submitter hereditary neoplastic syndrome
  • p.Phe492fs Single submitter tumor predisposition syndrome 3
  • p.Pro13fs Single submitter tumor predisposition syndrome 3
  • p.Pro383fs Single submitter tumor predisposition syndrome 3
  • p.Ser178fs Single submitter tumor predisposition syndrome 3
  • p.Ser281fs Single submitter hereditary neoplastic syndrome
  • p.Ser309fs Single submitter hereditary neoplastic syndrome
  • p.Ser309Ter Single submitter tumor predisposition syndrome 3
  • p.Ser45Ter Single submitter tumor predisposition syndrome 3
  • p.Ser461fs Single submitter tumor predisposition syndrome 3
  • p.Ser472fs Single submitter tumor predisposition syndrome 3
  • p.Ser527fs Single submitter hereditary neoplastic syndrome
  • p.Thr298fs Single submitter tumor predisposition syndrome 3
  • p.Thr408fs Single submitter tumor predisposition syndrome 3
  • p.Thr545fs Single submitter tumor predisposition syndrome 3
  • p.Thr58fs Single submitter tumor predisposition syndrome 3
  • p.Trp139Ter Single submitter hereditary neoplastic syndrome
  • p.Trp148Ter Single submitter hereditary neoplastic syndrome
  • p.Trp184Ter Single submitter tumor predisposition syndrome 3
  • p.Trp194Ter Single submitter tumor predisposition syndrome 3
  • p.Trp424Ter Single submitter tumor predisposition syndrome 3
  • p.Tyr11Ter Single submitter tumor predisposition syndrome 3
  • p.Tyr161Ter Single submitter hereditary neoplastic syndrome
  • p.Tyr223Ter Single submitter tumor predisposition syndrome 3
  • p.Tyr271Ter Single submitter tumor predisposition syndrome 3
  • p.Tyr324Ter Single submitter hereditary neoplastic syndrome
  • p.Tyr43Ter Single submitter tumor predisposition syndrome 3
  • p.Tyr66_Tyr73delinsTer Single submitter tumor predisposition syndrome 3
  • p.Tyr73fs Single submitter tumor predisposition syndrome 3
  • p.Tyr73Ter Single submitter hereditary neoplastic syndrome
  • p.Tyr89fs Single submitter hereditary neoplastic syndrome
  • p.Val277fs Single submitter hereditary neoplastic syndrome
  • p.Val28fs Single submitter hereditary neoplastic syndrome
  • p.Val321fs Single submitter hereditary neoplastic syndrome
  • p.Val436fs Single submitter hereditary neoplastic syndrome
  • p.Val476delinsGlyArgAlaArgTrpLeuAlaProValValProAlaArgArgGluAlaGluAlaGlyValTrpArgGlyHisGlyAsnArgXaaXaaXaaXaaLysLysLysLysLysLysLysTer Single submitter tumor predisposition syndrome 3
  • p.Val4fs Single submitter tumor predisposition syndrome 3
  • p.Arg273Leu No assertion criteria tumor predisposition syndrome 3
  • p.Gln199Ter No assertion criteria hereditary neoplastic syndrome
  • p.Gln623His No assertion criteria tumor predisposition syndrome 3
  • p.Glu450Ter No assertion criteria tumor predisposition syndrome 3
  • p.Leu259Ser No assertion criteria pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 8 ⚠

Pathogenic/Likely pathogenic 20

  • c.10-2A>C Multiple submitters pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 8
  • c.1164-1G>A Multiple submitters tumor predisposition syndrome 3
  • c.124+1G>C Multiple submitters tumor predisposition syndrome 3
  • c.255+1G>A Multiple submitters hereditary neoplastic syndrome
  • c.255+1G>T Multiple submitters tumor predisposition syndrome 3
  • c.546+2T>G Multiple submitters Long telomere syndrome
  • p.Arg363Ter Multiple submitters tumor predisposition syndrome 3
  • p.Asn441fs Multiple submitters hereditary neoplastic syndrome
  • p.Asn54fs Multiple submitters tumor predisposition syndrome 3
  • p.Asp304fs Multiple submitters tumor predisposition syndrome 3
  • p.Asp42Glu Multiple submitters Long telomere syndrome
  • p.Cys451Ter Multiple submitters tumor predisposition syndrome 3
  • p.Gln358fs Multiple submitters tumor predisposition syndrome 3
  • p.Ile78Thr Multiple submitters tumor predisposition syndrome 3
  • p.Lys85= Multiple submitters tumor predisposition syndrome 3
  • p.Met1Val Multiple submitters tumor predisposition syndrome 3
  • p.Ser467Ter Multiple submitters tumor predisposition syndrome 3
  • p.Ser523Ter Multiple submitters tumor predisposition syndrome 3
  • p.Trp524Ter Multiple submitters tumor predisposition syndrome 3
  • p.Tyr558fs Multiple submitters hereditary neoplastic syndrome

Likely pathogenic 56

  • c.1163+1G>A Multiple submitters hereditary neoplastic syndrome
  • c.124+2T>C Multiple submitters hereditary neoplastic syndrome
  • c.125-2A>G Multiple submitters hereditary neoplastic syndrome
  • c.1369+1G>A Multiple submitters tumor predisposition syndrome 3
  • c.1506-1G>A Multiple submitters hereditary neoplastic syndrome
  • c.9+1G>A Multiple submitters tumor predisposition syndrome 3
  • c.949+2T>G Multiple submitters hereditary neoplastic syndrome
  • p.Gln157Ter Multiple submitters hereditary neoplastic syndrome
  • p.Gly236fs Multiple submitters tumor predisposition syndrome 3
  • p.Lys85Asn Multiple submitters tumor predisposition syndrome 3
  • p.Ser237fs Multiple submitters tumor predisposition syndrome 3
  • c.10-392A>G Single submitter hereditary neoplastic syndrome
  • c.1006+1G>T Single submitter tumor predisposition syndrome 3
  • c.1163+1G>C Single submitter tumor predisposition syndrome 3
  • c.124+1G>A Single submitter hereditary neoplastic syndrome
  • c.125-1G>T Single submitter tumor predisposition syndrome 3
  • c.125-9831_236del Single submitter hereditary neoplastic syndrome
  • c.1369+1_1369+7del Single submitter tumor predisposition syndrome 3
  • c.1369+1G>T Single submitter hereditary neoplastic syndrome
  • c.1505+1del Single submitter hereditary neoplastic syndrome
  • c.1505+2T>C Single submitter tumor predisposition syndrome 3
  • c.1506-1G>T Single submitter hereditary neoplastic syndrome
  • c.1506-2A>G Single submitter hereditary neoplastic syndrome
  • c.1594+1G>A Single submitter tumor predisposition syndrome 3
  • c.1594+1G>C Single submitter tumor predisposition syndrome 3
  • c.1594+1G>T Single submitter hereditary neoplastic syndrome
  • c.1594+2T>C Single submitter tumor predisposition syndrome 3
  • c.1595-1G>A Single submitter tumor predisposition syndrome 3
  • c.1595-1G>C Single submitter hereditary neoplastic syndrome
  • c.1595-2A>T Single submitter tumor predisposition syndrome 3
  • c.1686+1G>C Single submitter tumor predisposition syndrome 3
  • c.255+2T>G Single submitter hereditary neoplastic syndrome
  • c.546+1G>A Single submitter tumor predisposition syndrome 3
  • c.703-1G>A Single submitter tumor predisposition syndrome 3
  • c.703-2A>C Single submitter tumor predisposition syndrome 3
  • c.703-2A>T Single submitter tumor predisposition syndrome 3
  • c.869+1G>T Single submitter tumor predisposition syndrome 3
  • c.870-1G>A Single submitter tumor predisposition syndrome 3
  • c.870-1G>C Single submitter hereditary neoplastic syndrome
  • c.870-2A>T Single submitter hereditary neoplastic syndrome
  • c.949+1G>C Single submitter tumor predisposition syndrome 3
  • c.991_1006+7del Single submitter tumor predisposition syndrome 3
  • p.Asp206fs Single submitter
  • p.Asp42Ter Single submitter POT1-related disorder
  • p.Cys503Gly Single submitter dyskeratosis congenita
  • p.Gly457Ter Single submitter
  • p.His437fs Single submitter POT1-related disorder
  • p.Lys121fs Single submitter hereditary neoplastic syndrome
  • p.Lys247Ter Single submitter tumor predisposition syndrome 3
  • p.Phe542fs Single submitter
  • p.Thr12fs Single submitter hereditary neoplastic syndrome
  • p.Thr41_Asp42insTer Single submitter hereditary neoplastic syndrome
  • p.Tyr36Ter Single submitter hereditary neoplastic syndrome
  • p.Tyr89_Lys91delinsAsnLeu Single submitter tumor predisposition syndrome 3
  • p.Val434fs Single submitter POT1-related disorder
  • c.9+1G>C No assertion criteria

Conflicting classifications of pathogenicity 170

Benign 51

Benign/Likely benign 21

  • c.1006+16A>G Multiple submitters tumor predisposition syndrome 3
  • c.1164-13C>T Multiple submitters tumor predisposition syndrome 3
  • c.1505+7TGTTT[5] Multiple submitters
  • c.1595-11dup Multiple submitters tumor predisposition syndrome 3
  • c.1792+50A>G Multiple submitters
  • c.1793-25G>A Multiple submitters
  • c.702+8_702+9delinsTG Multiple submitters tumor predisposition syndrome 3
  • c.702+8A>T Multiple submitters tumor predisposition syndrome 3
  • c.702+9T>G Multiple submitters tumor predisposition syndrome 3
  • c.-34T>C Multiple submitters tumor predisposition syndrome 3
  • p.Arg276= Multiple submitters tumor predisposition syndrome 3
  • p.Asn282= Multiple submitters tumor predisposition syndrome 3
  • p.Asn428Ser Multiple submitters tumor predisposition syndrome 3
  • p.Asp313= Multiple submitters pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 8
  • p.Gln341Arg Multiple submitters tumor predisposition syndrome 3
  • p.Gln359= Multiple submitters hereditary neoplastic syndrome
  • p.Gly404Val Multiple submitters tumor predisposition syndrome 3
  • p.Met251Val Multiple submitters tumor predisposition syndrome 3
  • p.Pro409= Multiple submitters tumor predisposition syndrome 3
  • p.Pro446= Multiple submitters tumor predisposition syndrome 3
  • p.Thr189= Multiple submitters hereditary neoplastic syndrome

Likely benign 746

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

  • c.1006+9A>G Multiple submitters tumor predisposition syndrome 3
  • c.1007-5T>C Multiple submitters hereditary neoplastic syndrome
  • c.1164-3T>C Multiple submitters tumor predisposition syndrome 3
  • c.1164-4T>G Multiple submitters tumor predisposition syndrome 3
  • c.125-4C>T Multiple submitters tumor predisposition syndrome 3
  • c.1370-6dup Multiple submitters tumor predisposition syndrome 3
  • c.1505+8G>A Multiple submitters tumor predisposition syndrome 3
  • c.1594+6C>T Multiple submitters tumor predisposition syndrome 3
  • c.1594+7T>G Multiple submitters tumor predisposition syndrome 3
  • c.1595-17T>G Multiple submitters tumor predisposition syndrome 3
  • c.1595-4C>T Multiple submitters tumor predisposition syndrome 3
  • c.1687-4T>C Multiple submitters tumor predisposition syndrome 3
  • c.1793-20TTTTGT[2] Multiple submitters tumor predisposition syndrome 3
  • c.1793-20TTTTGT[4] Multiple submitters tumor predisposition syndrome 3
  • c.1793-4G>A Multiple submitters hereditary neoplastic syndrome
  • c.256-10A>G Multiple submitters tumor predisposition syndrome 3
  • c.256-12C>T Multiple submitters tumor predisposition syndrome 3
  • c.546+17A>C Multiple submitters tumor predisposition syndrome 3
  • c.547-10C>T Multiple submitters tumor predisposition syndrome 3
  • c.869+12G>A Multiple submitters tumor predisposition syndrome 3
  • c.869+17del Multiple submitters tumor predisposition syndrome 3
  • c.870-21del Multiple submitters
  • c.870-4A>G Multiple submitters hereditary neoplastic syndrome
  • c.9+8G>A Multiple submitters tumor predisposition syndrome 3
  • c.950-6_950-5del Multiple submitters tumor predisposition syndrome 3
  • c.*89A>G Multiple submitters
  • p.Ala102= Multiple submitters hereditary neoplastic syndrome
  • p.Ala172= Multiple submitters hereditary neoplastic syndrome
  • p.Ala350= Multiple submitters tumor predisposition syndrome 3
  • p.Ala356= Multiple submitters hereditary neoplastic syndrome
  • p.Ala435= Multiple submitters hereditary neoplastic syndrome
  • p.Ala490= Multiple submitters tumor predisposition syndrome 3
  • p.Ala532= Multiple submitters hereditary neoplastic syndrome
  • p.Ala599= Multiple submitters tumor predisposition syndrome 3
  • p.Arg212= Multiple submitters hereditary neoplastic syndrome
  • p.Arg240= Multiple submitters tumor predisposition syndrome 3
  • p.Arg328= Multiple submitters tumor predisposition syndrome 3
  • p.Arg345= Multiple submitters tumor predisposition syndrome 3
  • p.Arg367= Multiple submitters hereditary neoplastic syndrome
  • p.Arg372= Multiple submitters tumor predisposition syndrome 3
  • p.Asn225= Multiple submitters tumor predisposition syndrome 3
  • p.Asn24= Multiple submitters hereditary neoplastic syndrome
  • p.Asn428= Multiple submitters tumor predisposition syndrome 3
  • p.Asn471= Multiple submitters tumor predisposition syndrome 3
  • p.Asn516= Multiple submitters tumor predisposition syndrome 3
  • p.Asp175= Multiple submitters tumor predisposition syndrome 3
  • p.Asp206= Multiple submitters tumor predisposition syndrome 3
  • p.Asp312= Multiple submitters hereditary neoplastic syndrome
  • p.Asp403= Multiple submitters tumor predisposition syndrome 3
  • p.Asp420= Multiple submitters tumor predisposition syndrome 3
  • p.Asp563= Multiple submitters hereditary neoplastic syndrome
  • p.Asp578= Multiple submitters hereditary neoplastic syndrome
  • p.Asp617= Multiple submitters hereditary neoplastic syndrome
  • p.Asp77= Multiple submitters tumor predisposition syndrome 3
  • p.Cys166= Multiple submitters hereditary neoplastic syndrome
  • p.Cys329= Multiple submitters tumor predisposition syndrome 3
  • p.Cys382= Multiple submitters hereditary neoplastic syndrome
  • p.Cys451= Multiple submitters hereditary neoplastic syndrome
  • p.Cys59= Multiple submitters hereditary neoplastic syndrome
  • p.Cys605= Multiple submitters hereditary neoplastic syndrome
  • p.Cys621= Multiple submitters hereditary neoplastic syndrome
  • p.Gln160= Multiple submitters hereditary neoplastic syndrome
  • p.Gln214= Multiple submitters hereditary neoplastic syndrome
  • p.Gln287= Multiple submitters tumor predisposition syndrome 3
  • p.Gln341= Multiple submitters tumor predisposition syndrome 3
  • p.Gln354= Multiple submitters hereditary neoplastic syndrome
  • p.Gln358= Multiple submitters tumor predisposition syndrome 3
  • p.Gln389= Multiple submitters hereditary neoplastic syndrome
  • p.Gln429= Multiple submitters tumor predisposition syndrome 3
  • p.Gln505= Multiple submitters hereditary neoplastic syndrome
  • p.Gln52= Multiple submitters tumor predisposition syndrome 3
  • p.Gln623= Multiple submitters tumor predisposition syndrome 3
  • p.Glu128= Multiple submitters hereditary neoplastic syndrome
  • p.Glu134= Multiple submitters tumor predisposition syndrome 3
  • p.Glu293= Multiple submitters tumor predisposition syndrome 3
  • p.Glu344= Multiple submitters tumor predisposition syndrome 3
  • p.Glu450= Multiple submitters hereditary neoplastic syndrome
  • p.Gly170= Multiple submitters hereditary neoplastic syndrome
  • p.Gly186= Multiple submitters hereditary neoplastic syndrome
  • p.Gly20= Multiple submitters tumor predisposition syndrome 3
  • p.Gly267= Multiple submitters tumor predisposition syndrome 3
  • p.Gly272= Multiple submitters hereditary neoplastic syndrome
  • p.Gly274= Multiple submitters hereditary neoplastic syndrome
  • p.Gly319= Multiple submitters tumor predisposition syndrome 3
  • p.Gly443= Multiple submitters hereditary neoplastic syndrome
  • p.Gly551= Multiple submitters hereditary neoplastic syndrome
  • p.Gly594= Multiple submitters hereditary neoplastic syndrome
  • p.His209= Multiple submitters tumor predisposition syndrome 3
  • p.His228= Multiple submitters tumor predisposition syndrome 3
  • p.His381= Multiple submitters hereditary neoplastic syndrome
  • p.His480= Multiple submitters tumor predisposition syndrome 3
  • p.His500= Multiple submitters tumor predisposition syndrome 3
  • p.His82= Multiple submitters tumor predisposition syndrome 3
  • p.Ile114= Multiple submitters tumor predisposition syndrome 3
  • p.Ile210= Multiple submitters tumor predisposition syndrome 3
  • p.Ile241= Multiple submitters tumor predisposition syndrome 3
  • p.Ile275= Multiple submitters hereditary neoplastic syndrome
  • p.Ile399= Multiple submitters tumor predisposition syndrome 3
  • p.Ile423= Multiple submitters hereditary neoplastic syndrome
  • p.Ile463= Multiple submitters tumor predisposition syndrome 3
  • p.Ile49= Multiple submitters tumor predisposition syndrome 3
  • p.Ile535= Multiple submitters tumor predisposition syndrome 3
  • p.Ile568= Multiple submitters hereditary neoplastic syndrome
  • p.Ile586= Multiple submitters tumor predisposition syndrome 3
  • p.Ile620= Multiple submitters tumor predisposition syndrome 3
  • p.Ile78= Multiple submitters tumor predisposition syndrome 3
  • p.Leu104= Multiple submitters hereditary neoplastic syndrome
  • p.Leu110= Multiple submitters hereditary neoplastic syndrome
  • p.Leu150= Multiple submitters tumor predisposition syndrome 3
  • p.Leu197= Multiple submitters tumor predisposition syndrome 3
  • p.Leu203= Multiple submitters hereditary neoplastic syndrome
  • p.Leu213= Multiple submitters tumor predisposition syndrome 3
  • p.Leu233= Multiple submitters hereditary neoplastic syndrome
  • p.Leu239= Multiple submitters hereditary neoplastic syndrome
  • p.Leu323= Multiple submitters hereditary neoplastic syndrome
  • p.Leu332= Multiple submitters tumor predisposition syndrome 3
  • p.Leu348= Multiple submitters tumor predisposition syndrome 3
  • p.Leu374= Multiple submitters tumor predisposition syndrome 3
  • p.Leu413= Multiple submitters tumor predisposition syndrome 3
  • p.Leu452= Multiple submitters hereditary neoplastic syndrome
  • p.Leu453= Multiple submitters tumor predisposition syndrome 3
  • p.Leu466= Multiple submitters hereditary neoplastic syndrome
  • p.Leu483= Multiple submitters hereditary neoplastic syndrome
  • p.Leu515= Multiple submitters hereditary neoplastic syndrome
  • p.Leu533= Multiple submitters tumor predisposition syndrome 3
  • p.Leu538= Multiple submitters tumor predisposition syndrome 3
  • p.Leu555= Multiple submitters tumor predisposition syndrome 3
  • p.Leu559= Multiple submitters tumor predisposition syndrome 3
  • p.Leu57= Multiple submitters hereditary neoplastic syndrome
  • p.Leu574= Multiple submitters hereditary neoplastic syndrome
  • p.Leu603= Multiple submitters hereditary neoplastic syndrome
  • p.Leu61= Multiple submitters tumor predisposition syndrome 3
  • p.Leu84= Multiple submitters hereditary neoplastic syndrome
  • p.Lys121= Multiple submitters hereditary neoplastic syndrome
  • p.Lys247= Multiple submitters hereditary neoplastic syndrome
  • p.Lys353= Multiple submitters tumor predisposition syndrome 3
  • p.Lys355= Multiple submitters tumor predisposition syndrome 3
  • p.Lys412= Multiple submitters tumor predisposition syndrome 3
  • p.Lys430= Multiple submitters tumor predisposition syndrome 3
  • p.Lys469= Multiple submitters hereditary neoplastic syndrome
  • p.Lys90= Multiple submitters hereditary neoplastic syndrome
  • p.Lys91= Multiple submitters hereditary neoplastic syndrome
  • p.Phe125= Multiple submitters hereditary neoplastic syndrome
  • p.Phe162= Multiple submitters tumor predisposition syndrome 3
  • p.Phe315= Multiple submitters tumor predisposition syndrome 3
  • p.Phe546= Multiple submitters hereditary neoplastic syndrome
  • p.Phe62= Multiple submitters hereditary neoplastic syndrome
  • p.Phe81= Multiple submitters hereditary neoplastic syndrome
  • p.Pro13= Multiple submitters tumor predisposition syndrome 3
  • p.Pro190= Multiple submitters hereditary neoplastic syndrome
  • p.Pro192= Multiple submitters tumor predisposition syndrome 3
  • p.Pro279= Multiple submitters tumor predisposition syndrome 3
  • p.Pro311= Multiple submitters hereditary neoplastic syndrome
  • p.Pro34= Multiple submitters tumor predisposition syndrome 3
  • p.Pro35= Multiple submitters hereditary neoplastic syndrome
  • p.Pro371= Multiple submitters tumor predisposition syndrome 3
  • p.Pro392= Multiple submitters tumor predisposition syndrome 3
  • p.Pro475= Multiple submitters tumor predisposition syndrome 3
  • p.Pro491= Multiple submitters hereditary neoplastic syndrome
  • p.Pro537= Multiple submitters tumor predisposition syndrome 3
  • p.Pro593= Multiple submitters tumor predisposition syndrome 3
  • p.Pro601= Multiple submitters tumor predisposition syndrome 3
  • p.Ser103= Multiple submitters tumor predisposition syndrome 3
  • p.Ser147= Multiple submitters hereditary neoplastic syndrome
  • p.Ser178= Multiple submitters hereditary neoplastic syndrome
  • p.Ser193= Multiple submitters hereditary neoplastic syndrome
  • p.Ser237= Multiple submitters hereditary neoplastic syndrome
  • p.Ser243= Multiple submitters tumor predisposition syndrome 3
  • p.Ser250= Multiple submitters tumor predisposition syndrome 3
  • p.Ser283= Multiple submitters hereditary neoplastic syndrome
  • p.Ser294= Multiple submitters tumor predisposition syndrome 3
  • p.Ser303= Multiple submitters hereditary neoplastic syndrome
  • p.Ser314= Multiple submitters tumor predisposition syndrome 3
  • p.Ser322= Multiple submitters tumor predisposition syndrome 3
  • p.Ser368= Multiple submitters tumor predisposition syndrome 3
  • p.Ser377= Multiple submitters hereditary neoplastic syndrome
  • p.Ser417= Multiple submitters tumor predisposition syndrome 3
  • p.Ser421= Multiple submitters tumor predisposition syndrome 3
  • p.Ser472= Multiple submitters tumor predisposition syndrome 3
  • p.Ser478= Multiple submitters hereditary neoplastic syndrome
  • p.Ser511= Multiple submitters tumor predisposition syndrome 3
  • p.Ser571= Multiple submitters hereditary neoplastic syndrome
  • p.Ser582= Multiple submitters tumor predisposition syndrome 3
  • p.Ser609= Multiple submitters tumor predisposition syndrome 3
  • p.Ser63= Multiple submitters hereditary neoplastic syndrome
  • p.Ser99= Multiple submitters hereditary neoplastic syndrome
  • p.Thr105= Multiple submitters tumor predisposition syndrome 3
  • p.Thr127= Multiple submitters hereditary neoplastic syndrome
  • p.Thr149= Multiple submitters tumor predisposition syndrome 3
  • p.Thr187= Multiple submitters tumor predisposition syndrome 3
  • p.Thr217= Multiple submitters hereditary neoplastic syndrome
  • p.Thr257= Multiple submitters hereditary neoplastic syndrome
  • p.Thr298= Multiple submitters tumor predisposition syndrome 3
  • p.Thr346= Multiple submitters hereditary neoplastic syndrome
  • p.Thr408= Multiple submitters hereditary neoplastic syndrome
  • p.Thr416= Multiple submitters tumor predisposition syndrome 3
  • p.Thr459= Multiple submitters tumor predisposition syndrome 3
  • p.Thr48= Multiple submitters hereditary neoplastic syndrome
  • p.Thr545= Multiple submitters hereditary neoplastic syndrome
  • p.Thr547= Multiple submitters hereditary neoplastic syndrome
  • p.Thr552= Multiple submitters hereditary neoplastic syndrome
  • p.Thr97= Multiple submitters hereditary neoplastic syndrome
  • p.Tyr223= Multiple submitters hereditary neoplastic syndrome
  • p.Tyr271= Multiple submitters tumor predisposition syndrome 3
  • p.Tyr324= Multiple submitters tumor predisposition syndrome 3
  • p.Tyr369= Multiple submitters tumor predisposition syndrome 3
  • p.Tyr600= Multiple submitters tumor predisposition syndrome 3
  • p.Tyr610= Multiple submitters hereditary neoplastic syndrome
  • p.Tyr9= Multiple submitters hereditary neoplastic syndrome
  • p.Val138= Multiple submitters tumor predisposition syndrome 3
  • p.Val183= Multiple submitters hereditary neoplastic syndrome
  • p.Val196= Multiple submitters hereditary neoplastic syndrome
  • p.Val277= Multiple submitters tumor predisposition syndrome 3
  • p.Val29= Multiple submitters tumor predisposition syndrome 3
  • p.Val326= Multiple submitters hereditary neoplastic syndrome
  • p.Val439= Multiple submitters hereditary neoplastic syndrome
  • p.Val47= Multiple submitters hereditary neoplastic syndrome
  • p.Val519= Multiple submitters tumor predisposition syndrome 3
  • p.Val536= Multiple submitters hereditary neoplastic syndrome
  • p.Val541= Multiple submitters hereditary neoplastic syndrome
  • p.Val554= Multiple submitters tumor predisposition syndrome 3
  • p.Val88= Multiple submitters hereditary neoplastic syndrome
  • c.10-117T>C Single submitter
  • c.10-11T>C Single submitter tumor predisposition syndrome 3
  • c.10-12_10-8del Single submitter tumor predisposition syndrome 3
  • c.10-12C>T Single submitter tumor predisposition syndrome 3
  • c.10-13T>C Single submitter tumor predisposition syndrome 3
  • c.10-15C>T Single submitter tumor predisposition syndrome 3
  • c.10-16T>G Single submitter tumor predisposition syndrome 3
  • c.10-18dup Single submitter tumor predisposition syndrome 3
  • c.10-18T>C Single submitter tumor predisposition syndrome 3
  • c.10-19C>T Single submitter tumor predisposition syndrome 3
  • c.10-316T>A Single submitter
  • c.10-5T>G Single submitter hereditary neoplastic syndrome
  • c.10-6_10-3del Single submitter tumor predisposition syndrome 3
  • c.10-6C>G Single submitter tumor predisposition syndrome 3
  • c.10-9T>C Single submitter tumor predisposition syndrome 3
  • c.1006+10T>C Single submitter tumor predisposition syndrome 3
  • c.1006+11G>A Single submitter tumor predisposition syndrome 3
  • c.1006+13A>G Single submitter tumor predisposition syndrome 3
  • c.1006+15_1006+16inv Single submitter tumor predisposition syndrome 3
  • c.1006+17T>C Single submitter tumor predisposition syndrome 3
  • c.1006+33A>G Single submitter
  • c.1006+7C>T Single submitter tumor predisposition syndrome 3
  • c.1006+8dup Single submitter tumor predisposition syndrome 3
  • c.1006+9_1006+10del Single submitter tumor predisposition syndrome 3
  • c.1007-11A>T Single submitter tumor predisposition syndrome 3
  • c.1007-16T>C Single submitter tumor predisposition syndrome 3
  • c.1007-17A>G Single submitter tumor predisposition syndrome 3
  • c.1007-19A>G Single submitter tumor predisposition syndrome 3
  • c.1007-20A>T Single submitter tumor predisposition syndrome 3
  • c.1007-319G>A Single submitter
  • c.1007-35_1007-18del Single submitter tumor predisposition syndrome 3
  • c.1007-4A>G Single submitter tumor predisposition syndrome 3
  • c.1007-7T>C Single submitter tumor predisposition syndrome 3
  • c.1007-8C>A Single submitter tumor predisposition syndrome 3
  • c.1007-8C>G Single submitter tumor predisposition syndrome 3
  • c.1163+11T>C Single submitter tumor predisposition syndrome 3
  • c.1163+11T>G Single submitter tumor predisposition syndrome 3
  • c.1163+13C>G Single submitter tumor predisposition syndrome 3
  • c.1163+13C>T Single submitter tumor predisposition syndrome 3
  • c.1163+14A>C Single submitter tumor predisposition syndrome 3
  • c.1163+14A>G Single submitter tumor predisposition syndrome 3
  • c.1163+14A>T Single submitter tumor predisposition syndrome 3
  • c.1163+17A>G Single submitter tumor predisposition syndrome 3
  • c.1163+19_1163+20insTTCCATAATAC Single submitter tumor predisposition syndrome 3
  • c.1163+29T>G Single submitter
  • c.1163+8T>C Single submitter tumor predisposition syndrome 3
  • c.1163+9T>C Single submitter tumor predisposition syndrome 3
  • c.1164-10A>T Single submitter tumor predisposition syndrome 3
  • c.1164-11A>G Single submitter tumor predisposition syndrome 3
  • c.1164-13C>A Single submitter tumor predisposition syndrome 3
  • c.1164-14_1164-13delinsAT Single submitter tumor predisposition syndrome 3
  • c.1164-14G>A Single submitter tumor predisposition syndrome 3
  • c.1164-16T>C Single submitter tumor predisposition syndrome 3
  • c.1164-17A>G Single submitter tumor predisposition syndrome 3
  • c.1164-19T>G Single submitter tumor predisposition syndrome 3
  • c.1164-25A>G Single submitter
  • c.1164-29T>A Single submitter
  • c.1164-6T>C Single submitter tumor predisposition syndrome 3
  • c.1164-9T>C Single submitter tumor predisposition syndrome 3
  • c.124+10A>C Single submitter tumor predisposition syndrome 3
  • c.124+14C>T Single submitter tumor predisposition syndrome 3
  • c.124+15T>C Single submitter tumor predisposition syndrome 3
  • c.124+175T>C Single submitter
  • c.124+18_124+19del Single submitter tumor predisposition syndrome 3
  • c.124+18T>A Single submitter tumor predisposition syndrome 3
  • c.124+18T>C Single submitter tumor predisposition syndrome 3
  • c.124+18T>G Single submitter tumor predisposition syndrome 3
  • c.124+19G>A Single submitter tumor predisposition syndrome 3
  • c.124+20G>A Single submitter tumor predisposition syndrome 3
  • c.124+20G>T Single submitter tumor predisposition syndrome 3
  • c.124+7A>G Single submitter tumor predisposition syndrome 3
  • c.124+7A>T Single submitter tumor predisposition syndrome 3
  • c.125-11G>A Single submitter tumor predisposition syndrome 3
  • c.125-14T>A Single submitter tumor predisposition syndrome 3
  • c.125-16T>C Single submitter tumor predisposition syndrome 3
  • c.125-17A>G Single submitter tumor predisposition syndrome 3
  • c.125-18T>C Single submitter tumor predisposition syndrome 3
  • c.125-277G>A Single submitter

Uncertain significance 1263

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