Sugi Variant

Sugi Variant/BMPR1A

BMPR1A — 2501 ClinVar variants

All ClinVar germline BMPR1A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 1083 flagged for review →

178 Pathogenic · 22 Pathogenic/Likely pathogenic · 69 Likely pathogenic · 177 Conflicting · 125 Benign · 215 Benign/Likely benign · 534 Likely benign · 1181 Uncertain significance

Full BMPR1A gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 1083

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 94

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

Predicted LoF vs a conflicting call 3

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 764

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 764

Predictors split 221

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 221

All BMPR1A variants

Pathogenic 178

  • c.430+1G>A Multiple submitters juvenile polyposis syndrome
  • p.Arg152fs Multiple submitters juvenile polyposis syndrome
  • p.Arg228Ter Multiple submitters BMPR1A-Related Polyposis Syndrome
  • p.Arg244Ter Multiple submitters hereditary neoplastic syndrome
  • p.Arg273Ter Multiple submitters juvenile polyposis syndrome
  • p.Arg361Ter Multiple submitters juvenile polyposis syndrome
  • p.Arg442fs Multiple submitters hereditary neoplastic syndrome
  • p.Asn73Ter Multiple submitters juvenile polyposis syndrome
  • p.Asp38fs Multiple submitters juvenile polyposis syndrome
  • p.Gln117Ter Multiple submitters juvenile polyposis syndrome
  • p.Gln132Ter Multiple submitters juvenile polyposis syndrome
  • p.Gln195Ter Multiple submitters generalized juvenile polyposis/juvenile polyposis coli
  • p.Gln212Ter Multiple submitters juvenile polyposis syndrome
  • p.Gln22Ter Multiple submitters juvenile polyposis syndrome
  • p.Gln353Ter Multiple submitters juvenile polyposis syndrome
  • p.Gln423Ter Multiple submitters juvenile polyposis syndrome
  • p.Gln454Ter Multiple submitters juvenile polyposis syndrome
  • p.Glu256fs Multiple submitters juvenile polyposis syndrome
  • p.Glu276fs Multiple submitters juvenile polyposis syndrome
  • p.Glu452Ter Multiple submitters juvenile polyposis syndrome
  • p.Glu45fs Multiple submitters hereditary neoplastic syndrome
  • p.Glu88Ter Multiple submitters juvenile polyposis syndrome
  • p.Gly47Ter Multiple submitters juvenile polyposis syndrome
  • p.Gly92fs Multiple submitters hereditary neoplastic syndrome
  • p.His312fs Multiple submitters juvenile polyposis syndrome
  • p.Ile308fs Multiple submitters juvenile polyposis syndrome
  • p.Leu15fs Multiple submitters hereditary neoplastic syndrome
  • p.Leu193fs Multiple submitters juvenile polyposis syndrome
  • p.Leu317fs Multiple submitters polyposis syndrome, hereditary mixed, 2
  • p.Leu59fs Multiple submitters juvenile polyposis syndrome
  • p.Lys297Ter Multiple submitters hereditary neoplastic syndrome
  • p.Lys355fs Multiple submitters juvenile polyposis syndrome
  • p.Lys419Ter Multiple submitters juvenile polyposis syndrome
  • p.Lys43fs Multiple submitters hereditary neoplastic syndrome
  • p.Met1Val Multiple submitters juvenile polyposis syndrome
  • p.Phe58_Leu59insTer Multiple submitters juvenile polyposis syndrome
  • p.Phe83fs Multiple submitters juvenile polyposis syndrome
  • p.Pro136fs Multiple submitters juvenile polyposis syndrome
  • p.Pro140fs Multiple submitters juvenile polyposis syndrome
  • p.Ser184Ter Multiple submitters juvenile polyposis syndrome
  • p.Ser337Ter Multiple submitters juvenile polyposis syndrome
  • p.Thr121fs Multiple submitters juvenile polyposis syndrome
  • p.Thr309fs Multiple submitters juvenile polyposis syndrome
  • p.Thr33fs Multiple submitters juvenile polyposis syndrome
  • p.Trp153Ter Multiple submitters juvenile polyposis syndrome
  • p.Trp302Ter Multiple submitters juvenile polyposis syndrome
  • p.Trp438Ter Multiple submitters hereditary neoplastic syndrome
  • p.Trp487Ter Multiple submitters juvenile polyposis syndrome
  • p.Trp504Ter Multiple submitters juvenile polyposis syndrome
  • p.Tyr189Ter Multiple submitters juvenile polyposis syndrome
  • p.Tyr245Ter Multiple submitters juvenile polyposis syndrome
  • p.Tyr425Ter Multiple submitters juvenile polyposis syndrome
  • p.Tyr458Ter Multiple submitters polyposis syndrome, hereditary mixed, 2
  • p.Tyr62fs Multiple submitters juvenile polyposis syndrome
  • c.1167-2A>G Single submitter juvenile polyposis syndrome
  • c.1473+2T>C Single submitter juvenile polyposis syndrome
  • c.1474-1G>C Single submitter juvenile polyposis syndrome
  • c.530+3A>G Single submitter juvenile polyposis syndrome
  • c.68-1G>C Single submitter hereditary neoplastic syndrome
  • c.68-3710_68-3696delinsCC Single submitter juvenile polyposis syndrome
  • c.-152-?_1473+?del Single submitter hereditary neoplastic syndrome
  • c.-152-?_*1469del Single submitter generalized juvenile polyposis/juvenile polyposis coli
  • c.-547_-268+1del Single submitter generalized juvenile polyposis/juvenile polyposis coli
  • p.Ala161fs Single submitter hereditary neoplastic syndrome
  • p.Ala166fs Single submitter juvenile polyposis syndrome
  • p.Ala294fs Single submitter hereditary neoplastic syndrome
  • p.Ala359fs Single submitter juvenile polyposis syndrome
  • p.Ala51fs Single submitter generalized juvenile polyposis/juvenile polyposis coli
  • p.Ala71_Ile72insTer Single submitter juvenile polyposis syndrome
  • p.Ala97fs Single submitter hereditary neoplastic syndrome
  • p.Arg120fs Single submitter juvenile polyposis syndrome
  • p.Arg191fs Single submitter juvenile polyposis syndrome
  • p.Arg329fs Single submitter juvenile polyposis syndrome
  • p.Asn367fs Single submitter hereditary neoplastic syndrome
  • p.Asn418fs Single submitter juvenile polyposis syndrome
  • p.Asp196fs Single submitter hereditary neoplastic syndrome
  • p.Asp295delinsGlySerTer Single submitter hereditary neoplastic syndrome
  • p.Asp319Ter Single submitter juvenile polyposis syndrome
  • p.Asp395fs Single submitter hereditary neoplastic syndrome
  • p.Asp54fs Single submitter juvenile polyposis syndrome
  • p.Asp69fs Single submitter hereditary neoplastic syndrome
  • p.Cys100Ter Single submitter hereditary neoplastic syndrome
  • p.Cys125fs Single submitter juvenile polyposis syndrome
  • p.Cys125Gly Single submitter hereditary neoplastic syndrome
  • p.Cys180Ter Single submitter
  • p.Cys340fs Single submitter juvenile polyposis syndrome
  • p.Cys343fs Single submitter juvenile polyposis syndrome
  • p.Cys343Ter Single submitter juvenile polyposis syndrome
  • p.Cys376_Cys377insTer Single submitter juvenile polyposis syndrome
  • p.Cys377_Ile378delinsTer Single submitter hereditary neoplastic syndrome
  • p.Cys475fs Single submitter juvenile polyposis syndrome
  • p.Cys63fs Single submitter juvenile polyposis syndrome
  • p.Cys63Ter Single submitter hereditary neoplastic syndrome
  • p.Cys67Ter Single submitter familial colorectal cancer type X
  • p.Cys82fs Single submitter juvenile polyposis syndrome
  • p.Cys82Ter Single submitter hereditary neoplastic syndrome
  • p.Gln109fs Single submitter hereditary neoplastic syndrome
  • p.Gln117fs Single submitter juvenile polyposis syndrome
  • p.Gln212fs Single submitter juvenile polyposis syndrome
  • p.Gln227Ter Single submitter hereditary neoplastic syndrome
  • p.Gln233fs Single submitter hereditary neoplastic syndrome
  • p.Gln235Ter Single submitter generalized juvenile polyposis/juvenile polyposis coli
  • p.Gln24Ter Single submitter juvenile polyposis syndrome
  • p.Gln304Ter Single submitter juvenile polyposis syndrome
  • p.Gln41Ter Single submitter juvenile polyposis syndrome
  • p.Gln423fs Single submitter juvenile polyposis syndrome
  • p.Gln91Ter Single submitter hereditary neoplastic syndrome
  • p.Glu123fs Single submitter
  • p.Glu348fs Single submitter juvenile polyposis syndrome
  • p.Glu393Ter Single submitter
  • p.Glu411fs Single submitter juvenile polyposis syndrome
  • p.Glu53fs Single submitter juvenile polyposis syndrome
  • p.Glu88fs Single submitter juvenile polyposis syndrome
  • p.Glu93fs Single submitter hereditary neoplastic syndrome
  • p.Gly105Ter Single submitter juvenile polyposis syndrome
  • p.Gly217fs Single submitter juvenile polyposis syndrome
  • p.Gly315Ter Single submitter juvenile polyposis syndrome
  • p.Gly341fs Single submitter juvenile polyposis syndrome
  • p.Gly354fs Single submitter hereditary neoplastic syndrome
  • p.Gly374fs Single submitter juvenile polyposis syndrome
  • p.Gly403fs Single submitter juvenile polyposis syndrome
  • p.Gly65fs Single submitter juvenile polyposis syndrome
  • p.Gly99fs Single submitter juvenile polyposis syndrome
  • p.Ile122fs Single submitter juvenile polyposis syndrome
  • p.Ile277fs Single submitter juvenile polyposis syndrome
  • p.Ile292fs Single submitter hereditary neoplastic syndrome
  • p.Ile368fs Single submitter juvenile polyposis syndrome
  • p.Ile378fs Single submitter juvenile polyposis syndrome
  • p.Ile449fs Single submitter hereditary neoplastic syndrome
  • p.Leu156Ter Single submitter juvenile polyposis syndrome
  • p.Leu224fs Single submitter juvenile polyposis syndrome
  • p.Leu225fs Single submitter juvenile polyposis syndrome
  • p.Leu289fs Single submitter juvenile polyposis syndrome
  • p.Leu332fs Single submitter hereditary neoplastic syndrome
  • p.Leu398fs Single submitter juvenile polyposis syndrome
  • p.Leu413fs Single submitter juvenile polyposis syndrome
  • p.Leu435fs Single submitter hereditary neoplastic syndrome
  • p.Lys322Ter Single submitter hereditary neoplastic syndrome
  • p.Lys372Ter Single submitter generalized juvenile polyposis/juvenile polyposis coli
  • p.Lys477fs Single submitter hereditary neoplastic syndrome
  • p.Met283fs Single submitter juvenile polyposis syndrome
  • p.Phe147fs Single submitter juvenile polyposis syndrome
  • p.Phe320_Leu321insTer Single submitter hereditary neoplastic syndrome
  • p.Phe320fs Single submitter juvenile polyposis syndrome
  • p.Pro2delinsThrGlnLeuTyrIleTyrIleArgSerPheThrArgLysSerHisTer Single submitter juvenile polyposis syndrome
  • p.Pro397_Leu398insTer Single submitter hereditary neoplastic syndrome
  • p.Ser113fs Single submitter juvenile polyposis syndrome
  • p.Ser171fs Single submitter juvenile polyposis syndrome
  • p.Ser185fs Single submitter juvenile polyposis syndrome
  • p.Ser220fs Single submitter hereditary neoplastic syndrome
  • p.Ser365fs Single submitter hereditary neoplastic syndrome
  • p.Ser37_Asp38insHisGlyThrGlyIle Single submitter generalized juvenile polyposis/juvenile polyposis coli
  • p.Ser416fs Single submitter hereditary neoplastic syndrome
  • p.Ser501Ter Single submitter juvenile polyposis syndrome
  • p.Thr121_Ile122insTer Single submitter hereditary neoplastic syndrome
  • p.Thr265fs Single submitter hereditary neoplastic syndrome
  • p.Thr275fs Single submitter hereditary neoplastic syndrome
  • p.Thr325fs Single submitter juvenile polyposis syndrome
  • p.Thr391fs Single submitter juvenile polyposis syndrome
  • p.Trp249Ter Single submitter juvenile polyposis syndrome
  • p.Trp253Ter Single submitter juvenile polyposis syndrome
  • p.Trp271fs Single submitter juvenile polyposis syndrome
  • p.Trp271Ter Single submitter juvenile polyposis syndrome
  • p.Tyr103Ter Single submitter hereditary neoplastic syndrome
  • p.Tyr179fs Single submitter hereditary neoplastic syndrome
  • p.Tyr245fs Single submitter juvenile polyposis syndrome
  • p.Tyr278Ter Single submitter juvenile polyposis syndrome
  • p.Tyr318fs Single submitter juvenile polyposis syndrome
  • p.Tyr336fs Single submitter juvenile polyposis syndrome
  • p.Tyr336Ter Single submitter hereditary neoplastic syndrome
  • p.Tyr458fs Single submitter juvenile polyposis syndrome
  • p.Tyr467Ter Single submitter hereditary neoplastic syndrome
  • p.Val141fs Single submitter hereditary neoplastic syndrome
  • p.Val162fs Single submitter juvenile polyposis syndrome
  • p.Val258fs Single submitter juvenile polyposis syndrome
  • p.Val281fs Single submitter juvenile polyposis syndrome
  • p.Val385fs Single submitter juvenile polyposis syndrome
  • p.Gln239Ter No assertion criteria juvenile polyposis syndrome

Pathogenic/Likely pathogenic 22

  • c.1473+1G>A Multiple submitters juvenile polyposis syndrome
  • c.1473+1G>C Multiple submitters hereditary neoplastic syndrome
  • c.67+1G>A Multiple submitters polyposis syndrome, hereditary mixed, 2
  • c.676-1G>A Multiple submitters hereditary neoplastic syndrome
  • c.676-2A>G Multiple submitters juvenile polyposis syndrome
  • c.676delG Multiple submitters juvenile polyposis syndrome
  • c.68-1G>A Multiple submitters juvenile polyposis syndrome
  • p.Arg119Cys Multiple submitters juvenile polyposis syndrome
  • p.Arg152Ter Multiple submitters juvenile polyposis syndrome
  • p.Arg494Ter Multiple submitters hereditary neoplastic syndrome
  • p.Arg9Ter Multiple submitters hereditary neoplastic syndrome
  • p.Cys124Arg Multiple submitters hereditary neoplastic syndrome
  • p.Cys124Tyr Multiple submitters juvenile polyposis syndrome
  • p.Gln233Ter Multiple submitters hereditary neoplastic syndrome
  • p.Leu59Ter Multiple submitters generalized juvenile polyposis/juvenile polyposis coli
  • p.Met1Ile Multiple submitters juvenile polyposis syndrome
  • p.Met1Leu Multiple submitters juvenile polyposis syndrome
  • p.Pro465fs Multiple submitters juvenile polyposis syndrome
  • p.Tyr14fs Multiple submitters juvenile polyposis syndrome
  • p.Tyr176Ter Multiple submitters polyposis syndrome, hereditary mixed, 2
  • p.Tyr407Ter Multiple submitters hereditary neoplastic syndrome
  • p.Tyr5Ter Multiple submitters hereditary neoplastic syndrome

Likely pathogenic 69

  • c.1166+1G>A Multiple submitters hereditary neoplastic syndrome
  • c.1343-2A>G Multiple submitters juvenile polyposis syndrome
  • c.230+1G>A Multiple submitters hereditary neoplastic syndrome
  • c.333+1G>A Multiple submitters hereditary neoplastic syndrome
  • c.431-1G>C Multiple submitters juvenile polyposis syndrome
  • c.531-1G>T Multiple submitters juvenile polyposis syndrome
  • c.868+1G>A Multiple submitters hereditary neoplastic syndrome
  • p.Cys124Ser Multiple submitters juvenile polyposis syndrome
  • p.Glu411Lys Multiple submitters juvenile polyposis syndrome
  • p.Gly144Arg Multiple submitters juvenile polyposis syndrome ⚠
  • c.1166+2T>G Single submitter hereditary neoplastic syndrome
  • c.1166+731A>G Single submitter hereditary neoplastic syndrome
  • c.1167-1G>A Single submitter hereditary neoplastic syndrome
  • c.1342+2_1342+4del Single submitter juvenile polyposis syndrome
  • c.1342+2T>C Single submitter juvenile polyposis syndrome
  • c.1342+2T>G Single submitter juvenile polyposis syndrome
  • c.1473_1473+4del Single submitter juvenile polyposis syndrome
  • c.1473+1G>T Single submitter hereditary neoplastic syndrome
  • c.1474-1G>A Single submitter hereditary neoplastic syndrome
  • c.1474-2A>G Single submitter hereditary neoplastic syndrome
  • c.231-1G>C Single submitter juvenile polyposis syndrome
  • c.231-2A>G Single submitter juvenile polyposis syndrome
  • c.333+1362_531-5517del Single submitter
  • c.333+2T>A Single submitter juvenile polyposis syndrome
  • c.430_430+55del Single submitter juvenile polyposis syndrome
  • c.430+1G>T Single submitter juvenile polyposis syndrome
  • c.431-1G>A Single submitter juvenile polyposis syndrome
  • c.431-2A>T Single submitter juvenile polyposis syndrome
  • c.530+1G>T Single submitter juvenile polyposis syndrome
  • c.531-2A>T Single submitter
  • c.67+2T>C Single submitter juvenile polyposis syndrome
  • c.675_675+1delinsTT Single submitter juvenile polyposis syndrome
  • c.675+1G>C Single submitter juvenile polyposis syndrome
  • c.675+1G>T Single submitter juvenile polyposis syndrome
  • c.676-4_676-1dup Single submitter hereditary neoplastic syndrome
  • c.868+2_868+4del Single submitter hereditary neoplastic syndrome
  • c.869-2_871del Single submitter juvenile polyposis syndrome
  • p.Ala338Asp Single submitter hereditary neoplastic syndrome
  • p.Arg361Pro Single submitter hereditary neoplastic syndrome
  • p.Arg471fs Single submitter juvenile polyposis syndrome
  • p.Arg480Gly Single submitter hereditary neoplastic syndrome
  • p.Arg511fs Single submitter generalized juvenile polyposis/juvenile polyposis coli
  • p.Arg9fs Single submitter hereditary neoplastic syndrome
  • p.Asp27fs Single submitter polyposis syndrome, hereditary mixed, 2
  • p.Cys100Tyr Single submitter hereditary neoplastic syndrome
  • p.Cys376fs Single submitter juvenile polyposis syndrome
  • p.Cys67Phe Single submitter hereditary neoplastic syndrome
  • p.Cys82Phe Single submitter hereditary neoplastic syndrome
  • p.Gln235fs Single submitter polyposis syndrome, hereditary mixed, 2
  • p.Glu415fs Single submitter
  • p.Glu415Ter Single submitter BMPR1A-related disorder
  • p.Gly300fs Single submitter juvenile polyposis syndrome
  • p.Gly341Cys Single submitter hereditary neoplastic syndrome
  • p.Gly99Arg Single submitter hereditary neoplastic syndrome ⚠
  • p.His346Arg Single submitter hereditary neoplastic syndrome
  • p.His346Asp Single submitter hereditary neoplastic syndrome
  • p.Leu326fs Single submitter polyposis syndrome, hereditary mixed, 2
  • p.Leu521Pro Single submitter hereditary neoplastic syndrome
  • p.Lys498Ter Single submitter hereditary neoplastic syndrome
  • p.Met1del Single submitter juvenile polyposis syndrome
  • p.Met470Arg Single submitter hereditary neoplastic syndrome
  • p.Met470Lys Single submitter juvenile polyposis syndrome
  • p.Thr328delinsAsnTer Single submitter BMPR1A-related disorder
  • p.Thr49fs Single submitter
  • p.Tyr306fs Single submitter juvenile polyposis syndrome
  • c.868+2dup No assertion criteria polyposis syndrome, hereditary mixed, 2
  • p.Gly23Arg No assertion criteria polyposis syndrome, hereditary mixed, 2
  • p.Ser205Ter No assertion criteria juvenile polyposis syndrome
  • p.Ser39fs No assertion criteria generalized juvenile polyposis/juvenile polyposis coli

Conflicting classifications of pathogenicity 177

Benign 125

Benign/Likely benign 215

  • c.1474-4dup Multiple submitters hereditary neoplastic syndrome
  • c.1474-9A>G Multiple submitters polyposis syndrome, hereditary mixed, 2
  • c.230+37G>A Multiple submitters
  • c.231-10del Multiple submitters juvenile polyposis syndrome
  • c.231-10dup Multiple submitters hereditary neoplastic syndrome
  • c.431-26T>A Multiple submitters juvenile polyposis syndrome
  • c.431-30A>G Multiple submitters
  • c.530+12T>C Multiple submitters hereditary neoplastic syndrome
  • c.530+13T>G Multiple submitters juvenile polyposis syndrome
  • c.67+14C>G Multiple submitters juvenile polyposis syndrome
  • c.676-5T>C Multiple submitters juvenile polyposis syndrome
  • c.676-6A>C Multiple submitters polyposis syndrome, hereditary mixed, 2
  • c.68-12A>G Multiple submitters hereditary neoplastic syndrome
  • c.-25A>G Multiple submitters juvenile polyposis syndrome
  • c.*1T>C Multiple submitters juvenile polyposis syndrome
  • p.Ala116= Multiple submitters juvenile polyposis syndrome
  • p.Ala13= Multiple submitters hereditary neoplastic syndrome
  • p.Ala231= Multiple submitters juvenile polyposis syndrome
  • p.Ala259= Multiple submitters polyposis syndrome, hereditary mixed, 2
  • p.Ala293= Multiple submitters juvenile polyposis syndrome
  • p.Ala324= Multiple submitters juvenile polyposis syndrome
  • p.Ala330= Multiple submitters juvenile polyposis syndrome
  • p.Ala335= Multiple submitters hereditary neoplastic syndrome
  • p.Ala339= Multiple submitters juvenile polyposis syndrome
  • p.Ala359= Multiple submitters hereditary neoplastic syndrome
  • p.Ala379= Multiple submitters hereditary neoplastic syndrome
  • p.Ala384= Multiple submitters juvenile polyposis syndrome
  • p.Ala428= Multiple submitters hereditary neoplastic syndrome
  • p.Ala441= Multiple submitters juvenile polyposis syndrome
  • p.Ala495= Multiple submitters hereditary neoplastic syndrome
  • p.Ala505= Multiple submitters juvenile polyposis syndrome
  • p.Ala51= Multiple submitters juvenile polyposis syndrome
  • p.Ala71= Multiple submitters juvenile polyposis syndrome
  • p.Arg152= Multiple submitters juvenile polyposis syndrome
  • p.Arg186= Multiple submitters juvenile polyposis syndrome
  • p.Arg187= Multiple submitters juvenile polyposis syndrome
  • p.Arg20= Multiple submitters hereditary neoplastic syndrome
  • p.Arg228= Multiple submitters juvenile polyposis syndrome
  • p.Arg254= Multiple submitters juvenile polyposis syndrome
  • p.Arg406= Multiple submitters hereditary neoplastic syndrome
  • p.Arg478= Multiple submitters juvenile polyposis syndrome
  • p.Asn128= Multiple submitters juvenile polyposis syndrome
  • p.Asn367= Multiple submitters juvenile polyposis syndrome
  • p.Asn373= Multiple submitters hereditary neoplastic syndrome
  • p.Asn392= Multiple submitters juvenile polyposis syndrome
  • p.Asn488= Multiple submitters juvenile polyposis syndrome
  • p.Asn74= Multiple submitters juvenile polyposis syndrome
  • p.Asp107= Multiple submitters hereditary neoplastic syndrome
  • p.Asp112= Multiple submitters juvenile polyposis syndrome
  • p.Asp27= Multiple submitters hereditary neoplastic syndrome
  • p.Asp295= Multiple submitters juvenile polyposis syndrome
  • p.Asp319= Multiple submitters juvenile polyposis syndrome
  • p.Asp327= Multiple submitters juvenile polyposis syndrome
  • p.Asp362= Multiple submitters juvenile polyposis syndrome
  • p.Asp390= Multiple submitters hereditary neoplastic syndrome
  • p.Asp40= Multiple submitters juvenile polyposis syndrome
  • p.Asp414= Multiple submitters juvenile polyposis syndrome
  • p.Asp429= Multiple submitters juvenile polyposis syndrome
  • p.Asp54= Multiple submitters juvenile polyposis syndrome
  • p.Asp69= Multiple submitters juvenile polyposis syndrome
  • p.Asp70= Multiple submitters hereditary neoplastic syndrome
  • p.Cys100= Multiple submitters juvenile polyposis syndrome
  • p.Cys124= Multiple submitters hereditary neoplastic syndrome
  • p.Cys125= Multiple submitters juvenile polyposis syndrome
  • p.Cys130= Multiple submitters juvenile polyposis syndrome
  • p.Cys343= Multiple submitters hereditary neoplastic syndrome
  • p.Cys63= Multiple submitters juvenile polyposis syndrome
  • p.Cys82= Multiple submitters hereditary neoplastic syndrome
  • p.Gln109= Multiple submitters hereditary neoplastic syndrome
  • p.Gln132= Multiple submitters juvenile polyposis syndrome
  • p.Gln135= Multiple submitters hereditary neoplastic syndrome
  • p.Gln214= Multiple submitters juvenile polyposis syndrome
  • p.Gln235= Multiple submitters juvenile polyposis syndrome
  • p.Gln454= Multiple submitters juvenile polyposis syndrome
  • p.Glu197= Multiple submitters juvenile polyposis syndrome
  • p.Glu276= Multiple submitters juvenile polyposis syndrome
  • p.Glu348= Multiple submitters hereditary neoplastic syndrome
  • p.Glu472= Multiple submitters juvenile polyposis syndrome
  • p.Glu526= Multiple submitters juvenile polyposis syndrome
  • p.Glu87= Multiple submitters juvenile polyposis syndrome
  • p.Gly105= Multiple submitters juvenile polyposis syndrome
  • p.Gly149= Multiple submitters juvenile polyposis syndrome
  • p.Gly217= Multiple submitters juvenile polyposis syndrome
  • p.Gly219= Multiple submitters juvenile polyposis syndrome
  • p.Gly221= Multiple submitters juvenile polyposis syndrome
  • p.Gly23= Multiple submitters juvenile polyposis syndrome
  • p.Gly243= Multiple submitters juvenile polyposis syndrome
  • p.Gly255= Multiple submitters juvenile polyposis syndrome
  • p.Gly315= Multiple submitters hereditary neoplastic syndrome
  • p.Gly32= Multiple submitters hereditary neoplastic syndrome
  • p.Gly341= Multiple submitters juvenile polyposis syndrome
  • p.Gly351= Multiple submitters hereditary neoplastic syndrome
  • p.Gly354= Multiple submitters juvenile polyposis syndrome
  • p.Gly374= Multiple submitters hereditary neoplastic syndrome
  • p.Gly382= Multiple submitters juvenile polyposis syndrome
  • p.Gly80= Multiple submitters juvenile polyposis syndrome
  • p.Gly92= Multiple submitters hereditary neoplastic syndrome
  • p.His31= Multiple submitters juvenile polyposis syndrome
  • p.His344= Multiple submitters juvenile polyposis syndrome
  • p.His360= Multiple submitters juvenile polyposis syndrome
  • p.His421= Multiple submitters hereditary neoplastic syndrome
  • p.His66= Multiple submitters juvenile polyposis syndrome
  • p.Ile122= Multiple submitters juvenile polyposis syndrome
  • p.Ile151= Multiple submitters juvenile polyposis syndrome
  • p.Ile158= Multiple submitters juvenile polyposis syndrome
  • p.Ile183= Multiple submitters juvenile polyposis syndrome
  • p.Ile200= Multiple submitters hereditary neoplastic syndrome
  • p.Ile210= Multiple submitters juvenile polyposis syndrome
  • p.Ile296= Multiple submitters juvenile polyposis syndrome
  • p.Ile368= Multiple submitters hereditary neoplastic syndrome
  • p.Ile430= Multiple submitters juvenile polyposis syndrome
  • p.Ile437= Multiple submitters juvenile polyposis syndrome
  • p.Ile445= Multiple submitters juvenile polyposis syndrome
  • p.Ile482= Multiple submitters juvenile polyposis syndrome
  • p.Ile517= Multiple submitters hereditary neoplastic syndrome
  • p.Ile532= Multiple submitters hereditary neoplastic syndrome
  • p.Ile8= Multiple submitters juvenile polyposis syndrome
  • p.Leu10= Multiple submitters juvenile polyposis syndrome
  • p.Leu134= Multiple submitters juvenile polyposis syndrome
  • p.Leu154= Multiple submitters hereditary neoplastic syndrome
  • p.Leu193= Multiple submitters hereditary neoplastic syndrome
  • p.Leu206= Multiple submitters juvenile polyposis syndrome
  • p.Leu222= Multiple submitters juvenile polyposis syndrome
  • p.Leu26= Multiple submitters juvenile polyposis syndrome
  • p.Leu30= Multiple submitters juvenile polyposis syndrome
  • p.Leu305= Multiple submitters juvenile polyposis syndrome
  • p.Leu307= Multiple submitters hereditary neoplastic syndrome
  • p.Leu321= Multiple submitters familial colorectal cancer type X
  • p.Leu326= Multiple submitters hereditary neoplastic syndrome
  • p.Leu331= Multiple submitters hereditary neoplastic syndrome
  • p.Leu334= Multiple submitters juvenile polyposis syndrome
  • p.Leu363= Multiple submitters juvenile polyposis syndrome
  • p.Leu369= Multiple submitters hereditary neoplastic syndrome
  • p.Leu381= Multiple submitters juvenile polyposis syndrome
  • p.Leu398= Multiple submitters juvenile polyposis syndrome
  • p.Leu4= Multiple submitters juvenile polyposis syndrome
  • p.Leu417= Multiple submitters juvenile polyposis syndrome
  • p.Leu435= Multiple submitters juvenile polyposis syndrome
  • p.Leu455= Multiple submitters hereditary neoplastic syndrome
  • p.Leu493= Multiple submitters juvenile polyposis syndrome
  • p.Leu497= Multiple submitters juvenile polyposis syndrome
  • p.Leu50= Multiple submitters juvenile polyposis syndrome
  • p.Leu512= Multiple submitters juvenile polyposis syndrome
  • p.Leu59= Multiple submitters juvenile polyposis syndrome
  • p.Lys181= Multiple submitters juvenile polyposis syndrome
  • p.Lys242= Multiple submitters hereditary neoplastic syndrome
  • p.Lys405= Multiple submitters juvenile polyposis syndrome
  • p.Lys42= Multiple submitters juvenile polyposis syndrome
  • p.Lys523= Multiple submitters hereditary neoplastic syndrome
  • p.Phe147= Multiple submitters hereditary neoplastic syndrome
  • p.Phe170= Multiple submitters juvenile polyposis syndrome
  • p.Phe263= Multiple submitters hereditary neoplastic syndrome
  • p.Phe320= Multiple submitters juvenile polyposis syndrome
  • p.Phe387= Multiple submitters hereditary neoplastic syndrome
  • p.Phe422= Multiple submitters juvenile polyposis syndrome
  • p.Phe433= Multiple submitters polyposis syndrome, hereditary mixed, 2
  • p.Pro2Thr Multiple submitters juvenile polyposis syndrome
  • p.Pro397= Multiple submitters juvenile polyposis syndrome
  • p.Pro410= Multiple submitters juvenile polyposis syndrome
  • p.Pro424= Multiple submitters hereditary neoplastic syndrome
  • p.Pro456= Multiple submitters juvenile polyposis syndrome
  • p.Pro462= Multiple submitters juvenile polyposis syndrome
  • p.Pro465= Multiple submitters juvenile polyposis syndrome
  • p.Pro52= Multiple submitters juvenile polyposis syndrome
  • p.Pro68= Multiple submitters juvenile polyposis syndrome
  • p.Ser172= Multiple submitters juvenile polyposis syndrome
  • p.Ser182= Multiple submitters juvenile polyposis syndrome
  • p.Ser216= Multiple submitters juvenile polyposis syndrome
  • p.Ser218= Multiple submitters juvenile polyposis syndrome
  • p.Ser337= Multiple submitters juvenile polyposis syndrome
  • p.Ser39= Multiple submitters hereditary neoplastic syndrome
  • p.Ser432= Multiple submitters hereditary neoplastic syndrome
  • p.Ser44= Multiple submitters juvenile polyposis syndrome
  • p.Ser466= Multiple submitters juvenile polyposis syndrome
  • p.Thr121= Multiple submitters hereditary neoplastic syndrome
  • p.Thr127= Multiple submitters hereditary neoplastic syndrome
  • p.Thr266= Multiple submitters juvenile polyposis syndrome
  • p.Thr275= Multiple submitters juvenile polyposis syndrome
  • p.Thr280= Multiple submitters juvenile polyposis syndrome
  • p.Thr299= Multiple submitters juvenile polyposis syndrome
  • p.Thr303= Multiple submitters hereditary neoplastic syndrome
  • p.Thr309= Multiple submitters juvenile polyposis syndrome
  • p.Thr391= Multiple submitters juvenile polyposis syndrome
  • p.Thr404= Multiple submitters juvenile polyposis syndrome
  • p.Thr513= Multiple submitters hereditary neoplastic syndrome
  • p.Thr520= Multiple submitters juvenile polyposis syndrome
  • p.Thr55= Multiple submitters juvenile polyposis syndrome
  • p.Thr75= Multiple submitters juvenile polyposis syndrome
  • p.Thr95= Multiple submitters juvenile polyposis syndrome
  • p.Tyr103= Multiple submitters juvenile polyposis syndrome
  • p.Tyr133= Multiple submitters juvenile polyposis syndrome
  • p.Tyr179= Multiple submitters juvenile polyposis syndrome
  • p.Tyr189= Multiple submitters juvenile polyposis syndrome
  • p.Tyr245= Multiple submitters juvenile polyposis syndrome
  • p.Tyr278= Multiple submitters juvenile polyposis syndrome
  • p.Tyr311= Multiple submitters juvenile polyposis syndrome
  • p.Tyr431= Multiple submitters juvenile polyposis syndrome
  • p.Tyr453= Multiple submitters juvenile polyposis syndrome
  • p.Tyr457= Multiple submitters hereditary neoplastic syndrome
  • p.Tyr458= Multiple submitters juvenile polyposis syndrome
  • p.Tyr467= Multiple submitters juvenile polyposis syndrome
  • p.Tyr5= Multiple submitters hereditary neoplastic syndrome
  • p.Tyr62= Multiple submitters juvenile polyposis syndrome
  • p.Tyr7= Multiple submitters juvenile polyposis syndrome
  • p.Val162= Multiple submitters juvenile polyposis syndrome
  • p.Val21= Multiple submitters juvenile polyposis syndrome
  • p.Val248= Multiple submitters juvenile polyposis syndrome
  • p.Val258= Multiple submitters hereditary neoplastic syndrome
  • p.Val262= Multiple submitters juvenile polyposis syndrome
  • p.Val385= Multiple submitters juvenile polyposis syndrome
  • p.Val396= Multiple submitters juvenile polyposis syndrome
  • p.Val402= Multiple submitters juvenile polyposis syndrome
  • p.Val474= Multiple submitters juvenile polyposis syndrome
  • p.Val476= Multiple submitters juvenile polyposis syndrome
  • p.Val483= Multiple submitters juvenile polyposis syndrome

Likely benign 534

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

Uncertain significance 1181

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