| 8568713 | CV39930 | deletion | COLEC11, EX1-3DEL | 3MC syndrome 2 [RCV000023964] | pathogenic | | | | Human | 1 | name |
| 151870637 | CV1466543 | single nucleotide variant | NM_024027.5(COLEC11):c.329-4G>T | not provided [RCV001906430] | likely benign|uncertain significance | 2 | 3643440 | 3643440 | Human | | name |
| 156374122 | CV2123925 | single nucleotide variant | NM_024027.5(COLEC11):c.425-9A>G | not provided [RCV002942567] | benign | 2 | 3643718 | 3643718 | Human | | name |
| 405274791 | CV3204461 | single nucleotide variant | NM_024027.5(COLEC11):c.329-6C>T | COLEC11-related disorder [RCV003951901] | likely benign | 2 | 3643438 | 3643438 | Human | | name , trait , alternate_id |
| 405283073 | CV3218402 | single nucleotide variant | NM_024027.5(COLEC11):c.130+6C>T | COLEC11-related disorder [RCV003957209] | likely benign | 2 | 3604476 | 3604476 | Human | | name , trait , alternate_id |
| 405261959 | CV3219947 | single nucleotide variant | NM_024027.5(COLEC11):c.-26-5T>C | COLEC11-related disorder [RCV003967110] | likely benign | 2 | 3604310 | 3604310 | Human | | name , trait , alternate_id |
| 405654055 | CV3228091 | single nucleotide variant | NM_024027.5(COLEC11):c.131-3C>T | not specified [RCV003994825] | uncertain significance | 2 | 3613308 | 3613308 | Human | | name |
| 597915431 | CV3740723 | single nucleotide variant | NM_024027.5(COLEC11):c.425-3C>T | not provided [RCV005074060] | uncertain significance | 2 | 3643724 | 3643724 | Human | | name |
| 152057955 | CV1567425 | single nucleotide variant | NM_024027.5(COLEC11):c.202+19C>T | not provided [RCV002146459] | benign | 2 | 3613401 | 3613401 | Human | | name |
| 156240420 | CV1952974 | single nucleotide variant | NM_024027.5(COLEC11):c.329-19G>A | not provided [RCV002576199] | likely benign | 2 | 3643425 | 3643425 | Human | | name |
| 156172959 | CV2016237 | single nucleotide variant | NM_024027.5(COLEC11):c.130+15G>A | not provided [RCV002710538] | likely benign | 2 | 3604485 | 3604485 | Human | | name |
| 156182027 | CV2020521 | single nucleotide variant | NM_024027.5(COLEC11):c.425-16C>T | not provided [RCV002710812] | likely benign | 2 | 3643711 | 3643711 | Human | | name |
| 156037602 | CV2047722 | single nucleotide variant | NM_024027.5(COLEC11):c.424+16C>T | not provided [RCV002781369] | benign | 2 | 3643555 | 3643555 | Human | | name |
| 156249636 | CV2168988 | single nucleotide variant | NM_024027.5(COLEC11):c.202+10G>A | not provided [RCV003026293] | likely benign | 2 | 3613392 | 3613392 | Human | | name |
| 405144054 | CV3126125 | single nucleotide variant | NM_024027.5(COLEC11):c.424+13C>T | not provided [RCV003817041] | likely benign | 2 | 3643552 | 3643552 | Human | | name |
| 405204839 | CV3165597 | single nucleotide variant | NM_024027.5(COLEC11):c.424+20G>A | not provided [RCV003861263] | likely benign | 2 | 3643559 | 3643559 | Human | | name |
| 10045299 | CV189102 | single nucleotide variant | NM_024027.5(COLEC11):c.-26-701G>C | not specified [RCV000171491] | likely pathogenic|uncertain significance | 2 | 3603614 | 3603614 | Human | | name |
| 405286328 | CV3196575 | single nucleotide variant | NM_024027.5(COLEC11):c.-26-646C>T | COLEC11-related disorder [RCV003981428] | likely benign | 2 | 3603669 | 3603669 | Human | | name , trait , alternate_id |
| 405291713 | CV3206047 | single nucleotide variant | NM_024027.5(COLEC11):c.-26-679G>A | COLEC11-related disorder [RCV003964135] | likely benign | 2 | 3603636 | 3603636 | Human | | name , trait , alternate_id |
| 405294317 | CV3214835 | single nucleotide variant | NM_024027.5(COLEC11):c.-26-670G>A | COLEC11-related disorder [RCV003934248] | likely benign | 2 | 3603645 | 3603645 | Human | | name , trait , alternate_id |
| 405266963 | CV3220209 | single nucleotide variant | NM_024027.5(COLEC11):c.-26-645G>A | COLEC11-related disorder [RCV003969460] | likely benign | 2 | 3603670 | 3603670 | Human | | name , trait , alternate_id |
| 405273064 | CV3197583 | single nucleotide variant | NM_024027.5(COLEC11):c.130+1716T>C | COLEC11-related disorder [RCV003901551] | likely benign | 2 | 3606186 | 3606186 | Human | | name , trait , alternate_id |
| 405264992 | CV3201443 | single nucleotide variant | NM_024027.5(COLEC11):c.130+1740A>T | COLEC11-related disorder [RCV003897201] | uncertain significance | 2 | 3606210 | 3606210 | Human | | name , trait , alternate_id |
| 408377959 | CV3500889 | single nucleotide variant | NM_024027.5(COLEC11):c.130+1748C>T | not provided [RCV004722539] | likely benign | 2 | 3606218 | 3606218 | Human | | name |
| 408367004 | CV3511457 | single nucleotide variant | NM_024027.5(COLEC11):c.130+1753G>C | COLEC11-related disorder [RCV004757737] | likely benign | 2 | 3606223 | 3606223 | Human | | name , trait , alternate_id |
| 12896626 | CV389501 | single nucleotide variant | NM_024027.5(COLEC11):c.130+1784T>C | not provided [RCV004710034]|not specified [RCV000455602] | benign | 2 | 3606254 | 3606254 | Human | | name |
| 405290187 | CV3221387 | single nucleotide variant | NM_024027.5(COLEC11):c.203-11487C>T | COLEC11-related disorder [RCV003962224] | likely benign | 2 | 3626046 | 3626046 | Human | | name , trait , alternate_id |
| 12896300 | CV389503 | single nucleotide variant | NM_024027.5(COLEC11):c.203-11475G>A | not provided [RCV004710033]|not specified [RCV000455169] | benign | 2 | 3626058 | 3626058 | Human | | name |
| 15168427 | CV730140 | duplication | NM_024027.5(COLEC11):c.329-6_329-5dup | COLEC11-related disorder [RCV003920583]|not provided [RCV000883061] | likely benign | 2 | 3643434 | 3643435 | Human | 1 | name , trait , alternate_id |
| 126732958 | CV1019647 | deletion | NM_024027.5(COLEC11):c.26del (p.Gly9fs) | 3MC syndrome 2 [RCV001334175] | pathogenic | 2 | 3604364 | 3604364 | Human | | name |
| 152105975 | CV1609571 | single nucleotide variant | NM_024027.5(COLEC11):c.243T>C (p.Arg81=) | not provided [RCV002115938] | benign | 2 | 3637573 | 3637573 | Human | | name |
| 152161728 | CV1635623 | single nucleotide variant | NM_024027.5(COLEC11):c.255T>C (p.Ile85=) | not provided [RCV002203549] | benign | 2 | 3637585 | 3637585 | Human | | name |
| 155938982 | CV2225270 | single nucleotide variant | NM_024027.5(COLEC11):c.26G>T (p.Gly9Val) | Inborn genetic diseases [RCV002751668] | uncertain significance | 2 | 3604366 | 3604366 | Human | 1 | name |
| 155906201 | CV2393899 | single nucleotide variant | NM_024027.5(COLEC11):c.11A>G (p.Asn4Ser) | Inborn genetic diseases [RCV002749486] | uncertain significance | 2 | 3604351 | 3604351 | Human | 1 | name |
| 401751958 | CV2723069 | single nucleotide variant | NM_024027.5(COLEC11):c.10A>C (p.Asn4His) | Inborn genetic diseases [RCV003295676] | uncertain significance | 2 | 3604350 | 3604350 | Human | 1 | name |
| 404979182 | CV3183154 | single nucleotide variant | NM_024027.5(COLEC11):c.162C>T (p.Ala54=) | not provided [RCV003880177] | likely benign | 2 | 3613342 | 3613342 | Human | | name |
| 405265879 | CV3220947 | single nucleotide variant | NM_024027.5(COLEC11):c.114C>T (p.Leu38=) | COLEC11-related disorder [RCV003969104] | uncertain significance | 2 | 3604454 | 3604454 | Human | | name , trait , alternate_id |
| 405656731 | CV3306339 | single nucleotide variant | NM_024027.5(COLEC11):c.111C>T (p.Ile37=) | Inborn genetic diseases [RCV004437681] | likely benign | 2 | 3604451 | 3604451 | Human | 1 | name |
| 597663754 | CV3654032 | single nucleotide variant | NM_024027.5(COLEC11):c.192G>A (p.Thr64=) | Inborn genetic diseases [RCV004979014] | likely benign | 2 | 3613372 | 3613372 | Human | 1 | name |
| 598233370 | CV3948779 | single nucleotide variant | NM_024027.5(COLEC11):c.135T>C (p.Asp45=) | Inborn genetic diseases [RCV005319919] | likely benign | 2 | 3613315 | 3613315 | Human | 1 | name |
| 8568709 | CV39926 | deletion | NM_024027.5(COLEC11):c.45del (p.Phe16fs) | 3MC syndrome 2 [RCV000023960] | pathogenic | 2 | 3604384 | 3604384 | Human | 1 | name |
| 13462769 | CV439000 | single nucleotide variant | NM_024027.5(COLEC11):c.23T>C (p.Val8Ala) | not provided [RCV000514798] | benign|likely benign | 2 | 3604363 | 3604363 | Human | | name |
| 15162938 | CV719867 | single nucleotide variant | NM_024027.5(COLEC11):c.165C>T (p.Pro55=) | Inborn genetic diseases [RCV003279136]|not provided [RCV000881860] | likely benign | 2 | 3613345 | 3613345 | Human | 1 | name |
| 15202175 | CV763210 | single nucleotide variant | NM_024027.5(COLEC11):c.291C>T (p.Ser97=) | not provided [RCV000935870] | benign|likely benign | 2 | 3640294 | 3640294 | Human | | name |
| 156401147 | CV1889073 | single nucleotide variant | NM_024027.5(COLEC11):c.492G>A (p.Ala164=) | not provided [RCV003069148] | likely benign | 2 | 3643794 | 3643794 | Human | | name |
| 156031125 | CV1910804 | single nucleotide variant | NM_024027.5(COLEC11):c.636C>T (p.Gly212=) | COLEC11-related disorder [RCV003953928]|not provided [RCV002619857] | likely benign | 2 | 3643938 | 3643938 | Human | 1 | name , trait , alternate_id |
| 156279613 | CV1967849 | single nucleotide variant | NM_024027.5(COLEC11):c.429C>T (p.Val143=) | not provided [RCV002598353] | likely benign | 2 | 3643731 | 3643731 | Human | | name |
| 156414422 | CV1986647 | single nucleotide variant | NM_024027.5(COLEC11):c.711C>T (p.Tyr237=) | not provided [RCV002609193] | likely benign | 2 | 3644013 | 3644013 | Human | | name |
| 329379235 | CV2456167 | single nucleotide variant | NM_024027.5(COLEC11):c.94G>A (p.Ala32Thr) | Inborn genetic diseases [RCV003212427] | uncertain significance | 2 | 3604434 | 3604434 | Human | 1 | name |
| 329350988 | CV2477818 | deletion | NM_024027.5(COLEC11):c.241del (p.Arg81fs) | not provided [RCV003223931] | likely pathogenic | 2 | 3637571 | 3637571 | Human | | name |
| 401910843 | CV2815496 | single nucleotide variant | NM_024027.5(COLEC11):c.345C>T (p.Cys115=) | not provided [RCV003425489] | likely benign | 2 | 3643460 | 3643460 | Human | | name |
| 402501333 | CV3180971 | single nucleotide variant | NM_024027.5(COLEC11):c.717G>A (p.Glu239=) | not provided [RCV003877988] | likely benign | 2 | 3644019 | 3644019 | Human | | name |
| 405268261 | CV3198886 | single nucleotide variant | NM_024027.5(COLEC11):c.690C>T (p.Ser230=) | COLEC11-related disorder [RCV003912004] | likely benign | 2 | 3643992 | 3643992 | Human | | name , trait , alternate_id |
| 405269004 | CV3199126 | single nucleotide variant | NM_024027.5(COLEC11):c.576C>T (p.Tyr192=) | COLEC11-related disorder [RCV003912229] | likely benign | 2 | 3643878 | 3643878 | Human | | name , trait , alternate_id |
| 405290616 | CV3207587 | single nucleotide variant | NM_024027.5(COLEC11):c.642C>T (p.Phe214=) | COLEC11-related disorder [RCV003927158] | likely benign | 2 | 3643944 | 3643944 | Human | | name , trait , alternate_id |
| 405295073 | CV3210973 | single nucleotide variant | NM_024027.5(COLEC11):c.726C>T (p.Cys242=) | COLEC11-related disorder [RCV003936980] | likely benign | 2 | 3644028 | 3644028 | Human | | name , trait , alternate_id |
| 405278321 | CV3221871 | single nucleotide variant | NM_024027.5(COLEC11):c.528G>A (p.Thr176=) | COLEC11-related disorder [RCV003976430] | likely benign | 2 | 3643830 | 3643830 | Human | | name , trait , alternate_id |
| 405853966 | CV3393725 | single nucleotide variant | NM_024027.5(COLEC11):c.333C>T (p.Leu111=) | not provided [RCV004546951] | likely benign | 2 | 3643448 | 3643448 | Human | | name |
| 408367046 | CV3512213 | single nucleotide variant | NM_024027.5(COLEC11):c.315T>C (p.Pro105=) | COLEC11-related disorder [RCV004757778] | likely benign | 2 | 3640318 | 3640318 | Human | | name , trait , alternate_id |
| 597663760 | CV3654033 | single nucleotide variant | NM_024027.5(COLEC11):c.28G>A (p.Val10Ile) | Inborn genetic diseases [RCV004979015] | uncertain significance | 2 | 3604368 | 3604368 | Human | 1 | name |
| 597858310 | CV3748253 | single nucleotide variant | NM_024027.5(COLEC11):c.744G>C (p.Ser248=) | not provided [RCV005067075] | likely benign | 2 | 3644046 | 3644046 | Human | | name |
| 597946421 | CV3790129 | single nucleotide variant | NM_024027.5(COLEC11):c.651T>C (p.Ser217=) | not provided [RCV005134830] | likely benign | 2 | 3643953 | 3643953 | Human | | name |
| 598128521 | CV3887725 | single nucleotide variant | NM_024027.5(COLEC11):c.378C>T (p.Asp126=) | not provided [RCV005243899] | likely benign | 2 | 3643493 | 3643493 | Human | | name |
| 15190823 | CV697559 | single nucleotide variant | NM_024027.5(COLEC11):c.366C>T (p.Ile122=) | not provided [RCV000954591] | benign | 2 | 3643481 | 3643481 | Human | | name |
| 15171700 | CV697560 | single nucleotide variant | NM_024027.5(COLEC11):c.432C>T (p.Ala144=) | not provided [RCV000949880] | benign | 2 | 3643734 | 3643734 | Human | | name |
| 15191707 | CV697561 | single nucleotide variant | NM_024027.5(COLEC11):c.777C>T (p.Thr259=) | not provided [RCV000954854] | benign|likely benign | 2 | 3644079 | 3644079 | Human | | name |
| 15183555 | CV708263 | single nucleotide variant | NM_024027.5(COLEC11):c.360G>A (p.Lys120=) | not provided [RCV000974903] | benign | 2 | 3643475 | 3643475 | Human | | name |
| 15105308 | CV747622 | single nucleotide variant | NM_024027.5(COLEC11):c.588C>T (p.Ala196=) | not provided [RCV000915520] | likely benign | 2 | 3643890 | 3643890 | Human | | name |
| 15136037 | CV747623 | single nucleotide variant | NM_024027.5(COLEC11):c.744G>A (p.Ser248=) | not provided [RCV000920948] | likely benign | 2 | 3644046 | 3644046 | Human | | name |
| 15129128 | CV781325 | single nucleotide variant | NM_024027.5(COLEC11):c.615C>A (p.Ile205=) | not provided [RCV000980826] | likely benign | 2 | 3643917 | 3643917 | Human | | name |
| 8630340 | CV85495 | single nucleotide variant | NM_024027.4(COLEC11):c.507C>T (p.Ser169=) | Malignant melanoma [RCV000065578] | not provided | 2 | 3643809 | 3643809 | Human | | name |
| 41407721 | CV980445 | single nucleotide variant | NM_024027.5(COLEC11):c.28G>T (p.Val10Phe) | 3MC syndrome 2 [RCV001280966] | uncertain significance | 2 | 3604368 | 3604368 | Human | 1 | name |
| 156028012 | CV1922998 | single nucleotide variant | NM_024027.5(COLEC11):c.137C>T (p.Ala46Val) | not provided [RCV002637033] | uncertain significance | 2 | 3613317 | 3613317 | Human | | name |
| 156023597 | CV2115995 | single nucleotide variant | NM_024027.5(COLEC11):c.242G>A (p.Arg81His) | COLEC11-related disorder [RCV003961228]|Inborn genetic diseases [RCV002909732]|not provided [RCV002909731] | likely benign | 2 | 3637572 | 3637572 | Human | 2 | name , trait , alternate_id |
| 156386951 | CV2221361 | single nucleotide variant | NM_024027.5(COLEC11):c.172C>G (p.Pro58Ala) | Inborn genetic diseases [RCV002723776] | uncertain significance | 2 | 3613352 | 3613352 | Human | 1 | name |
| 401770675 | CV2707341 | single nucleotide variant | NM_024027.5(COLEC11):c.224A>G (p.Gln75Arg) | Inborn genetic diseases [RCV003261181] | uncertain significance | 2 | 3637554 | 3637554 | Human | 1 | name |
| 401854894 | CV2752659 | single nucleotide variant | NM_024027.5(COLEC11):c.284G>T (p.Gly95Val) | 3MC syndrome 2 [RCV003337713] | uncertain significance | 2 | 3640287 | 3640287 | Human | 1 | name |
| 405656733 | CV3306340 | single nucleotide variant | NM_024027.5(COLEC11):c.239G>C (p.Gly80Ala) | Inborn genetic diseases [RCV004437682] | uncertain significance | 2 | 3637569 | 3637569 | Human | 1 | name |
| 8568712 | CV39929 | deletion | NM_024027.5(COLEC11):c.309del (p.Gly104fs) | 3MC syndrome 2 [RCV000023963]|not provided [RCV002513213] | pathogenic|uncertain significance | 2 | 3640312 | 3640312 | Human | 1 | name |
| 15183000 | CV733463 | single nucleotide variant | NM_024027.5(COLEC11):c.169C>T (p.Arg57Trp) | COLEC11-related disorder [RCV003977944]|not provided [RCV000907960] | likely benign | 2 | 3613349 | 3613349 | Human | 1 | name , trait , alternate_id |
| 15172853 | CV733464 | single nucleotide variant | NM_024027.5(COLEC11):c.191C>T (p.Thr64Met) | COLEC11-related disorder [RCV003958226]|not provided [RCV000905751] | likely benign|uncertain significance | 2 | 3613371 | 3613371 | Human | 1 | name , trait , alternate_id |
| 126739904 | CV1016066 | single nucleotide variant | NM_024027.5(COLEC11):c.307C>T (p.Pro103Ser) | 3MC syndrome 2 [RCV001329308] | uncertain significance | 2 | 3640310 | 3640310 | Human | 1 | name |
| 151768059 | CV1409452 | single nucleotide variant | NM_024027.5(COLEC11):c.643G>T (p.Val215Leu) | not provided [RCV001896059] | uncertain significance | 2 | 3643945 | 3643945 | Human | | name |
| 152115547 | CV1641204 | single nucleotide variant | NM_024027.5(COLEC11):c.656A>G (p.His219Arg) | not provided [RCV002117136] | benign | 2 | 3643958 | 3643958 | Human | 2 | name |
| 152115547 | CV1641204 | single nucleotide variant | NM_024027.5(COLEC11):c.656A>G (p.His219Arg) | not provided [RCV002117136] | benign | 2 | 3643958 | 3643959 | Human | 2 | name |
| 156135918 | CV1901926 | single nucleotide variant | NM_024027.5(COLEC11):c.581C>T (p.Ala194Val) | Inborn genetic diseases [RCV003073517]|not provided [RCV003082013] | uncertain significance | 2 | 3643883 | 3643883 | Human | 1 | name |
| 156446471 | CV1937947 | single nucleotide variant | NM_024027.5(COLEC11):c.637G>A (p.Ala213Thr) | not provided [RCV003117976] | uncertain significance | 2 | 3643939 | 3643939 | Human | | name |
| 156252119 | CV1984871 | single nucleotide variant | NM_024027.5(COLEC11):c.368G>A (p.Gly123Glu) | not provided [RCV002645931] | uncertain significance | 2 | 3643483 | 3643483 | Human | | name |
| 155994464 | CV2156163 | single nucleotide variant | NM_024027.5(COLEC11):c.557A>G (p.Asn186Ser) | not provided [RCV002996721] | uncertain significance | 2 | 3643859 | 3643859 | Human | | name |
| 156168223 | CV2197663 | single nucleotide variant | NM_024027.5(COLEC11):c.622C>G (p.Leu208Val) | Inborn genetic diseases [RCV002664573] | uncertain significance | 2 | 3643924 | 3643924 | Human | 1 | name |
| 155920064 | CV2209865 | single nucleotide variant | NM_024027.5(COLEC11):c.491C>T (p.Ala164Val) | Inborn genetic diseases [RCV002682725] | likely benign | 2 | 3643793 | 3643793 | Human | 1 | name |
| 156215348 | CV2257565 | single nucleotide variant | NM_024027.5(COLEC11):c.328G>T (p.Gly110Cys) | Inborn genetic diseases [RCV002804363] | uncertain significance | 2 | 3640331 | 3640331 | Human | 1 | name |
| 156087882 | CV2259011 | single nucleotide variant | NM_024027.5(COLEC11):c.734T>C (p.Met245Thr) | Inborn genetic diseases [RCV002798326] | uncertain significance | 2 | 3644036 | 3644036 | Human | 1 | name |
| 156298711 | CV2310651 | single nucleotide variant | NM_024027.5(COLEC11):c.691G>A (p.Gly231Ser) | Inborn genetic diseases [RCV002897750] | uncertain significance | 2 | 3643993 | 3643993 | Human | 1 | name |
| 156267981 | CV2398394 | single nucleotide variant | NM_024027.5(COLEC11):c.434G>T (p.Gly145Val) | Inborn genetic diseases [RCV002769858] | uncertain significance | 2 | 3643736 | 3643736 | Human | 1 | name |
| 243064667 | CV2414861 | single nucleotide variant | NM_024027.5(COLEC11):c.508T>C (p.Cys170Arg) | 3MC syndrome 2 [RCV003143336] | uncertain significance | 2 | 3643810 | 3643810 | Human | 1 | name |
| 401717917 | CV2725015 | single nucleotide variant | NM_024027.5(COLEC11):c.686G>A (p.Arg229His) | Inborn genetic diseases [RCV003242879] | uncertain significance | 2 | 3643988 | 3643988 | Human | 1 | name |
| 401855603 | CV2753021 | single nucleotide variant | NM_024027.5(COLEC11):c.440G>A (p.Arg147His) | 3MC syndrome 2 [RCV003338076] | uncertain significance | 2 | 3643742 | 3643742 | Human | 1 | name |
| 402497569 | CV2871635 | single nucleotide variant | NM_024027.5(COLEC11):c.514G>A (p.Gly172Ser) | not provided [RCV003545574] | likely benign | 2 | 3643816 | 3643816 | Human | | name |
| 405656593 | CV3227913 | deletion | NM_024027.5(COLEC11):c.82_94del (p.Ala28fs) | 3MC syndrome [RCV003994655] | pathogenic | 2 | 3604420 | 3604432 | Human | 1 | name |
| 407452052 | CV3423253 | single nucleotide variant | NM_024027.5(COLEC11):c.367G>A (p.Gly123Arg) | Inborn genetic diseases [RCV004608284] | uncertain significance | 2 | 3643482 | 3643482 | Human | 1 | name |
| 407452055 | CV3423254 | single nucleotide variant | NM_024027.5(COLEC11):c.599G>A (p.Arg200His) | Inborn genetic diseases [RCV004608285] | uncertain significance | 2 | 3643901 | 3643901 | Human | 1 | name |
| 597663741 | CV3654030 | single nucleotide variant | NM_024027.5(COLEC11):c.415A>G (p.Ile139Val) | Inborn genetic diseases [RCV004979012] | uncertain significance | 2 | 3643530 | 3643530 | Human | 1 | name |
| 597663747 | CV3654031 | single nucleotide variant | NM_024027.5(COLEC11):c.307C>G (p.Pro103Ala) | Inborn genetic diseases [RCV004979013] | uncertain significance | 2 | 3640310 | 3640310 | Human | 1 | name |
| 597938785 | CV3852907 | single nucleotide variant | NM_024027.5(COLEC11):c.304C>A (p.Pro102Thr) | not provided [RCV005187308] | uncertain significance | 2 | 3640307 | 3640307 | Human | | name |
| 598233361 | CV3948777 | single nucleotide variant | NM_024027.5(COLEC11):c.658T>A (p.Ser220Thr) | Inborn genetic diseases [RCV005319917] | uncertain significance | 2 | 3643960 | 3643960 | Human | 1 | name |
| 598233366 | CV3948778 | single nucleotide variant | NM_024027.5(COLEC11):c.748G>A (p.Gly250Ser) | Inborn genetic diseases [RCV005319918] | uncertain significance | 2 | 3644050 | 3644050 | Human | 1 | name |
| 598233374 | CV3948780 | single nucleotide variant | NM_024027.5(COLEC11):c.389C>G (p.Ser130Cys) | Inborn genetic diseases [RCV005319920] | uncertain significance | 2 | 3643504 | 3643504 | Human | 1 | name |
| 8568708 | CV39925 | single nucleotide variant | NM_024027.5(COLEC11):c.505T>C (p.Ser169Pro) | 3MC syndrome 2 [RCV000023959] | pathogenic | 2 | 3643807 | 3643807 | Human | 1 | name |
| 8568710 | CV39927 | single nucleotide variant | NM_024027.5(COLEC11):c.610G>A (p.Gly204Ser) | 3MC syndrome 2 [RCV000023961]|not provided [RCV003228901] | pathogenic | 2 | 3643912 | 3643912 | Human | 1 | name |
| 617151237 | CV4017793 | single nucleotide variant | NM_024027.5(COLEC11):c.496G>A (p.Ala166Thr) | 3MC syndrome 2 [RCV005417580] | uncertain significance | 2 | 3643798 | 3643798 | Human | 1 | name |
| 14704277 | CV626129 | single nucleotide variant | NM_024027.5(COLEC11):c.433G>A (p.Gly145Ser) | 3MC syndrome 2 [RCV000790996] | uncertain significance | 2 | 3643735 | 3643735 | Human | 1 | name |
| 150405761 | CV1176169 | insertion | NM_024027.5(COLEC11):c.240_241insGA (p.Arg81fs) | 3MC syndrome 2 [RCV005419168]|Inborn genetic diseases [RCV002568957]|not provided [RCV001545004] | pathogenic|uncertain significance | 2 | 3637570 | 3637571 | Human | 2 | name |
| 8568711 | CV39928 | deletion | NM_024027.5(COLEC11):c.648_650del (p.Ser217del) | 3MC syndrome 2 [RCV000023962] | pathogenic | 2 | 3643950 | 3643952 | Human | 1 | name |