| 150432671 | CV1200745 | single nucleotide variant | NM_020639.3(RIPK4):c.*13G>T | not provided [RCV001581469] | likely benign | 21 | 41740825 | 41740825 | Human | | name |
| 11630475 | CV346502 | single nucleotide variant | NM_020639.3(RIPK4):c.*73G>A | Bartsocas-Papas syndrome 1 [RCV000351276] | uncertain significance | 21 | 41740765 | 41740765 | Human | 1 | name |
| 11627763 | CV350730 | single nucleotide variant | NM_020639.2(RIPK4):c.-44C>G | Popliteal pterygium syndrome [RCV000288676] | uncertain significance | 21 | 41767085 | 41767085 | Human | 1 | name |
| 11628025 | CV351774 | single nucleotide variant | NM_020639.3(RIPK4):c.*90T>C | Bartsocas-Papas syndrome 1 [RCV000294062]|not provided [RCV001613118] | benign | 21 | 41740748 | 41740748 | Human | 1 | name |
| 11663308 | CV351776 | single nucleotide variant | NM_020639.3(RIPK4):c.*60G>A | Bartsocas-Papas syndrome 1 [RCV000394458] | uncertain significance | 21 | 41740778 | 41740778 | Human | 1 | name |
| 11651164 | CV351777 | single nucleotide variant | NM_020639.3(RIPK4):c.*59C>T | Bartsocas-Papas syndrome 1 [RCV000297451] | uncertain significance | 21 | 41740779 | 41740779 | Human | 1 | name |
| 28884586 | CV886822 | single nucleotide variant | NM_020639.3(RIPK4):c.*72C>T | Bartsocas-Papas syndrome 1 [RCV001137272] | uncertain significance | 21 | 41740766 | 41740766 | Human | 1 | name |
| 11625589 | CV336830 | single nucleotide variant | NM_020639.3(RIPK4):c.*978C>G | Bartsocas-Papas syndrome 1 [RCV000400922] | uncertain significance | 21 | 41739860 | 41739860 | Human | 1 | name |
| 11615473 | CV336833 | single nucleotide variant | NM_020639.3(RIPK4):c.*281G>A | Bartsocas-Papas syndrome 1 [RCV000286407] | uncertain significance | 21 | 41740557 | 41740557 | Human | 1 | name |
| 11630672 | CV346496 | single nucleotide variant | NM_020639.3(RIPK4):c.*715A>G | Bartsocas-Papas syndrome 1 [RCV000356454] | likely benign|uncertain significance | 21 | 41740123 | 41740123 | Human | 1 | name |
| 11629370 | CV346497 | single nucleotide variant | NM_020639.3(RIPK4):c.*578C>A | Bartsocas-Papas syndrome 1 [RCV000321462] | likely benign | 21 | 41740260 | 41740260 | Human | 1 | name |
| 11629489 | CV346498 | single nucleotide variant | NM_020639.3(RIPK4):c.*275T>C | Bartsocas-Papas syndrome 1 [RCV000325157]|not provided [RCV001636952] | benign|likely benign | 21 | 41740563 | 41740563 | Human | 1 | name |
| 11658293 | CV346499 | single nucleotide variant | NM_020639.3(RIPK4):c.*201C>T | Bartsocas-Papas syndrome 1 [RCV000348012] | uncertain significance | 21 | 41740637 | 41740637 | Human | 1 | name |
| 11631170 | CV350694 | single nucleotide variant | NM_020639.3(RIPK4):c.*983G>A | Bartsocas-Papas syndrome 1 [RCV000368433]|not provided [RCV004717466] | benign | 21 | 41739855 | 41739855 | Human | 1 | name |
| 11626256 | CV350699 | single nucleotide variant | NM_020639.3(RIPK4):c.*741G>A | Bartsocas-Papas syndrome 1 [RCV000260818]|not provided [RCV004703846] | likely benign | 21 | 41740097 | 41740097 | Human | 1 | name |
| 11654478 | CV350700 | single nucleotide variant | NM_020639.3(RIPK4):c.*729C>T | Bartsocas-Papas syndrome 1 [RCV000318052] | uncertain significance | 21 | 41740109 | 41740109 | Human | 1 | name |
| 11626436 | CV350703 | single nucleotide variant | NM_020639.3(RIPK4):c.*707G>A | Bartsocas-Papas syndrome 1 [RCV000263935] | benign|uncertain significance | 21 | 41740131 | 41740131 | Human | 1 | name |
| 11631451 | CV350704 | single nucleotide variant | NM_020639.3(RIPK4):c.*560A>G | Bartsocas-Papas syndrome 1 [RCV000378577]|not provided [RCV004717467] | benign | 21 | 41740278 | 41740278 | Human | 1 | name |
| 11630567 | CV351765 | single nucleotide variant | NM_020639.3(RIPK4):c.*748A>G | Bartsocas-Papas syndrome 1 [RCV000353257] | likely benign | 21 | 41740090 | 41740090 | Human | 1 | name |
| 11631566 | CV351768 | single nucleotide variant | NM_020639.3(RIPK4):c.*219T>G | Bartsocas-Papas syndrome 1 [RCV000382058]|not provided [RCV001672602] | benign|likely benign | 21 | 41740619 | 41740619 | Human | 1 | name |
| 11627884 | CV351770 | single nucleotide variant | NM_020639.3(RIPK4):c.*215G>T | Bartsocas-Papas syndrome 1 [RCV000290681] | uncertain significance | 21 | 41740623 | 41740623 | Human | 1 | name |
| 11662439 | CV351773 | single nucleotide variant | NM_020639.3(RIPK4):c.*142G>A | Bartsocas-Papas syndrome 1 [RCV000386221] | uncertain significance | 21 | 41740696 | 41740696 | Human | 1 | name |
| 28884257 | CV886808 | single nucleotide variant | NM_020639.3(RIPK4):c.*961G>A | Bartsocas-Papas syndrome 1 [RCV001137166] | uncertain significance | 21 | 41739877 | 41739877 | Human | 1 | name |
| 28891456 | CV886809 | single nucleotide variant | NM_020639.3(RIPK4):c.*824C>T | Bartsocas-Papas syndrome 1 [RCV001139402] | uncertain significance | 21 | 41740014 | 41740014 | Human | 1 | name |
| 28891458 | CV886810 | single nucleotide variant | NM_020639.3(RIPK4):c.*823A>G | Bartsocas-Papas syndrome 1 [RCV001139403] | uncertain significance | 21 | 41740015 | 41740015 | Human | 1 | name |
| 28891461 | CV886811 | single nucleotide variant | NM_020639.3(RIPK4):c.*747T>A | Bartsocas-Papas syndrome 1 [RCV001139404]|not provided [RCV004717758] | benign | 21 | 41740091 | 41740091 | Human | 1 | name |
| 28898544 | CV886812 | single nucleotide variant | NM_020639.3(RIPK4):c.*701A>G | Bartsocas-Papas syndrome 1 [RCV001142024] | uncertain significance | 21 | 41740137 | 41740137 | Human | 1 | name |
| 28898546 | CV886813 | single nucleotide variant | NM_020639.3(RIPK4):c.*637G>A | Bartsocas-Papas syndrome 1 [RCV001142025] | uncertain significance | 21 | 41740201 | 41740201 | Human | 1 | name |
| 28898548 | CV886814 | single nucleotide variant | NM_020639.3(RIPK4):c.*550C>G | Bartsocas-Papas syndrome 1 [RCV001142026] | benign | 21 | 41740288 | 41740288 | Human | 1 | name |
| 28898550 | CV886815 | single nucleotide variant | NM_020639.3(RIPK4):c.*416C>T | Bartsocas-Papas syndrome 1 [RCV001142027] | uncertain significance | 21 | 41740422 | 41740422 | Human | 1 | name |
| 28898552 | CV886816 | single nucleotide variant | NM_020639.3(RIPK4):c.*298A>G | Bartsocas-Papas syndrome 1 [RCV001142028] | uncertain significance | 21 | 41740540 | 41740540 | Human | 1 | name |
| 28903000 | CV886817 | single nucleotide variant | NM_020639.3(RIPK4):c.*273A>C | Bartsocas-Papas syndrome 1 [RCV001143833] | uncertain significance | 21 | 41740565 | 41740565 | Human | 1 | name |
| 28903003 | CV886818 | single nucleotide variant | NM_020639.3(RIPK4):c.*215G>C | Bartsocas-Papas syndrome 1 [RCV001143834] | benign | 21 | 41740623 | 41740623 | Human | 1 | name |
| 28903006 | CV886819 | single nucleotide variant | NM_020639.3(RIPK4):c.*204G>A | Bartsocas-Papas syndrome 1 [RCV001143835] | uncertain significance | 21 | 41740634 | 41740634 | Human | 1 | name |
| 28903010 | CV886820 | single nucleotide variant | NM_020639.3(RIPK4):c.*173C>T | Bartsocas-Papas syndrome 1 [RCV001143836] | uncertain significance | 21 | 41740665 | 41740665 | Human | 1 | name |
| 28884581 | CV886821 | single nucleotide variant | NM_020639.3(RIPK4):c.*161G>A | Bartsocas-Papas syndrome 1 [RCV001137271] | uncertain significance | 21 | 41740677 | 41740677 | Human | 1 | name |
| 11663459 | CV336829 | single nucleotide variant | NM_020639.3(RIPK4):c.*1081C>T | Bartsocas-Papas syndrome 1 [RCV000396332] | uncertain significance | 21 | 41739757 | 41739757 | Human | 1 | name |
| 11630314 | CV346486 | single nucleotide variant | NM_020639.3(RIPK4):c.*1234G>A | Bartsocas-Papas syndrome 1 [RCV000346423] | uncertain significance | 21 | 41739604 | 41739604 | Human | 1 | name |
| 11653492 | CV346490 | duplication | NM_020639.3(RIPK4):c.*1039dup | Popliteal pterygium syndrome [RCV000311475] | uncertain significance | 21 | 41739798 | 41739799 | Human | 1 | name |
| 11630816 | CV350720 | single nucleotide variant | NM_020639.3(RIPK4):c.936+6G>A | Bartsocas-Papas syndrome 1 [RCV000360372] | uncertain significance | 21 | 41745753 | 41745753 | Human | 1 | name |
| 11632024 | CV351762 | single nucleotide variant | NM_020639.3(RIPK4):c.*1361T>A | Bartsocas-Papas syndrome 1 [RCV000396320]|not provided [RCV004694637] | uncertain significance | 21 | 41739477 | 41739477 | Human | 1 | name |
| 11627733 | CV351763 | single nucleotide variant | NM_020639.3(RIPK4):c.*1248C>T | Bartsocas-Papas syndrome 1 [RCV000288075] | uncertain significance | 21 | 41739590 | 41739590 | Human | 1 | name |
| 15195106 | CV731374 | single nucleotide variant | NM_020639.3(RIPK4):c.832+2T>C | Bartsocas-Papas syndrome 1 [RCV001142245]|not provided [RCV000889410] | benign|conflicting interpretations of pathogenicity|uncertain significance | 21 | 41746611 | 41746611 | Human | 1 | name |
| 28898284 | CV886798 | single nucleotide variant | NM_020639.3(RIPK4):c.*1447A>C | Bartsocas-Papas syndrome 1 [RCV001141913] | uncertain significance | 21 | 41739391 | 41739391 | Human | 1 | name |
| 28902746 | CV886799 | single nucleotide variant | NM_020639.3(RIPK4):c.*1420T>G | Bartsocas-Papas syndrome 1 [RCV001143715] | uncertain significance | 21 | 41739418 | 41739418 | Human | 1 | name |
| 28902749 | CV886800 | single nucleotide variant | NM_020639.3(RIPK4):c.*1376C>T | Bartsocas-Papas syndrome 1 [RCV001143716] | uncertain significance | 21 | 41739462 | 41739462 | Human | 1 | name |
| 28902751 | CV886801 | single nucleotide variant | NM_020639.3(RIPK4):c.*1206A>G | Bartsocas-Papas syndrome 1 [RCV001143717] | uncertain significance | 21 | 41739632 | 41739632 | Human | 1 | name |
| 28902754 | CV886802 | single nucleotide variant | NM_020639.3(RIPK4):c.*1203A>T | Bartsocas-Papas syndrome 1 [RCV001143718] | uncertain significance | 21 | 41739635 | 41739635 | Human | 1 | name |
| 28902757 | CV886803 | single nucleotide variant | NM_020639.3(RIPK4):c.*1192A>G | Bartsocas-Papas syndrome 1 [RCV001143719] | uncertain significance | 21 | 41739646 | 41739646 | Human | 1 | name |
| 28884240 | CV886804 | single nucleotide variant | NM_020639.3(RIPK4):c.*1172T>C | Bartsocas-Papas syndrome 1 [RCV001137162] | uncertain significance | 21 | 41739666 | 41739666 | Human | 1 | name |
| 28884246 | CV886805 | single nucleotide variant | NM_020639.3(RIPK4):c.*1151G>A | Bartsocas-Papas syndrome 1 [RCV001137163] | uncertain significance | 21 | 41739687 | 41739687 | Human | 1 | name |
| 28884250 | CV886806 | single nucleotide variant | NM_020639.3(RIPK4):c.*1117T>C | Bartsocas-Papas syndrome 1 [RCV001137164] | uncertain significance | 21 | 41739721 | 41739721 | Human | 1 | name |
| 28884253 | CV886807 | single nucleotide variant | NM_020639.3(RIPK4):c.*1025G>T | Bartsocas-Papas syndrome 1 [RCV001137165]|not provided [RCV004717757] | benign | 21 | 41739813 | 41739813 | Human | 1 | name |
| 150418501 | CV1195570 | single nucleotide variant | NM_020639.3(RIPK4):c.936+85C>T | not provided [RCV001569246] | likely benign | 21 | 41745674 | 41745674 | Human | | name |
| 150418090 | CV1199278 | single nucleotide variant | NM_020639.3(RIPK4):c.674-84C>T | not provided [RCV001576593] | likely benign | 21 | 41746855 | 41746855 | Human | | name |
| 150448727 | CV1260730 | single nucleotide variant | NM_020639.3(RIPK4):c.937-45T>G | Bartsocas-Papas syndrome 1 [RCV001796696]|not provided [RCV001680398] | benign | 21 | 41744185 | 41744185 | Human | 1 | name |
| 150462807 | CV1273063 | single nucleotide variant | NM_020639.3(RIPK4):c.937-19C>T | not provided [RCV001693820] | benign | 21 | 41744159 | 41744159 | Human | | name |
| 150443288 | CV1277837 | single nucleotide variant | NM_020639.3(RIPK4):c.936+95A>G | not provided [RCV001706980] | benign | 21 | 41745664 | 41745664 | Human | | name |
| 150531322 | CV1291137 | single nucleotide variant | NM_020639.3(RIPK4):c.183-94C>G | not provided [RCV001733015] | likely benign | 21 | 41756910 | 41756910 | Human | | name |
| 152078787 | CV1666651 | single nucleotide variant | NM_020639.3(RIPK4):c.623+34T>G | not provided [RCV002210996] | likely benign | 21 | 41751063 | 41751063 | Human | | name |
| 28891966 | CV887510 | single nucleotide variant | NM_020639.3(RIPK4):c.1195+8G>C | Bartsocas-Papas syndrome 1 [RCV001139625] | uncertain significance | 21 | 41743874 | 41743874 | Human | 1 | name |
| 28885402 | CV887511 | single nucleotide variant | NM_020639.3(RIPK4):c.474+14C>T | Bartsocas-Papas syndrome 1 [RCV001137504] | uncertain significance | 21 | 41756511 | 41756511 | Human | 1 | name |
| 150339716 | CV1167766 | single nucleotide variant | NM_020639.3(RIPK4):c.475-225C>T | not provided [RCV001534501] | benign | 21 | 41751470 | 41751470 | Human | | name |
| 150340346 | CV1168460 | single nucleotide variant | NM_020639.3(RIPK4):c.833-319C>T | not provided [RCV001535267] | benign | 21 | 41746181 | 41746181 | Human | | name |
| 150410238 | CV1178517 | single nucleotide variant | NM_020639.3(RIPK4):c.936+133C>T | not provided [RCV001546539] | likely benign | 21 | 41745626 | 41745626 | Human | | name |
| 150422212 | CV1181919 | duplication | NM_020639.3(RIPK4):c.832+178dup | not provided [RCV001552422] | likely benign | 21 | 41746434 | 41746435 | Human | | name |
| 150428103 | CV1188920 | single nucleotide variant | NM_020639.3(RIPK4):c.832+214C>T | not provided [RCV001561813] | likely benign | 21 | 41746399 | 41746399 | Human | | name |
| 150407908 | CV1192303 | single nucleotide variant | NM_020639.3(RIPK4):c.936+241A>G | not provided [RCV001565146] | likely benign | 21 | 41745518 | 41745518 | Human | | name |
| 150409554 | CV1192304 | single nucleotide variant | NM_020639.3(RIPK4):c.674-135T>G | not provided [RCV001565706] | likely benign | 21 | 41746906 | 41746906 | Human | | name |
| 150432479 | CV1200659 | single nucleotide variant | NM_020639.3(RIPK4):c.833-194A>G | not provided [RCV001581382] | likely benign | 21 | 41746056 | 41746056 | Human | | name |
| 150457886 | CV1202683 | single nucleotide variant | NM_020639.3(RIPK4):c.623+139C>T | not provided [RCV001586336] | likely benign | 21 | 41750958 | 41750958 | Human | | name |
| 150440832 | CV1204458 | single nucleotide variant | NM_020639.3(RIPK4):c.1196-99T>A | not provided [RCV001583563] | likely benign | 21 | 41742096 | 41742096 | Human | | name |
| 150448185 | CV1216230 | single nucleotide variant | NM_020639.3(RIPK4):c.182+169G>T | not provided [RCV001611528] | benign | 21 | 41766691 | 41766691 | Human | | name |
| 150482335 | CV1221036 | single nucleotide variant | NM_020639.3(RIPK4):c.182+160T>G | not provided [RCV001617121] | benign | 21 | 41766700 | 41766700 | Human | | name |
| 150516825 | CV1227264 | single nucleotide variant | NM_020639.3(RIPK4):c.936+276G>A | not provided [RCV001639364] | benign | 21 | 41745483 | 41745483 | Human | | name |
| 150450633 | CV1232702 | single nucleotide variant | NM_020639.3(RIPK4):c.832+147A>C | not provided [RCV001647777] | benign | 21 | 41746466 | 41746466 | Human | | name |
| 150501182 | CV1238333 | single nucleotide variant | NM_020639.3(RIPK4):c.183-148G>A | not provided [RCV001656763] | benign | 21 | 41756964 | 41756964 | Human | | name |
| 150487510 | CV1251535 | single nucleotide variant | NM_020639.3(RIPK4):c.1196-43A>G | Bartsocas-Papas syndrome 1 [RCV001796674]|not provided [RCV001674206] | benign | 21 | 41742040 | 41742040 | Human | 1 | name |
| 150486312 | CV1262558 | single nucleotide variant | NM_020639.3(RIPK4):c.937-250C>T | not provided [RCV001686955] | benign | 21 | 41744390 | 41744390 | Human | | name |
| 150439891 | CV1266839 | single nucleotide variant | NM_020639.3(RIPK4):c.673+269C>G | not provided [RCV001690275] | benign | 21 | 41748885 | 41748885 | Human | | name |
| 150456030 | CV1269021 | single nucleotide variant | NM_020639.3(RIPK4):c.674-124T>C | not provided [RCV001692845] | benign | 21 | 41746895 | 41746895 | Human | | name |
| 150420111 | CV1181918 | single nucleotide variant | NM_020639.3(RIPK4):c.1196-253C>T | not provided [RCV001551385] | likely benign | 21 | 41742250 | 41742250 | Human | | name |
| 150424849 | CV1185611 | single nucleotide variant | NM_020639.3(RIPK4):c.1196-117C>T | not provided [RCV001557209] | likely benign | 21 | 41742114 | 41742114 | Human | | name |
| 150489190 | CV1237608 | single nucleotide variant | NM_020639.3(RIPK4):c.1196-199C>T | not provided [RCV001654457] | benign | 21 | 41742196 | 41742196 | Human | | name |
| 150447487 | CV1261826 | single nucleotide variant | NM_020639.3(RIPK4):c.1196-177C>T | not provided [RCV001680210] | benign | 21 | 41742174 | 41742174 | Human | | name |
| 11629057 | CV346491 | duplication | NM_020639.3(RIPK4):c.*782_*783dup | Popliteal pterygium syndrome [RCV000314725] | benign | 21 | 41740054 | 41740055 | Human | 1 | name |
| 11631591 | CV351795 | single nucleotide variant | NM_020639.3(RIPK4):c.7G>A (p.Gly3Ser) | Bartsocas-Papas syndrome 1 [RCV000382992]|not provided [RCV000962844] | benign|likely benign | 21 | 41767035 | 41767035 | Human | 1 | name |
| 11631722 | CV350726 | single nucleotide variant | NM_020639.3(RIPK4):c.267C>T (p.Arg89=) | Bartsocas-Papas syndrome 1 [RCV000386881]|RIPK4-related disorder [RCV003932360]|not provided [RCV000890150] | likely benign|uncertain significance | 21 | 41756732 | 41756732 | Human | 2 | name , trait , alternate_id |
| 11627929 | CV351791 | single nucleotide variant | NM_020639.3(RIPK4):c.159G>A (p.Ser53=) | Bartsocas-Papas syndrome 1 [RCV000292213]|not provided [RCV001683357] | benign|likely benign | 21 | 41766883 | 41766883 | Human | 1 | name |
| 597718561 | CV3593644 | single nucleotide variant | NM_020639.3(RIPK4):c.14G>T (p.Gly5Val) | Inborn genetic diseases [RCV004960153] | uncertain significance | 21 | 41767028 | 41767028 | Human | 1 | name |
| 15190645 | CV742649 | single nucleotide variant | NM_020639.3(RIPK4):c.252G>A (p.Val84=) | Bartsocas-Papas syndrome 1 [RCV001139717]|not provided [RCV000910012] | likely benign|uncertain significance | 21 | 41756747 | 41756747 | Human | 1 | name |
| 15098865 | CV757835 | single nucleotide variant | NM_020639.3(RIPK4):c.159G>T (p.Ser53=) | not provided [RCV000914347] | likely benign | 21 | 41766883 | 41766883 | Human | | name |
| 28892290 | CV886841 | single nucleotide variant | NM_020639.3(RIPK4):c.117G>A (p.Val39=) | Bartsocas-Papas syndrome 1 [RCV001139718]|not provided [RCV001564790] | benign|likely benign | 21 | 41766925 | 41766925 | Human | 1 | name |
| 150332486 | CV1173408 | microsatellite | NM_020639.3(RIPK4):c.182+264_182+274del | not provided [RCV001539060] | benign | 21 | 41766586 | 41766596 | Human | | name |
| 150544829 | CV1315269 | deletion | NM_020639.3(RIPK4):c.121del (p.His41fs) | not provided [RCV001783683] | likely pathogenic | 21 | 41766921 | 41766921 | Human | | name |
| 401736096 | CV2688702 | single nucleotide variant | NM_020639.3(RIPK4):c.29C>T (p.Ala10Val) | Inborn genetic diseases [RCV003249945] | uncertain significance | 21 | 41767013 | 41767013 | Human | 1 | name |
| 405282970 | CV3218437 | single nucleotide variant | NM_020639.3(RIPK4):c.849C>T (p.Thr283=) | RIPK4-related disorder [RCV003957238] | likely benign | 21 | 41745846 | 41745846 | Human | | name , trait , alternate_id |
| 11626527 | CV346511 | single nucleotide variant | NM_020639.3(RIPK4):c.819G>A (p.Arg273=) | Bartsocas-Papas syndrome 1 [RCV000265797]|RIPK4-related disorder [RCV003910324]|not provided [RCV000959972] | benign|likely benign|uncertain significance | 21 | 41746626 | 41746626 | Human | 2 | name , trait , alternate_id |
| 11631218 | CV346520 | single nucleotide variant | NM_020639.3(RIPK4):c.327T>C (p.Ala109=) | Bartsocas-Papas syndrome 1 [RCV000371713]|not provided [RCV001712071] | benign|likely benign | 21 | 41756672 | 41756672 | Human | 1 | name |
| 11630714 | CV350721 | single nucleotide variant | NM_020639.3(RIPK4):c.630G>C (p.Ala210=) | Bartsocas-Papas syndrome 1 [RCV000356808]|not provided [RCV001691969] | benign|likely benign | 21 | 41749197 | 41749197 | Human | 1 | name |
| 11629599 | CV350728 | single nucleotide variant | NM_020639.3(RIPK4):c.35C>G (p.Ala12Gly) | Bartsocas-Papas syndrome 1 [RCV000328514]|not provided [RCV001672604] | benign|likely benign | 21 | 41767007 | 41767007 | Human | 1 | name |
| 408380268 | CV3512198 | single nucleotide variant | NM_020639.3(RIPK4):c.720C>T (p.His240=) | RIPK4-related disorder [RCV004754033] | likely benign | 21 | 41746725 | 41746725 | Human | | name , trait , alternate_id |
| 11626331 | CV351786 | single nucleotide variant | NM_020639.3(RIPK4):c.630G>A (p.Ala210=) | Bartsocas-Papas syndrome 1 [RCV000262093]|not provided [RCV001653651] | benign|likely benign | 21 | 41749197 | 41749197 | Human | 1 | name |
| 11629170 | CV351789 | single nucleotide variant | NM_020639.3(RIPK4):c.360A>C (p.Arg120=) | Bartsocas-Papas syndrome 1 [RCV000317325]|not provided [RCV001672603] | benign|likely benign | 21 | 41756639 | 41756639 | Human | 1 | name |
| 597632365 | CV3552828 | single nucleotide variant | NM_020639.3(RIPK4):c.89C>T (p.Ser30Leu) | not provided [RCV004823656] | uncertain significance | 21 | 41766953 | 41766953 | Human | | name |
| 597718502 | CV3593636 | single nucleotide variant | NM_020639.3(RIPK4):c.56C>T (p.Ala19Val) | Inborn genetic diseases [RCV004960145] | uncertain significance | 21 | 41766986 | 41766986 | Human | 1 | name |
| 13213902 | CV430432 | single nucleotide variant | NM_020639.3(RIPK4):c.906C>T (p.Asp302=) | not specified [RCV000500473] | likely benign | 21 | 41745789 | 41745789 | Human | | name |
| 15099438 | CV728919 | single nucleotide variant | NM_020639.3(RIPK4):c.600C>T (p.Phe200=) | not provided [RCV000891945] | likely benign | 21 | 41751120 | 41751120 | Human | | name |
| 15147601 | CV742647 | single nucleotide variant | NM_020639.3(RIPK4):c.330G>A (p.Ser110=) | not provided [RCV000900553] | likely benign | 21 | 41756669 | 41756669 | Human | | name |
| 15175372 | CV742648 | single nucleotide variant | NM_020639.3(RIPK4):c.303G>A (p.Thr101=) | Bartsocas-Papas syndrome 1 [RCV001137506]|Curly hair, ankyloblepharon, nail dysplasia syndrome [RCV002502698]|not provided [RCV000906196] | benign|likely benign | 21 | 41756696 | 41756696 | Human | 2 | name |
| 15106640 | CV757834 | single nucleotide variant | NM_020639.3(RIPK4):c.369C>T (p.His123=) | not provided [RCV000915792] | likely benign | 21 | 41756630 | 41756630 | Human | | name |
| 15178796 | CV773355 | single nucleotide variant | NM_020639.3(RIPK4):c.310C>T (p.Leu104=) | not provided [RCV000929483] | likely benign | 21 | 41756689 | 41756689 | Human | | name |
| 28899138 | CV886838 | single nucleotide variant | NM_020639.3(RIPK4):c.504C>T (p.Asn168=) | Bartsocas-Papas syndrome 1 [RCV001142248] | uncertain significance | 21 | 41751216 | 41751216 | Human | 1 | name |
| 28892295 | CV886842 | single nucleotide variant | NM_020639.3(RIPK4):c.59G>A (p.Gly20Asp) | Bartsocas-Papas syndrome 1 [RCV001139719] | uncertain significance | 21 | 41766983 | 41766983 | Human | 1 | name |
| 151353699 | CV1327251 | single nucleotide variant | NM_020639.3(RIPK4):c.2211C>T (p.Ser737=) | not specified [RCV001817195] | uncertain significance | 21 | 41740982 | 41740982 | Human | | name |
| 10045186 | CV188968 | single nucleotide variant | NM_020639.3(RIPK4):c.1884C>T (p.Ser628=) | Bartsocas-Papas syndrome 1 [RCV000384257]|RIPK4-related disorder [RCV003937536]|not provided [RCV000960318]|not specified [RCV000171349] | likely pathogenic|benign|likely benign|uncertain significance | 21 | 41741309 | 41741309 | Human | 2 | name , trait , alternate_id |
| 155983826 | CV2247694 | single nucleotide variant | NM_020639.3(RIPK4):c.127C>T (p.His43Tyr) | Inborn genetic diseases [RCV002777959] | uncertain significance | 21 | 41766915 | 41766915 | Human | 1 | name |
| 329369817 | CV2461235 | single nucleotide variant | NM_020639.3(RIPK4):c.188G>A (p.Arg63His) | Inborn genetic diseases [RCV003209161] | uncertain significance | 21 | 41756811 | 41756811 | Human | 1 | name |
| 11545477 | CV257465 | single nucleotide variant | NM_020639.3(RIPK4):c.2331G>A (p.Thr777=) | Bartsocas-Papas syndrome 1 [RCV000336076]|not provided [RCV001640568]|not specified [RCV000245188] | benign | 21 | 41740862 | 41740862 | Human | 1 | name |
| 11549004 | CV257467 | single nucleotide variant | NM_020639.3(RIPK4):c.1548C>T (p.Asp516=) | Bartsocas-Papas syndrome 1 [RCV000387649]|not provided [RCV001668573]|not specified [RCV000249847] | benign | 21 | 41741645 | 41741645 | Human | 1 | name |
| 11545757 | CV257468 | single nucleotide variant | NM_020639.3(RIPK4):c.1476G>A (p.Ala492=) | Bartsocas-Papas syndrome 1 [RCV000334409]|not provided [RCV001711727]|not specified [RCV000245571] | benign | 21 | 41741717 | 41741717 | Human | 1 | name |
| 11551821 | CV257469 | single nucleotide variant | NM_020639.3(RIPK4):c.1203C>T (p.Gly401=) | Bartsocas-Papas syndrome 1 [RCV000398058]|not provided [RCV001597022]|not specified [RCV000253546] | benign | 21 | 41741990 | 41741990 | Human | 1 | name |
| 11548052 | CV257470 | single nucleotide variant | NM_020639.3(RIPK4):c.1005G>T (p.Leu335=) | Bartsocas-Papas syndrome 1 [RCV000398046]|not provided [RCV001651240]|not specified [RCV000248581] | benign | 21 | 41744072 | 41744072 | Human | 1 | name |
| 401780374 | CV2726030 | single nucleotide variant | NM_020639.3(RIPK4):c.224T>A (p.Met75Lys) | Inborn genetic diseases [RCV003287994] | uncertain significance | 21 | 41756775 | 41756775 | Human | 1 | name |
| 401930573 | CV2824767 | single nucleotide variant | NM_020639.3(RIPK4):c.1593C>T (p.Asn531=) | not provided [RCV003440571] | likely benign | 21 | 41741600 | 41741600 | Human | | name |
| 405264263 | CV3189911 | single nucleotide variant | NM_020639.3(RIPK4):c.1842C>T (p.Arg614=) | RIPK4-related disorder [RCV003896958] | likely benign | 21 | 41741351 | 41741351 | Human | | name , trait , alternate_id |
| 405260155 | CV3190195 | single nucleotide variant | NM_020639.3(RIPK4):c.1011A>G (p.Ser337=) | RIPK4-related disorder [RCV003894597] | likely benign | 21 | 41744066 | 41744066 | Human | | name , trait , alternate_id |
| 405280790 | CV3195708 | single nucleotide variant | NM_020639.3(RIPK4):c.2307G>A (p.Gln769=) | RIPK4-related disorder [RCV003906941] | likely benign | 21 | 41740886 | 41740886 | Human | | name , trait , alternate_id |
| 405273176 | CV3197635 | single nucleotide variant | NM_020639.3(RIPK4):c.1833C>G (p.Ala611=) | RIPK4-related disorder [RCV003901603] | likely benign | 21 | 41741360 | 41741360 | Human | | name , trait , alternate_id |
| 405260414 | CV3204080 | single nucleotide variant | NM_020639.3(RIPK4):c.1569G>A (p.Leu523=) | RIPK4-related disorder [RCV003943951] | likely benign | 21 | 41741624 | 41741624 | Human | | name , trait , alternate_id |
| 405291587 | CV3205826 | single nucleotide variant | NM_020639.3(RIPK4):c.1641C>T (p.His547=) | RIPK4-related disorder [RCV003963953] | likely benign | 21 | 41741552 | 41741552 | Human | | name , trait , alternate_id |
| 405276564 | CV3206784 | single nucleotide variant | NM_020639.3(RIPK4):c.1833C>T (p.Ala611=) | RIPK4-related disorder [RCV003917213] | likely benign | 21 | 41741360 | 41741360 | Human | | name , trait , alternate_id |
| 405295388 | CV3209479 | single nucleotide variant | NM_020639.3(RIPK4):c.2016C>T (p.Thr672=) | RIPK4-related disorder [RCV003937273] | likely benign | 21 | 41741177 | 41741177 | Human | | name , trait , alternate_id |
| 405282426 | CV3212861 | single nucleotide variant | NM_020639.3(RIPK4):c.1242C>T (p.Ile414=) | RIPK4-related disorder [RCV003956994] | likely benign | 21 | 41741951 | 41741951 | Human | | name , trait , alternate_id |
| 405751841 | CV3319907 | single nucleotide variant | NM_020639.3(RIPK4):c.188G>T (p.Arg63Leu) | Inborn genetic diseases [RCV004453902] | uncertain significance | 21 | 41756811 | 41756811 | Human | 1 | name |
| 11619584 | CV336835 | single nucleotide variant | NM_020639.3(RIPK4):c.1941G>A (p.Thr647=) | Bartsocas-Papas syndrome 1 [RCV000327099]|not provided [RCV000890421] | benign|likely benign|uncertain significance | 21 | 41741252 | 41741252 | Human | 1 | name |
| 11613981 | CV336838 | single nucleotide variant | NM_020639.3(RIPK4):c.1617G>A (p.Thr539=) | Bartsocas-Papas syndrome 1 [RCV000273467]|RIPK4-related disorder [RCV003912430]|not provided [RCV000887294] | benign|likely benign|uncertain significance | 21 | 41741576 | 41741576 | Human | 2 | name , trait , alternate_id |
| 11623425 | CV336839 | single nucleotide variant | NM_020639.3(RIPK4):c.1425G>A (p.Leu475=) | Bartsocas-Papas syndrome 1 [RCV000372810]|not provided [RCV001572426] | benign|likely benign|uncertain significance | 21 | 41741768 | 41741768 | Human | 1 | name |
| 11632103 | CV346503 | single nucleotide variant | NM_020639.3(RIPK4):c.2325C>T (p.Ala775=) | Bartsocas-Papas syndrome 1 [RCV000398627]|RIPK4-related disorder [RCV003932359]|not provided [RCV000939730] | benign|likely benign|uncertain significance | 21 | 41740868 | 41740868 | Human | 2 | name , trait , alternate_id |
| 11626552 | CV346507 | single nucleotide variant | NM_020639.3(RIPK4):c.2139C>T (p.His713=) | Bartsocas-Papas syndrome 1 [RCV000266277] | uncertain significance | 21 | 41741054 | 41741054 | Human | 1 | name |
| 11628121 | CV346509 | single nucleotide variant | NM_020639.3(RIPK4):c.1530T>C (p.Phe510=) | Bartsocas-Papas syndrome 1 [RCV000295832] | uncertain significance | 21 | 41741663 | 41741663 | Human | 1 | name |
| 407508458 | CV3483315 | single nucleotide variant | NM_020639.3(RIPK4):c.236G>A (p.Arg79His) | Inborn genetic diseases [RCV004672050] | uncertain significance | 21 | 41756763 | 41756763 | Human | 1 | name |
| 11628401 | CV350707 | single nucleotide variant | NM_020639.3(RIPK4):c.2250G>A (p.Thr750=) | Bartsocas-Papas syndrome 1 [RCV000301399]|RIPK4-related disorder [RCV003897771] | benign|likely benign|uncertain significance | 21 | 41740943 | 41740943 | Human | 2 | name , trait , alternate_id |
| 11630757 | CV350708 | single nucleotide variant | NM_020639.3(RIPK4):c.2145C>T (p.His715=) | Bartsocas-Papas syndrome 1 [RCV000358629]|RIPK4-related disorder [RCV003950178]|not provided [RCV000907434] | benign|uncertain significance | 21 | 41741048 | 41741048 | Human | 2 | name , trait , alternate_id |
| 11627333 | CV350713 | single nucleotide variant | NM_020639.3(RIPK4):c.1311C>T (p.Ser437=) | Bartsocas-Papas syndrome 1 [RCV000280653]|not provided [RCV000972979] | benign|likely benign | 21 | 41741882 | 41741882 | Human | 1 | name |
| 11630282 | CV350716 | single nucleotide variant | NM_020639.3(RIPK4):c.1164G>A (p.Ser388=) | Bartsocas-Papas syndrome 1 [RCV000345497] | uncertain significance | 21 | 41743913 | 41743913 | Human | 1 | name |
| 11656294 | CV350725 | single nucleotide variant | NM_020639.3(RIPK4):c.271C>A (p.Pro91Thr) | Bartsocas-Papas syndrome 1 [RCV000332407] | uncertain significance | 21 | 41756728 | 41756728 | Human | 1 | name |
| 11626757 | CV351778 | single nucleotide variant | NM_020639.3(RIPK4):c.1980C>T (p.Gly660=) | Bartsocas-Papas syndrome 1 [RCV000269731]|not provided [RCV000911042] | benign|uncertain significance | 21 | 41741213 | 41741213 | Human | 1 | name |
| 11629667 | CV351779 | single nucleotide variant | NM_020639.3(RIPK4):c.1587G>A (p.Ser529=) | Bartsocas-Papas syndrome 1 [RCV000330759]|not provided [RCV000959641] | benign|likely benign | 21 | 41741606 | 41741606 | Human | 1 | name |
| 8568391 | CV39469 | single nucleotide variant | NM_020639.3(RIPK4):c.242T>A (p.Ile81Asn) | Bartsocas-Papas syndrome 1 [RCV000023469] | pathogenic | 21 | 41756757 | 41756757 | Human | 1 | name |
| 8568393 | CV39471 | duplication | NM_020639.3(RIPK4):c.777dup (p.Arg260fs) | Bartsocas-Papas syndrome 1 [RCV000023471] | pathogenic | 21 | 41746667 | 41746668 | Human | 1 | name |
| 13215221 | CV430433 | single nucleotide variant | NM_020639.3(RIPK4):c.265C>T (p.Arg89Cys) | not specified [RCV000502236] | uncertain significance | 21 | 41756734 | 41756734 | Human | | name |
| 15120681 | CV717216 | single nucleotide variant | NM_020639.3(RIPK4):c.2352C>T (p.Thr784=) | not provided [RCV000962761] | benign|likely benign | 21 | 41740841 | 41740841 | Human | | name |
| 15120688 | CV717217 | single nucleotide variant | NM_020639.3(RIPK4):c.2277C>T (p.Ala759=) | Bartsocas-Papas syndrome 1 [RCV001139522]|not provided [RCV000962762]|not specified [RCV001819043] | likely benign|uncertain significance | 21 | 41740916 | 41740916 | Human | 1 | name |
| 15175557 | CV717218 | single nucleotide variant | NM_020639.3(RIPK4):c.2214G>A (p.Ala738=) | RIPK4-related disorder [RCV003960865]|not provided [RCV000972978] | benign | 21 | 41740979 | 41740979 | Human | 1 | name , trait , alternate_id |
| 15125138 | CV717219 | single nucleotide variant | NM_020639.3(RIPK4):c.2070C>T (p.Val690=) | RIPK4-related disorder [RCV003926211]|not provided [RCV000963531] | benign|likely benign | 21 | 41741123 | 41741123 | Human | 1 | name , trait , alternate_id |
| 15141185 | CV717220 | single nucleotide variant | NM_020639.3(RIPK4):c.1803G>A (p.Thr601=) | not provided [RCV000966265] | likely benign | 21 | 41741390 | 41741390 | Human | | name |
| 15201673 | CV728918 | single nucleotide variant | NM_020639.3(RIPK4):c.1119G>T (p.Gly373=) | Bartsocas-Papas syndrome 1 [RCV001139627]|not provided [RCV000891258] | benign|likely benign | 21 | 41743958 | 41743958 | Human | 1 | name |
| 15173069 | CV742646 | single nucleotide variant | NM_020639.3(RIPK4):c.1458C>T (p.Val486=) | not provided [RCV000905793] | likely benign | 21 | 41741735 | 41741735 | Human | | name |
| 15166555 | CV757825 | single nucleotide variant | NM_020639.3(RIPK4):c.2187C>T (p.Asp729=) | not provided [RCV000926895] | likely benign | 21 | 41741006 | 41741006 | Human | | name |
| 15165903 | CV757826 | single nucleotide variant | NM_020639.3(RIPK4):c.2007C>T (p.Asp669=) | not provided [RCV000926740] | likely benign | 21 | 41741186 | 41741186 | Human | | name |
| 15134524 | CV757827 | single nucleotide variant | NM_020639.3(RIPK4):c.1926C>T (p.His642=) | not provided [RCV000920701] | likely benign | 21 | 41741267 | 41741267 | Human | | name |
| 15168544 | CV757828 | single nucleotide variant | NM_020639.3(RIPK4):c.1765C>T (p.Leu589=) | not provided [RCV000927314] | likely benign | 21 | 41741428 | 41741428 | Human | | name |
| 15203414 | CV757829 | single nucleotide variant | NM_020639.3(RIPK4):c.1491C>G (p.Val497=) | not provided [RCV000913965] | likely benign | 21 | 41741702 | 41741702 | Human | | name |
| 15158568 | CV757830 | single nucleotide variant | NM_020639.3(RIPK4):c.1344C>T (p.Ala448=) | Bartsocas-Papas syndrome 1 [RCV001137392]|not provided [RCV000925098] | likely benign|uncertain significance | 21 | 41741849 | 41741849 | Human | 1 | name |
| 15198837 | CV757831 | single nucleotide variant | NM_020639.3(RIPK4):c.1329C>T (p.His443=) | not provided [RCV000912370] | likely benign | 21 | 41741864 | 41741864 | Human | | name |
| 15147712 | CV757832 | single nucleotide variant | NM_020639.3(RIPK4):c.1137C>T (p.Ser379=) | Bartsocas-Papas syndrome 1 [RCV001139626]|RIPK4-related disorder [RCV003970503]|not provided [RCV000922961] | benign|likely benign|uncertain significance | 21 | 41743940 | 41743940 | Human | 2 | name , trait , alternate_id |
| 28893812 | CV886824 | single nucleotide variant | NM_020639.3(RIPK4):c.2001C>G (p.Thr667=) | Bartsocas-Papas syndrome 1 [RCV001140287] | uncertain significance | 21 | 41741192 | 41741192 | Human | 1 | name |
| 28893815 | CV886825 | single nucleotide variant | NM_020639.3(RIPK4):c.1995C>T (p.Ala665=) | Bartsocas-Papas syndrome 1 [RCV001140288] | uncertain significance | 21 | 41741198 | 41741198 | Human | 1 | name |
| 28898798 | CV886827 | single nucleotide variant | NM_020639.3(RIPK4):c.1779G>A (p.Pro593=) | Bartsocas-Papas syndrome 1 [RCV001142124] | uncertain significance | 21 | 41741414 | 41741414 | Human | 1 | name |
| 28885410 | CV886840 | single nucleotide variant | NM_020639.3(RIPK4):c.277G>A (p.Gly93Ser) | Bartsocas-Papas syndrome 1 [RCV001137507]|Inborn genetic diseases [RCV002558304] | uncertain significance | 21 | 41756722 | 41756722 | Human | 2 | name |
| 150412169 | CV1178518 | single nucleotide variant | NM_020639.3(RIPK4):c.721C>T (p.Arg241Cys) | not provided [RCV001547442] | uncertain significance | 21 | 41746724 | 41746724 | Human | | name |
| 150453224 | CV1275400 | single nucleotide variant | NM_020639.3(RIPK4):c.722G>A (p.Arg241His) | Bartsocas-Papas syndrome 1 [RCV001706914] | likely pathogenic | 21 | 41746723 | 41746723 | Human | 1 | name |
| 150534376 | CV1300562 | single nucleotide variant | NM_020639.3(RIPK4):c.739G>A (p.Val247Met) | Inborn genetic diseases [RCV002540414]|not provided [RCV001758690] | uncertain significance | 21 | 41746706 | 41746706 | Human | 1 | name |
| 156175180 | CV2205224 | single nucleotide variant | NM_020639.3(RIPK4):c.758G>A (p.Arg253His) | Inborn genetic diseases [RCV002664966] | uncertain significance | 21 | 41746687 | 41746687 | Human | 1 | name |
| 156242297 | CV2210642 | single nucleotide variant | NM_020639.3(RIPK4):c.979G>T (p.Asp327Tyr) | Inborn genetic diseases [RCV002701917] | uncertain significance | 21 | 41744098 | 41744098 | Human | 1 | name |
| 156066182 | CV2236892 | single nucleotide variant | NM_020639.3(RIPK4):c.915C>G (p.Ser305Arg) | Inborn genetic diseases [RCV002782902] | uncertain significance | 21 | 41745780 | 41745780 | Human | 1 | name |
| 156199673 | CV2237588 | single nucleotide variant | NM_020639.3(RIPK4):c.353G>A (p.Arg118Gln) | Inborn genetic diseases [RCV002743355] | uncertain significance | 21 | 41756646 | 41756646 | Human | 1 | name |
| 156023792 | CV2273803 | single nucleotide variant | NM_020639.3(RIPK4):c.589A>G (p.Ser197Gly) | Inborn genetic diseases [RCV002844839] | uncertain significance | 21 | 41751131 | 41751131 | Human | 1 | name |
| 156108937 | CV2313866 | single nucleotide variant | NM_020639.3(RIPK4):c.989A>G (p.Tyr330Cys) | Inborn genetic diseases [RCV002889095] | likely benign | 21 | 41744088 | 41744088 | Human | 1 | name |
| 156169465 | CV2317081 | single nucleotide variant | NM_020639.3(RIPK4):c.979G>A (p.Asp327Asn) | Inborn genetic diseases [RCV002929756] | uncertain significance | 21 | 41744098 | 41744098 | Human | 1 | name |
| 156342708 | CV2368604 | single nucleotide variant | NM_020639.3(RIPK4):c.579C>G (p.Ile193Met) | Inborn genetic diseases [RCV002674625] | uncertain significance | 21 | 41751141 | 41751141 | Human | 1 | name |
| 156007390 | CV2401307 | single nucleotide variant | NM_020639.3(RIPK4):c.760G>A (p.Ala254Thr) | Inborn genetic diseases [RCV002779921] | uncertain significance | 21 | 41746685 | 41746685 | Human | 1 | name |
| 329399424 | CV2447005 | single nucleotide variant | NM_020639.3(RIPK4):c.415C>G (p.Leu139Val) | Inborn genetic diseases [RCV003196671] | uncertain significance | 21 | 41756584 | 41756584 | Human | 1 | name |
| 329402321 | CV2454139 | single nucleotide variant | NM_020639.3(RIPK4):c.778C>T (p.Arg260Cys) | Inborn genetic diseases [RCV003199204] | uncertain significance | 21 | 41746667 | 41746667 | Human | 1 | name |
| 329954343 | CV2671313 | single nucleotide variant | NM_020639.3(RIPK4):c.467A>C (p.His156Pro) | Bartsocas-Papas syndrome 1 [RCV003234945] | uncertain significance | 21 | 41756532 | 41756532 | Human | 1 | name |
| 401741599 | CV2713752 | single nucleotide variant | NM_020639.3(RIPK4):c.512C>T (p.Ser171Phe) | Inborn genetic diseases [RCV003292637] | uncertain significance | 21 | 41751208 | 41751208 | Human | 1 | name |
| 401918715 | CV2800904 | single nucleotide variant | NM_020639.3(RIPK4):c.814G>C (p.Val272Leu) | RIPK4-related disorder [RCV003402104] | uncertain significance | 21 | 41746631 | 41746631 | Human | | name , trait , alternate_id |
| 401930574 | CV2824768 | single nucleotide variant | NM_020639.3(RIPK4):c.974C>T (p.Thr325Ile) | not provided [RCV003440572] | likely benign | 21 | 41744103 | 41744103 | Human | | name |
| 405751855 | CV3319909 | single nucleotide variant | NM_020639.3(RIPK4):c.379G>T (p.Val127Leu) | Inborn genetic diseases [RCV004453904] | uncertain significance | 21 | 41756620 | 41756620 | Human | 1 | name |
| 405751862 | CV3319910 | single nucleotide variant | NM_020639.3(RIPK4):c.387G>C (p.Met129Ile) | Inborn genetic diseases [RCV004453905] | uncertain significance | 21 | 41756612 | 41756612 | Human | 1 | name |
| 405751869 | CV3319911 | single nucleotide variant | NM_020639.3(RIPK4):c.778C>A (p.Arg260Ser) | Inborn genetic diseases [RCV004453906] | uncertain significance | 21 | 41746667 | 41746667 | Human | 1 | name |
| 405751875 | CV3319912 | single nucleotide variant | NM_020639.3(RIPK4):c.809C>A (p.Pro270Gln) | Inborn genetic diseases [RCV004453907] | uncertain significance | 21 | 41746636 | 41746636 | Human | 1 | name |
| 407475547 | CV3483319 | single nucleotide variant | NM_020639.3(RIPK4):c.992G>C (p.Ser331Thr) | Inborn genetic diseases [RCV004663263] | uncertain significance | 21 | 41744085 | 41744085 | Human | 1 | name |
| 407475552 | CV3483320 | single nucleotide variant | NM_020639.3(RIPK4):c.752G>A (p.Arg251Gln) | Inborn genetic diseases [RCV004663264] | uncertain significance | 21 | 41746693 | 41746693 | Human | 1 | name |
| 11628649 | CV350717 | single nucleotide variant | NM_020639.3(RIPK4):c.959G>A (p.Arg320Gln) | Bartsocas-Papas syndrome 1 [RCV000305757]|Inborn genetic diseases [RCV002523180]|not provided [RCV004694638] | uncertain significance | 21 | 41744118 | 41744118 | Human | 2 | name |
| 11627166 | CV350724 | single nucleotide variant | NM_020639.3(RIPK4):c.302C>T (p.Thr101Met) | Bartsocas-Papas syndrome 1 [RCV000277408] | uncertain significance | 21 | 41756697 | 41756697 | Human | 1 | name |
| 11628434 | CV351782 | single nucleotide variant | NM_020639.3(RIPK4):c.779G>A (p.Arg260His) | Bartsocas-Papas syndrome 1 [RCV000302006]|Inborn genetic diseases [RCV004021846] | uncertain significance | 21 | 41746666 | 41746666 | Human | 2 | name |
| 597718545 | CV3593642 | single nucleotide variant | NM_020639.3(RIPK4):c.920C>T (p.Pro307Leu) | Inborn genetic diseases [RCV004960151] | likely benign | 21 | 41745775 | 41745775 | Human | 1 | name |
| 597718552 | CV3593643 | single nucleotide variant | NM_020639.3(RIPK4):c.400T>A (p.Cys134Ser) | Inborn genetic diseases [RCV004960152] | uncertain significance | 21 | 41756599 | 41756599 | Human | 1 | name |
| 598228839 | CV3899198 | single nucleotide variant | NM_020639.3(RIPK4):c.791G>A (p.Arg264Gln) | Inborn genetic diseases [RCV005274190] | uncertain significance | 21 | 41746654 | 41746654 | Human | 1 | name |
| 8568392 | CV39470 | single nucleotide variant | NM_020639.3(RIPK4):c.362T>A (p.Ile121Asn) | Bartsocas-Papas syndrome 1 [RCV000023470] | pathogenic | 21 | 41756637 | 41756637 | Human | 1 | name |
| 13794661 | CV552226 | single nucleotide variant | NM_020639.3(RIPK4):c.488G>A (p.Gly163Asp) | Bartsocas-Papas syndrome 1 [RCV000680083]|Curly hair, ankyloblepharon, nail dysplasia syndrome [RCV000710014]|Curly hair, ankyloblepharon, nail dysplasia syndrome [RCV005392277] | pathogenic|uncertain significance | 21 | 41751232 | 41751232 | Human | 2 | name |
| 13806995 | CV576314 | single nucleotide variant | NM_020639.3(RIPK4):c.850G>A (p.Glu284Lys) | Curly hair, ankyloblepharon, nail dysplasia syndrome [RCV000710015] | pathogenic | 21 | 41745845 | 41745845 | Human | 1 | name |
| 28894120 | CV886835 | single nucleotide variant | NM_020639.3(RIPK4):c.899A>T (p.Asp300Val) | Bartsocas-Papas syndrome 1 [RCV001140387] | uncertain significance | 21 | 41745796 | 41745796 | Human | 1 | name |
| 28899130 | CV886836 | single nucleotide variant | NM_020639.3(RIPK4):c.812G>A (p.Arg271Gln) | Bartsocas-Papas syndrome 1 [RCV001142246]|Inborn genetic diseases [RCV004032719] | uncertain significance | 21 | 41746633 | 41746633 | Human | 2 | name |
| 28899134 | CV886837 | single nucleotide variant | NM_020639.3(RIPK4):c.755C>T (p.Pro252Leu) | Bartsocas-Papas syndrome 1 [RCV001142247] | uncertain significance | 21 | 41746690 | 41746690 | Human | 1 | name |
| 28885406 | CV886839 | single nucleotide variant | NM_020639.3(RIPK4):c.377C>T (p.Ala126Val) | Bartsocas-Papas syndrome 1 [RCV001137505]|Inborn genetic diseases [RCV002556929] | uncertain significance | 21 | 41756622 | 41756622 | Human | 2 | name |
| 126740369 | CV1022042 | single nucleotide variant | NM_020639.3(RIPK4):c.2071G>T (p.Glu691Ter) | Bartsocas-Papas syndrome [RCV001335982] | pathogenic | 21 | 41741122 | 41741122 | Human | | name |
| 126740364 | CV1022043 | single nucleotide variant | NM_020639.3(RIPK4):c.1511A>G (p.Gln504Arg) | Bartsocas-Papas syndrome 1 [RCV001335981] | uncertain significance | 21 | 41741682 | 41741682 | Human | 1 | name |
| 150409758 | CV1196242 | single nucleotide variant | NM_020639.3(RIPK4):c.1198C>G (p.Leu400Val) | Inborn genetic diseases [RCV002570787]|not provided [RCV001572781] | likely benign|uncertain significance | 21 | 41741995 | 41741995 | Human | 1 | name |
| 150545985 | CV1291481 | single nucleotide variant | NM_020639.3(RIPK4):c.1049C>T (p.Pro350Leu) | not provided [RCV001732784] | uncertain significance | 21 | 41744028 | 41744028 | Human | | name |
| 150546520 | CV1291482 | single nucleotide variant | NM_020639.3(RIPK4):c.2318G>T (p.Gly773Val) | not provided [RCV001733275] | uncertain significance | 21 | 41740875 | 41740875 | Human | | name |
| 150552379 | CV1301344 | single nucleotide variant | NM_020639.3(RIPK4):c.1417A>G (p.Thr473Ala) | not provided [RCV001767754]|not specified [RCV001821985] | uncertain significance | 21 | 41741776 | 41741776 | Human | | name |
| 150556377 | CV1303050 | single nucleotide variant | NM_020639.3(RIPK4):c.2332C>T (p.Leu778Phe) | not provided [RCV001774243] | uncertain significance | 21 | 41740861 | 41740861 | Human | | name |
| 156371529 | CV2200796 | single nucleotide variant | NM_020639.3(RIPK4):c.1540A>T (p.Asn514Tyr) | Inborn genetic diseases [RCV002652925] | uncertain significance | 21 | 41741653 | 41741653 | Human | 1 | name |
| 156107819 | CV2214276 | single nucleotide variant | NM_020639.3(RIPK4):c.1687G>A (p.Val563Met) | Inborn genetic diseases [RCV002707002] | uncertain significance | 21 | 41741506 | 41741506 | Human | 1 | name |
| 156155386 | CV2242503 | single nucleotide variant | NM_020639.3(RIPK4):c.2134G>A (p.Ala712Thr) | Inborn genetic diseases [RCV002787155] | uncertain significance | 21 | 41741059 | 41741059 | Human | 1 | name |
| 155996356 | CV2277395 | single nucleotide variant | NM_020639.3(RIPK4):c.2294G>A (p.Ser765Asn) | Inborn genetic diseases [RCV002864951] | uncertain significance | 21 | 41740899 | 41740899 | Human | 1 | name |
| 155966280 | CV2284274 | single nucleotide variant | NM_020639.3(RIPK4):c.1655T>C (p.Ile552Thr) | Inborn genetic diseases [RCV002841787] | uncertain significance | 21 | 41741538 | 41741538 | Human | 1 | name |
| 156179510 | CV2324251 | single nucleotide variant | NM_020639.3(RIPK4):c.1672C>T (p.Arg558Cys) | Inborn genetic diseases [RCV002917037] | uncertain significance | 21 | 41741521 | 41741521 | Human | 1 | name |
| 11350578 | CV237238 | single nucleotide variant | NM_020639.3(RIPK4):c.2101C>T (p.Pro701Ser) | Bartsocas-Papas syndrome 1 [RCV001140285]|RIPK4-related disorder [RCV003919909]|not provided [RCV000224013] | benign|likely benign | 21 | 41741092 | 41741092 | Human | 2 | name , trait , alternate_id |
| 156266344 | CV2389153 | single nucleotide variant | NM_020639.3(RIPK4):c.1729G>A (p.Ala577Thr) | Inborn genetic diseases [RCV002769763] | uncertain significance | 21 | 41741464 | 41741464 | Human | 1 | name |
| 329395631 | CV2462881 | single nucleotide variant | NM_020639.3(RIPK4):c.2242G>A (p.Ala748Thr) | Inborn genetic diseases [RCV003219223] | uncertain significance | 21 | 41740951 | 41740951 | Human | 1 | name |
| 11542948 | CV257466 | single nucleotide variant | NM_020639.3(RIPK4):c.1996A>G (p.Met666Val) | Bartsocas-Papas syndrome 1 [RCV000361869]|not provided [RCV001640567]|not specified [RCV000241808] | benign | 21 | 41741197 | 41741197 | Human | 1 | name |
| 401728524 | CV2672959 | single nucleotide variant | NM_020639.3(RIPK4):c.2114C>T (p.Thr705Met) | Inborn genetic diseases [RCV003247501] | uncertain significance | 21 | 41741079 | 41741079 | Human | 1 | name |
| 401758333 | CV2678619 | single nucleotide variant | NM_020639.3(RIPK4):c.1213G>A (p.Val405Ile) | Inborn genetic diseases [RCV003279681] | likely benign | 21 | 41741980 | 41741980 | Human | 1 | name |
| 401733734 | CV2682625 | single nucleotide variant | NM_020639.3(RIPK4):c.2194G>A (p.Asp732Asn) | Inborn genetic diseases [RCV003249278] | uncertain significance | 21 | 41740999 | 41740999 | Human | 1 | name |
| 401725815 | CV2687281 | single nucleotide variant | NM_020639.3(RIPK4):c.1612C>T (p.Arg538Trp) | Inborn genetic diseases [RCV003246017] | uncertain significance | 21 | 41741581 | 41741581 | Human | 1 | name |
| 401759628 | CV2712600 | single nucleotide variant | NM_020639.3(RIPK4):c.1846C>T (p.His616Tyr) | Inborn genetic diseases [RCV003299270] | uncertain significance | 21 | 41741347 | 41741347 | Human | 1 | name |
| 401828674 | CV2743009 | single nucleotide variant | NM_020639.3(RIPK4):c.1756G>A (p.Val586Ile) | Inborn genetic diseases [RCV004334086]|not provided [RCV003325717] | uncertain significance | 21 | 41741437 | 41741437 | Human | 1 | name |
| 401877073 | CV2764482 | single nucleotide variant | NM_020639.3(RIPK4):c.2312G>T (p.Gly771Val) | Inborn genetic diseases [RCV003363402] | uncertain significance | 21 | 41740881 | 41740881 | Human | 1 | name |
| 405288790 | CV3209901 | single nucleotide variant | NM_020639.3(RIPK4):c.2339G>A (p.Arg780Gln) | Inborn genetic diseases [RCV005274022]|RIPK4-related disorder [RCV003961397] | likely benign | 21 | 41740854 | 41740854 | Human | 2 | name , trait , alternate_id |
| 405751782 | CV3319898 | single nucleotide variant | NM_020639.3(RIPK4):c.1000G>A (p.Glu334Lys) | Inborn genetic diseases [RCV004453893] | uncertain significance | 21 | 41744077 | 41744077 | Human | 1 | name |
| 405751789 | CV3319899 | single nucleotide variant | NM_020639.3(RIPK4):c.1189A>G (p.Thr397Ala) | Inborn genetic diseases [RCV004453894] | uncertain significance | 21 | 41743888 | 41743888 | Human | 1 | name |
| 405751798 | CV3319900 | single nucleotide variant | NM_020639.3(RIPK4):c.1459G>A (p.Val487Met) | Inborn genetic diseases [RCV004453895] | uncertain significance | 21 | 41741734 | 41741734 | Human | 1 | name |
| 405751811 | CV3319902 | single nucleotide variant | NM_020639.3(RIPK4):c.1673G>A (p.Arg558His) | Inborn genetic diseases [RCV004453897] | uncertain significance | 21 | 41741520 | 41741520 | Human | 1 | name |
| 405751816 | CV3319903 | single nucleotide variant | NM_020639.3(RIPK4):c.1676G>A (p.Arg559Gln) | Inborn genetic diseases [RCV004453898] | uncertain significance | 21 | 41741517 | 41741517 | Human | 1 | name |
| 405751821 | CV3319904 | single nucleotide variant | NM_020639.3(RIPK4):c.1756G>T (p.Val586Phe) | Inborn genetic diseases [RCV004453899] | uncertain significance | 21 | 41741437 | 41741437 | Human | 1 | name |
| 405751828 | CV3319905 | single nucleotide variant | NM_020639.3(RIPK4):c.1777C>T (p.Pro593Ser) | Inborn genetic diseases [RCV004453900] | uncertain significance | 21 | 41741416 | 41741416 | Human | 1 | name |
| 405751835 | CV3319906 | single nucleotide variant | NM_020639.3(RIPK4):c.1841G>A (p.Arg614His) | Inborn genetic diseases [RCV004453901] | uncertain significance | 21 | 41741352 | 41741352 | Human | 1 | name |
| 405751849 | CV3319908 | single nucleotide variant | NM_020639.3(RIPK4):c.2126T>C (p.Leu709Pro) | Inborn genetic diseases [RCV004453903] | uncertain significance | 21 | 41741067 | 41741067 | Human | 1 | name |
| 11620561 | CV336840 | single nucleotide variant | NM_020639.3(RIPK4):c.1243G>A (p.Val415Met) | Bartsocas-Papas syndrome 1 [RCV000338076]|RIPK4-related disorder [RCV003922484]|not provided [RCV000906527] | likely benign|uncertain significance | 21 | 41741950 | 41741950 | Human | 2 | name , trait , alternate_id |
| 407475525 | CV3483314 | single nucleotide variant | NM_020639.3(RIPK4):c.1178G>A (p.Arg393Gln) | Inborn genetic diseases [RCV004663259] | uncertain significance | 21 | 41743899 | 41743899 | Human | 1 | name |
| 407475537 | CV3483317 | single nucleotide variant | NM_020639.3(RIPK4):c.1042G>A (p.Glu348Lys) | Inborn genetic diseases [RCV004663261] | uncertain significance | 21 | 41744035 | 41744035 | Human | 1 | name |
| 407475541 | CV3483318 | single nucleotide variant | NM_020639.3(RIPK4):c.1966C>T (p.Leu656Phe) | Inborn genetic diseases [RCV004663262] | uncertain significance | 21 | 41741227 | 41741227 | Human | 1 | name |
| 407475558 | CV3483321 | single nucleotide variant | NM_020639.3(RIPK4):c.2036G>A (p.Arg679His) | Inborn genetic diseases [RCV004663265] | uncertain significance | 21 | 41741157 | 41741157 | Human | 1 | name |
| 407475561 | CV3483322 | single nucleotide variant | NM_020639.3(RIPK4):c.1364A>G (p.Lys455Arg) | Inborn genetic diseases [RCV004663266] | uncertain significance | 21 | 41741829 | 41741829 | Human | 1 | name |
| 407475566 | CV3483323 | single nucleotide variant | NM_020639.3(RIPK4):c.1930G>A (p.Ala644Thr) | Inborn genetic diseases [RCV004663267] | uncertain significance | 21 | 41741263 | 41741263 | Human | 1 | name |
| 11628559 | CV350711 | single nucleotide variant | NM_020639.3(RIPK4):c.2008G>A (p.Gly670Ser) | Bartsocas-Papas syndrome 1 [RCV000304785]|not provided [RCV001770273]|not specified [RCV000503822] | uncertain significance | 21 | 41741185 | 41741185 | Human | 1 | name |
| 11628771 | CV351780 | single nucleotide variant | NM_020639.3(RIPK4):c.1193G>T (p.Ser398Ile) | Bartsocas-Papas syndrome 1 [RCV000309350] | uncertain significance | 21 | 41743884 | 41743884 | Human | 1 | name |
| 597718509 | CV3593637 | single nucleotide variant | NM_020639.3(RIPK4):c.1051G>A (p.Glu351Lys) | Inborn genetic diseases [RCV004960146] | uncertain significance | 21 | 41744026 | 41744026 | Human | 1 | name |
| 597718515 | CV3593638 | single nucleotide variant | NM_020639.3(RIPK4):c.1406G>A (p.Arg469His) | Inborn genetic diseases [RCV004960147] | uncertain significance | 21 | 41741787 | 41741787 | Human | 1 | name |
| 597718522 | CV3593639 | single nucleotide variant | NM_020639.3(RIPK4):c.1808A>G (p.Asp603Gly) | Inborn genetic diseases [RCV004960148] | uncertain significance | 21 | 41741385 | 41741385 | Human | 1 | name |
| 597718527 | CV3593640 | single nucleotide variant | NM_020639.3(RIPK4):c.1064G>A (p.Arg355His) | Inborn genetic diseases [RCV004960149] | uncertain significance | 21 | 41744013 | 41744013 | Human | 1 | name |
| 597718536 | CV3593641 | single nucleotide variant | NM_020639.3(RIPK4):c.2206C>T (p.Leu736Phe) | Inborn genetic diseases [RCV004960150] | uncertain significance | 21 | 41740987 | 41740987 | Human | 1 | name |
| 597718571 | CV3593645 | single nucleotide variant | NM_020639.3(RIPK4):c.1888G>A (p.Val630Ile) | Inborn genetic diseases [RCV004960154] | uncertain significance | 21 | 41741305 | 41741305 | Human | 1 | name |
| 597718579 | CV3593647 | single nucleotide variant | NM_020639.3(RIPK4):c.1064G>C (p.Arg355Pro) | Inborn genetic diseases [RCV004960155] | uncertain significance | 21 | 41744013 | 41744013 | Human | 1 | name |
| 597718587 | CV3593648 | single nucleotide variant | NM_020639.3(RIPK4):c.1186T>C (p.Ser396Pro) | Inborn genetic diseases [RCV004960156] | uncertain significance | 21 | 41743891 | 41743891 | Human | 1 | name |
| 597718592 | CV3593649 | single nucleotide variant | NM_020639.3(RIPK4):c.1208C>G (p.Thr403Arg) | Inborn genetic diseases [RCV004960157] | uncertain significance | 21 | 41741985 | 41741985 | Human | 1 | name |
| 597718598 | CV3593650 | single nucleotide variant | NM_020639.3(RIPK4):c.1259G>A (p.Ser420Asn) | Inborn genetic diseases [RCV004960158] | uncertain significance | 21 | 41741934 | 41741934 | Human | 1 | name |
| 597718604 | CV3593651 | single nucleotide variant | NM_020639.3(RIPK4):c.1985G>C (p.Gly662Ala) | Inborn genetic diseases [RCV004960159] | uncertain significance | 21 | 41741208 | 41741208 | Human | 1 | name |
| 597718610 | CV3593652 | single nucleotide variant | NM_020639.3(RIPK4):c.1679G>A (p.Gly560Asp) | Inborn genetic diseases [RCV004960160] | uncertain significance | 21 | 41741514 | 41741514 | Human | 1 | name |
| 598126573 | CV3882022 | single nucleotide variant | NM_020639.3(RIPK4):c.1136C>T (p.Ser379Phe) | not provided [RCV005233574] | uncertain significance | 21 | 41743941 | 41743941 | Human | | name |
| 598228820 | CV3899194 | single nucleotide variant | NM_020639.3(RIPK4):c.2227G>A (p.Ala743Thr) | Inborn genetic diseases [RCV005274186] | uncertain significance | 21 | 41740966 | 41740966 | Human | 1 | name |
| 598228824 | CV3899195 | single nucleotide variant | NM_020639.3(RIPK4):c.1443G>C (p.Arg481Ser) | Inborn genetic diseases [RCV005274187] | uncertain significance | 21 | 41741750 | 41741750 | Human | 1 | name |
| 598228830 | CV3899196 | single nucleotide variant | NM_020639.3(RIPK4):c.2147C>T (p.Ser716Leu) | Inborn genetic diseases [RCV005274188] | uncertain significance | 21 | 41741046 | 41741046 | Human | 1 | name |
| 598228834 | CV3899197 | single nucleotide variant | NM_020639.3(RIPK4):c.1973A>T (p.His658Leu) | Inborn genetic diseases [RCV005274189] | uncertain significance | 21 | 41741220 | 41741220 | Human | 1 | name |
| 8568390 | CV39468 | single nucleotide variant | NM_020639.3(RIPK4):c.1127C>A (p.Ser376Ter) | Bartsocas-Papas syndrome 1 [RCV000023468] | pathogenic | 21 | 41743950 | 41743950 | Human | 1 | name |
| 13802088 | CV576315 | duplication | NM_020639.3(RIPK4):c.1074dup (p.Glu359Ter) | Bartsocas-Papas syndrome 1 [RCV000710016] | pathogenic | 21 | 41744002 | 41744003 | Human | 1 | name |
| 13832088 | CV582580 | single nucleotide variant | NM_020639.3(RIPK4):c.1730C>G (p.Ala577Gly) | not provided [RCV000722771] | uncertain significance | 21 | 41741463 | 41741463 | Human | | name |
| 15109043 | CV757823 | single nucleotide variant | NM_020639.3(RIPK4):c.2330C>T (p.Thr777Met) | Inborn genetic diseases [RCV004029398]|RIPK4-related disorder [RCV003958382]|not provided [RCV000916257] | likely benign|uncertain significance | 21 | 41740863 | 41740863 | Human | 2 | name , trait , alternate_id |
| 15197429 | CV757824 | single nucleotide variant | NM_020639.3(RIPK4):c.2323G>A (p.Ala775Thr) | Bartsocas-Papas syndrome 1 [RCV001139520]|Inborn genetic diseases [RCV004029347]|RIPK4-related disorder [RCV004753110]|not provided [RCV000911971] | benign|likely benign | 21 | 41740870 | 41740870 | Human | 3 | name , trait , alternate_id |
| 15149619 | CV757833 | single nucleotide variant | NM_020639.3(RIPK4):c.1100G>T (p.Ser367Ile) | Bartsocas-Papas syndrome 1 [RCV001140384]|not provided [RCV000923319] | likely benign | 21 | 41743977 | 41743977 | Human | 1 | name |
| 15191585 | CV773354 | single nucleotide variant | NM_020639.3(RIPK4):c.2296C>G (p.Leu766Val) | Bartsocas-Papas syndrome 1 [RCV001139521]|not provided [RCV000932842] | likely benign | 21 | 41740897 | 41740897 | Human | 1 | name |
| 25317019 | CV805042 | single nucleotide variant | NM_020639.3(RIPK4):c.1681G>A (p.Val561Met) | Bartsocas-Papas syndrome 1 [RCV001007777]|not provided [RCV004693438] | uncertain significance | 21 | 41741512 | 41741512 | Human | 1 | name |
| 28893807 | CV886823 | single nucleotide variant | NM_020639.3(RIPK4):c.2041G>A (p.Gly681Arg) | Bartsocas-Papas syndrome 1 [RCV001140286] | uncertain significance | 21 | 41741152 | 41741152 | Human | 1 | name |
| 28898795 | CV886826 | single nucleotide variant | NM_020639.3(RIPK4):c.1862G>A (p.Arg621His) | Bartsocas-Papas syndrome 1 [RCV001142123] | uncertain significance | 21 | 41741331 | 41741331 | Human | 1 | name |
| 28898799 | CV886828 | single nucleotide variant | NM_020639.3(RIPK4):c.1694T>G (p.Leu565Arg) | Bartsocas-Papas syndrome 1 [RCV001142125] | uncertain significance | 21 | 41741499 | 41741499 | Human | 1 | name |
| 28898803 | CV886829 | single nucleotide variant | NM_020639.3(RIPK4):c.1561C>T (p.Arg521Trp) | Bartsocas-Papas syndrome 1 [RCV001142126] | uncertain significance | 21 | 41741632 | 41741632 | Human | 1 | name |
| 28885002 | CV886830 | single nucleotide variant | NM_020639.3(RIPK4):c.1477C>T (p.Arg493Trp) | Bartsocas-Papas syndrome 1 [RCV001137390] | uncertain significance | 21 | 41741716 | 41741716 | Human | 1 | name |
| 28885008 | CV886831 | single nucleotide variant | NM_020639.3(RIPK4):c.1453G>A (p.Gly485Ser) | Bartsocas-Papas syndrome 1 [RCV001137391] | uncertain significance | 21 | 41741740 | 41741740 | Human | 1 | name |
| 28894108 | CV886832 | single nucleotide variant | NM_020639.3(RIPK4):c.1106A>G (p.Lys369Arg) | Bartsocas-Papas syndrome 1 [RCV001140383] | uncertain significance | 21 | 41743971 | 41743971 | Human | 1 | name |
| 28894112 | CV886833 | single nucleotide variant | NM_020639.3(RIPK4):c.1079C>T (p.Ser360Phe) | Bartsocas-Papas syndrome 1 [RCV001140385] | uncertain significance | 21 | 41743998 | 41743998 | Human | 1 | name |
| 28894116 | CV886834 | single nucleotide variant | NM_020639.3(RIPK4):c.1039G>A (p.Val347Ile) | Bartsocas-Papas syndrome 1 [RCV001140386]|Inborn genetic diseases [RCV002559359]|RIPK4-related disorder [RCV003906256]|not provided [RCV004694870] | likely benign|uncertain significance | 21 | 41744038 | 41744038 | Human | 3 | name , trait , alternate_id |
