Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Pathways
Variants search result for Homo sapiens
(View Results for all Objects and Ontologies)


1001 records found for search term Rnf4
Refine Term:
Assembly:
    Chr  
Sort By:
           Export CSV TAB Print

RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
597687935CV3590477single nucleotide variantNM_002938.5(RNF4):c.17G>A (p.Arg6His)not specified [RCV004858548]uncertain significance424970142497014Humanname
156387555CV2221545single nucleotide variantNM_002938.5(RNF4):c.47C>T (p.Ala16Val)not specified [RCV004096812]uncertain significance424970442497044Humanname
156345015CV2372854single nucleotide variantNM_002938.5(RNF4):c.74C>T (p.Ser25Phe)not specified [RCV004222036]uncertain significance424970712497071Humanname
401750108CV2695941single nucleotide variantNM_002938.5(RNF4):c.70A>C (p.Thr24Pro)not specified [RCV004308211]uncertain significance424970672497067Humanname
407508795CV3479763single nucleotide variantNM_002938.5(RNF4):c.91T>G (p.Leu31Val)not specified [RCV004672158]uncertain significance424970882497088Humanname
597687945CV3590478single nucleotide variantNM_002938.5(RNF4):c.435T>C (p.Asn145=)not specified [RCV004858549]likely benign425136812513681Humanname
156232551CV2346122single nucleotide variantNM_002938.5(RNF4):c.234G>T (p.Arg78Ser)not specified [RCV004201585]uncertain significance425124572512457Humanname
401894166CV2770374single nucleotide variantNM_002938.5(RNF4):c.296A>T (p.Glu99Val)not specified [RCV004358023]uncertain significance425125192512519Humanname
407486818CV3479762single nucleotide variantNM_002938.5(RNF4):c.289G>A (p.Asp97Asn)not specified [RCV004665524]uncertain significance425125122512512Humanname
597755309CV3590474single nucleotide variantNM_002938.5(RNF4):c.161T>C (p.Leu54Ser)not specified [RCV004847584]uncertain significance425006952500695Humanname
598205412CV3909677single nucleotide variantNM_002938.5(RNF4):c.106A>G (p.Ile36Val)not specified [RCV005269696]uncertain significance424971032497103Humanname
155961731CV2311944single nucleotide variantNM_002938.5(RNF4):c.343A>C (p.Asn115His)not specified [RCV004170766]uncertain significance425125662512566Humanname
156269464CV2379285single nucleotide variantNM_002938.5(RNF4):c.305G>A (p.Arg102Lys)not specified [RCV004223754]uncertain significance425125282512528Humanname
401753649CV2722539single nucleotide variantNM_002938.5(RNF4):c.365C>T (p.Thr122Ile)not specified [RCV004322921]uncertain significance425125882512588Humanname
407486812CV3479760single nucleotide variantNM_002938.5(RNF4):c.506A>G (p.Asn169Ser)not specified [RCV004665523]uncertain significance425137522513752Humanname
597687928CV3590475single nucleotide variantNM_002938.5(RNF4):c.562A>G (p.Ile188Val)not specified [RCV004858547]uncertain significance425138082513808Humanname
597755313CV3590476single nucleotide variantNM_002938.5(RNF4):c.440G>A (p.Arg147His)not specified [RCV004847585]uncertain significance425136862513686Humanname
598205420CV3909678single nucleotide variantNM_002938.5(RNF4):c.524C>G (p.Thr175Ser)not specified [RCV005269697]uncertain significance425137702513770Humanname
153302916CV1690006single nucleotide variantNM_017763.6(RNF43):c.-9G>Anot specified [RCV002268906]likely benign175841558658415586Humanname
408365759CV3500048single nucleotide variantNM_017763.6(RNF43):c.*8A>Gnot provided [RCV004722091]uncertain significance175835493558354935Humanname
401797979CV2741192single nucleotide variantNM_017763.6(RNF43):c.-10A>Gnot specified [RCV003322355]uncertain significance175841558758415587Humanname
150541774CV1306543single nucleotide variantNM_017763.6(RNF43):c.*216C>Tnot provided [RCV001768166]likely benign175835472758354727Humanname
126758786CV1033442single nucleotide variantNM_017763.6(RNF43):c.253-3C>Anot provided [RCV001339944]uncertain significance175837103658371036Humanname
126919638CV1050426single nucleotide variantNM_017763.6(RNF43):c.687+5G>Tnot provided [RCV001362411]uncertain significance175836253958362539Humanname
126924743CV1050427single nucleotide variantNM_017763.6(RNF43):c.687+2T>Cnot provided [RCV001367380]uncertain significance175836254258362542Humanname
127254621CV1083311single nucleotide variantNM_017763.6(RNF43):c.953-5T>Cnot provided [RCV001400840]likely benign175835882858358828Humanname
127250958CV1083315single nucleotide variantNM_017763.6(RNF43):c.376-4G>Anot provided [RCV001417683]likely benign175836360458363604Humanname
151750076CV1357343single nucleotide variantNM_017763.6(RNF43):c.688-3C>TSessile serrated polyposis cancer syndrome [RCV005014718]|not provided [RCV001872169]|not specified [RCV005271413]uncertain significance175836094758360947Human1name
151798404CV1376642single nucleotide variantNM_017763.6(RNF43):c.687+6C>Anot provided [RCV001932077]uncertain significance175836253858362538Humanname
151790851CV1436167single nucleotide variantNM_017763.6(RNF43):c.687+3G>Anot provided [RCV001990065]uncertain significance175836254158362541Humanname
151764067CV1468078single nucleotide variantNM_017763.6(RNF43):c.253-4G>Anot provided [RCV001949485]likely benign175837103758371037Humanname
152120562CV1547409single nucleotide variantNM_017763.6(RNF43):c.953-7T>Cnot provided [RCV002081492]likely benign175835883058358830Humanname
152041692CV1553583deletionNM_017763.6(RNF43):c.451-5delnot provided [RCV002088047]likely benign175836341158363411Humanname
152162523CV1624012single nucleotide variantNM_017763.6(RNF43):c.687+9T>CSessile serrated polyposis cancer syndrome [RCV005361966]|not provided [RCV002159895]likely benign175836253558362535Human1name
156223037CV2037783single nucleotide variantNM_017763.6(RNF43):c.688-8C>Tnot provided [RCV002790700]likely benign175836095258360952Humanname
155966928CV2156103single nucleotide variantNM_017763.6(RNF43):c.952+2T>Cnot provided [RCV003015749]uncertain significance175836014758360147Humanname
156365285CV2176917single nucleotide variantNM_017763.6(RNF43):c.952+2T>Gnot provided [RCV003049304]uncertain significance175836014758360147Humanname
401860910CV2750313single nucleotide variantNM_017763.6(RNF43):c.952+5G>CSessile serrated polyposis cancer syndrome [RCV003333857]uncertain significance175836014458360144Human1name
402501500CV2932330single nucleotide variantNM_017763.6(RNF43):c.376-8C>Anot provided [RCV003574039]likely benign175836360858363608Humanname
405204199CV2986263single nucleotide variantNM_017763.6(RNF43):c.688-7T>Cnot provided [RCV003678499]likely benign|conflicting interpretations of pathogenicity175836095158360951Humanname
405217558CV3055686duplicationNM_017763.6(RNF43):c.253-9dupnot provided [RCV003732738]likely benign175837104158371042Humanname
405179068CV3060342single nucleotide variantNM_017763.6(RNF43):c.850-3C>Tnot provided [RCV003728606]uncertain significance175836025458360254Humanname
597847493CV3792807single nucleotide variantNM_017763.6(RNF43):c.252+2C>Gnot provided [RCV005144943]uncertain significance175841532458415324Humanname
598127351CV3882614single nucleotide variantNM_017763.6(RNF43):c.375+2T>Cnot provided [RCV005234144]not provided175837090958370909Humanname
598205940CV3909753single nucleotide variantNM_017763.6(RNF43):c.451-5T>Cnot specified [RCV005269772]uncertain significance175836341158363411Humanname
127242520CV1083312single nucleotide variantNM_017763.6(RNF43):c.952+10G>Tnot provided [RCV001393353]likely benign175836013958360139Humanname
150339732CV1167693single nucleotide variantNM_017763.6(RNF43):c.582+30C>Tnot provided [RCV001534519]|not specified [RCV002268508]benign|likely benign175836324558363245Humanname
150498613CV1224166single nucleotide variantNM_005785.4(RNF41):c.91-137A>Gnot provided [RCV001620279]benign125621070556210705Humanname
150500824CV1224865single nucleotide variantNM_005785.4(RNF41):c.-23-73G>Anot provided [RCV001620697]benign125621414356214143Humanname
150470215CV1268225single nucleotide variantNM_005785.4(RNF41):c.91-121G>Anot provided [RCV001695089]benign125621068956210689Humanname
150456650CV1269105single nucleotide variantNM_017763.6(RNF43):c.582+94C>Anot provided [RCV001692929]benign175836318158363181Humanname
151756494CV1490734single nucleotide variantNM_017763.6(RNF43):c.253-10C>Gnot provided [RCV001948665]likely benign|uncertain significance175837104358371043Humanname
152088678CV1527576single nucleotide variantNM_017763.6(RNF43):c.850-10T>Anot provided [RCV002093868]likely benign175836026158360261Humanname
152088792CV1527658single nucleotide variantNM_017763.6(RNF43):c.450+19G>Anot provided [RCV002093883]|not specified [RCV002268622]likely benign175836350758363507Humanname
152143566CV1538424single nucleotide variantNM_017763.6(RNF43):c.849+20T>Cnot provided [RCV002219696]likely benign175836076358360763Humanname
152127341CV1545042single nucleotide variantNM_017763.6(RNF43):c.850-12C>Tnot provided [RCV002155053]likely benign175836026358360263Humanname
152076310CV1551428single nucleotide variantNM_017763.6(RNF43):c.582+14A>Tnot provided [RCV002192456]likely benign175836326158363261Humanname
152154522CV1556403single nucleotide variantNM_017763.6(RNF43):c.451-13T>Cnot provided [RCV002122228]likely benign175836341958363419Humanname
152154590CV1556445single nucleotide variantNM_017763.6(RNF43):c.849+19T>Cnot provided [RCV002122237]|not specified [RCV002268612]likely benign175836076458360764Humanname
152154776CV1556521single nucleotide variantNM_017763.6(RNF43):c.952+15A>Gnot provided [RCV002122263]likely benign175836013458360134Humanname
152112351CV1573303single nucleotide variantNM_017763.6(RNF43):c.953-18C>Tnot provided [RCV002215666]likely benign175835884158358841Humanname
152103268CV1574588single nucleotide variantNM_017763.6(RNF43):c.2309-4A>Tnot provided [RCV002095807]likely benign175835499058354990Humanname
152113190CV1586644single nucleotide variantNM_017763.6(RNF43):c.687+20T>Cnot provided [RCV002197056]likely benign175836252458362524Humanname
152055886CV1590958single nucleotide variantNM_017763.6(RNF43):c.376-18T>Cnot provided [RCV002109533]likely benign175836361858363618Humanname
152120941CV1593903single nucleotide variantNM_017763.6(RNF43):c.583-12C>TSessile serrated polyposis cancer syndrome [RCV005361957]|not provided [RCV002098139]benign|likely benign175836266058362660Human1name
152075837CV1604424single nucleotide variantNM_017763.6(RNF43):c.375+17C>Tnot provided [RCV002092206]benign175837089458370894Humanname
153302904CV1690000single nucleotide variantNM_017763.6(RNF43):c.849+46T>Cnot specified [RCV002268900]likely benign175836073758360737Humanname
153302908CV1690002single nucleotide variantNM_017763.6(RNF43):c.688-25A>Gnot specified [RCV002268902]likely benign175836096958360969Humanname
153302910CV1690003single nucleotide variantNM_017763.6(RNF43):c.583-37G>Cnot specified [RCV002268903]likely benign175836268558362685Humanname
153302911CV1690004single nucleotide variantNM_017763.6(RNF43):c.450+46A>Gnot specified [RCV002268904]likely benign175836348058363480Humanname
155795099CV1859023single nucleotide variantNM_017763.6(RNF43):c.2308+1G>TSessile serrated polyposis cancer syndrome [RCV002463988]likely pathogenic175835746758357467Human1name
155799722CV1859949single nucleotide variantNM_017763.6(RNF43):c.952+37A>Gnot specified [RCV002466193]likely benign175836011258360112Humanname
155799725CV1859951single nucleotide variantNM_017763.6(RNF43):c.583-38C>Tnot specified [RCV002466195]likely benign175836268658362686Humanname
155799727CV1859952deletionNM_017763.6(RNF43):c.451-45delnot specified [RCV002466196]likely benign175836345158363451Humanname
155799729CV1859953single nucleotide variantNM_017763.6(RNF43):c.450+30G>Tnot specified [RCV002466197]likely benign175836349658363496Humanname
156316244CV1903622single nucleotide variantNM_017763.6(RNF43):c.451-10C>Tnot provided [RCV003088736]likely benign175836341658363416Humanname
156443042CV1946223single nucleotide variantNM_017763.6(RNF43):c.849+14T>Cnot provided [RCV003113409]likely benign175836076958360769Humanname
156448418CV1950696single nucleotide variantNM_017763.6(RNF43):c.450+13A>Gnot provided [RCV003119980]likely benign175836351358363513Humanname
156448524CV1950807single nucleotide variantNM_017763.6(RNF43):c.376-15T>Cnot provided [RCV003120086]likely benign175836361558363615Humanname
156446069CV1951096single nucleotide variantNM_017763.6(RNF43):c.253-16C>Tnot provided [RCV003117032]likely benign175837104958371049Humanname
156446100CV1951124single nucleotide variantNM_017763.6(RNF43):c.252+13T>Gnot provided [RCV003117064]likely benign175841531358415313Humanname
156211981CV1997148single nucleotide variantNM_017763.6(RNF43):c.688-18C>Tnot provided [RCV002666878]likely benign175836096258360962Humanname
156137165CV2097409single nucleotide variantNM_017763.6(RNF43):c.687+11T>Anot provided [RCV002890165]likely benign175836253358362533Humanname
156094906CV2102859single nucleotide variantNM_017763.6(RNF43):c.850-11T>Gnot provided [RCV002913178]uncertain significance175836026258360262Humanname
401797869CV2741183single nucleotide variantNM_017763.6(RNF43):c.687+40G>Anot specified [RCV003322346]likely benign175836250458362504Humanname
401797871CV2741184single nucleotide variantNM_017763.6(RNF43):c.583-45C>Tnot specified [RCV003322347]likely benign175836269358362693Humanname
401797872CV2741185single nucleotide variantNM_017763.6(RNF43):c.582+46T>Gnot specified [RCV003322348]likely benign175836322958363229Humanname
401797876CV2741187single nucleotide variantNM_017763.6(RNF43):c.450+21G>Tnot specified [RCV003322350]likely benign175836350558363505Humanname
401797877CV2741188single nucleotide variantNM_017763.6(RNF43):c.375+21A>Tnot specified [RCV003322351]likely benign175837089058370890Humanname
401797976CV2741189single nucleotide variantNM_017763.6(RNF43):c.252+50T>Cnot specified [RCV003322352]likely benign175841527658415276Humanname
401797978CV2741190single nucleotide variantNM_017763.6(RNF43):c.252+49C>Tnot specified [RCV003322353]likely benign175841527758415277Humanname
405225257CV3058224duplicationNM_017763.6(RNF43):c.376-13dupnot provided [RCV003733853]likely benign175836361258363613Humanname
405225060CV3058371deletionNM_017763.6(RNF43):c.952+18delnot provided [RCV003733899]likely benign175836013158360131Humanname
405223344CV3061278single nucleotide variantNM_017763.6(RNF43):c.687+16T>Gnot provided [RCV003733651]likely benign175836252858362528Humanname
405224734CV3061363single nucleotide variantNM_017763.6(RNF43):c.850-13T>Cnot provided [RCV003733689]likely benign175836026458360264Humanname
405187524CV3068961single nucleotide variantNM_017763.6(RNF43):c.253-10C>Tnot provided [RCV003729410]likely benign175837104358371043Humanname
405186368CV3124365single nucleotide variantNM_017763.6(RNF43):c.687+13G>Anot provided [RCV003820564]likely benign175836253158362531Humanname
405180688CV3159438single nucleotide variantNM_017763.6(RNF43):c.450+20T>Cnot provided [RCV003858688]likely benign175836350658363506Humanname
405236957CV3169062single nucleotide variantNM_017763.6(RNF43):c.583-18T>Gnot provided [RCV003866341]uncertain significance175836266658362666Humanname
407488502CV3415116single nucleotide variantNM_017763.6(RNF43):c.687+24G>Anot specified [RCV004597452]likely benign175836252058362520Humanname
407488510CV3415117single nucleotide variantNM_017763.6(RNF43):c.583-13G>Cnot specified [RCV004597453]likely benign175836266158362661Humanname
407489795CV3415118single nucleotide variantNM_017763.6(RNF43):c.376-14G>Cnot specified [RCV004597454]likely benign175836361458363614Humanname
597964701CV3750963single nucleotide variantNM_017763.6(RNF43):c.451-19G>Anot provided [RCV005082525]uncertain significance175836342558363425Humanname
597954514CV3754064single nucleotide variantNM_017763.6(RNF43):c.451-14C>Tnot provided [RCV005080107]likely benign175836342058363420Humanname
597952300CV3756600single nucleotide variantNM_017763.6(RNF43):c.253-20A>Cnot provided [RCV005079657]likely benign175837105358371053Humanname
597879400CV3810126single nucleotide variantNM_017763.6(RNF43):c.450+15T>Cnot provided [RCV005149589]likely benign175836351158363511Humanname
597948683CV3848727single nucleotide variantNM_017763.6(RNF43):c.450+18C>Tnot provided [RCV005189664]likely benign175836350858363508Humanname
597862286CV3860520single nucleotide variantNM_017763.6(RNF43):c.2309-1G>Cnot provided [RCV005196048]uncertain significance175835498758354987Humanname
598124108CV3881262single nucleotide variantNM_017763.6(RNF43):c.953-14G>Cnot specified [RCV005231686]likely benign175835883758358837Humanname
598124109CV3881263single nucleotide variantNM_017763.6(RNF43):c.850-15C>Tnot specified [RCV005231687]likely benign175836026658360266Humanname
598124110CV3881264single nucleotide variantNM_017763.6(RNF43):c.375+44G>Anot specified [RCV005231688]likely benign175837086758370867Humanname
150500479CV1224798single nucleotide variantNM_017763.6(RNF43):c.582+162C>Tnot provided [RCV001620630]benign175836311358363113Humanname
150494747CV1224952single nucleotide variantNM_017763.6(RNF43):c.2309-29C>Tnot provided [RCV001619430]|not specified [RCV002268541]benign175835501558355015Humanname
150474350CV1234436single nucleotide variantNM_005785.4(RNF41):c.602+193T>Cnot provided [RCV001651756]benign125620745356207453Humanname
150453213CV1255057single nucleotide variantNM_017763.6(RNF43):c.-385-51T>Anot provided [RCV001668116]benign175841601358416013Humanname
150506416CV1257334single nucleotide variantNM_005785.4(RNF41):c.499-206C>Anot provided [RCV001678173]benign125620795556207955Humanname
150503046CV1257699single nucleotide variantNM_017763.6(RNF43):c.582+110C>Tnot provided [RCV001677387]benign175836316558363165Humanname
150475684CV1271227single nucleotide variantNM_017763.6(RNF43):c.849+102A>Cnot provided [RCV001696050]benign175836068158360681Humanname
150446092CV1278261single nucleotide variantNM_017763.6(RNF43):c.375+220T>Cnot provided [RCV001707404]benign175837069158370691Human2name
150446092CV1278261single nucleotide variantNM_017763.6(RNF43):c.375+220T>Cnot provided [RCV001707404]benign175837069158370692Human2name
150535697CV1306995single nucleotide variantNM_017763.6(RNF43):c.687+200C>Gnot provided [RCV001759049]likely benign175836234458362344Humanname
150534583CV1308537single nucleotide variantNM_017763.6(RNF43):c.582+172G>Anot provided [RCV001757582]likely benign175836310358363103Humanname
150532580CV1309293single nucleotide variantNM_017763.6(RNF43):c.952+169T>Cnot provided [RCV001752974]likely benign175835998058359980Humanname
152090448CV1580830single nucleotide variantNM_017763.6(RNF43):c.2309-15G>AHyperplastic polyposis syndrome [RCV005361972]|not provided [RCV002094099]|not specified [RCV004596520]likely benign175835500158355001Humanname
405135464CV3115664single nucleotide variantNM_017763.6(RNF43):c.2309-12C>Tnot provided [RCV003816321]likely benign175835499858354998Humanname
597949421CV3852544single nucleotide variantNM_017763.6(RNF43):c.2309-16C>Tnot provided [RCV005189622]likely benign175835500258355002Humanname
12896628CV390359single nucleotide variantNM_017763.6(RNF43):c.2309-15G>Cnot provided [RCV001672772]|not specified [RCV000455604]benign175835500158355001Humanname
8628041CV83185single nucleotide variantNM_017763.5(RNF43):c.2308+93G>AMalignant melanoma [RCV000063265]not provided175835737558357375Humanname
8585463CV120050single nucleotide variantNM_017763.5(RNF43):c.252+2833A>GLung cancer [RCV000100570]uncertain significance175841249358412493Humanname
408381693CV3502000microsatelliteNM_017763.6(RNF43):c.253-12CT[2]not provided [RCV004729528]uncertain significance175837103858371041Humanname
598198586CV4007198microsatelliteNM_017763.6(RNF43):c.376-15TG[4]Hereditary cancer-predisposing syndrome [RCV005398028]uncertain significance175836360958363610Humanname
152175283CV1602185microsatelliteNM_017763.6(RNF43):c.2309-14CT[2]not provided [RCV002163454]likely benign|conflicting interpretations of pathogenicity175835499558354996Humanname
150466224CV1255704microsatelliteNM_005785.4(RNF41):c.91-66_91-65delnot provided [RCV001670338]benign125621063356210634Humanname
155799723CV1859950deletionNM_017763.6(RNF43):c.952+3_952+9delnot specified [RCV002466194]uncertain significance175836014058360146Humanname
38474912CV940421deletionNM_017763.6(RNF43):c.849+3_849+4delnot provided [RCV001204017]uncertain significance175836077958360780Humanname
156122131CV2179526deletionNM_017763.6(RNF43):c.582+2_582+27delnot provided [RCV003039357]uncertain significance175836324858363273Humanname
153302902CV1689999duplicationNM_017763.6(RNF43):c.953-34_953-30dupnot specified [RCV002268899]likely benign175835885258358853Humanname
152035994CV1648363deletionNM_017763.6(RNF43):c.2308+20_2308+21delnot provided [RCV002125331]likely benign175835744758357448Humanname
126732278CV1021668duplicationNM_017763.6(RNF43):c.1976dup (p.Pro660fs)RNF43-related disorder [RCV004754789]|Sessile serrated polyposis cancer syndrome [RCV003470894]|not provided [RCV001861126]|not specified [RCV005271367]pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance175835779958357800Human1name , alternate_id
126728559CV1033441deletionNM_017763.6(RNF43):c.471del (p.Thr158fs)RNF43-related disorder [RCV004731132]|Sessile serrated polyposis cancer syndrome [RCV004570850]|not provided [RCV001348950]|not specified [RCV005271193]uncertain significance175836338658363386Human1name , alternate_id
127278036CV1083316single nucleotide variantNM_017763.6(RNF43):c.319G>A (p.Val107Ile)RNF43-related disorder [RCV003908592]|Sessile serrated polyposis cancer syndrome [RCV002504681]|not provided [RCV001408234]|not specified [RCV002268482]benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance175837096758370967Human1name , alternate_id
127250409CV1105090single nucleotide variantNM_017763.6(RNF43):c.1880T>C (p.Val627Ala)Hyperplastic polyposis syndrome [RCV005361609]|RNF43-related disorder [RCV003946141]|not provided [RCV001436330]|not specified [RCV003321842]likely benign|conflicting interpretations of pathogenicity|uncertain significance175835789658357896Human1alternate_id
127262905CV1105097single nucleotide variantNM_017763.6(RNF43):c.873C>A (p.Leu291=)RNF43-related disorder [RCV003930914]|not provided [RCV001428450]|not specified [RCV002268485]likely benign175836022858360228Human1name , alternate_id
127302454CV1158044single nucleotide variantNM_017763.6(RNF43):c.2268A>G (p.Pro756=)RNF43-related disorder [RCV003956163]|not provided [RCV001515047]|not specified [RCV004857807]benign|likely benign175835750858357508Human1name , alternate_id
127302194CV1158046single nucleotide variantNM_017763.6(RNF43):c.2091C>T (p.His697=)Hyperplastic polyposis syndrome [RCV005369903]|RNF43-related disorder [RCV003940921]|not provided [RCV001514962]|not specified [RCV002268498]benign|likely benign|uncertain significance175835768558357685Human1name , alternate_id
127315776CV1158047single nucleotide variantNM_017763.6(RNF43):c.2057C>G (p.Pro686Arg)RNF43-related disorder [RCV003980587]|Sessile serrated polyposis cancer syndrome [RCV001796548]|not provided [RCV001520148]|not specified [RCV004857808]benign|uncertain significance175835771958357719Human1alternate_id
127307230CV1158050single nucleotide variantNM_017763.6(RNF43):c.1884C>T (p.Asp628=)RNF43-related disorder [RCV003948531]|Sessile serrated polyposis cancer syndrome [RCV005395052]|not provided [RCV001517016]|not specified [RCV004847828]benign|likely benign175835789258357892Human1name , alternate_id
127309452CV1158052single nucleotide variantNM_017763.6(RNF43):c.1821G>A (p.Ser607=)Hyperplastic polyposis syndrome [RCV005361640]|RNF43-related disorder [RCV003966106]|not provided [RCV001517883]|not specified [RCV003493861]benign|likely benign175835795558357955Human1name , alternate_id
127308719CV1158053single nucleotide variantNM_017763.6(RNF43):c.1585C>T (p.Arg529Trp)Hyperplastic polyposis syndrome [RCV005361638]|RNF43-related disorder [RCV003908849]|Sessile serrated polyposis cancer syndrome [RCV002501801]|not provided [RCV001517615]|not specified [RCV002268504]benign|likely benign175835819158358191Human1alternate_id
127298411CV1158058single nucleotide variantNM_017763.6(RNF43):c.1010G>A (p.Arg337Gln)Hyperplastic polyposis syndrome [RCV005361633]|RNF43-related disorder [RCV003931070]|not provided [RCV001513250]|not specified [RCV002268496]benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance175835876658358766Human1alternate_id
127301514CV1158061single nucleotide variantNM_017763.6(RNF43):c.692C>T (p.Pro231Leu)RNF43-related disorder [RCV003983932]|not provided [RCV001514722]|not specified [RCV004857806]benign175836094058360940Human1name , alternate_id
127296376CV1158064single nucleotide variantNM_017763.6(RNF43):c.576G>A (p.Pro192=)Hyperplastic polyposis syndrome [RCV005361632]|RNF43-related disorder [RCV003921087]|not provided [RCV001512495]|not specified [RCV001579672]benign|likely benign175836328158363281Human1name , alternate_id
127309213CV1158065single nucleotide variantNM_017763.6(RNF43):c.575C>T (p.Pro192Leu)Hereditary cancer [RCV003492259]|Hyperplastic polyposis syndrome [RCV005361639]|RNF43-related disorder [RCV003931101]|not provided [RCV001517805]|not specified [RCV002268505]benign|likely benign|uncertain significance175836328258363282Human2name , alternate_id
127321770CV1158066single nucleotide variantNM_017763.6(RNF43):c.380G>A (p.Arg127Gln)Hereditary cancer-predisposing syndrome [RCV005251282]|Hyperplastic polyposis syndrome [RCV005369907]|RNF43-related disorder [RCV003908877]|not provided [RCV001523213]|not specified [RCV003321850]benign|conflicting interpretations of pathogenicity|uncertain significance175836359658363596Human2name , alternate_id
127296910CV1158067single nucleotide variantNM_017763.6(RNF43):c.350G>A (p.Arg117His)RNF43-related disorder [RCV003980503]|not provided [RCV001512683]|not specified [RCV001700765]benign175837093658370936Human12name , alternate_id
152038886CV1642423single nucleotide variantNM_017763.6(RNF43):c.1044T>C (p.His348=)RNF43-related disorder [RCV003913666]|not provided [RCV002107438]|not specified [RCV004857886]likely benign175835873258358732Human1name , alternate_id
405276112CV3199602single nucleotide variantNM_017763.6(RNF43):c.2298G>A (p.Ser766=)RNF43-related disorder [RCV003916993]|not provided [RCV005101716]|not specified [RCV004596612]likely benign175835747858357478Human1name , alternate_id
38500095CV958204single nucleotide variantNM_017763.6(RNF43):c.1190G>A (p.Arg397Gln)RNF43-related disorder [RCV003405447]|not provided [RCV001245499]uncertain significance175835858658358586Human1name , alternate_id
405001106CV3005523single nucleotide variantNM_017763.6(RNF43):c.6T>C (p.Ser2=)not provided [RCV003693185]|not specified [RCV005273813]likely benign175841557258415572Humanname
405246390CV3048078single nucleotide variantNM_017763.6(RNF43):c.24G>A (p.Gln8=)not provided [RCV003720530]|not specified [RCV004857991]likely benign|conflicting interpretations of pathogenicity175841555458415554Humanname
127293532CV1126491single nucleotide variantNM_017763.6(RNF43):c.48G>C (p.Leu16=)not provided [RCV001476613]|not specified [RCV004857801]likely benign175841553058415530Humanname
152133178CV1544824single nucleotide variantNM_017763.6(RNF43):c.84A>C (p.Thr28=)not provided [RCV002177074]likely benign175841549458415494Humanname
156417751CV1920366single nucleotide variantNM_017763.6(RNF43):c.42C>G (p.Pro14=)not provided [RCV002610915]likely benign175841553658415536Humanname
405237433CV3166884single nucleotide variantNM_017763.6(RNF43):c.94C>T (p.Leu32=)not provided [RCV003854138]likely benign175841548458415484Humanname
597931798CV3789502single nucleotide variantNM_017763.6(RNF43):c.72C>T (p.Gly24=)not provided [RCV005131783]likely benign175841550658415506Humanname
598124112CV3881266single nucleotide variantNM_017763.6(RNF43):c.33C>G (p.Ala11=)not specified [RCV005231690]likely benign175841554558415545Humanname
127269286CV1105101single nucleotide variantNM_017763.6(RNF43):c.288C>T (p.Asp96=)not provided [RCV001430239]|not specified [RCV005271263]likely benign175837099858370998Humanname
127267693CV1105102single nucleotide variantNM_017763.6(RNF43):c.105G>A (p.Ala35=)not provided [RCV001429774]|not specified [RCV004847820]likely benign175841547358415473Humanname
127331566CV1147385single nucleotide variantNM_017763.6(RNF43):c.261G>A (p.Pro87=)not provided [RCV001488894]|not specified [RCV004847827]likely benign175837102558371025Humanname
127298424CV1158068single nucleotide variantNM_017763.6(RNF43):c.264G>A (p.Leu88=)not provided [RCV001513255]|not specified [RCV004857805]benign|likely benign175837102258371022Humanname
152078147CV1666013single nucleotide variantNM_017763.6(RNF43):c.180A>G (p.Lys60=)not provided [RCV002092501]likely benign175841539858415398Humanname
156281784CV2042884single nucleotide variantNM_017763.6(RNF43):c.126A>G (p.Ala42=)not provided [RCV002770413]likely benign175841545258415452Humanname
405041231CV3063918single nucleotide variantNM_017763.6(RNF43):c.20T>C (p.Leu7Pro)not provided [RCV003739882]uncertain significance175841555858415558Humanname
405203485CV3165214single nucleotide variantNM_017763.6(RNF43):c.243A>G (p.Lys81=)not provided [RCV003861075]likely benign175841533558415335Humanname
405699092CV3313381single nucleotide variantNM_014771.4(RNF40):c.237G>A (p.Lys79=)not specified [RCV004446757]likely benign163076322230763222Humanname
405699140CV3313390single nucleotide variantNM_005785.4(RNF41):c.16A>G (p.Thr6Ala)not specified [RCV004446766]uncertain significance125621403256214032Humanname
597688317CV3590549single nucleotide variantNM_017763.6(RNF43):c.144C>T (p.Ile48=)not specified [RCV004858589]likely benign175841543458415434Humanname
597858261CV3748248single nucleotide variantNM_017763.6(RNF43):c.255C>T (p.Ser85=)not provided [RCV005067070]|not specified [RCV005269118]likely benign175837103158371031Humanname
597932246CV3837994single nucleotide variantNM_017763.6(RNF43):c.123A>G (p.Ser41=)not provided [RCV005185963]|not specified [RCV005269211]likely benign175841545558415455Humanname
597960400CV3843644single nucleotide variantNM_017763.6(RNF43):c.25C>G (p.Leu9Val)not provided [RCV005192681]uncertain significance175841555358415553Humanname
598205569CV3909699single nucleotide variantNM_017763.6(RNF43):c.123A>T (p.Ser41=)not specified [RCV005269718]likely benign175841545558415455Humanname
598205934CV3909752single nucleotide variantNM_017763.6(RNF43):c.204G>A (p.Val68=)not specified [RCV005269771]likely benign175841537458415374Humanname
598206176CV3909789single nucleotide variantNM_017763.6(RNF43):c.174A>G (p.Thr58=)not specified [RCV005269808]likely benign175841540458415404Humanname
15161579CV703644variationNM_014771.4(RNF40):c.2493= (p.Leu831=)not provided [RCV000947697]benign163076950730769507Humanname
127264988CV1083313single nucleotide variantNM_017763.6(RNF43):c.462G>A (p.Pro154=)not provided [RCV001403458]|not specified [RCV004857796]likely benign175836339558363395Humanname
127248415CV1105098single nucleotide variantNM_017763.6(RNF43):c.756C>T (p.Cys252=)not provided [RCV001424924]|not specified [RCV004857799]likely benign175836087658360876Humanname
127274983CV1105100single nucleotide variantNM_017763.6(RNF43):c.471G>T (p.Leu157=)not provided [RCV001443119]|not specified [RCV004847821]likely benign175836338658363386Humanname
127294391CV1126488single nucleotide variantNM_017763.6(RNF43):c.669C>A (p.Arg223=)not provided [RCV001459414]likely benign175836256258362562Humanname
127303237CV1126489single nucleotide variantNM_017763.6(RNF43):c.576G>C (p.Pro192=)not provided [RCV001461886]|not specified [RCV004596459]likely benign175836328158363281Humanname
127327304CV1126490single nucleotide variantNM_017763.6(RNF43):c.405T>C (p.Ser135=)not provided [RCV001469034]|not specified [RCV005232342]likely benign175836357158363571Humanname
127301942CV1147382single nucleotide variantNM_017763.6(RNF43):c.858G>C (p.Arg286=)not provided [RCV001478828]|not specified [RCV005271310]likely benign175836024358360243Humanname
127312119CV1147383single nucleotide variantNM_017763.6(RNF43):c.837C>T (p.Phe279=)Sessile serrated polyposis cancer syndrome [RCV005395041]|not provided [RCV001501812]|not specified [RCV002268494]likely benign175836079558360795Human1name
127331752CV1147384single nucleotide variantNM_017763.6(RNF43):c.504C>T (p.Asp168=)not provided [RCV001489043]likely benign175836335358363353Humanname
127308618CV1158060single nucleotide variantNM_017763.6(RNF43):c.816T>C (p.Cys272=)Sessile serrated polyposis cancer syndrome [RCV005395053]|not provided [RCV001517562]|not specified [RCV004847829]benign|likely benign175836081658360816Human1name
127303865CV1158063single nucleotide variantNM_017763.6(RNF43):c.597G>A (p.Val199=)Hyperplastic polyposis syndrome [RCV005361635]|not provided [RCV001515656]|not specified [RCV002268499]benign|likely benign175836263458362634Humanname
151862798CV1338798single nucleotide variantNM_017763.6(RNF43):c.86G>C (p.Gly29Ala)not provided [RCV001997352]uncertain significance175841549258415492Humanname
151781677CV1341919single nucleotide variantNM_017763.6(RNF43):c.97G>A (p.Ala33Thr)not provided [RCV001897300]uncertain significance175841548158415481Humanname
151833759CV1396409deletionNM_017763.6(RNF43):c.171del (p.Thr58fs)not provided [RCV001902068]uncertain significance175841540758415407Humanname
151738559CV1469575single nucleotide variantNM_017763.6(RNF43):c.82A>C (p.Thr28Pro)not provided [RCV002041995]|not specified [RCV004847836]uncertain significance175841549658415496Humanname
152103745CV1544587single nucleotide variantNM_017763.6(RNF43):c.792C>T (p.Ser264=)Hyperplastic polyposis syndrome [RCV005370161]|not provided [RCV002115680]benign|likely benign175836084058360840Humanname
152050990CV1569169single nucleotide variantNM_017763.6(RNF43):c.693G>T (p.Pro231=)not provided [RCV002207521]likely benign175836093958360939Humanname
152116400CV1569563single nucleotide variantNM_017763.6(RNF43):c.648G>C (p.Ser216=)not provided [RCV002117249]|not specified [RCV005266180]likely benign175836258358362583Humanname
152129875CV1584384single nucleotide variantNM_017763.6(RNF43):c.693G>A (p.Pro231=)not provided [RCV002082717]|not specified [RCV005266138]likely benign175836093958360939Humanname
152068049CV1588966single nucleotide variantNM_017763.6(RNF43):c.663G>A (p.Arg221=)not provided [RCV002209613]likely benign175836256858362568Humanname
152040181CV1592983single nucleotide variantNM_017763.6(RNF43):c.981A>G (p.Gly327=)not provided [RCV002188140]|not specified [RCV004847892]likely benign175835879558358795Humanname
152087215CV1601164single nucleotide variantNM_017763.6(RNF43):c.483G>A (p.Val161=)not provided [RCV002093653]|not specified [RCV004847896]likely benign|conflicting interpretations of pathogenicity175836337458363374Humanname
152140825CV1609160single nucleotide variantNM_017763.6(RNF43):c.486G>A (p.Val162=)not provided [RCV002200551]likely benign175836337158363371Humanname
152132393CV1621375single nucleotide variantNM_017763.6(RNF43):c.615G>A (p.Val205=)not provided [RCV002218250]|not specified [RCV003493913]likely benign175836261658362616Humanname
152093466CV1625878single nucleotide variantNM_017763.6(RNF43):c.723C>T (p.Ser241=)not provided [RCV002150889]|not specified [RCV005266200]likely benign175836090958360909Humanname
152076244CV1632671single nucleotide variantNM_017763.6(RNF43):c.771T>C (p.Gly257=)not provided [RCV002169952]|not specified [RCV005266141]likely benign175836086158360861Humanname
152039896CV1639939single nucleotide variantNM_017763.6(RNF43):c.669C>T (p.Arg223=)not provided [RCV002087800]|not specified [RCV005266165]likely benign175836256258362562Humanname
156378117CV1906822single nucleotide variantNM_017763.6(RNF43):c.861C>T (p.Val287=)not provided [RCV003093043]|not specified [RCV005266530]likely benign175836024058360240Humanname
156330018CV2342489single nucleotide variantNM_014901.5(RNF44):c.80G>T (p.Gly27Val)not specified [RCV004194087]uncertain significance5176532393176532393Humanname
155924340CV2358131single nucleotide variantNM_014901.5(RNF44):c.80G>A (p.Gly27Asp)not specified [RCV004211937]uncertain significance5176532393176532393Humanname
155984549CV2367958single nucleotide variantNM_005785.4(RNF41):c.94C>T (p.Pro32Ser)not specified [RCV004223050]uncertain significance125621056556210565Humanname
156140730CV2383638single nucleotide variantNM_014901.5(RNF44):c.43G>A (p.Ala15Thr)not specified [RCV004229529]uncertain significance5176532430176532430Humanname
401797874CV2741186single nucleotide variantNM_017763.6(RNF43):c.549T>C (p.His183=)not provided [RCV005102902]|not specified [RCV003322349]likely benign175836330858363308Humanname
401865334CV2778698single nucleotide variantNM_014771.4(RNF40):c.75G>C (p.Glu25Asp)not specified [RCV004346614]uncertain significance163076262030762620Humanname
401935820CV2808071single nucleotide variantNM_017763.6(RNF43):c.579C>T (p.Ala193=)not provided [RCV003413282]|not specified [RCV004857975]likely benign175836327858363278Humanname
401906452CV2808073single nucleotide variantNM_017763.6(RNF43):c.474C>T (p.Thr158=)not provided [RCV003421374]|not specified [RCV005273679]likely benign175836338358363383Humanname
405122417CV2888338single nucleotide variantNM_017763.6(RNF43):c.528G>C (p.Val176=)not provided [RCV003559210]|not specified [RCV005273727]likely benign175836332958363329Humanname
402474586CV2919558single nucleotide variantNM_017763.6(RNF43):c.56C>G (p.Ala19Gly)not provided [RCV003571093]uncertain significance175841552258415522Humanname
405254638CV2978216single nucleotide variantNM_017763.6(RNF43):c.433C>A (p.Arg145=)not provided [RCV003723103]likely benign175836354358363543Humanname
405082190CV3046818single nucleotide variantNM_017763.6(RNF43):c.879G>A (p.Glu293=)not provided [RCV003717220]likely benign175836022258360222Humanname
405252336CV3047157single nucleotide variantNM_017763.6(RNF43):c.633G>A (p.Val211=)not provided [RCV003722173]|not specified [RCV005273843]likely benign175836259858362598Humanname
405177399CV3049624single nucleotide variantNM_017763.6(RNF43):c.703A>C (p.Arg235=)not provided [RCV003728463]|not specified [RCV005273854]likely benign175836092958360929Humanname
405244772CV3050588single nucleotide variantNM_017763.6(RNF43):c.543G>A (p.Lys181=)not provided [RCV003719972]|not specified [RCV005273842]likely benign175836331458363314Humanname
405228848CV3065985single nucleotide variantNM_017763.6(RNF43):c.726G>A (p.Gln242=)not provided [RCV003734541]|not specified [RCV005273868]likely benign175836090658360906Humanname
405190266CV3069791single nucleotide variantNM_017763.6(RNF43):c.774G>A (p.Glu258=)not provided [RCV003729654]|not specified [RCV004847990]likely benign|uncertain significance175836085858360858Humanname
405871317CV3399354single nucleotide variantNM_017763.6(RNF43):c.66G>C (p.Gln22His)Sessile serrated polyposis cancer syndrome [RCV004574785]uncertain significance175841551258415512Human1name
407508809CV3479773single nucleotide variantNM_005785.4(RNF41):c.31G>A (p.Asp11Asn)not specified [RCV004672162]uncertain significance125621401756214017Humanname
597654462CV3551641deletionNM_017763.6(RNF43):c.256del (p.His86fs)Sessile serrated polyposis cancer syndrome [RCV004820354]pathogenic175837103058371030Human1name
597755371CV3590504single nucleotide variantNM_017763.6(RNF43):c.669C>G (p.Arg223=)Hereditary cancer-predisposing syndrome [RCV005251421]|not specified [RCV004847598]likely benign175836256258362562Human1name
597755375CV3590507single nucleotide variantNM_017763.6(RNF43):c.525T>C (p.Phe175=)not specified [RCV004847599]likely benign175836333258363332Humanname
597755379CV3590509single nucleotide variantNM_017763.6(RNF43):c.783C>T (p.Asp261=)not specified [RCV004847600]likely benign175836084958360849Humanname
597688190CV3590523single nucleotide variantNM_017763.6(RNF43):c.852G>A (p.Glu284=)not specified [RCV004858575]likely benign175836024958360249Humanname
597755411CV3590530single nucleotide variantNM_017763.6(RNF43):c.420C>T (p.Asp140=)not specified [RCV004847608]likely benign175836355658363556Humanname
597688354CV3590556single nucleotide variantNM_017763.6(RNF43):c.990A>G (p.Arg330=)not specified [RCV004858593]likely benign175835878658358786Humanname
597958102CV3755253single nucleotide variantNM_017763.6(RNF43):c.516G>A (p.Leu172=)not provided [RCV005080923]likely benign175836334158363341Humanname
597959388CV3843375single nucleotide variantNM_017763.6(RNF43):c.717C>T (p.Ala239=)not provided [RCV005192409]likely benign175836091558360915Humanname
597959610CV3843412single nucleotide variantNM_017763.6(RNF43):c.711C>T (p.Ala237=)not provided [RCV005192446]likely benign175836092158360921Humanname
598205581CV3909701single nucleotide variantNM_017763.6(RNF43):c.999A>G (p.Gln333=)not specified [RCV005269720]likely benign175835877758358777Humanname
598205677CV3909713single nucleotide variantNM_017763.6(RNF43):c.318C>T (p.Ile106=)not specified [RCV005269732]likely benign175837096858370968Humanname
598205803CV3909732single nucleotide variantNM_017763.6(RNF43):c.53T>G (p.Met18Arg)not specified [RCV005269751]uncertain significance175841552558415525Humanname
598205854CV3909739single nucleotide variantNM_017763.6(RNF43):c.648G>A (p.Ser216=)not specified [RCV005269758]likely benign175836258358362583Humanname
598205880CV3909743single nucleotide variantNM_017763.6(RNF43):c.321C>T (p.Val107=)not specified [RCV005269762]likely benign175837096558370965Humanname
598205892CV3909745single nucleotide variantNM_017763.6(RNF43):c.345C>T (p.Ala115=)not specified [RCV005269764]likely benign175837094158370941Humanname
598205898CV3909746single nucleotide variantNM_017763.6(RNF43):c.990A>C (p.Arg330=)not specified [RCV005269765]likely benign175835878658358786Humanname
598205966CV3909757single nucleotide variantNM_017763.6(RNF43):c.801C>T (p.Ser267=)not specified [RCV005269776]likely benign175836083158360831Humanname
598205972CV3909758single nucleotide variantNM_017763.6(RNF43):c.789G>A (p.Gly263=)not specified [RCV005269777]likely benign175836084358360843Humanname
598206115CV3909780single nucleotide variantNM_017763.6(RNF43):c.537C>T (p.Asn179=)not specified [RCV005269799]likely benign175836332058363320Humanname
598206287CV3909807single nucleotide variantNM_017763.6(RNF43):c.930C>G (p.Pro310=)not specified [RCV005269826]likely benign175836017158360171Humanname
598206299CV3909809single nucleotide variantNM_017763.6(RNF43):c.933C>T (p.Leu311=)not specified [RCV005269828]likely benign175836016858360168Humanname
598206323CV3909813single nucleotide variantNM_017763.6(RNF43):c.984C>T (p.Pro328=)not specified [RCV005269832]likely benign175835879258358792Humanname
598206329CV3909814single nucleotide variantNM_017763.6(RNF43):c.507T>A (p.Ala169=)not specified [RCV005269833]likely benign175836335058363350Humanname
598206350CV3909817single nucleotide variantNM_017763.6(RNF43):c.465G>A (p.Leu155=)not specified [RCV005269836]likely benign175836339258363392Humanname
598206368CV3909820single nucleotide variantNM_017763.6(RNF43):c.888T>C (p.Arg296=)not specified [RCV005269839]likely benign175836021358360213Humanname
15147089CV713641single nucleotide variantNM_005785.4(RNF41):c.447C>T (p.Ile149=)not provided [RCV000967271]benign125620821456208214Humanname
15104217CV769226single nucleotide variantNM_005785.4(RNF41):c.720T>C (p.Ala240=)not provided [RCV000937344]likely benign125620668156206681Humanname
26897292CV845679single nucleotide variantNM_017763.6(RNF43):c.687G>A (p.Pro229=)Sessile serrated polyposis cancer syndrome [RCV005394712]|not provided [RCV001065526]uncertain significance175836254458362544Human1name
38466591CV938050single nucleotide variantNM_017763.6(RNF43):c.387G>A (p.Ala129=)not provided [RCV001201885]|not specified [RCV004857763]likely benign|uncertain significance175836358958363589Humanname
38482952CV950066single nucleotide variantNM_017763.6(RNF43):c.59C>T (p.Thr20Ile)not provided [RCV001235726]uncertain significance175841551958415519Humanname
38487199CV950067single nucleotide variantNM_017763.6(RNF43):c.58A>G (p.Thr20Ala)Sessile serrated polyposis cancer syndrome [RCV005029813]|not provided [RCV001237473]|not specified [RCV005269008]likely benign|uncertain significance175841552058415520Human1name
126733662CV997703single nucleotide variantNM_017763.6(RNF43):c.80G>A (p.Arg27His)Sessile serrated polyposis cancer syndrome [RCV003469512]|not provided [RCV001294784]|not specified [RCV004857774]uncertain significance175841549858415498Human1name
126758706CV997704single nucleotide variantNM_017763.6(RNF43):c.79C>T (p.Arg27Cys)Sessile serrated polyposis cancer syndrome [RCV003469522]|not provided [RCV001299270]|not specified [RCV004036131]uncertain significance175841549958415499Human1name
126739185CV1012904single nucleotide variantNM_017763.6(RNF43):c.124G>T (p.Ala42Ser)not provided [RCV001325015]uncertain significance175841545458415454Humanname
127272941CV1083307single nucleotide variantNM_017763.6(RNF43):c.2313A>C (p.Ser771=)not provided [RCV001405846]likely benign175835498258354982Humanname
127280463CV1083308single nucleotide variantNM_017763.6(RNF43):c.2226G>A (p.Glu742=)not provided [RCV001409787]|not specified [RCV005271245]likely benign175835755058357550Humanname
127266018CV1083309single nucleotide variantNM_017763.6(RNF43):c.1983C>T (p.Ser661=)not provided [RCV001403736]|not specified [RCV004857797]likely benign175835779358357793Humanname
127256440CV1083310single nucleotide variantNM_017763.6(RNF43):c.1320C>T (p.Pro440=)not provided [RCV001401254]|not specified [RCV005271237]likely benign175835845658358456Humanname
127236583CV1105089single nucleotide variantNM_017763.6(RNF43):c.2346T>C (p.Ala782=)not provided [RCV001433371]likely benign175835494958354949Humanname
127253076CV1105091single nucleotide variantNM_017763.6(RNF43):c.1761C>T (p.Pro587=)not provided [RCV001436943]|not specified [RCV005271270]likely benign175835801558358015Humanname
127240553CV1105092single nucleotide variantNM_017763.6(RNF43):c.1719C>T (p.Thr573=)not provided [RCV001423363]|not specified [RCV004857798]likely benign175835805758358057Humanname
127265029CV1105093single nucleotide variantNM_017763.6(RNF43):c.1467G>A (p.Gly489=)not provided [RCV001428977]|not specified [RCV005271262]likely benign175835830958358309Humanname
127277018CV1105094single nucleotide variantNM_017763.6(RNF43):c.1311G>C (p.Arg437=)not provided [RCV001444151]|not specified [RCV003493856]likely benign175835846558358465Humanname
127276791CV1105095single nucleotide variantNM_017763.6(RNF43):c.1167C>A (p.Arg389=)not provided [RCV001432960]|not specified [RCV005271266]likely benign175835860958358609Humanname
127247573CV1105096single nucleotide variantNM_017763.6(RNF43):c.1071C>T (p.Tyr357=)not provided [RCV001435650]likely benign175835870558358705Humanname
127332474CV1126476single nucleotide variantNM_017763.6(RNF43):c.2277T>C (p.Tyr759=)not provided [RCV001472234]likely benign175835749958357499Humanname
127328190CV1126477single nucleotide variantNM_017763.6(RNF43):c.2205G>T (p.Leu735=)not provided [RCV001469467]|not specified [RCV004847824]likely benign175835757158357571Humanname
127333746CV1126478single nucleotide variantNM_017763.6(RNF43):c.2154T>C (p.Cys718=)not provided [RCV001473114]likely benign175835762258357622Humanname
127311638CV1126480single nucleotide variantNM_017763.6(RNF43):c.1878A>T (p.Pro626=)not provided [RCV001464199]likely benign175835789858357898Humanname
127301662CV1126481single nucleotide variantNM_017763.6(RNF43):c.1806C>T (p.Asn602=)not provided [RCV001461452]|not specified [RCV005271292]likely benign175835797058357970Humanname
127315421CV1126485single nucleotide variantNM_017763.6(RNF43):c.1521C>T (p.Pro507=)not provided [RCV001457977]likely benign175835825558358255Humanname
127337465CV1126486single nucleotide variantNM_017763.6(RNF43):c.1317G>A (p.Arg439=)not provided [RCV001475690]|not specified [RCV004847826]likely benign|conflicting interpretations of pathogenicity175835845958358459Humanname
127295931CV1126487single nucleotide variantNM_017763.6(RNF43):c.1254G>A (p.Leu418=)not provided [RCV001452640]|not specified [RCV004857800]likely benign175835852258358522Humanname
127299454CV1147378single nucleotide variantNM_017763.6(RNF43):c.1953C>T (p.His651=)not provided [RCV001498302]likely benign175835782358357823Humanname
127294489CV1147379single nucleotide variantNM_017763.6(RNF43):c.1527G>A (p.Val509=)not provided [RCV001496993]|not specified [RCV005271329]likely benign175835824958358249Humanname
127332306CV1147380single nucleotide variantNM_017763.6(RNF43):c.1017C>G (p.Leu339=)not provided [RCV001489413]|not specified [RCV004857802]likely benign175835875958358759Humanname
127302323CV1147381single nucleotide variantNM_017763.6(RNF43):c.1014A>G (p.Arg338=)not provided [RCV001478915]likely benign175835876258358762Humanname
127299117CV1158043single nucleotide variantNM_017763.6(RNF43):c.2280G>A (p.Pro760=)Sessile serrated polyposis cancer syndrome [RCV005395047]|not provided [RCV001513559]|not specified [RCV001579514]benign|likely benign175835749658357496Human1name
127318433CV1158054single nucleotide variantNM_017763.6(RNF43):c.1302C>T (p.Pro434=)Sessile serrated polyposis cancer syndrome [RCV005395057]|not provided [RCV001521644]|not specified [RCV003321849]benign|likely benign175835847458358474Human1name
127308641CV1158055single nucleotide variantNM_017763.6(RNF43):c.1131A>T (p.Pro377=)not provided [RCV001517570]|not specified [RCV004847830]benign|likely benign175835864558358645Humanname
150554992CV1309982single nucleotide variantNM_017763.6(RNF43):c.146G>A (p.Arg49Lys)not provided [RCV003237991]uncertain significance175841543258415432Humanname
151810737CV1350265single nucleotide variantNM_017763.6(RNF43):c.125C>A (p.Ala42Glu)not provided [RCV002048831]uncertain significance175841545358415453Humanname
151781333CV1357871single nucleotide variantNM_017763.6(RNF43):c.247A>G (p.Met83Val)Sessile serrated polyposis cancer syndrome [RCV004571530]|not provided [RCV001875384]|not specified [RCV005271454]uncertain significance175841533158415331Human1name
151737608CV1432694single nucleotide variantNM_017763.6(RNF43):c.1605G>A (p.Ser535=)not provided [RCV001984901]|not specified [RCV003493894]likely benign|uncertain significance175835817158358171Humanname
151793065CV1467582single nucleotide variantNM_017763.6(RNF43):c.163A>G (p.Met55Val)not provided [RCV001931604]|not specified [RCV003321883]uncertain significance175841541558415415Humanname
152167229CV1524602single nucleotide variantNM_017763.6(RNF43):c.1914T>C (p.Ser638=)not provided [RCV002142108]likely benign175835786258357862Humanname
152126897CV1533888single nucleotide variantNM_017763.6(RNF43):c.1185T>C (p.His395=)not provided [RCV002136432]|not specified [RCV004847899]likely benign175835859158358591Humanname
152030677CV1534330single nucleotide variantNM_017763.6(RNF43):c.1860T>C (p.Pro620=)not provided [RCV002086196]likely benign175835791658357916Humanname
152063870CV1554514single nucleotide variantNM_017763.6(RNF43):c.2160A>T (p.Ser720=)not provided [RCV002190871]likely benign175835761658357616Humanname
152124866CV1565441single nucleotide variantNM_017763.6(RNF43):c.1272C>T (p.Thr424=)not provided [RCV002136186]likely benign175835850458358504Humanname
152131209CV1567968single nucleotide variantNM_017763.6(RNF43):c.1968G>A (p.Arg656=)not provided [RCV002218097]likely benign175835780858357808Humanname
152029953CV1568774single nucleotide variantNM_017763.6(RNF43):c.2325C>T (p.Leu775=)not provided [RCV002186328]|not specified [RCV005266213]likely benign175835497058354970Humanname
152031428CV1571623single nucleotide variantNM_017763.6(RNF43):c.1641T>C (p.His547=)not provided [RCV002186693]|not specified [RCV005266146]likely benign175835813558358135Humanname
152167603CV1600835single nucleotide variantNM_017763.6(RNF43):c.2351G>A (p.Ter784=)not provided [RCV002160909]|not specified [RCV005266206]likely benign175835494458354944Humanname
152098992CV1627176single nucleotide variantNM_017763.6(RNF43):c.1303C>T (p.Leu435=)not provided [RCV002095257]|not specified [RCV005266171]likely benign175835847358358473Humanname
152141019CV1628870single nucleotide variantNM_017763.6(RNF43):c.2253C>T (p.Thr751=)not provided [RCV002100779]|not specified [RCV004847897]likely benign175835752358357523Humanname
152115780CV1637249single nucleotide variantNM_017763.6(RNF43):c.1023C>T (p.Leu341=)not provided [RCV002216110]likely benign175835875358358753Humanname
152029214CV1653092single nucleotide variantNM_017763.6(RNF43):c.1029C>T (p.Arg343=)Hyperplastic polyposis syndrome [RCV005361954]|not provided [RCV002085726]|not specified [RCV005266166]likely benign175835874758358747Humanname
152056614CV1656430single nucleotide variantNM_017763.6(RNF43):c.1902C>G (p.Pro634=)not provided [RCV002109624]|not specified [RCV002268613]likely benign175835787458357874Humanname
152144872CV1658223single nucleotide variantNM_017763.6(RNF43):c.1020C>T (p.His340=)not provided [RCV002219883]|not specified [RCV004847893]likely benign175835875658358756Humanname
152981798CV1677090single nucleotide variantNM_017763.6(RNF43):c.185A>G (p.Asn62Ser)Sessile serrated polyposis cancer syndrome [RCV003471297]|not provided [RCV004812438]|not specified [RCV002248159]uncertain significance175841539358415393Human1name
153302896CV1689996single nucleotide variantNM_017763.6(RNF43):c.2082A>G (p.Pro694=)not specified [RCV002268896]likely benign175835769458357694Humanname
155683570CV1776822single nucleotide variantNM_017763.6(RNF43):c.122C>T (p.Ser41Leu)not provided [RCV002298358]uncertain significance175841545658415456Humanname
156364795CV1897256single nucleotide variantNM_017763.6(RNF43):c.1536C>T (p.Ser512=)not provided [RCV002581984]|not specified [RCV004857949]likely benign175835824058358240Humanname
156021328CV1899201single nucleotide variantNM_017763.6(RNF43):c.1221A>T (p.Gly407=)not provided [RCV003100211]likely benign175835855558358555Humanname
156275444CV1900204single nucleotide variantNM_017763.6(RNF43):c.1803C>A (p.Ser601=)not provided [RCV003086935]|not specified [RCV005266538]likely benign175835797358357973Humanname
156413322CV1904832single nucleotide variantNM_017763.6(RNF43):c.197A>G (p.Glu66Gly)Sessile serrated polyposis cancer syndrome [RCV004572786]|not provided [RCV002588127]|not specified [RCV005266545]uncertain significance175841538158415381Human1name
156333255CV1905742single nucleotide variantNM_017763.6(RNF43):c.2007C>T (p.Pro669=)not provided [RCV003089921]|not specified [RCV005266526]likely benign175835776958357769Humanname
156018141CV1909259single nucleotide variantNM_017763.6(RNF43):c.1293C>T (p.Cys431=)not provided [RCV002619254]likely benign175835848358358483Humanname
156200063CV1916711single nucleotide variantNM_017763.6(RNF43):c.293A>G (p.Asn98Ser)not provided [RCV002595671]uncertain significance175837099358370993Humanname
156418555CV1922319single nucleotide variantNM_017763.6(RNF43):c.1680G>A (p.Lys560=)not provided [RCV002611753]|not specified [RCV004857951]likely benign175835809658358096Humanname
156435802CV1937154single nucleotide variantNM_017763.6(RNF43):c.2262C>T (p.Gly754=)Sessile serrated polyposis cancer syndrome [RCV005021789]|not provided [RCV003105025]uncertain significance175835751458357514Human1name
156435803CV1937155single nucleotide variantNM_017763.6(RNF43):c.1935C>G (p.Ser645=)not provided [RCV003105026]likely benign175835784158357841Humanname
156392076CV2005773single nucleotide variantNM_017763.6(RNF43):c.175G>A (p.Gly59Arg)Sessile serrated polyposis cancer syndrome [RCV004571201]|not provided [RCV002680865]uncertain significance175841540358415403Human1name
155952902CV2014116single nucleotide variantNM_017763.6(RNF43):c.1431C>T (p.Asp477=)not provided [RCV002686115]likely benign175835834558358345Humanname
156376065CV2024715single nucleotide variantNM_017763.6(RNF43):c.1111C>A (p.Arg371=)not provided [RCV002721928]likely benign175835866558358665Humanname
156313868CV2031762single nucleotide variantNM_017763.6(RNF43):c.1555C>A (p.Arg519=)not provided [RCV002716691]likely benign175835822158358221Humanname
156234192CV2036292single nucleotide variantNM_017763.6(RNF43):c.278C>A (p.Ala93Asp)not provided [RCV002805433]uncertain significance175837100858371008Humanname
156124435CV2040032single nucleotide variantNM_017763.6(RNF43):c.1227G>A (p.Gln409=)not provided [RCV002785919]likely benign175835854958358549Humanname
156175376CV2053550single nucleotide variantNM_017763.6(RNF43):c.2124G>A (p.Lys708=)not provided [RCV002802082]likely benign175835765258357652Humanname
156307712CV2115694single nucleotide variantNM_017763.6(RNF43):c.1857C>T (p.Leu619=)not provided [RCV002922900]likely benign175835791958357919Humanname
156308301CV2249492single nucleotide variantNM_014901.5(RNF44):c.190C>T (p.His64Tyr)not specified [RCV004120535]uncertain significance5176532111176532111Humanname
156309516CV2249646single nucleotide variantNM_014901.5(RNF44):c.154C>T (p.Arg52Cys)not specified [RCV004120649]uncertain significance5176532147176532147Humanname
155988226CV2285334single nucleotide variantNM_014901.5(RNF44):c.145C>T (p.Arg49Trp)not specified [RCV004139210]uncertain significance5176532156176532156Humanname
156210840CV2309839single nucleotide variantNM_014771.4(RNF40):c.218T>A (p.Leu73His)not specified [RCV004160951]uncertain significance163076320330763203Humanname
156281683CV2348797single nucleotide variantNM_005785.4(RNF41):c.277G>A (p.Val93Ile)not specified [RCV004203243]uncertain significance125621038256210382Humanname
156124180CV2350087single nucleotide variantNM_014901.5(RNF44):c.196C>T (p.Pro66Ser)not specified [RCV004200012]uncertain significance5176532105176532105Humanname
156262069CV2376891single nucleotide variantNM_014901.5(RNF44):c.208C>T (p.Arg70Cys)not specified [RCV004229588]uncertain significance5176532093176532093Humanname
155906464CV2379030single nucleotide variantNM_014901.5(RNF44):c.218C>T (p.Ser73Leu)not specified [RCV004233790]uncertain significance5176532083176532083Humanname
401781603CV2682054single nucleotide variantNM_014901.5(RNF44):c.199G>A (p.Val67Ile)not specified [RCV004290119]uncertain significance5176532102176532102Humanname
401774018CV2702536single nucleotide variantNM_014901.5(RNF44):c.233G>A (p.Gly78Glu)not specified [RCV004317030]uncertain significance5176532068176532068Humanname
401784020CV2720960single nucleotide variantNM_014901.5(RNF44):c.217T>G (p.Ser73Ala)not specified [RCV004328268]uncertain significance5176532084176532084Humanname
401864561CV2777888single nucleotide variantNM_014901.5(RNF44):c.212G>A (p.Arg71Gln)not specified [RCV004347858]uncertain significance5176532089176532089Humanname
401914449CV2808070single nucleotide variantNM_017763.6(RNF43):c.1017C>T (p.Leu339=)not provided [RCV003428346]likely benign175835875958358759Humanname
401948188CV2833418single nucleotide variantNM_017763.6(RNF43):c.106G>A (p.Val36Met)Sessile serrated polyposis cancer syndrome [RCV003471864]uncertain significance175841547258415472Human1name
401948374CV2833428deletionNM_017763.6(RNF43):c.575del (p.Pro192fs)Sessile serrated polyposis cancer syndrome [RCV003471874]uncertain significance175836328258363282Human1name
401948363CV2833432single nucleotide variantNM_017763.6(RNF43):c.103G>A (p.Ala35Thr)Sessile serrated polyposis cancer syndrome [RCV003471878]|not provided [RCV004721196]|not specified [RCV005273697]uncertain significance175841547558415475Human1name
401948205CV2833448single nucleotide variantNM_017763.6(RNF43):c.100G>A (p.Ala34Thr)Sessile serrated polyposis cancer syndrome [RCV003471894]uncertain significance175841547858415478Human1name
405006674CV2853008single nucleotide variantNM_017763.6(RNF43):c.2034C>T (p.Cys678=)not specified [RCV003494202]likely benign175835774258357742Humanname
405020523CV2866327single nucleotide variantNM_017763.6(RNF43):c.2088A>G (p.Ala696=)not provided [RCV003577534]likely benign175835768858357688Humanname
405204100CV2986143single nucleotide variantNM_017763.6(RNF43):c.2334G>C (p.Leu778=)not provided [RCV003678450]likely benign175835496158354961Humanname
402486804CV2998952single nucleotide variantNM_017763.6(RNF43):c.194T>G (p.Leu65Trp)not provided [RCV003687067]uncertain significance175841538458415384Humanname
405246029CV3051631single nucleotide variantNM_017763.6(RNF43):c.169C>T (p.Pro57Ser)not provided [RCV003720358]uncertain significance175841540958415409Humanname
405245684CV3051651single nucleotide variantNM_017763.6(RNF43):c.2286C>T (p.Cys762=)not provided [RCV003720372]|not specified [RCV005273849]likely benign175835749058357490Humanname
405245180CV3054973single nucleotide variantNM_017763.6(RNF43):c.1203G>A (p.Glu401=)not provided [RCV003720217]likely benign175835857358358573Humanname
405217902CV3055808single nucleotide variantNM_017763.6(RNF43):c.1374G>T (p.Leu458=)not provided [RCV003732794]likely benign175835840258358402Humanname
405199949CV3056750single nucleotide variantNM_017763.6(RNF43):c.1626C>G (p.Thr542=)not provided [RCV003730675]likely benign175835815058358150Humanname
405179032CV3060334single nucleotide variantNM_017763.6(RNF43):c.143T>A (p.Ile48Asn)not provided [RCV003728603]|not specified [RCV005273858]uncertain significance175841543558415435Humanname
405194937CV3062931single nucleotide variantNM_017763.6(RNF43):c.1038C>T (p.Pro346=)not provided [RCV003730085]|not specified [RCV004857999]likely benign175835873858358738Humanname
405226420CV3068473single nucleotide variantNM_017763.6(RNF43):c.121T>A (p.Ser41Thr)Sessile serrated polyposis cancer syndrome [RCV004573269]|not provided [RCV003734034]uncertain significance175841545758415457Human1name
405200975CV3143501single nucleotide variantNM_017763.6(RNF43):c.142A>G (p.Ile48Val)not provided [RCV003844487]uncertain significance175841543658415436Humanname
405222436CV3154933single nucleotide variantNM_017763.6(RNF43):c.2343G>A (p.Gln781=)not provided [RCV003847429]likely benign175835495258354952Humanname
405153411CV3163078single nucleotide variantNM_017763.6(RNF43):c.1560G>A (p.Val520=)not provided [RCV003856521]likely benign175835821658358216Humanname
405252909CV3178140single nucleotide variantNM_017763.6(RNF43):c.2184C>T (p.Cys728=)not provided [RCV003870920]likely benign175835759258357592Humanname
402495542CV3183104single nucleotide variantNM_017763.6(RNF43):c.1983C>A (p.Ser661=)not provided [RCV003877412]|not specified [RCV005274006]likely benign175835779358357793Humanname
405699083CV3313379single nucleotide variantNM_014771.4(RNF40):c.158A>G (p.Gln53Arg)not specified [RCV004446755]uncertain significance163076314330763143Humanname
405699589CV3313400single nucleotide variantNM_014901.5(RNF44):c.149A>G (p.Asp50Gly)not specified [RCV004446776]uncertain significance5176532152176532152Humanname
405699580CV3313402single nucleotide variantNM_014901.5(RNF44):c.209G>A (p.Arg70His)not specified [RCV004446778]likely benign5176532092176532092Humanname
405699571CV3313403single nucleotide variantNM_014901.5(RNF44):c.277A>G (p.Met93Val)not specified [RCV004446779]uncertain significance5176532024176532024Humanname
405871307CV3399348single nucleotide variantNM_017763.6(RNF43):c.200G>A (p.Gly67Asp)Sessile serrated polyposis cancer syndrome [RCV004574779]uncertain significance175841537858415378Human1name
405871315CV3399353single nucleotide variantNM_017763.6(RNF43):c.107T>C (p.Val36Ala)Sessile serrated polyposis cancer syndrome [RCV004574784]uncertain significance175841547158415471Human1name
407455927CV3415781single nucleotide variantNM_017763.6(RNF43):c.1809A>C (p.Ser603=)not provided [RCV004598657]likely benign175835796758357967Humanname
407508799CV3479768single nucleotide variantNM_014771.4(RNF40):c.184C>T (p.Arg62Trp)not specified [RCV004672159]uncertain significance163076316930763169Humanname
407513476CV3479778single nucleotide variantNM_014901.5(RNF44):c.182G>A (p.Arg61Gln)not specified [RCV004674137]uncertain significance5176532119176532119Humanname
408381130CV3501825single nucleotide variantNM_017763.6(RNF43):c.271T>C (p.Cys91Arg)not provided [RCV004729353]uncertain significance175837101558371015Humanname
408386923CV3518612single nucleotide variantNM_017763.6(RNF43):c.1681C>A (p.Arg561=)not provided [RCV004760930]|not specified [RCV004848017]likely benign|uncertain significance175835809558358095Humanname
597688120CV3590512single nucleotide variantNM_017763.6(RNF43):c.1296A>G (p.Pro432=)not specified [RCV004858568]likely benign175835848058358480Humanname
597688172CV3590519single nucleotide variantNM_017763.6(RNF43):c.1848C>T (p.Pro616=)not specified [RCV004858573]likely benign175835792858357928Humanname
597688200CV3590524single nucleotide variantNM_017763.6(RNF43):c.1752G>A (p.Arg584=)not specified [RCV004858576]likely benign175835802458358024Humanname
597688211CV3590527single nucleotide variantNM_017763.6(RNF43):c.2211A>G (p.Pro737=)not specified [RCV004858577]likely benign175835756558357565Humanname
597755420CV3590538single nucleotide variantNM_017763.6(RNF43):c.104C>T (p.Ala35Val)Sessile serrated polyposis cancer syndrome [RCV005392909]|not specified [RCV004847610]uncertain significance175841547458415474Human1name
597755436CV3590544single nucleotide variantNM_017763.6(RNF43):c.2151C>T (p.Pro717=)not specified [RCV004847614]likely benign175835762558357625Humanname
597755440CV3590545single nucleotide variantNM_017763.6(RNF43):c.1101T>C (p.Ala367=)not specified [RCV004847615]likely benign175835867558358675Humanname
597688300CV3590546single nucleotide variantNM_017763.6(RNF43):c.109G>A (p.Glu37Lys)not specified [RCV004858587]uncertain significance175841546958415469Humanname
597755456CV3590554single nucleotide variantNM_017763.6(RNF43):c.1824G>T (p.Gly608=)not specified [RCV004847619]likely benign175835795258357952Humanname
597755464CV3590558single nucleotide variantNM_017763.6(RNF43):c.2175G>A (p.Val725=)not specified [RCV004847621]likely benign175835760158357601Humanname
597688363CV3590559single nucleotide variantNM_017763.6(RNF43):c.1998C>G (p.Gly666=)not specified [RCV004858594]likely benign175835777858357778Humanname
597688421CV3590570single nucleotide variantNM_014901.5(RNF44):c.193C>T (p.Leu65Phe)not specified [RCV004858600]uncertain significance5176532108176532108Humanname
597755487CV3590571single nucleotide variantNM_014901.5(RNF44):c.238C>T (p.Pro80Ser)not specified [RCV004847627]uncertain significance5176532063176532063Humanname
597688431CV3590572single nucleotide variantNM_014901.5(RNF44):c.207G>T (p.Glu69Asp)not specified [RCV004858601]uncertain significance5176532094176532094Humanname
597669150CV3732805single nucleotide variantNM_017763.6(RNF43):c.168C>A (p.Asp56Glu)not provided [RCV005004637]uncertain significance175841541058415410Humanname
597870461CV3749884single nucleotide variantNM_017763.6(RNF43):c.1215G>A (p.Leu405=)not provided [RCV005068565]|not specified [RCV005269129]likely benign175835856158358561Humanname
597858166CV3755808single nucleotide variantNM_017763.6(RNF43):c.2094C>A (p.Pro698=)not provided [RCV005088959]|not specified [RCV005269144]likely benign175835768258357682Humanname
597961811CV3795270deletionNM_017763.6(RNF43):c.999del (p.Glu334fs)not provided [RCV005138962]uncertain significance175835877758358777Humanname
597884136CV3799564single nucleotide variantNM_017763.6(RNF43):c.1173C>T (p.Pro391=)not provided [RCV005150231]likely benign175835860358358603Humanname
597875340CV3813104single nucleotide variantNM_017763.6(RNF43):c.291C>A (p.Asp97Glu)not provided [RCV005149040]uncertain significance175837099558370995Humanname
597908624CV3829938single nucleotide variantNM_017763.6(RNF43):c.1239A>T (p.Ala413=)not provided [RCV005182507]likely benign175835853758358537Humanname
597934697CV3845098single nucleotide variantNM_017763.6(RNF43):c.1305A>G (p.Leu435=)not provided [RCV005186411]likely benign175835847158358471Humanname
597906034CV3853215single nucleotide variantNM_017763.6(RNF43):c.1794C>T (p.Val598=)not provided [RCV005202872]likely benign175835798258357982Humanname
597966432CV3859107single nucleotide variantNM_017763.6(RNF43):c.2283C>T (p.His761=)not provided [RCV005194502]likely benign175835749358357493Humanname
598202684CV3896526single nucleotide variantNM_017763.6(RNF43):c.260C>T (p.Pro87Leu)Hyperplastic polyposis syndrome [RCV005356755]|not specified [RCV005269254]uncertain significance175837102658371026Humanname
12896182CV390363single nucleotide variantNM_017763.6(RNF43):c.139A>G (p.Ile47Val)Hereditary cancer-predisposing syndrome [RCV003482144]|not provided [RCV001523214]|not specified [RCV000455001]benign175841543958415439Human1name
598205553CV3909697single nucleotide variantNM_017763.6(RNF43):c.1200A>G (p.Gly400=)not specified [RCV005269716]likely benign175835857658358576Humanname
598205619CV3909706single nucleotide variantNM_017763.6(RNF43):c.1252C>T (p.Leu418=)not specified [RCV005269725]likely benign175835852458358524Humanname
598205643CV3909709single nucleotide variantNM_017763.6(RNF43):c.2262C>A (p.Gly754=)not specified [RCV005269728]likely benign175835751458357514Humanname
598205667CV3909712single nucleotide variantNM_017763.6(RNF43):c.1851G>A (p.Arg617=)not specified [RCV005269731]likely benign175835792558357925Humanname
598205708CV3909717single nucleotide variantNM_017763.6(RNF43):c.1167C>T (p.Arg389=)not specified [RCV005269736]likely benign175835860958358609Humanname
598205713CV3909718single nucleotide variantNM_017763.6(RNF43):c.1827G>A (p.Arg609=)not specified [RCV005269737]likely benign175835794958357949Humanname
598205868CV3909741single nucleotide variantNM_017763.6(RNF43):c.276T>G (p.Asn92Lys)not specified [RCV005269760]uncertain significance175837101058371010Humanname
598205885CV3909744single nucleotide variantNM_017763.6(RNF43):c.199G>T (p.Gly67Cys)not specified [RCV005269763]uncertain significance175841537958415379Humanname
598205921CV3909750single nucleotide variantNM_017763.6(RNF43):c.145A>G (p.Arg49Gly)not specified [RCV005269769]uncertain significance175841543358415433Humanname
598205953CV3909755single nucleotide variantNM_017763.6(RNF43):c.1635C>T (p.Ser545=)not specified [RCV005269774]likely benign175835814158358141Humanname
598205959CV3909756single nucleotide variantNM_017763.6(RNF43):c.2202C>G (p.Pro734=)not specified [RCV005269775]likely benign175835757458357574Humanname
598205990CV3909761single nucleotide variantNM_017763.6(RNF43):c.131A>G (p.Gln44Arg)not specified [RCV005269780]uncertain significance175841544758415447Humanname
598205997CV3909762single nucleotide variantNM_017763.6(RNF43):c.1665C>T (p.His555=)not specified [RCV005269781]likely benign175835811158358111Humanname
598206010CV3909764single nucleotide variantNM_017763.6(RNF43):c.1836C>T (p.Asn612=)not specified [RCV005269783]likely benign175835794058357940Humanname
598206041CV3909769single nucleotide variantNM_017763.6(RNF43):c.1941C>T (p.Leu647=)not specified [RCV005269788]likely benign175835783558357835Humanname
598206063CV3909772single nucleotide variantNM_017763.6(RNF43):c.1668C>T (p.His556=)not specified [RCV005269791]likely benign175835810858358108Humanname
598206157CV3909786single nucleotide variantNM_017763.6(RNF43):c.2127G>A (p.Arg709=)not specified [RCV005269805]likely benign175835764958357649Humanname
598206169CV3909788single nucleotide variantNM_017763.6(RNF43):c.2319G>A (p.Glu773=)not specified [RCV005269807]likely benign175835497658354976Humanname
598206182CV3909790single nucleotide variantNM_017763.6(RNF43):c.235G>A (p.Glu79Lys)not specified [RCV005269809]uncertain significance175841534358415343Humanname
598206227CV3909797single nucleotide variantNM_017763.6(RNF43):c.170C>G (p.Pro57Arg)not specified [RCV005269816]uncertain significance175841540858415408Humanname
598206239CV3909799single nucleotide variantNM_017763.6(RNF43):c.2142C>T (p.Thr714=)not specified [RCV005269818]likely benign175835763458357634Humanname
598206245CV3909800single nucleotide variantNM_017763.6(RNF43):c.2148C>T (p.Gly716=)not specified [RCV005269819]likely benign175835762858357628Humanname
598206263CV3909803single nucleotide variantNM_017763.6(RNF43):c.1518C>T (p.Asp506=)not specified [RCV005269822]likely benign175835825858358258Humanname
598206305CV3909810single nucleotide variantNM_017763.6(RNF43):c.1260C>T (p.His420=)not specified [RCV005269829]likely benign175835851658358516Humanname
598206335CV3909815single nucleotide variantNM_017763.6(RNF43):c.283G>A (p.Asp95Asn)not specified [RCV005269834]uncertain significance175837100358371003Humanname
598206364CV3909819single nucleotide variantNM_017763.6(RNF43):c.1825C>A (p.Arg609=)not specified [RCV005269838]likely benign175835795158357951Humanname
598206402CV3909826single nucleotide variantNM_014901.5(RNF44):c.155G>A (p.Arg52His)not specified [RCV005269845]uncertain significance5176532146176532146Humanname
598206421CV3909829single nucleotide variantNM_014901.5(RNF44):c.257C>T (p.Ala86Val)not specified [RCV005269848]uncertain significance5176532044176532044Humanname
598176822CV4008193single nucleotide variantNM_017763.6(RNF43):c.1452C>T (p.Asp484=)Sessile serrated polyposis cancer syndrome [RCV005393709]likely benign175835832458358324Human1name
15102919CV721382single nucleotide variantNM_014901.5(RNF44):c.1125G>A (p.Ser375=)not provided [RCV000892574]benign5176529534176529534Humanname
15163394CV726602single nucleotide variantNM_014771.4(RNF40):c.2784C>T (p.Tyr928=)not provided [RCV000881961]benign163077214530772145Humanname
15203192CV755131single nucleotide variantNM_014771.4(RNF40):c.1281C>T (p.Ile427=)not provided [RCV000913775]likely benign163076654630766546Humanname
26918949CV845675single nucleotide variantNM_017763.6(RNF43):c.1449G>A (p.Thr483=)not provided [RCV001044589]|not specified [RCV004847771]likely benign|uncertain significance175835832758358327Humanname
26895453CV845683single nucleotide variantNM_017763.6(RNF43):c.259C>G (p.Pro87Ala)not provided [RCV001064030]uncertain significance175837102758371027Humanname
38485598CV938051single nucleotide variantNM_017763.6(RNF43):c.172A>G (p.Thr58Ala)Sessile serrated polyposis cancer syndrome [RCV003469345]|not provided [RCV001208547]|not specified [RCV002268452]uncertain significance175841540658415406Human1name
38496020CV950063deletionNM_017763.6(RNF43):c.350del (p.Arg117fs)not provided [RCV001226110]uncertain significance175837093658370936Humanname
38478775CV950065single nucleotide variantNM_017763.6(RNF43):c.289G>A (p.Asp97Asn)Sessile serrated polyposis cancer syndrome [RCV004570587]|not provided [RCV001234038]|not specified [RCV005268996]likely benign|uncertain significance175837099758370997Human1name
126744921CV997702single nucleotide variantNM_017763.6(RNF43):c.172A>T (p.Thr58Ser)Sessile serrated polyposis cancer syndrome [RCV004570714]|not provided [RCV001305908]|not specified [RCV005271133]likely benign|uncertain significance175841540658415406Human1name
126743611CV1012898single nucleotide variantNM_017763.6(RNF43):c.772G>A (p.Glu258Lys)not provided [RCV001314823]uncertain significance175836086058360860Humanname
126769031CV1012899single nucleotide variantNM_017763.6(RNF43):c.686C>T (p.Pro229Leu)Sessile serrated polyposis cancer syndrome [RCV003469547]|not provided [RCV001321714]|not specified [RCV005271159]likely benign|uncertain significance175836254558362545Human1name
126773262CV1012900single nucleotide variantNM_017763.6(RNF43):c.661C>T (p.Arg221Trp)not provided [RCV001324226]|not specified [RCV005271165]uncertain significance175836257058362570Humanname
126768664CV1012901single nucleotide variantNM_017763.6(RNF43):c.544G>T (p.Ala182Ser)not provided [RCV001321494]uncertain significance175836331358363313Humanname
126734433CV1012902single nucleotide variantNM_017763.6(RNF43):c.505G>T (p.Ala169Ser)Sessile serrated polyposis cancer syndrome [RCV004570740]|not provided [RCV001313569]|not specified [RCV004034290]uncertain significance175836335258363352Human1name
126749010CV1012903single nucleotide variantNM_017763.6(RNF43):c.301C>G (p.Pro101Ala)not provided [RCV001326450]uncertain significance175837098558370985Humanname
126766529CV1033437single nucleotide variantNM_017763.6(RNF43):c.985T>C (p.Ser329Pro)Sessile serrated polyposis cancer syndrome [RCV003469573]|not provided [RCV001342463]uncertain significance175835879158358791Human1name
126747348CV1033438single nucleotide variantNM_017763.6(RNF43):c.938T>C (p.Met313Thr)not provided [RCV001351658]uncertain significance175836016358360163Humanname
126770765CV1033439single nucleotide variantNM_017763.6(RNF43):c.787G>A (p.Gly263Arg)Sessile serrated polyposis cancer syndrome [RCV003469576]|not provided [RCV001344659]|not specified [RCV005271186]likely benign|uncertain significance175836084558360845Human1name
126751969CV1033440single nucleotide variantNM_017763.6(RNF43):c.671C>G (p.Pro224Arg)Sessile serrated polyposis cancer syndrome [RCV004570807]|not provided [RCV001338344]|not specified [RCV004847807]uncertain significance175836256058362560Human1name
126910060CV1050428single nucleotide variantNM_017763.6(RNF43):c.647C>T (p.Ser216Leu)not provided [RCV001368753]uncertain significance175836258458362584Humanname
126917060CV1050429single nucleotide variantNM_017763.6(RNF43):c.505G>A (p.Ala169Thr)not provided [RCV001360944]uncertain significance175836335258363352Humanname
126922643CV1050430single nucleotide variantNM_017763.6(RNF43):c.377C>T (p.Ala126Val)Sessile serrated polyposis cancer syndrome [RCV003469602]|not provided [RCV001364912]|not specified [RCV005271211]uncertain significance175836359958363599Human1name
127235456CV1083314single nucleotide variantNM_017763.6(RNF43):c.434G>A (p.Arg145Gln)Sessile serrated polyposis cancer syndrome [RCV005395010]|not provided [RCV001396680]|not specified [RCV002465872]likely benign|conflicting interpretations of pathogenicity|uncertain significance175836354258363542Human1name
127256477CV1105099single nucleotide variantNM_017763.6(RNF43):c.674G>A (p.Arg225His)Hyperplastic polyposis syndrome [RCV005361610]|not provided [RCV001437697]|not specified [RCV001820132]likely benign|conflicting interpretations of pathogenicity|uncertain significance175836255758362557Humanname
127316955CV1158062single nucleotide variantNM_017763.6(RNF43):c.662G>A (p.Arg221Gln)Sessile serrated polyposis cancer syndrome [RCV005395056]|not provided [RCV001520796]|not specified [RCV001729936]benign175836256958362569Human1name
150554990CV1309980deletionNM_017763.6(RNF43):c.1976del (p.Gly659fs)not provided [RCV003237989]likely pathogenic175835780058357800Humanname
151356448CV1329212single nucleotide variantNM_017763.6(RNF43):c.407C>T (p.Ala136Val)not specified [RCV001822801]uncertain significance175836356958363569Humanname
151883398CV1337847single nucleotide variantNM_017763.6(RNF43):c.425C>T (p.Thr142Ile)not provided [RCV001962119]uncertain significance175836355158363551Humanname
151863179CV1338892single nucleotide variantNM_017763.6(RNF43):c.340C>T (p.Arg114Trp)Sessile serrated polyposis cancer syndrome [RCV003471105]|not provided [RCV001997401]|not specified [RCV004857856]uncertain significance175837094658370946Human1name
151861764CV1364975single nucleotide variantNM_017763.6(RNF43):c.915G>C (p.Gln305His)not provided [RCV002017838]uncertain significance175836018658360186Humanname
151813491CV1366308single nucleotide variantNM_017763.6(RNF43):c.856C>T (p.Arg286Trp)not provided [RCV001933437]uncertain significance175836024558360245Humanname
151871481CV1384258single nucleotide variantNM_017763.6(RNF43):c.673C>T (p.Arg225Cys)Sessile serrated polyposis cancer syndrome [RCV003471097]|not provided [RCV001960484]uncertain significance175836255858362558Human1name
151763011CV1384301single nucleotide variantNM_017763.6(RNF43):c.928C>T (p.Pro310Ser)not provided [RCV001987494]|not specified [RCV005271563]uncertain significance175836017358360173Humanname
151734433CV1393115deletionNM_017763.6(RNF43):c.1322del (p.Pro441fs)not provided [RCV001967446]uncertain significance175835845458358454Humanname
151720352CV1396615single nucleotide variantNM_017763.6(RNF43):c.499A>G (p.Asn167Asp)not provided [RCV001890997]uncertain significance175836335858363358Humanname
151730148CV1412951single nucleotide variantNM_017763.6(RNF43):c.857G>A (p.Arg286Gln)Sessile serrated polyposis cancer syndrome [RCV003471108]|not provided [RCV002004685]uncertain significance175836024458360244Human1name
151798822CV1430558single nucleotide variantNM_017763.6(RNF43):c.379C>T (p.Arg127Trp)not provided [RCV001877185]|not specified [RCV005271434]uncertain significance175836359758363597Humanname
151743538CV1431199single nucleotide variantNM_017763.6(RNF43):c.914A>G (p.Gln305Arg)Sessile serrated polyposis cancer syndrome [RCV003471014]|not provided [RCV001893515]|not specified [RCV005271474]uncertain significance175836018758360187Human1name
151863982CV1431484single nucleotide variantNM_017763.6(RNF43):c.592G>T (p.Asp198Tyr)not provided [RCV001924374]uncertain significance175836263958362639Humanname
151769583CV1441990single nucleotide variantNM_017763.6(RNF43):c.300G>T (p.Glu100Asp)not provided [RCV002025224]uncertain significance175837098658370986Humanname
151802424CV1442398single nucleotide variantNM_017763.6(RNF43):c.748G>A (p.Ala250Thr)not provided [RCV002011696]uncertain significance175836088458360884Humanname
151865197CV1443124duplicationNM_017763.6(RNF43):c.2058dup (p.Ser687fs)not provided [RCV002034967]uncertain significance175835771758357718Humanname
151768909CV1450878single nucleotide variantNM_017763.6(RNF43):c.443C>G (p.Ala148Gly)Sessile serrated polyposis cancer syndrome [RCV003471068]|not provided [RCV001929326]|not specified [RCV005271527]uncertain significance175836353358363533Human1name
151753515CV1471129single nucleotide variantNM_017763.6(RNF43):c.559G>A (p.Glu187Lys)not provided [RCV001948388]|not specified [RCV004041958]uncertain significance175836329858363298Humanname
151757809CV1475230single nucleotide variantNM_017763.6(RNF43):c.548A>G (p.His183Arg)Sessile serrated polyposis cancer syndrome [RCV003471092]|not provided [RCV001969844]uncertain significance175836330958363309Human1name
151866011CV1484412single nucleotide variantNM_017763.6(RNF43):c.791G>A (p.Ser264Asn)not provided [RCV001959833]|not specified [RCV004847868]uncertain significance175836084158360841Humanname
151817075CV1485795single nucleotide variantNM_017763.6(RNF43):c.508G>A (p.Glu170Lys)not provided [RCV002029525]|not specified [RCV004857877]likely benign|uncertain significance175836334958363349Humanname
151769769CV1486727single nucleotide variantNM_017763.6(RNF43):c.317T>G (p.Ile106Ser)not provided [RCV001914870]|not specified [RCV005271447]uncertain significance175837096958370969Humanname
151735717CV1494437single nucleotide variantNM_017763.6(RNF43):c.503A>G (p.Asp168Gly)not provided [RCV001984687]|not specified [RCV002268586]uncertain significance175836335458363354Humanname
151757036CV1497049single nucleotide variantNM_017763.6(RNF43):c.989G>A (p.Arg330Gln)Sessile serrated polyposis cancer syndrome [RCV004571594]|not provided [RCV001913554]|not specified [RCV005271497]likely benign|uncertain significance175835878758358787Human1name
151810071CV1497175single nucleotide variantNM_017763.6(RNF43):c.905G>A (p.Trp302Ter)not provided [RCV001974683]uncertain significance175836019658360196Humanname
151846854CV1507761single nucleotide variantNM_017763.6(RNF43):c.920G>T (p.Arg307Leu)not provided [RCV001978396]uncertain significance175836018158360181Humanname
152027535CV1628849single nucleotide variantNM_017763.6(RNF43):c.811G>C (p.Val271Leu)Hyperplastic polyposis syndrome [RCV005361958]|Sessile serrated polyposis cancer syndrome [RCV004572047]|not provided [RCV002104925]likely benign|uncertain significance175836082158360821Human1name
153302914CV1690005single nucleotide variantNM_017763.6(RNF43):c.301C>T (p.Pro101Ser)not specified [RCV002268905]uncertain significance175837098558370985Humanname
10044804CV188056single nucleotide variantNM_017763.6(RNF43):c.394C>T (p.Arg132Ter)Colon serrated polyposis [RCV000170445]|Sessile serrated polyposis cancer syndrome [RCV000240616]pathogenic175836358258363582Human2name
156404271CV1898178single nucleotide variantNM_017763.6(RNF43):c.656G>A (p.Arg219His)Sessile serrated polyposis cancer syndrome [RCV003465970]|not provided [RCV002585367]uncertain significance175836257558362575Human1name
156031562CV1899695single nucleotide variantNM_017763.6(RNF43):c.920G>A (p.Arg307Gln)Sessile serrated polyposis cancer syndrome [RCV004572784]|not provided [RCV003084948]|not specified [RCV004073252]uncertain significance175836018158360181Human1name
155960067CV1900315single nucleotide variantNM_017763.6(RNF43):c.668G>A (p.Arg223His)Sessile serrated polyposis cancer syndrome [RCV003465967]|not provided [RCV003095799]|not specified [RCV004073311]uncertain significance175836256358362563Human1name
156029414CV1910515single nucleotide variantNM_017763.6(RNF43):c.767G>A (p.Arg256Gln)not provided [RCV002619782]|not specified [RCV004661578]likely benign|uncertain significance175836086558360865Humanname
156213428CV1914162single nucleotide variantNM_017763.6(RNF43):c.455A>G (p.Gln152Arg)Sessile serrated polyposis cancer syndrome [RCV004572796]|not provided [RCV002596157]|not specified [RCV005266567]uncertain significance175836340258363402Human1name
156418881CV1918903single nucleotide variantNM_017763.6(RNF43):c.970C>T (p.Gln324Ter)not provided [RCV002612091]uncertain significance175835880658358806Humanname
156368827CV1919928single nucleotide variantNM_017763.6(RNF43):c.461C>T (p.Pro154Leu)not provided [RCV002603019]uncertain significance175836339658363396Humanname
156436500CV1943132single nucleotide variantNM_017763.6(RNF43):c.466G>A (p.Gly156Arg)Sessile serrated polyposis cancer syndrome [RCV003466014]|not provided [RCV003105541]uncertain significance175836339158363391Human1name
156434011CV1946732single nucleotide variantNM_017763.6(RNF43):c.433C>T (p.Arg145Ter)not provided [RCV003104192]uncertain significance175836354358363543Humanname
156411842CV1973742single nucleotide variantNM_017763.6(RNF43):c.684G>T (p.Arg228Ser)not provided [RCV002608367]uncertain significance175836254758362547Humanname
156304605CV2013650single nucleotide variantNM_017763.6(RNF43):c.730G>A (p.Ala244Thr)Sessile serrated polyposis cancer syndrome [RCV003465819]|not provided [RCV002716217]uncertain significance175836090258360902Human1name
156297040CV2017113single nucleotide variantNM_017763.6(RNF43):c.377C>G (p.Ala126Gly)not provided [RCV002715888]uncertain significance175836359958363599Humanname
156092541CV2030677single nucleotide variantNM_017763.6(RNF43):c.778C>A (p.Pro260Thr)not provided [RCV002761002]uncertain significance175836085458360854Humanname
156237278CV2036701single nucleotide variantNM_017763.6(RNF43):c.802T>C (p.Ser268Pro)not provided [RCV002805544]|not specified [RCV005266395]uncertain significance175836083058360830Humanname
156021162CV2040640single nucleotide variantNM_017763.6(RNF43):c.500A>G (p.Asn167Ser)not provided [RCV002795593]|not specified [RCV004064787]uncertain significance175836335758363357Humanname
156075473CV2056735single nucleotide variantNM_017763.6(RNF43):c.673C>A (p.Arg225Ser)not provided [RCV002823683]uncertain significance175836255858362558Humanname
156143090CV2123870single nucleotide variantNM_017763.6(RNF43):c.965T>A (p.Phe322Tyr)not provided [RCV002982385]uncertain significance175835881158358811Humanname
155914523CV2149687deletionNM_017763.6(RNF43):c.1517del (p.Asp506fs)not provided [RCV003012504]uncertain significance175835825958358259Humanname
156356126CV2165921single nucleotide variantNM_017763.6(RNF43):c.859G>A (p.Val287Ile)not provided [RCV003031245]uncertain significance175836024258360242Humanname
156327453CV2184489single nucleotide variantNM_017763.6(RNF43):c.578C>T (p.Ala193Val)Sessile serrated polyposis cancer syndrome [RCV003465908]|not provided [RCV003047013]uncertain significance175836327958363279Human1name
156127507CV2283797single nucleotide variantNM_017763.6(RNF43):c.763G>T (p.Ala255Ser)not specified [RCV004142316]uncertain significance175836086958360869Humanname
156199137CV2293767single nucleotide variantNM_005785.4(RNF41):c.582T>G (p.Ile194Met)not specified [RCV004155049]uncertain significance125620766656207666Humanname
156048692CV2304447single nucleotide variantNM_014771.4(RNF40):c.380C>T (p.Thr127Ile)not specified [RCV004164542]uncertain significance163076349730763497Humanname
156268135CV2305731single nucleotide variantNM_014901.5(RNF44):c.797G>A (p.Gly266Asp)not specified [RCV004167548]uncertain significance5176530586176530586Humanname
156350594CV2316233single nucleotide variantNM_014771.4(RNF40):c.614G>A (p.Arg205Gln)not specified [RCV004174267]likely benign163076435030764350Humanname
156294435CV2321410single nucleotide variantNM_014901.5(RNF44):c.835A>G (p.Thr279Ala)not specified [RCV004177399]uncertain significance5176530173176530173Humanname
156258632CV2322161single nucleotide variantNM_014901.5(RNF44):c.819G>A (p.Met273Ile)not specified [RCV004175943]uncertain significance5176530189176530189Humanname
156359059CV2328132single nucleotide variantNM_014901.5(RNF44):c.872C>T (p.Pro291Leu)not specified [RCV004173240]uncertain significance5176530136176530136Humanname
156152727CV2328455single nucleotide variantNM_017763.6(RNF43):c.538C>G (p.Gln180Glu)Sessile serrated polyposis cancer syndrome [RCV003466006]|not provided [RCV003730317]|not specified [RCV004175840]uncertain significance175836331958363319Human1name
156337892CV2343115single nucleotide variantNM_005785.4(RNF41):c.353A>G (p.Gln118Arg)not specified [RCV004192707]uncertain significance125621030656210306Humanname
156347399CV2349610single nucleotide variantNM_014901.5(RNF44):c.650G>A (p.Arg217Gln)not specified [RCV004204033]uncertain significance5176530733176530733Humanname
156386364CV2364727single nucleotide variantNM_014901.5(RNF44):c.769G>A (p.Asp257Asn)not specified [RCV004219603]uncertain significance5176530614176530614Humanname
156176164CV2374428single nucleotide variantNM_014771.4(RNF40):c.635G>A (p.Arg212Gln)not specified [RCV004231941]uncertain significance163076437130764371Humanname
156228172CV2392895single nucleotide variantNM_014771.4(RNF40):c.692G>A (p.Arg231Gln)not specified [RCV004247245]uncertain significance163076498030764980Humanname
156168453CV2399147single nucleotide variantNM_014771.4(RNF40):c.647G>A (p.Arg216Gln)not specified [RCV004246579]uncertain significance163076438330764383Humanname
243062461CV2404905single nucleotide variantNM_017763.6(RNF43):c.800G>A (p.Ser267Asn)Lynch syndrome 1 [RCV003140454]uncertain significance175836083258360832Humanname
329390535CV2437034single nucleotide variantNM_014901.5(RNF44):c.532A>G (p.Ser178Gly)not specified [RCV004262847]uncertain significance5176530955176530955Humanname
329357666CV2453736single nucleotide variantNM_014901.5(RNF44):c.572C>A (p.Pro191His)not specified [RCV004269371]likely benign5176530915176530915Humanname
329395842CV2454642single nucleotide variantNM_014771.4(RNF40):c.734C>T (p.Thr245Ile)not specified [RCV004268101]uncertain significance163076502230765022Humanname
11542223CV248607single nucleotide variantNM_017763.6(RNF43):c.337C>T (p.Arg113Ter)Sessile serrated polyposis cancer syndrome [RCV000240610]|not provided [RCV001854937]pathogenic|conflicting interpretations of pathogenicity|uncertain significance175837094958370949Human1name
401752234CV2682749single nucleotide variantNM_014901.5(RNF44):c.664G>A (p.Val222Met)not specified [RCV004281724]uncertain significance5176530719176530719Humanname
401735737CV2695388single nucleotide variantNM_005785.4(RNF41):c.733G>A (p.Glu245Lys)not specified [RCV004305593]uncertain significance125620666856206668Humanname
401719292CV2701032single nucleotide variantNM_014771.4(RNF40):c.456G>C (p.Met152Ile)not specified [RCV004309637]uncertain significance163076419230764192Humanname
401722781CV2703500single nucleotide variantNM_017763.6(RNF43):c.887G>C (p.Arg296Pro)not specified [RCV004317681]uncertain significance175836021458360214Humanname
401899911CV2765600single nucleotide variantNM_014771.4(RNF40):c.613C>T (p.Arg205Trp)not specified [RCV004335613]uncertain significance163076434930764349Humanname
401869635CV2772470single nucleotide variantNM_014901.5(RNF44):c.373C>G (p.Gln125Glu)not specified [RCV004355251]uncertain significance5176531555176531555Humanname
401867715CV2780835single nucleotide variantNM_014901.5(RNF44):c.316C>T (p.Pro106Ser)not specified [RCV004352153]uncertain significance5176531612176531612Humanname
401916610CV2808072single nucleotide variantNM_017763.6(RNF43):c.518T>G (p.Met173Arg)Sessile serrated polyposis cancer syndrome [RCV004572975]|not provided [RCV003429143]uncertain significance175836333958363339Human1name
401948184CV2833416single nucleotide variantNM_017763.6(RNF43):c.731C>A (p.Ala244Asp)Sessile serrated polyposis cancer syndrome [RCV003471862]uncertain significance175836090158360901Human1name
401948391CV2833422single nucleotide variantNM_017763.6(RNF43):c.714G>A (p.Trp238Ter)Sessile serrated polyposis cancer syndrome [RCV003471868]uncertain significance175836091858360918Human1name
401948386CV2833424single nucleotide variantNM_017763.6(RNF43):c.626T>C (p.Ile209Thr)Sessile serrated polyposis cancer syndrome [RCV003471870]uncertain significance175836260558362605Human1name
401948377CV2833427single nucleotide variantNM_017763.6(RNF43):c.721A>G (p.Ser241Gly)Sessile serrated polyposis cancer syndrome [RCV003471873]|not specified [RCV004847970]uncertain significance175836091158360911Human1name
401948368CV2833430single nucleotide variantNM_017763.6(RNF43):c.344C>T (p.Ala115Val)Sessile serrated polyposis cancer syndrome [RCV003471876]|not provided [RCV003720926]|not specified [RCV005273696]uncertain significance175837094258370942Human1name
401948351CV2833436single nucleotide variantNM_017763.6(RNF43):c.563T>C (p.Leu188Pro)Sessile serrated polyposis cancer syndrome [RCV003471882]uncertain significance175836329458363294Human1name
401948241CV2833444single nucleotide variantNM_017763.6(RNF43):c.820A>C (p.Ile274Leu)Sessile serrated polyposis cancer syndrome [RCV003471890]uncertain significance175836081258360812Human1name
401948196CV2833445single nucleotide variantNM_017763.6(RNF43):c.937A>G (p.Met313Val)Sessile serrated polyposis cancer syndrome [RCV003471891]uncertain significance175836016458360164Human1name
401948202CV2833447single nucleotide variantNM_017763.6(RNF43):c.779C>G (p.Pro260Arg)Sessile serrated polyposis cancer syndrome [RCV003471893]|not provided [RCV003779102]|not specified [RCV005273700]uncertain significance175836085358360853Human1name
401948212CV2833451single nucleotide variantNM_017763.6(RNF43):c.364C>G (p.Leu122Val)Sessile serrated polyposis cancer syndrome [RCV003471897]uncertain significance175837092258370922Human1name
401948214CV2833452single nucleotide variantNM_017763.6(RNF43):c.472A>G (p.Thr158Ala)Sessile serrated polyposis cancer syndrome [RCV003471898]uncertain significance175836338558363385Human1name
405006691CV2853010single nucleotide variantNM_017763.6(RNF43):c.783C>G (p.Asp261Glu)Hyperplastic polyposis syndrome [RCV005356458]|not specified [RCV003494204]uncertain significance175836084958360849Humanname
405039759CV2929917single nucleotide variantNM_017763.6(RNF43):c.977T>C (p.Leu326Pro)not provided [RCV003579010]uncertain significance175835879958358799Humanname
405235315CV2972557single nucleotide variantNM_017763.6(RNF43):c.514C>A (p.Leu172Met)not provided [RCV003682919]uncertain significance175836334358363343Humanname
405233963CV2975359single nucleotide variantNM_017763.6(RNF43):c.929C>T (p.Pro310Leu)not provided [RCV003682634]uncertain significance175836017258360172Humanname
405191976CV2984914single nucleotide variantNM_017763.6(RNF43):c.334C>T (p.Pro112Ser)not provided [RCV003706548]uncertain significance175837095258370952Humanname
405132674CV3021979single nucleotide variantNM_017763.6(RNF43):c.314G>A (p.Ser105Asn)not provided [RCV003701812]uncertain significance175837097258370972Humanname
405048739CV3025365deletionNM_017763.6(RNF43):c.1109del (p.Pro370fs)not provided [RCV003696850]uncertain significance175835866758358667Humanname
405252001CV3046361single nucleotide variantNM_017763.6(RNF43):c.959A>G (p.Asp320Gly)not provided [RCV003722055]uncertain significance175835881758358817Humanname
405134776CV3051962single nucleotide variantNM_017763.6(RNF43):c.809C>T (p.Pro270Leu)not provided [RCV003725140]uncertain significance175836082358360823Humanname
405127401CV3053698single nucleotide variantNM_017763.6(RNF43):c.356G>A (p.Cys119Tyr)not provided [RCV003724504]uncertain significance175837093058370930Humanname
405254140CV3055039single nucleotide variantNM_017763.6(RNF43):c.656G>T (p.Arg219Leu)not provided [RCV003722869]uncertain significance175836257558362575Humanname
405208413CV3065413single nucleotide variantNM_017763.6(RNF43):c.886C>T (p.Arg296Cys)Sessile serrated polyposis cancer syndrome [RCV004573270]|not provided [RCV003731644]|not specified [RCV005273865]uncertain significance175836021558360215Human1name
405228702CV3065909single nucleotide variantNM_017763.6(RNF43):c.869G>A (p.Cys290Tyr)not provided [RCV003734515]uncertain significance175836023258360232Humanname
405227185CV3069523single nucleotide variantNM_017763.6(RNF43):c.737G>C (p.Arg246Thr)not provided [RCV003734254]|not specified [RCV004857996]uncertain significance175836089558360895Humanname
405171005CV3122529single nucleotide variantNM_017763.6(RNF43):c.636C>G (p.Ile212Met)Sessile serrated polyposis cancer syndrome [RCV005014986]|not provided [RCV003819118]|not specified [RCV004847992]uncertain significance175836259558362595Human1name
405745571CV3226272deletionNM_017763.6(RNF43):c.1995del (p.Gly666fs)Sessile serrated polyposis cancer syndrome [RCV003991263]pathogenic175835778158357781Human1name
405699525CV3309518single nucleotide variantNM_014901.5(RNF44):c.637A>T (p.Met213Leu)not specified [RCV004446786]uncertain significance5176530850176530850Humanname
405699519CV3309519single nucleotide variantNM_014901.5(RNF44):c.649C>T (p.Arg217Trp)not specified [RCV004446787]uncertain significance5176530734176530734Humanname
405699514CV3309520single nucleotide variantNM_014901.5(RNF44):c.740C>T (p.Pro247Leu)not specified [RCV004446788]uncertain significance5176530643176530643Humanname
405699125CV3313387single nucleotide variantNM_014771.4(RNF40):c.391C>T (p.Pro131Ser)not specified [RCV004446763]uncertain significance163076350830763508Humanname
405699131CV3313388single nucleotide variantNM_014771.4(RNF40):c.647G>C (p.Arg216Pro)not specified [RCV004446764]uncertain significance163076438330764383Humanname
405699146CV3313391single nucleotide variantNM_005785.4(RNF41):c.718G>C (p.Ala240Pro)not specified [RCV004446767]uncertain significance125620668356206683Humanname
405699620CV3313395single nucleotide variantNM_017763.6(RNF43):c.325C>G (p.Leu109Val)not specified [RCV004446771]uncertain significance175837096158370961Humanname
405699613CV3313396single nucleotide variantNM_017763.6(RNF43):c.766C>G (p.Arg256Gly)not specified [RCV004446772]uncertain significance175836086658360866Humanname
405699565CV3313404single nucleotide variantNM_014901.5(RNF44):c.307G>A (p.Gly103Arg)not specified [RCV004446780]uncertain significance5176531621176531621Humanname
405699551CV3313406single nucleotide variantNM_014901.5(RNF44):c.394G>A (p.Ala132Thr)not specified [RCV004446782]uncertain significance5176531534176531534Humanname
405699541CV3313407single nucleotide variantNM_014901.5(RNF44):c.512C>T (p.Ala171Val)not specified [RCV004446783]uncertain significance5176530975176530975Humanname
405699536CV3313408single nucleotide variantNM_014901.5(RNF44):c.542A>T (p.Tyr181Phe)not specified [RCV004446784]uncertain significance5176530945176530945Humanname
405699530CV3313409single nucleotide variantNM_014901.5(RNF44):c.595C>T (p.Pro199Ser)not specified [RCV004446785]uncertain significance5176530892176530892Humanname
405871293CV3399339single nucleotide variantNM_017763.6(RNF43):c.467G>C (p.Gly156Ala)Sessile serrated polyposis cancer syndrome [RCV004574770]uncertain significance175836339058363390Human1name
405871304CV3399346single nucleotide variantNM_017763.6(RNF43):c.571C>A (p.Pro191Thr)Sessile serrated polyposis cancer syndrome [RCV004574777]uncertain significance175836328658363286Human1name
405871314CV3399352single nucleotide variantNM_017763.6(RNF43):c.962C>T (p.Ser321Leu)Sessile serrated polyposis cancer syndrome [RCV004574783]uncertain significance175835881458358814Human1name
405871325CV3399360single nucleotide variantNM_017763.6(RNF43):c.658A>C (p.Ile220Leu)Sessile serrated polyposis cancer syndrome [RCV004574791]uncertain significance175836257358362573Human1name
407457837CV3416233single nucleotide variantNM_017763.6(RNF43):c.809C>G (p.Pro270Arg)not provided [RCV004599111]uncertain significance175836082358360823Humanname
407486863CV3479775single nucleotide variantNM_017763.6(RNF43):c.907T>A (p.Leu303Ile)not specified [RCV004665532]uncertain significance175836019458360194Humanname
407486869CV3479776single nucleotide variantNM_014901.5(RNF44):c.643C>T (p.Leu215Phe)not specified [RCV004665533]uncertain significance5176530740176530740Humanname
407486874CV3479777single nucleotide variantNM_014901.5(RNF44):c.329C>T (p.Thr110Met)not specified [RCV004665534]uncertain significance5176531599176531599Humanname
408381472CV3501909single nucleotide variantNM_017763.6(RNF43):c.346C>T (p.Pro116Ser)not provided [RCV004729437]uncertain significance175837094058370940Humanname
408382090CV3502104single nucleotide variantNM_017763.6(RNF43):c.608T>C (p.Met203Thr)not provided [RCV004729632]uncertain significance175836262358362623Humanname
408373895CV3502363single nucleotide variantNM_017763.6(RNF43):c.605T>C (p.Leu202Pro)not provided [RCV004725950]|not specified [RCV005274055]uncertain significance175836262658362626Humanname
408391386CV3527979single nucleotide variantNM_017763.6(RNF43):c.341G>A (p.Arg114Gln)not provided [RCV004775251]uncertain significance175837094558370945Humanname
408392246CV3528054single nucleotide variantNM_017763.6(RNF43):c.344C>A (p.Ala115Asp)not provided [RCV004775822]|not specified [RCV005269058]uncertain significance175837094258370942Humanname
408385721CV3528648single nucleotide variantNM_017763.6(RNF43):c.452T>C (p.Leu151Pro)not provided [RCV004772481]uncertain significance175836340558363405Humanname
408388698CV3529054single nucleotide variantNM_017763.6(RNF43):c.584C>T (p.Pro195Leu)Sessile serrated polyposis cancer syndrome [RCV005023704]|not provided [RCV004773876]uncertain significance175836264758362647Human1name
596925896CV3530619single nucleotide variantNM_017763.6(RNF43):c.982C>T (p.Pro328Ser)not provided [RCV004778204]uncertain significance175835879458358794Humanname
596929170CV3530988single nucleotide variantNM_017763.6(RNF43):c.347C>T (p.Pro116Leu)not provided [RCV004779562]uncertain significance175837093958370939Humanname
596922460CV3537237single nucleotide variantNM_017763.6(RNF43):c.325C>A (p.Leu109Met)not provided [RCV004786233]uncertain significance175837096158370961Humanname
597687954CV3590479single nucleotide variantNM_014771.4(RNF40):c.548G>A (p.Gly183Asp)not specified [RCV004858550]uncertain significance163076428430764284Humanname
597687971CV3590481single nucleotide variantNM_014771.4(RNF40):c.703C>G (p.Arg235Gly)not specified [RCV004858552]uncertain significance163076499130764991Humanname
597755317CV3590482single nucleotide variantNM_014771.4(RNF40):c.602G>A (p.Arg201His)not specified [RCV004847586]uncertain significance163076433830764338Humanname
597755326CV3590484single nucleotide variantNM_014771.4(RNF40):c.674C>T (p.Ala225Val)not specified [RCV004847588]likely benign163076496230764962Humanname
597687979CV3590485single nucleotide variantNM_014771.4(RNF40):c.580C>T (p.Arg194Cys)not specified [RCV004858553]uncertain significance163076431630764316Humanname
597755330CV3590486single nucleotide variantNM_014771.4(RNF40):c.869G>A (p.Arg290Gln)not specified [RCV004847589]uncertain significance163076527830765278Humanname
597688008CV3590489single nucleotide variantNM_014771.4(RNF40):c.715C>G (p.Arg239Gly)not specified [RCV004858556]uncertain significance163076500330765003Humanname
597755339CV3590492single nucleotide variantNM_014771.4(RNF40):c.875G>A (p.Arg292Gln)not specified [RCV004847591]uncertain significance163076528430765284Humanname
597755343CV3590493single nucleotide variantNM_005785.4(RNF41):c.826G>C (p.Val276Leu)not specified [RCV004847592]uncertain significance125620657556206575Humanname
597688027CV3590494single nucleotide variantNM_005785.4(RNF41):c.808C>T (p.Arg270Cys)not specified [RCV004858558]uncertain significance125620659356206593Humanname
597688139CV3590515single nucleotide variantNM_017763.6(RNF43):c.817G>A (p.Ala273Thr)not specified [RCV004858570]uncertain significance175836081558360815Humanname
597755387CV3590516single nucleotide variantNM_017763.6(RNF43):c.946A>G (p.Ile316Val)not specified [RCV004847602]uncertain significance175836015558360155Humanname
597688161CV3590518single nucleotide variantNM_017763.6(RNF43):c.782A>T (p.Asp261Val)not specified [RCV004858572]uncertain significance175836085058360850Humanname
597755391CV3590521single nucleotide variantNM_017763.6(RNF43):c.728T>C (p.Leu243Pro)not specified [RCV004847603]uncertain significance175836090458360904Humanname
597755395CV3590522single nucleotide variantNM_017763.6(RNF43):c.830A>T (p.Glu277Val)not specified [RCV004847604]uncertain significance175836080258360802Humanname
597688258CV3590535single nucleotide variantNM_017763.6(RNF43):c.534G>C (p.Lys178Asn)not specified [RCV004858582]uncertain significance175836332358363323Humanname
597755460CV3590557single nucleotide variantNM_017763.6(RNF43):c.320T>C (p.Val107Ala)not specified [RCV004847620]uncertain significance175837096658370966Humanname
597688373CV3590561single nucleotide variantNM_017763.6(RNF43):c.980G>A (p.Gly327Glu)not specified [RCV004858595]uncertain significance175835879658358796Humanname
597755471CV3590562single nucleotide variantNM_017763.6(RNF43):c.716C>T (p.Ala239Val)not specified [RCV004847623]uncertain significance175836091658360916Humanname
597755475CV3590564single nucleotide variantNM_014901.5(RNF44):c.661G>A (p.Asp221Asn)not specified [RCV004847624]uncertain significance5176530722176530722Humanname
597688394CV3590565single nucleotide variantNM_014901.5(RNF44):c.398A>G (p.Gln133Arg)not specified [RCV004858597]uncertain significance5176531530176531530Humanname
597688404CV3590567single nucleotide variantNM_014901.5(RNF44):c.719C>T (p.Ala240Val)not specified [RCV004858598]uncertain significance5176530664176530664Humanname
597688413CV3590568single nucleotide variantNM_014901.5(RNF44):c.916C>T (p.Pro306Ser)not specified [RCV004858599]uncertain significance5176530092176530092Humanname
597633445CV3705365single nucleotide variantNM_017763.6(RNF43):c.820A>G (p.Ile274Val)Sessile serrated polyposis cancer syndrome [RCV005023827]uncertain significance175836081258360812Human1name
597770995CV3705366single nucleotide variantNM_017763.6(RNF43):c.649G>T (p.Val217Leu)Sessile serrated polyposis cancer syndrome [RCV005020541]uncertain significance175836258258362582Human1name
597633459CV3705367single nucleotide variantNM_017763.6(RNF43):c.323A>G (p.Lys108Arg)Sessile serrated polyposis cancer syndrome [RCV005023829]uncertain significance175837096358370963Human1name
597840128CV3756035single nucleotide variantNM_017763.6(RNF43):c.400G>A (p.Ala134Thr)not provided [RCV005086307]uncertain significance175836357658363576Humanname
597927842CV3788731single nucleotide variantNM_017763.6(RNF43):c.793A>T (p.Ser265Cys)not provided [RCV005131209]uncertain significance175836083958360839Humanname
597949390CV3801424single nucleotide variantNM_017763.6(RNF43):c.404G>C (p.Ser135Thr)not provided [RCV005135604]uncertain significance175836357258363572Humanname
597945738CV3844936single nucleotide variantNM_017763.6(RNF43):c.571C>T (p.Pro191Ser)not provided [RCV005188922]uncertain significance175836328658363286Humanname
597948465CV3852504single nucleotide variantNM_017763.6(RNF43):c.610A>T (p.Thr204Ser)not provided [RCV005189582]uncertain significance175836262158362621Humanname
597906069CV3853219single nucleotide variantNM_017763.6(RNF43):c.557T>C (p.Ile186Thr)not provided [RCV005202876]uncertain significance175836330058363300Humanname
597887645CV3859361single nucleotide variantNM_017763.6(RNF43):c.393G>T (p.Glu131Asp)not provided [RCV005200017]|not specified [RCV005269220]uncertain significance175836358358363583Humanname
598124111CV3881265single nucleotide variantNM_017763.6(RNF43):c.341G>T (p.Arg114Leu)Sessile serrated polyposis cancer syndrome [RCV005393013]|not specified [RCV005231689]uncertain significance175837094558370945Human1name
598124021CV3884012single nucleotide variantNM_017763.6(RNF43):c.670C>T (p.Pro224Ser)not provided [RCV005234839]uncertain significance175836256158362561Humanname
598203749CV3896523deletionNM_017763.6(RNF43):c.2097del (p.Ile700fs)Hyperplastic polyposis syndrome [RCV005356752]uncertain significance175835767958357679Humanname
598203755CV3896524deletionNM_017763.6(RNF43):c.2248del (p.Asp750fs)Sessile serrated polyposis cancer syndrome [RCV005356753]uncertain significance175835752858357528Human1name
598205435CV3909680single nucleotide variantNM_014771.4(RNF40):c.859G>A (p.Glu287Lys)not specified [RCV005269699]uncertain significance163076526830765268Humanname
598205461CV3909684single nucleotide variantNM_014771.4(RNF40):c.856A>G (p.Ile286Val)not specified [RCV005269703]uncertain significance163076526530765265Humanname
598205489CV3909688single nucleotide variantNM_005785.4(RNF41):c.464C>T (p.Thr155Met)not specified [RCV005269707]uncertain significance125620819756208197Humanname
598205497CV3909689single nucleotide variantNM_005785.4(RNF41):c.416G>A (p.Arg139His)not specified [RCV005269708]uncertain significance125620824556208245Humanname
598205540CV3909695single nucleotide variantNM_017763.6(RNF43):c.977T>G (p.Leu326Arg)not specified [RCV005269714]uncertain significance175835879958358799Humanname
598205546CV3909696single nucleotide variantNM_017763.6(RNF43):c.974C>G (p.Ser325Cys)not specified [RCV005269715]uncertain significance175835880258358802Humanname
598205635CV3909708single nucleotide variantNM_017763.6(RNF43):c.884A>G (p.His295Arg)not specified [RCV005269727]uncertain significance175836021758360217Humanname
598205659CV3909711single nucleotide variantNM_017763.6(RNF43):c.556A>G (p.Ile186Val)not specified [RCV005269730]uncertain significance175836330158363301Humanname
598205700CV3909716single nucleotide variantNM_017763.6(RNF43):c.386C>T (p.Ala129Val)not specified [RCV005269735]uncertain significance175836359058363590Humanname
598205759CV3909725single nucleotide variantNM_017763.6(RNF43):c.638T>C (p.Ile213Thr)not specified [RCV005269744]uncertain significance175836259358362593Humanname
598205840CV3909737single nucleotide variantNM_017763.6(RNF43):c.590A>G (p.Tyr197Cys)not specified [RCV005269756]uncertain significance175836264158362641Humanname
598205848CV3909738single nucleotide variantNM_017763.6(RNF43):c.338G>A (p.Arg113Gln)not specified [RCV005269757]likely benign175837094858370948Humanname
598205904CV3909747single nucleotide variantNM_017763.6(RNF43):c.685C>A (p.Pro229Thr)not specified [RCV005269766]uncertain significance175836254658362546Humanname
598205977CV3909759single nucleotide variantNM_017763.6(RNF43):c.302C>T (p.Pro101Leu)not specified [RCV005269778]uncertain significance175837098458370984Humanname
598206004CV3909763single nucleotide variantNM_017763.6(RNF43):c.806C>T (p.Ala269Val)not specified [RCV005269782]uncertain significance175836082658360826Humanname
598206075CV3909774single nucleotide variantNM_017763.6(RNF43):c.983C>T (p.Pro328Leu)not specified [RCV005269793]uncertain significance175835879358358793Humanname
598206121CV3909781single nucleotide variantNM_017763.6(RNF43):c.931C>G (p.Leu311Val)not specified [RCV005269800]uncertain significance175836017058360170Humanname
598206127CV3909782single nucleotide variantNM_017763.6(RNF43):c.794G>C (p.Ser265Thr)not specified [RCV005269801]uncertain significance175836083858360838Humanname
598206163CV3909787single nucleotide variantNM_017763.6(RNF43):c.587A>T (p.Asp196Val)not specified [RCV005269806]uncertain significance175836264458362644Humanname
598206188CV3909791single nucleotide variantNM_017763.6(RNF43):c.367G>A (p.Ala123Thr)not specified [RCV005269810]uncertain significance175837091958370919Humanname
598206202CV3909793single nucleotide variantNM_017763.6(RNF43):c.409G>A (p.Val137Ile)not specified [RCV005269812]uncertain significance175836356758363567Humanname
598206220CV3909796single nucleotide variantNM_017763.6(RNF43):c.338G>C (p.Arg113Pro)not specified [RCV005269815]uncertain significance175837094858370948Humanname
598206233CV3909798single nucleotide variantNM_017763.6(RNF43):c.601A>G (p.Ile201Val)not specified [RCV005269817]uncertain significance175836263058362630Humanname
598206251CV3909801single nucleotide variantNM_017763.6(RNF43):c.727C>A (p.Leu243Met)not specified [RCV005269820]uncertain significance175836090558360905Humanname
598206358CV3909818single nucleotide variantNM_017763.6(RNF43):c.701A>G (p.Gln234Arg)not specified [RCV005269837]uncertain significance175836093158360931Humanname
598206398CV3909825single nucleotide variantNM_014901.5(RNF44):c.346A>C (p.Thr116Pro)not specified [RCV005269844]uncertain significance5176531582176531582Humanname
598206409CV3909827single nucleotide variantNM_014901.5(RNF44):c.563C>T (p.Pro188Leu)not specified [RCV005269846]uncertain significance5176530924176530924Humanname
598206415CV3909828single nucleotide variantNM_014901.5(RNF44):c.808T>C (p.Ser270Pro)not specified [RCV005269847]uncertain significance5176530200176530200Humanname
15110484CV725200single nucleotide variantNM_005785.4(RNF41):c.408G>C (p.Lys136Asn)not provided [RCV000894074]benign125620825356208253Humanname
15121750CV755984single nucleotide variantNM_017763.6(RNF43):c.970C>A (p.Gln324Lys)Sessile serrated polyposis cancer syndrome [RCV005392545]|not provided [RCV000918534]|not specified [RCV003493756]likely benign|conflicting interpretations of pathogenicity|uncertain significance175835880658358806Human1name
26897148CV845680single nucleotide variantNM_017763.6(RNF43):c.640C>G (p.Leu214Val)Hyperplastic polyposis syndrome [RCV005359840]|Sessile serrated polyposis cancer syndrome [RCV003467828]|not provided [RCV001065284]|not specified [RCV002268426]uncertain significance175836259158362591Human1name
26884596CV845681single nucleotide variantNM_017763.6(RNF43):c.627C>G (p.Ile209Met)not provided [RCV001052064]uncertain significance175836260458362604Humanname
26888777CV845682single nucleotide variantNM_017763.6(RNF43):c.349C>T (p.Arg117Cys)not provided [RCV001057716]|not specified [RCV005268890]uncertain significance175837093758370937Humanname
38466958CV920919single nucleotide variantNM_017763.6(RNF43):c.988C>T (p.Arg330Ter)Sessile serrated polyposis cancer syndrome [RCV003227932]|not provided [RCV001200226]likely pathogenic175835878858358788Human1name
38470370CV938046single nucleotide variantNM_017763.6(RNF43):c.875A>G (p.His292Arg)not provided [RCV001202574]uncertain significance175836022658360226Humanname
38467143CV938048single nucleotide variantNM_017763.6(RNF43):c.680G>A (p.Ser227Asn)Hyperplastic polyposis syndrome [RCV005359930]|not provided [RCV001201970]uncertain significance175836255158362551Humanname
38477121CV938049single nucleotide variantNM_017763.6(RNF43):c.667C>T (p.Arg223Cys)Sessile serrated polyposis cancer syndrome [RCV003469331]|not provided [RCV001204947]|not specified [RCV004033632]uncertain significance175836256458362564Human1name
38479750CV950058single nucleotide variantNM_017763.6(RNF43):c.833A>T (p.Glu278Val)Sessile serrated polyposis cancer syndrome [RCV003469426]|not provided [RCV001234468]uncertain significance175836079958360799Human1name
38487029CV950059single nucleotide variantNM_017763.6(RNF43):c.655C>T (p.Arg219Cys)Sessile serrated polyposis cancer syndrome [RCV003469442]|not provided [RCV001237404]|not specified [RCV002268460]uncertain significance175836257658362576Human1name
38483274CV950060single nucleotide variantNM_017763.6(RNF43):c.497G>A (p.Gly166Asp)Sessile serrated polyposis cancer syndrome [RCV004570595]|not provided [RCV001235853]|not specified [RCV005269003]uncertain significance175836336058363360Human1name
38475114CV950061single nucleotide variantNM_017763.6(RNF43):c.421A>G (p.Ile141Val)not provided [RCV001232482]uncertain significance175836355558363555Humanname
38483299CV950062single nucleotide variantNM_017763.6(RNF43):c.395G>A (p.Arg132Gln)not provided [RCV001235866]|not specified [RCV004596428]uncertain significance175836358158363581Humanname
38486567CV950064single nucleotide variantNM_017763.6(RNF43):c.343G>T (p.Ala115Ser)Sessile serrated polyposis cancer syndrome [RCV003469440]|not provided [RCV001237225]|not specified [RCV005269007]likely benign|uncertain significance175837094358370943Human1name
38496052CV958205single nucleotide variantNM_017763.6(RNF43):c.887G>A (p.Arg296His)Sessile serrated polyposis cancer syndrome [RCV003469462]|not provided [RCV001242330]|not specified [RCV005269015]uncertain significance175836021458360214Human1name
126762501CV997695single nucleotide variantNM_017763.6(RNF43):c.910C>T (p.His304Tyr)not provided [RCV001309907]uncertain significance175836019158360191Humanname
126758886CV997696single nucleotide variantNM_017763.6(RNF43):c.852G>T (p.Glu284Asp)not provided [RCV001299325]uncertain significance175836024958360249Humanname
126749387CV997697single nucleotide variantNM_017763.6(RNF43):c.766C>T (p.Arg256Trp)Sessile serrated polyposis cancer syndrome [RCV004570680]|not provided [RCV001297124]|not specified [RCV004036060]uncertain significance175836086658360866Human1name
126737725CV997698single nucleotide variantNM_017763.6(RNF43):c.749C>A (p.Ala250Asp)Sessile serrated polyposis cancer syndrome [RCV004570711]|not provided [RCV001304914]|not specified [RCV004857780]uncertain significance175836088358360883Human1name
126760394CV997699single nucleotide variantNM_017763.6(RNF43):c.683G>A (p.Arg228Lys)Sessile serrated polyposis cancer syndrome [RCV003469523]|not provided [RCV001299781]|not specified [RCV004857778]uncertain significance175836254858362548Human1name
126766793CV997700single nucleotide variantNM_017763.6(RNF43):c.599G>A (p.Trp200Ter)not provided [RCV001302034]uncertain significance175836263258362632Humanname
126762117CV997701single nucleotide variantNM_017763.6(RNF43):c.547C>G (p.His183Asp)not provided [RCV001309795]uncertain significance175836331058363310Humanname
151817839CV1337504single nucleotide variantNM_017763.6(RNF43):c.2319G>C (p.Glu773Asp)not provided [RCV001919265]uncertain significance175835497658354976Humanname
151883735CV1338125single nucleotide variantNM_017763.6(RNF43):c.1217C>T (p.Ala406Val)not provided [RCV001962192]|not specified [RCV004847843]uncertain significance175835855958358559Humanname
151890528CV1348994single nucleotide variantNM_017763.6(RNF43):c.1465G>C (p.Gly489Arg)Sessile serrated polyposis cancer syndrome [RCV004571599]|not provided [RCV001943066]uncertain significance175835831158358311Human1name
151833199CV1388311single nucleotide variantNM_017763.6(RNF43):c.2135C>T (p.Pro712Leu)not provided [RCV001955881]|not specified [RCV004043680]uncertain significance175835764158357641Humanname
151818947CV1390649single nucleotide variantNM_017763.6(RNF43):c.1820C>T (p.Ser607Leu)Sessile serrated polyposis cancer syndrome [RCV003471057]|not provided [RCV001954566]|not specified [RCV005271512]likely benign|uncertain significance175835795658357956Human1name
151827125CV1396311single nucleotide variantNM_017763.6(RNF43):c.2100C>G (p.Ile700Met)not provided [RCV001934692]|not specified [RCV005271419]uncertain significance175835767658357676Humanname
151834935CV1420039single nucleotide variantNM_017763.6(RNF43):c.2287C>T (p.Gln763Ter)not provided [RCV001977033]|not specified [RCV005271606]uncertain significance175835748958357489Humanname
151817456CV1441168single nucleotide variantNM_017763.6(RNF43):c.1306C>T (p.Arg436Cys)Sessile serrated polyposis cancer syndrome [RCV004571633]|not provided [RCV001933814]uncertain significance175835847058358470Human1name
151810417CV1446526single nucleotide variantNM_017763.6(RNF43):c.1685T>G (p.Phe562Cys)Sessile serrated polyposis cancer syndrome [RCV004571924]|not provided [RCV002012380]|not specified [RCV005266085]uncertain significance175835809158358091Human1name
151891455CV1461212single nucleotide variantNM_017763.6(RNF43):c.1960A>G (p.Arg654Gly)not provided [RCV001943378]uncertain significance175835781658357816Humanname
151888315CV1468354single nucleotide variantNM_017763.6(RNF43):c.1704G>C (p.Lys568Asn)not provided [RCV002001061]uncertain significance175835807258358072Humanname
151818950CV1488146single nucleotide variantNM_017763.6(RNF43):c.1817C>A (p.Pro606His)not provided [RCV001975538]uncertain significance175835795958357959Humanname
151823529CV1494245single nucleotide variantNM_017763.6(RNF43):c.1039G>A (p.Gly347Ser)Sessile serrated polyposis cancer syndrome [RCV003471082]|not provided [RCV001955001]|not specified [RCV004042137]uncertain significance175835873758358737Human1name
151828753CV1513940single nucleotide variantNM_017763.6(RNF43):c.1604C>T (p.Ser535Leu)Hyperplastic polyposis syndrome [RCV005361852]|not provided [RCV001955467]|not specified [RCV002268587]uncertain significance175835817258358172Humanname
151889725CV1516372single nucleotide variantNM_017763.6(RNF43):c.1175G>T (p.Arg392Ile)not provided [RCV002038658]uncertain significance175835860158358601Humanname
151888516CV1517146single nucleotide variantNM_017763.6(RNF43):c.1264C>A (p.Gln422Lys)not provided [RCV002038417]uncertain significance175835851258358512Humanname
153302897CV1689997single nucleotide variantNM_017763.6(RNF43):c.1801T>C (p.Ser601Pro)not specified [RCV002268897]uncertain significance175835797558357975Humanname
153302900CV1689998single nucleotide variantNM_017763.6(RNF43):c.1645C>G (p.His549Asp)not specified [RCV002268898]uncertain significance175835813158358131Humanname
155675717CV1771715single nucleotide variantNM_017763.6(RNF43):c.1444T>C (p.Cys482Arg)not provided [RCV002297764]uncertain significance175835833258358332Humanname
155688532CV1777817single nucleotide variantNM_017763.6(RNF43):c.1778C>G (p.Ser593Cys)not provided [RCV002299173]uncertain significance175835799858357998Humanname
155699303CV1778842single nucleotide variantNM_017763.6(RNF43):c.1232C>T (p.Pro411Leu)not provided [RCV002299854]|not specified [RCV004847909]uncertain significance175835854458358544Humanname
156325331CV1871161single nucleotide variantNM_017763.6(RNF43):c.1976G>C (p.Gly659Ala)Sessile serrated polyposis cancer syndrome [RCV005019626]|not provided [RCV003063362]|not specified [RCV005266503]likely benign|uncertain significance175835780058357800Human1name
155979302CV1886319single nucleotide variantNM_017763.6(RNF43):c.1591C>T (p.Arg531Cys)Sessile serrated polyposis cancer syndrome [RCV003465953]|not provided [RCV003075572]uncertain significance175835818558358185Human1name
156151218CV1895972single nucleotide variantNM_017763.6(RNF43):c.1105C>T (p.Pro369Ser)not provided [RCV003082558]|not specified [RCV005266529]uncertain significance175835867158358671Humanname
156284025CV1896989single nucleotide variantNM_017763.6(RNF43):c.2194C>G (p.Arg732Gly)not provided [RCV003087219]|not specified [RCV004857946]uncertain significance175835758258357582Humanname
156221114CV1899795single nucleotide variantNM_017763.6(RNF43):c.1478G>A (p.Ser493Asn)Sessile serrated polyposis cancer syndrome [RCV003465964]|not provided [RCV003085001]|not specified [RCV005266533]uncertain significance175835829858358298Human1name
156167954CV1907849single nucleotide variantNM_017763.6(RNF43):c.1670A>G (p.His557Arg)Sessile serrated polyposis cancer syndrome [RCV004572785]|not provided [RCV003083135]|not specified [RCV004857947]uncertain significance175835810658358106Human1name
156403322CV1908624single nucleotide variantNM_017763.6(RNF43):c.1123T>C (p.Phe375Leu)not provided [RCV002605874]|not specified [RCV005266548]uncertain significance175835865358358653Humanname
156358592CV1914205single nucleotide variantNM_017763.6(RNF43):c.1879G>C (p.Val627Leu)not provided [RCV002632514]|not specified [RCV004847951]uncertain significance175835789758357897Humanname
156271263CV1915325single nucleotide variantNM_017763.6(RNF43):c.2195G>A (p.Arg732His)Sessile serrated polyposis cancer syndrome [RCV004572798]|not provided [RCV002628103]|not specified [RCV003321976]conflicting interpretations of pathogenicity|uncertain significance175835758158357581Human1name
156418900CV1918942single nucleotide variantNM_017763.6(RNF43):c.2284T>C (p.Cys762Arg)Sessile serrated polyposis cancer syndrome [RCV003465983]|not provided [RCV002612111]uncertain significance175835749258357492Human1name
156409217CV1922552single nucleotide variantNM_017763.6(RNF43):c.1448C>T (p.Thr483Met)not provided [RCV002607488]uncertain significance175835832858358328Humanname
156446648CV1947995single nucleotide variantNM_017763.6(RNF43):c.1589C>G (p.Pro530Arg)not provided [RCV003118160]|not specified [RCV005273613]uncertain significance175835818758358187Humanname
156444741CV1948465single nucleotide variantNM_017763.6(RNF43):c.2231C>G (p.Pro744Arg)not provided [RCV003115668]uncertain significance175835754558357545Humanname
156073696CV1968688single nucleotide variantNM_017763.6(RNF43):c.2218C>T (p.Pro740Ser)not provided [RCV002591349]uncertain significance175835755858357558Humanname
156114200CV1993805single nucleotide variantNM_017763.6(RNF43):c.1481G>C (p.Ser494Thr)not provided [RCV002662606]uncertain significance175835829558358295Humanname
156266560CV1993956single nucleotide variantNM_017763.6(RNF43):c.1148T>C (p.Met383Thr)not provided [RCV002646392]uncertain significance175835862858358628Humanname
156205118CV2004417single nucleotide variantNM_017763.6(RNF43):c.1823G>A (p.Gly608Glu)not provided [RCV002666637]uncertain significance175835795358357953Humanname
155910241CV2017611single nucleotide variantNM_017763.6(RNF43):c.1082C>T (p.Pro361Leu)not provided [RCV002681661]uncertain significance175835869458358694Humanname
156040011CV2026341single nucleotide variantNM_017763.6(RNF43):c.1415A>T (p.His472Leu)not provided [RCV002736148]uncertain significance175835836158358361Humanname
156016829CV2044124single nucleotide variantNM_017763.6(RNF43):c.1861G>A (p.Glu621Lys)not provided [RCV002795389]uncertain significance175835791558357915Humanname
155950493CV2046681single nucleotide variantNM_017763.6(RNF43):c.2213A>G (p.His738Arg)not provided [RCV002775750]uncertain significance175835756358357563Humanname
156057332CV2050681single nucleotide variantNM_017763.6(RNF43):c.1355C>G (p.Thr452Arg)not provided [RCV002796973]uncertain significance175835842158358421Humanname
156021657CV2055550single nucleotide variantNM_017763.6(RNF43):c.1606G>A (p.Val536Met)not provided [RCV002820644]uncertain significance175835817058358170Humanname
156168929CV2075440single nucleotide variantNM_017763.6(RNF43):c.2005C>T (p.Pro669Ser)not provided [RCV002851472]|not specified [RCV004847928]uncertain significance175835777158357771Humanname
155987821CV2091424single nucleotide variantNM_017763.6(RNF43):c.1235A>C (p.Tyr412Ser)not provided [RCV002908011]uncertain significance175835854158358541Humanname
156208860CV2110412single nucleotide variantNM_017763.6(RNF43):c.2338G>C (p.Glu780Gln)Sessile serrated polyposis cancer syndrome [RCV003465869]|not provided [RCV002957660]|not specified [RCV004857931]uncertain significance175835495758354957Human1name
156289747CV2111302single nucleotide variantNM_017763.6(RNF43):c.1716A>T (p.Glu572Asp)not provided [RCV002922103]|not specified [RCV004847932]uncertain significance175835806058358060Humanname
155938907CV2119669single nucleotide variantNM_017763.6(RNF43):c.1103G>A (p.Arg368Gln)Sessile serrated polyposis cancer syndrome [RCV003465874]|not provided [RCV002971145]|not specified [RCV003493973]uncertain significance175835867358358673Human1name
155954972CV2123771single nucleotide variantNM_017763.6(RNF43):c.1845C>G (p.Cys615Trp)not provided [RCV002972073]|not specified [RCV004847934]uncertain significance175835793158357931Humanname
156031991CV2142107single nucleotide variantNM_017763.6(RNF43):c.1189C>T (p.Arg397Trp)Sessile serrated polyposis cancer syndrome [RCV003465882]|not provided [RCV002976645]|not specified [RCV004857934]uncertain significance175835858758358587Human1name
156248394CV2145763single nucleotide variantNM_017763.6(RNF43):c.1196C>T (p.Pro399Leu)not provided [RCV003008356]uncertain significance175835858058358580Humanname
155958174CV2159333single nucleotide variantNM_017763.6(RNF43):c.1990A>G (p.Thr664Ala)not provided [RCV003015219]uncertain significance175835778658357786Humanname
155916083CV2197208single nucleotide variantNM_014771.4(RNF40):c.2672T>A (p.Leu891Gln)not specified [RCV004078996]uncertain significance163077191830771918Humanname
156083469CV2205519single nucleotide variantNM_014771.4(RNF40):c.1811G>A (p.Arg604Gln)not specified [RCV004082451]uncertain significance163076836230768362Humanname
156280611CV2206417single nucleotide variantNM_014771.4(RNF40):c.2539A>G (p.Lys847Glu)not specified [RCV004078739]uncertain significance163076955330769553Humanname
156333701CV2214647single nucleotide variantNM_014771.4(RNF40):c.1163A>G (p.Tyr388Cys)not specified [RCV004090475]uncertain significance163076642830766428Humanname
156120497CV2233702single nucleotide variantNM_014771.4(RNF40):c.1969G>A (p.Ala657Thr)not specified [RCV004100149]uncertain significance163076852030768520Humanname
156045591CV2234482single nucleotide variantNM_014771.4(RNF40):c.2531G>T (p.Gly844Val)not specified [RCV004100685]uncertain significance163076954530769545Humanname
156195597CV2251871single nucleotide variantNM_014771.4(RNF40):c.2849G>A (p.Cys950Tyr)not specified [RCV004119852]uncertain significance163077395730773957Humanname
156137072CV2253386single nucleotide variantNM_014901.5(RNF44):c.1057C>T (p.Arg353Trp)not specified [RCV004125119]uncertain significance5176529602176529602Humanname
155990716CV2255559single nucleotide variantNM_014771.4(RNF40):c.1184T>A (p.Phe395Tyr)not specified [RCV004119980]uncertain significance163076644930766449Humanname
156168500CV2270566single nucleotide variantNM_014771.4(RNF40):c.1101T>A (p.Asn367Lys)not specified [RCV004137515]uncertain significance163076627030766270Humanname
156335281CV2272802single nucleotide variantNM_014901.5(RNF44):c.1100G>A (p.Arg367His)not specified [RCV004135713]uncertain significance5176529559176529559Humanname
155944567CV2295198single nucleotide variantNM_014771.4(RNF40):c.1253C>T (p.Ala418Val)not specified [RCV004158289]uncertain significance163076651830766518Humanname
156001353CV2296404single nucleotide variantNM_014901.5(RNF44):c.1120C>G (p.Gln374Glu)not specified [RCV004148151]uncertain significance5176529539176529539Humanname
156208405CV2308146single nucleotide variantNM_014901.5(RNF44):c.1244G>A (p.Arg415Gln)not specified [RCV004164384]uncertain significance5176529083176529083Humanname
156181401CV2320818single nucleotide variantNM_014771.4(RNF40):c.2683C>T (p.Arg895Trp)not specified [RCV004172652]uncertain significance163077192930771929Humanname
156363470CV2329900single nucleotide variantNM_014771.4(RNF40):c.1849C>T (p.Arg617Trp)not specified [RCV004183355]uncertain significance163076840030768400Humanname
155922693CV2347363single nucleotide variantNM_014771.4(RNF40):c.1631C>T (p.Ala544Val)not specified [RCV004207205]uncertain significance163076818230768182Humanname
156343591CV2349180single nucleotide variantNM_014771.4(RNF40):c.1819G>C (p.Glu607Gln)not specified [RCV004199139]uncertain significance163076837030768370Humanname
156247747CV2357082single nucleotide variantNM_014771.4(RNF40):c.2434G>A (p.Glu812Lys)not specified [RCV004206882]uncertain significance163076937230769372Humanname
156387092CV2372631single nucleotide variantNM_014771.4(RNF40):c.1046G>A (p.Arg349His)not specified [RCV004221833]uncertain significance163076621530766215Humanname
156178402CV2374593single nucleotide variantNM_014771.4(RNF40):c.2638G>A (p.Val880Met)not specified [RCV004225219]uncertain significance163077188430771884Humanname
156346175CV2377938single nucleotide variantNM_014771.4(RNF40):c.1366C>T (p.Arg456Cys)not specified [RCV004230504]uncertain significance163076681330766813Humanname
155999326CV2378573single nucleotide variantNM_014771.4(RNF40):c.1105C>T (p.Arg369Cys)not specified [RCV004229009]uncertain significance163076627430766274Humanname
156007989CV2392676single nucleotide variantNM_014771.4(RNF40):c.2122C>T (p.Arg708Trp)not specified [RCV004247055]uncertain significance163076886230768862Humanname
156258364CV2395370single nucleotide variantNM_014771.4(RNF40):c.2533G>A (p.Val845Met)not specified [RCV004239461]uncertain significance163076954730769547Humanname
155964799CV2395880single nucleotide variantNM_014901.5(RNF44):c.1270G>C (p.Ala424Pro)not specified [RCV004237441]uncertain significance5176529057176529057Humanname
329377220CV2435849single nucleotide variantNM_014771.4(RNF40):c.2675C>G (p.Ala892Gly)not specified [RCV004255085]uncertain significance163077192130771921Humanname
401722978CV2677157single nucleotide variantNM_014771.4(RNF40):c.2117G>A (p.Arg706His)not specified [RCV004295791]uncertain significance163076885730768857Humanname
401782650CV2697141single nucleotide variantNM_014901.5(RNF44):c.1162G>A (p.Glu388Lys)not specified [RCV004302135]uncertain significance5176529362176529362Humanname
401759773CV2701713single nucleotide variantNM_017763.6(RNF43):c.1523T>G (p.Leu508Arg)not specified [RCV004314120]uncertain significance175835825358358253Humanname
401771474CV2722840single nucleotide variantNM_017763.6(RNF43):c.2014G>A (p.Ala672Thr)not specified [RCV004325256]uncertain significance175835776258357762Humanname
401768614CV2735365single nucleotide variantNM_014771.4(RNF40):c.1778C>T (p.Thr593Ile)not specified [RCV004334020]uncertain significance163076832930768329Humanname
401797934CV2741181single nucleotide variantNM_017763.6(RNF43):c.1168T>A (p.Phe390Ile)not specified [RCV003322344]uncertain significance175835860858358608Humanname
401895648CV2768083single nucleotide variantNM_014771.4(RNF40):c.2927A>G (p.Tyr976Cys)not specified [RCV004348315]uncertain significance163077403530774035Humanname
401874154CV2773659single nucleotide variantNM_014771.4(RNF40):c.1544T>C (p.Ile515Thr)not specified [RCV004356347]uncertain significance163076800830768008Humanname
401948178CV2833414single nucleotide variantNM_017763.6(RNF43):c.2015C>T (p.Ala672Val)Sessile serrated polyposis cancer syndrome [RCV003471860]|not provided [RCV003779100]|not specified [RCV005273693]uncertain significance175835776158357761Human1name
401948181CV2833415single nucleotide variantNM_017763.6(RNF43):c.2248G>A (p.Asp750Asn)Sessile serrated polyposis cancer syndrome [RCV003471861]|not provided [RCV003779101]uncertain significance175835752858357528Human1name
401948186CV2833417single nucleotide variantNM_017763.6(RNF43):c.1912A>T (p.Ser638Cys)Sessile serrated polyposis cancer syndrome [RCV003471863]|not provided [RCV003732596]|not specified [RCV004847969]uncertain significance175835786458357864Human1name
401948191CV2833419single nucleotide variantNM_017763.6(RNF43):c.1953C>A (p.His651Gln)Sessile serrated polyposis cancer syndrome [RCV003471865]|not provided [RCV003720924]|not specified [RCV005273694]uncertain significance175835782358357823Human1name
401948394CV2833421single nucleotide variantNM_017763.6(RNF43):c.1133C>G (p.Ser378Cys)Sessile serrated polyposis cancer syndrome [RCV003471867]|not provided [RCV004723325]|not specified [RCV004857981]uncertain significance175835864358358643Human1name
401948389CV2833423single nucleotide variantNM_017763.6(RNF43):c.1361G>A (p.Arg454His)Sessile serrated polyposis cancer syndrome [RCV003471869]|not provided [RCV003720925]uncertain significance175835841558358415Human1name
401948383CV2833425single nucleotide variantNM_017763.6(RNF43):c.1639C>T (p.His547Tyr)Sessile serrated polyposis cancer syndrome [RCV003471871]uncertain significance175835813758358137Human1name
401948380CV2833426single nucleotide variantNM_017763.6(RNF43):c.2108C>T (p.Pro703Leu)Sessile serrated polyposis cancer syndrome [RCV003471872]|not provided [RCV004723326]|not specified [RCV005273695]uncertain significance175835766858357668Human1name
401948371CV2833429single nucleotide variantNM_017763.6(RNF43):c.1405G>C (p.Gly469Arg)Sessile serrated polyposis cancer syndrome [RCV003471875]uncertain significance175835837158358371Human1name
401948360CV2833433single nucleotide variantNM_017763.6(RNF43):c.1156C>T (p.Arg386Trp)Sessile serrated polyposis cancer syndrome [RCV003471879]|not provided [RCV005100218]uncertain significance175835862058358620Human1name
401948357CV2833434single nucleotide variantNM_017763.6(RNF43):c.1463A>T (p.Gln488Leu)Sessile serrated polyposis cancer syndrome [RCV003471880]|not specified [RCV005273698]uncertain significance175835831358358313Human1name
401948354CV2833435single nucleotide variantNM_017763.6(RNF43):c.2093C>T (p.Pro698Leu)Sessile serrated polyposis cancer syndrome [RCV003471881]uncertain significance175835768358357683Human1name
401948343CV2833439single nucleotide variantNM_017763.6(RNF43):c.1898G>A (p.Cys633Tyr)Sessile serrated polyposis cancer syndrome [RCV003471885]uncertain significance175835787858357878Human1name
401948340CV2833440single nucleotide variantNM_017763.6(RNF43):c.1681C>T (p.Arg561Trp)Sessile serrated polyposis cancer syndrome [RCV003471886]|not specified [RCV005273699]uncertain significance175835809558358095Human1name
401948338CV2833441single nucleotide variantNM_017763.6(RNF43):c.1175G>C (p.Arg392Thr)Sessile serrated polyposis cancer syndrome [RCV003471887]uncertain significance175835860158358601Human1name
401948291CV2833442single nucleotide variantNM_017763.6(RNF43):c.1661G>A (p.Arg554Gln)Sessile serrated polyposis cancer syndrome [RCV003471888]|not provided [RCV005100219]|not specified [RCV004847971]uncertain significance175835811558358115Human1name
401948263CV2833443single nucleotide variantNM_017763.6(RNF43):c.1504A>G (p.Ser502Gly)Sessile serrated polyposis cancer syndrome [RCV003471889]|not provided [RCV004723327]uncertain significance175835827258358272Human1name
401948199CV2833446single nucleotide variantNM_017763.6(RNF43):c.1606G>T (p.Val536Leu)Sessile serrated polyposis cancer syndrome [RCV003471892]|not provided [RCV004775405]|not specified [RCV004847972]uncertain significance175835817058358170Human1name
401948207CV2833449single nucleotide variantNM_017763.6(RNF43):c.1544G>A (p.Gly515Glu)Sessile serrated polyposis cancer syndrome [RCV003471895]|not specified [RCV005273701]uncertain significance175835823258358232Human1name
401948210CV2833450single nucleotide variantNM_017763.6(RNF43):c.1249G>C (p.Gly417Arg)Sessile serrated polyposis cancer syndrome [RCV003471896]uncertain significance175835852758358527Human1name
401948217CV2833453single nucleotide variantNM_017763.6(RNF43):c.1751G>A (p.Arg584Gln)Sessile serrated polyposis cancer syndrome [RCV003471899]|not provided [RCV003720927]|not specified [RCV004857982]uncertain significance175835802558358025Human1name
405006667CV2853007single nucleotide variantNM_017763.6(RNF43):c.2129T>A (p.Leu710Gln)not specified [RCV003494201]uncertain significance175835764758357647Humanname
405006683CV2853009single nucleotide variantNM_017763.6(RNF43):c.1009C>T (p.Arg337Ter)not provided [RCV003494203]likely pathogenic175835876758358767Humanname
405026922CV2889976single nucleotide variantNM_017763.6(RNF43):c.1573A>C (p.Ser525Arg)not provided [RCV003578048]uncertain significance175835820358358203Humanname
402465523CV2913725single nucleotide variantNM_017763.6(RNF43):c.1972G>A (p.Gly658Arg)not provided [RCV003569250]uncertain significance175835780458357804Humanname
405031092CV2922411single nucleotide variantNM_017763.6(RNF43):c.1267T>C (p.Ser423Pro)not provided [RCV003578366]uncertain significance175835850958358509Humanname
405189566CV2924553single nucleotide variantNM_017763.6(RNF43):c.1157G>T (p.Arg386Leu)not provided [RCV003564781]uncertain significance175835861958358619Humanname
405083858CV2946416single nucleotide variantNM_017763.6(RNF43):c.1851G>C (p.Arg617Ser)not provided [RCV003664812]uncertain significance175835792558357925Humanname
402506066CV2947713single nucleotide variantNM_017763.6(RNF43):c.1334G>A (p.Gly445Glu)not provided [RCV003662074]uncertain significance175835844258358442Humanname
405122570CV2954131single nucleotide variantNM_017763.6(RNF43):c.1723G>C (p.Val575Leu)not provided [RCV003667578]uncertain significance175835805358358053Humanname
405197454CV2972826single nucleotide variantNM_017763.6(RNF43):c.2150C>G (p.Pro717Arg)not provided [RCV003677820]uncertain significance175835762658357626Humanname
405224442CV2979290single nucleotide variantNM_017763.6(RNF43):c.1751G>C (p.Arg584Pro)not provided [RCV003681182]uncertain significance175835802558358025Humanname
405249001CV2987305single nucleotide variantNM_017763.6(RNF43):c.1724T>C (p.Val575Ala)not provided [RCV003686092]uncertain significance175835805258358052Humanname
404994352CV2996073single nucleotide variantNM_017763.6(RNF43):c.1033C>G (p.His345Asp)not provided [RCV003692594]uncertain significance175835874358358743Humanname
402481251CV3001122single nucleotide variantNM_017763.6(RNF43):c.1576G>C (p.Val526Leu)not provided [RCV003686632]uncertain significance175835820058358200Humanname
404980644CV3006133single nucleotide variantNM_017763.6(RNF43):c.1418G>T (p.Gly473Val)not provided [RCV003691156]uncertain significance175835835858358358Humanname
405235508CV3040914single nucleotide variantNM_017763.6(RNF43):c.1231C>A (p.Pro411Thr)not provided [RCV003712284]uncertain significance175835854558358545Humanname
405243058CV3043906single nucleotide variantNM_017763.6(RNF43):c.1894A>G (p.Ile632Val)not provided [RCV003719646]uncertain significance175835788258357882Humanname
405253168CV3044317single nucleotide variantNM_017763.6(RNF43):c.1895T>C (p.Ile632Thr)not provided [RCV003722445]|not specified [RCV005273845]uncertain significance175835788158357881Humanname
405254114CV3045295single nucleotide variantNM_017763.6(RNF43):c.1207C>T (p.Gln403Ter)Sessile serrated polyposis cancer syndrome [RCV003989859]|not provided [RCV003722857]likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance175835856958358569Human1name
405254116CV3045296single nucleotide variantNM_017763.6(RNF43):c.1309C>T (p.Arg437Trp)not provided [RCV003722858]uncertain significance175835846758358467Humanname
405252104CV3046391single nucleotide variantNM_017763.6(RNF43):c.1744A>G (p.Ile582Val)not provided [RCV003722072]|not specified [RCV004847981]likely benign|uncertain significance175835803258358032Humanname
405123154CV3046558single nucleotide variantNM_017763.6(RNF43):c.2126G>T (p.Arg709Met)Sessile serrated polyposis cancer syndrome [RCV005014887]|not provided [RCV003724113]|not specified [RCV004857989]uncertain significance175835765058357650Human1name
405246859CV3048093single nucleotide variantNM_017763.6(RNF43):c.1331G>A (p.Ser444Asn)not provided [RCV003720538]uncertain significance175835844558358445Humanname
405133966CV3051846single nucleotide variantNM_017763.6(RNF43):c.1468G>A (p.Val490Ile)not provided [RCV003725077]|not specified [RCV004847983]likely benign|uncertain significance175835830858358308Humanname
405129979CV3054590single nucleotide variantNM_017763.6(RNF43):c.1655G>A (p.Arg552His)not provided [RCV003724739]uncertain significance175835812158358121Humanname
405245146CV3054956single nucleotide variantNM_017763.6(RNF43):c.1442A>G (p.Asn481Ser)not provided [RCV003720206]uncertain significance175835833458358334Humanname
405254141CV3055040single nucleotide variantNM_017763.6(RNF43):c.1768G>T (p.Glu590Ter)not provided [RCV003722870]uncertain significance175835800858358008Humanname
405228449CV3065812single nucleotide variantNM_017763.6(RNF43):c.2138A>G (p.Glu713Gly)not provided [RCV003734470]|not specified [RCV004847989]uncertain significance175835763858357638Humanname
405192322CV3066085single nucleotide variantNM_017763.6(RNF43):c.2068T>C (p.Tyr690His)not provided [RCV003729841]|not specified [RCV004857998]uncertain significance175835770858357708Humanname
405190252CV3069790single nucleotide variantNM_017763.6(RNF43):c.1540A>G (p.Lys514Glu)not provided [RCV003729653]|not specified [RCV004857997]likely benign|uncertain significance175835823658358236Humanname
405094697CV3134741single nucleotide variantNM_017763.6(RNF43):c.1858C>T (p.Pro620Ser)not provided [RCV003835087]uncertain significance175835791858357918Humanname
405202000CV3143606single nucleotide variantNM_017763.6(RNF43):c.1183C>A (p.His395Asn)not provided [RCV003844592]uncertain significance175835859358358593Humanname
405193848CV3150165single nucleotide variantNM_017763.6(RNF43):c.1168T>G (p.Phe390Val)not provided [RCV003843700]uncertain significance175835860858358608Humanname
405219382CV3154174single nucleotide variantNM_017763.6(RNF43):c.1135C>G (p.Gln379Glu)not provided [RCV003846866]uncertain significance175835864158358641Humanname
405183585CV3159655single nucleotide variantNM_017763.6(RNF43):c.1306C>A (p.Arg436Ser)not provided [RCV003858906]uncertain significance175835847058358470Humanname
405249826CV3170130single nucleotide variantNM_017763.6(RNF43):c.2264G>A (p.Arg755Lys)not provided [RCV003869759]|not specified [RCV005273999]uncertain significance175835751258357512Humanname
405242466CV3173335single nucleotide variantNM_017763.6(RNF43):c.1099G>A (p.Ala367Thr)not provided [RCV003867620]uncertain significance175835867758358677Humanname
405249875CV3180572single nucleotide variantNM_017763.6(RNF43):c.1852G>A (p.Ala618Thr)not provided [RCV003869849]|not specified [RCV004848001]uncertain significance175835792458357924Humanname
402474399CV3182745single nucleotide variantNM_017763.6(RNF43):c.1486A>G (p.Thr496Ala)not provided [RCV003874988]|not specified [RCV004369645]uncertain significance175835829058358290Humanname
405708496CV3225470single nucleotide variantNM_017763.6(RNF43):c.1530C>A (p.Tyr510Ter)Sessile serrated polyposis cancer syndrome [RCV003990526]likely pathogenic175835824658358246Human1name
405699076CV3313378single nucleotide variantNM_014771.4(RNF40):c.1367G>T (p.Arg456Leu)not specified [RCV004446754]uncertain significance163076681430766814Humanname
405699086CV3313380single nucleotide variantNM_014771.4(RNF40):c.1600C>T (p.His534Tyr)not specified [RCV004446756]uncertain significance163076815130768151Humanname
405699098CV3313382single nucleotide variantNM_014771.4(RNF40):c.2410C>T (p.Arg804Trp)not specified [RCV004446758]uncertain significance163076934830769348Humanname
405699104CV3313383single nucleotide variantNM_014771.4(RNF40):c.2546T>C (p.Leu849Pro)not specified [RCV004446759]uncertain significance163076956030769560Humanname
405699108CV3313384single nucleotide variantNM_014771.4(RNF40):c.2648G>A (p.Arg883Gln)not specified [RCV004446760]uncertain significance163077189430771894Humanname
405699117CV3313386single nucleotide variantNM_014771.4(RNF40):c.2950C>A (p.Pro984Thr)not specified [RCV004446762]uncertain significance163077405830774058Humanname
405699156CV3313393single nucleotide variantNM_017763.6(RNF43):c.1141C>A (p.Pro381Thr)not specified [RCV004446769]uncertain significance175835863558358635Humanname
405699606CV3313397single nucleotide variantNM_014901.5(RNF44):c.1078A>G (p.Ile360Val)not specified [RCV004446773]uncertain significance5176529581176529581Humanname
405699596CV3313399single nucleotide variantNM_014901.5(RNF44):c.1079T>C (p.Ile360Thr)not specified [RCV004446775]uncertain significance5176529580176529580Humanname
405871294CV3399340single nucleotide variantNM_017763.6(RNF43):c.2056C>A (p.Pro686Thr)Sessile serrated polyposis cancer syndrome [RCV004574771]|not specified [RCV004848007]uncertain significance175835772058357720Human1name
405871296CV3399341single nucleotide variantNM_017763.6(RNF43):c.2146G>A (p.Gly716Ser)Sessile serrated polyposis cancer syndrome [RCV004574772]uncertain significance175835763058357630Human1name
405871298CV3399342single nucleotide variantNM_017763.6(RNF43):c.2039T>C (p.Ile680Thr)Sessile serrated polyposis cancer syndrome [RCV004574773]uncertain significance175835773758357737Human1name
405871299CV3399343single nucleotide variantNM_017763.6(RNF43):c.1522C>A (p.Leu508Ile)Sessile serrated polyposis cancer syndrome [RCV004574774]|not provided [RCV004767576]uncertain significance175835825458358254Human1name
405871300CV3399344single nucleotide variantNM_017763.6(RNF43):c.1976G>A (p.Gly659Asp)Sessile serrated polyposis cancer syndrome [RCV004574775]|not provided [RCV004767577]uncertain significance175835780058357800Human1name
405871303CV3399345single nucleotide variantNM_017763.6(RNF43):c.2011G>A (p.Asp671Asn)Sessile serrated polyposis cancer syndrome [RCV004574776]uncertain significance175835776558357765Human1name
405871448CV3399347single nucleotide variantNM_017763.6(RNF43):c.1595C>T (p.Ser532Phe)Sessile serrated polyposis cancer syndrome [RCV004574778]uncertain significance175835818158358181Human1name
405871309CV3399349single nucleotide variantNM_017763.6(RNF43):c.1951C>A (p.His651Asn)Sessile serrated polyposis cancer syndrome [RCV004574780]uncertain significance175835782558357825Human1name
405871310CV3399350single nucleotide variantNM_017763.6(RNF43):c.2006C>A (p.Pro669His)Sessile serrated polyposis cancer syndrome [RCV004574781]uncertain significance175835777058357770Human1name
405871318CV3399355single nucleotide variantNM_017763.6(RNF43):c.2086G>A (p.Ala696Thr)Sessile serrated polyposis cancer syndrome [RCV004574786]|not provided [RCV005100918]|not specified [RCV005274043]uncertain significance175835769058357690Human1name
405871319CV3399356single nucleotide variantNM_017763.6(RNF43):c.1076T>C (p.Leu359Ser)Sessile serrated polyposis cancer syndrome [RCV004574787]uncertain significance175835870058358700Human1name
405871320CV3399357single nucleotide variantNM_017763.6(RNF43):c.1619G>A (p.Gly540Glu)Sessile serrated polyposis cancer syndrome [RCV004574788]|not provided [RCV005100919]|not specified [RCV004858022]uncertain significance175835815758358157Human1name
405871322CV3399358single nucleotide variantNM_017763.6(RNF43):c.1505G>T (p.Ser502Ile)Sessile serrated polyposis cancer syndrome [RCV004574789]uncertain significance175835827158358271Human1name
407486823CV3479764single nucleotide variantNM_014771.4(RNF40):c.1954C>T (p.Leu652Phe)not specified [RCV004665525]uncertain significance163076850530768505Humanname
407486828CV3479765single nucleotide variantNM_014771.4(RNF40):c.2191C>T (p.Arg731Trp)not specified [RCV004665526]uncertain significance163076893130768931Humanname
407486834CV3479766single nucleotide variantNM_014771.4(RNF40):c.1556G>A (p.Arg519Gln)not specified [RCV004665527]uncertain significance163076810730768107Humanname
407486840CV3479767single nucleotide variantNM_014771.4(RNF40):c.1804C>T (p.Arg602Trp)not specified [RCV004665528]uncertain significance163076835530768355Humanname
407486845CV3479769single nucleotide variantNM_014771.4(RNF40):c.2164G>A (p.Ala722Thr)not specified [RCV004665529]uncertain significance163076890430768904Humanname
407486852CV3479770single nucleotide variantNM_014771.4(RNF40):c.1129C>A (p.Leu377Ile)not specified [RCV004665530]uncertain significance163076639430766394Humanname
407508802CV3479771single nucleotide variantNM_014771.4(RNF40):c.2845C>A (p.Pro949Thr)not specified [RCV004672160]uncertain significance163077395330773953Humanname
407486857CV3479774single nucleotide variantNM_017763.6(RNF43):c.1230C>A (p.His410Gln)not specified [RCV004665531]uncertain significance175835854658358546Humanname
408377220CV3501545single nucleotide variantNM_017763.6(RNF43):c.1381G>A (p.Gly461Arg)not provided [RCV004727603]|not specified [RCV005274051]uncertain significance175835839558358395Humanname
408380889CV3501720single nucleotide variantNM_017763.6(RNF43):c.1292G>A (p.Cys431Tyr)not provided [RCV004729248]|not specified [RCV004848010]uncertain significance175835848458358484Humanname
408380918CV3501730single nucleotide variantNM_017763.6(RNF43):c.1244G>A (p.Gly415Asp)not provided [RCV004729258]|not specified [RCV005274052]uncertain significance175835853258358532Humanname
408381709CV3502005single nucleotide variantNM_017763.6(RNF43):c.2006C>T (p.Pro669Leu)not provided [RCV004729533]|not specified [RCV005274053]uncertain significance175835777058357770Humanname
408381771CV3502025single nucleotide variantNM_017763.6(RNF43):c.2027C>T (p.Pro676Leu)not provided [RCV004729553]uncertain significance175835774958357749Humanname
408381869CV3502033single nucleotide variantNM_017763.6(RNF43):c.1052A>G (p.Tyr351Cys)not provided [RCV004729561]uncertain significance175835872458358724Humanname
408389848CV3519075single nucleotide variantNM_017763.6(RNF43):c.2107C>A (p.Pro703Thr)not provided [RCV004762384]uncertain significance175835766958357669Humanname
408388549CV3522714single nucleotide variantNM_017763.6(RNF43):c.1408C>T (p.Pro470Ser)not provided [RCV004769095]|not specified [RCV005269048]uncertain significance175835836858358368Humanname
408380739CV3523643single nucleotide variantNM_017763.6(RNF43):c.1201G>A (p.Glu401Lys)not provided [RCV004766041]uncertain significance175835857558358575Humanname
408386694CV3524182single nucleotide variantNM_017763.6(RNF43):c.1282C>T (p.Pro428Ser)not provided [RCV004768056]|not specified [RCV005269052]uncertain significance175835849458358494Humanname
408388529CV3529012single nucleotide variantNM_017763.6(RNF43):c.1235A>G (p.Tyr412Cys)not provided [RCV004773834]uncertain significance175835854158358541Humanname
596922689CV3530049single nucleotide variantNM_017763.6(RNF43):c.2282A>G (p.His761Arg)not provided [RCV004776648]|not specified [RCV005269066]uncertain significance175835749458357494Humanname
596944594CV3543441single nucleotide variantNM_017763.6(RNF43):c.2224G>A (p.Glu742Lys)not provided [RCV004801562]uncertain significance175835755258357552Humanname
596944605CV3543444single nucleotide variantNM_017763.6(RNF43):c.1057C>G (p.Leu353Val)not provided [RCV004801565]|not specified [RCV005269077]uncertain significance175835871958358719Humanname
596938994CV3549942single nucleotide variantNM_017763.6(RNF43):c.1865C>T (p.Pro622Leu)not provided [RCV004812983]uncertain significance175835791158357911Humanname
597687963CV3590480single nucleotide variantNM_014771.4(RNF40):c.2817C>G (p.Ile939Met)not specified [RCV004858551]uncertain significance163077217830772178Humanname
597755322CV3590483single nucleotide variantNM_014771.4(RNF40):c.1879G>A (p.Val627Ile)not specified [RCV004847587]uncertain significance163076843030768430Humanname
597687987CV3590487single nucleotide variantNM_014771.4(RNF40):c.1694C>T (p.Ala565Val)not specified [RCV004858554]uncertain significance163076824530768245Humanname
597755335CV3590490single nucleotide variantNM_014771.4(RNF40):c.1056G>C (p.Glu352Asp)not specified [RCV004847590]uncertain significance163076622530766225Humanname
597688018CV3590491single nucleotide variantNM_014771.4(RNF40):c.1198A>G (p.Asn400Asp)not specified [RCV004858557]uncertain significance163076646330766463Humanname
597755357CV3590499single nucleotide variantNM_017763.6(RNF43):c.2314G>A (p.Glu772Lys)not specified [RCV004847595]uncertain significance175835498158354981Humanname
597688062CV3590503single nucleotide variantNM_017763.6(RNF43):c.1292G>T (p.Cys431Phe)not specified [RCV004858562]uncertain significance175835848458358484Humanname
597688070CV3590505single nucleotide variantNM_017763.6(RNF43):c.2276A>C (p.Tyr759Ser)not specified [RCV004858563]uncertain significance175835750058357500Humanname
597688092CV3590508single nucleotide variantNM_017763.6(RNF43):c.1844G>A (p.Cys615Tyr)not specified [RCV004858565]uncertain significance175835793258357932Humanname
597688102CV3590510single nucleotide variantNM_017763.6(RNF43):c.1390A>C (p.Ser464Arg)not specified [RCV004858566]uncertain significance175835838658358386Humanname
597755383CV3590514single nucleotide variantNM_017763.6(RNF43):c.1286C>G (p.Ala429Gly)not specified [RCV004847601]uncertain significance175835849058358490Humanname
597755402CV3590526single nucleotide variantNM_017763.6(RNF43):c.1424C>T (p.Ser475Phe)not specified [RCV004847606]uncertain significance175835835258358352Humanname
597755407CV3590528single nucleotide variantNM_017763.6(RNF43):c.2344G>C (p.Ala782Pro)not specified [RCV004847607]uncertain significance175835495158354951Humanname
597688231CV3590531single nucleotide variantNM_017763.6(RNF43):c.1201G>C (p.Glu401Gln)not specified [RCV004858579]uncertain significance175835857558358575Humanname
597755416CV3590532single nucleotide variantNM_017763.6(RNF43):c.1856T>G (p.Leu619Arg)not specified [RCV004847609]uncertain significance175835792058357920Humanname
597688239CV3590533single nucleotide variantNM_017763.6(RNF43):c.1372C>G (p.Leu458Val)not specified [RCV004858580]uncertain significance175835840458358404Humanname
597688266CV3590536single nucleotide variantNM_017763.6(RNF43):c.2126G>A (p.Arg709Lys)not specified [RCV004858583]uncertain significance175835765058357650Humanname
597688276CV3590537single nucleotide variantNM_017763.6(RNF43):c.1171C>A (p.Pro391Thr)not specified [RCV004858584]uncertain significance175835860558358605Humanname
597688293CV3590541single nucleotide variantNM_017763.6(RNF43):c.1855C>T (p.Leu619Phe)not specified [RCV004858586]uncertain significance175835792158357921Humanname
597755428CV3590542single nucleotide variantNM_017763.6(RNF43):c.1151G>A (p.Gly384Asp)not specified [RCV004847612]uncertain significance175835862558358625Humanname
597755432CV3590543single nucleotide variantNM_017763.6(RNF43):c.2290G>A (p.Val764Met)not specified [RCV004847613]uncertain significance175835748658357486Humanname
597688309CV3590547single nucleotide variantNM_017763.6(RNF43):c.1826G>A (p.Arg609Gln)Sessile serrated polyposis cancer syndrome [RCV005392910]|not specified [RCV004858588]likely benign|uncertain significance175835795058357950Human1name
597688325CV3590550single nucleotide variantNM_017763.6(RNF43):c.2209C>G (p.Pro737Ala)not specified [RCV004858590]uncertain significance175835756758357567Humanname
597755448CV3590551single nucleotide variantNM_017763.6(RNF43):c.1666C>G (p.His556Asp)not specified [RCV004847617]uncertain significance175835811058358110Humanname
597688336CV3590553single nucleotide variantNM_017763.6(RNF43):c.2210C>A (p.Pro737Gln)not specified [RCV004858591]uncertain significance175835756658357566Humanname
597688384CV3590563single nucleotide variantNM_017763.6(RNF43):c.1638C>A (p.Ser546Arg)not specified [RCV004858596]uncertain significance175835813858358138Humanname
597755483CV3590569single nucleotide variantNM_014901.5(RNF44):c.1291G>A (p.Ala431Thr)not specified [RCV004847626]uncertain significance5176529036176529036Humanname
597770978CV3705360single nucleotide variantNM_017763.6(RNF43):c.2243G>C (p.Ser748Thr)Sessile serrated polyposis cancer syndrome [RCV005020538]uncertain significance175835753358357533Human1name
597770983CV3705362single nucleotide variantNM_017763.6(RNF43):c.1800A>C (p.Arg600Ser)Sessile serrated polyposis cancer syndrome [RCV005020539]uncertain significance175835797658357976Human1name
597633431CV3705363single nucleotide variantNM_017763.6(RNF43):c.1273T>C (p.Ser425Pro)Sessile serrated polyposis cancer syndrome [RCV005023825]uncertain significance175835850358358503Human1name
597633437CV3705364single nucleotide variantNM_017763.6(RNF43):c.1199G>T (p.Gly400Val)Sessile serrated polyposis cancer syndrome [RCV005023826]uncertain significance175835857758358577Human1name
597881686CV3744942single nucleotide variantNM_017763.6(RNF43):c.2242A>G (p.Ser748Gly)Sessile serrated polyposis cancer syndrome [RCV005392951]|not provided [RCV005069967]uncertain significance175835753458357534Human1name
597969773CV3753451single nucleotide variantNM_017763.6(RNF43):c.1814C>T (p.Ala605Val)not provided [RCV005083936]uncertain significance175835796258357962Humanname
597943923CV3754875single nucleotide variantNM_017763.6(RNF43):c.1837C>G (p.Pro613Ala)not provided [RCV005078064]uncertain significance175835793958357939Humanname
597955416CV3757560single nucleotide variantNM_017763.6(RNF43):c.1441A>G (p.Asn481Asp)not provided [RCV005080226]uncertain significance175835833558358335Humanname
597833510CV3760452single nucleotide variantNM_017763.6(RNF43):c.1162C>T (p.His388Tyr)not provided [RCV005085195]uncertain significance175835861458358614Humanname
597888064CV3787677single nucleotide variantNM_017763.6(RNF43):c.1531T>G (p.Cys511Gly)not provided [RCV005125243]uncertain significance175835824558358245Humanname
597958190CV3796931single nucleotide variantNM_017763.6(RNF43):c.1468G>C (p.Val490Leu)not provided [RCV005137828]uncertain significance175835830858358308Humanname
597958603CV3797281single nucleotide variantNM_017763.6(RNF43):c.1850G>A (p.Arg617Lys)not provided [RCV005137968]uncertain significance175835792658357926Humanname
597839453CV3824994single nucleotide variantNM_017763.6(RNF43):c.1565T>G (p.Met522Arg)not provided [RCV005171858]uncertain significance175835821158358211Humanname
597911223CV3826104single nucleotide variantNM_017763.6(RNF43):c.1442A>T (p.Asn481Ile)not provided [RCV005182840]uncertain significance175835833458358334Humanname
597961539CV3840762single nucleotide variantNM_017763.6(RNF43):c.1708G>A (p.Gly570Ser)Sessile serrated polyposis cancer syndrome [RCV005392996]|not provided [RCV005193055]|not specified [RCV005269207]uncertain significance175835806858358068Human1name
597963757CV3841424single nucleotide variantNM_017763.6(RNF43):c.1555C>T (p.Arg519Ter)not provided [RCV005193527]uncertain significance175835822158358221Humanname
597951580CV3843343single nucleotide variantNM_017763.6(RNF43):c.1760C>T (p.Pro587Leu)not provided [RCV005190393]uncertain significance175835801658358016Humanname
597953401CV3843975single nucleotide variantNM_017763.6(RNF43):c.2045C>T (p.Pro682Leu)not provided [RCV005190837]uncertain significance175835773158357731Humanname
597868759CV3858364single nucleotide variantNM_017763.6(RNF43):c.1072C>A (p.Leu358Met)not provided [RCV005197107]uncertain significance175835870458358704Humanname
598124106CV3881260single nucleotide variantNM_017763.6(RNF43):c.2227G>A (p.Gly743Arg)not specified [RCV005231684]uncertain significance175835754958357549Humanname
598124107CV3881261single nucleotide variantNM_017763.6(RNF43):c.1111C>G (p.Arg371Gly)not specified [RCV005231685]uncertain significance175835866558358665Humanname
598129155CV3888448single nucleotide variantNM_017763.6(RNF43):c.2212C>T (p.His738Tyr)not provided [RCV005244622]uncertain significance175835756458357564Humanname
598129198CV3888491single nucleotide variantNM_017763.6(RNF43):c.1246T>A (p.Trp416Arg)not provided [RCV005244665]uncertain significance175835853058358530Humanname
598202677CV3896522single nucleotide variantNM_017763.6(RNF43):c.1961G>A (p.Arg654Lys)Hyperplastic polyposis syndrome [RCV005356751]|not specified [RCV005269253]uncertain significance175835781558357815Humanname
598203761CV3896525single nucleotide variantNM_017763.6(RNF43):c.2315A>C (p.Glu772Ala)Hyperplastic polyposis syndrome [RCV005356754]uncertain significance175835498058354980Humanname
598205427CV3909679single nucleotide variantNM_014771.4(RNF40):c.1888G>A (p.Ala630Thr)not specified [RCV005269698]uncertain significance163076843930768439Humanname
598205442CV3909681single nucleotide variantNM_014771.4(RNF40):c.1189C>G (p.Leu397Val)not specified [RCV005269700]uncertain significance163076645430766454Humanname
598205447CV3909682single nucleotide variantNM_014771.4(RNF40):c.2326C>A (p.Leu776Ile)not specified [RCV005269701]uncertain significance163076926430769264Humanname
598205454CV3909683single nucleotide variantNM_014771.4(RNF40):c.1996C>G (p.Gln666Glu)not specified [RCV005269702]uncertain significance163076863530768635Humanname
598205468CV3909685single nucleotide variantNM_014771.4(RNF40):c.1850G>A (p.Arg617Gln)not specified [RCV005269704]uncertain significance163076840130768401Humanname
598205475CV3909686single nucleotide variantNM_014771.4(RNF40):c.2661C>G (p.Ile887Met)not specified [RCV005269705]uncertain significance163077190730771907Humanname
598205482CV3909687single nucleotide variantNM_014771.4(RNF40):c.2046G>T (p.Glu682Asp)not specified [RCV005269706]uncertain significance163076868530768685Humanname
598205532CV3909694single nucleotide variantNM_017763.6(RNF43):c.1340G>A (p.Gly447Glu)not specified [RCV005269713]likely benign175835843658358436Humanname
598205589CV3909702single nucleotide variantNM_017763.6(RNF43):c.1588C>T (p.Pro530Ser)not specified [RCV005269721]uncertain significance175835818858358188Humanname
598205605CV3909704single nucleotide variantNM_017763.6(RNF43):c.1283C>T (p.Pro428Leu)not specified [RCV005269723]uncertain significance175835849358358493Humanname
598205612CV3909705single nucleotide variantNM_017763.6(RNF43):c.1317G>T (p.Arg439Ser)not specified [RCV005269724]uncertain significance175835845958358459Humanname
598205626CV3909707single nucleotide variantNM_017763.6(RNF43):c.1991C>A (p.Thr664Asn)not specified [RCV005269726]uncertain significance175835778558357785Humanname
598205650CV3909710single nucleotide variantNM_017763.6(RNF43):c.2117T>G (p.Leu706Arg)not specified [RCV005269729]uncertain significance175835765958357659Humanname
598205693CV3909715single nucleotide variantNM_017763.6(RNF43):c.1623A>C (p.Glu541Asp)not specified [RCV005269734]uncertain significance175835815358358153Humanname
598205720CV3909719single nucleotide variantNM_017763.6(RNF43):c.2218C>A (p.Pro740Thr)not specified [RCV005269738]uncertain significance175835755858357558Humanname
598205726CV3909720single nucleotide variantNM_017763.6(RNF43):c.1459C>G (p.Leu487Val)not specified [RCV005269739]uncertain significance175835831758358317Humanname
598205733CV3909721single nucleotide variantNM_017763.6(RNF43):c.1149G>A (p.Met383Ile)not specified [RCV005269740]uncertain significance175835862758358627Humanname
598205740CV3909722single nucleotide variantNM_017763.6(RNF43):c.1249G>A (p.Gly417Arg)not specified [RCV005269741]uncertain significance175835852758358527Humanname
598205746CV3909723single nucleotide variantNM_017763.6(RNF43):c.2260G>A (p.Gly754Ser)not specified [RCV005269742]uncertain significance175835751658357516Humanname
598205753CV3909724single nucleotide variantNM_017763.6(RNF43):c.1901C>T (p.Pro634Leu)not specified [RCV005269743]likely benign175835787558357875Humanname
598205770CV3909727single nucleotide variantNM_017763.6(RNF43):c.1750C>G (p.Arg584Gly)not specified [RCV005269746]uncertain significance175835802658358026Humanname
598205777CV3909728single nucleotide variantNM_017763.6(RNF43):c.1088G>T (p.Arg363Leu)not specified [RCV005269747]uncertain significance175835868858358688Humanname
598205783CV3909729single nucleotide variantNM_017763.6(RNF43):c.2321A>T (p.Glu774Val)not specified [RCV005269748]uncertain significance175835497458354974Humanname
598205790CV3909730single nucleotide variantNM_017763.6(RNF43):c.2150C>A (p.Pro717His)not specified [RCV005269749]uncertain significance175835762658357626Humanname
598205810CV3909733single nucleotide variantNM_017763.6(RNF43):c.1007G>T (p.Gly336Val)not specified [RCV005269752]uncertain significance175835876958358769Humanname
598205818CV3909734single nucleotide variantNM_017763.6(RNF43):c.2252C>T (p.Thr751Ile)not specified [RCV005269753]uncertain significance175835752458357524Humanname
598205833CV3909736single nucleotide variantNM_017763.6(RNF43):c.1625C>T (p.Thr542Ile)not specified [RCV005269755]uncertain significance175835815158358151Humanname
598205874CV3909742single nucleotide variantNM_017763.6(RNF43):c.1322C>T (p.Pro441Leu)not specified [RCV005269761]uncertain significance175835845458358454Humanname
598205916CV3909749single nucleotide variantNM_017763.6(RNF43):c.1430A>T (p.Asp477Val)not specified [RCV005269768]uncertain significance175835834658358346Humanname
598205928CV3909751single nucleotide variantNM_017763.6(RNF43):c.1571C>A (p.Pro524His)not specified [RCV005269770]uncertain significance175835820558358205Humanname
598206021CV3909766single nucleotide variantNM_017763.6(RNF43):c.1671C>A (p.His557Gln)not specified [RCV005269785]uncertain significance175835810558358105Humanname
598206028CV3909767single nucleotide variantNM_017763.6(RNF43):c.1549C>T (p.Pro517Ser)not specified [RCV005269786]uncertain significance175835822758358227Humanname
598206034CV3909768single nucleotide variantNM_017763.6(RNF43):c.1481G>T (p.Ser494Ile)not specified [RCV005269787]uncertain significance175835829558358295Humanname
598206049CV3909770single nucleotide variantNM_017763.6(RNF43):c.1663C>T (p.His555Tyr)not specified [RCV005269789]uncertain significance175835811358358113Humanname
598206069CV3909773single nucleotide variantNM_017763.6(RNF43):c.1034A>G (p.His345Arg)not specified [RCV005269792]uncertain significance175835874258358742Humanname
598206081CV3909775single nucleotide variantNM_017763.6(RNF43):c.2338G>A (p.Glu780Lys)not specified [RCV005269794]uncertain significance175835495758354957Humanname
598206087CV3909776single nucleotide variantNM_017763.6(RNF43):c.1602C>G (p.Asp534Glu)not specified [RCV005269795]uncertain significance175835817458358174Humanname
598206094CV3909777single nucleotide variantNM_017763.6(RNF43):c.1732T>C (p.Ser578Pro)not specified [RCV005269796]uncertain significance175835804458358044Humanname
598206101CV3909778single nucleotide variantNM_017763.6(RNF43):c.2165C>T (p.Ser722Leu)not specified [RCV005269797]uncertain significance175835761158357611Humanname
598206133CV3909783single nucleotide variantNM_017763.6(RNF43):c.1359A>T (p.Glu453Asp)not specified [RCV005269802]uncertain significance175835841758358417Humanname
598206196CV3909792single nucleotide variantNM_017763.6(RNF43):c.1922A>G (p.Asn641Ser)not specified [RCV005269811]likely benign175835785458357854Humanname
598206214CV3909795single nucleotide variantNM_017763.6(RNF43):c.2023C>T (p.His675Tyr)not specified [RCV005269814]uncertain significance175835775358357753Humanname
598206270CV3909804single nucleotide variantNM_017763.6(RNF43):c.2186T>C (p.Leu729Pro)not specified [RCV005269823]uncertain significance175835759058357590Humanname
598206276CV3909805single nucleotide variantNM_017763.6(RNF43):c.2060G>C (p.Ser687Thr)not specified [RCV005269824]uncertain significance175835771658357716Humanname
598206283CV3909806single nucleotide variantNM_017763.6(RNF43):c.1367G>A (p.Gly456Glu)not specified [RCV005269825]uncertain significance175835840958358409Humanname
598206292CV3909808single nucleotide variantNM_017763.6(RNF43):c.2303A>C (p.Gln768Pro)not specified [RCV005269827]uncertain significance175835747358357473Humanname
598206312CV3909811single nucleotide variantNM_017763.6(RNF43):c.2149C>T (p.Pro717Ser)not specified [RCV005269830]uncertain significance175835762758357627Humanname
598206343CV3909816single nucleotide variantNM_017763.6(RNF43):c.1927C>G (p.Gln643Glu)not specified [RCV005269835]uncertain significance175835784958357849Humanname
598206380CV3909822single nucleotide variantNM_017763.6(RNF43):c.2121C>G (p.Asp707Glu)not specified [RCV005269841]uncertain significance175835765558357655Humanname
598206386CV3909823single nucleotide variantNM_017763.6(RNF43):c.2120A>C (p.Asp707Ala)not specified [RCV005269842]uncertain significance175835765658357656Humanname
598206427CV3909830single nucleotide variantNM_014901.5(RNF44):c.1247C>T (p.Thr416Met)not specified [RCV005269849]uncertain significance5176529080176529080Humanname
598176827CV4008194single nucleotide variantNM_017763.6(RNF43):c.2233T>C (p.Ser745Pro)Sessile serrated polyposis cancer syndrome [RCV005393710]uncertain significance175835754358357543Human1name
598176834CV4008195single nucleotide variantNM_017763.6(RNF43):c.2306C>G (p.Pro769Arg)Sessile serrated polyposis cancer syndrome [RCV005393711]uncertain significance175835747058357470Human1name
26919428CV845669single nucleotide variantNM_017763.6(RNF43):c.2279C>T (p.Pro760Leu)Sessile serrated polyposis cancer syndrome [RCV003467741]|not provided [RCV001045522]|not specified [RCV004031400]uncertain significance175835749758357497Human1name
26921748CV845670single nucleotide variantNM_017763.6(RNF43):c.2102G>C (p.Cys701Ser)not provided [RCV001050662]|not specified [RCV004031570]uncertain significance175835767458357674Humanname
26891398CV845671single nucleotide variantNM_017763.6(RNF43):c.1705C>T (p.Pro569Ser)Hyperplastic polyposis syndrome [RCV005367698]|Sessile serrated polyposis cancer syndrome [RCV003467809]|not provided [RCV001060447]|not specified [RCV004031920]uncertain significance175835807158358071Human1name
26912989CV845672single nucleotide variantNM_017763.6(RNF43):c.1675A>C (p.Lys559Gln)Sessile serrated polyposis cancer syndrome [RCV003467699]|not provided [RCV001035037]|not specified [RCV002268414]uncertain significance175835810158358101Human1name
26913007CV845673single nucleotide variantNM_017763.6(RNF43):c.1564A>C (p.Met522Leu)not provided [RCV001035057]|not specified [RCV005232068]conflicting interpretations of pathogenicity|uncertain significance175835821258358212Humanname
26884492CV845674single nucleotide variantNM_017763.6(RNF43):c.1491C>A (p.Phe497Leu)Sessile serrated polyposis cancer syndrome [RCV003467765]|not provided [RCV001051900]|not specified [RCV004847772]uncertain significance175835828558358285Human1name
26913588CV845676single nucleotide variantNM_017763.6(RNF43):c.1405G>A (p.Gly469Arg)not provided [RCV001036126]|not specified [RCV005268854]uncertain significance175835837158358371Humanname
26890522CV845677single nucleotide variantNM_017763.6(RNF43):c.1157G>A (p.Arg386Gln)Sessile serrated polyposis cancer syndrome [RCV003467800]|not provided [RCV001059393]|not specified [RCV004031880]uncertain significance175835861958358619Human1name
26905041CV845678single nucleotide variantNM_017763.6(RNF43):c.1111C>T (p.Arg371Ter)Sessile serrated polyposis cancer syndrome [RCV003469268]|not provided [RCV001071513]|not specified [RCV005268902]conflicting interpretations of pathogenicity|uncertain significance175835866558358665Human1name
38460672CV938044single nucleotide variantNM_017763.6(RNF43):c.1967G>T (p.Arg656Met)not provided [RCV001211872]uncertain significance175835780958357809Humanname
38468706CV938045single nucleotide variantNM_017763.6(RNF43):c.1210C>T (p.Arg404Cys)Sessile serrated polyposis cancer syndrome [RCV003469322]|not provided [RCV001202252]|not specified [RCV003321806]uncertain significance175835856658358566Human1name
38469988CV950050single nucleotide variantNM_017763.6(RNF43):c.2294T>C (p.Leu765Pro)Sessile serrated polyposis cancer syndrome [RCV003469411]|not provided [RCV001230863]|not specified [RCV005268988]likely benign|uncertain significance175835748258357482Human1name
38483947CV950051single nucleotide variantNM_017763.6(RNF43):c.1969C>T (p.Arg657Trp)Hyperplastic polyposis syndrome [RCV005367782]|Sessile serrated polyposis cancer syndrome [RCV003469435]|not provided [RCV001236142]|not specified [RCV003493828]conflicting interpretations of pathogenicity|uncertain significance175835780758357807Human1name
38489740CV950052single nucleotide variantNM_017763.6(RNF43):c.1474G>A (p.Gly492Ser)Sessile serrated polyposis cancer syndrome [RCV003469447]|not provided [RCV001238541]|not specified [RCV004847788]uncertain significance175835830258358302Human1name
38477230CV950053single nucleotide variantNM_017763.6(RNF43):c.1238C>T (p.Ala413Val)not provided [RCV001233403]|not specified [RCV005268993]uncertain significance175835853858358538Humanname
38495006CV950054single nucleotide variantNM_017763.6(RNF43):c.1211G>A (p.Arg404His)Hyperplastic polyposis syndrome [RCV005359967]|not provided [RCV001225445]|not specified [RCV005268978]likely benign|uncertain significance175835856558358565Humanname
38481524CV950055single nucleotide variantNM_017763.6(RNF43):c.1166G>A (p.Arg389His)not provided [RCV001235146]|not specified [RCV005268999]likely benign|uncertain significance175835861058358610Humanname
38495732CV950056single nucleotide variantNM_017763.6(RNF43):c.1114C>T (p.Pro372Ser)Hyperplastic polyposis syndrome [RCV005359969]|Sessile serrated polyposis cancer syndrome [RCV003389068]|not provided [RCV001225914]|not specified [RCV002268457]likely benign|conflicting interpretations of pathogenicity|uncertain significance175835866258358662Human1name
38482641CV950057single nucleotide variantNM_017763.6(RNF43):c.1087C>T (p.Arg363Trp)Sessile serrated polyposis cancer syndrome [RCV004570594]|not provided [RCV001235604]|not specified [RCV005269001]likely benign|uncertain significance175835868958358689Human1name
38459495CV958203single nucleotide variantNM_017763.6(RNF43):c.1885G>C (p.Ala629Pro)not provided [RCV001246565]uncertain significance175835789158357891Humanname