RNF43 — 1447 ClinVar variants
All ClinVar germline RNF43 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 809 flagged for review →
21 Pathogenic · 2 Pathogenic/Likely pathogenic · 10 Likely pathogenic · 102 Conflicting · 48 Benign · 71 Benign/Likely benign · 365 Likely benign · 828 Uncertain significance
Full RNF43 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 809
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors agree, ClinVar conflicts 63
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
RNF43 p.Ala115Ser
Conflicting
Single submitter
sessile serrated polyposis cancer syndrome
- RNF43 p.Ala42Glu Conflicting Single submitter
-
RNF43 p.Ala672Val
Conflicting
Single submitter
sessile serrated polyposis cancer syndrome
- RNF43 p.Ala752Thr Conflicting Single submitter
-
RNF43 p.Arg127Gln
Conflicting
Single submitter
hyperplastic polyposis syndrome
-
RNF43 p.Arg145Gln
Conflicting
Single submitter
sessile serrated polyposis cancer syndrome
-
RNF43 p.Arg225Cys
Conflicting
Single submitter
sessile serrated polyposis cancer syndrome
-
RNF43 p.Arg225His
Conflicting
Single submitter
hyperplastic polyposis syndrome
- RNF43 p.Arg256Gln Conflicting Single submitter
-
RNF43 p.Arg330Gln
Conflicting
Single submitter
sessile serrated polyposis cancer syndrome
-
RNF43 p.Arg337Gln
Conflicting
Single submitter
hyperplastic polyposis syndrome
-
RNF43 p.Arg363Gln
Conflicting
Single submitter
sessile serrated polyposis cancer syndrome
-
RNF43 p.Arg363Gly
Conflicting
Single submitter
sessile serrated polyposis cancer syndrome
-
RNF43 p.Arg363Trp
Conflicting
Single submitter
sessile serrated polyposis cancer syndrome
- RNF43 p.Arg371Gln Conflicting Single submitter
-
RNF43 p.Arg386Gln
Conflicting
Single submitter
sessile serrated polyposis cancer syndrome
- RNF43 p.Arg389His Conflicting Single submitter
-
RNF43 p.Arg404His
Conflicting
Single submitter
hyperplastic polyposis syndrome
-
RNF43 p.Arg436Cys
Conflicting
Single submitter
sessile serrated polyposis cancer syndrome
-
RNF43 p.Arg437Gln
Conflicting
Single submitter
sessile serrated polyposis cancer syndrome
- RNF43 p.Arg437Trp Conflicting Single submitter
-
RNF43 p.Arg454His
Conflicting
Single submitter
sessile serrated polyposis cancer syndrome
- RNF43 p.Arg519Gln Conflicting Single submitter
-
RNF43 p.Arg531His
Conflicting
Single submitter
sessile serrated polyposis cancer syndrome
-
RNF43 p.Arg554Trp
Conflicting
Single submitter
hyperplastic polyposis syndrome
-
RNF43 p.Arg561Gln
Conflicting
Single submitter
hyperplastic polyposis syndrome
-
RNF43 p.Arg609Gln
Conflicting
Single submitter
sessile serrated polyposis cancer syndrome
-
RNF43 p.Arg609Trp
Conflicting
Single submitter
hyperplastic polyposis syndrome
-
RNF43 p.Arg650Gln
Conflicting
Single submitter
sessile serrated polyposis cancer syndrome
-
RNF43 p.Arg657Trp
Conflicting
Single submitter
hyperplastic polyposis syndrome
- RNF43 p.Arg668Gln Conflicting Single submitter
- RNF43 p.Arg668Trp Conflicting Single submitter
-
RNF43 p.Arg732His
Conflicting
Single submitter
sessile serrated polyposis cancer syndrome
-
RNF43 p.Asp750Asn
Conflicting
Single submitter
sessile serrated polyposis cancer syndrome
-
RNF43 p.Gln324Lys
Conflicting
Single submitter
sessile serrated polyposis cancer syndrome
- RNF43 p.Glu170Lys Conflicting Single submitter
- RNF43 p.Glu401Lys Conflicting Single submitter
-
RNF43 p.Gly263Arg
Conflicting
Single submitter
sessile serrated polyposis cancer syndrome
-
RNF43 p.Gly659Ala
Conflicting
Single submitter
sessile serrated polyposis cancer syndrome
- RNF43 p.Ile582Val Conflicting Single submitter
-
RNF43 p.Leu765Pro
Conflicting
Single submitter
sessile serrated polyposis cancer syndrome
- RNF43 p.Lys514Glu Conflicting Single submitter
- RNF43 p.Met522Leu Conflicting Single submitter
- RNF43 p.Pro101Ala Conflicting Single submitter
-
RNF43 p.Pro192Leu
Conflicting
Single submitter
hyperplastic polyposis syndrome
-
RNF43 p.Pro224Arg
Conflicting
Single submitter
sessile serrated polyposis cancer syndrome
-
RNF43 p.Pro229Leu
Conflicting
Single submitter
sessile serrated polyposis cancer syndrome
-
RNF43 p.Pro372Ser
Conflicting
Single submitter
hyperplastic polyposis syndrome
-
RNF43 p.Pro391Ser
Conflicting
Single submitter
sessile serrated polyposis cancer syndrome
- RNF43 p.Pro587Leu Conflicting Single submitter
- RNF43 p.Ser216Leu Conflicting Single submitter
-
RNF43 p.Ser41Thr
Conflicting
Single submitter
sessile serrated polyposis cancer syndrome
-
RNF43 p.Ser607Leu
Conflicting
Single submitter
sessile serrated polyposis cancer syndrome
- RNF43 p.Ser661Phe Conflicting Single submitter
- RNF43 p.Ser745Phe Conflicting Single submitter
-
RNF43 p.Thr20Ala
Conflicting
Single submitter
sessile serrated polyposis cancer syndrome
-
RNF43 p.Thr58Ser
Conflicting
Single submitter
sessile serrated polyposis cancer syndrome
-
RNF43 p.Thr685Asn
Conflicting
Single submitter
sessile serrated polyposis cancer syndrome
-
RNF43 p.Val107Ile
Conflicting
Single submitter
sessile serrated polyposis cancer syndrome
-
RNF43 p.Val271Leu
Conflicting
Single submitter
hyperplastic polyposis syndrome
- RNF43 p.Val490Ile Conflicting Single submitter
-
RNF43 p.Val548Ile
Conflicting
Single submitter
sessile serrated polyposis cancer syndrome
-
RNF43 p.Val627Ala
Conflicting
Single submitter
Inherited polyposis and early onset colorectal cancer - germline testing
Predictors lean, ClinVar uncertain 635
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 635
- RNF43 p.Ala115Asp Uncertain significance Multiple submitters
-
RNF43 p.Ala115Val
Uncertain significance
Multiple submitters
sessile serrated polyposis cancer syndrome
- RNF43 p.Ala126Gly Uncertain significance Multiple submitters
-
RNF43 p.Ala148Gly
Uncertain significance
Multiple submitters
sessile serrated polyposis cancer syndrome
-
RNF43 p.Ala169Ser
Uncertain significance
Multiple submitters
sessile serrated polyposis cancer syndrome
-
RNF43 p.Ala193Val
Uncertain significance
Multiple submitters
sessile serrated polyposis cancer syndrome
-
RNF43 p.Ala244Thr
Uncertain significance
Multiple submitters
sessile serrated polyposis cancer syndrome
-
RNF43 p.Ala250Asp
Uncertain significance
Multiple submitters
sessile serrated polyposis cancer syndrome
- RNF43 p.Ala33Thr Uncertain significance Multiple submitters
-
RNF43 p.Ala35Thr
Uncertain significance
Multiple submitters
sessile serrated polyposis cancer syndrome
-
RNF43 p.Ala35Val
Uncertain significance
Multiple submitters
sessile serrated polyposis cancer syndrome
- RNF43 p.Ala406Pro Uncertain significance Multiple submitters
- RNF43 p.Ala406Val Uncertain significance Multiple submitters
- RNF43 p.Ala413Val Uncertain significance Multiple submitters
- RNF43 p.Ala604Val Uncertain significance Multiple submitters
- RNF43 p.Ala618Thr Uncertain significance Multiple submitters
- RNF43 p.Ala629Pro Uncertain significance Multiple submitters
-
RNF43 p.Ala696Thr
Uncertain significance
Multiple submitters
sessile serrated polyposis cancer syndrome
- RNF43 p.Arg114Gln Uncertain significance Multiple submitters
-
RNF43 p.Arg114Leu
Uncertain significance
Multiple submitters
sessile serrated polyposis cancer syndrome
-
RNF43 p.Arg219Cys
Uncertain significance
Multiple submitters
sessile serrated polyposis cancer syndrome
-
RNF43 p.Arg219His
Uncertain significance
Multiple submitters
sessile serrated polyposis cancer syndrome
- RNF43 p.Arg221Trp Uncertain significance Multiple submitters
-
RNF43 p.Arg223Cys
Uncertain significance
Multiple submitters
Inherited polyposis and early onset colorectal cancer - germline testing
-
RNF43 p.Arg223His
Uncertain significance
Multiple submitters
sessile serrated polyposis cancer syndrome
- RNF43 p.Arg225Ser Uncertain significance Multiple submitters
-
RNF43 p.Arg228Lys
Uncertain significance
Multiple submitters
sessile serrated polyposis cancer syndrome
- RNF43 p.Arg228Ser Uncertain significance Multiple submitters
-
RNF43 p.Arg256Trp
Uncertain significance
Multiple submitters
sessile serrated polyposis cancer syndrome
-
RNF43 p.Arg27Cys
Uncertain significance
Multiple submitters
sessile serrated polyposis cancer syndrome
-
RNF43 p.Arg27His
Uncertain significance
Multiple submitters
sessile serrated polyposis cancer syndrome
-
RNF43 p.Arg286Gln
Uncertain significance
Multiple submitters
sessile serrated polyposis cancer syndrome
- RNF43 p.Arg286Trp Uncertain significance Multiple submitters
-
RNF43 p.Arg296Cys
Uncertain significance
Multiple submitters
sessile serrated polyposis cancer syndrome
- RNF43 p.Arg296Pro Uncertain significance Multiple submitters
-
RNF43 p.Arg307Gln
Uncertain significance
Multiple submitters
sessile serrated polyposis cancer syndrome
- RNF43 p.Arg337Gly Uncertain significance Multiple submitters
-
RNF43 p.Arg343Cys
Uncertain significance
Multiple submitters
sessile serrated polyposis cancer syndrome
-
RNF43 p.Arg368Gln
Uncertain significance
Multiple submitters
sessile serrated polyposis cancer syndrome
-
RNF43 p.Arg368Trp
Uncertain significance
Multiple submitters
sessile serrated polyposis cancer syndrome
-
RNF43 p.Arg386Trp
Uncertain significance
Multiple submitters
sessile serrated polyposis cancer syndrome
-
RNF43 p.Arg389Cys
Uncertain significance
Multiple submitters
sessile serrated polyposis cancer syndrome
- RNF43 p.Arg392Ile Uncertain significance Multiple submitters
-
RNF43 p.Arg392Thr
Uncertain significance
Multiple submitters
sessile serrated polyposis cancer syndrome
-
RNF43 p.Arg397Gln
Uncertain significance
Multiple submitters
RNF43-related disorder
-
RNF43 p.Arg397Trp
Uncertain significance
Multiple submitters
sessile serrated polyposis cancer syndrome
-
RNF43 p.Arg404Cys
Uncertain significance
Multiple submitters
sessile serrated polyposis cancer syndrome
- RNF43 p.Arg436His Uncertain significance Multiple submitters
- RNF43 p.Arg436Ser Uncertain significance Multiple submitters
-
RNF43 p.Arg454Cys
Uncertain significance
Multiple submitters
sessile serrated polyposis cancer syndrome
- RNF43 p.Arg49Lys Uncertain significance Multiple submitters
-
RNF43 p.Arg529Gln
Uncertain significance
Multiple submitters
hyperplastic polyposis syndrome
-
RNF43 p.Arg531Cys
Uncertain significance
Multiple submitters
sessile serrated polyposis cancer syndrome
-
RNF43 p.Arg552Cys
Uncertain significance
Multiple submitters
sessile serrated polyposis cancer syndrome
-
RNF43 p.Arg554Gln
Uncertain significance
Multiple submitters
sessile serrated polyposis cancer syndrome
-
RNF43 p.Arg561Trp
Uncertain significance
Multiple submitters
sessile serrated polyposis cancer syndrome
-
RNF43 p.Arg579Gly
Uncertain significance
Multiple submitters
sessile serrated polyposis cancer syndrome
-
RNF43 p.Arg584Gln
Uncertain significance
Multiple submitters
sessile serrated polyposis cancer syndrome
-
RNF43 p.Arg584Trp
Uncertain significance
Multiple submitters
sessile serrated polyposis cancer syndrome
-
RNF43 p.Arg654Lys
Uncertain significance
Multiple submitters
hyperplastic polyposis syndrome
-
RNF43 p.Arg657Gln
Uncertain significance
Multiple submitters
sessile serrated polyposis cancer syndrome
-
RNF43 p.Arg709Met
Uncertain significance
Multiple submitters
sessile serrated polyposis cancer syndrome
-
RNF43 p.Arg732Cys
Uncertain significance
Multiple submitters
sessile serrated polyposis cancer syndrome
- RNF43 p.Arg732Gly Uncertain significance Multiple submitters
- RNF43 p.Arg755Lys Uncertain significance Multiple submitters
- RNF43 p.Asn167Asp Uncertain significance Multiple submitters
- RNF43 p.Asn167Ser Uncertain significance Multiple submitters
- RNF43 p.Asn481Asp Uncertain significance Multiple submitters
-
RNF43 p.Asn62Ser
Uncertain significance
Multiple submitters
sessile serrated polyposis cancer syndrome
- RNF43 p.Asn92Lys Uncertain significance Multiple submitters
-
RNF43 p.Asp261Glu
Uncertain significance
Multiple submitters
hyperplastic polyposis syndrome
- RNF43 p.Asp320Gly Uncertain significance Multiple submitters
- RNF43 p.Asp534His Uncertain significance Multiple submitters
- RNF43 p.Asp56Glu Uncertain significance Multiple submitters
- RNF43 p.Asp707Glu Uncertain significance Multiple submitters
-
RNF43 p.Asp750His
Uncertain significance
Multiple submitters
sessile serrated polyposis cancer syndrome
- RNF43 p.Cys431Tyr Uncertain significance Multiple submitters
- RNF43 p.Cys615Trp Uncertain significance Multiple submitters
- RNF43 p.Cys701Ser Uncertain significance Multiple submitters
-
RNF43 p.Cys762Arg
Uncertain significance
Multiple submitters
sessile serrated polyposis cancer syndrome
- RNF43 p.Cys762Trp Uncertain significance Multiple submitters
- RNF43 p.Cys91Arg Uncertain significance Multiple submitters
-
RNF43 p.Gln152Arg
Uncertain significance
Multiple submitters
sessile serrated polyposis cancer syndrome
-
RNF43 p.Gln180Glu
Uncertain significance
Multiple submitters
sessile serrated polyposis cancer syndrome
-
RNF43 p.Gln22His
Uncertain significance
Multiple submitters
sessile serrated polyposis cancer syndrome
-
RNF43 p.Gln305Arg
Uncertain significance
Multiple submitters
sessile serrated polyposis cancer syndrome
- RNF43 p.Gln422Lys Uncertain significance Multiple submitters
-
RNF43 p.Gln488Leu
Uncertain significance
Multiple submitters
sessile serrated polyposis cancer syndrome
-
RNF43 p.Gln518Arg
Uncertain significance
Multiple submitters
sessile serrated polyposis cancer syndrome
- RNF43 p.Gln670Arg Uncertain significance Multiple submitters
- RNF43 p.Glu258Lys Uncertain significance Multiple submitters
- RNF43 p.Glu572Asp Uncertain significance Multiple submitters
- RNF43 p.Glu590Asp Uncertain significance Multiple submitters
- RNF43 p.Glu621Lys Uncertain significance Multiple submitters
- RNF43 p.Glu621Val Uncertain significance Multiple submitters
-
RNF43 p.Glu662Lys
Uncertain significance
Multiple submitters
sessile serrated polyposis cancer syndrome
- RNF43 p.Glu713Asp Uncertain significance Multiple submitters
- RNF43 p.Glu713Gly Uncertain significance Multiple submitters
- RNF43 p.Glu742Lys Uncertain significance Multiple submitters
-
RNF43 p.Glu776Lys
Uncertain significance
Multiple submitters
sessile serrated polyposis cancer syndrome
-
RNF43 p.Glu780Gln
Uncertain significance
Multiple submitters
sessile serrated polyposis cancer syndrome
-
RNF43 p.Gly156Ala
Uncertain significance
Multiple submitters
sessile serrated polyposis cancer syndrome
-
RNF43 p.Gly166Asp
Uncertain significance
Multiple submitters
sessile serrated polyposis cancer syndrome
- RNF43 p.Gly207Ser Uncertain significance Multiple submitters
- RNF43 p.Gly29Ala Uncertain significance Multiple submitters
- RNF43 p.Gly336Val Uncertain significance Multiple submitters
-
RNF43 p.Gly347Ser
Uncertain significance
Multiple submitters
sessile serrated polyposis cancer syndrome
-
RNF43 p.Gly400Val
Uncertain significance
Multiple submitters
sessile serrated polyposis cancer syndrome
- RNF43 p.Gly415Asp Uncertain significance Multiple submitters
-
RNF43 p.Gly417Arg
Uncertain significance
Multiple submitters
sessile serrated polyposis cancer syndrome
- RNF43 p.Gly445Glu Uncertain significance Multiple submitters
- RNF43 p.Gly473Ala Uncertain significance Multiple submitters
-
RNF43 p.Gly492Ser
Uncertain significance
Multiple submitters
sessile serrated polyposis cancer syndrome
-
RNF43 p.Gly515Glu
Uncertain significance
Multiple submitters
sessile serrated polyposis cancer syndrome
-
RNF43 p.Gly540Glu
Uncertain significance
Multiple submitters
sessile serrated polyposis cancer syndrome
-
RNF43 p.Gly566Asp
Uncertain significance
Multiple submitters
sessile serrated polyposis cancer syndrome
-
RNF43 p.Gly570Ser
Uncertain significance
Multiple submitters
sessile serrated polyposis cancer syndrome
-
RNF43 p.Gly574Arg
Uncertain significance
Multiple submitters
sessile serrated polyposis cancer syndrome
-
RNF43 p.Gly608Arg
Uncertain significance
Multiple submitters
sessile serrated polyposis cancer syndrome
-
RNF43 p.Gly659Asp
Uncertain significance
Multiple submitters
sessile serrated polyposis cancer syndrome
-
RNF43 p.Gly67Asp
Uncertain significance
Multiple submitters
sessile serrated polyposis cancer syndrome
-
RNF43 p.Gly716Ser
Uncertain significance
Multiple submitters
sessile serrated polyposis cancer syndrome
-
RNF43 p.Gly716Val
Uncertain significance
Multiple submitters
sessile serrated polyposis cancer syndrome
- RNF43 p.Gly743Arg Uncertain significance Multiple submitters
-
RNF43 p.His183Arg
Uncertain significance
Multiple submitters
sessile serrated polyposis cancer syndrome
- RNF43 p.His304Tyr Uncertain significance Multiple submitters
- RNF43 p.His472Leu Uncertain significance Multiple submitters
-
RNF43 p.His547Arg
Uncertain significance
Multiple submitters
sessile serrated polyposis cancer syndrome
-
RNF43 p.His557Arg
Uncertain significance
Multiple submitters
sessile serrated polyposis cancer syndrome
- RNF43 p.His557Gln Uncertain significance Multiple submitters
-
RNF43 p.His651Asn
Uncertain significance
Multiple submitters
sessile serrated polyposis cancer syndrome
-
RNF43 p.His651Gln
Uncertain significance
Multiple submitters
sessile serrated polyposis cancer syndrome
-
RNF43 p.His697Arg
Uncertain significance
Multiple submitters
sessile serrated polyposis cancer syndrome
- RNF43 p.His738Arg Uncertain significance Multiple submitters
- RNF43 p.His761Arg Uncertain significance Multiple submitters
- RNF43 p.Ile106Ser Uncertain significance Multiple submitters
- RNF43 p.Ile209Met Uncertain significance Multiple submitters
-
RNF43 p.Ile212Met
Uncertain significance
Multiple submitters
sessile serrated polyposis cancer syndrome
- RNF43 p.Ile48Asn Uncertain significance Multiple submitters
- RNF43 p.Ile632Thr Uncertain significance Multiple submitters
- RNF43 p.Ile632Val Uncertain significance Multiple submitters
- RNF43 p.Ile700Met Uncertain significance Multiple submitters
-
RNF43 p.Leu214Val
Uncertain significance
Multiple submitters
sessile serrated polyposis cancer syndrome
- RNF43 p.Leu326Pro Uncertain significance Multiple submitters
- RNF43 p.Leu353Val Uncertain significance Multiple submitters
- RNF43 p.Leu358Met Uncertain significance Multiple submitters
-
RNF43 p.Leu508Ile
Uncertain significance
Multiple submitters
sessile serrated polyposis cancer syndrome
- RNF43 p.Leu710Gln Uncertain significance Multiple submitters
- RNF43 p.Leu9Val Uncertain significance Multiple submitters
- RNF43 p.Lys178Arg Uncertain significance Multiple submitters
Predictors split 111
The independent predictors disagree with each other — read with care.
- RNF43 p.Ala123Thr Uncertain significance Multiple submitters
-
RNF43 p.Ala126Val
Uncertain significance
Multiple submitters
sessile serrated polyposis cancer syndrome
- RNF43 p.Ala169Thr Uncertain significance Multiple submitters
-
RNF43 p.Arg114Trp
Uncertain significance
Multiple submitters
sessile serrated polyposis cancer syndrome
- RNF43 p.Arg117Cys Uncertain significance Multiple submitters
- RNF43 p.Arg127Trp Uncertain significance Multiple submitters
- RNF43 p.Arg132Gln Uncertain significance Multiple submitters
- RNF43 p.Arg246Thr Uncertain significance Multiple submitters
-
RNF43 p.Arg296His
Uncertain significance
Multiple submitters
sessile serrated polyposis cancer syndrome
- RNF43 p.Asp168Gly Uncertain significance Multiple submitters
- RNF43 p.Asp506Glu Uncertain significance Multiple submitters
- RNF43 p.Glu131Asp Uncertain significance Multiple submitters
- RNF43 p.Glu187Lys Uncertain significance Multiple submitters
-
RNF43 p.Glu66Gly
Uncertain significance
Multiple submitters
sessile serrated polyposis cancer syndrome
-
RNF43 p.Gly156Arg
Uncertain significance
Multiple submitters
sessile serrated polyposis cancer syndrome
- RNF43 p.Gly461Arg Uncertain significance Multiple submitters
-
RNF43 p.Gly489Arg
Uncertain significance
Multiple submitters
sessile serrated polyposis cancer syndrome
-
RNF43 p.Ile209Thr
Uncertain significance
Multiple submitters
sessile serrated polyposis cancer syndrome
- RNF43 p.Leu109Met Uncertain significance Multiple submitters
- RNF43 p.Leu202Pro Uncertain significance Multiple submitters
-
RNF43 p.Met173Arg
Uncertain significance
Multiple submitters
sessile serrated polyposis cancer syndrome
-
RNF43 p.Met83Val
Uncertain significance
Multiple submitters
sessile serrated polyposis cancer syndrome
-
RNF43 p.Phe497Leu
Uncertain significance
Multiple submitters
sessile serrated polyposis cancer syndrome
- RNF43 p.Pro116Leu Uncertain significance Multiple submitters
- RNF43 p.Pro116Ser Uncertain significance Multiple submitters
- RNF43 p.Pro154Leu Uncertain significance Multiple submitters
-
RNF43 p.Pro87Leu
Uncertain significance
Multiple submitters
hyperplastic polyposis syndrome
-
RNF43 p.Ser493Asn
Uncertain significance
Multiple submitters
sessile serrated polyposis cancer syndrome
- RNF43 p.Thr20Pro Uncertain significance Multiple submitters
- RNF43 p.Ala126Ser Uncertain significance Single submitter
- RNF43 p.Ala169Val Uncertain significance Single submitter
- RNF43 p.Ala182Ser Uncertain significance Single submitter
- RNF43 p.Ala182Val Uncertain significance Single submitter
-
RNF43 p.Ala244Asp
Uncertain significance
Single submitter
sessile serrated polyposis cancer syndrome
- RNF43 p.Ala459Glu Uncertain significance Single submitter
- RNF43 p.Ala93Asp Uncertain significance Single submitter
- RNF43 p.Arg113Pro Uncertain significance Single submitter
- RNF43 p.Arg114Pro Uncertain significance Single submitter
- RNF43 p.Arg117Pro Uncertain significance Single submitter
- RNF43 p.Arg307Trp Uncertain significance Single submitter
- RNF43 p.Arg49Gly Uncertain significance Single submitter
- RNF43 p.Asn481Ile Uncertain significance Single submitter
- RNF43 p.Asn481Thr Uncertain significance Single submitter
- RNF43 p.Asp144Asn Uncertain significance Single submitter
- RNF43 p.Asp198Ala Uncertain significance Single submitter
- RNF43 p.Asp198Tyr Uncertain significance Single submitter
- RNF43 p.Asp300Glu Uncertain significance Single submitter
- RNF43 p.Asp460Asn Uncertain significance Single submitter
- RNF43 p.Asp460Gly Uncertain significance Single submitter
- RNF43 p.Asp477Val Uncertain significance Single submitter
- RNF43 p.Asp484His Uncertain significance Single submitter
- RNF43 p.Asp506Val Uncertain significance Single submitter
- RNF43 p.Asp95Asn Uncertain significance Single submitter
-
RNF43 p.Asp97Asn
Conflicting
Single submitter
sessile serrated polyposis cancer syndrome
- RNF43 p.Cys482Arg Uncertain significance Single submitter
- RNF43 p.Glu110Gly Uncertain significance Single submitter
- RNF43 p.Glu143Lys Uncertain significance Single submitter
- RNF43 p.Glu79Lys Uncertain significance Single submitter
- RNF43 p.Gly130Ser Uncertain significance Single submitter
- RNF43 p.Gly456Glu Uncertain significance Single submitter
-
RNF43 p.Gly469Arg
Uncertain significance
Single submitter
sessile serrated polyposis cancer syndrome
- RNF43 p.Gly469Trp Uncertain significance Single submitter
- RNF43 p.Gly492Val Uncertain significance Single submitter
- RNF43 p.His183Asp Uncertain significance Single submitter
- RNF43 p.His345Asp Uncertain significance Single submitter
- RNF43 p.His549Asp Uncertain significance Single submitter
- RNF43 p.His549Gln Uncertain significance Single submitter
- RNF43 p.His556Asp Uncertain significance Single submitter
- RNF43 p.Ile106Leu Uncertain significance Single submitter
- RNF43 p.Ile164Met Uncertain significance Single submitter
- RNF43 p.Ile186Val Uncertain significance Single submitter
- RNF43 p.Ile48Val Uncertain significance Single submitter
- RNF43 p.Leu109Val Uncertain significance Single submitter
- RNF43 p.Leu138Phe Uncertain significance Single submitter
- RNF43 p.Leu151Met Uncertain significance Single submitter
- RNF43 p.Leu172Met Uncertain significance Single submitter
- RNF43 p.Leu53Trp Uncertain significance Single submitter
-
RNF43 p.Lys108Arg
Uncertain significance
Single submitter
sessile serrated polyposis cancer syndrome
- RNF43 p.Lys178Asn Uncertain significance Single submitter
- RNF43 p.Lys189Asn Uncertain significance Single submitter
- RNF43 p.Met173Leu Uncertain significance Single submitter
- RNF43 p.Met18Arg Uncertain significance Single submitter
- RNF43 p.Met313Thr Uncertain significance Single submitter
- RNF43 p.Met83Ile Uncertain significance Single submitter
- RNF43 p.Pro14Thr Uncertain significance Single submitter
- RNF43 p.Pro224Leu Uncertain significance Single submitter
- RNF43 p.Pro270Arg Uncertain significance Single submitter
- RNF43 p.Pro270Leu Uncertain significance Single submitter
- RNF43 p.Pro77Leu Uncertain significance Single submitter
- RNF43 p.Pro87Ala Uncertain significance Single submitter
- RNF43 p.Ser105Asn Uncertain significance Single submitter
- RNF43 p.Ser444Arg Uncertain significance Single submitter
- RNF43 p.Ser449Arg Uncertain significance Single submitter
- RNF43 p.Ser455Arg Uncertain significance Single submitter
- RNF43 p.Ser464Arg Uncertain significance Single submitter
- RNF43 p.Ser474Phe Uncertain significance Single submitter
- RNF43 p.Ser475Phe Uncertain significance Single submitter
- RNF43 p.Ser486Asn Uncertain significance Single submitter
- RNF43 p.Ser494Arg Uncertain significance Single submitter
- RNF43 p.Ser495Tyr Uncertain significance Single submitter
- RNF43 p.Ser502Asn Uncertain significance Single submitter
-
RNF43 p.Ser502Ile
Uncertain significance
Single submitter
sessile serrated polyposis cancer syndrome
- RNF43 p.Ser94Asn Uncertain significance Single submitter
- RNF43 p.Ser94Gly Uncertain significance Single submitter
- RNF43 p.Ser94Ile Uncertain significance Single submitter
- RNF43 p.Thr142Ile Uncertain significance Single submitter
- RNF43 p.Trp159Cys Uncertain significance Single submitter
- RNF43 p.Trp194Arg Uncertain significance Single submitter
- RNF43 p.Tyr550Asp Uncertain significance Single submitter
- RNF43 p.Val176Leu Uncertain significance Single submitter
- RNF43 p.Val72Ala Uncertain significance Single submitter
All RNF43 variants
Pathogenic 21
- p.Arg117fs Single submitter sessile serrated polyposis cancer syndrome
- p.Arg404fs Single submitter sessile serrated polyposis cancer syndrome
- p.Arg437fs Single submitter sessile serrated polyposis cancer syndrome
- p.Gln22Ter Single submitter sessile serrated polyposis cancer syndrome
- p.Gln233Ter Single submitter sessile serrated polyposis cancer syndrome
- p.Gln242Ter Single submitter sessile serrated polyposis cancer syndrome
- p.Gln305Ter Single submitter sessile serrated polyposis cancer syndrome
- p.Gln333Ter Single submitter sessile serrated polyposis cancer syndrome
- p.Glu43Ter Single submitter sessile serrated polyposis cancer syndrome
- p.Gly540fs Single submitter sessile serrated polyposis cancer syndrome
- p.Gly666fs Single submitter sessile serrated polyposis cancer syndrome
- p.His86fs Single submitter sessile serrated polyposis cancer syndrome
- p.Leu339fs Single submitter sessile serrated polyposis cancer syndrome
- p.Leu99fs Single submitter
- p.Pro462fs Single submitter sessile serrated polyposis cancer syndrome
- p.Ser378fs Single submitter sessile serrated polyposis cancer syndrome
- p.Ser419fs Single submitter sessile serrated polyposis cancer syndrome
- p.Ser468Ter Single submitter sessile serrated polyposis cancer syndrome
- p.Ser478fs Single submitter sessile serrated polyposis cancer syndrome
- p.Trp564Ter Single submitter sessile serrated polyposis cancer syndrome
- p.Tyr550Ter Single submitter sessile serrated polyposis cancer syndrome
Pathogenic/Likely pathogenic 2
- p.Arg337Ter Multiple submitters sessile serrated polyposis cancer syndrome
- p.Gly659fs Multiple submitters sessile serrated polyposis cancer syndrome
Likely pathogenic 10
- c.2308+1G>A Single submitter sessile serrated polyposis cancer syndrome
- c.252+1G>T Single submitter sessile serrated polyposis cancer syndrome
- c.253-2A>C Single submitter sessile serrated polyposis cancer syndrome
- c.582+1G>A Single submitter sessile serrated polyposis cancer syndrome
- c.582+1G>C Single submitter sessile serrated polyposis cancer syndrome
- p.Arg650fs Single submitter sessile serrated polyposis cancer syndrome
- p.Arg657fs Single submitter sessile serrated polyposis cancer syndrome
- p.Leu642fs Single submitter sessile serrated polyposis cancer syndrome
- p.Tyr510Ter Single submitter sessile serrated polyposis cancer syndrome
- c.2308+1G>T No assertion criteria sessile serrated polyposis cancer syndrome
Conflicting classifications of pathogenicity 102
- c.2309-14CT[2] Single submitter sessile serrated polyposis cancer syndrome
- c.253-12CT[2] Single submitter
- c.451-5del Single submitter
- c.582+2_582+27del Single submitter sessile serrated polyposis cancer syndrome
- c.687+3G>A Single submitter sessile serrated polyposis cancer syndrome
- c.688-7T>C Single submitter
- c.*8A>G Single submitter
- p.Ala115Ser Single submitter sessile serrated polyposis cancer syndrome ⚠
- p.Ala42Glu Single submitter ⚠
- p.Ala672Val Single submitter sessile serrated polyposis cancer syndrome ⚠
- p.Ala752Thr Single submitter ⚠
- p.Arg113Ter Single submitter sessile serrated polyposis cancer syndrome
- p.Arg127Gln Single submitter hyperplastic polyposis syndrome ⚠
- p.Arg132Ter Single submitter sessile serrated polyposis cancer syndrome
- p.Arg145Gln Single submitter sessile serrated polyposis cancer syndrome ⚠
- p.Arg145Ter Single submitter sessile serrated polyposis cancer syndrome
- p.Arg225Cys Single submitter sessile serrated polyposis cancer syndrome ⚠
- p.Arg225His Single submitter hyperplastic polyposis syndrome ⚠
- p.Arg256Gln Single submitter ⚠
- p.Arg330Gln Single submitter sessile serrated polyposis cancer syndrome ⚠
- p.Arg330Ter Single submitter sessile serrated polyposis cancer syndrome
- p.Arg337Gln Single submitter hyperplastic polyposis syndrome ⚠
- p.Arg363Gln Single submitter sessile serrated polyposis cancer syndrome ⚠
- p.Arg363Gly Single submitter sessile serrated polyposis cancer syndrome ⚠
- p.Arg363Trp Single submitter sessile serrated polyposis cancer syndrome ⚠
- p.Arg371Gln Single submitter ⚠
- p.Arg371Ter Single submitter sessile serrated polyposis cancer syndrome
- p.Arg386Gln Single submitter sessile serrated polyposis cancer syndrome ⚠
- p.Arg389His Single submitter ⚠
- p.Arg404His Single submitter hyperplastic polyposis syndrome ⚠
- p.Arg436Cys Single submitter sessile serrated polyposis cancer syndrome ⚠
- p.Arg437Gln Single submitter sessile serrated polyposis cancer syndrome ⚠
- p.Arg437Trp Single submitter ⚠
- p.Arg439= Single submitter
- p.Arg454His Single submitter sessile serrated polyposis cancer syndrome ⚠
- p.Arg519Gln Single submitter ⚠
- p.Arg519Ter Single submitter sessile serrated polyposis cancer syndrome
- p.Arg531His Single submitter sessile serrated polyposis cancer syndrome ⚠
- p.Arg554Trp Single submitter hyperplastic polyposis syndrome ⚠
- p.Arg561= Single submitter
- p.Arg561Gln Single submitter hyperplastic polyposis syndrome ⚠
- p.Arg609Gln Single submitter sessile serrated polyposis cancer syndrome ⚠
- p.Arg609Trp Single submitter hyperplastic polyposis syndrome ⚠
- p.Arg650Gln Single submitter sessile serrated polyposis cancer syndrome ⚠
- p.Arg650Ter Single submitter sessile serrated polyposis cancer syndrome
- p.Arg657Trp Single submitter hyperplastic polyposis syndrome ⚠
- p.Arg668Gln Single submitter ⚠
- p.Arg668Trp Single submitter ⚠
- p.Arg732His Single submitter sessile serrated polyposis cancer syndrome ⚠
- p.Asp750Asn Single submitter sessile serrated polyposis cancer syndrome ⚠
- p.Asp97Asn Single submitter sessile serrated polyposis cancer syndrome ⚠
- p.Gln324Lys Single submitter sessile serrated polyposis cancer syndrome ⚠
- p.Gln324Ter Single submitter sessile serrated polyposis cancer syndrome
- p.Gln403Ter Single submitter sessile serrated polyposis cancer syndrome
- p.Gln563fs Single submitter sessile serrated polyposis cancer syndrome
- p.Gln586Ter Single submitter sessile serrated polyposis cancer syndrome
- p.Gln614Ter Single submitter sessile serrated polyposis cancer syndrome
- p.Gln763Ter Single submitter sessile serrated polyposis cancer syndrome
- p.Gln8= Single submitter sessile serrated polyposis cancer syndrome
- p.Glu170Lys Single submitter ⚠
- p.Glu258= Single submitter sessile serrated polyposis cancer syndrome
- p.Glu401Lys Single submitter ⚠
- p.Glu590Ter Single submitter sessile serrated polyposis cancer syndrome
- p.Gly263Arg Single submitter sessile serrated polyposis cancer syndrome ⚠
- p.Gly263fs Single submitter sessile serrated polyposis cancer syndrome
- p.Gly659Ala Single submitter sessile serrated polyposis cancer syndrome ⚠
- p.His697= Single submitter hyperplastic polyposis syndrome
- p.Ile582Val Single submitter ⚠
- p.Leu765Pro Single submitter sessile serrated polyposis cancer syndrome ⚠
- p.Lys514Glu Single submitter ⚠
- p.Met522Leu Single submitter ⚠
- p.Pro101Ala Single submitter ⚠
- p.Pro192Leu Single submitter hyperplastic polyposis syndrome ⚠
- p.Pro224Arg Single submitter sessile serrated polyposis cancer syndrome ⚠
- p.Pro229Leu Single submitter sessile serrated polyposis cancer syndrome ⚠
- p.Pro270fs Single submitter sessile serrated polyposis cancer syndrome
- p.Pro370fs Single submitter sessile serrated polyposis cancer syndrome
- p.Pro372Ser Single submitter hyperplastic polyposis syndrome ⚠
- p.Pro391Ser Single submitter sessile serrated polyposis cancer syndrome ⚠
- p.Pro587Leu Single submitter ⚠
- p.Pro660fs Single submitter sessile serrated polyposis cancer syndrome
- p.Ser216Leu Single submitter ⚠
- p.Ser264= Single submitter hyperplastic polyposis syndrome
- p.Ser41Thr Single submitter sessile serrated polyposis cancer syndrome ⚠
- p.Ser607Leu Single submitter sessile serrated polyposis cancer syndrome ⚠
- p.Ser661Phe Single submitter ⚠
- p.Ser745Phe Single submitter ⚠
- p.Thr158fs Single submitter sessile serrated polyposis cancer syndrome
- p.Thr20Ala Single submitter sessile serrated polyposis cancer syndrome ⚠
- p.Thr28= Single submitter sessile serrated polyposis cancer syndrome
- p.Thr58Ser Single submitter sessile serrated polyposis cancer syndrome ⚠
- p.Thr599fs Single submitter sessile serrated polyposis cancer syndrome
- p.Thr685Asn Single submitter sessile serrated polyposis cancer syndrome ⚠
- p.Trp200Ter Single submitter sessile serrated polyposis cancer syndrome
- p.Trp238Ter Single submitter sessile serrated polyposis cancer syndrome
- p.Val107Ile Single submitter sessile serrated polyposis cancer syndrome ⚠
- p.Val161= Single submitter sessile serrated polyposis cancer syndrome
- p.Val271Leu Single submitter hyperplastic polyposis syndrome ⚠
- p.Val479fs Single submitter sessile serrated polyposis cancer syndrome
- p.Val490Ile Single submitter ⚠
- p.Val548Ile Single submitter sessile serrated polyposis cancer syndrome ⚠
- p.Val627Ala Single submitter Inherited polyposis and early onset colorectal cancer - germline testing ⚠
Benign 48
- c.2309-29C>T Multiple submitters
- c.582+110C>T Multiple submitters
- c.582+162C>T Multiple submitters
- c.582+94C>A Multiple submitters
- c.849+102A>C Multiple submitters
- c.-385-51T>A Multiple submitters
- p.Ala365Thr Multiple submitters hereditary neoplastic syndrome
- p.Arg117His Multiple submitters sessile serrated polyposis cancer syndrome
- p.Arg221Gln Multiple submitters sessile serrated polyposis cancer syndrome
- p.Arg657Pro Multiple submitters hyperplastic polyposis syndrome
- p.Gly336Asp Multiple submitters
- p.Ile47Val Multiple submitters sessile serrated polyposis cancer syndrome
- p.Leu418Met Multiple submitters hereditary neoplastic syndrome
- p.Pro686Arg Multiple submitters hereditary neoplastic syndrome
- c.375+17C>T Single submitter
- c.375+220T>C Single submitter
- p.Ala10= Single submitter sessile serrated polyposis cancer syndrome
- p.Ala136= Single submitter sessile serrated polyposis cancer syndrome
- p.Ala148= Single submitter sessile serrated polyposis cancer syndrome
- p.Arg219= Single submitter sessile serrated polyposis cancer syndrome
- p.Arg228= Single submitter sessile serrated polyposis cancer syndrome
- p.Arg27= Single submitter sessile serrated polyposis cancer syndrome
- p.Asn167= Single submitter sessile serrated polyposis cancer syndrome
- p.Asp196= Single submitter sessile serrated polyposis cancer syndrome
- p.Asp95= Single submitter sessile serrated polyposis cancer syndrome
- p.Cys266= Single submitter sessile serrated polyposis cancer syndrome
- p.Glu100= Single submitter sessile serrated polyposis cancer syndrome
- p.Glu149= Single submitter sessile serrated polyposis cancer syndrome
- p.Glu37= Single submitter sessile serrated polyposis cancer syndrome
- p.Glu39= Single submitter sessile serrated polyposis cancer syndrome
- p.Gly3= Single submitter sessile serrated polyposis cancer syndrome
- p.Ile201= Single submitter sessile serrated polyposis cancer syndrome
- p.Ile51= Single submitter sessile serrated polyposis cancer syndrome
- p.Leu109= Single submitter sessile serrated polyposis cancer syndrome
- p.Leu138= Single submitter sessile serrated polyposis cancer syndrome
- p.Leu163= Single submitter sessile serrated polyposis cancer syndrome
- p.Leu243= Single submitter sessile serrated polyposis cancer syndrome
- p.Leu90= Single submitter sessile serrated polyposis cancer syndrome
- p.Leu99= Single submitter sessile serrated polyposis cancer syndrome
- p.Lys189= Single submitter sessile serrated polyposis cancer syndrome
- p.Phe139= Single submitter sessile serrated polyposis cancer syndrome
- p.Pro270= Single submitter sessile serrated polyposis cancer syndrome
- p.Ser265= Single submitter sessile serrated polyposis cancer syndrome
- p.Thr142= Single submitter sessile serrated polyposis cancer syndrome
- p.Thr204= Single submitter sessile serrated polyposis cancer syndrome
- p.Tyr248= Single submitter sessile serrated polyposis cancer syndrome
- p.Val137= Single submitter sessile serrated polyposis cancer syndrome
- p.Val184= Single submitter sessile serrated polyposis cancer syndrome
Benign/Likely benign 71
- c.2309-15G>C Multiple submitters hereditary neoplastic syndrome
- c.582+30C>T Multiple submitters
- c.583-12C>T Multiple submitters sessile serrated polyposis cancer syndrome
- p.Ala11= Multiple submitters sessile serrated polyposis cancer syndrome
- p.Ala115= Multiple submitters sessile serrated polyposis cancer syndrome
- p.Ala129= Multiple submitters sessile serrated polyposis cancer syndrome
- p.Ala147= Multiple submitters sessile serrated polyposis cancer syndrome
- p.Ala193= Multiple submitters sessile serrated polyposis cancer syndrome
- p.Ala23= Multiple submitters sessile serrated polyposis cancer syndrome
- p.Ala239= Multiple submitters sessile serrated polyposis cancer syndrome
- p.Ala35= Multiple submitters sessile serrated polyposis cancer syndrome
- p.Ala46= Multiple submitters sessile serrated polyposis cancer syndrome
- p.Ala629Thr Multiple submitters sessile serrated polyposis cancer syndrome
- p.Ala70= Multiple submitters sessile serrated polyposis cancer syndrome
- p.Arg117= Multiple submitters sessile serrated polyposis cancer syndrome
- p.Arg221= Multiple submitters sessile serrated polyposis cancer syndrome
- p.Arg223= Multiple submitters sessile serrated polyposis cancer syndrome
- p.Arg235= Multiple submitters sessile serrated polyposis cancer syndrome
- p.Arg343His Multiple submitters hereditary neoplastic syndrome
- p.Arg529Trp Multiple submitters sessile serrated polyposis cancer syndrome
- p.Asn179= Multiple submitters sessile serrated polyposis cancer syndrome
- p.Asp140= Multiple submitters sessile serrated polyposis cancer syndrome
- p.Asp168= Multiple submitters sessile serrated polyposis cancer syndrome
- p.Asp628= Multiple submitters sessile serrated polyposis cancer syndrome
- p.Asp96= Multiple submitters sessile serrated polyposis cancer syndrome
- p.Cys252= Multiple submitters sessile serrated polyposis cancer syndrome
- p.Cys272= Multiple submitters sessile serrated polyposis cancer syndrome
- p.Gln242= Multiple submitters sessile serrated polyposis cancer syndrome
- p.Gly257= Multiple submitters sessile serrated polyposis cancer syndrome
- p.Gly263= Multiple submitters sessile serrated polyposis cancer syndrome
- p.Gly754Ala Multiple submitters sessile serrated polyposis cancer syndrome
- p.His183= Multiple submitters sessile serrated polyposis cancer syndrome
- p.Ile106= Multiple submitters sessile serrated polyposis cancer syndrome
- p.Ile212= Multiple submitters sessile serrated polyposis cancer syndrome
- p.Leu120= Multiple submitters sessile serrated polyposis cancer syndrome
- p.Leu157= Multiple submitters sessile serrated polyposis cancer syndrome
- p.Leu16= Multiple submitters sessile serrated polyposis cancer syndrome
- p.Leu172= Multiple submitters sessile serrated polyposis cancer syndrome
- p.Leu32= Multiple submitters sessile serrated polyposis cancer syndrome
- p.Leu88= Multiple submitters sessile serrated polyposis cancer syndrome
- p.Lys108= Multiple submitters sessile serrated polyposis cancer syndrome
- p.Lys181= Multiple submitters sessile serrated polyposis cancer syndrome
- p.Lys60= Multiple submitters sessile serrated polyposis cancer syndrome
- p.Pro112= Multiple submitters sessile serrated polyposis cancer syndrome
- p.Pro14= Multiple submitters sessile serrated polyposis cancer syndrome
- p.Pro154= Multiple submitters sessile serrated polyposis cancer syndrome
- p.Pro160= Multiple submitters sessile serrated polyposis cancer syndrome
- p.Pro192= Multiple submitters sessile serrated polyposis cancer syndrome
- p.Pro231= Multiple submitters sessile serrated polyposis cancer syndrome
- p.Pro231Leu Multiple submitters hereditary neoplastic syndrome
- p.Pro377= Multiple submitters sessile serrated polyposis cancer syndrome
- p.Pro434= Multiple submitters sessile serrated polyposis cancer syndrome
- p.Pro756= Multiple submitters
- p.Pro760= Multiple submitters hereditary neoplastic syndrome
- p.Pro87= Multiple submitters sessile serrated polyposis cancer syndrome
- p.Ser105= Multiple submitters sessile serrated polyposis cancer syndrome
- p.Ser135= Multiple submitters sessile serrated polyposis cancer syndrome
- p.Ser2= Multiple submitters sessile serrated polyposis cancer syndrome
- p.Ser216= Multiple submitters sessile serrated polyposis cancer syndrome
- p.Ser267= Multiple submitters sessile serrated polyposis cancer syndrome
- p.Ser41= Multiple submitters sessile serrated polyposis cancer syndrome
- p.Ser607= Multiple submitters hyperplastic polyposis syndrome
- p.Ser85= Multiple submitters sessile serrated polyposis cancer syndrome
- p.Thr158= Multiple submitters sessile serrated polyposis cancer syndrome
- p.Thr58= Multiple submitters sessile serrated polyposis cancer syndrome
- p.Val162= Multiple submitters sessile serrated polyposis cancer syndrome
- p.Val176= Multiple submitters sessile serrated polyposis cancer syndrome
- p.Val199= Multiple submitters hyperplastic polyposis syndrome
- p.Val205= Multiple submitters sessile serrated polyposis cancer syndrome
- p.Val211= Multiple submitters sessile serrated polyposis cancer syndrome
- p.Val68= Multiple submitters sessile serrated polyposis cancer syndrome
Likely benign 365
Showing the top 300 by review status; the full set is in the sitemap.
- c.2309-12C>T Multiple submitters sessile serrated polyposis cancer syndrome
- c.2309-15G>A Multiple submitters sessile serrated polyposis cancer syndrome
- c.2309-16C>T Multiple submitters sessile serrated polyposis cancer syndrome
- c.2309-4A>T Multiple submitters sessile serrated polyposis cancer syndrome
- c.253-10C>T Multiple submitters sessile serrated polyposis cancer syndrome
- c.253-16C>T Multiple submitters sessile serrated polyposis cancer syndrome
- c.253-20A>C Multiple submitters sessile serrated polyposis cancer syndrome
- c.253-4G>A Multiple submitters sessile serrated polyposis cancer syndrome
- c.253-9dup Multiple submitters sessile serrated polyposis cancer syndrome
- c.376-13dup Multiple submitters sessile serrated polyposis cancer syndrome
- c.376-14G>C Multiple submitters sessile serrated polyposis cancer syndrome
- c.376-15T>C Multiple submitters sessile serrated polyposis cancer syndrome
- c.376-18T>C Multiple submitters sessile serrated polyposis cancer syndrome
- c.450+19G>A Multiple submitters
- c.451-10C>T Multiple submitters sessile serrated polyposis cancer syndrome
- c.451-13T>C Multiple submitters sessile serrated polyposis cancer syndrome
- c.451-14C>T Multiple submitters sessile serrated polyposis cancer syndrome
- c.451-16C>T Multiple submitters sessile serrated polyposis cancer syndrome
- c.451-4G>A Multiple submitters sessile serrated polyposis cancer syndrome
- c.451-4G>C Multiple submitters sessile serrated polyposis cancer syndrome
- c.687+9T>C Multiple submitters sessile serrated polyposis cancer syndrome
- c.688-18C>T Multiple submitters sessile serrated polyposis cancer syndrome
- c.688-8C>T Multiple submitters sessile serrated polyposis cancer syndrome
- c.849+19T>C Multiple submitters
- c.850-12C>T Multiple submitters sessile serrated polyposis cancer syndrome
- c.850-13T>C Multiple submitters sessile serrated polyposis cancer syndrome
- c.850-15C>T Multiple submitters sessile serrated polyposis cancer syndrome
- c.953-18C>T Multiple submitters sessile serrated polyposis cancer syndrome
- c.953-7T>C Multiple submitters sessile serrated polyposis cancer syndrome
- c.*216C>T Multiple submitters
- p.Ala42= Multiple submitters
- p.Ala782= Multiple submitters
- p.Arg286= Multiple submitters
- p.Arg343= Multiple submitters hyperplastic polyposis syndrome
- p.Arg371= Multiple submitters
- p.Arg389= Multiple submitters
- p.Arg437= Multiple submitters
- p.Arg519= Multiple submitters
- p.Asn602= Multiple submitters
- p.Asp484= Multiple submitters sessile serrated polyposis cancer syndrome
- p.Cys431= Multiple submitters
- p.Cys678= Multiple submitters
- p.Cys762= Multiple submitters
- p.Gln781= Multiple submitters
- p.Glu293= Multiple submitters
- p.Glu742= Multiple submitters
- p.Gly327= Multiple submitters
- p.Gly407= Multiple submitters
- p.Gly489= Multiple submitters
- p.Gly492= Multiple submitters
- p.His340= Multiple submitters
- p.His348= Multiple submitters
- p.His395= Multiple submitters
- p.His547= Multiple submitters
- p.His556= Multiple submitters
- p.His761= Multiple submitters
- p.Leu291= Multiple submitters
- p.Leu339= Multiple submitters
- p.Leu341= Multiple submitters
- p.Leu405= Multiple submitters
- p.Leu418= Multiple submitters
- p.Leu435= Multiple submitters
- p.Leu458= Multiple submitters
- p.Leu619= Multiple submitters
- p.Leu735= Multiple submitters
- p.Leu775= Multiple submitters
- p.Lys560= Multiple submitters
- p.Lys81= Multiple submitters
- p.Phe279= Multiple submitters sessile serrated polyposis cancer syndrome
- p.Pro346= Multiple submitters
- p.Pro432= Multiple submitters
- p.Pro440= Multiple submitters
- p.Pro507= Multiple submitters
- p.Pro587= Multiple submitters
- p.Pro616= Multiple submitters
- p.Pro620= Multiple submitters
- p.Pro626= Multiple submitters
- p.Pro634= Multiple submitters
- p.Pro660= Multiple submitters
- p.Pro669= Multiple submitters
- p.Pro694= Multiple submitters
- p.Pro698= Multiple submitters
- p.Ser241= Multiple submitters
- p.Ser512= Multiple submitters
- p.Ser535= Multiple submitters
- p.Ser601= Multiple submitters
- p.Ser638= Multiple submitters
- p.Ser661= Multiple submitters
- p.Ser766= Multiple submitters
- p.Ter784= Multiple submitters
- p.Thr483= Multiple submitters
- p.Thr542= Multiple submitters
- p.Thr573= Multiple submitters
- p.Thr751= Multiple submitters
- p.Tyr357= Multiple submitters
- p.Tyr719= Multiple submitters
- p.Val287= Multiple submitters
- p.Val509= Multiple submitters
- p.Val520= Multiple submitters
- c.2308+20_2308+21del Single submitter
- c.2309-11dup Single submitter sessile serrated polyposis cancer syndrome
- c.2309-11T>C Single submitter sessile serrated polyposis cancer syndrome
- c.2309-14C>T Single submitter sessile serrated polyposis cancer syndrome
- c.2309-15_2309-14delinsCG Single submitter sessile serrated polyposis cancer syndrome
- c.2309-15G>T Single submitter sessile serrated polyposis cancer syndrome
- c.2309-18_2309-15delinsTCCC Single submitter sessile serrated polyposis cancer syndrome
- c.2309-18C>T Single submitter
- c.2309-19_2309-15delinsTCCCC Single submitter sessile serrated polyposis cancer syndrome
- c.2309-4A>G Single submitter sessile serrated polyposis cancer syndrome
- c.2309-5T>C Single submitter sessile serrated polyposis cancer syndrome
- c.252+10A>G Single submitter sessile serrated polyposis cancer syndrome
- c.252+13T>G Single submitter
- c.252+49C>T Single submitter
- c.252+50T>C Single submitter
- c.253-10C>G Single submitter
- c.253-12C>T Single submitter sessile serrated polyposis cancer syndrome
- c.253-14G>C Single submitter sessile serrated polyposis cancer syndrome
- c.253-18G>A Single submitter sessile serrated polyposis cancer syndrome
- c.253-6C>T Single submitter sessile serrated polyposis cancer syndrome
- c.253-8C>T Single submitter sessile serrated polyposis cancer syndrome
- c.375+15C>T Single submitter
- c.375+19C>T Single submitter
- c.375+21A>T Single submitter
- c.375+33A>G Single submitter
- c.375+44G>A Single submitter
- c.376-11T>C Single submitter sessile serrated polyposis cancer syndrome
- c.376-16C>T Single submitter sessile serrated polyposis cancer syndrome
- c.376-19C>T Single submitter sessile serrated polyposis cancer syndrome
- c.376-20T>C Single submitter sessile serrated polyposis cancer syndrome
- c.376-4G>A Single submitter
- c.376-8C>A Single submitter
- c.376-9C>T Single submitter sessile serrated polyposis cancer syndrome
- c.450+13A>G Single submitter
- c.450+15T>C Single submitter
- c.450+18C>T Single submitter
- c.450+20T>C Single submitter
- c.450+21G>T Single submitter
- c.450+29T>C Single submitter
- c.450+30G>T Single submitter
- c.450+46A>G Single submitter
- c.450+6C>T Single submitter sessile serrated polyposis cancer syndrome
- c.450+8G>A Single submitter sessile serrated polyposis cancer syndrome
- c.450+9G>A Single submitter sessile serrated polyposis cancer syndrome
- c.451-12T>C Single submitter sessile serrated polyposis cancer syndrome
- c.451-15A>G Single submitter sessile serrated polyposis cancer syndrome
- c.451-20T>C Single submitter sessile serrated polyposis cancer syndrome
- c.451-45del Single submitter
- c.451-7C>T Single submitter sessile serrated polyposis cancer syndrome
- c.451-9C>T Single submitter sessile serrated polyposis cancer syndrome
- c.582+14A>T Single submitter
- c.582+172G>A Single submitter
- c.582+46T>G Single submitter
- c.582+8C>T Single submitter sessile serrated polyposis cancer syndrome
- c.583-13G>C Single submitter
- c.583-17C>T Single submitter sessile serrated polyposis cancer syndrome
- c.583-19CT[2] Single submitter sessile serrated polyposis cancer syndrome
- c.583-37G>A Single submitter
- c.583-37G>C Single submitter
- c.583-38C>T Single submitter
- c.583-3del Single submitter sessile serrated polyposis cancer syndrome
- c.583-45C>T Single submitter
- c.687+11T>A Single submitter
- c.687+13G>A Single submitter
- c.687+16T>G Single submitter
- c.687+200C>G Single submitter
- c.687+20T>C Single submitter
- c.687+24G>A Single submitter
- c.687+40G>A Single submitter
- c.688-11C>T Single submitter sessile serrated polyposis cancer syndrome
- c.688-25A>G Single submitter
- c.688-4C>A Single submitter
- c.688-4C>T Single submitter sessile serrated polyposis cancer syndrome
- c.849+10G>A Single submitter sessile serrated polyposis cancer syndrome
- c.849+14T>C Single submitter
- c.849+20T>C Single submitter
- c.849+46T>C Single submitter
- c.849+8A>G Single submitter sessile serrated polyposis cancer syndrome
- c.849+9G>A Single submitter sessile serrated polyposis cancer syndrome
- c.850-10T>A Single submitter
- c.850-11T>G Single submitter
- c.850-19A>G Single submitter sessile serrated polyposis cancer syndrome
- c.850-6C>T Single submitter sessile serrated polyposis cancer syndrome
- c.850-8T>C Single submitter sessile serrated polyposis cancer syndrome
- c.952+10G>T Single submitter
- c.952+15A>G Single submitter
- c.952+169T>C Single submitter
- c.952+18del Single submitter
- c.952+37A>G Single submitter
- c.952+4G>A Single submitter sessile serrated polyposis cancer syndrome
- c.952+8G>A Single submitter sessile serrated polyposis cancer syndrome
- c.952+9T>C Single submitter sessile serrated polyposis cancer syndrome
- c.953-11C>T Single submitter sessile serrated polyposis cancer syndrome
- c.953-12T>C Single submitter sessile serrated polyposis cancer syndrome
- c.953-14G>A Single submitter sessile serrated polyposis cancer syndrome
- c.953-14G>C Single submitter
- c.953-17T>C Single submitter sessile serrated polyposis cancer syndrome
- c.953-19T>C Single submitter sessile serrated polyposis cancer syndrome
- c.953-34_953-30dup Single submitter
- c.953-5dup Single submitter sessile serrated polyposis cancer syndrome
- c.953-5T>C Single submitter
- c.953-6T>C Single submitter sessile serrated polyposis cancer syndrome
- c.-10A>G Single submitter
- c.-9G>A Single submitter
- c.*7C>G Single submitter
- p.Ala169= Single submitter
- p.Ala237= Single submitter
- p.Ala250= Single submitter
- p.Ala269Thr Single submitter
- p.Ala33= Single submitter
- p.Ala34= Single submitter
- p.Ala355= Single submitter
- p.Ala367= Single submitter
- p.Ala393= Single submitter
- p.Ala408= Single submitter
- p.Ala413= Single submitter
- p.Ala463= Single submitter
- p.Ala604= Single submitter
- p.Ala605= Single submitter
- p.Ala618= Single submitter
- p.Ala629= Single submitter
- p.Ala696= Single submitter
- p.Arg113Gln Single submitter
- p.Arg114= Single submitter
- p.Arg145= Single submitter
- p.Arg296= Single submitter
- p.Arg330= Single submitter
- p.Arg338= Single submitter
- p.Arg392= Single submitter
- p.Arg529= Single submitter
- p.Arg552= Single submitter
- p.Arg584= Single submitter
- p.Arg609= Single submitter
- p.Arg617= Single submitter
- p.Arg656= Single submitter
- p.Arg709= Single submitter
- p.Arg755= Single submitter
- p.Asn612= Single submitter
- p.Asn641= Single submitter
- p.Asn641Ile Single submitter
- p.Asn641Ser Single submitter
- p.Asp261= Single submitter
- p.Asp460= Single submitter
- p.Asp477= Single submitter
- p.Asp506= Single submitter
- p.Asp516= Single submitter
- p.Asp750= Single submitter
- p.Cys119= Single submitter
- p.Cys290= Single submitter
- p.Cys718= Single submitter
- p.Cys728= Single submitter
- p.Gln333= Single submitter
- p.Gln409= Single submitter
- p.Gln543= Single submitter
- p.Gln653= Single submitter
- p.Gln763= Single submitter
- p.Glu131= Single submitter
- p.Glu284= Single submitter
- p.Glu401= Single submitter
- p.Glu43= Single submitter
- p.Glu753= Single submitter
- p.Glu773= Single submitter
- p.Gly102= Single submitter
- p.Gly24= Single submitter
- p.Gly282= Single submitter
- p.Gly319Arg Single submitter
- p.Gly400= Single submitter
- p.Gly447= Single submitter
- p.Gly447Glu Single submitter
- p.Gly456= Single submitter
- p.Gly473= Single submitter
- p.Gly515= Single submitter
- p.Gly574= Single submitter
- p.Gly608= Single submitter
- p.Gly666= Single submitter
- p.Gly67= Single submitter
- p.Gly71= Single submitter
- p.Gly716= Single submitter
- p.Gly741= Single submitter
- p.Gly743= Single submitter
- p.Gly770= Single submitter
- p.His350= Single submitter
- p.His420= Single submitter
- p.His491= Single submitter
- p.His555= Single submitter
- p.His557= Single submitter
- p.His651= Single submitter
- p.His675= Single submitter
- p.His86= Single submitter
- p.Ile212Val Single submitter
- p.Ile48= Single submitter
- p.Leu155= Single submitter
- p.Leu218= Single submitter
- p.Leu285= Single submitter
- p.Leu30= Single submitter
- p.Leu311= Single submitter
- p.Leu358= Single submitter
- p.Leu421= Single submitter
- p.Leu487= Single submitter
- p.Leu501= Single submitter
- p.Leu61= Single submitter
Uncertain significance 828
Showing the top 300 by review status; the full set is in the sitemap.
- c.252+2C>G Multiple submitters
- c.687+5G>T Multiple submitters
- c.688-3C>T Multiple submitters sessile serrated polyposis cancer syndrome
- c.952+3_952+9del Multiple submitters
- p.Ala115Asp Multiple submitters ⚠
- p.Ala115Val Multiple submitters sessile serrated polyposis cancer syndrome ⚠
- p.Ala123Thr Multiple submitters ⚠
- p.Ala126Gly Multiple submitters ⚠
- p.Ala126Val Multiple submitters sessile serrated polyposis cancer syndrome ⚠
- p.Ala148Gly Multiple submitters sessile serrated polyposis cancer syndrome ⚠
- p.Ala169Ser Multiple submitters sessile serrated polyposis cancer syndrome ⚠
- p.Ala169Thr Multiple submitters ⚠
- p.Ala193Val Multiple submitters sessile serrated polyposis cancer syndrome ⚠
- p.Ala244Thr Multiple submitters sessile serrated polyposis cancer syndrome ⚠
- p.Ala250Asp Multiple submitters sessile serrated polyposis cancer syndrome ⚠
- p.Ala33Thr Multiple submitters ⚠
- p.Ala35Thr Multiple submitters sessile serrated polyposis cancer syndrome ⚠
- p.Ala35Val Multiple submitters sessile serrated polyposis cancer syndrome ⚠
- p.Ala406Pro Multiple submitters ⚠
- p.Ala406Val Multiple submitters ⚠
- p.Ala413Val Multiple submitters ⚠
- p.Ala604Val Multiple submitters ⚠
- p.Ala618Thr Multiple submitters ⚠
- p.Ala629Pro Multiple submitters ⚠
- p.Ala696Thr Multiple submitters sessile serrated polyposis cancer syndrome ⚠
- p.Arg114Gln Multiple submitters ⚠
- p.Arg114Leu Multiple submitters sessile serrated polyposis cancer syndrome ⚠
- p.Arg114Trp Multiple submitters sessile serrated polyposis cancer syndrome ⚠
- p.Arg117Cys Multiple submitters ⚠
- p.Arg127Trp Multiple submitters ⚠
- p.Arg132Gln Multiple submitters ⚠
- p.Arg219Cys Multiple submitters sessile serrated polyposis cancer syndrome ⚠
- p.Arg219His Multiple submitters sessile serrated polyposis cancer syndrome ⚠
- p.Arg221Trp Multiple submitters ⚠
- p.Arg223Cys Multiple submitters Inherited polyposis and early onset colorectal cancer - germline testing ⚠
- p.Arg223His Multiple submitters sessile serrated polyposis cancer syndrome ⚠
- p.Arg225Ser Multiple submitters ⚠
- p.Arg228Lys Multiple submitters sessile serrated polyposis cancer syndrome ⚠
- p.Arg228Ser Multiple submitters ⚠
- p.Arg246Thr Multiple submitters ⚠
- p.Arg256Trp Multiple submitters sessile serrated polyposis cancer syndrome ⚠
- p.Arg27Cys Multiple submitters sessile serrated polyposis cancer syndrome ⚠
- p.Arg27His Multiple submitters sessile serrated polyposis cancer syndrome ⚠
- p.Arg286Gln Multiple submitters sessile serrated polyposis cancer syndrome ⚠
- p.Arg286Trp Multiple submitters ⚠
- p.Arg296Cys Multiple submitters sessile serrated polyposis cancer syndrome ⚠
- p.Arg296His Multiple submitters sessile serrated polyposis cancer syndrome ⚠
- p.Arg296Pro Multiple submitters ⚠
- p.Arg307Gln Multiple submitters sessile serrated polyposis cancer syndrome ⚠
- p.Arg337Gly Multiple submitters ⚠
- p.Arg343Cys Multiple submitters sessile serrated polyposis cancer syndrome ⚠
- p.Arg368Gln Multiple submitters sessile serrated polyposis cancer syndrome ⚠
- p.Arg368Trp Multiple submitters sessile serrated polyposis cancer syndrome ⚠
- p.Arg386Trp Multiple submitters sessile serrated polyposis cancer syndrome ⚠
- p.Arg389Cys Multiple submitters sessile serrated polyposis cancer syndrome ⚠
- p.Arg392Ile Multiple submitters ⚠
- p.Arg392Thr Multiple submitters sessile serrated polyposis cancer syndrome ⚠
- p.Arg397Gln Multiple submitters RNF43-related disorder ⚠
- p.Arg397Trp Multiple submitters sessile serrated polyposis cancer syndrome ⚠
- p.Arg404Cys Multiple submitters sessile serrated polyposis cancer syndrome ⚠
- p.Arg436His Multiple submitters ⚠
- p.Arg436Ser Multiple submitters ⚠
- p.Arg454Cys Multiple submitters sessile serrated polyposis cancer syndrome ⚠
- p.Arg49Lys Multiple submitters ⚠
- p.Arg529Gln Multiple submitters hyperplastic polyposis syndrome ⚠
- p.Arg531Cys Multiple submitters sessile serrated polyposis cancer syndrome ⚠
- p.Arg552Cys Multiple submitters sessile serrated polyposis cancer syndrome ⚠
- p.Arg554Gln Multiple submitters sessile serrated polyposis cancer syndrome ⚠
- p.Arg561Trp Multiple submitters sessile serrated polyposis cancer syndrome ⚠
- p.Arg579Gly Multiple submitters sessile serrated polyposis cancer syndrome ⚠
- p.Arg584Gln Multiple submitters sessile serrated polyposis cancer syndrome ⚠
- p.Arg584Trp Multiple submitters sessile serrated polyposis cancer syndrome ⚠
- p.Arg654Lys Multiple submitters hyperplastic polyposis syndrome ⚠
- p.Arg657Gln Multiple submitters sessile serrated polyposis cancer syndrome ⚠
- p.Arg709Met Multiple submitters sessile serrated polyposis cancer syndrome ⚠
- p.Arg732Cys Multiple submitters sessile serrated polyposis cancer syndrome ⚠
- p.Arg732Gly Multiple submitters ⚠
- p.Arg755Lys Multiple submitters ⚠
- p.Asn167Asp Multiple submitters ⚠
- p.Asn167Ser Multiple submitters ⚠
- p.Asn481Asp Multiple submitters ⚠
- p.Asn62Ser Multiple submitters sessile serrated polyposis cancer syndrome ⚠
- p.Asn92Lys Multiple submitters ⚠
- p.Asp168Gly Multiple submitters ⚠
- p.Asp261Glu Multiple submitters hyperplastic polyposis syndrome ⚠
- p.Asp320Gly Multiple submitters ⚠
- p.Asp506Glu Multiple submitters ⚠
- p.Asp534His Multiple submitters ⚠
- p.Asp56Glu Multiple submitters ⚠
- p.Asp707Glu Multiple submitters ⚠
- p.Asp750His Multiple submitters sessile serrated polyposis cancer syndrome ⚠
- p.Cys431Tyr Multiple submitters ⚠
- p.Cys615Trp Multiple submitters ⚠
- p.Cys701Ser Multiple submitters ⚠
- p.Cys728Ter Multiple submitters sessile serrated polyposis cancer syndrome
- p.Cys762Arg Multiple submitters sessile serrated polyposis cancer syndrome ⚠
- p.Cys762Trp Multiple submitters ⚠
- p.Cys91Arg Multiple submitters ⚠
- p.Gln152Arg Multiple submitters sessile serrated polyposis cancer syndrome ⚠
- p.Gln180Glu Multiple submitters sessile serrated polyposis cancer syndrome ⚠
- p.Gln22His Multiple submitters sessile serrated polyposis cancer syndrome ⚠
- p.Gln305Arg Multiple submitters sessile serrated polyposis cancer syndrome ⚠
- p.Gln422Lys Multiple submitters ⚠
- p.Gln488Leu Multiple submitters sessile serrated polyposis cancer syndrome ⚠
- p.Gln518Arg Multiple submitters sessile serrated polyposis cancer syndrome ⚠
- p.Gln670Arg Multiple submitters ⚠
- p.Glu131Asp Multiple submitters ⚠
- p.Glu187Lys Multiple submitters ⚠
- p.Glu258Lys Multiple submitters ⚠
- p.Glu278Val Multiple submitters sessile serrated polyposis cancer syndrome
- p.Glu572Asp Multiple submitters ⚠
- p.Glu590Asp Multiple submitters ⚠
- p.Glu621Lys Multiple submitters ⚠
- p.Glu621Val Multiple submitters ⚠
- p.Glu662Lys Multiple submitters sessile serrated polyposis cancer syndrome ⚠
- p.Glu66Gly Multiple submitters sessile serrated polyposis cancer syndrome ⚠
- p.Glu713Asp Multiple submitters ⚠
- p.Glu713Gly Multiple submitters ⚠
- p.Glu742Lys Multiple submitters ⚠
- p.Glu774del Multiple submitters
- p.Glu776Lys Multiple submitters sessile serrated polyposis cancer syndrome ⚠
- p.Glu777del Multiple submitters hyperplastic polyposis syndrome
- p.Glu780Gln Multiple submitters sessile serrated polyposis cancer syndrome ⚠
- p.Gly156Ala Multiple submitters sessile serrated polyposis cancer syndrome ⚠
- p.Gly156Arg Multiple submitters sessile serrated polyposis cancer syndrome ⚠
- p.Gly166Asp Multiple submitters sessile serrated polyposis cancer syndrome ⚠
- p.Gly207Ser Multiple submitters ⚠
- p.Gly29Ala Multiple submitters ⚠
- p.Gly336Val Multiple submitters ⚠
- p.Gly347Ser Multiple submitters sessile serrated polyposis cancer syndrome ⚠
- p.Gly400Val Multiple submitters sessile serrated polyposis cancer syndrome ⚠
- p.Gly415Asp Multiple submitters ⚠
- p.Gly417Arg Multiple submitters sessile serrated polyposis cancer syndrome ⚠
- p.Gly445Glu Multiple submitters ⚠
- p.Gly461Arg Multiple submitters ⚠
- p.Gly473Ala Multiple submitters ⚠
- p.Gly489Arg Multiple submitters sessile serrated polyposis cancer syndrome ⚠
- p.Gly492Ser Multiple submitters sessile serrated polyposis cancer syndrome ⚠
- p.Gly515Glu Multiple submitters sessile serrated polyposis cancer syndrome ⚠
- p.Gly540Glu Multiple submitters sessile serrated polyposis cancer syndrome ⚠
- p.Gly566Asp Multiple submitters sessile serrated polyposis cancer syndrome ⚠
- p.Gly570Ser Multiple submitters sessile serrated polyposis cancer syndrome ⚠
- p.Gly574Arg Multiple submitters sessile serrated polyposis cancer syndrome ⚠
- p.Gly59Arg Multiple submitters sessile serrated polyposis cancer syndrome
- p.Gly608Arg Multiple submitters sessile serrated polyposis cancer syndrome ⚠
- p.Gly659Asp Multiple submitters sessile serrated polyposis cancer syndrome ⚠
- p.Gly67Asp Multiple submitters sessile serrated polyposis cancer syndrome ⚠
- p.Gly716Ser Multiple submitters sessile serrated polyposis cancer syndrome ⚠
- p.Gly716Val Multiple submitters sessile serrated polyposis cancer syndrome ⚠
- p.Gly743Arg Multiple submitters ⚠
- p.Gly754= Multiple submitters sessile serrated polyposis cancer syndrome
- p.His183Arg Multiple submitters sessile serrated polyposis cancer syndrome ⚠
- p.His304Tyr Multiple submitters ⚠
- p.His472Leu Multiple submitters ⚠
- p.His547Arg Multiple submitters sessile serrated polyposis cancer syndrome ⚠
- p.His549Tyr Multiple submitters
- p.His557Arg Multiple submitters sessile serrated polyposis cancer syndrome ⚠
- p.His557Gln Multiple submitters ⚠
- p.His651Asn Multiple submitters sessile serrated polyposis cancer syndrome ⚠
- p.His651Gln Multiple submitters sessile serrated polyposis cancer syndrome ⚠
- p.His697Arg Multiple submitters sessile serrated polyposis cancer syndrome ⚠
- p.His738Arg Multiple submitters ⚠
- p.His761Arg Multiple submitters ⚠
- p.Ile106Ser Multiple submitters ⚠
- p.Ile209Met Multiple submitters ⚠
- p.Ile209Thr Multiple submitters sessile serrated polyposis cancer syndrome ⚠
- p.Ile212Met Multiple submitters sessile serrated polyposis cancer syndrome ⚠
- p.Ile48Asn Multiple submitters ⚠
- p.Ile632Thr Multiple submitters ⚠
- p.Ile632Val Multiple submitters ⚠
- p.Ile700Met Multiple submitters ⚠
- p.Leu109Met Multiple submitters ⚠
- p.Leu202Pro Multiple submitters ⚠
- p.Leu214Val Multiple submitters sessile serrated polyposis cancer syndrome ⚠
- p.Leu326Pro Multiple submitters ⚠
- p.Leu353Val Multiple submitters ⚠
- p.Leu358Met Multiple submitters ⚠
- p.Leu418Ile Multiple submitters sessile serrated polyposis cancer syndrome
- p.Leu508Ile Multiple submitters sessile serrated polyposis cancer syndrome ⚠
- p.Leu710Gln Multiple submitters ⚠
- p.Leu711del Multiple submitters sessile serrated polyposis cancer syndrome
- p.Leu7Pro Multiple submitters
- p.Leu9Val Multiple submitters ⚠
- p.Lys178Arg Multiple submitters ⚠
- p.Lys559Gln Multiple submitters sessile serrated polyposis cancer syndrome ⚠
- p.Met173Arg Multiple submitters sessile serrated polyposis cancer syndrome ⚠
- p.Met313Val Multiple submitters sessile serrated polyposis cancer syndrome
- p.Met522Arg Multiple submitters ⚠
- p.Met55Val Multiple submitters ⚠
- p.Met83Val Multiple submitters sessile serrated polyposis cancer syndrome ⚠
- p.Phe322Tyr Multiple submitters ⚠
- p.Phe375Leu Multiple submitters ⚠
- p.Phe497Leu Multiple submitters sessile serrated polyposis cancer syndrome ⚠
- p.Phe562Cys Multiple submitters sessile serrated polyposis cancer syndrome ⚠
- p.Pro112Ser Multiple submitters ⚠
- p.Pro116Leu Multiple submitters ⚠
- p.Pro116Ser Multiple submitters ⚠
- p.Pro154Leu Multiple submitters ⚠
- p.Pro191Ser Multiple submitters ⚠
- p.Pro191Thr Multiple submitters sessile serrated polyposis cancer syndrome ⚠
- p.Pro195Leu Multiple submitters sessile serrated polyposis cancer syndrome ⚠
- p.Pro229= Multiple submitters sessile serrated polyposis cancer syndrome
- p.Pro260Arg Multiple submitters sessile serrated polyposis cancer syndrome ⚠
- p.Pro310Ser Multiple submitters ⚠
- p.Pro328Leu Multiple submitters ⚠
- p.Pro361Leu Multiple submitters ⚠
- p.Pro369Ser Multiple submitters ⚠
- p.Pro411Leu Multiple submitters ⚠
- p.Pro411Thr Multiple submitters ⚠
- p.Pro428Ser Multiple submitters ⚠
- p.Pro440Ser Multiple submitters ⚠
- p.Pro440Thr Multiple submitters ⚠
- p.Pro470Ser Multiple submitters ⚠
- p.Pro507Arg Multiple submitters
- p.Pro507Thr Multiple submitters
- p.Pro530Arg Multiple submitters ⚠
- p.Pro530Leu Multiple submitters ⚠
- p.Pro569Ser Multiple submitters hyperplastic polyposis syndrome ⚠
- p.Pro57Ser Multiple submitters ⚠
- p.Pro606His Multiple submitters ⚠
- p.Pro613Ala Multiple submitters ⚠
- p.Pro620Ser Multiple submitters ⚠
- p.Pro652Gln Multiple submitters ⚠
- p.Pro652Ser Multiple submitters ⚠
- p.Pro665Arg Multiple submitters ⚠
- p.Pro669Leu Multiple submitters ⚠
- p.Pro669Ser Multiple submitters ⚠
- p.Pro686Thr Multiple submitters sessile serrated polyposis cancer syndrome ⚠
- p.Pro698Leu Multiple submitters sessile serrated polyposis cancer syndrome ⚠
- p.Pro703Leu Multiple submitters sessile serrated polyposis cancer syndrome ⚠
- p.Pro712Leu Multiple submitters ⚠
- p.Pro739Ala Multiple submitters ⚠
- p.Pro740Ser Multiple submitters ⚠
- p.Pro756Arg Multiple submitters sessile serrated polyposis cancer syndrome ⚠
- p.Pro760Leu Multiple submitters sessile serrated polyposis cancer syndrome ⚠
- p.Pro769Ala Multiple submitters sessile serrated polyposis cancer syndrome ⚠
- p.Pro87Leu Multiple submitters hyperplastic polyposis syndrome ⚠
- p.Ser227Asn Multiple submitters hyperplastic polyposis syndrome ⚠
- p.Ser241Gly Multiple submitters sessile serrated polyposis cancer syndrome ⚠
- p.Ser264Asn Multiple submitters ⚠
- p.Ser265Cys Multiple submitters ⚠
- p.Ser265Thr Multiple submitters ⚠
- p.Ser268Pro Multiple submitters ⚠
- p.Ser321Ter Multiple submitters
- p.Ser329Pro Multiple submitters sessile serrated polyposis cancer syndrome ⚠
- p.Ser378Cys Multiple submitters sessile serrated polyposis cancer syndrome ⚠
- p.Ser378Pro Multiple submitters ⚠
- p.Ser444Asn Multiple submitters ⚠
- p.Ser493Asn Multiple submitters sessile serrated polyposis cancer syndrome ⚠
- p.Ser494Thr Multiple submitters ⚠
- p.Ser502Gly Multiple submitters sessile serrated polyposis cancer syndrome ⚠
- p.Ser535Ala Multiple submitters ⚠
- p.Ser535Leu Multiple submitters hyperplastic polyposis syndrome ⚠
- p.Ser601Pro Multiple submitters ⚠
- p.Ser601Thr Multiple submitters ⚠
- p.Ser638Cys Multiple submitters sessile serrated polyposis cancer syndrome ⚠
- p.Ser745_Glu746insHisProProGlyGluGlyProSer Multiple submitters
- p.Ser748Asn Multiple submitters ⚠
- p.Ser748Gly Multiple submitters sessile serrated polyposis cancer syndrome ⚠
- p.Ser766Leu Multiple submitters ⚠
- p.Thr158Ala Multiple submitters sessile serrated polyposis cancer syndrome ⚠
- p.Thr20Pro Multiple submitters ⚠
- p.Thr28Pro Multiple submitters ⚠
- p.Thr483Met Multiple submitters
- p.Thr496Ala Multiple submitters ⚠
- p.Thr58Ala Multiple submitters sessile serrated polyposis cancer syndrome ⚠
- p.Thr664Ala Multiple submitters ⚠
- p.Trp692Arg Multiple submitters ⚠
- p.Tyr412Cys Multiple submitters ⚠
- p.Tyr690His Multiple submitters ⚠
- p.Tyr759Cys Multiple submitters ⚠
- p.Val36Ala Multiple submitters sessile serrated polyposis cancer syndrome ⚠
- p.Val479Ala Multiple submitters ⚠
- p.Val536Leu Multiple submitters ⚠
- p.Val575Ala Multiple submitters ⚠
- p.Val627Gly Multiple submitters ⚠
- p.Val627Leu Multiple submitters ⚠
- c.2309-1G>C Single submitter
- c.2309-6A>G Single submitter
- c.253-3C>A Single submitter
- c.376-15TG[4] Single submitter hereditary neoplastic syndrome
- c.450+5C>T Single submitter
- c.451-19G>A Single submitter
- c.451-5T>C Single submitter
- c.583-18T>G Single submitter
- c.687+2T>C Single submitter
- c.687+6C>A Single submitter
- c.849+3_849+4del Single submitter
- c.850-3C>T Single submitter
- c.952+2T>C Single submitter
- c.952+2T>G Single submitter
- c.-2G>A Single submitter
- c.-4T>C Single submitter
- p.Ala123Ser Single submitter ⚠
- p.Ala126Ser Single submitter ⚠
- p.Ala129Val Single submitter ⚠
- p.Ala134Thr Single submitter ⚠
- p.Ala136Val Single submitter ⚠
- p.Ala147Pro Single submitter ⚠
- p.Ala169Val Single submitter ⚠