| 151887694 | CV1341623 | single nucleotide variant | NM_001354930.2(RIPK1):c.165-3C>T | not provided [RCV001887814] | uncertain significance | 6 | 3077776 | 3077776 | Human | | name |
| 151854650 | CV1353741 | single nucleotide variant | NM_001354930.2(RIPK1):c.459+6C>T | not provided [RCV001979378] | uncertain significance | 6 | 3081122 | 3081122 | Human | | name |
| 151793547 | CV1411414 | single nucleotide variant | NM_001354930.2(RIPK1):c.165-9T>G | not provided [RCV002010919] | likely benign|uncertain significance | 6 | 3077770 | 3077770 | Human | | name |
| 151856040 | CV1448944 | duplication | NM_001354930.2(RIPK1):c.321+3dup | not provided [RCV001979533] | uncertain significance | 6 | 3077937 | 3077938 | Human | | name |
| 151871072 | CV1488709 | single nucleotide variant | NM_001354930.2(RIPK1):c.322-1G>C | not provided [RCV002035673] | likely pathogenic | 6 | 3080978 | 3080978 | Human | | name |
| 152139489 | CV1560034 | duplication | NM_001354930.2(RIPK1):c.838+8dup | not provided [RCV002137987] | likely benign | 6 | 3085415 | 3085416 | Human | | name |
| 152082076 | CV1641465 | single nucleotide variant | NM_001354930.2(RIPK1):c.321+8G>C | not provided [RCV002211550] | likely benign | 6 | 3077943 | 3077943 | Human | | name |
| 156282806 | CV2050039 | single nucleotide variant | NM_001354930.2(RIPK1):c.839-5T>C | not provided [RCV002807047] | likely benign | 6 | 3089576 | 3089576 | Human | | name |
| 155913681 | CV2065988 | single nucleotide variant | NM_001354930.2(RIPK1):c.915+6C>G | not provided [RCV002837899] | uncertain significance | 6 | 3089663 | 3089663 | Human | | name |
| 156254267 | CV2162863 | single nucleotide variant | NM_001354930.2(RIPK1):c.838+7G>C | not provided [RCV003026446] | likely benign | 6 | 3085415 | 3085415 | Human | | name |
| 405220917 | CV2965995 | single nucleotide variant | NM_001354930.2(RIPK1):c.165-6C>T | not provided [RCV003680666] | likely benign | 6 | 3077773 | 3077773 | Human | | name |
| 405199919 | CV2969401 | single nucleotide variant | NM_001354930.2(RIPK1):c.322-4T>C | not provided [RCV003678006] | likely benign | 6 | 3080975 | 3080975 | Human | | name |
| 405217038 | CV2972225 | single nucleotide variant | NM_001354930.2(RIPK1):c.915+1G>A | not provided [RCV003680160] | likely pathogenic | 6 | 3089658 | 3089658 | Human | | name |
| 405239677 | CV2979952 | single nucleotide variant | NM_001354930.2(RIPK1):c.915+9T>C | not provided [RCV003683781] | likely benign | 6 | 3089666 | 3089666 | Human | | name |
| 597932069 | CV3742606 | single nucleotide variant | NM_001354930.2(RIPK1):c.838+9A>C | not provided [RCV005076045] | likely benign | 6 | 3085417 | 3085417 | Human | | name |
| 597902395 | CV3779250 | single nucleotide variant | NM_001354930.2(RIPK1):c.321+4G>A | not provided [RCV005127327] | uncertain significance | 6 | 3077939 | 3077939 | Human | | name |
| 597918435 | CV3789732 | single nucleotide variant | NM_001354930.2(RIPK1):c.839-3C>T | not provided [RCV005129827] | uncertain significance | 6 | 3089578 | 3089578 | Human | | name |
| 597955985 | CV3796293 | single nucleotide variant | NM_001354930.2(RIPK1):c.321+3A>G | not provided [RCV005137110] | uncertain significance | 6 | 3077938 | 3077938 | Human | | name |
| 597899712 | CV3796463 | single nucleotide variant | NM_001354930.2(RIPK1):c.915+4G>A | not provided [RCV005152546] | uncertain significance | 6 | 3089661 | 3089661 | Human | | name |
| 597962354 | CV3809150 | single nucleotide variant | NM_001354930.2(RIPK1):c.460-5C>T | not provided [RCV005164052] | likely benign | 6 | 3083080 | 3083080 | Human | | name |
| 597877289 | CV3860242 | single nucleotide variant | NM_001354930.2(RIPK1):c.460-5C>A | not provided [RCV005198451] | uncertain significance | 6 | 3083080 | 3083080 | Human | | name |
| 127305042 | CV1155317 | single nucleotide variant | NM_001354930.2(RIPK1):c.689-16A>C | not provided [RCV001516136] | benign | 6 | 3085243 | 3085243 | Human | | name |
| 152044871 | CV1525639 | single nucleotide variant | NM_001354930.2(RIPK1):c.839-19G>A | not provided [RCV002126541] | likely benign | 6 | 3089562 | 3089562 | Human | | name |
| 152109152 | CV1563824 | deletion | NM_001354930.2(RIPK1):c.164+14del | not provided [RCV002174106] | benign | 6 | 3077001 | 3077001 | Human | | name |
| 152110126 | CV1563982 | deletion | NM_001354930.2(RIPK1):c.321+14del | not provided [RCV002174224] | likely benign | 6 | 3077946 | 3077946 | Human | | name |
| 152078814 | CV1564916 | single nucleotide variant | NM_001354930.2(RIPK1):c.1730-9A>G | not provided [RCV002192770] | likely benign | 6 | 3113044 | 3113044 | Human | | name |
| 152085998 | CV1573815 | single nucleotide variant | NM_001354930.2(RIPK1):c.688+16C>T | not provided [RCV002149935] | likely benign | 6 | 3083329 | 3083329 | Human | | name |
| 152098040 | CV1578359 | single nucleotide variant | NM_001354930.2(RIPK1):c.689-15G>A | not provided [RCV002151448] | likely benign | 6 | 3085244 | 3085244 | Human | | name |
| 152145656 | CV1582699 | single nucleotide variant | NM_001354930.2(RIPK1):c.165-16C>T | not provided [RCV002201201] | likely benign | 6 | 3077763 | 3077763 | Human | | name |
| 152170645 | CV1592519 | single nucleotide variant | NM_001354930.2(RIPK1):c.460-18G>C | not provided [RCV002161841] | likely benign | 6 | 3083067 | 3083067 | Human | | name |
| 152093439 | CV1625866 | single nucleotide variant | NM_001354930.2(RIPK1):c.838+12T>A | not provided [RCV002150885] | likely benign | 6 | 3085420 | 3085420 | Human | | name |
| 156349165 | CV1989321 | single nucleotide variant | NM_001354930.2(RIPK1):c.459+13C>T | not provided [RCV002631852] | likely benign | 6 | 3081129 | 3081129 | Human | | name |
| 156069706 | CV2018495 | single nucleotide variant | NM_001354930.2(RIPK1):c.322-14A>T | not provided [RCV002705644] | likely benign | 6 | 3080965 | 3080965 | Human | | name |
| 155928246 | CV2041608 | single nucleotide variant | NM_001354930.2(RIPK1):c.321+14C>T | not provided [RCV002751031] | likely benign | 6 | 3077949 | 3077949 | Human | | name |
| 155988516 | CV2133370 | single nucleotide variant | NM_001354930.2(RIPK1):c.689-10T>C | not provided [RCV002996453] | likely benign | 6 | 3085249 | 3085249 | Human | | name |
| 156397321 | CV2178395 | single nucleotide variant | NM_001354930.2(RIPK1):c.915+19G>A | not provided [RCV003051985] | likely benign | 6 | 3089676 | 3089676 | Human | | name |
| 404987742 | CV2849481 | single nucleotide variant | NM_001354930.2(RIPK1):c.321+97C>A | not specified [RCV003490338] | benign | 6 | 3078032 | 3078032 | Human | | name |
| 402492525 | CV2863251 | single nucleotide variant | NM_001354930.2(RIPK1):c.1576+7G>C | RIPK1-related disorder [RCV003939069]|not provided [RCV003573158] | likely benign | 6 | 3106058 | 3106058 | Human | 1 | name , trait , alternate_id |
| 402492324 | CV2877891 | single nucleotide variant | NM_001354930.2(RIPK1):c.1576+9G>A | not provided [RCV003545066] | likely benign | 6 | 3106060 | 3106060 | Human | | name |
| 405183461 | CV2920243 | single nucleotide variant | NM_001354930.2(RIPK1):c.321+12C>T | not provided [RCV003564218] | likely benign | 6 | 3077947 | 3077947 | Human | | name |
| 405246014 | CV2965651 | single nucleotide variant | NM_001354930.2(RIPK1):c.322-10C>A | not provided [RCV003685319] | likely benign | 6 | 3080969 | 3080969 | Human | | name |
| 405236385 | CV2973428 | single nucleotide variant | NM_001354930.2(RIPK1):c.1577-5T>A | not provided [RCV003683153] | uncertain significance | 6 | 3110798 | 3110798 | Human | | name |
| 405196768 | CV2976122 | single nucleotide variant | NM_001354930.2(RIPK1):c.839-17A>T | not provided [RCV003677744] | likely benign | 6 | 3089564 | 3089564 | Human | | name |
| 405239894 | CV2993536 | single nucleotide variant | NM_001354930.2(RIPK1):c.459+10C>G | not provided [RCV003718976] | likely benign | 6 | 3081126 | 3081126 | Human | | name |
| 405117442 | CV3020089 | single nucleotide variant | NM_001354930.2(RIPK1):c.321+20A>T | not provided [RCV003700266] | likely benign | 6 | 3077955 | 3077955 | Human | | name |
| 405186181 | CV3040499 | deletion | NM_001354930.2(RIPK1):c.460-17del | not provided [RCV003706036] | likely benign | 6 | 3083068 | 3083068 | Human | | name |
| 405041506 | CV3154027 | single nucleotide variant | NM_001354930.2(RIPK1):c.321+17C>T | not provided [RCV003848895] | likely benign | 6 | 3077952 | 3077952 | Human | | name |
| 405227461 | CV3180206 | single nucleotide variant | NM_001354930.2(RIPK1):c.321+13C>G | not provided [RCV003864626] | likely benign | 6 | 3077948 | 3077948 | Human | | name |
| 597853251 | CV3737726 | single nucleotide variant | NM_001354930.2(RIPK1):c.459+14G>A | not provided [RCV005066499] | likely benign | 6 | 3081130 | 3081130 | Human | | name |
| 597872568 | CV3769733 | single nucleotide variant | NM_001354930.2(RIPK1):c.1576+2T>G | not provided [RCV005107991] | likely pathogenic | 6 | 3106053 | 3106053 | Human | | name |
| 597903612 | CV3804664 | single nucleotide variant | NM_001354930.2(RIPK1):c.1006+5A>C | not provided [RCV005153099] | uncertain significance | 6 | 3104320 | 3104320 | Human | | name |
| 597957733 | CV3814444 | single nucleotide variant | NM_001354930.2(RIPK1):c.1729+9C>A | not provided [RCV005162775] | likely benign | 6 | 3110964 | 3110964 | Human | | name |
| 597838441 | CV3824809 | single nucleotide variant | NM_001354930.2(RIPK1):c.916-13C>T | not provided [RCV005171673] | likely benign | 6 | 3104212 | 3104212 | Human | | name |
| 597837849 | CV3828874 | single nucleotide variant | NM_001354930.2(RIPK1):c.322-14A>G | not provided [RCV005171567] | likely benign | 6 | 3080965 | 3080965 | Human | | name |
| 597974880 | CV3831893 | single nucleotide variant | NM_001354930.2(RIPK1):c.839-15A>C | not provided [RCV005168832] | likely benign | 6 | 3089566 | 3089566 | Human | | name |
| 598125428 | CV3881590 | single nucleotide variant | NM_001354930.2(RIPK1):c.1577-1G>A | not provided [RCV005232496] | likely pathogenic | 6 | 3110802 | 3110802 | Human | | name |
| 127316283 | CV1155321 | single nucleotide variant | NM_001354930.2(RIPK1):c.1576+15G>A | not provided [RCV001520417] | benign | 6 | 3106066 | 3106066 | Human | | name |
| 152155395 | CV1520287 | single nucleotide variant | NM_001354930.2(RIPK1):c.1729+18G>T | not provided [RCV002140101] | likely benign | 6 | 3110973 | 3110973 | Human | | name |
| 152149608 | CV1545420 | single nucleotide variant | NM_001354930.2(RIPK1):c.1007-13C>T | not provided [RCV002121556] | likely benign | 6 | 3105469 | 3105469 | Human | | name |
| 152119181 | CV1593606 | single nucleotide variant | NM_001354930.2(RIPK1):c.1730-15T>C | See cases [RCV002252763]|not provided [RCV002097915] | benign|uncertain significance | 6 | 3113038 | 3113038 | Human | | name |
| 156093619 | CV1980781 | single nucleotide variant | NM_001354930.2(RIPK1):c.1007-11T>C | not provided [RCV002621950] | likely benign | 6 | 3105471 | 3105471 | Human | | name |
| 155918784 | CV1981117 | single nucleotide variant | NM_001354930.2(RIPK1):c.1007-16G>A | not provided [RCV002614448] | likely benign | 6 | 3105466 | 3105466 | Human | | name |
| 156362529 | CV2003303 | single nucleotide variant | NM_001354930.2(RIPK1):c.1577-18G>A | not provided [RCV002676340] | likely benign | 6 | 3110785 | 3110785 | Human | | name |
| 155965019 | CV2048700 | single nucleotide variant | NM_001354930.2(RIPK1):c.1007-17T>C | not provided [RCV002776448] | likely benign | 6 | 3105465 | 3105465 | Human | | name |
| 156355775 | CV2188802 | single nucleotide variant | NM_001354930.2(RIPK1):c.1006+18C>A | not provided [RCV003048673] | likely benign | 6 | 3104333 | 3104333 | Human | | name |
| 405197420 | CV2880230 | single nucleotide variant | NM_001354930.2(RIPK1):c.1577-18G>C | not provided [RCV003551020] | likely benign | 6 | 3110785 | 3110785 | Human | | name |
| 405221862 | CV2908127 | single nucleotide variant | NM_001354930.2(RIPK1):c.1730-11C>A | not provided [RCV003568473] | likely benign | 6 | 3113042 | 3113042 | Human | | name |
| 597863231 | CV3745288 | single nucleotide variant | NM_001354930.2(RIPK1):c.1576+14C>T | not provided [RCV005067644] | likely benign | 6 | 3106065 | 3106065 | Human | | name |
| 597924787 | CV3748529 | deletion | NM_001354930.2(RIPK1):c.1729+11del | not provided [RCV005075177] | likely benign | 6 | 3110964 | 3110964 | Human | | name |
| 597880394 | CV3810233 | single nucleotide variant | NM_001354930.2(RIPK1):c.1006+16G>A | not provided [RCV005149694] | likely benign | 6 | 3104331 | 3104331 | Human | | name |
| 597913732 | CV3816948 | single nucleotide variant | NM_001354930.2(RIPK1):c.1729+11C>T | not provided [RCV005154345] | likely benign | 6 | 3110966 | 3110966 | Human | | name |
| 597896834 | CV3834652 | single nucleotide variant | NM_001354930.2(RIPK1):c.1006+13A>G | not provided [RCV005180563] | likely benign | 6 | 3104328 | 3104328 | Human | | name |
| 13797816 | CV552271 | deletion | NM_001354930.2(RIPK1):c.688_688+20del | Immunodeficiency 57 [RCV000680191] | pathogenic | 6 | 3083313 | 3083333 | Human | 1 | name |
| 152037962 | CV1530346 | single nucleotide variant | NM_001354930.2(RIPK1):c.27C>G (p.Val9=) | not provided [RCV002087525] | likely benign | 6 | 3076850 | 3076850 | Human | | name |
| 127287018 | CV1137481 | single nucleotide variant | NM_001354930.2(RIPK1):c.99G>A (p.Leu33=) | not provided [RCV001494671] | likely benign | 6 | 3076922 | 3076922 | Human | | name |
| 127303826 | CV1155316 | single nucleotide variant | NM_001354930.2(RIPK1):c.84T>C (p.Phe28=) | Autoinflammation with episodic fever and lymphadenopathy [RCV001796540]|Immunodeficiency 57 [RCV001796539]|not provided [RCV001515633]|not specified [RCV003394092] | benign | 6 | 3076907 | 3076907 | Human | 2 | name , alternate_id |
| 151877420 | CV1480961 | single nucleotide variant | NM_001354930.2(RIPK1):c.2T>A (p.Met1Lys) | not provided [RCV001982078] | uncertain significance | 6 | 3076825 | 3076825 | Human | | name |
| 152096381 | CV1565868 | single nucleotide variant | NM_001354930.2(RIPK1):c.42C>T (p.Ser14=) | not provided [RCV002094896] | likely benign | 6 | 3076865 | 3076865 | Human | | name |
| 152034987 | CV1584741 | deletion | NM_001354930.2(RIPK1):c.321+13_321+14del | not provided [RCV002125186] | likely benign | 6 | 3077946 | 3077947 | Human | | name |
| 156060702 | CV1930987 | single nucleotide variant | NM_001354930.2(RIPK1):c.75C>T (p.Ser25=) | not provided [RCV002638275] | likely benign | 6 | 3076898 | 3076898 | Human | | name |
| 402477859 | CV2858266 | deletion | NM_001354930.2(RIPK1):c.460-13_460-12del | not provided [RCV003543671] | uncertain significance | 6 | 3083072 | 3083073 | Human | | name |
| 405217287 | CV3160952 | duplication | NM_001354930.2(RIPK1):c.321+19_321+22dup | not provided [RCV003863014] | likely benign | 6 | 3077951 | 3077952 | Human | | name |
| 597832997 | CV3831422 | deletion | NM_001354930.2(RIPK1):c.688+15_688+17del | not provided [RCV005170625] | likely benign | 6 | 3083327 | 3083329 | Human | | name |
| 597899237 | CV3854650 | single nucleotide variant | NM_001354930.2(RIPK1):c.1A>G (p.Met1Val) | not provided [RCV005201758] | uncertain significance | 6 | 3076824 | 3076824 | Human | | name |
| 151720668 | CV1491573 | single nucleotide variant | NM_001354930.2(RIPK1):c.168C>T (p.His56=) | not provided [RCV002003617] | likely benign | 6 | 3077782 | 3077782 | Human | | name |
| 152085723 | CV1573765 | single nucleotide variant | NM_001354930.2(RIPK1):c.171C>T (p.Asn57=) | not provided [RCV002149896] | likely benign | 6 | 3077785 | 3077785 | Human | | name |
| 152082236 | CV1607971 | single nucleotide variant | NM_001354930.2(RIPK1):c.144C>T (p.Tyr48=) | not provided [RCV002193172] | likely benign | 6 | 3076967 | 3076967 | Human | | name |
| 152141615 | CV1628972 | single nucleotide variant | NM_001354930.2(RIPK1):c.270G>T (p.Leu90=) | not provided [RCV002100854] | likely benign | 6 | 3077884 | 3077884 | Human | | name |
| 152028234 | CV1655140 | single nucleotide variant | NM_001354930.2(RIPK1):c.240C>T (p.Gly80=) | not provided [RCV002105164] | likely benign | 6 | 3077854 | 3077854 | Human | | name |
| 156406392 | CV1963604 | single nucleotide variant | NM_001354930.2(RIPK1):c.117G>A (p.Gln39=) | not provided [RCV002585894] | likely benign | 6 | 3076940 | 3076940 | Human | | name |
| 156236733 | CV1999620 | single nucleotide variant | NM_001354930.2(RIPK1):c.268C>T (p.Leu90=) | not provided [RCV002667784] | likely benign | 6 | 3077882 | 3077882 | Human | | name |
| 156203668 | CV2004317 | single nucleotide variant | NM_001354930.2(RIPK1):c.192G>A (p.Ala64=) | not provided [RCV002666586] | likely benign | 6 | 3077806 | 3077806 | Human | | name |
| 155959328 | CV2083369 | single nucleotide variant | NM_001354930.2(RIPK1):c.150G>A (p.Gly50=) | not provided [RCV002862782] | likely benign | 6 | 3076973 | 3076973 | Human | | name |
| 156062217 | CV2096218 | single nucleotide variant | NM_001354930.2(RIPK1):c.114C>T (p.Thr38=) | not provided [RCV002886547] | likely benign | 6 | 3076937 | 3076937 | Human | | name |
| 156338365 | CV2106578 | single nucleotide variant | NM_001354930.2(RIPK1):c.225G>A (p.Val75=) | not provided [RCV002938761] | likely benign | 6 | 3077839 | 3077839 | Human | | name |
| 405007412 | CV3006505 | single nucleotide variant | NM_001354930.2(RIPK1):c.237G>A (p.Leu79=) | not provided [RCV003693698] | likely benign | 6 | 3077851 | 3077851 | Human | | name |
| 405253934 | CV3045140 | single nucleotide variant | NM_001354930.2(RIPK1):c.267C>T (p.Ser89=) | not provided [RCV003722765] | likely benign | 6 | 3077881 | 3077881 | Human | | name |
| 405248247 | CV3159185 | single nucleotide variant | NM_001354930.2(RIPK1):c.291G>A (p.Lys97=) | not provided [RCV003869330] | likely benign | 6 | 3077905 | 3077905 | Human | | name |
| 597896486 | CV3740408 | single nucleotide variant | NM_001354930.2(RIPK1):c.186G>A (p.Glu62=) | not provided [RCV005071761] | likely benign | 6 | 3077800 | 3077800 | Human | | name |
| 597872321 | CV3768507 | single nucleotide variant | NM_001354930.2(RIPK1):c.15G>A (p.Met5Ile) | not provided [RCV005122886] | uncertain significance | 6 | 3076838 | 3076838 | Human | | name |
| 597908519 | CV3781678 | single nucleotide variant | NM_001354930.2(RIPK1):c.195G>A (p.Lys65=) | not provided [RCV005128366] | likely benign | 6 | 3077809 | 3077809 | Human | | name |
| 597937158 | CV3787829 | single nucleotide variant | NM_001354930.2(RIPK1):c.22A>G (p.Asn8Asp) | not provided [RCV005132708] | uncertain significance | 6 | 3076845 | 3076845 | Human | | name |
| 597885492 | CV3799983 | single nucleotide variant | NM_001354930.2(RIPK1):c.237G>C (p.Leu79=) | not provided [RCV005150462] | likely benign | 6 | 3077851 | 3077851 | Human | | name |
| 597929103 | CV3816228 | single nucleotide variant | NM_001354930.2(RIPK1):c.228G>A (p.Val76=) | not provided [RCV005156809] | likely benign | 6 | 3077842 | 3077842 | Human | | name |
| 597937692 | CV3862755 | single nucleotide variant | NM_001354930.2(RIPK1):c.243C>T (p.Val81=) | not provided [RCV005208027] | likely benign | 6 | 3077857 | 3077857 | Human | | name |
| 127282566 | CV1073408 | single nucleotide variant | NM_001354930.2(RIPK1):c.489G>A (p.Lys163=) | not provided [RCV001411190] | likely benign | 6 | 3083114 | 3083114 | Human | | name |
| 127302741 | CV1155319 | single nucleotide variant | NM_001354930.2(RIPK1):c.709T>C (p.Leu237=) | RIPK1-related disorder [RCV003921113]|not provided [RCV001515173] | benign | 6 | 3085279 | 3085279 | Human | 1 | name , trait , alternate_id |
| 151780506 | CV1446262 | single nucleotide variant | NM_001354930.2(RIPK1):c.591C>T (p.His197=) | not provided [RCV001989086] | likely benign | 6 | 3083216 | 3083216 | Human | | name |
| 151741153 | CV1500992 | single nucleotide variant | NM_001354930.2(RIPK1):c.82T>C (p.Phe28Leu) | Immunodeficiency 57 [RCV002492077]|not provided [RCV001985251] | uncertain significance | 6 | 3076905 | 3076905 | Human | 1 | name , alternate_id |
| 152046678 | CV1519655 | single nucleotide variant | NM_001354930.2(RIPK1):c.40T>G (p.Ser14Ala) | not provided [RCV002145163] | likely benign | 6 | 3076863 | 3076863 | Human | | name |
| 152064887 | CV1525877 | single nucleotide variant | NM_001354930.2(RIPK1):c.510T>C (p.Asn170=) | not provided [RCV002128832] | likely benign | 6 | 3083135 | 3083135 | Human | | name |
| 152158925 | CV1529147 | single nucleotide variant | NM_001354930.2(RIPK1):c.816G>A (p.Pro272=) | not provided [RCV002159283] | likely benign | 6 | 3085386 | 3085386 | Human | | name |
| 152052674 | CV1531754 | single nucleotide variant | NM_001354930.2(RIPK1):c.660G>A (p.Ala220=) | not provided [RCV002072575] | likely benign | 6 | 3083285 | 3083285 | Human | | name |
| 152044065 | CV1534379 | single nucleotide variant | NM_001354930.2(RIPK1):c.942T>C (p.Val314=) | not provided [RCV002088337] | likely benign | 6 | 3104251 | 3104251 | Human | | name |
| 152143192 | CV1538364 | single nucleotide variant | NM_001354930.2(RIPK1):c.318C>T (p.Ala106=) | not provided [RCV002219650] | likely benign | 6 | 3077932 | 3077932 | Human | | name |
| 152111834 | CV1539134 | single nucleotide variant | NM_001354930.2(RIPK1):c.828G>A (p.Pro276=) | not provided [RCV002080359] | likely benign | 6 | 3085398 | 3085398 | Human | | name |
| 152122215 | CV1541441 | single nucleotide variant | NM_001354930.2(RIPK1):c.768C>T (p.Cys256=) | not provided [RCV002175730] | likely benign | 6 | 3085338 | 3085338 | Human | | name |
| 152063536 | CV1542460 | single nucleotide variant | NM_001354930.2(RIPK1):c.900C>T (p.Asp300=) | not provided [RCV002208998] | likely benign | 6 | 3089642 | 3089642 | Human | | name |
| 152079168 | CV1557844 | single nucleotide variant | NM_001354930.2(RIPK1):c.309G>C (p.Val103=) | not provided [RCV002170315] | likely benign | 6 | 3077923 | 3077923 | Human | | name |
| 152127123 | CV1572043 | single nucleotide variant | NM_001354930.2(RIPK1):c.399C>T (p.Gly133=) | not provided [RCV002217565] | likely benign | 6 | 3081056 | 3081056 | Human | | name |
| 152095298 | CV1575149 | single nucleotide variant | NM_001354930.2(RIPK1):c.582G>A (p.Ala194=) | RIPK1-related disorder [RCV003951190]|not provided [RCV002132545] | likely benign | 6 | 3083207 | 3083207 | Human | 1 | name , trait , alternate_id |
| 152107392 | CV1579399 | single nucleotide variant | NM_001354930.2(RIPK1):c.399C>G (p.Gly133=) | not provided [RCV002173893] | likely benign | 6 | 3081056 | 3081056 | Human | | name |
| 152043191 | CV1581566 | single nucleotide variant | NM_001354930.2(RIPK1):c.585C>T (p.Pro195=) | not provided [RCV002071284] | likely benign | 6 | 3083210 | 3083210 | Human | | name |
| 152073024 | CV1598061 | single nucleotide variant | NM_001354930.2(RIPK1):c.621G>A (p.Glu207=) | not provided [RCV002169541] | likely benign | 6 | 3083246 | 3083246 | Human | | name |
| 152099835 | CV1627334 | single nucleotide variant | NM_001354930.2(RIPK1):c.888T>C (p.Ser296=) | not provided [RCV002095374] | likely benign | 6 | 3089630 | 3089630 | Human | | name |
| 152048737 | CV1656920 | single nucleotide variant | NM_001354930.2(RIPK1):c.930C>T (p.Asn310=) | not provided [RCV002189135] | likely benign | 6 | 3104239 | 3104239 | Human | | name |
| 156401158 | CV1907939 | single nucleotide variant | NM_001354930.2(RIPK1):c.333G>A (p.Pro111=) | not provided [RCV002584890] | likely benign | 6 | 3080990 | 3080990 | Human | | name |
| 156417486 | CV1909754 | single nucleotide variant | NM_001354930.2(RIPK1):c.540C>T (p.Asp180=) | not provided [RCV002610742] | likely benign | 6 | 3083165 | 3083165 | Human | | name |
| 156260482 | CV1960622 | single nucleotide variant | NM_001354930.2(RIPK1):c.606C>T (p.Asn202=) | not provided [RCV002576829] | likely benign | 6 | 3083231 | 3083231 | Human | | name |
| 156323945 | CV1976417 | single nucleotide variant | NM_001354930.2(RIPK1):c.306C>T (p.His102=) | not provided [RCV002600411] | likely benign | 6 | 3077920 | 3077920 | Human | | name |
| 156366907 | CV2020974 | single nucleotide variant | NM_001354930.2(RIPK1):c.420G>A (p.Lys140=) | not provided [RCV002721244] | likely benign | 6 | 3081077 | 3081077 | Human | | name |
| 156147573 | CV2037447 | single nucleotide variant | NM_001354930.2(RIPK1):c.549T>C (p.Ala183=) | not provided [RCV002786742] | likely benign | 6 | 3083174 | 3083174 | Human | | name |
| 156252254 | CV2060443 | single nucleotide variant | NM_001354930.2(RIPK1):c.810G>A (p.Ala270=) | not provided [RCV002791737] | likely benign | 6 | 3085380 | 3085380 | Human | | name |
| 156381800 | CV2060866 | single nucleotide variant | NM_001354930.2(RIPK1):c.71A>C (p.Asp24Ala) | not provided [RCV002815138] | uncertain significance | 6 | 3076894 | 3076894 | Human | | name |
| 156348775 | CV2061983 | single nucleotide variant | NM_001354930.2(RIPK1):c.573C>T (p.Tyr191=) | not provided [RCV002811624] | likely benign | 6 | 3083198 | 3083198 | Human | | name |
| 155911723 | CV2069571 | single nucleotide variant | NM_001354930.2(RIPK1):c.41C>T (p.Ser14Phe) | not provided [RCV002837768] | uncertain significance | 6 | 3076864 | 3076864 | Human | | name |
| 156152708 | CV2070485 | single nucleotide variant | NM_001354930.2(RIPK1):c.502C>T (p.Leu168=) | not provided [RCV002850923] | likely benign | 6 | 3083127 | 3083127 | Human | | name |
| 155941466 | CV2075976 | single nucleotide variant | NM_001354930.2(RIPK1):c.972T>C (p.Asp324=) | not provided [RCV002861809] | likely benign | 6 | 3104281 | 3104281 | Human | | name |
| 156309793 | CV2109466 | single nucleotide variant | NM_001354930.2(RIPK1):c.741A>G (p.Pro247=) | not provided [RCV002923006] | likely benign | 6 | 3085311 | 3085311 | Human | | name |
| 156356382 | CV2126087 | single nucleotide variant | NM_001354930.2(RIPK1):c.951A>G (p.Arg317=) | not provided [RCV002966693] | likely benign | 6 | 3104260 | 3104260 | Human | | name |
| 156041139 | CV2143456 | single nucleotide variant | NM_001354930.2(RIPK1):c.561C>T (p.Gly187=) | not provided [RCV002999526] | likely benign | 6 | 3083186 | 3083186 | Human | | name |
| 156154687 | CV2150724 | single nucleotide variant | NM_001354930.2(RIPK1):c.76G>A (p.Gly26Arg) | not provided [RCV003022976] | uncertain significance | 6 | 3076899 | 3076899 | Human | | name |
| 156096893 | CV2163436 | single nucleotide variant | NM_001354930.2(RIPK1):c.576C>T (p.Tyr192=) | not provided [RCV003038426] | likely benign | 6 | 3083201 | 3083201 | Human | | name |
| 401918219 | CV2822653 | single nucleotide variant | NM_001354930.2(RIPK1):c.636C>T (p.Tyr212=) | not provided [RCV003430076] | likely benign | 6 | 3083261 | 3083261 | Human | | name |
| 402492207 | CV2877717 | single nucleotide variant | NM_001354930.2(RIPK1):c.558T>C (p.Asn186=) | not provided [RCV003544993] | likely benign | 6 | 3083183 | 3083183 | Human | | name |
| 405056444 | CV2932080 | single nucleotide variant | NM_001354930.2(RIPK1):c.438T>C (p.Val146=) | not provided [RCV003580162] | likely benign | 6 | 3081095 | 3081095 | Human | | name |
| 405233528 | CV2965402 | single nucleotide variant | NM_001354930.2(RIPK1):c.498C>T (p.Ser166=) | not provided [RCV003682567] | likely benign | 6 | 3083123 | 3083123 | Human | | name |
| 405120961 | CV3131537 | single nucleotide variant | NM_001354930.2(RIPK1):c.960T>C (p.Ser320=) | not provided [RCV003837401] | likely benign | 6 | 3104269 | 3104269 | Human | | name |
| 405148588 | CV3141862 | single nucleotide variant | NM_001354930.2(RIPK1):c.95C>T (p.Ser32Phe) | not provided [RCV003839784] | uncertain significance | 6 | 3076918 | 3076918 | Human | | name |
| 405101471 | CV3144323 | single nucleotide variant | NM_001354930.2(RIPK1):c.750T>C (p.Asp250=) | not provided [RCV003852776] | likely benign | 6 | 3085320 | 3085320 | Human | | name |
| 405231549 | CV3157362 | single nucleotide variant | NM_001354930.2(RIPK1):c.310C>T (p.Leu104=) | not provided [RCV003865312] | likely benign | 6 | 3077924 | 3077924 | Human | | name |
| 405157967 | CV3159775 | single nucleotide variant | NM_001354930.2(RIPK1):c.876A>G (p.Gln292=) | not provided [RCV003856846] | uncertain significance | 6 | 3089618 | 3089618 | Human | | name |
| 405237823 | CV3165387 | single nucleotide variant | NM_001354930.2(RIPK1):c.546C>G (p.Thr182=) | not provided [RCV003866589] | likely benign | 6 | 3083171 | 3083171 | Human | | name |
| 402469988 | CV3171036 | single nucleotide variant | NM_001354930.2(RIPK1):c.600C>T (p.Asp200=) | not provided [RCV003873999] | likely benign | 6 | 3083225 | 3083225 | Human | | name |
| 402496717 | CV3179258 | single nucleotide variant | NM_001354930.2(RIPK1):c.753C>T (p.Asp251=) | not provided [RCV003877525] | likely benign | 6 | 3085323 | 3085323 | Human | | name |
| 597654716 | CV3552134 | single nucleotide variant | NM_001354930.2(RIPK1):c.85G>C (p.Gly29Arg) | Autoinflammation with episodic fever and lymphadenopathy [RCV004820991] | uncertain significance | 6 | 3076908 | 3076908 | Human | 1 | name , alternate_id |
| 597890326 | CV3762859 | single nucleotide variant | NM_001354930.2(RIPK1):c.381C>T (p.Cys127=) | not provided [RCV005110632] | likely benign | 6 | 3081038 | 3081038 | Human | | name |
| 597967420 | CV3824236 | single nucleotide variant | NM_001354930.2(RIPK1):c.648A>G (p.Val216=) | not provided [RCV005165459] | likely benign | 6 | 3083273 | 3083273 | Human | | name |
| 597840217 | CV3825281 | single nucleotide variant | NM_001354930.2(RIPK1):c.71A>T (p.Asp24Val) | not provided [RCV005171964] | uncertain significance | 6 | 3076894 | 3076894 | Human | | name |
| 597894375 | CV3857183 | single nucleotide variant | NM_001354930.2(RIPK1):c.384C>T (p.Tyr128=) | not provided [RCV005201047] | likely benign | 6 | 3081041 | 3081041 | Human | | name |
| 13797818 | CV552272 | deletion | NM_001354930.2(RIPK1):c.460-133_689-244del | Immunodeficiency 57 [RCV000680192] | pathogenic | 6 | 3082951 | 3085014 | Human | 1 | name |
| 127249300 | CV1094988 | single nucleotide variant | NM_001354930.2(RIPK1):c.1861C>A (p.Arg621=) | not provided [RCV001436064] | likely benign | 6 | 3113184 | 3113184 | Human | | name |
| 150334460 | CV1165781 | single nucleotide variant | NM_001354930.2(RIPK1):c.212G>C (p.Arg71Thr) | Inborn genetic diseases [RCV004039212]|not provided [RCV001530995] | uncertain significance | 6 | 3077826 | 3077826 | Human | 1 | name |
| 150529320 | CV1288877 | single nucleotide variant | NM_001354930.2(RIPK1):c.1872G>C (p.Leu624=) | not provided [RCV001727345] | likely benign | 6 | 3113195 | 3113195 | Human | | name |
| 151840376 | CV1345867 | single nucleotide variant | NM_001354930.2(RIPK1):c.221G>A (p.Arg74Gln) | not provided [RCV001902765] | uncertain significance | 6 | 3077835 | 3077835 | Human | | name |
| 151878084 | CV1350256 | single nucleotide variant | NM_001354930.2(RIPK1):c.126G>A (p.Met42Ile) | not provided [RCV002036500] | uncertain significance | 6 | 3076949 | 3076949 | Human | | name |
| 151862529 | CV1353488 | single nucleotide variant | NM_001354930.2(RIPK1):c.187G>T (p.Glu63Ter) | not provided [RCV001924184] | pathogenic | 6 | 3077801 | 3077801 | Human | | name |
| 151813362 | CV1373172 | single nucleotide variant | NM_001354930.2(RIPK1):c.290A>G (p.Lys97Arg) | not provided [RCV001900171] | uncertain significance | 6 | 3077904 | 3077904 | Human | | name |
| 151838339 | CV1382734 | single nucleotide variant | NM_001354930.2(RIPK1):c.178C>G (p.Leu60Val) | Inborn genetic diseases [RCV004044844]|not provided [RCV002031525] | uncertain significance | 6 | 3077792 | 3077792 | Human | 1 | name |
| 151728526 | CV1410018 | single nucleotide variant | NM_001354930.2(RIPK1):c.191C>T (p.Ala64Val) | Inborn genetic diseases [RCV002557831]|not provided [RCV001910630] | uncertain significance | 6 | 3077805 | 3077805 | Human | 1 | name |
| 151826251 | CV1414657 | single nucleotide variant | NM_001354930.2(RIPK1):c.241G>A (p.Val81Ile) | See cases [RCV002252719]|not provided [RCV001920047] | uncertain significance | 6 | 3077855 | 3077855 | Human | | name |
| 151875345 | CV1461226 | single nucleotide variant | NM_001354930.2(RIPK1):c.172G>A (p.Glu58Lys) | not provided [RCV001925742] | uncertain significance | 6 | 3077786 | 3077786 | Human | | name |
| 151848481 | CV1480334 | single nucleotide variant | NM_001354930.2(RIPK1):c.151C>T (p.Pro51Ser) | not provided [RCV001903771] | uncertain significance | 6 | 3076974 | 3076974 | Human | | name |
| 152027785 | CV1521041 | single nucleotide variant | NM_001354930.2(RIPK1):c.1062G>C (p.Val354=) | not provided [RCV002085246] | likely benign | 6 | 3105537 | 3105537 | Human | | name |
| 152159486 | CV1522652 | single nucleotide variant | NM_001354930.2(RIPK1):c.1029G>A (p.Leu343=) | not provided [RCV002140671] | benign | 6 | 3105504 | 3105504 | Human | | name |
| 152065446 | CV1539768 | single nucleotide variant | NM_001354930.2(RIPK1):c.2001C>T (p.Tyr667=) | RIPK1-related disorder [RCV003895844]|not provided [RCV002147357] | likely benign | 6 | 3113324 | 3113324 | Human | 1 | name , trait , alternate_id |
| 152061518 | CV1540794 | single nucleotide variant | NM_001354930.2(RIPK1):c.1605T>C (p.Asn535=) | not provided [RCV002110171] | likely benign | 6 | 3110831 | 3110831 | Human | | name |
| 152133163 | CV1547051 | single nucleotide variant | NM_001354930.2(RIPK1):c.1212T>C (p.Ala404=) | not provided [RCV002155806] | likely benign | 6 | 3105687 | 3105687 | Human | | name |
| 152138209 | CV1549488 | single nucleotide variant | NM_001354930.2(RIPK1):c.1311T>G (p.Thr437=) | not provided [RCV002156413] | likely benign | 6 | 3105786 | 3105786 | Human | | name |
| 152050712 | CV1552703 | single nucleotide variant | NM_001354930.2(RIPK1):c.1032C>T (p.His344=) | not provided [RCV002145658] | likely benign | 6 | 3105507 | 3105507 | Human | | name |
| 152093990 | CV1561362 | single nucleotide variant | NM_001354930.2(RIPK1):c.1095C>T (p.His365=) | not provided [RCV002094584] | likely benign | 6 | 3105570 | 3105570 | Human | | name |
| 152040859 | CV1561947 | single nucleotide variant | NM_001354930.2(RIPK1):c.1692C>T (p.Phe564=) | not provided [RCV002188238] | likely benign | 6 | 3110918 | 3110918 | Human | | name |
| 152076895 | CV1565584 | single nucleotide variant | NM_001354930.2(RIPK1):c.1989C>T (p.Ser663=) | not provided [RCV002148805] | likely benign | 6 | 3113312 | 3113312 | Human | | name |
| 152101606 | CV1578913 | single nucleotide variant | NM_001354930.2(RIPK1):c.1782G>C (p.Leu594=) | not provided [RCV002079067] | likely benign | 6 | 3113105 | 3113105 | Human | | name |
| 152034786 | CV1590208 | single nucleotide variant | NM_001354930.2(RIPK1):c.1656G>A (p.Thr552=) | not provided [RCV002205405] | likely benign | 6 | 3110882 | 3110882 | Human | | name |
| 152031325 | CV1591074 | single nucleotide variant | NM_001354930.2(RIPK1):c.1083T>C (p.Pro361=) | not provided [RCV002186671] | benign | 6 | 3105558 | 3105558 | Human | | name |
| 152167872 | CV1611755 | single nucleotide variant | NM_001354930.2(RIPK1):c.1824A>G (p.Thr608=) | not provided [RCV002182280] | likely benign | 6 | 3113147 | 3113147 | Human | | name |
| 152156317 | CV1615753 | single nucleotide variant | NM_001354930.2(RIPK1):c.1671A>G (p.Leu557=) | not provided [RCV002158901] | likely benign | 6 | 3110897 | 3110897 | Human | | name |
| 152049722 | CV1618589 | single nucleotide variant | NM_001354930.2(RIPK1):c.1749G>A (p.Thr583=) | not provided [RCV002166716] | likely benign | 6 | 3113072 | 3113072 | Human | | name |
| 152114033 | CV1639617 | single nucleotide variant | NM_001354930.2(RIPK1):c.1503T>C (p.His501=) | not provided [RCV002197160] | likely benign | 6 | 3105978 | 3105978 | Human | | name |
| 152112600 | CV1640622 | single nucleotide variant | NM_001354930.2(RIPK1):c.1404A>G (p.Leu468=) | not provided [RCV002174522] | likely benign | 6 | 3105879 | 3105879 | Human | | name |
| 152133714 | CV1652012 | single nucleotide variant | NM_001354930.2(RIPK1):c.1278C>T (p.Tyr426=) | not provided [RCV002199664] | likely benign | 6 | 3105753 | 3105753 | Human | | name |
| 152052511 | CV1659101 | single nucleotide variant | NM_001354930.2(RIPK1):c.1302A>G (p.Gly434=) | not provided [RCV002189586] | likely benign | 6 | 3105777 | 3105777 | Human | | name |
| 156373638 | CV1901932 | single nucleotide variant | NM_001354930.2(RIPK1):c.155A>G (p.Asn52Ser) | Inborn genetic diseases [RCV003161780]|not provided [RCV003092675] | uncertain significance | 6 | 3076978 | 3076978 | Human | 1 | name |
| 156440647 | CV1943779 | single nucleotide variant | NM_001354930.2(RIPK1):c.1407T>C (p.Tyr469=) | not provided [RCV003110683] | likely benign | 6 | 3105882 | 3105882 | Human | | name |
| 156449020 | CV1944273 | single nucleotide variant | NM_001354930.2(RIPK1):c.293G>A (p.Gly98Asp) | RIPK1-related disorder [RCV004747264]|not provided [RCV003121129] | uncertain significance | 6 | 3077907 | 3077907 | Human | 1 | name , trait , alternate_id |
| 156229359 | CV1955924 | single nucleotide variant | NM_001354930.2(RIPK1):c.1140C>T (p.Asp380=) | not provided [RCV002575813] | likely benign | 6 | 3105615 | 3105615 | Human | | name |
| 156304901 | CV1999774 | single nucleotide variant | NM_001354930.2(RIPK1):c.252G>T (p.Glu84Asp) | not provided [RCV002671334] | uncertain significance | 6 | 3077866 | 3077866 | Human | | name |
| 156049927 | CV2006676 | deletion | NM_001354930.2(RIPK1):c.388del (p.His130fs) | not provided [RCV002659331] | pathogenic | 6 | 3081045 | 3081045 | Human | | name |
| 156371895 | CV2007842 | single nucleotide variant | NM_001354930.2(RIPK1):c.1827G>A (p.Gln609=) | not provided [RCV002676969] | likely benign | 6 | 3113150 | 3113150 | Human | | name |
| 156221009 | CV2037689 | single nucleotide variant | NM_001354930.2(RIPK1):c.1185G>A (p.Thr395=) | not provided [RCV002790626] | likely benign | 6 | 3105660 | 3105660 | Human | | name |
| 156010583 | CV2039168 | single nucleotide variant | NM_001354930.2(RIPK1):c.1239C>T (p.Arg413=) | not provided [RCV002795079] | likely benign | 6 | 3105714 | 3105714 | Human | | name |
| 156108846 | CV2085673 | single nucleotide variant | NM_001354930.2(RIPK1):c.1992C>T (p.Ser664=) | not provided [RCV002848367] | likely benign | 6 | 3113315 | 3113315 | Human | | name |
| 156256850 | CV2102460 | single nucleotide variant | NM_001354930.2(RIPK1):c.1350C>T (p.His450=) | not provided [RCV002895442] | likely benign | 6 | 3105825 | 3105825 | Human | | name |
| 155998084 | CV2168854 | single nucleotide variant | NM_001354930.2(RIPK1):c.1008C>T (p.Ala336=) | not provided [RCV003017145] | uncertain significance | 6 | 3105483 | 3105483 | Human | | name |
| 156165224 | CV2169565 | single nucleotide variant | NM_001354930.2(RIPK1):c.161T>C (p.Ile54Thr) | not provided [RCV003023340] | uncertain significance | 6 | 3076984 | 3076984 | Human | | name |
| 156279928 | CV2186782 | single nucleotide variant | NM_001354930.2(RIPK1):c.1614C>A (p.Gly538=) | not provided [RCV003044746] | likely benign | 6 | 3110840 | 3110840 | Human | | name |
| 156237557 | CV2235692 | single nucleotide variant | NM_001354930.2(RIPK1):c.231G>T (p.Lys77Asn) | Inborn genetic diseases [RCV002768054]|not provided [RCV005059259] | uncertain significance | 6 | 3077845 | 3077845 | Human | 1 | name |
| 401761116 | CV2726646 | single nucleotide variant | NM_001354930.2(RIPK1):c.292G>A (p.Gly98Ser) | Inborn genetic diseases [RCV003299741] | uncertain significance | 6 | 3077906 | 3077906 | Human | 1 | name |
| 402515922 | CV2856717 | single nucleotide variant | NM_001354930.2(RIPK1):c.208C>G (p.Leu70Val) | not provided [RCV003575487] | uncertain significance | 6 | 3077822 | 3077822 | Human | | name |
| 402488056 | CV2861849 | single nucleotide variant | NM_001354930.2(RIPK1):c.1945C>T (p.Leu649=) | not provided [RCV003544678] | likely benign | 6 | 3113268 | 3113268 | Human | | name |
| 405082392 | CV2864936 | single nucleotide variant | NM_001354930.2(RIPK1):c.130A>C (p.Met44Leu) | not provided [RCV003549330] | uncertain significance | 6 | 3076953 | 3076953 | Human | | name |
| 405110212 | CV2898942 | single nucleotide variant | NM_001354930.2(RIPK1):c.1498C>T (p.Leu500=) | not provided [RCV003557770] | likely benign | 6 | 3105973 | 3105973 | Human | | name |
| 405161542 | CV2899291 | single nucleotide variant | NM_001354930.2(RIPK1):c.201G>T (p.Met67Ile) | not provided [RCV003562356] | uncertain significance | 6 | 3077815 | 3077815 | Human | | name |
| 405241366 | CV2970739 | single nucleotide variant | NM_001354930.2(RIPK1):c.1482A>C (p.Pro494=) | not provided [RCV003684109] | likely benign | 6 | 3105957 | 3105957 | Human | | name |
| 405188308 | CV2977833 | single nucleotide variant | NM_001354930.2(RIPK1):c.1818C>T (p.Gly606=) | not provided [RCV003706229] | likely benign | 6 | 3113141 | 3113141 | Human | | name |
| 405077361 | CV3008109 | single nucleotide variant | NM_001354930.2(RIPK1):c.226G>A (p.Val76Met) | not provided [RCV003716842] | uncertain significance | 6 | 3077840 | 3077840 | Human | | name |
| 405234104 | CV3032348 | single nucleotide variant | NM_001354930.2(RIPK1):c.1068G>A (p.Glu356=) | not provided [RCV003712005] | likely benign | 6 | 3105543 | 3105543 | Human | | name |
| 405217818 | CV3048938 | single nucleotide variant | NM_001354930.2(RIPK1):c.1956G>A (p.Ala652=) | not provided [RCV003732885] | likely benign | 6 | 3113279 | 3113279 | Human | | name |
| 405212377 | CV3063207 | single nucleotide variant | NM_001354930.2(RIPK1):c.1272A>G (p.Arg424=) | not provided [RCV003732190] | likely benign | 6 | 3105747 | 3105747 | Human | | name |
| 405214152 | CV3078392 | single nucleotide variant | NM_001354930.2(RIPK1):c.289A>G (p.Lys97Glu) | not provided [RCV003732413] | uncertain significance | 6 | 3077903 | 3077903 | Human | | name |
| 405175518 | CV3123109 | single nucleotide variant | NM_001354930.2(RIPK1):c.1686G>A (p.Thr562=) | not provided [RCV003819508] | likely benign | 6 | 3110912 | 3110912 | Human | | name |
| 405074038 | CV3145531 | single nucleotide variant | NM_001354930.2(RIPK1):c.1548C>T (p.Thr516=) | not provided [RCV003851116] | likely benign | 6 | 3106023 | 3106023 | Human | | name |
| 405067161 | CV3148941 | single nucleotide variant | NM_001354930.2(RIPK1):c.1341T>C (p.Asn447=) | not provided [RCV003850703] | likely benign | 6 | 3105816 | 3105816 | Human | | name |
| 405234232 | CV3155475 | single nucleotide variant | NM_001354930.2(RIPK1):c.1935G>T (p.Thr645=) | not provided [RCV003853453] | likely benign | 6 | 3113258 | 3113258 | Human | | name |
| 405703182 | CV3224529 | single nucleotide variant | NM_001354930.2(RIPK1):c.175G>C (p.Ala59Pro) | Autoinflammation with episodic fever and lymphadenopathy [RCV003989917] | likely benign | 6 | 3077789 | 3077789 | Human | 1 | name , alternate_id |
| 405737577 | CV3319868 | single nucleotide variant | NM_001354930.2(RIPK1):c.140T>C (p.Val47Ala) | Inborn genetic diseases [RCV004451879] | uncertain significance | 6 | 3076963 | 3076963 | Human | 1 | name |
| 597718474 | CV3583679 | single nucleotide variant | NM_001354930.2(RIPK1):c.139G>A (p.Val47Met) | Inborn genetic diseases [RCV004960141] | uncertain significance | 6 | 3076962 | 3076962 | Human | 1 | name |
| 597718482 | CV3593623 | single nucleotide variant | NM_001354930.2(RIPK1):c.288G>C (p.Glu96Asp) | Inborn genetic diseases [RCV004960142] | uncertain significance | 6 | 3077902 | 3077902 | Human | 1 | name |
| 597718492 | CV3593624 | single nucleotide variant | NM_001354930.2(RIPK1):c.204C>G (p.Asn68Lys) | Inborn genetic diseases [RCV004960143] | uncertain significance | 6 | 3077818 | 3077818 | Human | 1 | name |
| 597871149 | CV3749880 | single nucleotide variant | NM_001354930.2(RIPK1):c.1027C>T (p.Leu343=) | not provided [RCV005068561] | likely benign | 6 | 3105502 | 3105502 | Human | | name |
| 597873928 | CV3766096 | single nucleotide variant | NM_001354930.2(RIPK1):c.1107G>A (p.Glu369=) | not provided [RCV005108228] | likely benign | 6 | 3105582 | 3105582 | Human | | name |
| 597850310 | CV3803220 | single nucleotide variant | NM_001354930.2(RIPK1):c.1527C>T (p.Asn509=) | not provided [RCV005145337] | likely benign | 6 | 3106002 | 3106002 | Human | | name |
| 597938813 | CV3808320 | single nucleotide variant | NM_001354930.2(RIPK1):c.248T>C (p.Ile83Thr) | not provided [RCV005158508] | uncertain significance | 6 | 3077862 | 3077862 | Human | | name |
| 597944705 | CV3812580 | single nucleotide variant | NM_001354930.2(RIPK1):c.244A>G (p.Ile82Val) | not provided [RCV005159790] | uncertain significance | 6 | 3077858 | 3077858 | Human | | name |
| 597927769 | CV3816018 | single nucleotide variant | NM_001354930.2(RIPK1):c.1896C>G (p.Leu632=) | not provided [RCV005156599] | likely benign | 6 | 3113219 | 3113219 | Human | | name |
| 597974191 | CV3821143 | single nucleotide variant | NM_001354930.2(RIPK1):c.1593T>C (p.Tyr531=) | not provided [RCV005168464] | likely benign | 6 | 3110819 | 3110819 | Human | | name |
| 597976082 | CV3829082 | single nucleotide variant | NM_001354930.2(RIPK1):c.189G>C (p.Glu63Asp) | not provided [RCV005169531] | uncertain significance | 6 | 3077803 | 3077803 | Human | | name |
| 597890225 | CV3839713 | single nucleotide variant | NM_001354930.2(RIPK1):c.1890G>A (p.Gln630=) | not provided [RCV005179605] | likely benign | 6 | 3113213 | 3113213 | Human | | name |
| 597913405 | CV3850959 | single nucleotide variant | NM_001354930.2(RIPK1):c.1524C>T (p.Thr508=) | not provided [RCV005203927] | likely benign | 6 | 3105999 | 3105999 | Human | | name |
| 597907755 | CV3853617 | single nucleotide variant | NM_001354930.2(RIPK1):c.1482A>G (p.Pro494=) | not provided [RCV005203097] | likely benign | 6 | 3105957 | 3105957 | Human | | name |
| 597916134 | CV3860957 | single nucleotide variant | NM_001354930.2(RIPK1):c.107A>G (p.His36Arg) | not provided [RCV005204320] | uncertain significance | 6 | 3076930 | 3076930 | Human | | name |
| 14352088 | CV589847 | deletion | NM_001354930.2(RIPK1):c.954del (p.Met318fs) | IL10-related early-onset inflammatory bowel disease [RCV000754605]|Immunodeficiency 57 [RCV000985125] | pathogenic|likely pathogenic | 6 | 3104263 | 3104263 | Human | 1 | name |
| 15174945 | CV721941 | single nucleotide variant | NM_001354930.2(RIPK1):c.1935G>A (p.Thr645=) | Immunodeficiency 57 [RCV002479005]|RIPK1-related disorder [RCV003920607]|not provided [RCV000884247]|not specified [RCV005236391] | benign|likely benign | 6 | 3113258 | 3113258 | Human | 2 | name , trait , alternate_id |
| 21069188 | CV795812 | single nucleotide variant | NM_001354930.2(RIPK1):c.127A>T (p.Ile43Phe) | not provided [RCV000998510] | uncertain significance | 6 | 3076950 | 3076950 | Human | | name |
| 126747275 | CV1016702 | single nucleotide variant | NM_001354930.2(RIPK1):c.464C>G (p.Ala155Gly) | Immunodeficiency 57 [RCV001331111] | uncertain significance | 6 | 3083089 | 3083089 | Human | 1 | name |
| 126747277 | CV1016709 | single nucleotide variant | NM_001354930.2(RIPK1):c.931G>A (p.Glu311Lys) | Immunodeficiency 57 [RCV001331112]|Inborn genetic diseases [RCV002546444]|not provided [RCV001859281] | conflicting interpretations of pathogenicity|uncertain significance | 6 | 3104240 | 3104240 | Human | 2 | name |
| 127292420 | CV1155318 | single nucleotide variant | NM_001354930.2(RIPK1):c.700G>A (p.Glu234Lys) | RIPK1-related disorder [RCV003948495]|not provided [RCV001510838] | benign | 6 | 3085270 | 3085270 | Human | 1 | name , trait , alternate_id |
| 150529319 | CV1288876 | single nucleotide variant | NM_001354930.2(RIPK1):c.815C>T (p.Pro272Leu) | not provided [RCV001727344] | uncertain significance | 6 | 3085385 | 3085385 | Human | | name |
| 151793860 | CV1337366 | single nucleotide variant | NM_001354930.2(RIPK1):c.659C>T (p.Ala220Val) | not provided [RCV001917082] | uncertain significance | 6 | 3083284 | 3083284 | Human | | name |
| 151807008 | CV1340331 | single nucleotide variant | NM_001354930.2(RIPK1):c.368T>C (p.Ile123Thr) | Immunodeficiency 57 [RCV002478173]|not provided [RCV001867645] | uncertain significance | 6 | 3081025 | 3081025 | Human | 1 | name , alternate_id |
| 151785260 | CV1342671 | single nucleotide variant | NM_001354930.2(RIPK1):c.772A>G (p.Arg258Gly) | Inborn genetic diseases [RCV005266083]|not provided [RCV002010118] | uncertain significance | 6 | 3085342 | 3085342 | Human | 1 | name |
| 151890917 | CV1346817 | single nucleotide variant | NM_001354930.2(RIPK1):c.901G>A (p.Val301Met) | RIPK1-related disorder [RCV003403663]|not provided [RCV002038942] | uncertain significance | 6 | 3089643 | 3089643 | Human | 1 | name , trait , alternate_id |
| 151878199 | CV1350274 | single nucleotide variant | NM_001354930.2(RIPK1):c.995G>A (p.Arg332Gln) | Inborn genetic diseases [RCV002549032]|not provided [RCV002036513] | uncertain significance | 6 | 3104304 | 3104304 | Human | 1 | name |
| 151767512 | CV1366539 | single nucleotide variant | NM_001354930.2(RIPK1):c.472G>A (p.Gly158Ser) | Inborn genetic diseases [RCV003167291]|not provided [RCV001949834] | uncertain significance | 6 | 3083097 | 3083097 | Human | 1 | name |
| 151874033 | CV1382337 | single nucleotide variant | NM_001354930.2(RIPK1):c.555G>C (p.Lys185Asn) | not provided [RCV002019312] | uncertain significance | 6 | 3083180 | 3083180 | Human | | name |
| 151837029 | CV1382566 | single nucleotide variant | NM_001354930.2(RIPK1):c.478G>A (p.Ala160Thr) | Inborn genetic diseases [RCV002549051]|not provided [RCV002031397] | uncertain significance | 6 | 3083103 | 3083103 | Human | 1 | name |
| 151754855 | CV1391449 | single nucleotide variant | NM_001354930.2(RIPK1):c.977T>A (p.Val326Glu) | not provided [RCV001969567] | uncertain significance | 6 | 3104286 | 3104286 | Human | | name |
| 151771990 | CV1410976 | single nucleotide variant | NM_001354930.2(RIPK1):c.386T>C (p.Leu129Ser) | not provided [RCV001971273] | uncertain significance | 6 | 3081043 | 3081043 | Human | | name |
| 151804731 | CV1429764 | single nucleotide variant | NM_001354930.2(RIPK1):c.562G>T (p.Gly188Cys) | not provided [RCV001974231] | uncertain significance | 6 | 3083187 | 3083187 | Human | | name |
| 151727452 | CV1430118 | single nucleotide variant | NM_001354930.2(RIPK1):c.827C>T (p.Pro276Leu) | not provided [RCV002004437] | uncertain significance | 6 | 3085397 | 3085397 | Human | | name |
| 151742156 | CV1431585 | single nucleotide variant | NM_001354930.2(RIPK1):c.562G>A (p.Gly188Ser) | not provided [RCV001926569] | uncertain significance | 6 | 3083187 | 3083187 | Human | | name |
| 151881061 | CV1437283 | single nucleotide variant | NM_001354930.2(RIPK1):c.974G>A (p.Cys325Tyr) | not provided [RCV001999580] | uncertain significance | 6 | 3104283 | 3104283 | Human | | name |
| 151815760 | CV1440869 | single nucleotide variant | NM_001354930.2(RIPK1):c.332C>T (p.Pro111Leu) | not provided [RCV001933656]|not specified [RCV005419271] | uncertain significance | 6 | 3080989 | 3080989 | Human | | name |
| 151803547 | CV1442530 | single nucleotide variant | NM_001354930.2(RIPK1):c.491T>C (p.Met164Thr) | not provided [RCV002011787] | uncertain significance | 6 | 3083116 | 3083116 | Human | | name |
| 151866956 | CV1446501 | single nucleotide variant | NM_001354930.2(RIPK1):c.658G>A (p.Ala220Thr) | not provided [RCV001980831] | uncertain significance | 6 | 3083283 | 3083283 | Human | | name |
| 151884463 | CV1452658 | single nucleotide variant | NM_001354930.2(RIPK1):c.657G>C (p.Trp219Cys) | not provided [RCV002037556] | uncertain significance | 6 | 3083282 | 3083282 | Human | | name |
| 151806750 | CV1453496 | single nucleotide variant | NM_001354930.2(RIPK1):c.498C>G (p.Ser166Arg) | Inborn genetic diseases [RCV004953239]|not provided [RCV001877874] | uncertain significance | 6 | 3083123 | 3083123 | Human | 1 | name |
| 151752443 | CV1455482 | single nucleotide variant | NM_001354930.2(RIPK1):c.839G>A (p.Gly280Asp) | not provided [RCV002043421] | uncertain significance | 6 | 3089581 | 3089581 | Human | | name |
| 151866784 | CV1468788 | single nucleotide variant | NM_001354930.2(RIPK1):c.310C>G (p.Leu104Val) | not provided [RCV002018444] | uncertain significance | 6 | 3077924 | 3077924 | Human | | name |
| 151852167 | CV1476108 | single nucleotide variant | NM_001354930.2(RIPK1):c.462C>G (p.Ile154Met) | not provided [RCV001996105] | uncertain significance | 6 | 3083087 | 3083087 | Human | | name |
| 151756674 | CV1496983 | single nucleotide variant | NM_001354930.2(RIPK1):c.607G>T (p.Ala203Ser) | Autoinflammation with episodic fever and lymphadenopathy [RCV002293257]|Inborn genetic diseases [RCV002557623]|not provided [RCV001913516] | conflicting interpretations of pathogenicity|uncertain significance | 6 | 3083232 | 3083232 | Human | 2 | name , alternate_id |
| 151762690 | CV1499224 | single nucleotide variant | NM_001354930.2(RIPK1):c.676G>A (p.Glu226Lys) | not provided [RCV001863287] | uncertain significance | 6 | 3083301 | 3083301 | Human | | name |
| 151881468 | CV1499919 | single nucleotide variant | NM_001354930.2(RIPK1):c.389A>C (p.His130Pro) | not provided [RCV001886545] | uncertain significance | 6 | 3081046 | 3081046 | Human | | name |
| 151799466 | CV1509346 | single nucleotide variant | NM_001354930.2(RIPK1):c.463G>A (p.Ala155Thr) | not provided [RCV001866997] | uncertain significance | 6 | 3083088 | 3083088 | Human | | name |
| 151790302 | CV1515341 | single nucleotide variant | NM_001354930.2(RIPK1):c.839G>T (p.Gly280Val) | not provided [RCV002027158] | uncertain significance | 6 | 3089581 | 3089581 | Human | | name |
| 155726601 | CV1773684 | single nucleotide variant | NM_001354930.2(RIPK1):c.658G>C (p.Ala220Pro) | not provided [RCV002301472] | uncertain significance | 6 | 3083283 | 3083283 | Human | | name |
| 155690318 | CV1775146 | single nucleotide variant | NM_001354930.2(RIPK1):c.578T>C (p.Met193Thr) | not provided [RCV002294854] | uncertain significance | 6 | 3083203 | 3083203 | Human | | name |
| 156390915 | CV1869919 | single nucleotide variant | NM_001354930.2(RIPK1):c.544A>G (p.Thr182Ala) | Inborn genetic diseases [RCV004070308]|not provided [RCV003068008] | uncertain significance | 6 | 3083169 | 3083169 | Human | 1 | name |
| 156256558 | CV1875326 | single nucleotide variant | NM_001354930.2(RIPK1):c.842T>C (p.Ile281Thr) | Inborn genetic diseases [RCV004070232]|not provided [RCV003060211] | uncertain significance | 6 | 3089584 | 3089584 | Human | 1 | name |
| 156207193 | CV1913266 | single nucleotide variant | NM_001354930.2(RIPK1):c.901G>T (p.Val301Leu) | not provided [RCV002595928] | uncertain significance | 6 | 3089643 | 3089643 | Human | | name |
| 156403087 | CV1988921 | single nucleotide variant | NM_001354930.2(RIPK1):c.911T>C (p.Leu304Ser) | not provided [RCV002605832] | uncertain significance | 6 | 3089653 | 3089653 | Human | | name |
| 156229024 | CV1991715 | single nucleotide variant | NM_001354930.2(RIPK1):c.319G>A (p.Glu107Lys) | not provided [RCV002626725] | uncertain significance | 6 | 3077933 | 3077933 | Human | | name |
| 156123376 | CV2012203 | single nucleotide variant | NM_001354930.2(RIPK1):c.908G>A (p.Ser303Asn) | not provided [RCV002696125] | uncertain significance | 6 | 3089650 | 3089650 | Human | | name |
| 156192409 | CV2017795 | single nucleotide variant | NM_001354930.2(RIPK1):c.421C>G (p.Pro141Ala) | not provided [RCV002700003] | uncertain significance | 6 | 3081078 | 3081078 | Human | | name |
| 156316734 | CV2018045 | single nucleotide variant | NM_001354930.2(RIPK1):c.319G>C (p.Glu107Gln) | not provided [RCV002671944] | uncertain significance | 6 | 3077933 | 3077933 | Human | | name |
| 156048878 | CV2027176 | single nucleotide variant | NM_001354930.2(RIPK1):c.340G>A (p.Val114Ile) | not provided [RCV002736444] | uncertain significance | 6 | 3080997 | 3080997 | Human | | name |
| 156316652 | CV2028093 | single nucleotide variant | NM_001354930.2(RIPK1):c.716T>A (p.Met239Lys) | not provided [RCV002716838] | uncertain significance | 6 | 3085286 | 3085286 | Human | | name |
| 155911562 | CV2029330 | single nucleotide variant | NM_001354930.2(RIPK1):c.833T>A (p.Phe278Tyr) | not provided [RCV002750181] | uncertain significance | 6 | 3085403 | 3085403 | Human | | name |
| 155965577 | CV2034217 | single nucleotide variant | NM_001354930.2(RIPK1):c.412G>T (p.Asp138Tyr) | Inborn genetic diseases [RCV002731377]|not provided [RCV002731378] | uncertain significance | 6 | 3081069 | 3081069 | Human | 1 | name |
| 156005406 | CV2041902 | single nucleotide variant | NM_001354930.2(RIPK1):c.993C>A (p.Ser331Arg) | not provided [RCV002756405] | uncertain significance | 6 | 3104302 | 3104302 | Human | | name |
| 156370943 | CV2048795 | single nucleotide variant | NM_001354930.2(RIPK1):c.853T>C (p.Phe285Leu) | not provided [RCV002814277] | uncertain significance | 6 | 3089595 | 3089595 | Human | | name |
| 156326368 | CV2108593 | single nucleotide variant | NM_001354930.2(RIPK1):c.400G>A (p.Val134Met) | not provided [RCV002938106] | uncertain significance | 6 | 3081057 | 3081057 | Human | | name |
| 156144839 | CV2122680 | single nucleotide variant | NM_001354930.2(RIPK1):c.962T>G (p.Leu321Arg) | not provided [RCV002954360] | uncertain significance | 6 | 3104271 | 3104271 | Human | | name |
| 156376275 | CV2124145 | single nucleotide variant | NM_001354930.2(RIPK1):c.430A>G (p.Ile144Val) | not provided [RCV002942742] | uncertain significance | 6 | 3081087 | 3081087 | Human | | name |
| 155962209 | CV2131953 | single nucleotide variant | NM_001354930.2(RIPK1):c.577A>T (p.Met193Leu) | not provided [RCV002995212] | uncertain significance | 6 | 3083202 | 3083202 | Human | | name |
| 155977080 | CV2151276 | single nucleotide variant | NM_001354930.2(RIPK1):c.326G>A (p.Ser109Asn) | not provided [RCV003033701] | uncertain significance | 6 | 3080983 | 3080983 | Human | | name |
| 156150650 | CV2154419 | single nucleotide variant | NM_001354930.2(RIPK1):c.544A>T (p.Thr182Ser) | not provided [RCV003022839] | uncertain significance | 6 | 3083169 | 3083169 | Human | | name |
| 156261072 | CV2181727 | single nucleotide variant | NM_001354930.2(RIPK1):c.974G>T (p.Cys325Phe) | not provided [RCV003044119] | uncertain significance | 6 | 3104283 | 3104283 | Human | | name |
| 155978734 | CV2222740 | single nucleotide variant | NM_001354930.2(RIPK1):c.827C>G (p.Pro276Arg) | Inborn genetic diseases [RCV002732271] | uncertain significance | 6 | 3085397 | 3085397 | Human | 1 | name |
| 156360575 | CV2269065 | single nucleotide variant | NM_001354930.2(RIPK1):c.580G>A (p.Ala194Thr) | Inborn genetic diseases [RCV002812757]|not provided [RCV003229940] | uncertain significance | 6 | 3083205 | 3083205 | Human | 1 | name |
| 156299897 | CV2306899 | single nucleotide variant | NM_001354930.2(RIPK1):c.721A>G (p.Ile241Val) | Inborn genetic diseases [RCV002897848] | uncertain significance | 6 | 3085291 | 3085291 | Human | 1 | name |
| 401758131 | CV2704189 | single nucleotide variant | NM_001354930.2(RIPK1):c.605A>G (p.Asn202Ser) | Inborn genetic diseases [RCV003256287] | uncertain significance | 6 | 3083230 | 3083230 | Human | 1 | name |
| 401757983 | CV2708066 | single nucleotide variant | NM_001354930.2(RIPK1):c.748G>C (p.Asp250His) | Inborn genetic diseases [RCV003256236] | uncertain significance | 6 | 3085318 | 3085318 | Human | 1 | name |
| 401887506 | CV2771979 | single nucleotide variant | NM_001354930.2(RIPK1):c.854T>A (p.Phe285Tyr) | Inborn genetic diseases [RCV003352424] | uncertain significance | 6 | 3089596 | 3089596 | Human | 1 | name |
| 401915649 | CV2822654 | deletion | NM_001354930.2(RIPK1):c.915+1166_915+1196del | not provided [RCV003428751] | likely benign | 6 | 3090796 | 3090826 | Human | | name |
| 401918220 | CV2822655 | single nucleotide variant | NM_001354930.2(RIPK1):c.994C>T (p.Arg332Trp) | not provided [RCV003430077] | uncertain significance | 6 | 3104303 | 3104303 | Human | | name |
| 405212669 | CV2878708 | single nucleotide variant | NM_001354930.2(RIPK1):c.488A>T (p.Lys163Met) | not provided [RCV003552796] | uncertain significance | 6 | 3083113 | 3083113 | Human | | name |
| 405161110 | CV2899308 | single nucleotide variant | NM_001354930.2(RIPK1):c.607G>A (p.Ala203Thr) | not provided [RCV003562368] | uncertain significance | 6 | 3083232 | 3083232 | Human | | name |
| 405069296 | CV2944744 | single nucleotide variant | NM_001354930.2(RIPK1):c.973T>C (p.Cys325Arg) | not provided [RCV003663885] | uncertain significance | 6 | 3104282 | 3104282 | Human | | name |
| 405082618 | CV2946294 | single nucleotide variant | NM_001354930.2(RIPK1):c.419A>T (p.Lys140Met) | not provided [RCV003664727] | uncertain significance | 6 | 3081076 | 3081076 | Human | | name |
| 404982126 | CV2982718 | single nucleotide variant | NM_001354930.2(RIPK1):c.392G>A (p.Gly131Glu) | not provided [RCV003691377] | uncertain significance | 6 | 3081049 | 3081049 | Human | | name |
| 405232843 | CV2985451 | single nucleotide variant | NM_001354930.2(RIPK1):c.929A>G (p.Asn310Ser) | not provided [RCV003711804] | uncertain significance | 6 | 3104238 | 3104238 | Human | | name |
| 405011996 | CV2990311 | single nucleotide variant | NM_001354930.2(RIPK1):c.764A>G (p.Tyr255Cys) | not provided [RCV003694064] | uncertain significance | 6 | 3085334 | 3085334 | Human | | name |
| 405177081 | CV3020021 | single nucleotide variant | NM_001354930.2(RIPK1):c.707A>C (p.Gln236Pro) | not provided [RCV003705189] | uncertain significance | 6 | 3085277 | 3085277 | Human | | name |
| 405149475 | CV3024259 | single nucleotide variant | NM_001354930.2(RIPK1):c.824G>A (p.Arg275Gln) | not provided [RCV003703129] | uncertain significance | 6 | 3085394 | 3085394 | Human | | name |
| 405088154 | CV3024871 | duplication | NM_001354930.2(RIPK1):c.1542dup (p.Pro515fs) | not provided [RCV003699477] | pathogenic | 6 | 3106016 | 3106017 | Human | | name |
| 405209724 | CV3037347 | single nucleotide variant | NM_001354930.2(RIPK1):c.796C>G (p.Leu266Val) | not provided [RCV003708416] | uncertain significance | 6 | 3085366 | 3085366 | Human | | name |
| 405090937 | CV3044612 | single nucleotide variant | NM_001354930.2(RIPK1):c.396A>C (p.Lys132Asn) | not provided [RCV003717676] | uncertain significance | 6 | 3081053 | 3081053 | Human | | name |
| 405243410 | CV3053746 | single nucleotide variant | NM_001354930.2(RIPK1):c.908G>C (p.Ser303Thr) | not provided [RCV003719727] | uncertain significance | 6 | 3089650 | 3089650 | Human | | name |
| 405194319 | CV3066232 | single nucleotide variant | NM_001354930.2(RIPK1):c.317C>T (p.Ala106Val) | not provided [RCV003729907] | uncertain significance | 6 | 3077931 | 3077931 | Human | | name |
| 405231494 | CV3070553 | single nucleotide variant | NM_001354930.2(RIPK1):c.541G>A (p.Gly181Ser) | not provided [RCV003734922] | uncertain significance | 6 | 3083166 | 3083166 | Human | | name |
| 404986854 | CV3135489 | single nucleotide variant | NM_001354930.2(RIPK1):c.695T>C (p.Ile232Thr) | not provided [RCV003826784] | uncertain significance | 6 | 3085265 | 3085265 | Human | | name |
| 405165663 | CV3160520 | single nucleotide variant | NM_001354930.2(RIPK1):c.410A>G (p.Lys137Arg) | not provided [RCV003857400] | uncertain significance | 6 | 3081067 | 3081067 | Human | | name |
| 405238384 | CV3169625 | single nucleotide variant | NM_001354930.2(RIPK1):c.679C>A (p.Pro227Thr) | not provided [RCV003866713] | uncertain significance | 6 | 3083304 | 3083304 | Human | | name |
| 402469992 | CV3171037 | single nucleotide variant | NM_001354930.2(RIPK1):c.760G>C (p.Glu254Gln) | not provided [RCV003874000] | uncertain significance | 6 | 3085330 | 3085330 | Human | | name |
| 405737590 | CV3319870 | single nucleotide variant | NM_001354930.2(RIPK1):c.892G>A (p.Glu298Lys) | Inborn genetic diseases [RCV004451881] | uncertain significance | 6 | 3089634 | 3089634 | Human | 1 | name |
| 405737597 | CV3319871 | single nucleotide variant | NM_001354930.2(RIPK1):c.898G>A (p.Asp300Asn) | Inborn genetic diseases [RCV004451882] | uncertain significance | 6 | 3089640 | 3089640 | Human | 1 | name |
| 597718465 | CV3583678 | single nucleotide variant | NM_001354930.2(RIPK1):c.538G>C (p.Asp180His) | Inborn genetic diseases [RCV004960140] | uncertain significance | 6 | 3083163 | 3083163 | Human | 1 | name |
| 597838548 | CV3736916 | single nucleotide variant | NM_001354930.2(RIPK1):c.809C>T (p.Ala270Val) | not provided [RCV005064396] | uncertain significance | 6 | 3085379 | 3085379 | Human | | name |
| 597907916 | CV3738958 | single nucleotide variant | NM_001354930.2(RIPK1):c.601G>A (p.Val201Ile) | not provided [RCV005073193] | uncertain significance | 6 | 3083226 | 3083226 | Human | | name |
| 597876378 | CV3747855 | single nucleotide variant | NM_001354930.2(RIPK1):c.823C>T (p.Arg275Trp) | not provided [RCV005069346] | uncertain significance | 6 | 3085393 | 3085393 | Human | | name |
| 597843800 | CV3752999 | single nucleotide variant | NM_001354930.2(RIPK1):c.445G>A (p.Asp149Asn) | not provided [RCV005086728] | uncertain significance | 6 | 3081102 | 3081102 | Human | | name |
| 597952789 | CV3756919 | single nucleotide variant | NM_001354930.2(RIPK1):c.775G>T (p.Glu259Ter) | not provided [RCV005079780] | pathogenic | 6 | 3085345 | 3085345 | Human | | name |
| 597874840 | CV3766225 | single nucleotide variant | NM_001354930.2(RIPK1):c.901G>C (p.Val301Leu) | not provided [RCV005108357] | uncertain significance | 6 | 3089643 | 3089643 | Human | | name |
| 597855221 | CV3821775 | single nucleotide variant | NM_001354930.2(RIPK1):c.496A>G (p.Ser166Gly) | not provided [RCV005174253] | uncertain significance | 6 | 3083121 | 3083121 | Human | | name |
| 597952752 | CV3843827 | single nucleotide variant | NM_001354930.2(RIPK1):c.617C>T (p.Thr206Ile) | not provided [RCV005190689] | uncertain significance | 6 | 3083242 | 3083242 | Human | | name |
| 597863927 | CV3860796 | single nucleotide variant | NM_001354930.2(RIPK1):c.975T>G (p.Cys325Trp) | not provided [RCV005196324] | uncertain significance | 6 | 3104284 | 3104284 | Human | | name |
| 597937624 | CV3862739 | single nucleotide variant | NM_001354930.2(RIPK1):c.391G>A (p.Gly131Arg) | not provided [RCV005208011] | uncertain significance | 6 | 3081048 | 3081048 | Human | | name |
| 598176730 | CV4008178 | single nucleotide variant | NM_001354930.2(RIPK1):c.665T>C (p.Phe222Ser) | Immunodeficiency 57 [RCV005393694] | uncertain significance | 6 | 3083290 | 3083290 | Human | 1 | name , alternate_id |
| 26903162 | CV858390 | single nucleotide variant | NM_001354930.2(RIPK1):c.970G>A (p.Asp324Asn) | Autoinflammation with episodic fever and lymphadenopathy [RCV001089772]|not provided [RCV005056870] | pathogenic | 6 | 3104279 | 3104279 | Human | 1 | name , alternate_id |
| 26903165 | CV858391 | single nucleotide variant | NM_001354930.2(RIPK1):c.970G>C (p.Asp324His) | Autoinflammation with episodic fever and lymphadenopathy [RCV001089773]|not provided [RCV005056871] | pathogenic | 6 | 3104279 | 3104279 | Human | 1 | name , alternate_id |
| 26903166 | CV858392 | single nucleotide variant | NM_001354930.2(RIPK1):c.970G>T (p.Asp324Tyr) | Autoinflammation with episodic fever and lymphadenopathy [RCV001089774] | pathogenic | 6 | 3104279 | 3104279 | Human | 1 | name , alternate_id |
| 26903167 | CV858393 | single nucleotide variant | NM_001354930.2(RIPK1):c.971A>T (p.Asp324Val) | Autoinflammation with episodic fever and lymphadenopathy [RCV001089775] | pathogenic | 6 | 3104280 | 3104280 | Human | 1 | name , alternate_id |
| 126766313 | CV991426 | single nucleotide variant | NM_001354930.2(RIPK1):c.521A>C (p.Asn174Thr) | not provided [RCV001301835] | uncertain significance | 6 | 3083146 | 3083146 | Human | | name |
| 126747264 | CV1016710 | single nucleotide variant | NM_001354930.2(RIPK1):c.1194G>C (p.Gln398His) | Immunodeficiency 57 [RCV001331109]|not provided [RCV002070167] | likely benign|uncertain significance | 6 | 3105669 | 3105669 | Human | 1 | name |
| 126742819 | CV1020228 | single nucleotide variant | NM_001354930.2(RIPK1):c.1862G>A (p.Arg621Gln) | Immunodeficiency 57 [RCV001336606]|Inborn genetic diseases [RCV003355404]|not provided [RCV003669235] | uncertain significance | 6 | 3113185 | 3113185 | Human | 2 | name |
| 126911357 | CV1044052 | single nucleotide variant | NM_001354930.2(RIPK1):c.1456C>T (p.Pro486Ser) | Inborn genetic diseases [RCV002548616]|not provided [RCV001369175] | uncertain significance | 6 | 3105931 | 3105931 | Human | 1 | name |
| 150547986 | CV1303953 | single nucleotide variant | NM_001354930.2(RIPK1):c.1757A>T (p.His586Leu) | not provided [RCV001764056] | uncertain significance | 6 | 3113080 | 3113080 | Human | | name |
| 151811831 | CV1359526 | single nucleotide variant | NM_001354930.2(RIPK1):c.1634A>C (p.Asn545Thr) | not provided [RCV001991906] | uncertain significance | 6 | 3110860 | 3110860 | Human | | name |
| 151790059 | CV1370319 | single nucleotide variant | NM_001354930.2(RIPK1):c.1200A>T (p.Arg400Ser) | not provided [RCV001972964] | uncertain significance | 6 | 3105675 | 3105675 | Human | | name |
| 151813177 | CV1373138 | single nucleotide variant | NM_001354930.2(RIPK1):c.1039C>A (p.Gln347Lys) | not provided [RCV001900152] | uncertain significance | 6 | 3105514 | 3105514 | Human | | name |
| 151824960 | CV1373362 | single nucleotide variant | NM_001354930.2(RIPK1):c.1184C>T (p.Thr395Met) | Inborn genetic diseases [RCV004039808]|not provided [RCV001934505] | likely benign|uncertain significance | 6 | 3105659 | 3105659 | Human | 1 | name |
| 151875616 | CV1376232 | single nucleotide variant | NM_001354930.2(RIPK1):c.1046T>C (p.Leu349Pro) | Inborn genetic diseases [RCV004956103]|not provided [RCV002019500] | likely benign|uncertain significance | 6 | 3105521 | 3105521 | Human | 1 | name |
| 151737168 | CV1380091 | single nucleotide variant | NM_001354930.2(RIPK1):c.1632C>G (p.Tyr544Ter) | not provided [RCV001946714] | pathogenic | 6 | 3110858 | 3110858 | Human | | name |
| 151717873 | CV1380653 | single nucleotide variant | NM_001354930.2(RIPK1):c.1031A>G (p.His344Arg) | not provided [RCV002003193] | uncertain significance | 6 | 3105506 | 3105506 | Human | | name |
| 151748049 | CV1382987 | single nucleotide variant | NM_001354930.2(RIPK1):c.1141G>A (p.Glu381Lys) | not provided [RCV001947830] | uncertain significance | 6 | 3105616 | 3105616 | Human | | name |
| 151715266 | CV1385239 | single nucleotide variant | NM_001354930.2(RIPK1):c.1249C>A (p.His417Asn) | not provided [RCV002002809] | uncertain significance | 6 | 3105724 | 3105724 | Human | | name |
| 151768693 | CV1387988 | single nucleotide variant | NM_001354930.2(RIPK1):c.1559G>C (p.Ser520Thr) | Inborn genetic diseases [RCV005271589]|not provided [RCV001970967] | likely benign|uncertain significance | 6 | 3106034 | 3106034 | Human | 1 | name |
| 151859928 | CV1389722 | single nucleotide variant | NM_001354930.2(RIPK1):c.1114C>T (p.Pro372Ser) | not provided [RCV001905146] | uncertain significance | 6 | 3105589 | 3105589 | Human | | name |
| 151711926 | CV1396692 | single nucleotide variant | NM_001354930.2(RIPK1):c.1547C>T (p.Thr516Ile) | not provided [RCV001889565] | uncertain significance | 6 | 3106022 | 3106022 | Human | | name |
| 151878978 | CV1398607 | single nucleotide variant | NM_001354930.2(RIPK1):c.1591T>C (p.Tyr531His) | not provided [RCV002019896] | uncertain significance | 6 | 3110817 | 3110817 | Human | | name |
| 151760306 | CV1403931 | single nucleotide variant | NM_001354930.2(RIPK1):c.1906G>A (p.Val636Met) | not provided [RCV002007780] | uncertain significance | 6 | 3113229 | 3113229 | Human | | name |
| 151879939 | CV1411196 | single nucleotide variant | NM_001354930.2(RIPK1):c.1276T>C (p.Tyr426His) | not provided [RCV002020006] | uncertain significance | 6 | 3105751 | 3105751 | Human | | name |
| 151833714 | CV1416675 | single nucleotide variant | NM_001354930.2(RIPK1):c.1541C>T (p.Thr514Ile) | Inborn genetic diseases [RCV002563560]|not provided [RCV002014559] | uncertain significance | 6 | 3106016 | 3106016 | Human | 1 | name |
| 151887477 | CV1426883 | single nucleotide variant | NM_001354930.2(RIPK1):c.1748C>T (p.Thr583Met) | Inborn genetic diseases [RCV004671618]|not provided [RCV002038198] | uncertain significance | 6 | 3113071 | 3113071 | Human | 1 | name |
| 151770302 | CV1429095 | single nucleotide variant | NM_001354930.2(RIPK1):c.1475C>G (p.Pro492Arg) | not provided [RCV001988173] | uncertain significance | 6 | 3105950 | 3105950 | Human | | name |
| 151794730 | CV1434331 | single nucleotide variant | NM_001354930.2(RIPK1):c.1210G>T (p.Ala404Ser) | not provided [RCV001866574] | uncertain significance | 6 | 3105685 | 3105685 | Human | | name |
| 151882508 | CV1443227 | single nucleotide variant | NM_001354930.2(RIPK1):c.1765C>G (p.Pro589Ala) | not provided [RCV002037153] | uncertain significance | 6 | 3113088 | 3113088 | Human | | name |
| 151825506 | CV1447060 | single nucleotide variant | NM_001354930.2(RIPK1):c.1496G>C (p.Ser499Thr) | not provided [RCV001870025] | uncertain significance | 6 | 3105971 | 3105971 | Human | | name |
| 151849709 | CV1451971 | single nucleotide variant | NM_001354930.2(RIPK1):c.1273C>T (p.Pro425Ser) | not provided [RCV002016408] | uncertain significance | 6 | 3105748 | 3105748 | Human | | name |
| 151751882 | CV1457375 | single nucleotide variant | NM_001354930.2(RIPK1):c.1174G>A (p.Asp392Asn) | not provided [RCV001913064] | uncertain significance | 6 | 3105649 | 3105649 | Human | | name |
| 151850747 | CV1461905 | single nucleotide variant | NM_001354930.2(RIPK1):c.1685C>T (p.Thr562Met) | not provided [RCV001978900] | uncertain significance | 6 | 3110911 | 3110911 | Human | | name |
| 151735090 | CV1465680 | single nucleotide variant | NM_001354930.2(RIPK1):c.1835T>C (p.Ile612Thr) | not provided [RCV002041618] | uncertain significance | 6 | 3113158 | 3113158 | Human | | name |
| 151855024 | CV1466230 | single nucleotide variant | NM_001354930.2(RIPK1):c.1043G>T (p.Gly348Val) | not provided [RCV001883229] | uncertain significance | 6 | 3105518 | 3105518 | Human | | name |
| 151742179 | CV1470218 | single nucleotide variant | NM_001354930.2(RIPK1):c.1406A>G (p.Tyr469Cys) | Inborn genetic diseases [RCV005271440]|not provided [RCV001871123] | uncertain significance | 6 | 3105881 | 3105881 | Human | 1 | name |
| 151780026 | CV1472492 | single nucleotide variant | NM_001354930.2(RIPK1):c.1808G>A (p.Arg603His) | not provided [RCV002026171] | uncertain significance | 6 | 3113131 | 3113131 | Human | | name |
| 151743112 | CV1479756 | single nucleotide variant | NM_001354930.2(RIPK1):c.1046T>G (p.Leu349Arg) | not provided [RCV001912120] | uncertain significance | 6 | 3105521 | 3105521 | Human | | name |
| 151805360 | CV1485868 | single nucleotide variant | NM_001354930.2(RIPK1):c.1713G>C (p.Lys571Asn) | not provided [RCV002048357] | uncertain significance | 6 | 3110939 | 3110939 | Human | | name |
| 151838067 | CV1487321 | single nucleotide variant | NM_001354930.2(RIPK1):c.1595C>T (p.Thr532Ile) | not provided [RCV001935774] | uncertain significance | 6 | 3110821 | 3110821 | Human | | name |
| 151834895 | CV1489163 | single nucleotide variant | NM_001354930.2(RIPK1):c.1322G>A (p.Ser441Asn) | not provided [RCV001902186] | uncertain significance | 6 | 3105797 | 3105797 | Human | | name |
| 151858529 | CV1503500 | single nucleotide variant | NM_001354930.2(RIPK1):c.1595C>A (p.Thr532Asn) | not provided [RCV001979826] | uncertain significance | 6 | 3110821 | 3110821 | Human | | name |
| 151728151 | CV1511885 | single nucleotide variant | NM_001354930.2(RIPK1):c.1184C>A (p.Thr395Lys) | not provided [RCV001983922] | uncertain significance | 6 | 3105659 | 3105659 | Human | | name |
| 151889173 | CV1516158 | inversion | NM_001354930.2(RIPK1):c.84_85inv (p.Gly29Arg) | not provided [RCV002038549] | uncertain significance | 6 | 3076907 | 3076908 | Human | | name |
| 152094053 | CV1648803 | single nucleotide variant | NM_001354930.2(RIPK1):c.1335T>A (p.His445Gln) | Immunodeficiency 57 [RCV005397296]|not provided [RCV002078096] | likely benign|uncertain significance | 6 | 3105810 | 3105810 | Human | 1 | name , alternate_id |
| 152103117 | CV1667385 | single nucleotide variant | NM_001354930.2(RIPK1):c.1918G>A (p.Gly640Ser) | not provided [RCV002214372] | uncertain significance | 6 | 3113241 | 3113241 | Human | | name |
| 155749685 | CV1776298 | single nucleotide variant | NM_001354930.2(RIPK1):c.1432C>A (p.Pro478Thr) | not provided [RCV002304910] | uncertain significance | 6 | 3105907 | 3105907 | Human | | name |
| 155732198 | CV1776364 | single nucleotide variant | NM_001354930.2(RIPK1):c.1186A>G (p.Lys396Glu) | not provided [RCV002301750] | uncertain significance | 6 | 3105661 | 3105661 | Human | | name |
| 155800622 | CV1863745 | single nucleotide variant | NM_001354930.2(RIPK1):c.1966T>C (p.Cys656Arg) | Immunodeficiency 57 [RCV004999774]|not provided [RCV002474168] | likely pathogenic|uncertain significance | 6 | 3113289 | 3113289 | Human | 1 | name |
| 155998231 | CV1872599 | single nucleotide variant | NM_001354930.2(RIPK1):c.1655C>T (p.Thr552Met) | not provided [RCV003076452] | uncertain significance | 6 | 3110881 | 3110881 | Human | | name |
| 156193277 | CV1901806 | single nucleotide variant | NM_001354930.2(RIPK1):c.1021G>A (p.Gly341Ser) | Inborn genetic diseases [RCV004068842]|not provided [RCV002595447] | likely benign|uncertain significance | 6 | 3105496 | 3105496 | Human | 1 | name |
| 156369292 | CV1905058 | single nucleotide variant | NM_001354930.2(RIPK1):c.1612G>A (p.Gly538Ser) | Inborn genetic diseases [RCV004961076]|not provided [RCV002582302] | uncertain significance | 6 | 3110838 | 3110838 | Human | 1 | name |
| 156262708 | CV1913687 | single nucleotide variant | NM_001354930.2(RIPK1):c.1330A>T (p.Ser444Cys) | not provided [RCV002627821] | uncertain significance | 6 | 3105805 | 3105805 | Human | | name |
| 156152853 | CV1961173 | single nucleotide variant | NM_001354930.2(RIPK1):c.1255C>T (p.Pro419Ser) | not provided [RCV002572954] | uncertain significance | 6 | 3105730 | 3105730 | Human | | name |
| 156353832 | CV1962218 | single nucleotide variant | NM_001354930.2(RIPK1):c.1871T>C (p.Leu624Pro) | not provided [RCV002581249] | uncertain significance | 6 | 3113194 | 3113194 | Human | | name |
| 156355330 | CV1962350 | single nucleotide variant | NM_001354930.2(RIPK1):c.1991G>A (p.Ser664Asn) | Inborn genetic diseases [RCV004064558]|not provided [RCV002581348] | likely benign|uncertain significance | 6 | 3113314 | 3113314 | Human | 1 | name |
| 156052781 | CV1974435 | single nucleotide variant | NM_001354930.2(RIPK1):c.1922T>C (p.Ile641Thr) | not provided [RCV002590714] | uncertain significance | 6 | 3113245 | 3113245 | Human | | name |
| 155975122 | CV1975126 | single nucleotide variant | NM_001354930.2(RIPK1):c.1598T>C (p.Ile533Thr) | not provided [RCV002617354] | uncertain significance | 6 | 3110824 | 3110824 | Human | | name |
| 156235583 | CV1982411 | single nucleotide variant | NM_001354930.2(RIPK1):c.1585A>G (p.Ile529Val) | not provided [RCV002626956] | uncertain significance | 6 | 3110811 | 3110811 | Human | | name |
| 155994883 | CV1986830 | single nucleotide variant | NM_001354930.2(RIPK1):c.1647T>G (p.Ile549Met) | not provided [RCV002618186] | uncertain significance | 6 | 3110873 | 3110873 | Human | | name |
| 156215560 | CV1997436 | single nucleotide variant | NM_001354930.2(RIPK1):c.1270A>G (p.Arg424Gly) | not provided [RCV002667016] | uncertain significance | 6 | 3105745 | 3105745 | Human | | name |
| 156279712 | CV2011609 | single nucleotide variant | NM_001354930.2(RIPK1):c.1375C>T (p.Pro459Ser) | not provided [RCV002715257] | uncertain significance | 6 | 3105850 | 3105850 | Human | | name |
| 156008148 | CV2015160 | single nucleotide variant | NM_001354930.2(RIPK1):c.2003T>G (p.Val668Gly) | not provided [RCV002690371] | uncertain significance | 6 | 3113326 | 3113326 | Human | | name |
| 156360010 | CV2016573 | single nucleotide variant | NM_001354930.2(RIPK1):c.1640T>C (p.Met547Thr) | not provided [RCV002720798] | uncertain significance | 6 | 3110866 | 3110866 | Human | | name |
| 156165168 | CV2019676 | single nucleotide variant | NM_001354930.2(RIPK1):c.1042G>C (p.Gly348Arg) | not provided [RCV002710316] | uncertain significance | 6 | 3105517 | 3105517 | Human | | name |
| 156173180 | CV2037903 | single nucleotide variant | NM_001354930.2(RIPK1):c.1010C>T (p.Thr337Ile) | not provided [RCV002741922] | uncertain significance | 6 | 3105485 | 3105485 | Human | | name |
| 156248102 | CV2049559 | single nucleotide variant | NM_001354930.2(RIPK1):c.1396A>C (p.Asn466His) | not provided [RCV002791597] | uncertain significance | 6 | 3105871 | 3105871 | Human | | name |
| 156120709 | CV2052299 | single nucleotide variant | NM_001354930.2(RIPK1):c.1360G>A (p.Gly454Arg) | not provided [RCV002825287] | uncertain significance | 6 | 3105835 | 3105835 | Human | | name |
| 156206892 | CV2103784 | single nucleotide variant | NM_001354930.2(RIPK1):c.1528T>C (p.Tyr510His) | RIPK1-related disorder [RCV003898590]|not provided [RCV002931900] | uncertain significance | 6 | 3106003 | 3106003 | Human | 1 | name , trait , alternate_id |
| 156275035 | CV2133018 | single nucleotide variant | NM_001354930.2(RIPK1):c.1945C>G (p.Leu649Val) | not provided [RCV003009399] | uncertain significance | 6 | 3113268 | 3113268 | Human | | name |
| 155939205 | CV2146531 | single nucleotide variant | NM_001354930.2(RIPK1):c.1610C>T (p.Thr537Ile) | not provided [RCV003014152] | uncertain significance | 6 | 3110836 | 3110836 | Human | | name |
| 156070666 | CV2168855 | single nucleotide variant | NM_001354930.2(RIPK1):c.1150T>C (p.Tyr384His) | not provided [RCV003037557] | uncertain significance | 6 | 3105625 | 3105625 | Human | | name |
| 156339415 | CV2179657 | single nucleotide variant | NM_001354930.2(RIPK1):c.1882G>A (p.Val628Ile) | not provided [RCV003030203] | uncertain significance | 6 | 3113205 | 3113205 | Human | | name |
| 156086420 | CV2184509 | single nucleotide variant | NM_001354930.2(RIPK1):c.1151A>G (p.Tyr384Cys) | not provided [RCV003054206] | uncertain significance | 6 | 3105626 | 3105626 | Human | | name |
| 156245906 | CV2267557 | single nucleotide variant | NM_001354930.2(RIPK1):c.1385T>G (p.Leu462Arg) | Inborn genetic diseases [RCV002830815] | uncertain significance | 6 | 3105860 | 3105860 | Human | 1 | name |
| 156075607 | CV2291430 | single nucleotide variant | NM_001354930.2(RIPK1):c.1514T>G (p.Val505Gly) | Inborn genetic diseases [RCV002887136] | uncertain significance | 6 | 3105989 | 3105989 | Human | 1 | name |
| 155902087 | CV2301380 | single nucleotide variant | NM_001354930.2(RIPK1):c.1890G>C (p.Gln630His) | Inborn genetic diseases [RCV002901221] | uncertain significance | 6 | 3113213 | 3113213 | Human | 1 | name |
| 401768264 | CV2719972 | single nucleotide variant | NM_001354930.2(RIPK1):c.1187A>C (p.Lys396Thr) | Inborn genetic diseases [RCV003283136] | uncertain significance | 6 | 3105662 | 3105662 | Human | 1 | name |
| 401865328 | CV2778695 | single nucleotide variant | NM_001354930.2(RIPK1):c.1852G>A (p.Asp618Asn) | Inborn genetic diseases [RCV003359656] | uncertain significance | 6 | 3113175 | 3113175 | Human | 1 | name |
| 401862885 | CV2779060 | single nucleotide variant | NM_001354930.2(RIPK1):c.1756C>T (p.His586Tyr) | Inborn genetic diseases [RCV003343424] | uncertain significance | 6 | 3113079 | 3113079 | Human | 1 | name |
| 401911875 | CV2795928 | single nucleotide variant | NM_001354930.2(RIPK1):c.1607G>C (p.Ser536Thr) | RIPK1-related disorder [RCV003399665]|not provided [RCV003575087] | uncertain significance | 6 | 3110833 | 3110833 | Human | 1 | name , trait , alternate_id |
| 401933377 | CV2804151 | single nucleotide variant | NM_001354930.2(RIPK1):c.2002G>A (p.Val668Ile) | RIPK1-related disorder [RCV003392876]|not provided [RCV003778289] | uncertain significance | 6 | 3113325 | 3113325 | Human | 1 | name , trait , alternate_id |
| 405066962 | CV2875476 | single nucleotide variant | NM_001354930.2(RIPK1):c.1544C>T (p.Pro515Leu) | not provided [RCV003548296] | uncertain significance | 6 | 3106019 | 3106019 | Human | | name |
| 405200787 | CV2877001 | single nucleotide variant | NM_001354930.2(RIPK1):c.1858G>A (p.Glu620Lys) | not provided [RCV003551231] | uncertain significance | 6 | 3113181 | 3113181 | Human | | name |
| 405170136 | CV2951235 | single nucleotide variant | NM_001354930.2(RIPK1):c.1471A>G (p.Arg491Gly) | not provided [RCV003675352] | uncertain significance | 6 | 3105946 | 3105946 | Human | | name |
| 405149938 | CV2959644 | single nucleotide variant | NM_001354930.2(RIPK1):c.1849C>T (p.His617Tyr) | not provided [RCV003673934] | uncertain significance | 6 | 3113172 | 3113172 | Human | | name |
| 405246461 | CV2965798 | single nucleotide variant | NM_001354930.2(RIPK1):c.1551G>A (p.Met517Ile) | not provided [RCV003685405] | uncertain significance | 6 | 3106026 | 3106026 | Human | | name |
| 405238352 | CV2970101 | single nucleotide variant | NM_001354930.2(RIPK1):c.1250A>G (p.His417Arg) | not provided [RCV003683428] | uncertain significance | 6 | 3105725 | 3105725 | Human | | name |
| 405048324 | CV3025301 | single nucleotide variant | NM_001354930.2(RIPK1):c.1690T>C (p.Phe564Leu) | not provided [RCV003696823] | uncertain significance | 6 | 3110916 | 3110916 | Human | | name |
| 405051036 | CV3025593 | single nucleotide variant | NM_001354930.2(RIPK1):c.1022G>A (p.Gly341Asp) | not provided [RCV003696984] | uncertain significance | 6 | 3105497 | 3105497 | Human | | name |
| 405130774 | CV3051043 | single nucleotide variant | NM_001354930.2(RIPK1):c.1599A>G (p.Ile533Met) | not provided [RCV003724807] | uncertain significance | 6 | 3110825 | 3110825 | Human | | name |
| 405243736 | CV3053904 | single nucleotide variant | NM_001354930.2(RIPK1):c.1238G>A (p.Arg413His) | not provided [RCV003719805] | uncertain significance | 6 | 3105713 | 3105713 | Human | | name |
| 405206895 | CV3064426 | single nucleotide variant | NM_001354930.2(RIPK1):c.1145C>G (p.Ala382Gly) | not provided [RCV003731425] | uncertain significance | 6 | 3105620 | 3105620 | Human | | name |
| 405227722 | CV3065609 | single nucleotide variant | NM_001354930.2(RIPK1):c.1609A>G (p.Thr537Ala) | not provided [RCV003734346] | uncertain significance | 6 | 3110835 | 3110835 | Human | | name |
| 405104152 | CV3116649 | single nucleotide variant | NM_001354930.2(RIPK1):c.1674C>G (p.Asp558Glu) | not provided [RCV003812173] | uncertain significance | 6 | 3110900 | 3110900 | Human | | name |
| 405213093 | CV3127589 | single nucleotide variant | NM_001354930.2(RIPK1):c.1501C>T (p.His501Tyr) | not provided [RCV003823637] | uncertain significance | 6 | 3105976 | 3105976 | Human | | name |
| 405218641 | CV3135736 | single nucleotide variant | NM_001354930.2(RIPK1):c.1361G>A (p.Gly454Glu) | not provided [RCV003824361] | uncertain significance | 6 | 3105836 | 3105836 | Human | | name |
| 405225830 | CV3142427 | single nucleotide variant | NM_001354930.2(RIPK1):c.1861C>T (p.Arg621Ter) | not provided [RCV003847966] | uncertain significance | 6 | 3113184 | 3113184 | Human | | name |
| 405166127 | CV3160558 | single nucleotide variant | NM_001354930.2(RIPK1):c.1529A>G (p.Tyr510Cys) | not provided [RCV003857438] | uncertain significance | 6 | 3106004 | 3106004 | Human | | name |
| 405207370 | CV3162109 | single nucleotide variant | NM_001354930.2(RIPK1):c.1274C>T (p.Pro425Leu) | not provided [RCV003861603] | uncertain significance | 6 | 3105749 | 3105749 | Human | | name |
| 405208714 | CV3162498 | single nucleotide variant | NM_001354930.2(RIPK1):c.1978G>A (p.Asp660Asn) | not provided [RCV003861797] | uncertain significance | 6 | 3113301 | 3113301 | Human | | name |
| 405234353 | CV3168406 | single nucleotide variant | NM_001354930.2(RIPK1):c.1322G>T (p.Ser441Ile) | not provided [RCV003865880] | uncertain significance | 6 | 3105797 | 3105797 | Human | | name |
| 405237133 | CV3169092 | single nucleotide variant | NM_001354930.2(RIPK1):c.1701G>C (p.Glu567Asp) | not provided [RCV003866371] | uncertain significance | 6 | 3110927 | 3110927 | Human | | name |
| 405242197 | CV3173273 | single nucleotide variant | NM_001354930.2(RIPK1):c.1453G>C (p.Gly485Arg) | not provided [RCV003867558] | uncertain significance | 6 | 3105928 | 3105928 | Human | | name |
| 402513874 | CV3178495 | single nucleotide variant | NM_001354930.2(RIPK1):c.1168C>T (p.Arg390Cys) | not provided [RCV003879112] | uncertain significance | 6 | 3105643 | 3105643 | Human | | name |
| 405259097 | CV3194517 | single nucleotide variant | NM_001354930.2(RIPK1):c.1663T>C (p.Ser555Pro) | RIPK1-related disorder [RCV003893914] | uncertain significance | 6 | 3110889 | 3110889 | Human | | name , trait , alternate_id |
| 405737583 | CV3319869 | single nucleotide variant | NM_001354930.2(RIPK1):c.1691T>G (p.Phe564Cys) | Inborn genetic diseases [RCV004451880]|not provided [RCV005104666] | uncertain significance | 6 | 3110917 | 3110917 | Human | 1 | name |
| 407475497 | CV3483308 | single nucleotide variant | NM_001354930.2(RIPK1):c.1127G>A (p.Ser376Asn) | Inborn genetic diseases [RCV004663254] | uncertain significance | 6 | 3105602 | 3105602 | Human | 1 | name |
| 597718451 | CV3583675 | single nucleotide variant | NM_001354930.2(RIPK1):c.1461A>C (p.Arg487Ser) | Inborn genetic diseases [RCV004960138] | uncertain significance | 6 | 3105936 | 3105936 | Human | 1 | name |
| 597718456 | CV3583676 | single nucleotide variant | NM_001354930.2(RIPK1):c.1068G>C (p.Glu356Asp) | Inborn genetic diseases [RCV004960139] | uncertain significance | 6 | 3105543 | 3105543 | Human | 1 | name |
| 597718497 | CV3593625 | single nucleotide variant | NM_001354930.2(RIPK1):c.1473G>T (p.Arg491Ser) | Inborn genetic diseases [RCV004960144] | uncertain significance | 6 | 3105948 | 3105948 | Human | 1 | name |
| 597860315 | CV3748660 | single nucleotide variant | NM_001354930.2(RIPK1):c.1427C>G (p.Thr476Arg) | not provided [RCV005067292] | uncertain significance | 6 | 3105902 | 3105902 | Human | | name |
| 597971173 | CV3750645 | single nucleotide variant | NM_001354930.2(RIPK1):c.1646T>C (p.Ile549Thr) | not provided [RCV005084389] | uncertain significance | 6 | 3110872 | 3110872 | Human | | name |
| 597956836 | CV3754578 | single nucleotide variant | NM_001354930.2(RIPK1):c.1217A>C (p.Asn406Thr) | not provided [RCV005080428] | uncertain significance | 6 | 3105692 | 3105692 | Human | | name |
| 597946450 | CV3755587 | single nucleotide variant | NM_001354930.2(RIPK1):c.1911G>A (p.Met637Ile) | not provided [RCV005078597] | uncertain significance | 6 | 3113234 | 3113234 | Human | | name |
| 597834561 | CV3760771 | single nucleotide variant | NM_001354930.2(RIPK1):c.1271G>T (p.Arg424Ile) | not provided [RCV005085322] | uncertain significance | 6 | 3105746 | 3105746 | Human | | name |
| 597952134 | CV3765563 | single nucleotide variant | NM_001354930.2(RIPK1):c.1946T>C (p.Leu649Pro) | not provided [RCV005121207] | uncertain significance | 6 | 3113269 | 3113269 | Human | | name |
| 597944215 | CV3782781 | single nucleotide variant | NM_001354930.2(RIPK1):c.1072T>G (p.Trp358Gly) | not provided [RCV005134321] | uncertain significance | 6 | 3105547 | 3105547 | Human | | name |
| 597969347 | CV3791320 | single nucleotide variant | NM_001354930.2(RIPK1):c.1551G>T (p.Met517Ile) | not provided [RCV005141352] | uncertain significance | 6 | 3106026 | 3106026 | Human | | name |
| 597962301 | CV3795462 | single nucleotide variant | NM_001354930.2(RIPK1):c.1724T>G (p.Ile575Ser) | not provided [RCV005139154] | uncertain significance | 6 | 3110950 | 3110950 | Human | | name |
| 597965427 | CV3797136 | single nucleotide variant | NM_001354930.2(RIPK1):c.1951C>T (p.Gln651Ter) | not provided [RCV005140096] | uncertain significance | 6 | 3113274 | 3113274 | Human | | name |
| 597870299 | CV3799783 | single nucleotide variant | NM_001354930.2(RIPK1):c.1191G>C (p.Gln397His) | not provided [RCV005148197] | uncertain significance | 6 | 3105666 | 3105666 | Human | | name |
| 597873713 | CV3805504 | single nucleotide variant | NM_001354930.2(RIPK1):c.1706C>T (p.Ala569Val) | not provided [RCV005148782] | benign | 6 | 3110932 | 3110932 | Human | | name |
| 597942960 | CV3816359 | single nucleotide variant | NM_001354930.2(RIPK1):c.1893G>A (p.Met631Ile) | not provided [RCV005159420] | uncertain significance | 6 | 3113216 | 3113216 | Human | | name |
| 597927057 | CV3819825 | single nucleotide variant | NM_001354930.2(RIPK1):c.1491G>A (p.Met497Ile) | not provided [RCV005156525] | uncertain significance | 6 | 3105966 | 3105966 | Human | | name |
| 597897508 | CV3834735 | single nucleotide variant | NM_001354930.2(RIPK1):c.1203G>C (p.Gln401His) | not provided [RCV005180646] | uncertain significance | 6 | 3105678 | 3105678 | Human | | name |
| 597888329 | CV3859480 | single nucleotide variant | NM_001354930.2(RIPK1):c.1723A>G (p.Ile575Val) | not provided [RCV005200136] | uncertain significance | 6 | 3110949 | 3110949 | Human | | name |
| 597921994 | CV3861857 | single nucleotide variant | NM_001354930.2(RIPK1):c.1312G>A (p.Ala438Thr) | not provided [RCV005205233] | uncertain significance | 6 | 3105787 | 3105787 | Human | | name |
| 598126792 | CV3882248 | single nucleotide variant | NM_001354930.2(RIPK1):c.1112A>G (p.Glu371Gly) | not provided [RCV005233799] | uncertain significance | 6 | 3105587 | 3105587 | Human | | name |
| 598228675 | CV3899177 | single nucleotide variant | NM_001354930.2(RIPK1):c.1870C>A (p.Leu624Met) | Inborn genetic diseases [RCV005274169] | uncertain significance | 6 | 3113193 | 3113193 | Human | 1 | name |
| 14352085 | CV589848 | single nucleotide variant | NM_001354930.2(RIPK1):c.1278C>A (p.Tyr426Ter) | IL10-related early-onset inflammatory bowel disease [RCV000754604] | pathogenic | 6 | 3105753 | 3105753 | Human | 1 | name |
| 14352089 | CV589849 | single nucleotide variant | NM_001354930.2(RIPK1):c.1802G>A (p.Cys601Tyr) | IL10-related early-onset inflammatory bowel disease [RCV000754606] | pathogenic | 6 | 3113125 | 3113125 | Human | 1 | name |
| 14352081 | CV589850 | single nucleotide variant | NM_001354930.2(RIPK1):c.1844T>C (p.Ile615Thr) | IL10-related early-onset inflammatory bowel disease [RCV000754602] | pathogenic | 6 | 3113167 | 3113167 | Human | 1 | name |
| 14352083 | CV589851 | single nucleotide variant | NM_001354930.2(RIPK1):c.1934C>T (p.Thr645Met) | Autoinflammation with episodic fever and lymphadenopathy [RCV003989593]|IL10-related early-onset inflammatory bowel disease [RCV000754603]|Immunodeficiency 57 [RCV001331110]|See cases [RCV003324714]|not provided [RCV001855836] | pathogenic|likely pathogenic|uncertain significance | 6 | 3113257 | 3113257 | Human | 2 | name , alternate_id |
| 126727570 | CV991427 | single nucleotide variant | NM_001354930.2(RIPK1):c.1955C>T (p.Ala652Val) | not provided [RCV001303188] | uncertain significance | 6 | 3113278 | 3113278 | Human | | name |
| 151863932 | CV1374527 | microsatellite | NM_001354930.2(RIPK1):c.552GAA[1] (p.Lys185del) | not provided [RCV001884302] | uncertain significance | 6 | 3083175 | 3083177 | Human | | name |
| 151740900 | CV1478035 | deletion | NM_001354930.2(RIPK1):c.528_532del (p.Arg177fs) | Immunodeficiency 57 [RCV003152783]|not provided [RCV001947094] | pathogenic | 6 | 3083153 | 3083157 | Human | 1 | name |
| 402495142 | CV2978613 | deletion | NM_001354930.2(RIPK1):c.569_585del (p.Leu190fs) | not provided [RCV003714179] | pathogenic | 6 | 3083191 | 3083207 | Human | | name |
| 151855837 | CV1372972 | microsatellite | NM_001354930.2(RIPK1):c.1666CTA[1] (p.Leu557del) | not provided [RCV001996527] | uncertain significance | 6 | 3110891 | 3110893 | Human | | name |
| 597928045 | CV3749086 | microsatellite | NM_001354930.2(RIPK1):c.1101AGA[1] (p.Glu369del) | not provided [RCV005075542] | uncertain significance | 6 | 3105575 | 3105577 | Human | | name |
| 153000389 | CV1683013 | deletion | NM_001354930.2(RIPK1):c.1458_1459del (p.Arg487fs) | See cases [RCV002253023] | likely pathogenic | 6 | 3105933 | 3105934 | Human | | name |
| 156344740 | CV1995090 | microsatellite | NM_001354930.2(RIPK1):c.1803_1804del (p.Ala602fs) | not provided [RCV002650510] | uncertain significance | 6 | 3113124 | 3113125 | Human | | name |
| 126908688 | CV969919 | deletion | NM_001354930.2(RIPK1):c.1802_1805del (p.Cys601fs) | Hereditary breast ovarian cancer syndrome [RCV001374515] | pathogenic | 6 | 3113125 | 3113128 | Human | 1 | name |
| 405288638 | CV3193745 | indel | NM_001354930.2(RIPK1):c.82_84delinsCTC (p.Phe28Leu) | RIPK1-related disorder [RCV003982751] | uncertain significance | 6 | 3076905 | 3076907 | Human | | name , trait , alternate_id |
| 156362253 | CV2016761 | insertion | NM_001354930.2(RIPK1):c.1682_1683insAAAA (p.Asn561fs) | Immunodeficiency 57 [RCV003147784]|not provided [RCV002720944] | likely pathogenic|uncertain significance | 6 | 3110905 | 3110906 | Human | 1 | name |
| 127301637 | CV1155322 | indel | NM_001354930.2(RIPK1):c.1706_1707delinsTC (p.Ala569Val) | not provided [RCV001514758] | benign | 6 | 3110932 | 3110933 | Human | | name |
| 151819426 | CV1488277 | deletion | NM_001354930.2(RIPK1):c.2014_*1del (p.Ter672ProextTer?) | not provided [RCV001975583] | uncertain significance | 6 | 3113334 | 3113337 | Human | | name |
| 405218238 | CV2968667 | indel | NM_001354930.2(RIPK1):c.1122_1123delinsAA (p.Gln375Lys) | Immunodeficiency 57 [RCV004546804]|not provided [RCV003680307] | uncertain significance | 6 | 3105597 | 3105598 | Human | | name |
| 13797814 | CV552270 | microsatellite | NM_001354930.2(RIPK1):c.867_870del (p.Phe288_Tyr289insTer) | Immunodeficiency 57 [RCV000680190] | pathogenic | 6 | 3089605 | 3089608 | Human | | name |
| 155956021 | CV2086980 | duplication | NM_001354930.2(RIPK1):c.424_429dup (p.Asn143_Ile144insGluAsn) | not provided [RCV002862607] | uncertain significance | 6 | 3081079 | 3081080 | Human | | name |