| 597687935 | CV3590477 | single nucleotide variant | NM_002938.5(RNF4):c.17G>A (p.Arg6His) | not specified [RCV004858548] | uncertain significance | 4 | 2497014 | 2497014 | Human | | name |
| 156387555 | CV2221545 | single nucleotide variant | NM_002938.5(RNF4):c.47C>T (p.Ala16Val) | not specified [RCV004096812] | uncertain significance | 4 | 2497044 | 2497044 | Human | | name |
| 156345015 | CV2372854 | single nucleotide variant | NM_002938.5(RNF4):c.74C>T (p.Ser25Phe) | not specified [RCV004222036] | uncertain significance | 4 | 2497071 | 2497071 | Human | | name |
| 401750108 | CV2695941 | single nucleotide variant | NM_002938.5(RNF4):c.70A>C (p.Thr24Pro) | not specified [RCV004308211] | uncertain significance | 4 | 2497067 | 2497067 | Human | | name |
| 407508795 | CV3479763 | single nucleotide variant | NM_002938.5(RNF4):c.91T>G (p.Leu31Val) | not specified [RCV004672158] | uncertain significance | 4 | 2497088 | 2497088 | Human | | name |
| 597687945 | CV3590478 | single nucleotide variant | NM_002938.5(RNF4):c.435T>C (p.Asn145=) | not specified [RCV004858549] | likely benign | 4 | 2513681 | 2513681 | Human | | name |
| 156232551 | CV2346122 | single nucleotide variant | NM_002938.5(RNF4):c.234G>T (p.Arg78Ser) | not specified [RCV004201585] | uncertain significance | 4 | 2512457 | 2512457 | Human | | name |
| 401894166 | CV2770374 | single nucleotide variant | NM_002938.5(RNF4):c.296A>T (p.Glu99Val) | not specified [RCV004358023] | uncertain significance | 4 | 2512519 | 2512519 | Human | | name |
| 407486818 | CV3479762 | single nucleotide variant | NM_002938.5(RNF4):c.289G>A (p.Asp97Asn) | not specified [RCV004665524] | uncertain significance | 4 | 2512512 | 2512512 | Human | | name |
| 597755309 | CV3590474 | single nucleotide variant | NM_002938.5(RNF4):c.161T>C (p.Leu54Ser) | not specified [RCV004847584] | uncertain significance | 4 | 2500695 | 2500695 | Human | | name |
| 598205412 | CV3909677 | single nucleotide variant | NM_002938.5(RNF4):c.106A>G (p.Ile36Val) | not specified [RCV005269696] | uncertain significance | 4 | 2497103 | 2497103 | Human | | name |
| 155961731 | CV2311944 | single nucleotide variant | NM_002938.5(RNF4):c.343A>C (p.Asn115His) | not specified [RCV004170766] | uncertain significance | 4 | 2512566 | 2512566 | Human | | name |
| 156269464 | CV2379285 | single nucleotide variant | NM_002938.5(RNF4):c.305G>A (p.Arg102Lys) | not specified [RCV004223754] | uncertain significance | 4 | 2512528 | 2512528 | Human | | name |
| 401753649 | CV2722539 | single nucleotide variant | NM_002938.5(RNF4):c.365C>T (p.Thr122Ile) | not specified [RCV004322921] | uncertain significance | 4 | 2512588 | 2512588 | Human | | name |
| 407486812 | CV3479760 | single nucleotide variant | NM_002938.5(RNF4):c.506A>G (p.Asn169Ser) | not specified [RCV004665523] | uncertain significance | 4 | 2513752 | 2513752 | Human | | name |
| 597687928 | CV3590475 | single nucleotide variant | NM_002938.5(RNF4):c.562A>G (p.Ile188Val) | not specified [RCV004858547] | uncertain significance | 4 | 2513808 | 2513808 | Human | | name |
| 597755313 | CV3590476 | single nucleotide variant | NM_002938.5(RNF4):c.440G>A (p.Arg147His) | not specified [RCV004847585] | uncertain significance | 4 | 2513686 | 2513686 | Human | | name |
| 598205420 | CV3909678 | single nucleotide variant | NM_002938.5(RNF4):c.524C>G (p.Thr175Ser) | not specified [RCV005269697] | uncertain significance | 4 | 2513770 | 2513770 | Human | | name |
| 153302916 | CV1690006 | single nucleotide variant | NM_017763.6(RNF43):c.-9G>A | not specified [RCV002268906] | likely benign | 17 | 58415586 | 58415586 | Human | | name |
| 408365759 | CV3500048 | single nucleotide variant | NM_017763.6(RNF43):c.*8A>G | not provided [RCV004722091] | uncertain significance | 17 | 58354935 | 58354935 | Human | | name |
| 401797979 | CV2741192 | single nucleotide variant | NM_017763.6(RNF43):c.-10A>G | not specified [RCV003322355] | uncertain significance | 17 | 58415587 | 58415587 | Human | | name |
| 150541774 | CV1306543 | single nucleotide variant | NM_017763.6(RNF43):c.*216C>T | not provided [RCV001768166] | likely benign | 17 | 58354727 | 58354727 | Human | | name |
| 126758786 | CV1033442 | single nucleotide variant | NM_017763.6(RNF43):c.253-3C>A | not provided [RCV001339944] | uncertain significance | 17 | 58371036 | 58371036 | Human | | name |
| 126919638 | CV1050426 | single nucleotide variant | NM_017763.6(RNF43):c.687+5G>T | not provided [RCV001362411] | uncertain significance | 17 | 58362539 | 58362539 | Human | | name |
| 126924743 | CV1050427 | single nucleotide variant | NM_017763.6(RNF43):c.687+2T>C | not provided [RCV001367380] | uncertain significance | 17 | 58362542 | 58362542 | Human | | name |
| 127254621 | CV1083311 | single nucleotide variant | NM_017763.6(RNF43):c.953-5T>C | not provided [RCV001400840] | likely benign | 17 | 58358828 | 58358828 | Human | | name |
| 127250958 | CV1083315 | single nucleotide variant | NM_017763.6(RNF43):c.376-4G>A | not provided [RCV001417683] | likely benign | 17 | 58363604 | 58363604 | Human | | name |
| 151750076 | CV1357343 | single nucleotide variant | NM_017763.6(RNF43):c.688-3C>T | Sessile serrated polyposis cancer syndrome [RCV005014718]|not provided [RCV001872169]|not specified [RCV005271413] | uncertain significance | 17 | 58360947 | 58360947 | Human | 1 | name |
| 151798404 | CV1376642 | single nucleotide variant | NM_017763.6(RNF43):c.687+6C>A | not provided [RCV001932077] | uncertain significance | 17 | 58362538 | 58362538 | Human | | name |
| 151790851 | CV1436167 | single nucleotide variant | NM_017763.6(RNF43):c.687+3G>A | not provided [RCV001990065] | uncertain significance | 17 | 58362541 | 58362541 | Human | | name |
| 151764067 | CV1468078 | single nucleotide variant | NM_017763.6(RNF43):c.253-4G>A | not provided [RCV001949485] | likely benign | 17 | 58371037 | 58371037 | Human | | name |
| 152120562 | CV1547409 | single nucleotide variant | NM_017763.6(RNF43):c.953-7T>C | not provided [RCV002081492] | likely benign | 17 | 58358830 | 58358830 | Human | | name |
| 152041692 | CV1553583 | deletion | NM_017763.6(RNF43):c.451-5del | not provided [RCV002088047] | likely benign | 17 | 58363411 | 58363411 | Human | | name |
| 152162523 | CV1624012 | single nucleotide variant | NM_017763.6(RNF43):c.687+9T>C | Sessile serrated polyposis cancer syndrome [RCV005361966]|not provided [RCV002159895] | likely benign | 17 | 58362535 | 58362535 | Human | 1 | name |
| 156223037 | CV2037783 | single nucleotide variant | NM_017763.6(RNF43):c.688-8C>T | not provided [RCV002790700] | likely benign | 17 | 58360952 | 58360952 | Human | | name |
| 155966928 | CV2156103 | single nucleotide variant | NM_017763.6(RNF43):c.952+2T>C | not provided [RCV003015749] | uncertain significance | 17 | 58360147 | 58360147 | Human | | name |
| 156365285 | CV2176917 | single nucleotide variant | NM_017763.6(RNF43):c.952+2T>G | not provided [RCV003049304] | uncertain significance | 17 | 58360147 | 58360147 | Human | | name |
| 401860910 | CV2750313 | single nucleotide variant | NM_017763.6(RNF43):c.952+5G>C | Sessile serrated polyposis cancer syndrome [RCV003333857] | uncertain significance | 17 | 58360144 | 58360144 | Human | 1 | name |
| 402501500 | CV2932330 | single nucleotide variant | NM_017763.6(RNF43):c.376-8C>A | not provided [RCV003574039] | likely benign | 17 | 58363608 | 58363608 | Human | | name |
| 405204199 | CV2986263 | single nucleotide variant | NM_017763.6(RNF43):c.688-7T>C | not provided [RCV003678499] | likely benign|conflicting interpretations of pathogenicity | 17 | 58360951 | 58360951 | Human | | name |
| 405217558 | CV3055686 | duplication | NM_017763.6(RNF43):c.253-9dup | not provided [RCV003732738] | likely benign | 17 | 58371041 | 58371042 | Human | | name |
| 405179068 | CV3060342 | single nucleotide variant | NM_017763.6(RNF43):c.850-3C>T | not provided [RCV003728606] | uncertain significance | 17 | 58360254 | 58360254 | Human | | name |
| 597847493 | CV3792807 | single nucleotide variant | NM_017763.6(RNF43):c.252+2C>G | not provided [RCV005144943] | uncertain significance | 17 | 58415324 | 58415324 | Human | | name |
| 598127351 | CV3882614 | single nucleotide variant | NM_017763.6(RNF43):c.375+2T>C | not provided [RCV005234144] | not provided | 17 | 58370909 | 58370909 | Human | | name |
| 598205940 | CV3909753 | single nucleotide variant | NM_017763.6(RNF43):c.451-5T>C | not specified [RCV005269772] | uncertain significance | 17 | 58363411 | 58363411 | Human | | name |
| 127242520 | CV1083312 | single nucleotide variant | NM_017763.6(RNF43):c.952+10G>T | not provided [RCV001393353] | likely benign | 17 | 58360139 | 58360139 | Human | | name |
| 150339732 | CV1167693 | single nucleotide variant | NM_017763.6(RNF43):c.582+30C>T | not provided [RCV001534519]|not specified [RCV002268508] | benign|likely benign | 17 | 58363245 | 58363245 | Human | | name |
| 150498613 | CV1224166 | single nucleotide variant | NM_005785.4(RNF41):c.91-137A>G | not provided [RCV001620279] | benign | 12 | 56210705 | 56210705 | Human | | name |
| 150500824 | CV1224865 | single nucleotide variant | NM_005785.4(RNF41):c.-23-73G>A | not provided [RCV001620697] | benign | 12 | 56214143 | 56214143 | Human | | name |
| 150470215 | CV1268225 | single nucleotide variant | NM_005785.4(RNF41):c.91-121G>A | not provided [RCV001695089] | benign | 12 | 56210689 | 56210689 | Human | | name |
| 150456650 | CV1269105 | single nucleotide variant | NM_017763.6(RNF43):c.582+94C>A | not provided [RCV001692929] | benign | 17 | 58363181 | 58363181 | Human | | name |
| 151756494 | CV1490734 | single nucleotide variant | NM_017763.6(RNF43):c.253-10C>G | not provided [RCV001948665] | likely benign|uncertain significance | 17 | 58371043 | 58371043 | Human | | name |
| 152088678 | CV1527576 | single nucleotide variant | NM_017763.6(RNF43):c.850-10T>A | not provided [RCV002093868] | likely benign | 17 | 58360261 | 58360261 | Human | | name |
| 152088792 | CV1527658 | single nucleotide variant | NM_017763.6(RNF43):c.450+19G>A | not provided [RCV002093883]|not specified [RCV002268622] | likely benign | 17 | 58363507 | 58363507 | Human | | name |
| 152143566 | CV1538424 | single nucleotide variant | NM_017763.6(RNF43):c.849+20T>C | not provided [RCV002219696] | likely benign | 17 | 58360763 | 58360763 | Human | | name |
| 152127341 | CV1545042 | single nucleotide variant | NM_017763.6(RNF43):c.850-12C>T | not provided [RCV002155053] | likely benign | 17 | 58360263 | 58360263 | Human | | name |
| 152076310 | CV1551428 | single nucleotide variant | NM_017763.6(RNF43):c.582+14A>T | not provided [RCV002192456] | likely benign | 17 | 58363261 | 58363261 | Human | | name |
| 152154522 | CV1556403 | single nucleotide variant | NM_017763.6(RNF43):c.451-13T>C | not provided [RCV002122228] | likely benign | 17 | 58363419 | 58363419 | Human | | name |
| 152154590 | CV1556445 | single nucleotide variant | NM_017763.6(RNF43):c.849+19T>C | not provided [RCV002122237]|not specified [RCV002268612] | likely benign | 17 | 58360764 | 58360764 | Human | | name |
| 152154776 | CV1556521 | single nucleotide variant | NM_017763.6(RNF43):c.952+15A>G | not provided [RCV002122263] | likely benign | 17 | 58360134 | 58360134 | Human | | name |
| 152112351 | CV1573303 | single nucleotide variant | NM_017763.6(RNF43):c.953-18C>T | not provided [RCV002215666] | likely benign | 17 | 58358841 | 58358841 | Human | | name |
| 152103268 | CV1574588 | single nucleotide variant | NM_017763.6(RNF43):c.2309-4A>T | not provided [RCV002095807] | likely benign | 17 | 58354990 | 58354990 | Human | | name |
| 152113190 | CV1586644 | single nucleotide variant | NM_017763.6(RNF43):c.687+20T>C | not provided [RCV002197056] | likely benign | 17 | 58362524 | 58362524 | Human | | name |
| 152055886 | CV1590958 | single nucleotide variant | NM_017763.6(RNF43):c.376-18T>C | not provided [RCV002109533] | likely benign | 17 | 58363618 | 58363618 | Human | | name |
| 152120941 | CV1593903 | single nucleotide variant | NM_017763.6(RNF43):c.583-12C>T | Sessile serrated polyposis cancer syndrome [RCV005361957]|not provided [RCV002098139] | benign|likely benign | 17 | 58362660 | 58362660 | Human | 1 | name |
| 152075837 | CV1604424 | single nucleotide variant | NM_017763.6(RNF43):c.375+17C>T | not provided [RCV002092206] | benign | 17 | 58370894 | 58370894 | Human | | name |
| 153302904 | CV1690000 | single nucleotide variant | NM_017763.6(RNF43):c.849+46T>C | not specified [RCV002268900] | likely benign | 17 | 58360737 | 58360737 | Human | | name |
| 153302908 | CV1690002 | single nucleotide variant | NM_017763.6(RNF43):c.688-25A>G | not specified [RCV002268902] | likely benign | 17 | 58360969 | 58360969 | Human | | name |
| 153302910 | CV1690003 | single nucleotide variant | NM_017763.6(RNF43):c.583-37G>C | not specified [RCV002268903] | likely benign | 17 | 58362685 | 58362685 | Human | | name |
| 153302911 | CV1690004 | single nucleotide variant | NM_017763.6(RNF43):c.450+46A>G | not specified [RCV002268904] | likely benign | 17 | 58363480 | 58363480 | Human | | name |
| 155795099 | CV1859023 | single nucleotide variant | NM_017763.6(RNF43):c.2308+1G>T | Sessile serrated polyposis cancer syndrome [RCV002463988] | likely pathogenic | 17 | 58357467 | 58357467 | Human | 1 | name |
| 155799722 | CV1859949 | single nucleotide variant | NM_017763.6(RNF43):c.952+37A>G | not specified [RCV002466193] | likely benign | 17 | 58360112 | 58360112 | Human | | name |
| 155799725 | CV1859951 | single nucleotide variant | NM_017763.6(RNF43):c.583-38C>T | not specified [RCV002466195] | likely benign | 17 | 58362686 | 58362686 | Human | | name |
| 155799727 | CV1859952 | deletion | NM_017763.6(RNF43):c.451-45del | not specified [RCV002466196] | likely benign | 17 | 58363451 | 58363451 | Human | | name |
| 155799729 | CV1859953 | single nucleotide variant | NM_017763.6(RNF43):c.450+30G>T | not specified [RCV002466197] | likely benign | 17 | 58363496 | 58363496 | Human | | name |
| 156316244 | CV1903622 | single nucleotide variant | NM_017763.6(RNF43):c.451-10C>T | not provided [RCV003088736] | likely benign | 17 | 58363416 | 58363416 | Human | | name |
| 156443042 | CV1946223 | single nucleotide variant | NM_017763.6(RNF43):c.849+14T>C | not provided [RCV003113409] | likely benign | 17 | 58360769 | 58360769 | Human | | name |
| 156448418 | CV1950696 | single nucleotide variant | NM_017763.6(RNF43):c.450+13A>G | not provided [RCV003119980] | likely benign | 17 | 58363513 | 58363513 | Human | | name |
| 156448524 | CV1950807 | single nucleotide variant | NM_017763.6(RNF43):c.376-15T>C | not provided [RCV003120086] | likely benign | 17 | 58363615 | 58363615 | Human | | name |
| 156446069 | CV1951096 | single nucleotide variant | NM_017763.6(RNF43):c.253-16C>T | not provided [RCV003117032] | likely benign | 17 | 58371049 | 58371049 | Human | | name |
| 156446100 | CV1951124 | single nucleotide variant | NM_017763.6(RNF43):c.252+13T>G | not provided [RCV003117064] | likely benign | 17 | 58415313 | 58415313 | Human | | name |
| 156211981 | CV1997148 | single nucleotide variant | NM_017763.6(RNF43):c.688-18C>T | not provided [RCV002666878] | likely benign | 17 | 58360962 | 58360962 | Human | | name |
| 156137165 | CV2097409 | single nucleotide variant | NM_017763.6(RNF43):c.687+11T>A | not provided [RCV002890165] | likely benign | 17 | 58362533 | 58362533 | Human | | name |
| 156094906 | CV2102859 | single nucleotide variant | NM_017763.6(RNF43):c.850-11T>G | not provided [RCV002913178] | uncertain significance | 17 | 58360262 | 58360262 | Human | | name |
| 401797869 | CV2741183 | single nucleotide variant | NM_017763.6(RNF43):c.687+40G>A | not specified [RCV003322346] | likely benign | 17 | 58362504 | 58362504 | Human | | name |
| 401797871 | CV2741184 | single nucleotide variant | NM_017763.6(RNF43):c.583-45C>T | not specified [RCV003322347] | likely benign | 17 | 58362693 | 58362693 | Human | | name |
| 401797872 | CV2741185 | single nucleotide variant | NM_017763.6(RNF43):c.582+46T>G | not specified [RCV003322348] | likely benign | 17 | 58363229 | 58363229 | Human | | name |
| 401797876 | CV2741187 | single nucleotide variant | NM_017763.6(RNF43):c.450+21G>T | not specified [RCV003322350] | likely benign | 17 | 58363505 | 58363505 | Human | | name |
| 401797877 | CV2741188 | single nucleotide variant | NM_017763.6(RNF43):c.375+21A>T | not specified [RCV003322351] | likely benign | 17 | 58370890 | 58370890 | Human | | name |
| 401797976 | CV2741189 | single nucleotide variant | NM_017763.6(RNF43):c.252+50T>C | not specified [RCV003322352] | likely benign | 17 | 58415276 | 58415276 | Human | | name |
| 401797978 | CV2741190 | single nucleotide variant | NM_017763.6(RNF43):c.252+49C>T | not specified [RCV003322353] | likely benign | 17 | 58415277 | 58415277 | Human | | name |
| 405225257 | CV3058224 | duplication | NM_017763.6(RNF43):c.376-13dup | not provided [RCV003733853] | likely benign | 17 | 58363612 | 58363613 | Human | | name |
| 405225060 | CV3058371 | deletion | NM_017763.6(RNF43):c.952+18del | not provided [RCV003733899] | likely benign | 17 | 58360131 | 58360131 | Human | | name |
| 405223344 | CV3061278 | single nucleotide variant | NM_017763.6(RNF43):c.687+16T>G | not provided [RCV003733651] | likely benign | 17 | 58362528 | 58362528 | Human | | name |
| 405224734 | CV3061363 | single nucleotide variant | NM_017763.6(RNF43):c.850-13T>C | not provided [RCV003733689] | likely benign | 17 | 58360264 | 58360264 | Human | | name |
| 405187524 | CV3068961 | single nucleotide variant | NM_017763.6(RNF43):c.253-10C>T | not provided [RCV003729410] | likely benign | 17 | 58371043 | 58371043 | Human | | name |
| 405186368 | CV3124365 | single nucleotide variant | NM_017763.6(RNF43):c.687+13G>A | not provided [RCV003820564] | likely benign | 17 | 58362531 | 58362531 | Human | | name |
| 405180688 | CV3159438 | single nucleotide variant | NM_017763.6(RNF43):c.450+20T>C | not provided [RCV003858688] | likely benign | 17 | 58363506 | 58363506 | Human | | name |
| 405236957 | CV3169062 | single nucleotide variant | NM_017763.6(RNF43):c.583-18T>G | not provided [RCV003866341] | uncertain significance | 17 | 58362666 | 58362666 | Human | | name |
| 407488502 | CV3415116 | single nucleotide variant | NM_017763.6(RNF43):c.687+24G>A | not specified [RCV004597452] | likely benign | 17 | 58362520 | 58362520 | Human | | name |
| 407488510 | CV3415117 | single nucleotide variant | NM_017763.6(RNF43):c.583-13G>C | not specified [RCV004597453] | likely benign | 17 | 58362661 | 58362661 | Human | | name |
| 407489795 | CV3415118 | single nucleotide variant | NM_017763.6(RNF43):c.376-14G>C | not specified [RCV004597454] | likely benign | 17 | 58363614 | 58363614 | Human | | name |
| 597964701 | CV3750963 | single nucleotide variant | NM_017763.6(RNF43):c.451-19G>A | not provided [RCV005082525] | uncertain significance | 17 | 58363425 | 58363425 | Human | | name |
| 597954514 | CV3754064 | single nucleotide variant | NM_017763.6(RNF43):c.451-14C>T | not provided [RCV005080107] | likely benign | 17 | 58363420 | 58363420 | Human | | name |
| 597952300 | CV3756600 | single nucleotide variant | NM_017763.6(RNF43):c.253-20A>C | not provided [RCV005079657] | likely benign | 17 | 58371053 | 58371053 | Human | | name |
| 597879400 | CV3810126 | single nucleotide variant | NM_017763.6(RNF43):c.450+15T>C | not provided [RCV005149589] | likely benign | 17 | 58363511 | 58363511 | Human | | name |
| 597948683 | CV3848727 | single nucleotide variant | NM_017763.6(RNF43):c.450+18C>T | not provided [RCV005189664] | likely benign | 17 | 58363508 | 58363508 | Human | | name |
| 597862286 | CV3860520 | single nucleotide variant | NM_017763.6(RNF43):c.2309-1G>C | not provided [RCV005196048] | uncertain significance | 17 | 58354987 | 58354987 | Human | | name |
| 598124108 | CV3881262 | single nucleotide variant | NM_017763.6(RNF43):c.953-14G>C | not specified [RCV005231686] | likely benign | 17 | 58358837 | 58358837 | Human | | name |
| 598124109 | CV3881263 | single nucleotide variant | NM_017763.6(RNF43):c.850-15C>T | not specified [RCV005231687] | likely benign | 17 | 58360266 | 58360266 | Human | | name |
| 598124110 | CV3881264 | single nucleotide variant | NM_017763.6(RNF43):c.375+44G>A | not specified [RCV005231688] | likely benign | 17 | 58370867 | 58370867 | Human | | name |
| 150500479 | CV1224798 | single nucleotide variant | NM_017763.6(RNF43):c.582+162C>T | not provided [RCV001620630] | benign | 17 | 58363113 | 58363113 | Human | | name |
| 150494747 | CV1224952 | single nucleotide variant | NM_017763.6(RNF43):c.2309-29C>T | not provided [RCV001619430]|not specified [RCV002268541] | benign | 17 | 58355015 | 58355015 | Human | | name |
| 150474350 | CV1234436 | single nucleotide variant | NM_005785.4(RNF41):c.602+193T>C | not provided [RCV001651756] | benign | 12 | 56207453 | 56207453 | Human | | name |
| 150453213 | CV1255057 | single nucleotide variant | NM_017763.6(RNF43):c.-385-51T>A | not provided [RCV001668116] | benign | 17 | 58416013 | 58416013 | Human | | name |
| 150506416 | CV1257334 | single nucleotide variant | NM_005785.4(RNF41):c.499-206C>A | not provided [RCV001678173] | benign | 12 | 56207955 | 56207955 | Human | | name |
| 150503046 | CV1257699 | single nucleotide variant | NM_017763.6(RNF43):c.582+110C>T | not provided [RCV001677387] | benign | 17 | 58363165 | 58363165 | Human | | name |
| 150475684 | CV1271227 | single nucleotide variant | NM_017763.6(RNF43):c.849+102A>C | not provided [RCV001696050] | benign | 17 | 58360681 | 58360681 | Human | | name |
| 150446092 | CV1278261 | single nucleotide variant | NM_017763.6(RNF43):c.375+220T>C | not provided [RCV001707404] | benign | 17 | 58370691 | 58370691 | Human | 2 | name |
| 150446092 | CV1278261 | single nucleotide variant | NM_017763.6(RNF43):c.375+220T>C | not provided [RCV001707404] | benign | 17 | 58370691 | 58370692 | Human | 2 | name |
| 150535697 | CV1306995 | single nucleotide variant | NM_017763.6(RNF43):c.687+200C>G | not provided [RCV001759049] | likely benign | 17 | 58362344 | 58362344 | Human | | name |
| 150534583 | CV1308537 | single nucleotide variant | NM_017763.6(RNF43):c.582+172G>A | not provided [RCV001757582] | likely benign | 17 | 58363103 | 58363103 | Human | | name |
| 150532580 | CV1309293 | single nucleotide variant | NM_017763.6(RNF43):c.952+169T>C | not provided [RCV001752974] | likely benign | 17 | 58359980 | 58359980 | Human | | name |
| 152090448 | CV1580830 | single nucleotide variant | NM_017763.6(RNF43):c.2309-15G>A | Hyperplastic polyposis syndrome [RCV005361972]|not provided [RCV002094099]|not specified [RCV004596520] | likely benign | 17 | 58355001 | 58355001 | Human | | name |
| 405135464 | CV3115664 | single nucleotide variant | NM_017763.6(RNF43):c.2309-12C>T | not provided [RCV003816321] | likely benign | 17 | 58354998 | 58354998 | Human | | name |
| 597949421 | CV3852544 | single nucleotide variant | NM_017763.6(RNF43):c.2309-16C>T | not provided [RCV005189622] | likely benign | 17 | 58355002 | 58355002 | Human | | name |
| 12896628 | CV390359 | single nucleotide variant | NM_017763.6(RNF43):c.2309-15G>C | not provided [RCV001672772]|not specified [RCV000455604] | benign | 17 | 58355001 | 58355001 | Human | | name |
| 8628041 | CV83185 | single nucleotide variant | NM_017763.5(RNF43):c.2308+93G>A | Malignant melanoma [RCV000063265] | not provided | 17 | 58357375 | 58357375 | Human | | name |
| 8585463 | CV120050 | single nucleotide variant | NM_017763.5(RNF43):c.252+2833A>G | Lung cancer [RCV000100570] | uncertain significance | 17 | 58412493 | 58412493 | Human | | name |
| 408381693 | CV3502000 | microsatellite | NM_017763.6(RNF43):c.253-12CT[2] | not provided [RCV004729528] | uncertain significance | 17 | 58371038 | 58371041 | Human | | name |
| 598198586 | CV4007198 | microsatellite | NM_017763.6(RNF43):c.376-15TG[4] | Hereditary cancer-predisposing syndrome [RCV005398028] | uncertain significance | 17 | 58363609 | 58363610 | Human | | name |
| 152175283 | CV1602185 | microsatellite | NM_017763.6(RNF43):c.2309-14CT[2] | not provided [RCV002163454] | likely benign|conflicting interpretations of pathogenicity | 17 | 58354995 | 58354996 | Human | | name |
| 150466224 | CV1255704 | microsatellite | NM_005785.4(RNF41):c.91-66_91-65del | not provided [RCV001670338] | benign | 12 | 56210633 | 56210634 | Human | | name |
| 155799723 | CV1859950 | deletion | NM_017763.6(RNF43):c.952+3_952+9del | not specified [RCV002466194] | uncertain significance | 17 | 58360140 | 58360146 | Human | | name |
| 38474912 | CV940421 | deletion | NM_017763.6(RNF43):c.849+3_849+4del | not provided [RCV001204017] | uncertain significance | 17 | 58360779 | 58360780 | Human | | name |
| 156122131 | CV2179526 | deletion | NM_017763.6(RNF43):c.582+2_582+27del | not provided [RCV003039357] | uncertain significance | 17 | 58363248 | 58363273 | Human | | name |
| 153302902 | CV1689999 | duplication | NM_017763.6(RNF43):c.953-34_953-30dup | not specified [RCV002268899] | likely benign | 17 | 58358852 | 58358853 | Human | | name |
| 152035994 | CV1648363 | deletion | NM_017763.6(RNF43):c.2308+20_2308+21del | not provided [RCV002125331] | likely benign | 17 | 58357447 | 58357448 | Human | | name |
| 126732278 | CV1021668 | duplication | NM_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 significance | 17 | 58357799 | 58357800 | Human | 1 | name , alternate_id |
| 126728559 | CV1033441 | deletion | NM_017763.6(RNF43):c.471del (p.Thr158fs) | RNF43-related disorder [RCV004731132]|Sessile serrated polyposis cancer syndrome [RCV004570850]|not provided [RCV001348950]|not specified [RCV005271193] | uncertain significance | 17 | 58363386 | 58363386 | Human | 1 | name , alternate_id |
| 127278036 | CV1083316 | single nucleotide variant | NM_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 significance | 17 | 58370967 | 58370967 | Human | 1 | name , alternate_id |
| 127250409 | CV1105090 | single nucleotide variant | NM_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 significance | 17 | 58357896 | 58357896 | Human | 1 | alternate_id |
| 127262905 | CV1105097 | single nucleotide variant | NM_017763.6(RNF43):c.873C>A (p.Leu291=) | RNF43-related disorder [RCV003930914]|not provided [RCV001428450]|not specified [RCV002268485] | likely benign | 17 | 58360228 | 58360228 | Human | 1 | name , alternate_id |
| 127302454 | CV1158044 | single nucleotide variant | NM_017763.6(RNF43):c.2268A>G (p.Pro756=) | RNF43-related disorder [RCV003956163]|not provided [RCV001515047]|not specified [RCV004857807] | benign|likely benign | 17 | 58357508 | 58357508 | Human | 1 | name , alternate_id |
| 127302194 | CV1158046 | single nucleotide variant | NM_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 significance | 17 | 58357685 | 58357685 | Human | 1 | name , alternate_id |
| 127315776 | CV1158047 | single nucleotide variant | NM_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 significance | 17 | 58357719 | 58357719 | Human | 1 | alternate_id |
| 127307230 | CV1158050 | single nucleotide variant | NM_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 benign | 17 | 58357892 | 58357892 | Human | 1 | name , alternate_id |
| 127309452 | CV1158052 | single nucleotide variant | NM_017763.6(RNF43):c.1821G>A (p.Ser607=) | Hyperplastic polyposis syndrome [RCV005361640]|RNF43-related disorder [RCV003966106]|not provided [RCV001517883]|not specified [RCV003493861] | benign|likely benign | 17 | 58357955 | 58357955 | Human | 1 | name , alternate_id |
| 127308719 | CV1158053 | single nucleotide variant | NM_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 benign | 17 | 58358191 | 58358191 | Human | 1 | alternate_id |
| 127298411 | CV1158058 | single nucleotide variant | NM_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 significance | 17 | 58358766 | 58358766 | Human | 1 | alternate_id |
| 127301514 | CV1158061 | single nucleotide variant | NM_017763.6(RNF43):c.692C>T (p.Pro231Leu) | RNF43-related disorder [RCV003983932]|not provided [RCV001514722]|not specified [RCV004857806] | benign | 17 | 58360940 | 58360940 | Human | 1 | name , alternate_id |
| 127296376 | CV1158064 | single nucleotide variant | NM_017763.6(RNF43):c.576G>A (p.Pro192=) | Hyperplastic polyposis syndrome [RCV005361632]|RNF43-related disorder [RCV003921087]|not provided [RCV001512495]|not specified [RCV001579672] | benign|likely benign | 17 | 58363281 | 58363281 | Human | 1 | name , alternate_id |
| 127309213 | CV1158065 | single nucleotide variant | NM_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 significance | 17 | 58363282 | 58363282 | Human | 2 | name , alternate_id |
| 127321770 | CV1158066 | single nucleotide variant | NM_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 significance | 17 | 58363596 | 58363596 | Human | 2 | name , alternate_id |
| 127296910 | CV1158067 | single nucleotide variant | NM_017763.6(RNF43):c.350G>A (p.Arg117His) | RNF43-related disorder [RCV003980503]|not provided [RCV001512683]|not specified [RCV001700765] | benign | 17 | 58370936 | 58370936 | Human | 12 | name , alternate_id |
| 152038886 | CV1642423 | single nucleotide variant | NM_017763.6(RNF43):c.1044T>C (p.His348=) | RNF43-related disorder [RCV003913666]|not provided [RCV002107438]|not specified [RCV004857886] | likely benign | 17 | 58358732 | 58358732 | Human | 1 | name , alternate_id |
| 405276112 | CV3199602 | single nucleotide variant | NM_017763.6(RNF43):c.2298G>A (p.Ser766=) | RNF43-related disorder [RCV003916993]|not provided [RCV005101716]|not specified [RCV004596612] | likely benign | 17 | 58357478 | 58357478 | Human | 1 | name , alternate_id |
| 38500095 | CV958204 | single nucleotide variant | NM_017763.6(RNF43):c.1190G>A (p.Arg397Gln) | RNF43-related disorder [RCV003405447]|not provided [RCV001245499] | uncertain significance | 17 | 58358586 | 58358586 | Human | 1 | name , alternate_id |
| 405001106 | CV3005523 | single nucleotide variant | NM_017763.6(RNF43):c.6T>C (p.Ser2=) | not provided [RCV003693185]|not specified [RCV005273813] | likely benign | 17 | 58415572 | 58415572 | Human | | name |
| 405246390 | CV3048078 | single nucleotide variant | NM_017763.6(RNF43):c.24G>A (p.Gln8=) | not provided [RCV003720530]|not specified [RCV004857991] | likely benign|conflicting interpretations of pathogenicity | 17 | 58415554 | 58415554 | Human | | name |
| 127293532 | CV1126491 | single nucleotide variant | NM_017763.6(RNF43):c.48G>C (p.Leu16=) | not provided [RCV001476613]|not specified [RCV004857801] | likely benign | 17 | 58415530 | 58415530 | Human | | name |
| 152133178 | CV1544824 | single nucleotide variant | NM_017763.6(RNF43):c.84A>C (p.Thr28=) | not provided [RCV002177074] | likely benign | 17 | 58415494 | 58415494 | Human | | name |
| 156417751 | CV1920366 | single nucleotide variant | NM_017763.6(RNF43):c.42C>G (p.Pro14=) | not provided [RCV002610915] | likely benign | 17 | 58415536 | 58415536 | Human | | name |
| 405237433 | CV3166884 | single nucleotide variant | NM_017763.6(RNF43):c.94C>T (p.Leu32=) | not provided [RCV003854138] | likely benign | 17 | 58415484 | 58415484 | Human | | name |
| 597931798 | CV3789502 | single nucleotide variant | NM_017763.6(RNF43):c.72C>T (p.Gly24=) | not provided [RCV005131783] | likely benign | 17 | 58415506 | 58415506 | Human | | name |
| 598124112 | CV3881266 | single nucleotide variant | NM_017763.6(RNF43):c.33C>G (p.Ala11=) | not specified [RCV005231690] | likely benign | 17 | 58415545 | 58415545 | Human | | name |
| 127269286 | CV1105101 | single nucleotide variant | NM_017763.6(RNF43):c.288C>T (p.Asp96=) | not provided [RCV001430239]|not specified [RCV005271263] | likely benign | 17 | 58370998 | 58370998 | Human | | name |
| 127267693 | CV1105102 | single nucleotide variant | NM_017763.6(RNF43):c.105G>A (p.Ala35=) | not provided [RCV001429774]|not specified [RCV004847820] | likely benign | 17 | 58415473 | 58415473 | Human | | name |
| 127331566 | CV1147385 | single nucleotide variant | NM_017763.6(RNF43):c.261G>A (p.Pro87=) | not provided [RCV001488894]|not specified [RCV004847827] | likely benign | 17 | 58371025 | 58371025 | Human | | name |
| 127298424 | CV1158068 | single nucleotide variant | NM_017763.6(RNF43):c.264G>A (p.Leu88=) | not provided [RCV001513255]|not specified [RCV004857805] | benign|likely benign | 17 | 58371022 | 58371022 | Human | | name |
| 152078147 | CV1666013 | single nucleotide variant | NM_017763.6(RNF43):c.180A>G (p.Lys60=) | not provided [RCV002092501] | likely benign | 17 | 58415398 | 58415398 | Human | | name |
| 156281784 | CV2042884 | single nucleotide variant | NM_017763.6(RNF43):c.126A>G (p.Ala42=) | not provided [RCV002770413] | likely benign | 17 | 58415452 | 58415452 | Human | | name |
| 405041231 | CV3063918 | single nucleotide variant | NM_017763.6(RNF43):c.20T>C (p.Leu7Pro) | not provided [RCV003739882] | uncertain significance | 17 | 58415558 | 58415558 | Human | | name |
| 405203485 | CV3165214 | single nucleotide variant | NM_017763.6(RNF43):c.243A>G (p.Lys81=) | not provided [RCV003861075] | likely benign | 17 | 58415335 | 58415335 | Human | | name |
| 405699092 | CV3313381 | single nucleotide variant | NM_014771.4(RNF40):c.237G>A (p.Lys79=) | not specified [RCV004446757] | likely benign | 16 | 30763222 | 30763222 | Human | | name |
| 405699140 | CV3313390 | single nucleotide variant | NM_005785.4(RNF41):c.16A>G (p.Thr6Ala) | not specified [RCV004446766] | uncertain significance | 12 | 56214032 | 56214032 | Human | | name |
| 597688317 | CV3590549 | single nucleotide variant | NM_017763.6(RNF43):c.144C>T (p.Ile48=) | not specified [RCV004858589] | likely benign | 17 | 58415434 | 58415434 | Human | | name |
| 597858261 | CV3748248 | single nucleotide variant | NM_017763.6(RNF43):c.255C>T (p.Ser85=) | not provided [RCV005067070]|not specified [RCV005269118] | likely benign | 17 | 58371031 | 58371031 | Human | | name |
| 597932246 | CV3837994 | single nucleotide variant | NM_017763.6(RNF43):c.123A>G (p.Ser41=) | not provided [RCV005185963]|not specified [RCV005269211] | likely benign | 17 | 58415455 | 58415455 | Human | | name |
| 597960400 | CV3843644 | single nucleotide variant | NM_017763.6(RNF43):c.25C>G (p.Leu9Val) | not provided [RCV005192681] | uncertain significance | 17 | 58415553 | 58415553 | Human | | name |
| 598205569 | CV3909699 | single nucleotide variant | NM_017763.6(RNF43):c.123A>T (p.Ser41=) | not specified [RCV005269718] | likely benign | 17 | 58415455 | 58415455 | Human | | name |
| 598205934 | CV3909752 | single nucleotide variant | NM_017763.6(RNF43):c.204G>A (p.Val68=) | not specified [RCV005269771] | likely benign | 17 | 58415374 | 58415374 | Human | | name |
| 598206176 | CV3909789 | single nucleotide variant | NM_017763.6(RNF43):c.174A>G (p.Thr58=) | not specified [RCV005269808] | likely benign | 17 | 58415404 | 58415404 | Human | | name |
| 15161579 | CV703644 | variation | NM_014771.4(RNF40):c.2493= (p.Leu831=) | not provided [RCV000947697] | benign | 16 | 30769507 | 30769507 | Human | | name |
| 127264988 | CV1083313 | single nucleotide variant | NM_017763.6(RNF43):c.462G>A (p.Pro154=) | not provided [RCV001403458]|not specified [RCV004857796] | likely benign | 17 | 58363395 | 58363395 | Human | | name |
| 127248415 | CV1105098 | single nucleotide variant | NM_017763.6(RNF43):c.756C>T (p.Cys252=) | not provided [RCV001424924]|not specified [RCV004857799] | likely benign | 17 | 58360876 | 58360876 | Human | | name |
| 127274983 | CV1105100 | single nucleotide variant | NM_017763.6(RNF43):c.471G>T (p.Leu157=) | not provided [RCV001443119]|not specified [RCV004847821] | likely benign | 17 | 58363386 | 58363386 | Human | | name |
| 127294391 | CV1126488 | single nucleotide variant | NM_017763.6(RNF43):c.669C>A (p.Arg223=) | not provided [RCV001459414] | likely benign | 17 | 58362562 | 58362562 | Human | | name |
| 127303237 | CV1126489 | single nucleotide variant | NM_017763.6(RNF43):c.576G>C (p.Pro192=) | not provided [RCV001461886]|not specified [RCV004596459] | likely benign | 17 | 58363281 | 58363281 | Human | | name |
| 127327304 | CV1126490 | single nucleotide variant | NM_017763.6(RNF43):c.405T>C (p.Ser135=) | not provided [RCV001469034]|not specified [RCV005232342] | likely benign | 17 | 58363571 | 58363571 | Human | | name |
| 127301942 | CV1147382 | single nucleotide variant | NM_017763.6(RNF43):c.858G>C (p.Arg286=) | not provided [RCV001478828]|not specified [RCV005271310] | likely benign | 17 | 58360243 | 58360243 | Human | | name |
| 127312119 | CV1147383 | single nucleotide variant | NM_017763.6(RNF43):c.837C>T (p.Phe279=) | Sessile serrated polyposis cancer syndrome [RCV005395041]|not provided [RCV001501812]|not specified [RCV002268494] | likely benign | 17 | 58360795 | 58360795 | Human | 1 | name |
| 127331752 | CV1147384 | single nucleotide variant | NM_017763.6(RNF43):c.504C>T (p.Asp168=) | not provided [RCV001489043] | likely benign | 17 | 58363353 | 58363353 | Human | | name |
| 127308618 | CV1158060 | single nucleotide variant | NM_017763.6(RNF43):c.816T>C (p.Cys272=) | Sessile serrated polyposis cancer syndrome [RCV005395053]|not provided [RCV001517562]|not specified [RCV004847829] | benign|likely benign | 17 | 58360816 | 58360816 | Human | 1 | name |
| 127303865 | CV1158063 | single nucleotide variant | NM_017763.6(RNF43):c.597G>A (p.Val199=) | Hyperplastic polyposis syndrome [RCV005361635]|not provided [RCV001515656]|not specified [RCV002268499] | benign|likely benign | 17 | 58362634 | 58362634 | Human | | name |
| 151862798 | CV1338798 | single nucleotide variant | NM_017763.6(RNF43):c.86G>C (p.Gly29Ala) | not provided [RCV001997352] | uncertain significance | 17 | 58415492 | 58415492 | Human | | name |
| 151781677 | CV1341919 | single nucleotide variant | NM_017763.6(RNF43):c.97G>A (p.Ala33Thr) | not provided [RCV001897300] | uncertain significance | 17 | 58415481 | 58415481 | Human | | name |
| 151833759 | CV1396409 | deletion | NM_017763.6(RNF43):c.171del (p.Thr58fs) | not provided [RCV001902068] | uncertain significance | 17 | 58415407 | 58415407 | Human | | name |
| 151738559 | CV1469575 | single nucleotide variant | NM_017763.6(RNF43):c.82A>C (p.Thr28Pro) | not provided [RCV002041995]|not specified [RCV004847836] | uncertain significance | 17 | 58415496 | 58415496 | Human | | name |
| 152103745 | CV1544587 | single nucleotide variant | NM_017763.6(RNF43):c.792C>T (p.Ser264=) | Hyperplastic polyposis syndrome [RCV005370161]|not provided [RCV002115680] | benign|likely benign | 17 | 58360840 | 58360840 | Human | | name |
| 152050990 | CV1569169 | single nucleotide variant | NM_017763.6(RNF43):c.693G>T (p.Pro231=) | not provided [RCV002207521] | likely benign | 17 | 58360939 | 58360939 | Human | | name |
| 152116400 | CV1569563 | single nucleotide variant | NM_017763.6(RNF43):c.648G>C (p.Ser216=) | not provided [RCV002117249]|not specified [RCV005266180] | likely benign | 17 | 58362583 | 58362583 | Human | | name |
| 152129875 | CV1584384 | single nucleotide variant | NM_017763.6(RNF43):c.693G>A (p.Pro231=) | not provided [RCV002082717]|not specified [RCV005266138] | likely benign | 17 | 58360939 | 58360939 | Human | | name |
| 152068049 | CV1588966 | single nucleotide variant | NM_017763.6(RNF43):c.663G>A (p.Arg221=) | not provided [RCV002209613] | likely benign | 17 | 58362568 | 58362568 | Human | | name |
| 152040181 | CV1592983 | single nucleotide variant | NM_017763.6(RNF43):c.981A>G (p.Gly327=) | not provided [RCV002188140]|not specified [RCV004847892] | likely benign | 17 | 58358795 | 58358795 | Human | | name |
| 152087215 | CV1601164 | single nucleotide variant | NM_017763.6(RNF43):c.483G>A (p.Val161=) | not provided [RCV002093653]|not specified [RCV004847896] | likely benign|conflicting interpretations of pathogenicity | 17 | 58363374 | 58363374 | Human | | name |
| 152140825 | CV1609160 | single nucleotide variant | NM_017763.6(RNF43):c.486G>A (p.Val162=) | not provided [RCV002200551] | likely benign | 17 | 58363371 | 58363371 | Human | | name |
| 152132393 | CV1621375 | single nucleotide variant | NM_017763.6(RNF43):c.615G>A (p.Val205=) | not provided [RCV002218250]|not specified [RCV003493913] | likely benign | 17 | 58362616 | 58362616 | Human | | name |
| 152093466 | CV1625878 | single nucleotide variant | NM_017763.6(RNF43):c.723C>T (p.Ser241=) | not provided [RCV002150889]|not specified [RCV005266200] | likely benign | 17 | 58360909 | 58360909 | Human | | name |
| 152076244 | CV1632671 | single nucleotide variant | NM_017763.6(RNF43):c.771T>C (p.Gly257=) | not provided [RCV002169952]|not specified [RCV005266141] | likely benign | 17 | 58360861 | 58360861 | Human | | name |
| 152039896 | CV1639939 | single nucleotide variant | NM_017763.6(RNF43):c.669C>T (p.Arg223=) | not provided [RCV002087800]|not specified [RCV005266165] | likely benign | 17 | 58362562 | 58362562 | Human | | name |
| 156378117 | CV1906822 | single nucleotide variant | NM_017763.6(RNF43):c.861C>T (p.Val287=) | not provided [RCV003093043]|not specified [RCV005266530] | likely benign | 17 | 58360240 | 58360240 | Human | | name |
| 156330018 | CV2342489 | single nucleotide variant | NM_014901.5(RNF44):c.80G>T (p.Gly27Val) | not specified [RCV004194087] | uncertain significance | 5 | 176532393 | 176532393 | Human | | name |
| 155924340 | CV2358131 | single nucleotide variant | NM_014901.5(RNF44):c.80G>A (p.Gly27Asp) | not specified [RCV004211937] | uncertain significance | 5 | 176532393 | 176532393 | Human | | name |
| 155984549 | CV2367958 | single nucleotide variant | NM_005785.4(RNF41):c.94C>T (p.Pro32Ser) | not specified [RCV004223050] | uncertain significance | 12 | 56210565 | 56210565 | Human | | name |
| 156140730 | CV2383638 | single nucleotide variant | NM_014901.5(RNF44):c.43G>A (p.Ala15Thr) | not specified [RCV004229529] | uncertain significance | 5 | 176532430 | 176532430 | Human | | name |
| 401797874 | CV2741186 | single nucleotide variant | NM_017763.6(RNF43):c.549T>C (p.His183=) | not provided [RCV005102902]|not specified [RCV003322349] | likely benign | 17 | 58363308 | 58363308 | Human | | name |
| 401865334 | CV2778698 | single nucleotide variant | NM_014771.4(RNF40):c.75G>C (p.Glu25Asp) | not specified [RCV004346614] | uncertain significance | 16 | 30762620 | 30762620 | Human | | name |
| 401935820 | CV2808071 | single nucleotide variant | NM_017763.6(RNF43):c.579C>T (p.Ala193=) | not provided [RCV003413282]|not specified [RCV004857975] | likely benign | 17 | 58363278 | 58363278 | Human | | name |
| 401906452 | CV2808073 | single nucleotide variant | NM_017763.6(RNF43):c.474C>T (p.Thr158=) | not provided [RCV003421374]|not specified [RCV005273679] | likely benign | 17 | 58363383 | 58363383 | Human | | name |
| 405122417 | CV2888338 | single nucleotide variant | NM_017763.6(RNF43):c.528G>C (p.Val176=) | not provided [RCV003559210]|not specified [RCV005273727] | likely benign | 17 | 58363329 | 58363329 | Human | | name |
| 402474586 | CV2919558 | single nucleotide variant | NM_017763.6(RNF43):c.56C>G (p.Ala19Gly) | not provided [RCV003571093] | uncertain significance | 17 | 58415522 | 58415522 | Human | | name |
| 405254638 | CV2978216 | single nucleotide variant | NM_017763.6(RNF43):c.433C>A (p.Arg145=) | not provided [RCV003723103] | likely benign | 17 | 58363543 | 58363543 | Human | | name |
| 405082190 | CV3046818 | single nucleotide variant | NM_017763.6(RNF43):c.879G>A (p.Glu293=) | not provided [RCV003717220] | likely benign | 17 | 58360222 | 58360222 | Human | | name |
| 405252336 | CV3047157 | single nucleotide variant | NM_017763.6(RNF43):c.633G>A (p.Val211=) | not provided [RCV003722173]|not specified [RCV005273843] | likely benign | 17 | 58362598 | 58362598 | Human | | name |
| 405177399 | CV3049624 | single nucleotide variant | NM_017763.6(RNF43):c.703A>C (p.Arg235=) | not provided [RCV003728463]|not specified [RCV005273854] | likely benign | 17 | 58360929 | 58360929 | Human | | name |
| 405244772 | CV3050588 | single nucleotide variant | NM_017763.6(RNF43):c.543G>A (p.Lys181=) | not provided [RCV003719972]|not specified [RCV005273842] | likely benign | 17 | 58363314 | 58363314 | Human | | name |
| 405228848 | CV3065985 | single nucleotide variant | NM_017763.6(RNF43):c.726G>A (p.Gln242=) | not provided [RCV003734541]|not specified [RCV005273868] | likely benign | 17 | 58360906 | 58360906 | Human | | name |
| 405190266 | CV3069791 | single nucleotide variant | NM_017763.6(RNF43):c.774G>A (p.Glu258=) | not provided [RCV003729654]|not specified [RCV004847990] | likely benign|uncertain significance | 17 | 58360858 | 58360858 | Human | | name |
| 405871317 | CV3399354 | single nucleotide variant | NM_017763.6(RNF43):c.66G>C (p.Gln22His) | Sessile serrated polyposis cancer syndrome [RCV004574785] | uncertain significance | 17 | 58415512 | 58415512 | Human | 1 | name |
| 407508809 | CV3479773 | single nucleotide variant | NM_005785.4(RNF41):c.31G>A (p.Asp11Asn) | not specified [RCV004672162] | uncertain significance | 12 | 56214017 | 56214017 | Human | | name |
| 597654462 | CV3551641 | deletion | NM_017763.6(RNF43):c.256del (p.His86fs) | Sessile serrated polyposis cancer syndrome [RCV004820354] | pathogenic | 17 | 58371030 | 58371030 | Human | 1 | name |
| 597755371 | CV3590504 | single nucleotide variant | NM_017763.6(RNF43):c.669C>G (p.Arg223=) | Hereditary cancer-predisposing syndrome [RCV005251421]|not specified [RCV004847598] | likely benign | 17 | 58362562 | 58362562 | Human | 1 | name |
| 597755375 | CV3590507 | single nucleotide variant | NM_017763.6(RNF43):c.525T>C (p.Phe175=) | not specified [RCV004847599] | likely benign | 17 | 58363332 | 58363332 | Human | | name |
| 597755379 | CV3590509 | single nucleotide variant | NM_017763.6(RNF43):c.783C>T (p.Asp261=) | not specified [RCV004847600] | likely benign | 17 | 58360849 | 58360849 | Human | | name |
| 597688190 | CV3590523 | single nucleotide variant | NM_017763.6(RNF43):c.852G>A (p.Glu284=) | not specified [RCV004858575] | likely benign | 17 | 58360249 | 58360249 | Human | | name |
| 597755411 | CV3590530 | single nucleotide variant | NM_017763.6(RNF43):c.420C>T (p.Asp140=) | not specified [RCV004847608] | likely benign | 17 | 58363556 | 58363556 | Human | | name |
| 597688354 | CV3590556 | single nucleotide variant | NM_017763.6(RNF43):c.990A>G (p.Arg330=) | not specified [RCV004858593] | likely benign | 17 | 58358786 | 58358786 | Human | | name |
| 597958102 | CV3755253 | single nucleotide variant | NM_017763.6(RNF43):c.516G>A (p.Leu172=) | not provided [RCV005080923] | likely benign | 17 | 58363341 | 58363341 | Human | | name |
| 597959388 | CV3843375 | single nucleotide variant | NM_017763.6(RNF43):c.717C>T (p.Ala239=) | not provided [RCV005192409] | likely benign | 17 | 58360915 | 58360915 | Human | | name |
| 597959610 | CV3843412 | single nucleotide variant | NM_017763.6(RNF43):c.711C>T (p.Ala237=) | not provided [RCV005192446] | likely benign | 17 | 58360921 | 58360921 | Human | | name |
| 598205581 | CV3909701 | single nucleotide variant | NM_017763.6(RNF43):c.999A>G (p.Gln333=) | not specified [RCV005269720] | likely benign | 17 | 58358777 | 58358777 | Human | | name |
| 598205677 | CV3909713 | single nucleotide variant | NM_017763.6(RNF43):c.318C>T (p.Ile106=) | not specified [RCV005269732] | likely benign | 17 | 58370968 | 58370968 | Human | | name |
| 598205803 | CV3909732 | single nucleotide variant | NM_017763.6(RNF43):c.53T>G (p.Met18Arg) | not specified [RCV005269751] | uncertain significance | 17 | 58415525 | 58415525 | Human | | name |
| 598205854 | CV3909739 | single nucleotide variant | NM_017763.6(RNF43):c.648G>A (p.Ser216=) | not specified [RCV005269758] | likely benign | 17 | 58362583 | 58362583 | Human | | name |
| 598205880 | CV3909743 | single nucleotide variant | NM_017763.6(RNF43):c.321C>T (p.Val107=) | not specified [RCV005269762] | likely benign | 17 | 58370965 | 58370965 | Human | | name |
| 598205892 | CV3909745 | single nucleotide variant | NM_017763.6(RNF43):c.345C>T (p.Ala115=) | not specified [RCV005269764] | likely benign | 17 | 58370941 | 58370941 | Human | | name |
| 598205898 | CV3909746 | single nucleotide variant | NM_017763.6(RNF43):c.990A>C (p.Arg330=) | not specified [RCV005269765] | likely benign | 17 | 58358786 | 58358786 | Human | | name |
| 598205966 | CV3909757 | single nucleotide variant | NM_017763.6(RNF43):c.801C>T (p.Ser267=) | not specified [RCV005269776] | likely benign | 17 | 58360831 | 58360831 | Human | | name |
| 598205972 | CV3909758 | single nucleotide variant | NM_017763.6(RNF43):c.789G>A (p.Gly263=) | not specified [RCV005269777] | likely benign | 17 | 58360843 | 58360843 | Human | | name |
| 598206115 | CV3909780 | single nucleotide variant | NM_017763.6(RNF43):c.537C>T (p.Asn179=) | not specified [RCV005269799] | likely benign | 17 | 58363320 | 58363320 | Human | | name |
| 598206287 | CV3909807 | single nucleotide variant | NM_017763.6(RNF43):c.930C>G (p.Pro310=) | not specified [RCV005269826] | likely benign | 17 | 58360171 | 58360171 | Human | | name |
| 598206299 | CV3909809 | single nucleotide variant | NM_017763.6(RNF43):c.933C>T (p.Leu311=) | not specified [RCV005269828] | likely benign | 17 | 58360168 | 58360168 | Human | | name |
| 598206323 | CV3909813 | single nucleotide variant | NM_017763.6(RNF43):c.984C>T (p.Pro328=) | not specified [RCV005269832] | likely benign | 17 | 58358792 | 58358792 | Human | | name |
| 598206329 | CV3909814 | single nucleotide variant | NM_017763.6(RNF43):c.507T>A (p.Ala169=) | not specified [RCV005269833] | likely benign | 17 | 58363350 | 58363350 | Human | | name |
| 598206350 | CV3909817 | single nucleotide variant | NM_017763.6(RNF43):c.465G>A (p.Leu155=) | not specified [RCV005269836] | likely benign | 17 | 58363392 | 58363392 | Human | | name |
| 598206368 | CV3909820 | single nucleotide variant | NM_017763.6(RNF43):c.888T>C (p.Arg296=) | not specified [RCV005269839] | likely benign | 17 | 58360213 | 58360213 | Human | | name |
| 15147089 | CV713641 | single nucleotide variant | NM_005785.4(RNF41):c.447C>T (p.Ile149=) | not provided [RCV000967271] | benign | 12 | 56208214 | 56208214 | Human | | name |
| 15104217 | CV769226 | single nucleotide variant | NM_005785.4(RNF41):c.720T>C (p.Ala240=) | not provided [RCV000937344] | likely benign | 12 | 56206681 | 56206681 | Human | | name |
| 26897292 | CV845679 | single nucleotide variant | NM_017763.6(RNF43):c.687G>A (p.Pro229=) | Sessile serrated polyposis cancer syndrome [RCV005394712]|not provided [RCV001065526] | uncertain significance | 17 | 58362544 | 58362544 | Human | 1 | name |
| 38466591 | CV938050 | single nucleotide variant | NM_017763.6(RNF43):c.387G>A (p.Ala129=) | not provided [RCV001201885]|not specified [RCV004857763] | likely benign|uncertain significance | 17 | 58363589 | 58363589 | Human | | name |
| 38482952 | CV950066 | single nucleotide variant | NM_017763.6(RNF43):c.59C>T (p.Thr20Ile) | not provided [RCV001235726] | uncertain significance | 17 | 58415519 | 58415519 | Human | | name |
| 38487199 | CV950067 | single nucleotide variant | NM_017763.6(RNF43):c.58A>G (p.Thr20Ala) | Sessile serrated polyposis cancer syndrome [RCV005029813]|not provided [RCV001237473]|not specified [RCV005269008] | likely benign|uncertain significance | 17 | 58415520 | 58415520 | Human | 1 | name |
| 126733662 | CV997703 | single nucleotide variant | NM_017763.6(RNF43):c.80G>A (p.Arg27His) | Sessile serrated polyposis cancer syndrome [RCV003469512]|not provided [RCV001294784]|not specified [RCV004857774] | uncertain significance | 17 | 58415498 | 58415498 | Human | 1 | name |
| 126758706 | CV997704 | single nucleotide variant | NM_017763.6(RNF43):c.79C>T (p.Arg27Cys) | Sessile serrated polyposis cancer syndrome [RCV003469522]|not provided [RCV001299270]|not specified [RCV004036131] | uncertain significance | 17 | 58415499 | 58415499 | Human | 1 | name |
| 126739185 | CV1012904 | single nucleotide variant | NM_017763.6(RNF43):c.124G>T (p.Ala42Ser) | not provided [RCV001325015] | uncertain significance | 17 | 58415454 | 58415454 | Human | | name |
| 127272941 | CV1083307 | single nucleotide variant | NM_017763.6(RNF43):c.2313A>C (p.Ser771=) | not provided [RCV001405846] | likely benign | 17 | 58354982 | 58354982 | Human | | name |
| 127280463 | CV1083308 | single nucleotide variant | NM_017763.6(RNF43):c.2226G>A (p.Glu742=) | not provided [RCV001409787]|not specified [RCV005271245] | likely benign | 17 | 58357550 | 58357550 | Human | | name |
| 127266018 | CV1083309 | single nucleotide variant | NM_017763.6(RNF43):c.1983C>T (p.Ser661=) | not provided [RCV001403736]|not specified [RCV004857797] | likely benign | 17 | 58357793 | 58357793 | Human | | name |
| 127256440 | CV1083310 | single nucleotide variant | NM_017763.6(RNF43):c.1320C>T (p.Pro440=) | not provided [RCV001401254]|not specified [RCV005271237] | likely benign | 17 | 58358456 | 58358456 | Human | | name |
| 127236583 | CV1105089 | single nucleotide variant | NM_017763.6(RNF43):c.2346T>C (p.Ala782=) | not provided [RCV001433371] | likely benign | 17 | 58354949 | 58354949 | Human | | name |
| 127253076 | CV1105091 | single nucleotide variant | NM_017763.6(RNF43):c.1761C>T (p.Pro587=) | not provided [RCV001436943]|not specified [RCV005271270] | likely benign | 17 | 58358015 | 58358015 | Human | | name |
| 127240553 | CV1105092 | single nucleotide variant | NM_017763.6(RNF43):c.1719C>T (p.Thr573=) | not provided [RCV001423363]|not specified [RCV004857798] | likely benign | 17 | 58358057 | 58358057 | Human | | name |
| 127265029 | CV1105093 | single nucleotide variant | NM_017763.6(RNF43):c.1467G>A (p.Gly489=) | not provided [RCV001428977]|not specified [RCV005271262] | likely benign | 17 | 58358309 | 58358309 | Human | | name |
| 127277018 | CV1105094 | single nucleotide variant | NM_017763.6(RNF43):c.1311G>C (p.Arg437=) | not provided [RCV001444151]|not specified [RCV003493856] | likely benign | 17 | 58358465 | 58358465 | Human | | name |
| 127276791 | CV1105095 | single nucleotide variant | NM_017763.6(RNF43):c.1167C>A (p.Arg389=) | not provided [RCV001432960]|not specified [RCV005271266] | likely benign | 17 | 58358609 | 58358609 | Human | | name |
| 127247573 | CV1105096 | single nucleotide variant | NM_017763.6(RNF43):c.1071C>T (p.Tyr357=) | not provided [RCV001435650] | likely benign | 17 | 58358705 | 58358705 | Human | | name |
| 127332474 | CV1126476 | single nucleotide variant | NM_017763.6(RNF43):c.2277T>C (p.Tyr759=) | not provided [RCV001472234] | likely benign | 17 | 58357499 | 58357499 | Human | | name |
| 127328190 | CV1126477 | single nucleotide variant | NM_017763.6(RNF43):c.2205G>T (p.Leu735=) | not provided [RCV001469467]|not specified [RCV004847824] | likely benign | 17 | 58357571 | 58357571 | Human | | name |
| 127333746 | CV1126478 | single nucleotide variant | NM_017763.6(RNF43):c.2154T>C (p.Cys718=) | not provided [RCV001473114] | likely benign | 17 | 58357622 | 58357622 | Human | | name |
| 127311638 | CV1126480 | single nucleotide variant | NM_017763.6(RNF43):c.1878A>T (p.Pro626=) | not provided [RCV001464199] | likely benign | 17 | 58357898 | 58357898 | Human | | name |
| 127301662 | CV1126481 | single nucleotide variant | NM_017763.6(RNF43):c.1806C>T (p.Asn602=) | not provided [RCV001461452]|not specified [RCV005271292] | likely benign | 17 | 58357970 | 58357970 | Human | | name |
| 127315421 | CV1126485 | single nucleotide variant | NM_017763.6(RNF43):c.1521C>T (p.Pro507=) | not provided [RCV001457977] | likely benign | 17 | 58358255 | 58358255 | Human | | name |
| 127337465 | CV1126486 | single nucleotide variant | NM_017763.6(RNF43):c.1317G>A (p.Arg439=) | not provided [RCV001475690]|not specified [RCV004847826] | likely benign|conflicting interpretations of pathogenicity | 17 | 58358459 | 58358459 | Human | | name |
| 127295931 | CV1126487 | single nucleotide variant | NM_017763.6(RNF43):c.1254G>A (p.Leu418=) | not provided [RCV001452640]|not specified [RCV004857800] | likely benign | 17 | 58358522 | 58358522 | Human | | name |
| 127299454 | CV1147378 | single nucleotide variant | NM_017763.6(RNF43):c.1953C>T (p.His651=) | not provided [RCV001498302] | likely benign | 17 | 58357823 | 58357823 | Human | | name |
| 127294489 | CV1147379 | single nucleotide variant | NM_017763.6(RNF43):c.1527G>A (p.Val509=) | not provided [RCV001496993]|not specified [RCV005271329] | likely benign | 17 | 58358249 | 58358249 | Human | | name |
| 127332306 | CV1147380 | single nucleotide variant | NM_017763.6(RNF43):c.1017C>G (p.Leu339=) | not provided [RCV001489413]|not specified [RCV004857802] | likely benign | 17 | 58358759 | 58358759 | Human | | name |
| 127302323 | CV1147381 | single nucleotide variant | NM_017763.6(RNF43):c.1014A>G (p.Arg338=) | not provided [RCV001478915] | likely benign | 17 | 58358762 | 58358762 | Human | | name |
| 127299117 | CV1158043 | single nucleotide variant | NM_017763.6(RNF43):c.2280G>A (p.Pro760=) | Sessile serrated polyposis cancer syndrome [RCV005395047]|not provided [RCV001513559]|not specified [RCV001579514] | benign|likely benign | 17 | 58357496 | 58357496 | Human | 1 | name |
| 127318433 | CV1158054 | single nucleotide variant | NM_017763.6(RNF43):c.1302C>T (p.Pro434=) | Sessile serrated polyposis cancer syndrome [RCV005395057]|not provided [RCV001521644]|not specified [RCV003321849] | benign|likely benign | 17 | 58358474 | 58358474 | Human | 1 | name |
| 127308641 | CV1158055 | single nucleotide variant | NM_017763.6(RNF43):c.1131A>T (p.Pro377=) | not provided [RCV001517570]|not specified [RCV004847830] | benign|likely benign | 17 | 58358645 | 58358645 | Human | | name |
| 150554992 | CV1309982 | single nucleotide variant | NM_017763.6(RNF43):c.146G>A (p.Arg49Lys) | not provided [RCV003237991] | uncertain significance | 17 | 58415432 | 58415432 | Human | | name |
| 151810737 | CV1350265 | single nucleotide variant | NM_017763.6(RNF43):c.125C>A (p.Ala42Glu) | not provided [RCV002048831] | uncertain significance | 17 | 58415453 | 58415453 | Human | | name |
| 151781333 | CV1357871 | single nucleotide variant | NM_017763.6(RNF43):c.247A>G (p.Met83Val) | Sessile serrated polyposis cancer syndrome [RCV004571530]|not provided [RCV001875384]|not specified [RCV005271454] | uncertain significance | 17 | 58415331 | 58415331 | Human | 1 | name |
| 151737608 | CV1432694 | single nucleotide variant | NM_017763.6(RNF43):c.1605G>A (p.Ser535=) | not provided [RCV001984901]|not specified [RCV003493894] | likely benign|uncertain significance | 17 | 58358171 | 58358171 | Human | | name |
| 151793065 | CV1467582 | single nucleotide variant | NM_017763.6(RNF43):c.163A>G (p.Met55Val) | not provided [RCV001931604]|not specified [RCV003321883] | uncertain significance | 17 | 58415415 | 58415415 | Human | | name |
| 152167229 | CV1524602 | single nucleotide variant | NM_017763.6(RNF43):c.1914T>C (p.Ser638=) | not provided [RCV002142108] | likely benign | 17 | 58357862 | 58357862 | Human | | name |
| 152126897 | CV1533888 | single nucleotide variant | NM_017763.6(RNF43):c.1185T>C (p.His395=) | not provided [RCV002136432]|not specified [RCV004847899] | likely benign | 17 | 58358591 | 58358591 | Human | | name |
| 152030677 | CV1534330 | single nucleotide variant | NM_017763.6(RNF43):c.1860T>C (p.Pro620=) | not provided [RCV002086196] | likely benign | 17 | 58357916 | 58357916 | Human | | name |
| 152063870 | CV1554514 | single nucleotide variant | NM_017763.6(RNF43):c.2160A>T (p.Ser720=) | not provided [RCV002190871] | likely benign | 17 | 58357616 | 58357616 | Human | | name |
| 152124866 | CV1565441 | single nucleotide variant | NM_017763.6(RNF43):c.1272C>T (p.Thr424=) | not provided [RCV002136186] | likely benign | 17 | 58358504 | 58358504 | Human | | name |
| 152131209 | CV1567968 | single nucleotide variant | NM_017763.6(RNF43):c.1968G>A (p.Arg656=) | not provided [RCV002218097] | likely benign | 17 | 58357808 | 58357808 | Human | | name |
| 152029953 | CV1568774 | single nucleotide variant | NM_017763.6(RNF43):c.2325C>T (p.Leu775=) | not provided [RCV002186328]|not specified [RCV005266213] | likely benign | 17 | 58354970 | 58354970 | Human | | name |
| 152031428 | CV1571623 | single nucleotide variant | NM_017763.6(RNF43):c.1641T>C (p.His547=) | not provided [RCV002186693]|not specified [RCV005266146] | likely benign | 17 | 58358135 | 58358135 | Human | | name |
| 152167603 | CV1600835 | single nucleotide variant | NM_017763.6(RNF43):c.2351G>A (p.Ter784=) | not provided [RCV002160909]|not specified [RCV005266206] | likely benign | 17 | 58354944 | 58354944 | Human | | name |
| 152098992 | CV1627176 | single nucleotide variant | NM_017763.6(RNF43):c.1303C>T (p.Leu435=) | not provided [RCV002095257]|not specified [RCV005266171] | likely benign | 17 | 58358473 | 58358473 | Human | | name |
| 152141019 | CV1628870 | single nucleotide variant | NM_017763.6(RNF43):c.2253C>T (p.Thr751=) | not provided [RCV002100779]|not specified [RCV004847897] | likely benign | 17 | 58357523 | 58357523 | Human | | name |
| 152115780 | CV1637249 | single nucleotide variant | NM_017763.6(RNF43):c.1023C>T (p.Leu341=) | not provided [RCV002216110] | likely benign | 17 | 58358753 | 58358753 | Human | | name |
| 152029214 | CV1653092 | single nucleotide variant | NM_017763.6(RNF43):c.1029C>T (p.Arg343=) | Hyperplastic polyposis syndrome [RCV005361954]|not provided [RCV002085726]|not specified [RCV005266166] | likely benign | 17 | 58358747 | 58358747 | Human | | name |
| 152056614 | CV1656430 | single nucleotide variant | NM_017763.6(RNF43):c.1902C>G (p.Pro634=) | not provided [RCV002109624]|not specified [RCV002268613] | likely benign | 17 | 58357874 | 58357874 | Human | | name |
| 152144872 | CV1658223 | single nucleotide variant | NM_017763.6(RNF43):c.1020C>T (p.His340=) | not provided [RCV002219883]|not specified [RCV004847893] | likely benign | 17 | 58358756 | 58358756 | Human | | name |
| 152981798 | CV1677090 | single nucleotide variant | NM_017763.6(RNF43):c.185A>G (p.Asn62Ser) | Sessile serrated polyposis cancer syndrome [RCV003471297]|not provided [RCV004812438]|not specified [RCV002248159] | uncertain significance | 17 | 58415393 | 58415393 | Human | 1 | name |
| 153302896 | CV1689996 | single nucleotide variant | NM_017763.6(RNF43):c.2082A>G (p.Pro694=) | not specified [RCV002268896] | likely benign | 17 | 58357694 | 58357694 | Human | | name |
| 155683570 | CV1776822 | single nucleotide variant | NM_017763.6(RNF43):c.122C>T (p.Ser41Leu) | not provided [RCV002298358] | uncertain significance | 17 | 58415456 | 58415456 | Human | | name |
| 156364795 | CV1897256 | single nucleotide variant | NM_017763.6(RNF43):c.1536C>T (p.Ser512=) | not provided [RCV002581984]|not specified [RCV004857949] | likely benign | 17 | 58358240 | 58358240 | Human | | name |
| 156021328 | CV1899201 | single nucleotide variant | NM_017763.6(RNF43):c.1221A>T (p.Gly407=) | not provided [RCV003100211] | likely benign | 17 | 58358555 | 58358555 | Human | | name |
| 156275444 | CV1900204 | single nucleotide variant | NM_017763.6(RNF43):c.1803C>A (p.Ser601=) | not provided [RCV003086935]|not specified [RCV005266538] | likely benign | 17 | 58357973 | 58357973 | Human | | name |
| 156413322 | CV1904832 | single nucleotide variant | NM_017763.6(RNF43):c.197A>G (p.Glu66Gly) | Sessile serrated polyposis cancer syndrome [RCV004572786]|not provided [RCV002588127]|not specified [RCV005266545] | uncertain significance | 17 | 58415381 | 58415381 | Human | 1 | name |
| 156333255 | CV1905742 | single nucleotide variant | NM_017763.6(RNF43):c.2007C>T (p.Pro669=) | not provided [RCV003089921]|not specified [RCV005266526] | likely benign | 17 | 58357769 | 58357769 | Human | | name |
| 156018141 | CV1909259 | single nucleotide variant | NM_017763.6(RNF43):c.1293C>T (p.Cys431=) | not provided [RCV002619254] | likely benign | 17 | 58358483 | 58358483 | Human | | name |
| 156200063 | CV1916711 | single nucleotide variant | NM_017763.6(RNF43):c.293A>G (p.Asn98Ser) | not provided [RCV002595671] | uncertain significance | 17 | 58370993 | 58370993 | Human | | name |
| 156418555 | CV1922319 | single nucleotide variant | NM_017763.6(RNF43):c.1680G>A (p.Lys560=) | not provided [RCV002611753]|not specified [RCV004857951] | likely benign | 17 | 58358096 | 58358096 | Human | | name |
| 156435802 | CV1937154 | single nucleotide variant | NM_017763.6(RNF43):c.2262C>T (p.Gly754=) | Sessile serrated polyposis cancer syndrome [RCV005021789]|not provided [RCV003105025] | uncertain significance | 17 | 58357514 | 58357514 | Human | 1 | name |
| 156435803 | CV1937155 | single nucleotide variant | NM_017763.6(RNF43):c.1935C>G (p.Ser645=) | not provided [RCV003105026] | likely benign | 17 | 58357841 | 58357841 | Human | | name |
| 156392076 | CV2005773 | single nucleotide variant | NM_017763.6(RNF43):c.175G>A (p.Gly59Arg) | Sessile serrated polyposis cancer syndrome [RCV004571201]|not provided [RCV002680865] | uncertain significance | 17 | 58415403 | 58415403 | Human | 1 | name |
| 155952902 | CV2014116 | single nucleotide variant | NM_017763.6(RNF43):c.1431C>T (p.Asp477=) | not provided [RCV002686115] | likely benign | 17 | 58358345 | 58358345 | Human | | name |
| 156376065 | CV2024715 | single nucleotide variant | NM_017763.6(RNF43):c.1111C>A (p.Arg371=) | not provided [RCV002721928] | likely benign | 17 | 58358665 | 58358665 | Human | | name |
| 156313868 | CV2031762 | single nucleotide variant | NM_017763.6(RNF43):c.1555C>A (p.Arg519=) | not provided [RCV002716691] | likely benign | 17 | 58358221 | 58358221 | Human | | name |
| 156234192 | CV2036292 | single nucleotide variant | NM_017763.6(RNF43):c.278C>A (p.Ala93Asp) | not provided [RCV002805433] | uncertain significance | 17 | 58371008 | 58371008 | Human | | name |
| 156124435 | CV2040032 | single nucleotide variant | NM_017763.6(RNF43):c.1227G>A (p.Gln409=) | not provided [RCV002785919] | likely benign | 17 | 58358549 | 58358549 | Human | | name |
| 156175376 | CV2053550 | single nucleotide variant | NM_017763.6(RNF43):c.2124G>A (p.Lys708=) | not provided [RCV002802082] | likely benign | 17 | 58357652 | 58357652 | Human | | name |
| 156307712 | CV2115694 | single nucleotide variant | NM_017763.6(RNF43):c.1857C>T (p.Leu619=) | not provided [RCV002922900] | likely benign | 17 | 58357919 | 58357919 | Human | | name |
| 156308301 | CV2249492 | single nucleotide variant | NM_014901.5(RNF44):c.190C>T (p.His64Tyr) | not specified [RCV004120535] | uncertain significance | 5 | 176532111 | 176532111 | Human | | name |
| 156309516 | CV2249646 | single nucleotide variant | NM_014901.5(RNF44):c.154C>T (p.Arg52Cys) | not specified [RCV004120649] | uncertain significance | 5 | 176532147 | 176532147 | Human | | name |
| 155988226 | CV2285334 | single nucleotide variant | NM_014901.5(RNF44):c.145C>T (p.Arg49Trp) | not specified [RCV004139210] | uncertain significance | 5 | 176532156 | 176532156 | Human | | name |
| 156210840 | CV2309839 | single nucleotide variant | NM_014771.4(RNF40):c.218T>A (p.Leu73His) | not specified [RCV004160951] | uncertain significance | 16 | 30763203 | 30763203 | Human | | name |
| 156281683 | CV2348797 | single nucleotide variant | NM_005785.4(RNF41):c.277G>A (p.Val93Ile) | not specified [RCV004203243] | uncertain significance | 12 | 56210382 | 56210382 | Human | | name |
| 156124180 | CV2350087 | single nucleotide variant | NM_014901.5(RNF44):c.196C>T (p.Pro66Ser) | not specified [RCV004200012] | uncertain significance | 5 | 176532105 | 176532105 | Human | | name |
| 156262069 | CV2376891 | single nucleotide variant | NM_014901.5(RNF44):c.208C>T (p.Arg70Cys) | not specified [RCV004229588] | uncertain significance | 5 | 176532093 | 176532093 | Human | | name |
| 155906464 | CV2379030 | single nucleotide variant | NM_014901.5(RNF44):c.218C>T (p.Ser73Leu) | not specified [RCV004233790] | uncertain significance | 5 | 176532083 | 176532083 | Human | | name |
| 401781603 | CV2682054 | single nucleotide variant | NM_014901.5(RNF44):c.199G>A (p.Val67Ile) | not specified [RCV004290119] | uncertain significance | 5 | 176532102 | 176532102 | Human | | name |
| 401774018 | CV2702536 | single nucleotide variant | NM_014901.5(RNF44):c.233G>A (p.Gly78Glu) | not specified [RCV004317030] | uncertain significance | 5 | 176532068 | 176532068 | Human | | name |
| 401784020 | CV2720960 | single nucleotide variant | NM_014901.5(RNF44):c.217T>G (p.Ser73Ala) | not specified [RCV004328268] | uncertain significance | 5 | 176532084 | 176532084 | Human | | name |
| 401864561 | CV2777888 | single nucleotide variant | NM_014901.5(RNF44):c.212G>A (p.Arg71Gln) | not specified [RCV004347858] | uncertain significance | 5 | 176532089 | 176532089 | Human | | name |
| 401914449 | CV2808070 | single nucleotide variant | NM_017763.6(RNF43):c.1017C>T (p.Leu339=) | not provided [RCV003428346] | likely benign | 17 | 58358759 | 58358759 | Human | | name |
| 401948188 | CV2833418 | single nucleotide variant | NM_017763.6(RNF43):c.106G>A (p.Val36Met) | Sessile serrated polyposis cancer syndrome [RCV003471864] | uncertain significance | 17 | 58415472 | 58415472 | Human | 1 | name |
| 401948374 | CV2833428 | deletion | NM_017763.6(RNF43):c.575del (p.Pro192fs) | Sessile serrated polyposis cancer syndrome [RCV003471874] | uncertain significance | 17 | 58363282 | 58363282 | Human | 1 | name |
| 401948363 | CV2833432 | single nucleotide variant | NM_017763.6(RNF43):c.103G>A (p.Ala35Thr) | Sessile serrated polyposis cancer syndrome [RCV003471878]|not provided [RCV004721196]|not specified [RCV005273697] | uncertain significance | 17 | 58415475 | 58415475 | Human | 1 | name |
| 401948205 | CV2833448 | single nucleotide variant | NM_017763.6(RNF43):c.100G>A (p.Ala34Thr) | Sessile serrated polyposis cancer syndrome [RCV003471894] | uncertain significance | 17 | 58415478 | 58415478 | Human | 1 | name |
| 405006674 | CV2853008 | single nucleotide variant | NM_017763.6(RNF43):c.2034C>T (p.Cys678=) | not specified [RCV003494202] | likely benign | 17 | 58357742 | 58357742 | Human | | name |
| 405020523 | CV2866327 | single nucleotide variant | NM_017763.6(RNF43):c.2088A>G (p.Ala696=) | not provided [RCV003577534] | likely benign | 17 | 58357688 | 58357688 | Human | | name |
| 405204100 | CV2986143 | single nucleotide variant | NM_017763.6(RNF43):c.2334G>C (p.Leu778=) | not provided [RCV003678450] | likely benign | 17 | 58354961 | 58354961 | Human | | name |
| 402486804 | CV2998952 | single nucleotide variant | NM_017763.6(RNF43):c.194T>G (p.Leu65Trp) | not provided [RCV003687067] | uncertain significance | 17 | 58415384 | 58415384 | Human | | name |
| 405246029 | CV3051631 | single nucleotide variant | NM_017763.6(RNF43):c.169C>T (p.Pro57Ser) | not provided [RCV003720358] | uncertain significance | 17 | 58415409 | 58415409 | Human | | name |
| 405245684 | CV3051651 | single nucleotide variant | NM_017763.6(RNF43):c.2286C>T (p.Cys762=) | not provided [RCV003720372]|not specified [RCV005273849] | likely benign | 17 | 58357490 | 58357490 | Human | | name |
| 405245180 | CV3054973 | single nucleotide variant | NM_017763.6(RNF43):c.1203G>A (p.Glu401=) | not provided [RCV003720217] | likely benign | 17 | 58358573 | 58358573 | Human | | name |
| 405217902 | CV3055808 | single nucleotide variant | NM_017763.6(RNF43):c.1374G>T (p.Leu458=) | not provided [RCV003732794] | likely benign | 17 | 58358402 | 58358402 | Human | | name |
| 405199949 | CV3056750 | single nucleotide variant | NM_017763.6(RNF43):c.1626C>G (p.Thr542=) | not provided [RCV003730675] | likely benign | 17 | 58358150 | 58358150 | Human | | name |
| 405179032 | CV3060334 | single nucleotide variant | NM_017763.6(RNF43):c.143T>A (p.Ile48Asn) | not provided [RCV003728603]|not specified [RCV005273858] | uncertain significance | 17 | 58415435 | 58415435 | Human | | name |
| 405194937 | CV3062931 | single nucleotide variant | NM_017763.6(RNF43):c.1038C>T (p.Pro346=) | not provided [RCV003730085]|not specified [RCV004857999] | likely benign | 17 | 58358738 | 58358738 | Human | | name |
| 405226420 | CV3068473 | single nucleotide variant | NM_017763.6(RNF43):c.121T>A (p.Ser41Thr) | Sessile serrated polyposis cancer syndrome [RCV004573269]|not provided [RCV003734034] | uncertain significance | 17 | 58415457 | 58415457 | Human | 1 | name |
| 405200975 | CV3143501 | single nucleotide variant | NM_017763.6(RNF43):c.142A>G (p.Ile48Val) | not provided [RCV003844487] | uncertain significance | 17 | 58415436 | 58415436 | Human | | name |
| 405222436 | CV3154933 | single nucleotide variant | NM_017763.6(RNF43):c.2343G>A (p.Gln781=) | not provided [RCV003847429] | likely benign | 17 | 58354952 | 58354952 | Human | | name |
| 405153411 | CV3163078 | single nucleotide variant | NM_017763.6(RNF43):c.1560G>A (p.Val520=) | not provided [RCV003856521] | likely benign | 17 | 58358216 | 58358216 | Human | | name |
| 405252909 | CV3178140 | single nucleotide variant | NM_017763.6(RNF43):c.2184C>T (p.Cys728=) | not provided [RCV003870920] | likely benign | 17 | 58357592 | 58357592 | Human | | name |
| 402495542 | CV3183104 | single nucleotide variant | NM_017763.6(RNF43):c.1983C>A (p.Ser661=) | not provided [RCV003877412]|not specified [RCV005274006] | likely benign | 17 | 58357793 | 58357793 | Human | | name |
| 405699083 | CV3313379 | single nucleotide variant | NM_014771.4(RNF40):c.158A>G (p.Gln53Arg) | not specified [RCV004446755] | uncertain significance | 16 | 30763143 | 30763143 | Human | | name |
| 405699589 | CV3313400 | single nucleotide variant | NM_014901.5(RNF44):c.149A>G (p.Asp50Gly) | not specified [RCV004446776] | uncertain significance | 5 | 176532152 | 176532152 | Human | | name |
| 405699580 | CV3313402 | single nucleotide variant | NM_014901.5(RNF44):c.209G>A (p.Arg70His) | not specified [RCV004446778] | likely benign | 5 | 176532092 | 176532092 | Human | | name |
| 405699571 | CV3313403 | single nucleotide variant | NM_014901.5(RNF44):c.277A>G (p.Met93Val) | not specified [RCV004446779] | uncertain significance | 5 | 176532024 | 176532024 | Human | | name |
| 405871307 | CV3399348 | single nucleotide variant | NM_017763.6(RNF43):c.200G>A (p.Gly67Asp) | Sessile serrated polyposis cancer syndrome [RCV004574779] | uncertain significance | 17 | 58415378 | 58415378 | Human | 1 | name |
| 405871315 | CV3399353 | single nucleotide variant | NM_017763.6(RNF43):c.107T>C (p.Val36Ala) | Sessile serrated polyposis cancer syndrome [RCV004574784] | uncertain significance | 17 | 58415471 | 58415471 | Human | 1 | name |
| 407455927 | CV3415781 | single nucleotide variant | NM_017763.6(RNF43):c.1809A>C (p.Ser603=) | not provided [RCV004598657] | likely benign | 17 | 58357967 | 58357967 | Human | | name |
| 407508799 | CV3479768 | single nucleotide variant | NM_014771.4(RNF40):c.184C>T (p.Arg62Trp) | not specified [RCV004672159] | uncertain significance | 16 | 30763169 | 30763169 | Human | | name |
| 407513476 | CV3479778 | single nucleotide variant | NM_014901.5(RNF44):c.182G>A (p.Arg61Gln) | not specified [RCV004674137] | uncertain significance | 5 | 176532119 | 176532119 | Human | | name |
| 408381130 | CV3501825 | single nucleotide variant | NM_017763.6(RNF43):c.271T>C (p.Cys91Arg) | not provided [RCV004729353] | uncertain significance | 17 | 58371015 | 58371015 | Human | | name |
| 408386923 | CV3518612 | single nucleotide variant | NM_017763.6(RNF43):c.1681C>A (p.Arg561=) | not provided [RCV004760930]|not specified [RCV004848017] | likely benign|uncertain significance | 17 | 58358095 | 58358095 | Human | | name |
| 597688120 | CV3590512 | single nucleotide variant | NM_017763.6(RNF43):c.1296A>G (p.Pro432=) | not specified [RCV004858568] | likely benign | 17 | 58358480 | 58358480 | Human | | name |
| 597688172 | CV3590519 | single nucleotide variant | NM_017763.6(RNF43):c.1848C>T (p.Pro616=) | not specified [RCV004858573] | likely benign | 17 | 58357928 | 58357928 | Human | | name |
| 597688200 | CV3590524 | single nucleotide variant | NM_017763.6(RNF43):c.1752G>A (p.Arg584=) | not specified [RCV004858576] | likely benign | 17 | 58358024 | 58358024 | Human | | name |
| 597688211 | CV3590527 | single nucleotide variant | NM_017763.6(RNF43):c.2211A>G (p.Pro737=) | not specified [RCV004858577] | likely benign | 17 | 58357565 | 58357565 | Human | | name |
| 597755420 | CV3590538 | single nucleotide variant | NM_017763.6(RNF43):c.104C>T (p.Ala35Val) | Sessile serrated polyposis cancer syndrome [RCV005392909]|not specified [RCV004847610] | uncertain significance | 17 | 58415474 | 58415474 | Human | 1 | name |
| 597755436 | CV3590544 | single nucleotide variant | NM_017763.6(RNF43):c.2151C>T (p.Pro717=) | not specified [RCV004847614] | likely benign | 17 | 58357625 | 58357625 | Human | | name |
| 597755440 | CV3590545 | single nucleotide variant | NM_017763.6(RNF43):c.1101T>C (p.Ala367=) | not specified [RCV004847615] | likely benign | 17 | 58358675 | 58358675 | Human | | name |
| 597688300 | CV3590546 | single nucleotide variant | NM_017763.6(RNF43):c.109G>A (p.Glu37Lys) | not specified [RCV004858587] | uncertain significance | 17 | 58415469 | 58415469 | Human | | name |
| 597755456 | CV3590554 | single nucleotide variant | NM_017763.6(RNF43):c.1824G>T (p.Gly608=) | not specified [RCV004847619] | likely benign | 17 | 58357952 | 58357952 | Human | | name |
| 597755464 | CV3590558 | single nucleotide variant | NM_017763.6(RNF43):c.2175G>A (p.Val725=) | not specified [RCV004847621] | likely benign | 17 | 58357601 | 58357601 | Human | | name |
| 597688363 | CV3590559 | single nucleotide variant | NM_017763.6(RNF43):c.1998C>G (p.Gly666=) | not specified [RCV004858594] | likely benign | 17 | 58357778 | 58357778 | Human | | name |
| 597688421 | CV3590570 | single nucleotide variant | NM_014901.5(RNF44):c.193C>T (p.Leu65Phe) | not specified [RCV004858600] | uncertain significance | 5 | 176532108 | 176532108 | Human | | name |
| 597755487 | CV3590571 | single nucleotide variant | NM_014901.5(RNF44):c.238C>T (p.Pro80Ser) | not specified [RCV004847627] | uncertain significance | 5 | 176532063 | 176532063 | Human | | name |
| 597688431 | CV3590572 | single nucleotide variant | NM_014901.5(RNF44):c.207G>T (p.Glu69Asp) | not specified [RCV004858601] | uncertain significance | 5 | 176532094 | 176532094 | Human | | name |
| 597669150 | CV3732805 | single nucleotide variant | NM_017763.6(RNF43):c.168C>A (p.Asp56Glu) | not provided [RCV005004637] | uncertain significance | 17 | 58415410 | 58415410 | Human | | name |
| 597870461 | CV3749884 | single nucleotide variant | NM_017763.6(RNF43):c.1215G>A (p.Leu405=) | not provided [RCV005068565]|not specified [RCV005269129] | likely benign | 17 | 58358561 | 58358561 | Human | | name |
| 597858166 | CV3755808 | single nucleotide variant | NM_017763.6(RNF43):c.2094C>A (p.Pro698=) | not provided [RCV005088959]|not specified [RCV005269144] | likely benign | 17 | 58357682 | 58357682 | Human | | name |
| 597961811 | CV3795270 | deletion | NM_017763.6(RNF43):c.999del (p.Glu334fs) | not provided [RCV005138962] | uncertain significance | 17 | 58358777 | 58358777 | Human | | name |
| 597884136 | CV3799564 | single nucleotide variant | NM_017763.6(RNF43):c.1173C>T (p.Pro391=) | not provided [RCV005150231] | likely benign | 17 | 58358603 | 58358603 | Human | | name |
| 597875340 | CV3813104 | single nucleotide variant | NM_017763.6(RNF43):c.291C>A (p.Asp97Glu) | not provided [RCV005149040] | uncertain significance | 17 | 58370995 | 58370995 | Human | | name |
| 597908624 | CV3829938 | single nucleotide variant | NM_017763.6(RNF43):c.1239A>T (p.Ala413=) | not provided [RCV005182507] | likely benign | 17 | 58358537 | 58358537 | Human | | name |
| 597934697 | CV3845098 | single nucleotide variant | NM_017763.6(RNF43):c.1305A>G (p.Leu435=) | not provided [RCV005186411] | likely benign | 17 | 58358471 | 58358471 | Human | | name |
| 597906034 | CV3853215 | single nucleotide variant | NM_017763.6(RNF43):c.1794C>T (p.Val598=) | not provided [RCV005202872] | likely benign | 17 | 58357982 | 58357982 | Human | | name |
| 597966432 | CV3859107 | single nucleotide variant | NM_017763.6(RNF43):c.2283C>T (p.His761=) | not provided [RCV005194502] | likely benign | 17 | 58357493 | 58357493 | Human | | name |
| 598202684 | CV3896526 | single nucleotide variant | NM_017763.6(RNF43):c.260C>T (p.Pro87Leu) | Hyperplastic polyposis syndrome [RCV005356755]|not specified [RCV005269254] | uncertain significance | 17 | 58371026 | 58371026 | Human | | name |
| 12896182 | CV390363 | single nucleotide variant | NM_017763.6(RNF43):c.139A>G (p.Ile47Val) | Hereditary cancer-predisposing syndrome [RCV003482144]|not provided [RCV001523214]|not specified [RCV000455001] | benign | 17 | 58415439 | 58415439 | Human | 1 | name |
| 598205553 | CV3909697 | single nucleotide variant | NM_017763.6(RNF43):c.1200A>G (p.Gly400=) | not specified [RCV005269716] | likely benign | 17 | 58358576 | 58358576 | Human | | name |
| 598205619 | CV3909706 | single nucleotide variant | NM_017763.6(RNF43):c.1252C>T (p.Leu418=) | not specified [RCV005269725] | likely benign | 17 | 58358524 | 58358524 | Human | | name |
| 598205643 | CV3909709 | single nucleotide variant | NM_017763.6(RNF43):c.2262C>A (p.Gly754=) | not specified [RCV005269728] | likely benign | 17 | 58357514 | 58357514 | Human | | name |
| 598205667 | CV3909712 | single nucleotide variant | NM_017763.6(RNF43):c.1851G>A (p.Arg617=) | not specified [RCV005269731] | likely benign | 17 | 58357925 | 58357925 | Human | | name |
| 598205708 | CV3909717 | single nucleotide variant | NM_017763.6(RNF43):c.1167C>T (p.Arg389=) | not specified [RCV005269736] | likely benign | 17 | 58358609 | 58358609 | Human | | name |
| 598205713 | CV3909718 | single nucleotide variant | NM_017763.6(RNF43):c.1827G>A (p.Arg609=) | not specified [RCV005269737] | likely benign | 17 | 58357949 | 58357949 | Human | | name |
| 598205868 | CV3909741 | single nucleotide variant | NM_017763.6(RNF43):c.276T>G (p.Asn92Lys) | not specified [RCV005269760] | uncertain significance | 17 | 58371010 | 58371010 | Human | | name |
| 598205885 | CV3909744 | single nucleotide variant | NM_017763.6(RNF43):c.199G>T (p.Gly67Cys) | not specified [RCV005269763] | uncertain significance | 17 | 58415379 | 58415379 | Human | | name |
| 598205921 | CV3909750 | single nucleotide variant | NM_017763.6(RNF43):c.145A>G (p.Arg49Gly) | not specified [RCV005269769] | uncertain significance | 17 | 58415433 | 58415433 | Human | | name |
| 598205953 | CV3909755 | single nucleotide variant | NM_017763.6(RNF43):c.1635C>T (p.Ser545=) | not specified [RCV005269774] | likely benign | 17 | 58358141 | 58358141 | Human | | name |
| 598205959 | CV3909756 | single nucleotide variant | NM_017763.6(RNF43):c.2202C>G (p.Pro734=) | not specified [RCV005269775] | likely benign | 17 | 58357574 | 58357574 | Human | | name |
| 598205990 | CV3909761 | single nucleotide variant | NM_017763.6(RNF43):c.131A>G (p.Gln44Arg) | not specified [RCV005269780] | uncertain significance | 17 | 58415447 | 58415447 | Human | | name |
| 598205997 | CV3909762 | single nucleotide variant | NM_017763.6(RNF43):c.1665C>T (p.His555=) | not specified [RCV005269781] | likely benign | 17 | 58358111 | 58358111 | Human | | name |
| 598206010 | CV3909764 | single nucleotide variant | NM_017763.6(RNF43):c.1836C>T (p.Asn612=) | not specified [RCV005269783] | likely benign | 17 | 58357940 | 58357940 | Human | | name |
| 598206041 | CV3909769 | single nucleotide variant | NM_017763.6(RNF43):c.1941C>T (p.Leu647=) | not specified [RCV005269788] | likely benign | 17 | 58357835 | 58357835 | Human | | name |
| 598206063 | CV3909772 | single nucleotide variant | NM_017763.6(RNF43):c.1668C>T (p.His556=) | not specified [RCV005269791] | likely benign | 17 | 58358108 | 58358108 | Human | | name |
| 598206157 | CV3909786 | single nucleotide variant | NM_017763.6(RNF43):c.2127G>A (p.Arg709=) | not specified [RCV005269805] | likely benign | 17 | 58357649 | 58357649 | Human | | name |
| 598206169 | CV3909788 | single nucleotide variant | NM_017763.6(RNF43):c.2319G>A (p.Glu773=) | not specified [RCV005269807] | likely benign | 17 | 58354976 | 58354976 | Human | | name |
| 598206182 | CV3909790 | single nucleotide variant | NM_017763.6(RNF43):c.235G>A (p.Glu79Lys) | not specified [RCV005269809] | uncertain significance | 17 | 58415343 | 58415343 | Human | | name |
| 598206227 | CV3909797 | single nucleotide variant | NM_017763.6(RNF43):c.170C>G (p.Pro57Arg) | not specified [RCV005269816] | uncertain significance | 17 | 58415408 | 58415408 | Human | | name |
| 598206239 | CV3909799 | single nucleotide variant | NM_017763.6(RNF43):c.2142C>T (p.Thr714=) | not specified [RCV005269818] | likely benign | 17 | 58357634 | 58357634 | Human | | name |
| 598206245 | CV3909800 | single nucleotide variant | NM_017763.6(RNF43):c.2148C>T (p.Gly716=) | not specified [RCV005269819] | likely benign | 17 | 58357628 | 58357628 | Human | | name |
| 598206263 | CV3909803 | single nucleotide variant | NM_017763.6(RNF43):c.1518C>T (p.Asp506=) | not specified [RCV005269822] | likely benign | 17 | 58358258 | 58358258 | Human | | name |
| 598206305 | CV3909810 | single nucleotide variant | NM_017763.6(RNF43):c.1260C>T (p.His420=) | not specified [RCV005269829] | likely benign | 17 | 58358516 | 58358516 | Human | | name |
| 598206335 | CV3909815 | single nucleotide variant | NM_017763.6(RNF43):c.283G>A (p.Asp95Asn) | not specified [RCV005269834] | uncertain significance | 17 | 58371003 | 58371003 | Human | | name |
| 598206364 | CV3909819 | single nucleotide variant | NM_017763.6(RNF43):c.1825C>A (p.Arg609=) | not specified [RCV005269838] | likely benign | 17 | 58357951 | 58357951 | Human | | name |
| 598206402 | CV3909826 | single nucleotide variant | NM_014901.5(RNF44):c.155G>A (p.Arg52His) | not specified [RCV005269845] | uncertain significance | 5 | 176532146 | 176532146 | Human | | name |
| 598206421 | CV3909829 | single nucleotide variant | NM_014901.5(RNF44):c.257C>T (p.Ala86Val) | not specified [RCV005269848] | uncertain significance | 5 | 176532044 | 176532044 | Human | | name |
| 598176822 | CV4008193 | single nucleotide variant | NM_017763.6(RNF43):c.1452C>T (p.Asp484=) | Sessile serrated polyposis cancer syndrome [RCV005393709] | likely benign | 17 | 58358324 | 58358324 | Human | 1 | name |
| 15102919 | CV721382 | single nucleotide variant | NM_014901.5(RNF44):c.1125G>A (p.Ser375=) | not provided [RCV000892574] | benign | 5 | 176529534 | 176529534 | Human | | name |
| 15163394 | CV726602 | single nucleotide variant | NM_014771.4(RNF40):c.2784C>T (p.Tyr928=) | not provided [RCV000881961] | benign | 16 | 30772145 | 30772145 | Human | | name |
| 15203192 | CV755131 | single nucleotide variant | NM_014771.4(RNF40):c.1281C>T (p.Ile427=) | not provided [RCV000913775] | likely benign | 16 | 30766546 | 30766546 | Human | | name |
| 26918949 | CV845675 | single nucleotide variant | NM_017763.6(RNF43):c.1449G>A (p.Thr483=) | not provided [RCV001044589]|not specified [RCV004847771] | likely benign|uncertain significance | 17 | 58358327 | 58358327 | Human | | name |
| 26895453 | CV845683 | single nucleotide variant | NM_017763.6(RNF43):c.259C>G (p.Pro87Ala) | not provided [RCV001064030] | uncertain significance | 17 | 58371027 | 58371027 | Human | | name |
| 38485598 | CV938051 | single nucleotide variant | NM_017763.6(RNF43):c.172A>G (p.Thr58Ala) | Sessile serrated polyposis cancer syndrome [RCV003469345]|not provided [RCV001208547]|not specified [RCV002268452] | uncertain significance | 17 | 58415406 | 58415406 | Human | 1 | name |
| 38496020 | CV950063 | deletion | NM_017763.6(RNF43):c.350del (p.Arg117fs) | not provided [RCV001226110] | uncertain significance | 17 | 58370936 | 58370936 | Human | | name |
| 38478775 | CV950065 | single nucleotide variant | NM_017763.6(RNF43):c.289G>A (p.Asp97Asn) | Sessile serrated polyposis cancer syndrome [RCV004570587]|not provided [RCV001234038]|not specified [RCV005268996] | likely benign|uncertain significance | 17 | 58370997 | 58370997 | Human | 1 | name |
| 126744921 | CV997702 | single nucleotide variant | NM_017763.6(RNF43):c.172A>T (p.Thr58Ser) | Sessile serrated polyposis cancer syndrome [RCV004570714]|not provided [RCV001305908]|not specified [RCV005271133] | likely benign|uncertain significance | 17 | 58415406 | 58415406 | Human | 1 | name |
| 126743611 | CV1012898 | single nucleotide variant | NM_017763.6(RNF43):c.772G>A (p.Glu258Lys) | not provided [RCV001314823] | uncertain significance | 17 | 58360860 | 58360860 | Human | | name |
| 126769031 | CV1012899 | single nucleotide variant | NM_017763.6(RNF43):c.686C>T (p.Pro229Leu) | Sessile serrated polyposis cancer syndrome [RCV003469547]|not provided [RCV001321714]|not specified [RCV005271159] | likely benign|uncertain significance | 17 | 58362545 | 58362545 | Human | 1 | name |
| 126773262 | CV1012900 | single nucleotide variant | NM_017763.6(RNF43):c.661C>T (p.Arg221Trp) | not provided [RCV001324226]|not specified [RCV005271165] | uncertain significance | 17 | 58362570 | 58362570 | Human | | name |
| 126768664 | CV1012901 | single nucleotide variant | NM_017763.6(RNF43):c.544G>T (p.Ala182Ser) | not provided [RCV001321494] | uncertain significance | 17 | 58363313 | 58363313 | Human | | name |
| 126734433 | CV1012902 | single nucleotide variant | NM_017763.6(RNF43):c.505G>T (p.Ala169Ser) | Sessile serrated polyposis cancer syndrome [RCV004570740]|not provided [RCV001313569]|not specified [RCV004034290] | uncertain significance | 17 | 58363352 | 58363352 | Human | 1 | name |
| 126749010 | CV1012903 | single nucleotide variant | NM_017763.6(RNF43):c.301C>G (p.Pro101Ala) | not provided [RCV001326450] | uncertain significance | 17 | 58370985 | 58370985 | Human | | name |
| 126766529 | CV1033437 | single nucleotide variant | NM_017763.6(RNF43):c.985T>C (p.Ser329Pro) | Sessile serrated polyposis cancer syndrome [RCV003469573]|not provided [RCV001342463] | uncertain significance | 17 | 58358791 | 58358791 | Human | 1 | name |
| 126747348 | CV1033438 | single nucleotide variant | NM_017763.6(RNF43):c.938T>C (p.Met313Thr) | not provided [RCV001351658] | uncertain significance | 17 | 58360163 | 58360163 | Human | | name |
| 126770765 | CV1033439 | single nucleotide variant | NM_017763.6(RNF43):c.787G>A (p.Gly263Arg) | Sessile serrated polyposis cancer syndrome [RCV003469576]|not provided [RCV001344659]|not specified [RCV005271186] | likely benign|uncertain significance | 17 | 58360845 | 58360845 | Human | 1 | name |
| 126751969 | CV1033440 | single nucleotide variant | NM_017763.6(RNF43):c.671C>G (p.Pro224Arg) | Sessile serrated polyposis cancer syndrome [RCV004570807]|not provided [RCV001338344]|not specified [RCV004847807] | uncertain significance | 17 | 58362560 | 58362560 | Human | 1 | name |
| 126910060 | CV1050428 | single nucleotide variant | NM_017763.6(RNF43):c.647C>T (p.Ser216Leu) | not provided [RCV001368753] | uncertain significance | 17 | 58362584 | 58362584 | Human | | name |
| 126917060 | CV1050429 | single nucleotide variant | NM_017763.6(RNF43):c.505G>A (p.Ala169Thr) | not provided [RCV001360944] | uncertain significance | 17 | 58363352 | 58363352 | Human | | name |
| 126922643 | CV1050430 | single nucleotide variant | NM_017763.6(RNF43):c.377C>T (p.Ala126Val) | Sessile serrated polyposis cancer syndrome [RCV003469602]|not provided [RCV001364912]|not specified [RCV005271211] | uncertain significance | 17 | 58363599 | 58363599 | Human | 1 | name |
| 127235456 | CV1083314 | single nucleotide variant | NM_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 significance | 17 | 58363542 | 58363542 | Human | 1 | name |
| 127256477 | CV1105099 | single nucleotide variant | NM_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 significance | 17 | 58362557 | 58362557 | Human | | name |
| 127316955 | CV1158062 | single nucleotide variant | NM_017763.6(RNF43):c.662G>A (p.Arg221Gln) | Sessile serrated polyposis cancer syndrome [RCV005395056]|not provided [RCV001520796]|not specified [RCV001729936] | benign | 17 | 58362569 | 58362569 | Human | 1 | name |
| 150554990 | CV1309980 | deletion | NM_017763.6(RNF43):c.1976del (p.Gly659fs) | not provided [RCV003237989] | likely pathogenic | 17 | 58357800 | 58357800 | Human | | name |
| 151356448 | CV1329212 | single nucleotide variant | NM_017763.6(RNF43):c.407C>T (p.Ala136Val) | not specified [RCV001822801] | uncertain significance | 17 | 58363569 | 58363569 | Human | | name |
| 151883398 | CV1337847 | single nucleotide variant | NM_017763.6(RNF43):c.425C>T (p.Thr142Ile) | not provided [RCV001962119] | uncertain significance | 17 | 58363551 | 58363551 | Human | | name |
| 151863179 | CV1338892 | single nucleotide variant | NM_017763.6(RNF43):c.340C>T (p.Arg114Trp) | Sessile serrated polyposis cancer syndrome [RCV003471105]|not provided [RCV001997401]|not specified [RCV004857856] | uncertain significance | 17 | 58370946 | 58370946 | Human | 1 | name |
| 151861764 | CV1364975 | single nucleotide variant | NM_017763.6(RNF43):c.915G>C (p.Gln305His) | not provided [RCV002017838] | uncertain significance | 17 | 58360186 | 58360186 | Human | | name |
| 151813491 | CV1366308 | single nucleotide variant | NM_017763.6(RNF43):c.856C>T (p.Arg286Trp) | not provided [RCV001933437] | uncertain significance | 17 | 58360245 | 58360245 | Human | | name |
| 151871481 | CV1384258 | single nucleotide variant | NM_017763.6(RNF43):c.673C>T (p.Arg225Cys) | Sessile serrated polyposis cancer syndrome [RCV003471097]|not provided [RCV001960484] | uncertain significance | 17 | 58362558 | 58362558 | Human | 1 | name |
| 151763011 | CV1384301 | single nucleotide variant | NM_017763.6(RNF43):c.928C>T (p.Pro310Ser) | not provided [RCV001987494]|not specified [RCV005271563] | uncertain significance | 17 | 58360173 | 58360173 | Human | | name |
| 151734433 | CV1393115 | deletion | NM_017763.6(RNF43):c.1322del (p.Pro441fs) | not provided [RCV001967446] | uncertain significance | 17 | 58358454 | 58358454 | Human | | name |
| 151720352 | CV1396615 | single nucleotide variant | NM_017763.6(RNF43):c.499A>G (p.Asn167Asp) | not provided [RCV001890997] | uncertain significance | 17 | 58363358 | 58363358 | Human | | name |
| 151730148 | CV1412951 | single nucleotide variant | NM_017763.6(RNF43):c.857G>A (p.Arg286Gln) | Sessile serrated polyposis cancer syndrome [RCV003471108]|not provided [RCV002004685] | uncertain significance | 17 | 58360244 | 58360244 | Human | 1 | name |
| 151798822 | CV1430558 | single nucleotide variant | NM_017763.6(RNF43):c.379C>T (p.Arg127Trp) | not provided [RCV001877185]|not specified [RCV005271434] | uncertain significance | 17 | 58363597 | 58363597 | Human | | name |
| 151743538 | CV1431199 | single nucleotide variant | NM_017763.6(RNF43):c.914A>G (p.Gln305Arg) | Sessile serrated polyposis cancer syndrome [RCV003471014]|not provided [RCV001893515]|not specified [RCV005271474] | uncertain significance | 17 | 58360187 | 58360187 | Human | 1 | name |
| 151863982 | CV1431484 | single nucleotide variant | NM_017763.6(RNF43):c.592G>T (p.Asp198Tyr) | not provided [RCV001924374] | uncertain significance | 17 | 58362639 | 58362639 | Human | | name |
| 151769583 | CV1441990 | single nucleotide variant | NM_017763.6(RNF43):c.300G>T (p.Glu100Asp) | not provided [RCV002025224] | uncertain significance | 17 | 58370986 | 58370986 | Human | | name |
| 151802424 | CV1442398 | single nucleotide variant | NM_017763.6(RNF43):c.748G>A (p.Ala250Thr) | not provided [RCV002011696] | uncertain significance | 17 | 58360884 | 58360884 | Human | | name |
| 151865197 | CV1443124 | duplication | NM_017763.6(RNF43):c.2058dup (p.Ser687fs) | not provided [RCV002034967] | uncertain significance | 17 | 58357717 | 58357718 | Human | | name |
| 151768909 | CV1450878 | single nucleotide variant | NM_017763.6(RNF43):c.443C>G (p.Ala148Gly) | Sessile serrated polyposis cancer syndrome [RCV003471068]|not provided [RCV001929326]|not specified [RCV005271527] | uncertain significance | 17 | 58363533 | 58363533 | Human | 1 | name |
| 151753515 | CV1471129 | single nucleotide variant | NM_017763.6(RNF43):c.559G>A (p.Glu187Lys) | not provided [RCV001948388]|not specified [RCV004041958] | uncertain significance | 17 | 58363298 | 58363298 | Human | | name |
| 151757809 | CV1475230 | single nucleotide variant | NM_017763.6(RNF43):c.548A>G (p.His183Arg) | Sessile serrated polyposis cancer syndrome [RCV003471092]|not provided [RCV001969844] | uncertain significance | 17 | 58363309 | 58363309 | Human | 1 | name |
| 151866011 | CV1484412 | single nucleotide variant | NM_017763.6(RNF43):c.791G>A (p.Ser264Asn) | not provided [RCV001959833]|not specified [RCV004847868] | uncertain significance | 17 | 58360841 | 58360841 | Human | | name |
| 151817075 | CV1485795 | single nucleotide variant | NM_017763.6(RNF43):c.508G>A (p.Glu170Lys) | not provided [RCV002029525]|not specified [RCV004857877] | likely benign|uncertain significance | 17 | 58363349 | 58363349 | Human | | name |
| 151769769 | CV1486727 | single nucleotide variant | NM_017763.6(RNF43):c.317T>G (p.Ile106Ser) | not provided [RCV001914870]|not specified [RCV005271447] | uncertain significance | 17 | 58370969 | 58370969 | Human | | name |
| 151735717 | CV1494437 | single nucleotide variant | NM_017763.6(RNF43):c.503A>G (p.Asp168Gly) | not provided [RCV001984687]|not specified [RCV002268586] | uncertain significance | 17 | 58363354 | 58363354 | Human | | name |
| 151757036 | CV1497049 | single nucleotide variant | NM_017763.6(RNF43):c.989G>A (p.Arg330Gln) | Sessile serrated polyposis cancer syndrome [RCV004571594]|not provided [RCV001913554]|not specified [RCV005271497] | likely benign|uncertain significance | 17 | 58358787 | 58358787 | Human | 1 | name |
| 151810071 | CV1497175 | single nucleotide variant | NM_017763.6(RNF43):c.905G>A (p.Trp302Ter) | not provided [RCV001974683] | uncertain significance | 17 | 58360196 | 58360196 | Human | | name |
| 151846854 | CV1507761 | single nucleotide variant | NM_017763.6(RNF43):c.920G>T (p.Arg307Leu) | not provided [RCV001978396] | uncertain significance | 17 | 58360181 | 58360181 | Human | | name |
| 152027535 | CV1628849 | single nucleotide variant | NM_017763.6(RNF43):c.811G>C (p.Val271Leu) | Hyperplastic polyposis syndrome [RCV005361958]|Sessile serrated polyposis cancer syndrome [RCV004572047]|not provided [RCV002104925] | likely benign|uncertain significance | 17 | 58360821 | 58360821 | Human | 1 | name |
| 153302914 | CV1690005 | single nucleotide variant | NM_017763.6(RNF43):c.301C>T (p.Pro101Ser) | not specified [RCV002268905] | uncertain significance | 17 | 58370985 | 58370985 | Human | | name |
| 10044804 | CV188056 | single nucleotide variant | NM_017763.6(RNF43):c.394C>T (p.Arg132Ter) | Colon serrated polyposis [RCV000170445]|Sessile serrated polyposis cancer syndrome [RCV000240616] | pathogenic | 17 | 58363582 | 58363582 | Human | 2 | name |
| 156404271 | CV1898178 | single nucleotide variant | NM_017763.6(RNF43):c.656G>A (p.Arg219His) | Sessile serrated polyposis cancer syndrome [RCV003465970]|not provided [RCV002585367] | uncertain significance | 17 | 58362575 | 58362575 | Human | 1 | name |
| 156031562 | CV1899695 | single nucleotide variant | NM_017763.6(RNF43):c.920G>A (p.Arg307Gln) | Sessile serrated polyposis cancer syndrome [RCV004572784]|not provided [RCV003084948]|not specified [RCV004073252] | uncertain significance | 17 | 58360181 | 58360181 | Human | 1 | name |
| 155960067 | CV1900315 | single nucleotide variant | NM_017763.6(RNF43):c.668G>A (p.Arg223His) | Sessile serrated polyposis cancer syndrome [RCV003465967]|not provided [RCV003095799]|not specified [RCV004073311] | uncertain significance | 17 | 58362563 | 58362563 | Human | 1 | name |
| 156029414 | CV1910515 | single nucleotide variant | NM_017763.6(RNF43):c.767G>A (p.Arg256Gln) | not provided [RCV002619782]|not specified [RCV004661578] | likely benign|uncertain significance | 17 | 58360865 | 58360865 | Human | | name |
| 156213428 | CV1914162 | single nucleotide variant | NM_017763.6(RNF43):c.455A>G (p.Gln152Arg) | Sessile serrated polyposis cancer syndrome [RCV004572796]|not provided [RCV002596157]|not specified [RCV005266567] | uncertain significance | 17 | 58363402 | 58363402 | Human | 1 | name |
| 156418881 | CV1918903 | single nucleotide variant | NM_017763.6(RNF43):c.970C>T (p.Gln324Ter) | not provided [RCV002612091] | uncertain significance | 17 | 58358806 | 58358806 | Human | | name |
| 156368827 | CV1919928 | single nucleotide variant | NM_017763.6(RNF43):c.461C>T (p.Pro154Leu) | not provided [RCV002603019] | uncertain significance | 17 | 58363396 | 58363396 | Human | | name |
| 156436500 | CV1943132 | single nucleotide variant | NM_017763.6(RNF43):c.466G>A (p.Gly156Arg) | Sessile serrated polyposis cancer syndrome [RCV003466014]|not provided [RCV003105541] | uncertain significance | 17 | 58363391 | 58363391 | Human | 1 | name |
| 156434011 | CV1946732 | single nucleotide variant | NM_017763.6(RNF43):c.433C>T (p.Arg145Ter) | not provided [RCV003104192] | uncertain significance | 17 | 58363543 | 58363543 | Human | | name |
| 156411842 | CV1973742 | single nucleotide variant | NM_017763.6(RNF43):c.684G>T (p.Arg228Ser) | not provided [RCV002608367] | uncertain significance | 17 | 58362547 | 58362547 | Human | | name |
| 156304605 | CV2013650 | single nucleotide variant | NM_017763.6(RNF43):c.730G>A (p.Ala244Thr) | Sessile serrated polyposis cancer syndrome [RCV003465819]|not provided [RCV002716217] | uncertain significance | 17 | 58360902 | 58360902 | Human | 1 | name |
| 156297040 | CV2017113 | single nucleotide variant | NM_017763.6(RNF43):c.377C>G (p.Ala126Gly) | not provided [RCV002715888] | uncertain significance | 17 | 58363599 | 58363599 | Human | | name |
| 156092541 | CV2030677 | single nucleotide variant | NM_017763.6(RNF43):c.778C>A (p.Pro260Thr) | not provided [RCV002761002] | uncertain significance | 17 | 58360854 | 58360854 | Human | | name |
| 156237278 | CV2036701 | single nucleotide variant | NM_017763.6(RNF43):c.802T>C (p.Ser268Pro) | not provided [RCV002805544]|not specified [RCV005266395] | uncertain significance | 17 | 58360830 | 58360830 | Human | | name |
| 156021162 | CV2040640 | single nucleotide variant | NM_017763.6(RNF43):c.500A>G (p.Asn167Ser) | not provided [RCV002795593]|not specified [RCV004064787] | uncertain significance | 17 | 58363357 | 58363357 | Human | | name |
| 156075473 | CV2056735 | single nucleotide variant | NM_017763.6(RNF43):c.673C>A (p.Arg225Ser) | not provided [RCV002823683] | uncertain significance | 17 | 58362558 | 58362558 | Human | | name |
| 156143090 | CV2123870 | single nucleotide variant | NM_017763.6(RNF43):c.965T>A (p.Phe322Tyr) | not provided [RCV002982385] | uncertain significance | 17 | 58358811 | 58358811 | Human | | name |
| 155914523 | CV2149687 | deletion | NM_017763.6(RNF43):c.1517del (p.Asp506fs) | not provided [RCV003012504] | uncertain significance | 17 | 58358259 | 58358259 | Human | | name |
| 156356126 | CV2165921 | single nucleotide variant | NM_017763.6(RNF43):c.859G>A (p.Val287Ile) | not provided [RCV003031245] | uncertain significance | 17 | 58360242 | 58360242 | Human | | name |
| 156327453 | CV2184489 | single nucleotide variant | NM_017763.6(RNF43):c.578C>T (p.Ala193Val) | Sessile serrated polyposis cancer syndrome [RCV003465908]|not provided [RCV003047013] | uncertain significance | 17 | 58363279 | 58363279 | Human | 1 | name |
| 156127507 | CV2283797 | single nucleotide variant | NM_017763.6(RNF43):c.763G>T (p.Ala255Ser) | not specified [RCV004142316] | uncertain significance | 17 | 58360869 | 58360869 | Human | | name |
| 156199137 | CV2293767 | single nucleotide variant | NM_005785.4(RNF41):c.582T>G (p.Ile194Met) | not specified [RCV004155049] | uncertain significance | 12 | 56207666 | 56207666 | Human | | name |
| 156048692 | CV2304447 | single nucleotide variant | NM_014771.4(RNF40):c.380C>T (p.Thr127Ile) | not specified [RCV004164542] | uncertain significance | 16 | 30763497 | 30763497 | Human | | name |
| 156268135 | CV2305731 | single nucleotide variant | NM_014901.5(RNF44):c.797G>A (p.Gly266Asp) | not specified [RCV004167548] | uncertain significance | 5 | 176530586 | 176530586 | Human | | name |
| 156350594 | CV2316233 | single nucleotide variant | NM_014771.4(RNF40):c.614G>A (p.Arg205Gln) | not specified [RCV004174267] | likely benign | 16 | 30764350 | 30764350 | Human | | name |
| 156294435 | CV2321410 | single nucleotide variant | NM_014901.5(RNF44):c.835A>G (p.Thr279Ala) | not specified [RCV004177399] | uncertain significance | 5 | 176530173 | 176530173 | Human | | name |
| 156258632 | CV2322161 | single nucleotide variant | NM_014901.5(RNF44):c.819G>A (p.Met273Ile) | not specified [RCV004175943] | uncertain significance | 5 | 176530189 | 176530189 | Human | | name |
| 156359059 | CV2328132 | single nucleotide variant | NM_014901.5(RNF44):c.872C>T (p.Pro291Leu) | not specified [RCV004173240] | uncertain significance | 5 | 176530136 | 176530136 | Human | | name |
| 156152727 | CV2328455 | single nucleotide variant | NM_017763.6(RNF43):c.538C>G (p.Gln180Glu) | Sessile serrated polyposis cancer syndrome [RCV003466006]|not provided [RCV003730317]|not specified [RCV004175840] | uncertain significance | 17 | 58363319 | 58363319 | Human | 1 | name |
| 156337892 | CV2343115 | single nucleotide variant | NM_005785.4(RNF41):c.353A>G (p.Gln118Arg) | not specified [RCV004192707] | uncertain significance | 12 | 56210306 | 56210306 | Human | | name |
| 156347399 | CV2349610 | single nucleotide variant | NM_014901.5(RNF44):c.650G>A (p.Arg217Gln) | not specified [RCV004204033] | uncertain significance | 5 | 176530733 | 176530733 | Human | | name |
| 156386364 | CV2364727 | single nucleotide variant | NM_014901.5(RNF44):c.769G>A (p.Asp257Asn) | not specified [RCV004219603] | uncertain significance | 5 | 176530614 | 176530614 | Human | | name |
| 156176164 | CV2374428 | single nucleotide variant | NM_014771.4(RNF40):c.635G>A (p.Arg212Gln) | not specified [RCV004231941] | uncertain significance | 16 | 30764371 | 30764371 | Human | | name |
| 156228172 | CV2392895 | single nucleotide variant | NM_014771.4(RNF40):c.692G>A (p.Arg231Gln) | not specified [RCV004247245] | uncertain significance | 16 | 30764980 | 30764980 | Human | | name |
| 156168453 | CV2399147 | single nucleotide variant | NM_014771.4(RNF40):c.647G>A (p.Arg216Gln) | not specified [RCV004246579] | uncertain significance | 16 | 30764383 | 30764383 | Human | | name |
| 243062461 | CV2404905 | single nucleotide variant | NM_017763.6(RNF43):c.800G>A (p.Ser267Asn) | Lynch syndrome 1 [RCV003140454] | uncertain significance | 17 | 58360832 | 58360832 | Human | | name |
| 329390535 | CV2437034 | single nucleotide variant | NM_014901.5(RNF44):c.532A>G (p.Ser178Gly) | not specified [RCV004262847] | uncertain significance | 5 | 176530955 | 176530955 | Human | | name |
| 329357666 | CV2453736 | single nucleotide variant | NM_014901.5(RNF44):c.572C>A (p.Pro191His) | not specified [RCV004269371] | likely benign | 5 | 176530915 | 176530915 | Human | | name |
| 329395842 | CV2454642 | single nucleotide variant | NM_014771.4(RNF40):c.734C>T (p.Thr245Ile) | not specified [RCV004268101] | uncertain significance | 16 | 30765022 | 30765022 | Human | | name |
| 11542223 | CV248607 | single nucleotide variant | NM_017763.6(RNF43):c.337C>T (p.Arg113Ter) | Sessile serrated polyposis cancer syndrome [RCV000240610]|not provided [RCV001854937] | pathogenic|conflicting interpretations of pathogenicity|uncertain significance | 17 | 58370949 | 58370949 | Human | 1 | name |
| 401752234 | CV2682749 | single nucleotide variant | NM_014901.5(RNF44):c.664G>A (p.Val222Met) | not specified [RCV004281724] | uncertain significance | 5 | 176530719 | 176530719 | Human | | name |
| 401735737 | CV2695388 | single nucleotide variant | NM_005785.4(RNF41):c.733G>A (p.Glu245Lys) | not specified [RCV004305593] | uncertain significance | 12 | 56206668 | 56206668 | Human | | name |
| 401719292 | CV2701032 | single nucleotide variant | NM_014771.4(RNF40):c.456G>C (p.Met152Ile) | not specified [RCV004309637] | uncertain significance | 16 | 30764192 | 30764192 | Human | | name |
| 401722781 | CV2703500 | single nucleotide variant | NM_017763.6(RNF43):c.887G>C (p.Arg296Pro) | not specified [RCV004317681] | uncertain significance | 17 | 58360214 | 58360214 | Human | | name |
| 401899911 | CV2765600 | single nucleotide variant | NM_014771.4(RNF40):c.613C>T (p.Arg205Trp) | not specified [RCV004335613] | uncertain significance | 16 | 30764349 | 30764349 | Human | | name |
| 401869635 | CV2772470 | single nucleotide variant | NM_014901.5(RNF44):c.373C>G (p.Gln125Glu) | not specified [RCV004355251] | uncertain significance | 5 | 176531555 | 176531555 | Human | | name |
| 401867715 | CV2780835 | single nucleotide variant | NM_014901.5(RNF44):c.316C>T (p.Pro106Ser) | not specified [RCV004352153] | uncertain significance | 5 | 176531612 | 176531612 | Human | | name |
| 401916610 | CV2808072 | single nucleotide variant | NM_017763.6(RNF43):c.518T>G (p.Met173Arg) | Sessile serrated polyposis cancer syndrome [RCV004572975]|not provided [RCV003429143] | uncertain significance | 17 | 58363339 | 58363339 | Human | 1 | name |
| 401948184 | CV2833416 | single nucleotide variant | NM_017763.6(RNF43):c.731C>A (p.Ala244Asp) | Sessile serrated polyposis cancer syndrome [RCV003471862] | uncertain significance | 17 | 58360901 | 58360901 | Human | 1 | name |
| 401948391 | CV2833422 | single nucleotide variant | NM_017763.6(RNF43):c.714G>A (p.Trp238Ter) | Sessile serrated polyposis cancer syndrome [RCV003471868] | uncertain significance | 17 | 58360918 | 58360918 | Human | 1 | name |
| 401948386 | CV2833424 | single nucleotide variant | NM_017763.6(RNF43):c.626T>C (p.Ile209Thr) | Sessile serrated polyposis cancer syndrome [RCV003471870] | uncertain significance | 17 | 58362605 | 58362605 | Human | 1 | name |
| 401948377 | CV2833427 | single nucleotide variant | NM_017763.6(RNF43):c.721A>G (p.Ser241Gly) | Sessile serrated polyposis cancer syndrome [RCV003471873]|not specified [RCV004847970] | uncertain significance | 17 | 58360911 | 58360911 | Human | 1 | name |
| 401948368 | CV2833430 | single nucleotide variant | NM_017763.6(RNF43):c.344C>T (p.Ala115Val) | Sessile serrated polyposis cancer syndrome [RCV003471876]|not provided [RCV003720926]|not specified [RCV005273696] | uncertain significance | 17 | 58370942 | 58370942 | Human | 1 | name |
| 401948351 | CV2833436 | single nucleotide variant | NM_017763.6(RNF43):c.563T>C (p.Leu188Pro) | Sessile serrated polyposis cancer syndrome [RCV003471882] | uncertain significance | 17 | 58363294 | 58363294 | Human | 1 | name |
| 401948241 | CV2833444 | single nucleotide variant | NM_017763.6(RNF43):c.820A>C (p.Ile274Leu) | Sessile serrated polyposis cancer syndrome [RCV003471890] | uncertain significance | 17 | 58360812 | 58360812 | Human | 1 | name |
| 401948196 | CV2833445 | single nucleotide variant | NM_017763.6(RNF43):c.937A>G (p.Met313Val) | Sessile serrated polyposis cancer syndrome [RCV003471891] | uncertain significance | 17 | 58360164 | 58360164 | Human | 1 | name |
| 401948202 | CV2833447 | single nucleotide variant | NM_017763.6(RNF43):c.779C>G (p.Pro260Arg) | Sessile serrated polyposis cancer syndrome [RCV003471893]|not provided [RCV003779102]|not specified [RCV005273700] | uncertain significance | 17 | 58360853 | 58360853 | Human | 1 | name |
| 401948212 | CV2833451 | single nucleotide variant | NM_017763.6(RNF43):c.364C>G (p.Leu122Val) | Sessile serrated polyposis cancer syndrome [RCV003471897] | uncertain significance | 17 | 58370922 | 58370922 | Human | 1 | name |
| 401948214 | CV2833452 | single nucleotide variant | NM_017763.6(RNF43):c.472A>G (p.Thr158Ala) | Sessile serrated polyposis cancer syndrome [RCV003471898] | uncertain significance | 17 | 58363385 | 58363385 | Human | 1 | name |
| 405006691 | CV2853010 | single nucleotide variant | NM_017763.6(RNF43):c.783C>G (p.Asp261Glu) | Hyperplastic polyposis syndrome [RCV005356458]|not specified [RCV003494204] | uncertain significance | 17 | 58360849 | 58360849 | Human | | name |
| 405039759 | CV2929917 | single nucleotide variant | NM_017763.6(RNF43):c.977T>C (p.Leu326Pro) | not provided [RCV003579010] | uncertain significance | 17 | 58358799 | 58358799 | Human | | name |
| 405235315 | CV2972557 | single nucleotide variant | NM_017763.6(RNF43):c.514C>A (p.Leu172Met) | not provided [RCV003682919] | uncertain significance | 17 | 58363343 | 58363343 | Human | | name |
| 405233963 | CV2975359 | single nucleotide variant | NM_017763.6(RNF43):c.929C>T (p.Pro310Leu) | not provided [RCV003682634] | uncertain significance | 17 | 58360172 | 58360172 | Human | | name |
| 405191976 | CV2984914 | single nucleotide variant | NM_017763.6(RNF43):c.334C>T (p.Pro112Ser) | not provided [RCV003706548] | uncertain significance | 17 | 58370952 | 58370952 | Human | | name |
| 405132674 | CV3021979 | single nucleotide variant | NM_017763.6(RNF43):c.314G>A (p.Ser105Asn) | not provided [RCV003701812] | uncertain significance | 17 | 58370972 | 58370972 | Human | | name |
| 405048739 | CV3025365 | deletion | NM_017763.6(RNF43):c.1109del (p.Pro370fs) | not provided [RCV003696850] | uncertain significance | 17 | 58358667 | 58358667 | Human | | name |
| 405252001 | CV3046361 | single nucleotide variant | NM_017763.6(RNF43):c.959A>G (p.Asp320Gly) | not provided [RCV003722055] | uncertain significance | 17 | 58358817 | 58358817 | Human | | name |
| 405134776 | CV3051962 | single nucleotide variant | NM_017763.6(RNF43):c.809C>T (p.Pro270Leu) | not provided [RCV003725140] | uncertain significance | 17 | 58360823 | 58360823 | Human | | name |
| 405127401 | CV3053698 | single nucleotide variant | NM_017763.6(RNF43):c.356G>A (p.Cys119Tyr) | not provided [RCV003724504] | uncertain significance | 17 | 58370930 | 58370930 | Human | | name |
| 405254140 | CV3055039 | single nucleotide variant | NM_017763.6(RNF43):c.656G>T (p.Arg219Leu) | not provided [RCV003722869] | uncertain significance | 17 | 58362575 | 58362575 | Human | | name |
| 405208413 | CV3065413 | single nucleotide variant | NM_017763.6(RNF43):c.886C>T (p.Arg296Cys) | Sessile serrated polyposis cancer syndrome [RCV004573270]|not provided [RCV003731644]|not specified [RCV005273865] | uncertain significance | 17 | 58360215 | 58360215 | Human | 1 | name |
| 405228702 | CV3065909 | single nucleotide variant | NM_017763.6(RNF43):c.869G>A (p.Cys290Tyr) | not provided [RCV003734515] | uncertain significance | 17 | 58360232 | 58360232 | Human | | name |
| 405227185 | CV3069523 | single nucleotide variant | NM_017763.6(RNF43):c.737G>C (p.Arg246Thr) | not provided [RCV003734254]|not specified [RCV004857996] | uncertain significance | 17 | 58360895 | 58360895 | Human | | name |
| 405171005 | CV3122529 | single nucleotide variant | NM_017763.6(RNF43):c.636C>G (p.Ile212Met) | Sessile serrated polyposis cancer syndrome [RCV005014986]|not provided [RCV003819118]|not specified [RCV004847992] | uncertain significance | 17 | 58362595 | 58362595 | Human | 1 | name |
| 405745571 | CV3226272 | deletion | NM_017763.6(RNF43):c.1995del (p.Gly666fs) | Sessile serrated polyposis cancer syndrome [RCV003991263] | pathogenic | 17 | 58357781 | 58357781 | Human | 1 | name |
| 405699525 | CV3309518 | single nucleotide variant | NM_014901.5(RNF44):c.637A>T (p.Met213Leu) | not specified [RCV004446786] | uncertain significance | 5 | 176530850 | 176530850 | Human | | name |
| 405699519 | CV3309519 | single nucleotide variant | NM_014901.5(RNF44):c.649C>T (p.Arg217Trp) | not specified [RCV004446787] | uncertain significance | 5 | 176530734 | 176530734 | Human | | name |
| 405699514 | CV3309520 | single nucleotide variant | NM_014901.5(RNF44):c.740C>T (p.Pro247Leu) | not specified [RCV004446788] | uncertain significance | 5 | 176530643 | 176530643 | Human | | name |
| 405699125 | CV3313387 | single nucleotide variant | NM_014771.4(RNF40):c.391C>T (p.Pro131Ser) | not specified [RCV004446763] | uncertain significance | 16 | 30763508 | 30763508 | Human | | name |
| 405699131 | CV3313388 | single nucleotide variant | NM_014771.4(RNF40):c.647G>C (p.Arg216Pro) | not specified [RCV004446764] | uncertain significance | 16 | 30764383 | 30764383 | Human | | name |
| 405699146 | CV3313391 | single nucleotide variant | NM_005785.4(RNF41):c.718G>C (p.Ala240Pro) | not specified [RCV004446767] | uncertain significance | 12 | 56206683 | 56206683 | Human | | name |
| 405699620 | CV3313395 | single nucleotide variant | NM_017763.6(RNF43):c.325C>G (p.Leu109Val) | not specified [RCV004446771] | uncertain significance | 17 | 58370961 | 58370961 | Human | | name |
| 405699613 | CV3313396 | single nucleotide variant | NM_017763.6(RNF43):c.766C>G (p.Arg256Gly) | not specified [RCV004446772] | uncertain significance | 17 | 58360866 | 58360866 | Human | | name |
| 405699565 | CV3313404 | single nucleotide variant | NM_014901.5(RNF44):c.307G>A (p.Gly103Arg) | not specified [RCV004446780] | uncertain significance | 5 | 176531621 | 176531621 | Human | | name |
| 405699551 | CV3313406 | single nucleotide variant | NM_014901.5(RNF44):c.394G>A (p.Ala132Thr) | not specified [RCV004446782] | uncertain significance | 5 | 176531534 | 176531534 | Human | | name |
| 405699541 | CV3313407 | single nucleotide variant | NM_014901.5(RNF44):c.512C>T (p.Ala171Val) | not specified [RCV004446783] | uncertain significance | 5 | 176530975 | 176530975 | Human | | name |
| 405699536 | CV3313408 | single nucleotide variant | NM_014901.5(RNF44):c.542A>T (p.Tyr181Phe) | not specified [RCV004446784] | uncertain significance | 5 | 176530945 | 176530945 | Human | | name |
| 405699530 | CV3313409 | single nucleotide variant | NM_014901.5(RNF44):c.595C>T (p.Pro199Ser) | not specified [RCV004446785] | uncertain significance | 5 | 176530892 | 176530892 | Human | | name |
| 405871293 | CV3399339 | single nucleotide variant | NM_017763.6(RNF43):c.467G>C (p.Gly156Ala) | Sessile serrated polyposis cancer syndrome [RCV004574770] | uncertain significance | 17 | 58363390 | 58363390 | Human | 1 | name |
| 405871304 | CV3399346 | single nucleotide variant | NM_017763.6(RNF43):c.571C>A (p.Pro191Thr) | Sessile serrated polyposis cancer syndrome [RCV004574777] | uncertain significance | 17 | 58363286 | 58363286 | Human | 1 | name |
| 405871314 | CV3399352 | single nucleotide variant | NM_017763.6(RNF43):c.962C>T (p.Ser321Leu) | Sessile serrated polyposis cancer syndrome [RCV004574783] | uncertain significance | 17 | 58358814 | 58358814 | Human | 1 | name |
| 405871325 | CV3399360 | single nucleotide variant | NM_017763.6(RNF43):c.658A>C (p.Ile220Leu) | Sessile serrated polyposis cancer syndrome [RCV004574791] | uncertain significance | 17 | 58362573 | 58362573 | Human | 1 | name |
| 407457837 | CV3416233 | single nucleotide variant | NM_017763.6(RNF43):c.809C>G (p.Pro270Arg) | not provided [RCV004599111] | uncertain significance | 17 | 58360823 | 58360823 | Human | | name |
| 407486863 | CV3479775 | single nucleotide variant | NM_017763.6(RNF43):c.907T>A (p.Leu303Ile) | not specified [RCV004665532] | uncertain significance | 17 | 58360194 | 58360194 | Human | | name |
| 407486869 | CV3479776 | single nucleotide variant | NM_014901.5(RNF44):c.643C>T (p.Leu215Phe) | not specified [RCV004665533] | uncertain significance | 5 | 176530740 | 176530740 | Human | | name |
| 407486874 | CV3479777 | single nucleotide variant | NM_014901.5(RNF44):c.329C>T (p.Thr110Met) | not specified [RCV004665534] | uncertain significance | 5 | 176531599 | 176531599 | Human | | name |
| 408381472 | CV3501909 | single nucleotide variant | NM_017763.6(RNF43):c.346C>T (p.Pro116Ser) | not provided [RCV004729437] | uncertain significance | 17 | 58370940 | 58370940 | Human | | name |
| 408382090 | CV3502104 | single nucleotide variant | NM_017763.6(RNF43):c.608T>C (p.Met203Thr) | not provided [RCV004729632] | uncertain significance | 17 | 58362623 | 58362623 | Human | | name |
| 408373895 | CV3502363 | single nucleotide variant | NM_017763.6(RNF43):c.605T>C (p.Leu202Pro) | not provided [RCV004725950]|not specified [RCV005274055] | uncertain significance | 17 | 58362626 | 58362626 | Human | | name |
| 408391386 | CV3527979 | single nucleotide variant | NM_017763.6(RNF43):c.341G>A (p.Arg114Gln) | not provided [RCV004775251] | uncertain significance | 17 | 58370945 | 58370945 | Human | | name |
| 408392246 | CV3528054 | single nucleotide variant | NM_017763.6(RNF43):c.344C>A (p.Ala115Asp) | not provided [RCV004775822]|not specified [RCV005269058] | uncertain significance | 17 | 58370942 | 58370942 | Human | | name |
| 408385721 | CV3528648 | single nucleotide variant | NM_017763.6(RNF43):c.452T>C (p.Leu151Pro) | not provided [RCV004772481] | uncertain significance | 17 | 58363405 | 58363405 | Human | | name |
| 408388698 | CV3529054 | single nucleotide variant | NM_017763.6(RNF43):c.584C>T (p.Pro195Leu) | Sessile serrated polyposis cancer syndrome [RCV005023704]|not provided [RCV004773876] | uncertain significance | 17 | 58362647 | 58362647 | Human | 1 | name |
| 596925896 | CV3530619 | single nucleotide variant | NM_017763.6(RNF43):c.982C>T (p.Pro328Ser) | not provided [RCV004778204] | uncertain significance | 17 | 58358794 | 58358794 | Human | | name |
| 596929170 | CV3530988 | single nucleotide variant | NM_017763.6(RNF43):c.347C>T (p.Pro116Leu) | not provided [RCV004779562] | uncertain significance | 17 | 58370939 | 58370939 | Human | | name |
| 596922460 | CV3537237 | single nucleotide variant | NM_017763.6(RNF43):c.325C>A (p.Leu109Met) | not provided [RCV004786233] | uncertain significance | 17 | 58370961 | 58370961 | Human | | name |
| 597687954 | CV3590479 | single nucleotide variant | NM_014771.4(RNF40):c.548G>A (p.Gly183Asp) | not specified [RCV004858550] | uncertain significance | 16 | 30764284 | 30764284 | Human | | name |
| 597687971 | CV3590481 | single nucleotide variant | NM_014771.4(RNF40):c.703C>G (p.Arg235Gly) | not specified [RCV004858552] | uncertain significance | 16 | 30764991 | 30764991 | Human | | name |
| 597755317 | CV3590482 | single nucleotide variant | NM_014771.4(RNF40):c.602G>A (p.Arg201His) | not specified [RCV004847586] | uncertain significance | 16 | 30764338 | 30764338 | Human | | name |
| 597755326 | CV3590484 | single nucleotide variant | NM_014771.4(RNF40):c.674C>T (p.Ala225Val) | not specified [RCV004847588] | likely benign | 16 | 30764962 | 30764962 | Human | | name |
| 597687979 | CV3590485 | single nucleotide variant | NM_014771.4(RNF40):c.580C>T (p.Arg194Cys) | not specified [RCV004858553] | uncertain significance | 16 | 30764316 | 30764316 | Human | | name |
| 597755330 | CV3590486 | single nucleotide variant | NM_014771.4(RNF40):c.869G>A (p.Arg290Gln) | not specified [RCV004847589] | uncertain significance | 16 | 30765278 | 30765278 | Human | | name |
| 597688008 | CV3590489 | single nucleotide variant | NM_014771.4(RNF40):c.715C>G (p.Arg239Gly) | not specified [RCV004858556] | uncertain significance | 16 | 30765003 | 30765003 | Human | | name |
| 597755339 | CV3590492 | single nucleotide variant | NM_014771.4(RNF40):c.875G>A (p.Arg292Gln) | not specified [RCV004847591] | uncertain significance | 16 | 30765284 | 30765284 | Human | | name |
| 597755343 | CV3590493 | single nucleotide variant | NM_005785.4(RNF41):c.826G>C (p.Val276Leu) | not specified [RCV004847592] | uncertain significance | 12 | 56206575 | 56206575 | Human | | name |
| 597688027 | CV3590494 | single nucleotide variant | NM_005785.4(RNF41):c.808C>T (p.Arg270Cys) | not specified [RCV004858558] | uncertain significance | 12 | 56206593 | 56206593 | Human | | name |
| 597688139 | CV3590515 | single nucleotide variant | NM_017763.6(RNF43):c.817G>A (p.Ala273Thr) | not specified [RCV004858570] | uncertain significance | 17 | 58360815 | 58360815 | Human | | name |
| 597755387 | CV3590516 | single nucleotide variant | NM_017763.6(RNF43):c.946A>G (p.Ile316Val) | not specified [RCV004847602] | uncertain significance | 17 | 58360155 | 58360155 | Human | | name |
| 597688161 | CV3590518 | single nucleotide variant | NM_017763.6(RNF43):c.782A>T (p.Asp261Val) | not specified [RCV004858572] | uncertain significance | 17 | 58360850 | 58360850 | Human | | name |
| 597755391 | CV3590521 | single nucleotide variant | NM_017763.6(RNF43):c.728T>C (p.Leu243Pro) | not specified [RCV004847603] | uncertain significance | 17 | 58360904 | 58360904 | Human | | name |
| 597755395 | CV3590522 | single nucleotide variant | NM_017763.6(RNF43):c.830A>T (p.Glu277Val) | not specified [RCV004847604] | uncertain significance | 17 | 58360802 | 58360802 | Human | | name |
| 597688258 | CV3590535 | single nucleotide variant | NM_017763.6(RNF43):c.534G>C (p.Lys178Asn) | not specified [RCV004858582] | uncertain significance | 17 | 58363323 | 58363323 | Human | | name |
| 597755460 | CV3590557 | single nucleotide variant | NM_017763.6(RNF43):c.320T>C (p.Val107Ala) | not specified [RCV004847620] | uncertain significance | 17 | 58370966 | 58370966 | Human | | name |
| 597688373 | CV3590561 | single nucleotide variant | NM_017763.6(RNF43):c.980G>A (p.Gly327Glu) | not specified [RCV004858595] | uncertain significance | 17 | 58358796 | 58358796 | Human | | name |
| 597755471 | CV3590562 | single nucleotide variant | NM_017763.6(RNF43):c.716C>T (p.Ala239Val) | not specified [RCV004847623] | uncertain significance | 17 | 58360916 | 58360916 | Human | | name |
| 597755475 | CV3590564 | single nucleotide variant | NM_014901.5(RNF44):c.661G>A (p.Asp221Asn) | not specified [RCV004847624] | uncertain significance | 5 | 176530722 | 176530722 | Human | | name |
| 597688394 | CV3590565 | single nucleotide variant | NM_014901.5(RNF44):c.398A>G (p.Gln133Arg) | not specified [RCV004858597] | uncertain significance | 5 | 176531530 | 176531530 | Human | | name |
| 597688404 | CV3590567 | single nucleotide variant | NM_014901.5(RNF44):c.719C>T (p.Ala240Val) | not specified [RCV004858598] | uncertain significance | 5 | 176530664 | 176530664 | Human | | name |
| 597688413 | CV3590568 | single nucleotide variant | NM_014901.5(RNF44):c.916C>T (p.Pro306Ser) | not specified [RCV004858599] | uncertain significance | 5 | 176530092 | 176530092 | Human | | name |
| 597633445 | CV3705365 | single nucleotide variant | NM_017763.6(RNF43):c.820A>G (p.Ile274Val) | Sessile serrated polyposis cancer syndrome [RCV005023827] | uncertain significance | 17 | 58360812 | 58360812 | Human | 1 | name |
| 597770995 | CV3705366 | single nucleotide variant | NM_017763.6(RNF43):c.649G>T (p.Val217Leu) | Sessile serrated polyposis cancer syndrome [RCV005020541] | uncertain significance | 17 | 58362582 | 58362582 | Human | 1 | name |
| 597633459 | CV3705367 | single nucleotide variant | NM_017763.6(RNF43):c.323A>G (p.Lys108Arg) | Sessile serrated polyposis cancer syndrome [RCV005023829] | uncertain significance | 17 | 58370963 | 58370963 | Human | 1 | name |
| 597840128 | CV3756035 | single nucleotide variant | NM_017763.6(RNF43):c.400G>A (p.Ala134Thr) | not provided [RCV005086307] | uncertain significance | 17 | 58363576 | 58363576 | Human | | name |
| 597927842 | CV3788731 | single nucleotide variant | NM_017763.6(RNF43):c.793A>T (p.Ser265Cys) | not provided [RCV005131209] | uncertain significance | 17 | 58360839 | 58360839 | Human | | name |
| 597949390 | CV3801424 | single nucleotide variant | NM_017763.6(RNF43):c.404G>C (p.Ser135Thr) | not provided [RCV005135604] | uncertain significance | 17 | 58363572 | 58363572 | Human | | name |
| 597945738 | CV3844936 | single nucleotide variant | NM_017763.6(RNF43):c.571C>T (p.Pro191Ser) | not provided [RCV005188922] | uncertain significance | 17 | 58363286 | 58363286 | Human | | name |
| 597948465 | CV3852504 | single nucleotide variant | NM_017763.6(RNF43):c.610A>T (p.Thr204Ser) | not provided [RCV005189582] | uncertain significance | 17 | 58362621 | 58362621 | Human | | name |
| 597906069 | CV3853219 | single nucleotide variant | NM_017763.6(RNF43):c.557T>C (p.Ile186Thr) | not provided [RCV005202876] | uncertain significance | 17 | 58363300 | 58363300 | Human | | name |
| 597887645 | CV3859361 | single nucleotide variant | NM_017763.6(RNF43):c.393G>T (p.Glu131Asp) | not provided [RCV005200017]|not specified [RCV005269220] | uncertain significance | 17 | 58363583 | 58363583 | Human | | name |
| 598124111 | CV3881265 | single nucleotide variant | NM_017763.6(RNF43):c.341G>T (p.Arg114Leu) | Sessile serrated polyposis cancer syndrome [RCV005393013]|not specified [RCV005231689] | uncertain significance | 17 | 58370945 | 58370945 | Human | 1 | name |
| 598124021 | CV3884012 | single nucleotide variant | NM_017763.6(RNF43):c.670C>T (p.Pro224Ser) | not provided [RCV005234839] | uncertain significance | 17 | 58362561 | 58362561 | Human | | name |
| 598203749 | CV3896523 | deletion | NM_017763.6(RNF43):c.2097del (p.Ile700fs) | Hyperplastic polyposis syndrome [RCV005356752] | uncertain significance | 17 | 58357679 | 58357679 | Human | | name |
| 598203755 | CV3896524 | deletion | NM_017763.6(RNF43):c.2248del (p.Asp750fs) | Sessile serrated polyposis cancer syndrome [RCV005356753] | uncertain significance | 17 | 58357528 | 58357528 | Human | 1 | name |
| 598205435 | CV3909680 | single nucleotide variant | NM_014771.4(RNF40):c.859G>A (p.Glu287Lys) | not specified [RCV005269699] | uncertain significance | 16 | 30765268 | 30765268 | Human | | name |
| 598205461 | CV3909684 | single nucleotide variant | NM_014771.4(RNF40):c.856A>G (p.Ile286Val) | not specified [RCV005269703] | uncertain significance | 16 | 30765265 | 30765265 | Human | | name |
| 598205489 | CV3909688 | single nucleotide variant | NM_005785.4(RNF41):c.464C>T (p.Thr155Met) | not specified [RCV005269707] | uncertain significance | 12 | 56208197 | 56208197 | Human | | name |
| 598205497 | CV3909689 | single nucleotide variant | NM_005785.4(RNF41):c.416G>A (p.Arg139His) | not specified [RCV005269708] | uncertain significance | 12 | 56208245 | 56208245 | Human | | name |
| 598205540 | CV3909695 | single nucleotide variant | NM_017763.6(RNF43):c.977T>G (p.Leu326Arg) | not specified [RCV005269714] | uncertain significance | 17 | 58358799 | 58358799 | Human | | name |
| 598205546 | CV3909696 | single nucleotide variant | NM_017763.6(RNF43):c.974C>G (p.Ser325Cys) | not specified [RCV005269715] | uncertain significance | 17 | 58358802 | 58358802 | Human | | name |
| 598205635 | CV3909708 | single nucleotide variant | NM_017763.6(RNF43):c.884A>G (p.His295Arg) | not specified [RCV005269727] | uncertain significance | 17 | 58360217 | 58360217 | Human | | name |
| 598205659 | CV3909711 | single nucleotide variant | NM_017763.6(RNF43):c.556A>G (p.Ile186Val) | not specified [RCV005269730] | uncertain significance | 17 | 58363301 | 58363301 | Human | | name |
| 598205700 | CV3909716 | single nucleotide variant | NM_017763.6(RNF43):c.386C>T (p.Ala129Val) | not specified [RCV005269735] | uncertain significance | 17 | 58363590 | 58363590 | Human | | name |
| 598205759 | CV3909725 | single nucleotide variant | NM_017763.6(RNF43):c.638T>C (p.Ile213Thr) | not specified [RCV005269744] | uncertain significance | 17 | 58362593 | 58362593 | Human | | name |
| 598205840 | CV3909737 | single nucleotide variant | NM_017763.6(RNF43):c.590A>G (p.Tyr197Cys) | not specified [RCV005269756] | uncertain significance | 17 | 58362641 | 58362641 | Human | | name |
| 598205848 | CV3909738 | single nucleotide variant | NM_017763.6(RNF43):c.338G>A (p.Arg113Gln) | not specified [RCV005269757] | likely benign | 17 | 58370948 | 58370948 | Human | | name |
| 598205904 | CV3909747 | single nucleotide variant | NM_017763.6(RNF43):c.685C>A (p.Pro229Thr) | not specified [RCV005269766] | uncertain significance | 17 | 58362546 | 58362546 | Human | | name |
| 598205977 | CV3909759 | single nucleotide variant | NM_017763.6(RNF43):c.302C>T (p.Pro101Leu) | not specified [RCV005269778] | uncertain significance | 17 | 58370984 | 58370984 | Human | | name |
| 598206004 | CV3909763 | single nucleotide variant | NM_017763.6(RNF43):c.806C>T (p.Ala269Val) | not specified [RCV005269782] | uncertain significance | 17 | 58360826 | 58360826 | Human | | name |
| 598206075 | CV3909774 | single nucleotide variant | NM_017763.6(RNF43):c.983C>T (p.Pro328Leu) | not specified [RCV005269793] | uncertain significance | 17 | 58358793 | 58358793 | Human | | name |
| 598206121 | CV3909781 | single nucleotide variant | NM_017763.6(RNF43):c.931C>G (p.Leu311Val) | not specified [RCV005269800] | uncertain significance | 17 | 58360170 | 58360170 | Human | | name |
| 598206127 | CV3909782 | single nucleotide variant | NM_017763.6(RNF43):c.794G>C (p.Ser265Thr) | not specified [RCV005269801] | uncertain significance | 17 | 58360838 | 58360838 | Human | | name |
| 598206163 | CV3909787 | single nucleotide variant | NM_017763.6(RNF43):c.587A>T (p.Asp196Val) | not specified [RCV005269806] | uncertain significance | 17 | 58362644 | 58362644 | Human | | name |
| 598206188 | CV3909791 | single nucleotide variant | NM_017763.6(RNF43):c.367G>A (p.Ala123Thr) | not specified [RCV005269810] | uncertain significance | 17 | 58370919 | 58370919 | Human | | name |
| 598206202 | CV3909793 | single nucleotide variant | NM_017763.6(RNF43):c.409G>A (p.Val137Ile) | not specified [RCV005269812] | uncertain significance | 17 | 58363567 | 58363567 | Human | | name |
| 598206220 | CV3909796 | single nucleotide variant | NM_017763.6(RNF43):c.338G>C (p.Arg113Pro) | not specified [RCV005269815] | uncertain significance | 17 | 58370948 | 58370948 | Human | | name |
| 598206233 | CV3909798 | single nucleotide variant | NM_017763.6(RNF43):c.601A>G (p.Ile201Val) | not specified [RCV005269817] | uncertain significance | 17 | 58362630 | 58362630 | Human | | name |
| 598206251 | CV3909801 | single nucleotide variant | NM_017763.6(RNF43):c.727C>A (p.Leu243Met) | not specified [RCV005269820] | uncertain significance | 17 | 58360905 | 58360905 | Human | | name |
| 598206358 | CV3909818 | single nucleotide variant | NM_017763.6(RNF43):c.701A>G (p.Gln234Arg) | not specified [RCV005269837] | uncertain significance | 17 | 58360931 | 58360931 | Human | | name |
| 598206398 | CV3909825 | single nucleotide variant | NM_014901.5(RNF44):c.346A>C (p.Thr116Pro) | not specified [RCV005269844] | uncertain significance | 5 | 176531582 | 176531582 | Human | | name |
| 598206409 | CV3909827 | single nucleotide variant | NM_014901.5(RNF44):c.563C>T (p.Pro188Leu) | not specified [RCV005269846] | uncertain significance | 5 | 176530924 | 176530924 | Human | | name |
| 598206415 | CV3909828 | single nucleotide variant | NM_014901.5(RNF44):c.808T>C (p.Ser270Pro) | not specified [RCV005269847] | uncertain significance | 5 | 176530200 | 176530200 | Human | | name |
| 15110484 | CV725200 | single nucleotide variant | NM_005785.4(RNF41):c.408G>C (p.Lys136Asn) | not provided [RCV000894074] | benign | 12 | 56208253 | 56208253 | Human | | name |
| 15121750 | CV755984 | single nucleotide variant | NM_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 significance | 17 | 58358806 | 58358806 | Human | 1 | name |
| 26897148 | CV845680 | single nucleotide variant | NM_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 significance | 17 | 58362591 | 58362591 | Human | 1 | name |
| 26884596 | CV845681 | single nucleotide variant | NM_017763.6(RNF43):c.627C>G (p.Ile209Met) | not provided [RCV001052064] | uncertain significance | 17 | 58362604 | 58362604 | Human | | name |
| 26888777 | CV845682 | single nucleotide variant | NM_017763.6(RNF43):c.349C>T (p.Arg117Cys) | not provided [RCV001057716]|not specified [RCV005268890] | uncertain significance | 17 | 58370937 | 58370937 | Human | | name |
| 38466958 | CV920919 | single nucleotide variant | NM_017763.6(RNF43):c.988C>T (p.Arg330Ter) | Sessile serrated polyposis cancer syndrome [RCV003227932]|not provided [RCV001200226] | likely pathogenic | 17 | 58358788 | 58358788 | Human | 1 | name |
| 38470370 | CV938046 | single nucleotide variant | NM_017763.6(RNF43):c.875A>G (p.His292Arg) | not provided [RCV001202574] | uncertain significance | 17 | 58360226 | 58360226 | Human | | name |
| 38467143 | CV938048 | single nucleotide variant | NM_017763.6(RNF43):c.680G>A (p.Ser227Asn) | Hyperplastic polyposis syndrome [RCV005359930]|not provided [RCV001201970] | uncertain significance | 17 | 58362551 | 58362551 | Human | | name |
| 38477121 | CV938049 | single nucleotide variant | NM_017763.6(RNF43):c.667C>T (p.Arg223Cys) | Sessile serrated polyposis cancer syndrome [RCV003469331]|not provided [RCV001204947]|not specified [RCV004033632] | uncertain significance | 17 | 58362564 | 58362564 | Human | 1 | name |
| 38479750 | CV950058 | single nucleotide variant | NM_017763.6(RNF43):c.833A>T (p.Glu278Val) | Sessile serrated polyposis cancer syndrome [RCV003469426]|not provided [RCV001234468] | uncertain significance | 17 | 58360799 | 58360799 | Human | 1 | name |
| 38487029 | CV950059 | single nucleotide variant | NM_017763.6(RNF43):c.655C>T (p.Arg219Cys) | Sessile serrated polyposis cancer syndrome [RCV003469442]|not provided [RCV001237404]|not specified [RCV002268460] | uncertain significance | 17 | 58362576 | 58362576 | Human | 1 | name |
| 38483274 | CV950060 | single nucleotide variant | NM_017763.6(RNF43):c.497G>A (p.Gly166Asp) | Sessile serrated polyposis cancer syndrome [RCV004570595]|not provided [RCV001235853]|not specified [RCV005269003] | uncertain significance | 17 | 58363360 | 58363360 | Human | 1 | name |
| 38475114 | CV950061 | single nucleotide variant | NM_017763.6(RNF43):c.421A>G (p.Ile141Val) | not provided [RCV001232482] | uncertain significance | 17 | 58363555 | 58363555 | Human | | name |
| 38483299 | CV950062 | single nucleotide variant | NM_017763.6(RNF43):c.395G>A (p.Arg132Gln) | not provided [RCV001235866]|not specified [RCV004596428] | uncertain significance | 17 | 58363581 | 58363581 | Human | | name |
| 38486567 | CV950064 | single nucleotide variant | NM_017763.6(RNF43):c.343G>T (p.Ala115Ser) | Sessile serrated polyposis cancer syndrome [RCV003469440]|not provided [RCV001237225]|not specified [RCV005269007] | likely benign|uncertain significance | 17 | 58370943 | 58370943 | Human | 1 | name |
| 38496052 | CV958205 | single nucleotide variant | NM_017763.6(RNF43):c.887G>A (p.Arg296His) | Sessile serrated polyposis cancer syndrome [RCV003469462]|not provided [RCV001242330]|not specified [RCV005269015] | uncertain significance | 17 | 58360214 | 58360214 | Human | 1 | name |
| 126762501 | CV997695 | single nucleotide variant | NM_017763.6(RNF43):c.910C>T (p.His304Tyr) | not provided [RCV001309907] | uncertain significance | 17 | 58360191 | 58360191 | Human | | name |
| 126758886 | CV997696 | single nucleotide variant | NM_017763.6(RNF43):c.852G>T (p.Glu284Asp) | not provided [RCV001299325] | uncertain significance | 17 | 58360249 | 58360249 | Human | | name |
| 126749387 | CV997697 | single nucleotide variant | NM_017763.6(RNF43):c.766C>T (p.Arg256Trp) | Sessile serrated polyposis cancer syndrome [RCV004570680]|not provided [RCV001297124]|not specified [RCV004036060] | uncertain significance | 17 | 58360866 | 58360866 | Human | 1 | name |
| 126737725 | CV997698 | single nucleotide variant | NM_017763.6(RNF43):c.749C>A (p.Ala250Asp) | Sessile serrated polyposis cancer syndrome [RCV004570711]|not provided [RCV001304914]|not specified [RCV004857780] | uncertain significance | 17 | 58360883 | 58360883 | Human | 1 | name |
| 126760394 | CV997699 | single nucleotide variant | NM_017763.6(RNF43):c.683G>A (p.Arg228Lys) | Sessile serrated polyposis cancer syndrome [RCV003469523]|not provided [RCV001299781]|not specified [RCV004857778] | uncertain significance | 17 | 58362548 | 58362548 | Human | 1 | name |
| 126766793 | CV997700 | single nucleotide variant | NM_017763.6(RNF43):c.599G>A (p.Trp200Ter) | not provided [RCV001302034] | uncertain significance | 17 | 58362632 | 58362632 | Human | | name |
| 126762117 | CV997701 | single nucleotide variant | NM_017763.6(RNF43):c.547C>G (p.His183Asp) | not provided [RCV001309795] | uncertain significance | 17 | 58363310 | 58363310 | Human | | name |
| 151883735 | CV1338125 | single nucleotide variant | NM_017763.6(RNF43):c.1217C>T (p.Ala406Val) | not provided [RCV001962192]|not specified [RCV004847843] | uncertain significance | 17 | 58358559 | 58358559 | Human | | name |
| 151872196 | CV1339488 | single nucleotide variant | NM_017763.6(RNF43):c.1589C>T (p.Pro530Leu) | not provided [RCV002035820] | uncertain significance | 17 | 58358187 | 58358187 | Human | | name |
| 151855009 | CV1344487 | single nucleotide variant | NM_017763.6(RNF43):c.2243G>A (p.Ser748Asn) | not provided [RCV001923285] | uncertain significance | 17 | 58357533 | 58357533 | Human | | name |
| 151890528 | CV1348994 | single nucleotide variant | NM_017763.6(RNF43):c.1465G>C (p.Gly489Arg) | Sessile serrated polyposis cancer syndrome [RCV004571599]|not provided [RCV001943066] | uncertain significance | 17 | 58358311 | 58358311 | Human | 1 | name |
| 151833199 | CV1388311 | single nucleotide variant | NM_017763.6(RNF43):c.2135C>T (p.Pro712Leu) | not provided [RCV001955881]|not specified [RCV004043680] | uncertain significance | 17 | 58357641 | 58357641 | Human | | name |
| 151880357 | CV1388467 | single nucleotide variant | NM_017763.6(RNF43):c.2234C>T (p.Ser745Phe) | not provided [RCV001982449] | uncertain significance | 17 | 58357542 | 58357542 | Human | | name |
| 151882094 | CV1402424 | single nucleotide variant | NM_017763.6(RNF43):c.1112G>A (p.Arg371Gln) | not provided [RCV001961848]|not specified [RCV002268580] | uncertain significance | 17 | 58358664 | 58358664 | Human | | name |
| 151865333 | CV1406055 | single nucleotide variant | NM_017763.6(RNF43):c.1654C>T (p.Arg552Cys) | Sessile serrated polyposis cancer syndrome [RCV003471077]|not provided [RCV001959756]|not specified [RCV002465911] | uncertain significance | 17 | 58358122 | 58358122 | Human | 1 | name |
| 151834935 | CV1420039 | single nucleotide variant | NM_017763.6(RNF43):c.2287C>T (p.Gln763Ter) | not provided [RCV001977033]|not specified [RCV005271606] | uncertain significance | 17 | 58357489 | 58357489 | Human | | name |
| 151802913 | CV1443905 | single nucleotide variant | NM_017763.6(RNF43):c.1720G>A (p.Gly574Arg) | Sessile serrated polyposis cancer syndrome [RCV003471018]|not provided [RCV001917875]|not specified [RCV004847859] | uncertain significance | 17 | 58358056 | 58358056 | Human | 1 | name |
| 151855441 | CV1448693 | single nucleotide variant | NM_017763.6(RNF43):c.1822G>A (p.Gly608Arg) | Sessile serrated polyposis cancer syndrome [RCV005016968]|not provided [RCV001979464]|not specified [RCV005271578] | uncertain significance | 17 | 58357954 | 58357954 | Human | 1 | name |
| 151891455 | CV1461212 | single nucleotide variant | NM_017763.6(RNF43):c.1960A>G (p.Arg654Gly) | not provided [RCV001943378] | uncertain significance | 17 | 58357816 | 58357816 | Human | | name |
| 151877225 | CV1461525 | single nucleotide variant | NM_017763.6(RNF43):c.1165C>T (p.Arg389Cys) | Sessile serrated polyposis cancer syndrome [RCV003471046]|not provided [RCV001925973] | uncertain significance | 17 | 58358611 | 58358611 | Human | 1 | name |
| 151888315 | CV1468354 | single nucleotide variant | NM_017763.6(RNF43):c.1704G>C (p.Lys568Asn) | not provided [RCV002001061] | uncertain significance | 17 | 58358072 | 58358072 | Human | | name |
| 151889725 | CV1516372 | single nucleotide variant | NM_017763.6(RNF43):c.1175G>T (p.Arg392Ile) | not provided [RCV002038658] | uncertain significance | 17 | 58358601 | 58358601 | Human | | name |
| 151888516 | CV1517146 | single nucleotide variant | NM_017763.6(RNF43):c.1264C>A (p.Gln422Lys) | not provided [RCV002038417] | uncertain significance | 17 | 58358512 | 58358512 | Human | | name |
| 153302897 | CV1689997 | single nucleotide variant | NM_017763.6(RNF43):c.1801T>C (p.Ser601Pro) | not specified [RCV002268897] | uncertain significance | 17 | 58357975 | 58357975 | Human | | name |
| 153302900 | CV1689998 | single nucleotide variant | NM_017763.6(RNF43):c.1645C>G (p.His549Asp) | not specified [RCV002268898] | uncertain significance | 17 | 58358131 | 58358131 | Human | | name |
| 155675717 | CV1771715 | single nucleotide variant | NM_017763.6(RNF43):c.1444T>C (p.Cys482Arg) | not provided [RCV002297764] | uncertain significance | 17 | 58358332 | 58358332 | Human | | name |
| 155688532 | CV1777817 | single nucleotide variant | NM_017763.6(RNF43):c.1778C>G (p.Ser593Cys) | not provided [RCV002299173] | uncertain significance | 17 | 58357998 | 58357998 | Human | | name |
| 155699303 | CV1778842 | single nucleotide variant | NM_017763.6(RNF43):c.1232C>T (p.Pro411Leu) | not provided [RCV002299854]|not specified [RCV004847909] | uncertain significance | 17 | 58358544 | 58358544 | Human | | name |
| 156325331 | CV1871161 | single nucleotide variant | NM_017763.6(RNF43):c.1976G>C (p.Gly659Ala) | Sessile serrated polyposis cancer syndrome [RCV005019626]|not provided [RCV003063362]|not specified [RCV005266503] | likely benign|uncertain significance | 17 | 58357800 | 58357800 | Human | 1 | name |
| 155979302 | CV1886319 | single nucleotide variant | NM_017763.6(RNF43):c.1591C>T (p.Arg531Cys) | Sessile serrated polyposis cancer syndrome [RCV003465953]|not provided [RCV003075572] | uncertain significance | 17 | 58358185 | 58358185 | Human | 1 | name |
| 156151218 | CV1895972 | single nucleotide variant | NM_017763.6(RNF43):c.1105C>T (p.Pro369Ser) | not provided [RCV003082558]|not specified [RCV005266529] | uncertain significance | 17 | 58358671 | 58358671 | Human | | name |
| 156284025 | CV1896989 | single nucleotide variant | NM_017763.6(RNF43):c.2194C>G (p.Arg732Gly) | not provided [RCV003087219]|not specified [RCV004857946] | uncertain significance | 17 | 58357582 | 58357582 | Human | | name |
| 156221114 | CV1899795 | single nucleotide variant | NM_017763.6(RNF43):c.1478G>A (p.Ser493Asn) | Sessile serrated polyposis cancer syndrome [RCV003465964]|not provided [RCV003085001]|not specified [RCV005266533] | uncertain significance | 17 | 58358298 | 58358298 | Human | 1 | name |
| 156167954 | CV1907849 | single nucleotide variant | NM_017763.6(RNF43):c.1670A>G (p.His557Arg) | Sessile serrated polyposis cancer syndrome [RCV004572785]|not provided [RCV003083135]|not specified [RCV004857947] | uncertain significance | 17 | 58358106 | 58358106 | Human | 1 | name |
| 156403322 | CV1908624 | single nucleotide variant | NM_017763.6(RNF43):c.1123T>C (p.Phe375Leu) | not provided [RCV002605874]|not specified [RCV005266548] | uncertain significance | 17 | 58358653 | 58358653 | Human | | name |
| 156358592 | CV1914205 | single nucleotide variant | NM_017763.6(RNF43):c.1879G>C (p.Val627Leu) | not provided [RCV002632514]|not specified [RCV004847951] | uncertain significance | 17 | 58357897 | 58357897 | Human | | name |
| 156271263 | CV1915325 | single nucleotide variant | NM_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 significance | 17 | 58357581 | 58357581 | Human | 1 | name |
| 156418900 | CV1918942 | single nucleotide variant | NM_017763.6(RNF43):c.2284T>C (p.Cys762Arg) | Sessile serrated polyposis cancer syndrome [RCV003465983]|not provided [RCV002612111] | uncertain significance | 17 | 58357492 | 58357492 | Human | 1 | name |
| 156409217 | CV1922552 | single nucleotide variant | NM_017763.6(RNF43):c.1448C>T (p.Thr483Met) | not provided [RCV002607488] | uncertain significance | 17 | 58358328 | 58358328 | Human | | name |
| 156446648 | CV1947995 | single nucleotide variant | NM_017763.6(RNF43):c.1589C>G (p.Pro530Arg) | not provided [RCV003118160]|not specified [RCV005273613] | uncertain significance | 17 | 58358187 | 58358187 | Human | | name |
| 156444741 | CV1948465 | single nucleotide variant | NM_017763.6(RNF43):c.2231C>G (p.Pro744Arg) | not provided [RCV003115668] | uncertain significance | 17 | 58357545 | 58357545 | Human | | name |
| 156073696 | CV1968688 | single nucleotide variant | NM_017763.6(RNF43):c.2218C>T (p.Pro740Ser) | not provided [RCV002591349] | uncertain significance | 17 | 58357558 | 58357558 | Human | | name |
| 156114200 | CV1993805 | single nucleotide variant | NM_017763.6(RNF43):c.1481G>C (p.Ser494Thr) | not provided [RCV002662606] | uncertain significance | 17 | 58358295 | 58358295 | Human | | name |
| 156266560 | CV1993956 | single nucleotide variant | NM_017763.6(RNF43):c.1148T>C (p.Met383Thr) | not provided [RCV002646392] | uncertain significance | 17 | 58358628 | 58358628 | Human | | name |
| 156205118 | CV2004417 | single nucleotide variant | NM_017763.6(RNF43):c.1823G>A (p.Gly608Glu) | not provided [RCV002666637] | uncertain significance | 17 | 58357953 | 58357953 | Human | | name |
| 155910241 | CV2017611 | single nucleotide variant | NM_017763.6(RNF43):c.1082C>T (p.Pro361Leu) | not provided [RCV002681661] | uncertain significance | 17 | 58358694 | 58358694 | Human | | name |
| 156040011 | CV2026341 | single nucleotide variant | NM_017763.6(RNF43):c.1415A>T (p.His472Leu) | not provided [RCV002736148] | uncertain significance | 17 | 58358361 | 58358361 | Human | | name |
| 156016829 | CV2044124 | single nucleotide variant | NM_017763.6(RNF43):c.1861G>A (p.Glu621Lys) | not provided [RCV002795389] | uncertain significance | 17 | 58357915 | 58357915 | Human | | name |
| 155950493 | CV2046681 | single nucleotide variant | NM_017763.6(RNF43):c.2213A>G (p.His738Arg) | not provided [RCV002775750] | uncertain significance | 17 | 58357563 | 58357563 | Human | | name |
| 156057332 | CV2050681 | single nucleotide variant | NM_017763.6(RNF43):c.1355C>G (p.Thr452Arg) | not provided [RCV002796973] | uncertain significance | 17 | 58358421 | 58358421 | Human | | name |
| 156021657 | CV2055550 | single nucleotide variant | NM_017763.6(RNF43):c.1606G>A (p.Val536Met) | not provided [RCV002820644] | uncertain significance | 17 | 58358170 | 58358170 | Human | | name |
| 156168929 | CV2075440 | single nucleotide variant | NM_017763.6(RNF43):c.2005C>T (p.Pro669Ser) | not provided [RCV002851472]|not specified [RCV004847928] | uncertain significance | 17 | 58357771 | 58357771 | Human | | name |
| 155987821 | CV2091424 | single nucleotide variant | NM_017763.6(RNF43):c.1235A>C (p.Tyr412Ser) | not provided [RCV002908011] | uncertain significance | 17 | 58358541 | 58358541 | Human | | name |
| 156208860 | CV2110412 | single nucleotide variant | NM_017763.6(RNF43):c.2338G>C (p.Glu780Gln) | Sessile serrated polyposis cancer syndrome [RCV003465869]|not provided [RCV002957660]|not specified [RCV004857931] | uncertain significance | 17 | 58354957 | 58354957 | Human | 1 | name |
| 156289747 | CV2111302 | single nucleotide variant | NM_017763.6(RNF43):c.1716A>T (p.Glu572Asp) | not provided [RCV002922103]|not specified [RCV004847932] | uncertain significance | 17 | 58358060 | 58358060 | Human | | name |
| 155938907 | CV2119669 | single nucleotide variant | NM_017763.6(RNF43):c.1103G>A (p.Arg368Gln) | Sessile serrated polyposis cancer syndrome [RCV003465874]|not provided [RCV002971145]|not specified [RCV003493973] | uncertain significance | 17 | 58358673 | 58358673 | Human | 1 | name |
| 155954972 | CV2123771 | single nucleotide variant | NM_017763.6(RNF43):c.1845C>G (p.Cys615Trp) | not provided [RCV002972073]|not specified [RCV004847934] | uncertain significance | 17 | 58357931 | 58357931 | Human | | name |
| 156031991 | CV2142107 | single nucleotide variant | NM_017763.6(RNF43):c.1189C>T (p.Arg397Trp) | Sessile serrated polyposis cancer syndrome [RCV003465882]|not provided [RCV002976645]|not specified [RCV004857934] | uncertain significance | 17 | 58358587 | 58358587 | Human | 1 | name |
| 156248394 | CV2145763 | single nucleotide variant | NM_017763.6(RNF43):c.1196C>T (p.Pro399Leu) | not provided [RCV003008356] | uncertain significance | 17 | 58358580 | 58358580 | Human | | name |
| 155958174 | CV2159333 | single nucleotide variant | NM_017763.6(RNF43):c.1990A>G (p.Thr664Ala) | not provided [RCV003015219] | uncertain significance | 17 | 58357786 | 58357786 | Human | | name |
| 155916083 | CV2197208 | single nucleotide variant | NM_014771.4(RNF40):c.2672T>A (p.Leu891Gln) | not specified [RCV004078996] | uncertain significance | 16 | 30771918 | 30771918 | Human | | name |
| 156083469 | CV2205519 | single nucleotide variant | NM_014771.4(RNF40):c.1811G>A (p.Arg604Gln) | not specified [RCV004082451] | uncertain significance | 16 | 30768362 | 30768362 | Human | | name |
| 156280611 | CV2206417 | single nucleotide variant | NM_014771.4(RNF40):c.2539A>G (p.Lys847Glu) | not specified [RCV004078739] | uncertain significance | 16 | 30769553 | 30769553 | Human | | name |
| 156333701 | CV2214647 | single nucleotide variant | NM_014771.4(RNF40):c.1163A>G (p.Tyr388Cys) | not specified [RCV004090475] | uncertain significance | 16 | 30766428 | 30766428 | Human | | name |
| 156120497 | CV2233702 | single nucleotide variant | NM_014771.4(RNF40):c.1969G>A (p.Ala657Thr) | not specified [RCV004100149] | uncertain significance | 16 | 30768520 | 30768520 | Human | | name |
| 156045591 | CV2234482 | single nucleotide variant | NM_014771.4(RNF40):c.2531G>T (p.Gly844Val) | not specified [RCV004100685] | uncertain significance | 16 | 30769545 | 30769545 | Human | | name |
| 156195597 | CV2251871 | single nucleotide variant | NM_014771.4(RNF40):c.2849G>A (p.Cys950Tyr) | not specified [RCV004119852] | uncertain significance | 16 | 30773957 | 30773957 | Human | | name |
| 156137072 | CV2253386 | single nucleotide variant | NM_014901.5(RNF44):c.1057C>T (p.Arg353Trp) | not specified [RCV004125119] | uncertain significance | 5 | 176529602 | 176529602 | Human | | name |
| 155990716 | CV2255559 | single nucleotide variant | NM_014771.4(RNF40):c.1184T>A (p.Phe395Tyr) | not specified [RCV004119980] | uncertain significance | 16 | 30766449 | 30766449 | Human | | name |
| 156168500 | CV2270566 | single nucleotide variant | NM_014771.4(RNF40):c.1101T>A (p.Asn367Lys) | not specified [RCV004137515] | uncertain significance | 16 | 30766270 | 30766270 | Human | | name |
| 156335281 | CV2272802 | single nucleotide variant | NM_014901.5(RNF44):c.1100G>A (p.Arg367His) | not specified [RCV004135713] | uncertain significance | 5 | 176529559 | 176529559 | Human | | name |
| 155944567 | CV2295198 | single nucleotide variant | NM_014771.4(RNF40):c.1253C>T (p.Ala418Val) | not specified [RCV004158289] | uncertain significance | 16 | 30766518 | 30766518 | Human | | name |
| 156001353 | CV2296404 | single nucleotide variant | NM_014901.5(RNF44):c.1120C>G (p.Gln374Glu) | not specified [RCV004148151] | uncertain significance | 5 | 176529539 | 176529539 | Human | | name |
| 156208405 | CV2308146 | single nucleotide variant | NM_014901.5(RNF44):c.1244G>A (p.Arg415Gln) | not specified [RCV004164384] | uncertain significance | 5 | 176529083 | 176529083 | Human | | name |
| 156181401 | CV2320818 | single nucleotide variant | NM_014771.4(RNF40):c.2683C>T (p.Arg895Trp) | not specified [RCV004172652] | uncertain significance | 16 | 30771929 | 30771929 | Human | | name |
| 156363470 | CV2329900 | single nucleotide variant | NM_014771.4(RNF40):c.1849C>T (p.Arg617Trp) | not specified [RCV004183355] | uncertain significance | 16 | 30768400 | 30768400 | Human | | name |
| 155922693 | CV2347363 | single nucleotide variant | NM_014771.4(RNF40):c.1631C>T (p.Ala544Val) | not specified [RCV004207205] | uncertain significance | 16 | 30768182 | 30768182 | Human | | name |
| 156343591 | CV2349180 | single nucleotide variant | NM_014771.4(RNF40):c.1819G>C (p.Glu607Gln) | not specified [RCV004199139] | uncertain significance | 16 | 30768370 | 30768370 | Human | | name |
| 156247747 | CV2357082 | single nucleotide variant | NM_014771.4(RNF40):c.2434G>A (p.Glu812Lys) | not specified [RCV004206882] | uncertain significance | 16 | 30769372 | 30769372 | Human | | name |
| 156387092 | CV2372631 | single nucleotide variant | NM_014771.4(RNF40):c.1046G>A (p.Arg349His) | not specified [RCV004221833] | uncertain significance | 16 | 30766215 | 30766215 | Human | | name |
| 156178402 | CV2374593 | single nucleotide variant | NM_014771.4(RNF40):c.2638G>A (p.Val880Met) | not specified [RCV004225219] | uncertain significance | 16 | 30771884 | 30771884 | Human | | name |
| 156346175 | CV2377938 | single nucleotide variant | NM_014771.4(RNF40):c.1366C>T (p.Arg456Cys) | not specified [RCV004230504] | uncertain significance | 16 | 30766813 | 30766813 | Human | | name |
| 155999326 | CV2378573 | single nucleotide variant | NM_014771.4(RNF40):c.1105C>T (p.Arg369Cys) | not specified [RCV004229009] | uncertain significance | 16 | 30766274 | 30766274 | Human | | name |
| 156007989 | CV2392676 | single nucleotide variant | NM_014771.4(RNF40):c.2122C>T (p.Arg708Trp) | not specified [RCV004247055] | uncertain significance | 16 | 30768862 | 30768862 | Human | | name |
| 156258364 | CV2395370 | single nucleotide variant | NM_014771.4(RNF40):c.2533G>A (p.Val845Met) | not specified [RCV004239461] | uncertain significance | 16 | 30769547 | 30769547 | Human | | name |
| 155964799 | CV2395880 | single nucleotide variant | NM_014901.5(RNF44):c.1270G>C (p.Ala424Pro) | not specified [RCV004237441] | uncertain significance | 5 | 176529057 | 176529057 | Human | | name |
| 329377220 | CV2435849 | single nucleotide variant | NM_014771.4(RNF40):c.2675C>G (p.Ala892Gly) | not specified [RCV004255085] | uncertain significance | 16 | 30771921 | 30771921 | Human | | name |
| 401722978 | CV2677157 | single nucleotide variant | NM_014771.4(RNF40):c.2117G>A (p.Arg706His) | not specified [RCV004295791] | uncertain significance | 16 | 30768857 | 30768857 | Human | | name |
| 401782650 | CV2697141 | single nucleotide variant | NM_014901.5(RNF44):c.1162G>A (p.Glu388Lys) | not specified [RCV004302135] | uncertain significance | 5 | 176529362 | 176529362 | Human | | name |
| 401759773 | CV2701713 | single nucleotide variant | NM_017763.6(RNF43):c.1523T>G (p.Leu508Arg) | not specified [RCV004314120] | uncertain significance | 17 | 58358253 | 58358253 | Human | | name |
| 401771474 | CV2722840 | single nucleotide variant | NM_017763.6(RNF43):c.2014G>A (p.Ala672Thr) | not specified [RCV004325256] | uncertain significance | 17 | 58357762 | 58357762 | Human | | name |
| 401768614 | CV2735365 | single nucleotide variant | NM_014771.4(RNF40):c.1778C>T (p.Thr593Ile) | not specified [RCV004334020] | uncertain significance | 16 | 30768329 | 30768329 | Human | | name |
| 401797934 | CV2741181 | single nucleotide variant | NM_017763.6(RNF43):c.1168T>A (p.Phe390Ile) | not specified [RCV003322344] | uncertain significance | 17 | 58358608 | 58358608 | Human | | name |
| 401895648 | CV2768083 | single nucleotide variant | NM_014771.4(RNF40):c.2927A>G (p.Tyr976Cys) | not specified [RCV004348315] | uncertain significance | 16 | 30774035 | 30774035 | Human | | name |
| 401874154 | CV2773659 | single nucleotide variant | NM_014771.4(RNF40):c.1544T>C (p.Ile515Thr) | not specified [RCV004356347] | uncertain significance | 16 | 30768008 | 30768008 | Human | | name |
| 401948178 | CV2833414 | single nucleotide variant | NM_017763.6(RNF43):c.2015C>T (p.Ala672Val) | Sessile serrated polyposis cancer syndrome [RCV003471860]|not provided [RCV003779100]|not specified [RCV005273693] | uncertain significance | 17 | 58357761 | 58357761 | Human | 1 | name |
| 401948181 | CV2833415 | single nucleotide variant | NM_017763.6(RNF43):c.2248G>A (p.Asp750Asn) | Sessile serrated polyposis cancer syndrome [RCV003471861]|not provided [RCV003779101] | uncertain significance | 17 | 58357528 | 58357528 | Human | 1 | name |
| 401948186 | CV2833417 | single nucleotide variant | NM_017763.6(RNF43):c.1912A>T (p.Ser638Cys) | Sessile serrated polyposis cancer syndrome [RCV003471863]|not provided [RCV003732596]|not specified [RCV004847969] | uncertain significance | 17 | 58357864 | 58357864 | Human | 1 | name |
| 401948191 | CV2833419 | single nucleotide variant | NM_017763.6(RNF43):c.1953C>A (p.His651Gln) | Sessile serrated polyposis cancer syndrome [RCV003471865]|not provided [RCV003720924]|not specified [RCV005273694] | uncertain significance | 17 | 58357823 | 58357823 | Human | 1 | name |
| 401948394 | CV2833421 | single nucleotide variant | NM_017763.6(RNF43):c.1133C>G (p.Ser378Cys) | Sessile serrated polyposis cancer syndrome [RCV003471867]|not provided [RCV004723325]|not specified [RCV004857981] | uncertain significance | 17 | 58358643 | 58358643 | Human | 1 | name |
| 401948389 | CV2833423 | single nucleotide variant | NM_017763.6(RNF43):c.1361G>A (p.Arg454His) | Sessile serrated polyposis cancer syndrome [RCV003471869]|not provided [RCV003720925] | uncertain significance | 17 | 58358415 | 58358415 | Human | 1 | name |
| 401948383 | CV2833425 | single nucleotide variant | NM_017763.6(RNF43):c.1639C>T (p.His547Tyr) | Sessile serrated polyposis cancer syndrome [RCV003471871] | uncertain significance | 17 | 58358137 | 58358137 | Human | 1 | name |
| 401948380 | CV2833426 | single nucleotide variant | NM_017763.6(RNF43):c.2108C>T (p.Pro703Leu) | Sessile serrated polyposis cancer syndrome [RCV003471872]|not provided [RCV004723326]|not specified [RCV005273695] | uncertain significance | 17 | 58357668 | 58357668 | Human | 1 | name |
| 401948371 | CV2833429 | single nucleotide variant | NM_017763.6(RNF43):c.1405G>C (p.Gly469Arg) | Sessile serrated polyposis cancer syndrome [RCV003471875] | uncertain significance | 17 | 58358371 | 58358371 | Human | 1 | name |
| 401948360 | CV2833433 | single nucleotide variant | NM_017763.6(RNF43):c.1156C>T (p.Arg386Trp) | Sessile serrated polyposis cancer syndrome [RCV003471879]|not provided [RCV005100218] | uncertain significance | 17 | 58358620 | 58358620 | Human | 1 | name |
| 401948357 | CV2833434 | single nucleotide variant | NM_017763.6(RNF43):c.1463A>T (p.Gln488Leu) | Sessile serrated polyposis cancer syndrome [RCV003471880]|not specified [RCV005273698] | uncertain significance | 17 | 58358313 | 58358313 | Human | 1 | name |
| 401948354 | CV2833435 | single nucleotide variant | NM_017763.6(RNF43):c.2093C>T (p.Pro698Leu) | Sessile serrated polyposis cancer syndrome [RCV003471881] | uncertain significance | 17 | 58357683 | 58357683 | Human | 1 | name |
| 401948343 | CV2833439 | single nucleotide variant | NM_017763.6(RNF43):c.1898G>A (p.Cys633Tyr) | Sessile serrated polyposis cancer syndrome [RCV003471885] | uncertain significance | 17 | 58357878 | 58357878 | Human | 1 | name |
| 401948340 | CV2833440 | single nucleotide variant | NM_017763.6(RNF43):c.1681C>T (p.Arg561Trp) | Sessile serrated polyposis cancer syndrome [RCV003471886]|not specified [RCV005273699] | uncertain significance | 17 | 58358095 | 58358095 | Human | 1 | name |
| 401948338 | CV2833441 | single nucleotide variant | NM_017763.6(RNF43):c.1175G>C (p.Arg392Thr) | Sessile serrated polyposis cancer syndrome [RCV003471887] | uncertain significance | 17 | 58358601 | 58358601 | Human | 1 | name |
| 401948291 | CV2833442 | single nucleotide variant | NM_017763.6(RNF43):c.1661G>A (p.Arg554Gln) | Sessile serrated polyposis cancer syndrome [RCV003471888]|not provided [RCV005100219]|not specified [RCV004847971] | uncertain significance | 17 | 58358115 | 58358115 | Human | 1 | name |
| 401948263 | CV2833443 | single nucleotide variant | NM_017763.6(RNF43):c.1504A>G (p.Ser502Gly) | Sessile serrated polyposis cancer syndrome [RCV003471889]|not provided [RCV004723327] | uncertain significance | 17 | 58358272 | 58358272 | Human | 1 | name |
| 401948199 | CV2833446 | single nucleotide variant | NM_017763.6(RNF43):c.1606G>T (p.Val536Leu) | Sessile serrated polyposis cancer syndrome [RCV003471892]|not provided [RCV004775405]|not specified [RCV004847972] | uncertain significance | 17 | 58358170 | 58358170 | Human | 1 | name |
| 401948207 | CV2833449 | single nucleotide variant | NM_017763.6(RNF43):c.1544G>A (p.Gly515Glu) | Sessile serrated polyposis cancer syndrome [RCV003471895]|not specified [RCV005273701] | uncertain significance | 17 | 58358232 | 58358232 | Human | 1 | name |
| 401948210 | CV2833450 | single nucleotide variant | NM_017763.6(RNF43):c.1249G>C (p.Gly417Arg) | Sessile serrated polyposis cancer syndrome [RCV003471896] | uncertain significance | 17 | 58358527 | 58358527 | Human | 1 | name |
| 401948217 | CV2833453 | single nucleotide variant | NM_017763.6(RNF43):c.1751G>A (p.Arg584Gln) | Sessile serrated polyposis cancer syndrome [RCV003471899]|not provided [RCV003720927]|not specified [RCV004857982] | uncertain significance | 17 | 58358025 | 58358025 | Human | 1 | name |
| 405006667 | CV2853007 | single nucleotide variant | NM_017763.6(RNF43):c.2129T>A (p.Leu710Gln) | not specified [RCV003494201] | uncertain significance | 17 | 58357647 | 58357647 | Human | | name |
| 405006683 | CV2853009 | single nucleotide variant | NM_017763.6(RNF43):c.1009C>T (p.Arg337Ter) | not provided [RCV003494203] | likely pathogenic | 17 | 58358767 | 58358767 | Human | | name |
| 405026922 | CV2889976 | single nucleotide variant | NM_017763.6(RNF43):c.1573A>C (p.Ser525Arg) | not provided [RCV003578048] | uncertain significance | 17 | 58358203 | 58358203 | Human | | name |
| 402465523 | CV2913725 | single nucleotide variant | NM_017763.6(RNF43):c.1972G>A (p.Gly658Arg) | not provided [RCV003569250] | uncertain significance | 17 | 58357804 | 58357804 | Human | | name |
| 405031092 | CV2922411 | single nucleotide variant | NM_017763.6(RNF43):c.1267T>C (p.Ser423Pro) | not provided [RCV003578366] | uncertain significance | 17 | 58358509 | 58358509 | Human | | name |
| 405189566 | CV2924553 | single nucleotide variant | NM_017763.6(RNF43):c.1157G>T (p.Arg386Leu) | not provided [RCV003564781] | uncertain significance | 17 | 58358619 | 58358619 | Human | | name |
| 405083858 | CV2946416 | single nucleotide variant | NM_017763.6(RNF43):c.1851G>C (p.Arg617Ser) | not provided [RCV003664812] | uncertain significance | 17 | 58357925 | 58357925 | Human | | name |
| 402506066 | CV2947713 | single nucleotide variant | NM_017763.6(RNF43):c.1334G>A (p.Gly445Glu) | not provided [RCV003662074] | uncertain significance | 17 | 58358442 | 58358442 | Human | | name |
| 405122570 | CV2954131 | single nucleotide variant | NM_017763.6(RNF43):c.1723G>C (p.Val575Leu) | not provided [RCV003667578] | uncertain significance | 17 | 58358053 | 58358053 | Human | | name |
| 405197454 | CV2972826 | single nucleotide variant | NM_017763.6(RNF43):c.2150C>G (p.Pro717Arg) | not provided [RCV003677820] | uncertain significance | 17 | 58357626 | 58357626 | Human | | name |
| 405224442 | CV2979290 | single nucleotide variant | NM_017763.6(RNF43):c.1751G>C (p.Arg584Pro) | not provided [RCV003681182] | uncertain significance | 17 | 58358025 | 58358025 | Human | | name |
| 405249001 | CV2987305 | single nucleotide variant | NM_017763.6(RNF43):c.1724T>C (p.Val575Ala) | not provided [RCV003686092] | uncertain significance | 17 | 58358052 | 58358052 | Human | | name |
| 404994352 | CV2996073 | single nucleotide variant | NM_017763.6(RNF43):c.1033C>G (p.His345Asp) | not provided [RCV003692594] | uncertain significance | 17 | 58358743 | 58358743 | Human | | name |
| 402481251 | CV3001122 | single nucleotide variant | NM_017763.6(RNF43):c.1576G>C (p.Val526Leu) | not provided [RCV003686632] | uncertain significance | 17 | 58358200 | 58358200 | Human | | name |
| 404980644 | CV3006133 | single nucleotide variant | NM_017763.6(RNF43):c.1418G>T (p.Gly473Val) | not provided [RCV003691156] | uncertain significance | 17 | 58358358 | 58358358 | Human | | name |
| 405235508 | CV3040914 | single nucleotide variant | NM_017763.6(RNF43):c.1231C>A (p.Pro411Thr) | not provided [RCV003712284] | uncertain significance | 17 | 58358545 | 58358545 | Human | | name |
| 405243058 | CV3043906 | single nucleotide variant | NM_017763.6(RNF43):c.1894A>G (p.Ile632Val) | not provided [RCV003719646] | uncertain significance | 17 | 58357882 | 58357882 | Human | | name |
| 405253168 | CV3044317 | single nucleotide variant | NM_017763.6(RNF43):c.1895T>C (p.Ile632Thr) | not provided [RCV003722445]|not specified [RCV005273845] | uncertain significance | 17 | 58357881 | 58357881 | Human | | name |
| 405254114 | CV3045295 | single nucleotide variant | NM_017763.6(RNF43):c.1207C>T (p.Gln403Ter) | Sessile serrated polyposis cancer syndrome [RCV003989859]|not provided [RCV003722857] | likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance | 17 | 58358569 | 58358569 | Human | 1 | name |
| 405254116 | CV3045296 | single nucleotide variant | NM_017763.6(RNF43):c.1309C>T (p.Arg437Trp) | not provided [RCV003722858] | uncertain significance | 17 | 58358467 | 58358467 | Human | | name |
| 405252104 | CV3046391 | single nucleotide variant | NM_017763.6(RNF43):c.1744A>G (p.Ile582Val) | not provided [RCV003722072]|not specified [RCV004847981] | likely benign|uncertain significance | 17 | 58358032 | 58358032 | Human | | name |
| 405123154 | CV3046558 | single nucleotide variant | NM_017763.6(RNF43):c.2126G>T (p.Arg709Met) | Sessile serrated polyposis cancer syndrome [RCV005014887]|not provided [RCV003724113]|not specified [RCV004857989] | uncertain significance | 17 | 58357650 | 58357650 | Human | 1 | name |
| 405246859 | CV3048093 | single nucleotide variant | NM_017763.6(RNF43):c.1331G>A (p.Ser444Asn) | not provided [RCV003720538] | uncertain significance | 17 | 58358445 | 58358445 | Human | | name |
| 405133966 | CV3051846 | single nucleotide variant | NM_017763.6(RNF43):c.1468G>A (p.Val490Ile) | not provided [RCV003725077]|not specified [RCV004847983] | likely benign|uncertain significance | 17 | 58358308 | 58358308 | Human | | name |
| 405129979 | CV3054590 | single nucleotide variant | NM_017763.6(RNF43):c.1655G>A (p.Arg552His) | not provided [RCV003724739] | uncertain significance | 17 | 58358121 | 58358121 | Human | | name |
| 405245146 | CV3054956 | single nucleotide variant | NM_017763.6(RNF43):c.1442A>G (p.Asn481Ser) | not provided [RCV003720206] | uncertain significance | 17 | 58358334 | 58358334 | Human | | name |
| 405254141 | CV3055040 | single nucleotide variant | NM_017763.6(RNF43):c.1768G>T (p.Glu590Ter) | not provided [RCV003722870] | uncertain significance | 17 | 58358008 | 58358008 | Human | | name |
| 405228449 | CV3065812 | single nucleotide variant | NM_017763.6(RNF43):c.2138A>G (p.Glu713Gly) | not provided [RCV003734470]|not specified [RCV004847989] | uncertain significance | 17 | 58357638 | 58357638 | Human | | name |
| 405192322 | CV3066085 | single nucleotide variant | NM_017763.6(RNF43):c.2068T>C (p.Tyr690His) | not provided [RCV003729841]|not specified [RCV004857998] | uncertain significance | 17 | 58357708 | 58357708 | Human | | name |
| 405190252 | CV3069790 | single nucleotide variant | NM_017763.6(RNF43):c.1540A>G (p.Lys514Glu) | not provided [RCV003729653]|not specified [RCV004857997] | likely benign|uncertain significance | 17 | 58358236 | 58358236 | Human | | name |
| 405094697 | CV3134741 | single nucleotide variant | NM_017763.6(RNF43):c.1858C>T (p.Pro620Ser) | not provided [RCV003835087] | uncertain significance | 17 | 58357918 | 58357918 | Human | | name |
| 405202000 | CV3143606 | single nucleotide variant | NM_017763.6(RNF43):c.1183C>A (p.His395Asn) | not provided [RCV003844592] | uncertain significance | 17 | 58358593 | 58358593 | Human | | name |
| 405193848 | CV3150165 | single nucleotide variant | NM_017763.6(RNF43):c.1168T>G (p.Phe390Val) | not provided [RCV003843700] | uncertain significance | 17 | 58358608 | 58358608 | Human | | name |
| 405219382 | CV3154174 | single nucleotide variant | NM_017763.6(RNF43):c.1135C>G (p.Gln379Glu) | not provided [RCV003846866] | uncertain significance | 17 | 58358641 | 58358641 | Human | | name |
| 405183585 | CV3159655 | single nucleotide variant | NM_017763.6(RNF43):c.1306C>A (p.Arg436Ser) | not provided [RCV003858906] | uncertain significance | 17 | 58358470 | 58358470 | Human | | name |
| 405249826 | CV3170130 | single nucleotide variant | NM_017763.6(RNF43):c.2264G>A (p.Arg755Lys) | not provided [RCV003869759]|not specified [RCV005273999] | uncertain significance | 17 | 58357512 | 58357512 | Human | | name |
| 405242466 | CV3173335 | single nucleotide variant | NM_017763.6(RNF43):c.1099G>A (p.Ala367Thr) | not provided [RCV003867620] | uncertain significance | 17 | 58358677 | 58358677 | Human | | name |
| 405249875 | CV3180572 | single nucleotide variant | NM_017763.6(RNF43):c.1852G>A (p.Ala618Thr) | not provided [RCV003869849]|not specified [RCV004848001] | uncertain significance | 17 | 58357924 | 58357924 | Human | | name |
| 402474399 | CV3182745 | single nucleotide variant | NM_017763.6(RNF43):c.1486A>G (p.Thr496Ala) | not provided [RCV003874988]|not specified [RCV004369645] | uncertain significance | 17 | 58358290 | 58358290 | Human | | name |
| 405708496 | CV3225470 | single nucleotide variant | NM_017763.6(RNF43):c.1530C>A (p.Tyr510Ter) | Sessile serrated polyposis cancer syndrome [RCV003990526] | likely pathogenic | 17 | 58358246 | 58358246 | Human | 1 | name |
| 405699076 | CV3313378 | single nucleotide variant | NM_014771.4(RNF40):c.1367G>T (p.Arg456Leu) | not specified [RCV004446754] | uncertain significance | 16 | 30766814 | 30766814 | Human | | name |
| 405699086 | CV3313380 | single nucleotide variant | NM_014771.4(RNF40):c.1600C>T (p.His534Tyr) | not specified [RCV004446756] | uncertain significance | 16 | 30768151 | 30768151 | Human | | name |
| 405699098 | CV3313382 | single nucleotide variant | NM_014771.4(RNF40):c.2410C>T (p.Arg804Trp) | not specified [RCV004446758] | uncertain significance | 16 | 30769348 | 30769348 | Human | | name |
| 405699104 | CV3313383 | single nucleotide variant | NM_014771.4(RNF40):c.2546T>C (p.Leu849Pro) | not specified [RCV004446759] | uncertain significance | 16 | 30769560 | 30769560 | Human | | name |
| 405699108 | CV3313384 | single nucleotide variant | NM_014771.4(RNF40):c.2648G>A (p.Arg883Gln) | not specified [RCV004446760] | uncertain significance | 16 | 30771894 | 30771894 | Human | | name |
| 405699117 | CV3313386 | single nucleotide variant | NM_014771.4(RNF40):c.2950C>A (p.Pro984Thr) | not specified [RCV004446762] | uncertain significance | 16 | 30774058 | 30774058 | Human | | name |
| 405699156 | CV3313393 | single nucleotide variant | NM_017763.6(RNF43):c.1141C>A (p.Pro381Thr) | not specified [RCV004446769] | uncertain significance | 17 | 58358635 | 58358635 | Human | | name |
| 405699606 | CV3313397 | single nucleotide variant | NM_014901.5(RNF44):c.1078A>G (p.Ile360Val) | not specified [RCV004446773] | uncertain significance | 5 | 176529581 | 176529581 | Human | | name |
| 405699596 | CV3313399 | single nucleotide variant | NM_014901.5(RNF44):c.1079T>C (p.Ile360Thr) | not specified [RCV004446775] | uncertain significance | 5 | 176529580 | 176529580 | Human | | name |
| 405871294 | CV3399340 | single nucleotide variant | NM_017763.6(RNF43):c.2056C>A (p.Pro686Thr) | Sessile serrated polyposis cancer syndrome [RCV004574771]|not specified [RCV004848007] | uncertain significance | 17 | 58357720 | 58357720 | Human | 1 | name |
| 405871296 | CV3399341 | single nucleotide variant | NM_017763.6(RNF43):c.2146G>A (p.Gly716Ser) | Sessile serrated polyposis cancer syndrome [RCV004574772] | uncertain significance | 17 | 58357630 | 58357630 | Human | 1 | name |
| 405871298 | CV3399342 | single nucleotide variant | NM_017763.6(RNF43):c.2039T>C (p.Ile680Thr) | Sessile serrated polyposis cancer syndrome [RCV004574773] | uncertain significance | 17 | 58357737 | 58357737 | Human | 1 | name |
| 405871299 | CV3399343 | single nucleotide variant | NM_017763.6(RNF43):c.1522C>A (p.Leu508Ile) | Sessile serrated polyposis cancer syndrome [RCV004574774]|not provided [RCV004767576] | uncertain significance | 17 | 58358254 | 58358254 | Human | 1 | name |
| 405871300 | CV3399344 | single nucleotide variant | NM_017763.6(RNF43):c.1976G>A (p.Gly659Asp) | Sessile serrated polyposis cancer syndrome [RCV004574775]|not provided [RCV004767577] | uncertain significance | 17 | 58357800 | 58357800 | Human | 1 | name |
| 405871303 | CV3399345 | single nucleotide variant | NM_017763.6(RNF43):c.2011G>A (p.Asp671Asn) | Sessile serrated polyposis cancer syndrome [RCV004574776] | uncertain significance | 17 | 58357765 | 58357765 | Human | 1 | name |
| 405871448 | CV3399347 | single nucleotide variant | NM_017763.6(RNF43):c.1595C>T (p.Ser532Phe) | Sessile serrated polyposis cancer syndrome [RCV004574778] | uncertain significance | 17 | 58358181 | 58358181 | Human | 1 | name |
| 405871309 | CV3399349 | single nucleotide variant | NM_017763.6(RNF43):c.1951C>A (p.His651Asn) | Sessile serrated polyposis cancer syndrome [RCV004574780] | uncertain significance | 17 | 58357825 | 58357825 | Human | 1 | name |
| 405871310 | CV3399350 | single nucleotide variant | NM_017763.6(RNF43):c.2006C>A (p.Pro669His) | Sessile serrated polyposis cancer syndrome [RCV004574781] | uncertain significance | 17 | 58357770 | 58357770 | Human | 1 | name |
| 405871318 | CV3399355 | single nucleotide variant | NM_017763.6(RNF43):c.2086G>A (p.Ala696Thr) | Sessile serrated polyposis cancer syndrome [RCV004574786]|not provided [RCV005100918]|not specified [RCV005274043] | uncertain significance | 17 | 58357690 | 58357690 | Human | 1 | name |
| 405871319 | CV3399356 | single nucleotide variant | NM_017763.6(RNF43):c.1076T>C (p.Leu359Ser) | Sessile serrated polyposis cancer syndrome [RCV004574787] | uncertain significance | 17 | 58358700 | 58358700 | Human | 1 | name |
| 405871320 | CV3399357 | single nucleotide variant | NM_017763.6(RNF43):c.1619G>A (p.Gly540Glu) | Sessile serrated polyposis cancer syndrome [RCV004574788]|not provided [RCV005100919]|not specified [RCV004858022] | uncertain significance | 17 | 58358157 | 58358157 | Human | 1 | name |
| 405871322 | CV3399358 | single nucleotide variant | NM_017763.6(RNF43):c.1505G>T (p.Ser502Ile) | Sessile serrated polyposis cancer syndrome [RCV004574789] | uncertain significance | 17 | 58358271 | 58358271 | Human | 1 | name |
| 407486823 | CV3479764 | single nucleotide variant | NM_014771.4(RNF40):c.1954C>T (p.Leu652Phe) | not specified [RCV004665525] | uncertain significance | 16 | 30768505 | 30768505 | Human | | name |
| 407486828 | CV3479765 | single nucleotide variant | NM_014771.4(RNF40):c.2191C>T (p.Arg731Trp) | not specified [RCV004665526] | uncertain significance | 16 | 30768931 | 30768931 | Human | | name |
| 407486834 | CV3479766 | single nucleotide variant | NM_014771.4(RNF40):c.1556G>A (p.Arg519Gln) | not specified [RCV004665527] | uncertain significance | 16 | 30768107 | 30768107 | Human | | name |
| 407486840 | CV3479767 | single nucleotide variant | NM_014771.4(RNF40):c.1804C>T (p.Arg602Trp) | not specified [RCV004665528] | uncertain significance | 16 | 30768355 | 30768355 | Human | | name |
| 407486845 | CV3479769 | single nucleotide variant | NM_014771.4(RNF40):c.2164G>A (p.Ala722Thr) | not specified [RCV004665529] | uncertain significance | 16 | 30768904 | 30768904 | Human | | name |
| 407486852 | CV3479770 | single nucleotide variant | NM_014771.4(RNF40):c.1129C>A (p.Leu377Ile) | not specified [RCV004665530] | uncertain significance | 16 | 30766394 | 30766394 | Human | | name |
| 407508802 | CV3479771 | single nucleotide variant | NM_014771.4(RNF40):c.2845C>A (p.Pro949Thr) | not specified [RCV004672160] | uncertain significance | 16 | 30773953 | 30773953 | Human | | name |
| 407486857 | CV3479774 | single nucleotide variant | NM_017763.6(RNF43):c.1230C>A (p.His410Gln) | not specified [RCV004665531] | uncertain significance | 17 | 58358546 | 58358546 | Human | | name |
| 408377220 | CV3501545 | single nucleotide variant | NM_017763.6(RNF43):c.1381G>A (p.Gly461Arg) | not provided [RCV004727603]|not specified [RCV005274051] | uncertain significance | 17 | 58358395 | 58358395 | Human | | name |
| 408380889 | CV3501720 | single nucleotide variant | NM_017763.6(RNF43):c.1292G>A (p.Cys431Tyr) | not provided [RCV004729248]|not specified [RCV004848010] | uncertain significance | 17 | 58358484 | 58358484 | Human | | name |
| 408380918 | CV3501730 | single nucleotide variant | NM_017763.6(RNF43):c.1244G>A (p.Gly415Asp) | not provided [RCV004729258]|not specified [RCV005274052] | uncertain significance | 17 | 58358532 | 58358532 | Human | | name |
| 408381709 | CV3502005 | single nucleotide variant | NM_017763.6(RNF43):c.2006C>T (p.Pro669Leu) | not provided [RCV004729533]|not specified [RCV005274053] | uncertain significance | 17 | 58357770 | 58357770 | Human | | name |
| 408381771 | CV3502025 | single nucleotide variant | NM_017763.6(RNF43):c.2027C>T (p.Pro676Leu) | not provided [RCV004729553] | uncertain significance | 17 | 58357749 | 58357749 | Human | | name |
| 408381869 | CV3502033 | single nucleotide variant | NM_017763.6(RNF43):c.1052A>G (p.Tyr351Cys) | not provided [RCV004729561] | uncertain significance | 17 | 58358724 | 58358724 | Human | | name |
| 408389848 | CV3519075 | single nucleotide variant | NM_017763.6(RNF43):c.2107C>A (p.Pro703Thr) | not provided [RCV004762384] | uncertain significance | 17 | 58357669 | 58357669 | Human | | name |
| 408388549 | CV3522714 | single nucleotide variant | NM_017763.6(RNF43):c.1408C>T (p.Pro470Ser) | not provided [RCV004769095]|not specified [RCV005269048] | uncertain significance | 17 | 58358368 | 58358368 | Human | | name |
| 408380739 | CV3523643 | single nucleotide variant | NM_017763.6(RNF43):c.1201G>A (p.Glu401Lys) | not provided [RCV004766041] | uncertain significance | 17 | 58358575 | 58358575 | Human | | name |
| 408386694 | CV3524182 | single nucleotide variant | NM_017763.6(RNF43):c.1282C>T (p.Pro428Ser) | not provided [RCV004768056]|not specified [RCV005269052] | uncertain significance | 17 | 58358494 | 58358494 | Human | | name |
| 408388529 | CV3529012 | single nucleotide variant | NM_017763.6(RNF43):c.1235A>G (p.Tyr412Cys) | not provided [RCV004773834] | uncertain significance | 17 | 58358541 | 58358541 | Human | | name |
| 596922689 | CV3530049 | single nucleotide variant | NM_017763.6(RNF43):c.2282A>G (p.His761Arg) | not provided [RCV004776648]|not specified [RCV005269066] | uncertain significance | 17 | 58357494 | 58357494 | Human | | name |
| 596944594 | CV3543441 | single nucleotide variant | NM_017763.6(RNF43):c.2224G>A (p.Glu742Lys) | not provided [RCV004801562] | uncertain significance | 17 | 58357552 | 58357552 | Human | | name |
| 596944605 | CV3543444 | single nucleotide variant | NM_017763.6(RNF43):c.1057C>G (p.Leu353Val) | not provided [RCV004801565]|not specified [RCV005269077] | uncertain significance | 17 | 58358719 | 58358719 | Human | | name |
| 596938994 | CV3549942 | single nucleotide variant | NM_017763.6(RNF43):c.1865C>T (p.Pro622Leu) | not provided [RCV004812983] | uncertain significance | 17 | 58357911 | 58357911 | Human | | name |
| 597687963 | CV3590480 | single nucleotide variant | NM_014771.4(RNF40):c.2817C>G (p.Ile939Met) | not specified [RCV004858551] | uncertain significance | 16 | 30772178 | 30772178 | Human | | name |
| 597755322 | CV3590483 | single nucleotide variant | NM_014771.4(RNF40):c.1879G>A (p.Val627Ile) | not specified [RCV004847587] | uncertain significance | 16 | 30768430 | 30768430 | Human | | name |
| 597687987 | CV3590487 | single nucleotide variant | NM_014771.4(RNF40):c.1694C>T (p.Ala565Val) | not specified [RCV004858554] | uncertain significance | 16 | 30768245 | 30768245 | Human | | name |
| 597755335 | CV3590490 | single nucleotide variant | NM_014771.4(RNF40):c.1056G>C (p.Glu352Asp) | not specified [RCV004847590] | uncertain significance | 16 | 30766225 | 30766225 | Human | | name |
| 597688018 | CV3590491 | single nucleotide variant | NM_014771.4(RNF40):c.1198A>G (p.Asn400Asp) | not specified [RCV004858557] | uncertain significance | 16 | 30766463 | 30766463 | Human | | name |
| 597755357 | CV3590499 | single nucleotide variant | NM_017763.6(RNF43):c.2314G>A (p.Glu772Lys) | not specified [RCV004847595] | uncertain significance | 17 | 58354981 | 58354981 | Human | | name |
| 597688062 | CV3590503 | single nucleotide variant | NM_017763.6(RNF43):c.1292G>T (p.Cys431Phe) | not specified [RCV004858562] | uncertain significance | 17 | 58358484 | 58358484 | Human | | name |
| 597688070 | CV3590505 | single nucleotide variant | NM_017763.6(RNF43):c.2276A>C (p.Tyr759Ser) | not specified [RCV004858563] | uncertain significance | 17 | 58357500 | 58357500 | Human | | name |
| 597688092 | CV3590508 | single nucleotide variant | NM_017763.6(RNF43):c.1844G>A (p.Cys615Tyr) | not specified [RCV004858565] | uncertain significance | 17 | 58357932 | 58357932 | Human | | name |
| 597688102 | CV3590510 | single nucleotide variant | NM_017763.6(RNF43):c.1390A>C (p.Ser464Arg) | not specified [RCV004858566] | uncertain significance | 17 | 58358386 | 58358386 | Human | | name |
| 597755383 | CV3590514 | single nucleotide variant | NM_017763.6(RNF43):c.1286C>G (p.Ala429Gly) | not specified [RCV004847601] | uncertain significance | 17 | 58358490 | 58358490 | Human | | name |
| 597755402 | CV3590526 | single nucleotide variant | NM_017763.6(RNF43):c.1424C>T (p.Ser475Phe) | not specified [RCV004847606] | uncertain significance | 17 | 58358352 | 58358352 | Human | | name |
| 597755407 | CV3590528 | single nucleotide variant | NM_017763.6(RNF43):c.2344G>C (p.Ala782Pro) | not specified [RCV004847607] | uncertain significance | 17 | 58354951 | 58354951 | Human | | name |
| 597688231 | CV3590531 | single nucleotide variant | NM_017763.6(RNF43):c.1201G>C (p.Glu401Gln) | not specified [RCV004858579] | uncertain significance | 17 | 58358575 | 58358575 | Human | | name |
| 597755416 | CV3590532 | single nucleotide variant | NM_017763.6(RNF43):c.1856T>G (p.Leu619Arg) | not specified [RCV004847609] | uncertain significance | 17 | 58357920 | 58357920 | Human | | name |
| 597688239 | CV3590533 | single nucleotide variant | NM_017763.6(RNF43):c.1372C>G (p.Leu458Val) | not specified [RCV004858580] | uncertain significance | 17 | 58358404 | 58358404 | Human | | name |
| 597688266 | CV3590536 | single nucleotide variant | NM_017763.6(RNF43):c.2126G>A (p.Arg709Lys) | not specified [RCV004858583] | uncertain significance | 17 | 58357650 | 58357650 | Human | | name |
| 597688276 | CV3590537 | single nucleotide variant | NM_017763.6(RNF43):c.1171C>A (p.Pro391Thr) | not specified [RCV004858584] | uncertain significance | 17 | 58358605 | 58358605 | Human | | name |
| 597688293 | CV3590541 | single nucleotide variant | NM_017763.6(RNF43):c.1855C>T (p.Leu619Phe) | not specified [RCV004858586] | uncertain significance | 17 | 58357921 | 58357921 | Human | | name |
| 597755428 | CV3590542 | single nucleotide variant | NM_017763.6(RNF43):c.1151G>A (p.Gly384Asp) | not specified [RCV004847612] | uncertain significance | 17 | 58358625 | 58358625 | Human | | name |
| 597755432 | CV3590543 | single nucleotide variant | NM_017763.6(RNF43):c.2290G>A (p.Val764Met) | not specified [RCV004847613] | uncertain significance | 17 | 58357486 | 58357486 | Human | | name |
| 597688309 | CV3590547 | single nucleotide variant | NM_017763.6(RNF43):c.1826G>A (p.Arg609Gln) | Sessile serrated polyposis cancer syndrome [RCV005392910]|not specified [RCV004858588] | likely benign|uncertain significance | 17 | 58357950 | 58357950 | Human | 1 | name |
| 597688325 | CV3590550 | single nucleotide variant | NM_017763.6(RNF43):c.2209C>G (p.Pro737Ala) | not specified [RCV004858590] | uncertain significance | 17 | 58357567 | 58357567 | Human | | name |
| 597755448 | CV3590551 | single nucleotide variant | NM_017763.6(RNF43):c.1666C>G (p.His556Asp) | not specified [RCV004847617] | uncertain significance | 17 | 58358110 | 58358110 | Human | | name |
| 597688336 | CV3590553 | single nucleotide variant | NM_017763.6(RNF43):c.2210C>A (p.Pro737Gln) | not specified [RCV004858591] | uncertain significance | 17 | 58357566 | 58357566 | Human | | name |
| 597688384 | CV3590563 | single nucleotide variant | NM_017763.6(RNF43):c.1638C>A (p.Ser546Arg) | not specified [RCV004858596] | uncertain significance | 17 | 58358138 | 58358138 | Human | | name |
| 597755483 | CV3590569 | single nucleotide variant | NM_014901.5(RNF44):c.1291G>A (p.Ala431Thr) | not specified [RCV004847626] | uncertain significance | 5 | 176529036 | 176529036 | Human | | name |
| 597770978 | CV3705360 | single nucleotide variant | NM_017763.6(RNF43):c.2243G>C (p.Ser748Thr) | Sessile serrated polyposis cancer syndrome [RCV005020538] | uncertain significance | 17 | 58357533 | 58357533 | Human | 1 | name |
| 597770983 | CV3705362 | single nucleotide variant | NM_017763.6(RNF43):c.1800A>C (p.Arg600Ser) | Sessile serrated polyposis cancer syndrome [RCV005020539] | uncertain significance | 17 | 58357976 | 58357976 | Human | 1 | name |
| 597633431 | CV3705363 | single nucleotide variant | NM_017763.6(RNF43):c.1273T>C (p.Ser425Pro) | Sessile serrated polyposis cancer syndrome [RCV005023825] | uncertain significance | 17 | 58358503 | 58358503 | Human | 1 | name |
| 597633437 | CV3705364 | single nucleotide variant | NM_017763.6(RNF43):c.1199G>T (p.Gly400Val) | Sessile serrated polyposis cancer syndrome [RCV005023826] | uncertain significance | 17 | 58358577 | 58358577 | Human | 1 | name |
| 597881686 | CV3744942 | single nucleotide variant | NM_017763.6(RNF43):c.2242A>G (p.Ser748Gly) | Sessile serrated polyposis cancer syndrome [RCV005392951]|not provided [RCV005069967] | uncertain significance | 17 | 58357534 | 58357534 | Human | 1 | name |
| 597969773 | CV3753451 | single nucleotide variant | NM_017763.6(RNF43):c.1814C>T (p.Ala605Val) | not provided [RCV005083936] | uncertain significance | 17 | 58357962 | 58357962 | Human | | name |
| 597943923 | CV3754875 | single nucleotide variant | NM_017763.6(RNF43):c.1837C>G (p.Pro613Ala) | not provided [RCV005078064] | uncertain significance | 17 | 58357939 | 58357939 | Human | | name |
| 597955416 | CV3757560 | single nucleotide variant | NM_017763.6(RNF43):c.1441A>G (p.Asn481Asp) | not provided [RCV005080226] | uncertain significance | 17 | 58358335 | 58358335 | Human | | name |
| 597833510 | CV3760452 | single nucleotide variant | NM_017763.6(RNF43):c.1162C>T (p.His388Tyr) | not provided [RCV005085195] | uncertain significance | 17 | 58358614 | 58358614 | Human | | name |
| 597888064 | CV3787677 | single nucleotide variant | NM_017763.6(RNF43):c.1531T>G (p.Cys511Gly) | not provided [RCV005125243] | uncertain significance | 17 | 58358245 | 58358245 | Human | | name |
| 597958190 | CV3796931 | single nucleotide variant | NM_017763.6(RNF43):c.1468G>C (p.Val490Leu) | not provided [RCV005137828] | uncertain significance | 17 | 58358308 | 58358308 | Human | | name |
| 597958603 | CV3797281 | single nucleotide variant | NM_017763.6(RNF43):c.1850G>A (p.Arg617Lys) | not provided [RCV005137968] | uncertain significance | 17 | 58357926 | 58357926 | Human | | name |
| 597839453 | CV3824994 | single nucleotide variant | NM_017763.6(RNF43):c.1565T>G (p.Met522Arg) | not provided [RCV005171858] | uncertain significance | 17 | 58358211 | 58358211 | Human | | name |
| 597911223 | CV3826104 | single nucleotide variant | NM_017763.6(RNF43):c.1442A>T (p.Asn481Ile) | not provided [RCV005182840] | uncertain significance | 17 | 58358334 | 58358334 | Human | | name |
| 597961539 | CV3840762 | single nucleotide variant | NM_017763.6(RNF43):c.1708G>A (p.Gly570Ser) | Sessile serrated polyposis cancer syndrome [RCV005392996]|not provided [RCV005193055]|not specified [RCV005269207] | uncertain significance | 17 | 58358068 | 58358068 | Human | 1 | name |
| 597963757 | CV3841424 | single nucleotide variant | NM_017763.6(RNF43):c.1555C>T (p.Arg519Ter) | not provided [RCV005193527] | uncertain significance | 17 | 58358221 | 58358221 | Human | | name |
| 597951580 | CV3843343 | single nucleotide variant | NM_017763.6(RNF43):c.1760C>T (p.Pro587Leu) | not provided [RCV005190393] | uncertain significance | 17 | 58358016 | 58358016 | Human | | name |
| 597953401 | CV3843975 | single nucleotide variant | NM_017763.6(RNF43):c.2045C>T (p.Pro682Leu) | not provided [RCV005190837] | uncertain significance | 17 | 58357731 | 58357731 | Human | | name |
| 597868759 | CV3858364 | single nucleotide variant | NM_017763.6(RNF43):c.1072C>A (p.Leu358Met) | not provided [RCV005197107] | uncertain significance | 17 | 58358704 | 58358704 | Human | | name |
| 598124106 | CV3881260 | single nucleotide variant | NM_017763.6(RNF43):c.2227G>A (p.Gly743Arg) | not specified [RCV005231684] | uncertain significance | 17 | 58357549 | 58357549 | Human | | name |
| 598124107 | CV3881261 | single nucleotide variant | NM_017763.6(RNF43):c.1111C>G (p.Arg371Gly) | not specified [RCV005231685] | uncertain significance | 17 | 58358665 | 58358665 | Human | | name |
| 598129155 | CV3888448 | single nucleotide variant | NM_017763.6(RNF43):c.2212C>T (p.His738Tyr) | not provided [RCV005244622] | uncertain significance | 17 | 58357564 | 58357564 | Human | | name |
| 598129198 | CV3888491 | single nucleotide variant | NM_017763.6(RNF43):c.1246T>A (p.Trp416Arg) | not provided [RCV005244665] | uncertain significance | 17 | 58358530 | 58358530 | Human | | name |
| 598202677 | CV3896522 | single nucleotide variant | NM_017763.6(RNF43):c.1961G>A (p.Arg654Lys) | Hyperplastic polyposis syndrome [RCV005356751]|not specified [RCV005269253] | uncertain significance | 17 | 58357815 | 58357815 | Human | | name |
| 598203761 | CV3896525 | single nucleotide variant | NM_017763.6(RNF43):c.2315A>C (p.Glu772Ala) | Hyperplastic polyposis syndrome [RCV005356754] | uncertain significance | 17 | 58354980 | 58354980 | Human | | name |
| 598205427 | CV3909679 | single nucleotide variant | NM_014771.4(RNF40):c.1888G>A (p.Ala630Thr) | not specified [RCV005269698] | uncertain significance | 16 | 30768439 | 30768439 | Human | | name |
| 598205442 | CV3909681 | single nucleotide variant | NM_014771.4(RNF40):c.1189C>G (p.Leu397Val) | not specified [RCV005269700] | uncertain significance | 16 | 30766454 | 30766454 | Human | | name |
| 598205447 | CV3909682 | single nucleotide variant | NM_014771.4(RNF40):c.2326C>A (p.Leu776Ile) | not specified [RCV005269701] | uncertain significance | 16 | 30769264 | 30769264 | Human | | name |
| 598205454 | CV3909683 | single nucleotide variant | NM_014771.4(RNF40):c.1996C>G (p.Gln666Glu) | not specified [RCV005269702] | uncertain significance | 16 | 30768635 | 30768635 | Human | | name |
| 598205468 | CV3909685 | single nucleotide variant | NM_014771.4(RNF40):c.1850G>A (p.Arg617Gln) | not specified [RCV005269704] | uncertain significance | 16 | 30768401 | 30768401 | Human | | name |
| 598205475 | CV3909686 | single nucleotide variant | NM_014771.4(RNF40):c.2661C>G (p.Ile887Met) | not specified [RCV005269705] | uncertain significance | 16 | 30771907 | 30771907 | Human | | name |
| 598205482 | CV3909687 | single nucleotide variant | NM_014771.4(RNF40):c.2046G>T (p.Glu682Asp) | not specified [RCV005269706] | uncertain significance | 16 | 30768685 | 30768685 | Human | | name |
| 598205532 | CV3909694 | single nucleotide variant | NM_017763.6(RNF43):c.1340G>A (p.Gly447Glu) | not specified [RCV005269713] | likely benign | 17 | 58358436 | 58358436 | Human | | name |
| 598205589 | CV3909702 | single nucleotide variant | NM_017763.6(RNF43):c.1588C>T (p.Pro530Ser) | not specified [RCV005269721] | uncertain significance | 17 | 58358188 | 58358188 | Human | | name |
| 598205605 | CV3909704 | single nucleotide variant | NM_017763.6(RNF43):c.1283C>T (p.Pro428Leu) | not specified [RCV005269723] | uncertain significance | 17 | 58358493 | 58358493 | Human | | name |
| 598205612 | CV3909705 | single nucleotide variant | NM_017763.6(RNF43):c.1317G>T (p.Arg439Ser) | not specified [RCV005269724] | uncertain significance | 17 | 58358459 | 58358459 | Human | | name |
| 598205626 | CV3909707 | single nucleotide variant | NM_017763.6(RNF43):c.1991C>A (p.Thr664Asn) | not specified [RCV005269726] | uncertain significance | 17 | 58357785 | 58357785 | Human | | name |
| 598205650 | CV3909710 | single nucleotide variant | NM_017763.6(RNF43):c.2117T>G (p.Leu706Arg) | not specified [RCV005269729] | uncertain significance | 17 | 58357659 | 58357659 | Human | | name |
| 598205693 | CV3909715 | single nucleotide variant | NM_017763.6(RNF43):c.1623A>C (p.Glu541Asp) | not specified [RCV005269734] | uncertain significance | 17 | 58358153 | 58358153 | Human | | name |
| 598205720 | CV3909719 | single nucleotide variant | NM_017763.6(RNF43):c.2218C>A (p.Pro740Thr) | not specified [RCV005269738] | uncertain significance | 17 | 58357558 | 58357558 | Human | | name |
| 598205726 | CV3909720 | single nucleotide variant | NM_017763.6(RNF43):c.1459C>G (p.Leu487Val) | not specified [RCV005269739] | uncertain significance | 17 | 58358317 | 58358317 | Human | | name |
| 598205733 | CV3909721 | single nucleotide variant | NM_017763.6(RNF43):c.1149G>A (p.Met383Ile) | not specified [RCV005269740] | uncertain significance | 17 | 58358627 | 58358627 | Human | | name |
| 598205740 | CV3909722 | single nucleotide variant | NM_017763.6(RNF43):c.1249G>A (p.Gly417Arg) | not specified [RCV005269741] | uncertain significance | 17 | 58358527 | 58358527 | Human | | name |
| 598205746 | CV3909723 | single nucleotide variant | NM_017763.6(RNF43):c.2260G>A (p.Gly754Ser) | not specified [RCV005269742] | uncertain significance | 17 | 58357516 | 58357516 | Human | | name |
| 598205753 | CV3909724 | single nucleotide variant | NM_017763.6(RNF43):c.1901C>T (p.Pro634Leu) | not specified [RCV005269743] | likely benign | 17 | 58357875 | 58357875 | Human | | name |
| 598205770 | CV3909727 | single nucleotide variant | NM_017763.6(RNF43):c.1750C>G (p.Arg584Gly) | not specified [RCV005269746] | uncertain significance | 17 | 58358026 | 58358026 | Human | | name |
| 598205777 | CV3909728 | single nucleotide variant | NM_017763.6(RNF43):c.1088G>T (p.Arg363Leu) | not specified [RCV005269747] | uncertain significance | 17 | 58358688 | 58358688 | Human | | name |
| 598205783 | CV3909729 | single nucleotide variant | NM_017763.6(RNF43):c.2321A>T (p.Glu774Val) | not specified [RCV005269748] | uncertain significance | 17 | 58354974 | 58354974 | Human | | name |
| 598205790 | CV3909730 | single nucleotide variant | NM_017763.6(RNF43):c.2150C>A (p.Pro717His) | not specified [RCV005269749] | uncertain significance | 17 | 58357626 | 58357626 | Human | | name |
| 598205810 | CV3909733 | single nucleotide variant | NM_017763.6(RNF43):c.1007G>T (p.Gly336Val) | not specified [RCV005269752] | uncertain significance | 17 | 58358769 | 58358769 | Human | | name |
| 598205818 | CV3909734 | single nucleotide variant | NM_017763.6(RNF43):c.2252C>T (p.Thr751Ile) | not specified [RCV005269753] | uncertain significance | 17 | 58357524 | 58357524 | Human | | name |
| 598205833 | CV3909736 | single nucleotide variant | NM_017763.6(RNF43):c.1625C>T (p.Thr542Ile) | not specified [RCV005269755] | uncertain significance | 17 | 58358151 | 58358151 | Human | | name |
| 598205874 | CV3909742 | single nucleotide variant | NM_017763.6(RNF43):c.1322C>T (p.Pro441Leu) | not specified [RCV005269761] | uncertain significance | 17 | 58358454 | 58358454 | Human | | name |
| 598205916 | CV3909749 | single nucleotide variant | NM_017763.6(RNF43):c.1430A>T (p.Asp477Val) | not specified [RCV005269768] | uncertain significance | 17 | 58358346 | 58358346 | Human | | name |
| 598205928 | CV3909751 | single nucleotide variant | NM_017763.6(RNF43):c.1571C>A (p.Pro524His) | not specified [RCV005269770] | uncertain significance | 17 | 58358205 | 58358205 | Human | | name |
| 598206021 | CV3909766 | single nucleotide variant | NM_017763.6(RNF43):c.1671C>A (p.His557Gln) | not specified [RCV005269785] | uncertain significance | 17 | 58358105 | 58358105 | Human | | name |
| 598206028 | CV3909767 | single nucleotide variant | NM_017763.6(RNF43):c.1549C>T (p.Pro517Ser) | not specified [RCV005269786] | uncertain significance | 17 | 58358227 | 58358227 | Human | | name |
| 598206034 | CV3909768 | single nucleotide variant | NM_017763.6(RNF43):c.1481G>T (p.Ser494Ile) | not specified [RCV005269787] | uncertain significance | 17 | 58358295 | 58358295 | Human | | name |
| 598206049 | CV3909770 | single nucleotide variant | NM_017763.6(RNF43):c.1663C>T (p.His555Tyr) | not specified [RCV005269789] | uncertain significance | 17 | 58358113 | 58358113 | Human | | name |
| 598206069 | CV3909773 | single nucleotide variant | NM_017763.6(RNF43):c.1034A>G (p.His345Arg) | not specified [RCV005269792] | uncertain significance | 17 | 58358742 | 58358742 | Human | | name |
| 598206081 | CV3909775 | single nucleotide variant | NM_017763.6(RNF43):c.2338G>A (p.Glu780Lys) | not specified [RCV005269794] | uncertain significance | 17 | 58354957 | 58354957 | Human | | name |
| 598206087 | CV3909776 | single nucleotide variant | NM_017763.6(RNF43):c.1602C>G (p.Asp534Glu) | not specified [RCV005269795] | uncertain significance | 17 | 58358174 | 58358174 | Human | | name |
| 598206094 | CV3909777 | single nucleotide variant | NM_017763.6(RNF43):c.1732T>C (p.Ser578Pro) | not specified [RCV005269796] | uncertain significance | 17 | 58358044 | 58358044 | Human | | name |
| 598206101 | CV3909778 | single nucleotide variant | NM_017763.6(RNF43):c.2165C>T (p.Ser722Leu) | not specified [RCV005269797] | uncertain significance | 17 | 58357611 | 58357611 | Human | | name |
| 598206133 | CV3909783 | single nucleotide variant | NM_017763.6(RNF43):c.1359A>T (p.Glu453Asp) | not specified [RCV005269802] | uncertain significance | 17 | 58358417 | 58358417 | Human | | name |
| 598206196 | CV3909792 | single nucleotide variant | NM_017763.6(RNF43):c.1922A>G (p.Asn641Ser) | not specified [RCV005269811] | likely benign | 17 | 58357854 | 58357854 | Human | | name |
| 598206214 | CV3909795 | single nucleotide variant | NM_017763.6(RNF43):c.2023C>T (p.His675Tyr) | not specified [RCV005269814] | uncertain significance | 17 | 58357753 | 58357753 | Human | | name |
| 598206270 | CV3909804 | single nucleotide variant | NM_017763.6(RNF43):c.2186T>C (p.Leu729Pro) | not specified [RCV005269823] | uncertain significance | 17 | 58357590 | 58357590 | Human | | name |
| 598206276 | CV3909805 | single nucleotide variant | NM_017763.6(RNF43):c.2060G>C (p.Ser687Thr) | not specified [RCV005269824] | uncertain significance | 17 | 58357716 | 58357716 | Human | | name |
| 598206283 | CV3909806 | single nucleotide variant | NM_017763.6(RNF43):c.1367G>A (p.Gly456Glu) | not specified [RCV005269825] | uncertain significance | 17 | 58358409 | 58358409 | Human | | name |
| 598206292 | CV3909808 | single nucleotide variant | NM_017763.6(RNF43):c.2303A>C (p.Gln768Pro) | not specified [RCV005269827] | uncertain significance | 17 | 58357473 | 58357473 | Human | | name |
| 598206312 | CV3909811 | single nucleotide variant | NM_017763.6(RNF43):c.2149C>T (p.Pro717Ser) | not specified [RCV005269830] | uncertain significance | 17 | 58357627 | 58357627 | Human | | name |
| 598206343 | CV3909816 | single nucleotide variant | NM_017763.6(RNF43):c.1927C>G (p.Gln643Glu) | not specified [RCV005269835] | uncertain significance | 17 | 58357849 | 58357849 | Human | | name |
| 598206380 | CV3909822 | single nucleotide variant | NM_017763.6(RNF43):c.2121C>G (p.Asp707Glu) | not specified [RCV005269841] | uncertain significance | 17 | 58357655 | 58357655 | Human | | name |
| 598206386 | CV3909823 | single nucleotide variant | NM_017763.6(RNF43):c.2120A>C (p.Asp707Ala) | not specified [RCV005269842] | uncertain significance | 17 | 58357656 | 58357656 | Human | | name |
| 598206427 | CV3909830 | single nucleotide variant | NM_014901.5(RNF44):c.1247C>T (p.Thr416Met) | not specified [RCV005269849] | uncertain significance | 5 | 176529080 | 176529080 | Human | | name |
| 598176827 | CV4008194 | single nucleotide variant | NM_017763.6(RNF43):c.2233T>C (p.Ser745Pro) | Sessile serrated polyposis cancer syndrome [RCV005393710] | uncertain significance | 17 | 58357543 | 58357543 | Human | 1 | name |
| 598176834 | CV4008195 | single nucleotide variant | NM_017763.6(RNF43):c.2306C>G (p.Pro769Arg) | Sessile serrated polyposis cancer syndrome [RCV005393711] | uncertain significance | 17 | 58357470 | 58357470 | Human | 1 | name |
| 26919428 | CV845669 | single nucleotide variant | NM_017763.6(RNF43):c.2279C>T (p.Pro760Leu) | Sessile serrated polyposis cancer syndrome [RCV003467741]|not provided [RCV001045522]|not specified [RCV004031400] | uncertain significance | 17 | 58357497 | 58357497 | Human | 1 | name |
| 26921748 | CV845670 | single nucleotide variant | NM_017763.6(RNF43):c.2102G>C (p.Cys701Ser) | not provided [RCV001050662]|not specified [RCV004031570] | uncertain significance | 17 | 58357674 | 58357674 | Human | | name |
| 26891398 | CV845671 | single nucleotide variant | NM_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 significance | 17 | 58358071 | 58358071 | Human | 1 | name |
| 26912989 | CV845672 | single nucleotide variant | NM_017763.6(RNF43):c.1675A>C (p.Lys559Gln) | Sessile serrated polyposis cancer syndrome [RCV003467699]|not provided [RCV001035037]|not specified [RCV002268414] | uncertain significance | 17 | 58358101 | 58358101 | Human | 1 | name |
| 26913007 | CV845673 | single nucleotide variant | NM_017763.6(RNF43):c.1564A>C (p.Met522Leu) | not provided [RCV001035057]|not specified [RCV005232068] | conflicting interpretations of pathogenicity|uncertain significance | 17 | 58358212 | 58358212 | Human | | name |
| 26884492 | CV845674 | single nucleotide variant | NM_017763.6(RNF43):c.1491C>A (p.Phe497Leu) | Sessile serrated polyposis cancer syndrome [RCV003467765]|not provided [RCV001051900]|not specified [RCV004847772] | uncertain significance | 17 | 58358285 | 58358285 | Human | 1 | name |
| 26913588 | CV845676 | single nucleotide variant | NM_017763.6(RNF43):c.1405G>A (p.Gly469Arg) | not provided [RCV001036126]|not specified [RCV005268854] | uncertain significance | 17 | 58358371 | 58358371 | Human | | name |
| 26890522 | CV845677 | single nucleotide variant | NM_017763.6(RNF43):c.1157G>A (p.Arg386Gln) | Sessile serrated polyposis cancer syndrome [RCV003467800]|not provided [RCV001059393]|not specified [RCV004031880] | uncertain significance | 17 | 58358619 | 58358619 | Human | 1 | name |
| 26905041 | CV845678 | single nucleotide variant | NM_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 significance | 17 | 58358665 | 58358665 | Human | 1 | name |
| 38460672 | CV938044 | single nucleotide variant | NM_017763.6(RNF43):c.1967G>T (p.Arg656Met) | not provided [RCV001211872] | uncertain significance | 17 | 58357809 | 58357809 | Human | | name |
| 38468706 | CV938045 | single nucleotide variant | NM_017763.6(RNF43):c.1210C>T (p.Arg404Cys) | Sessile serrated polyposis cancer syndrome [RCV003469322]|not provided [RCV001202252]|not specified [RCV003321806] | uncertain significance | 17 | 58358566 | 58358566 | Human | 1 | name |
| 38469988 | CV950050 | single nucleotide variant | NM_017763.6(RNF43):c.2294T>C (p.Leu765Pro) | Sessile serrated polyposis cancer syndrome [RCV003469411]|not provided [RCV001230863]|not specified [RCV005268988] | likely benign|uncertain significance | 17 | 58357482 | 58357482 | Human | 1 | name |
| 38483947 | CV950051 | single nucleotide variant | NM_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 significance | 17 | 58357807 | 58357807 | Human | 1 | name |
| 38489740 | CV950052 | single nucleotide variant | NM_017763.6(RNF43):c.1474G>A (p.Gly492Ser) | Sessile serrated polyposis cancer syndrome [RCV003469447]|not provided [RCV001238541]|not specified [RCV004847788] | uncertain significance | 17 | 58358302 | 58358302 | Human | 1 | name |
| 38477230 | CV950053 | single nucleotide variant | NM_017763.6(RNF43):c.1238C>T (p.Ala413Val) | not provided [RCV001233403]|not specified [RCV005268993] | uncertain significance | 17 | 58358538 | 58358538 | Human | | name |
| 38495006 | CV950054 | single nucleotide variant | NM_017763.6(RNF43):c.1211G>A (p.Arg404His) | Hyperplastic polyposis syndrome [RCV005359967]|not provided [RCV001225445]|not specified [RCV005268978] | likely benign|uncertain significance | 17 | 58358565 | 58358565 | Human | | name |
| 38481524 | CV950055 | single nucleotide variant | NM_017763.6(RNF43):c.1166G>A (p.Arg389His) | not provided [RCV001235146]|not specified [RCV005268999] | likely benign|uncertain significance | 17 | 58358610 | 58358610 | Human | | name |
| 38495732 | CV950056 | single nucleotide variant | NM_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 significance | 17 | 58358662 | 58358662 | Human | 1 | name |
| 38482641 | CV950057 | single nucleotide variant | NM_017763.6(RNF43):c.1087C>T (p.Arg363Trp) | Sessile serrated polyposis cancer syndrome [RCV004570594]|not provided [RCV001235604]|not specified [RCV005269001] | likely benign|uncertain significance | 17 | 58358689 | 58358689 | Human | 1 | name |
| 38459495 | CV958203 | single nucleotide variant | NM_017763.6(RNF43):c.1885G>C (p.Ala629Pro) | not provided [RCV001246565] | uncertain significance | 17 | 58357891 | 58357891 | Human | | name |