| 8568511 | CV39643 | single nucleotide variant | FERMT3, GLY308ARG | LEUKOCYTE ADHESION DEFICIENCY, TYPE III [RCV000023664]|Leukocyte adhesion deficiency, type III [RCV000023664] | pathogenic | | | | Human | | name |
| 127282748 | CV1078432 | single nucleotide variant | NM_031471.6(FERMT3):c.161-6C>T | Leukocyte adhesion deficiency 3 [RCV001411337] | likely benign | 11 | 64210605 | 64210605 | Human | 1 | name |
| 127265120 | CV1078433 | single nucleotide variant | NM_031471.6(FERMT3):c.684-8C>T | Leukocyte adhesion deficiency 3 [RCV001403490] | likely benign | 11 | 64211637 | 64211637 | Human | 1 | name |
| 127284345 | CV1100157 | single nucleotide variant | NM_031471.6(FERMT3):c.161-5C>T | Leukocyte adhesion deficiency 3 [RCV001449343] | likely benign | 11 | 64210606 | 64210606 | Human | 1 | name |
| 127260523 | CV1100161 | single nucleotide variant | NM_031471.6(FERMT3):c.684-9G>A | Leukocyte adhesion deficiency 3 [RCV001438602] | likely benign | 11 | 64211636 | 64211636 | Human | 1 | name |
| 127236689 | CV1100163 | single nucleotide variant | NM_031471.6(FERMT3):c.786+8G>A | Leukocyte adhesion deficiency 3 [RCV001433393] | likely benign | 11 | 64211755 | 64211755 | Human | 1 | name |
| 127327161 | CV1142498 | single nucleotide variant | NM_031471.6(FERMT3):c.786+7C>T | Leukocyte adhesion deficiency 3 [RCV001486240] | likely benign | 11 | 64211754 | 64211754 | Human | 1 | name |
| 127324979 | CV1142499 | single nucleotide variant | NM_031471.6(FERMT3):c.787-7G>A | Leukocyte adhesion deficiency 3 [RCV001505836] | likely benign | 11 | 64219244 | 64219244 | Human | 1 | name |
| 127319538 | CV1156770 | single nucleotide variant | NM_031471.6(FERMT3):c.895-4C>T | Leukocyte adhesion deficiency 3 [RCV001522183]|not provided [RCV001720294] | benign | 11 | 64219520 | 64219520 | Human | 1 | name |
| 151760477 | CV1343233 | single nucleotide variant | NM_031471.6(FERMT3):c.787-8C>A | Leukocyte adhesion deficiency 3 [RCV002024307] | uncertain significance | 11 | 64219243 | 64219243 | Human | 1 | name |
| 151738022 | CV1389937 | single nucleotide variant | NM_031471.6(FERMT3):c.894+9C>T | Leukocyte adhesion deficiency 3 [RCV001892985] | uncertain significance | 11 | 64219367 | 64219367 | Human | 1 | name |
| 152080791 | CV1580083 | single nucleotide variant | NM_031471.6(FERMT3):c.787-8C>G | Leukocyte adhesion deficiency 3 [RCV002076340] | likely benign | 11 | 64219243 | 64219243 | Human | 1 | name |
| 152040071 | CV1592919 | single nucleotide variant | NM_031471.6(FERMT3):c.787-9C>T | Leukocyte adhesion deficiency 3 [RCV002188123] | likely benign | 11 | 64219242 | 64219242 | Human | 1 | name |
| 152033557 | CV1610392 | duplication | NM_031471.6(FERMT3):c.787-8dup | Leukocyte adhesion deficiency 3 [RCV002124954] | benign | 11 | 64219237 | 64219238 | Human | 1 | name |
| 152097658 | CV1616152 | deletion | NM_031471.6(FERMT3):c.787-8del | Leukocyte adhesion deficiency 3 [RCV002132847] | benign | 11 | 64219238 | 64219238 | Human | 1 | name |
| 156126946 | CV1969468 | single nucleotide variant | NM_031471.6(FERMT3):c.894+9C>A | Leukocyte adhesion deficiency 3 [RCV002593346] | likely benign | 11 | 64219367 | 64219367 | Human | 1 | name |
| 155936056 | CV2125698 | single nucleotide variant | NM_031471.6(FERMT3):c.684-1G>A | Leukocyte adhesion deficiency 3 [RCV002970954] | likely pathogenic | 11 | 64211644 | 64211644 | Human | 1 | name |
| 405108182 | CV2928688 | single nucleotide variant | NM_031471.6(FERMT3):c.684-6G>T | Leukocyte adhesion deficiency 3 [RCV003498745] | likely benign | 11 | 64211639 | 64211639 | Human | 1 | name |
| 405003375 | CV2956280 | single nucleotide variant | NM_031471.6(FERMT3):c.515-7A>T | Leukocyte adhesion deficiency 3 [RCV003606066] | benign | 11 | 64211268 | 64211268 | Human | 1 | name |
| 405008870 | CV3042873 | single nucleotide variant | NM_031471.6(FERMT3):c.895-5C>T | Leukocyte adhesion deficiency 3 [RCV003606623] | likely benign | 11 | 64219519 | 64219519 | Human | 1 | name |
| 405234798 | CV3168442 | single nucleotide variant | NM_031471.6(FERMT3):c.786+1G>T | Leukocyte adhesion deficiency 3 [RCV003865916] | likely pathogenic | 11 | 64211748 | 64211748 | Human | 1 | name |
| 597837024 | CV3761429 | single nucleotide variant | NM_031471.6(FERMT3):c.161-7C>T | Leukocyte adhesion deficiency 3 [RCV005085800] | likely benign | 11 | 64210604 | 64210604 | Human | 1 | name |
| 597961076 | CV3812038 | single nucleotide variant | NM_031471.6(FERMT3):c.683+8C>G | Leukocyte adhesion deficiency 3 [RCV005163691] | likely benign | 11 | 64211451 | 64211451 | Human | 1 | name |
| 597957964 | CV3849025 | single nucleotide variant | NM_031471.6(FERMT3):c.515-8C>A | Leukocyte adhesion deficiency 3 [RCV005192026] | likely benign | 11 | 64211267 | 64211267 | Human | 1 | name |
| 8568893 | CV40201 | single nucleotide variant | NM_031471.6(FERMT3):c.161-2A>C | Leukocyte adhesion deficiency 3 [RCV000024239] | pathogenic | 11 | 64210609 | 64210609 | Human | 1 | name |
| 15148802 | CV730779 | single nucleotide variant | NM_031471.6(FERMT3):c.684-5C>G | FERMT3-related disorder [RCV003908378]|Leukocyte adhesion deficiency 3 [RCV000879030] | benign | 11 | 64211640 | 64211640 | Human | 1 | name , trait , alternate_id |
| 15106178 | CV730781 | single nucleotide variant | NM_031471.6(FERMT3):c.787-8C>T | Leukocyte adhesion deficiency 3 [RCV001432771] | likely benign | 11 | 64219243 | 64219243 | Human | 1 | name |
| 15185115 | CV744726 | single nucleotide variant | NM_031471.6(FERMT3):c.515-5T>A | Leukocyte adhesion deficiency 3 [RCV000908439]|not provided [RCV003396540]|not specified [RCV004702516] | likely benign|uncertain significance | 11 | 64211270 | 64211270 | Human | 1 | name |
| 25327772 | CV816319 | single nucleotide variant | NM_031471.6(FERMT3):c.514+4A>G | Leukocyte adhesion deficiency 3 [RCV003224512] | uncertain significance | 11 | 64211175 | 64211175 | Human | 1 | name |
| 38483355 | CV960001 | single nucleotide variant | NM_031471.6(FERMT3):c.683+5A>C | Leukocyte adhesion deficiency 3 [RCV001235890] | uncertain significance | 11 | 64211448 | 64211448 | Human | 1 | name |
| 127231383 | CV1078435 | single nucleotide variant | NM_031471.6(FERMT3):c.894+10G>A | Leukocyte adhesion deficiency 3 [RCV001413083] | likely benign | 11 | 64219368 | 64219368 | Human | 1 | name |
| 127259425 | CV1078437 | single nucleotide variant | NM_031471.6(FERMT3):c.1030-9C>G | Leukocyte adhesion deficiency 3 [RCV001419797] | likely benign | 11 | 64219731 | 64219731 | Human | 1 | name |
| 127257506 | CV1078439 | single nucleotide variant | NM_031471.6(FERMT3):c.1079+8G>T | Leukocyte adhesion deficiency 3 [RCV001419316] | likely benign | 11 | 64219797 | 64219797 | Human | 1 | name |
| 127282185 | CV1078441 | single nucleotide variant | NM_031471.6(FERMT3):c.1312-6G>A | Leukocyte adhesion deficiency 3 [RCV001410981] | likely benign | 11 | 64220430 | 64220430 | Human | 1 | name |
| 127254957 | CV1100160 | single nucleotide variant | NM_031471.6(FERMT3):c.683+20C>T | Leukocyte adhesion deficiency 3 [RCV001426406] | likely benign | 11 | 64211463 | 64211463 | Human | 1 | name |
| 127278834 | CV1100166 | single nucleotide variant | NM_031471.6(FERMT3):c.1080-5C>T | Leukocyte adhesion deficiency 3 [RCV001445354]|not specified [RCV002509683] | likely benign|uncertain significance | 11 | 64219886 | 64219886 | Human | 1 | name |
| 127302488 | CV1121661 | single nucleotide variant | NM_031471.6(FERMT3):c.395-10C>T | Leukocyte adhesion deficiency 3 [RCV001454454] | likely benign | 11 | 64211042 | 64211042 | Human | 1 | name |
| 127321085 | CV1121663 | single nucleotide variant | NM_031471.6(FERMT3):c.683+18G>A | Leukocyte adhesion deficiency 3 [RCV001467140]|not specified [RCV003388018] | likely benign | 11 | 64211461 | 64211461 | Human | 1 | name |
| 127308863 | CV1121665 | single nucleotide variant | NM_031471.6(FERMT3):c.895-19T>C | Leukocyte adhesion deficiency 3 [RCV001463405] | likely benign | 11 | 64219505 | 64219505 | Human | 1 | name |
| 127306415 | CV1121668 | single nucleotide variant | NM_031471.6(FERMT3):c.1312-7C>T | Leukocyte adhesion deficiency 3 [RCV001462776] | likely benign | 11 | 64220429 | 64220429 | Human | 1 | name |
| 127312888 | CV1156768 | single nucleotide variant | NM_031471.6(FERMT3):c.161-11G>A | Leukocyte adhesion deficiency 3 [RCV001519095] | benign | 11 | 64210600 | 64210600 | Human | 1 | name |
| 151739018 | CV1437525 | single nucleotide variant | NM_031471.6(FERMT3):c.1545+5C>T | Leukocyte adhesion deficiency 3 [RCV001870832] | uncertain significance | 11 | 64220674 | 64220674 | Human | 1 | name |
| 152117602 | CV1522134 | single nucleotide variant | NM_031471.6(FERMT3):c.894+16G>A | Leukocyte adhesion deficiency 3 [RCV002081105] | likely benign | 11 | 64219374 | 64219374 | Human | 1 | name |
| 152161395 | CV1534740 | single nucleotide variant | NM_031471.6(FERMT3):c.787-12C>T | Leukocyte adhesion deficiency 3 [RCV002140982] | likely benign | 11 | 64219239 | 64219239 | Human | 1 | name |
| 152133615 | CV1545032 | single nucleotide variant | NM_031471.6(FERMT3):c.1311+9G>A | Leukocyte adhesion deficiency 3 [RCV002177131] | likely benign | 11 | 64220335 | 64220335 | Human | 1 | name |
| 152149624 | CV1545424 | single nucleotide variant | NM_031471.6(FERMT3):c.160+17C>G | Leukocyte adhesion deficiency 3 [RCV002121559] | likely benign | 11 | 64207541 | 64207541 | Human | 1 | name |
| 152154996 | CV1556696 | single nucleotide variant | NM_031471.6(FERMT3):c.161-12C>T | Leukocyte adhesion deficiency 3 [RCV002122297] | likely benign | 11 | 64210599 | 64210599 | Human | 1 | name |
| 152164189 | CV1560518 | single nucleotide variant | NM_031471.6(FERMT3):c.394+12G>A | Leukocyte adhesion deficiency 3 [RCV002160198] | likely benign | 11 | 64210856 | 64210856 | Human | 1 | name |
| 152110756 | CV1564103 | single nucleotide variant | NM_031471.6(FERMT3):c.160+11G>A | Leukocyte adhesion deficiency 3 [RCV002174303] | likely benign | 11 | 64207535 | 64207535 | Human | 1 | name |
| 152084772 | CV1622940 | single nucleotide variant | NM_031471.6(FERMT3):c.683+19C>G | Leukocyte adhesion deficiency 3 [RCV002113236] | likely benign | 11 | 64211462 | 64211462 | Human | 1 | name |
| 152135806 | CV1624610 | single nucleotide variant | NM_031471.6(FERMT3):c.1205-7C>T | Leukocyte adhesion deficiency 3 [RCV002177401] | likely benign | 11 | 64220213 | 64220213 | Human | 1 | name |
| 152089351 | CV1654654 | single nucleotide variant | NM_031471.6(FERMT3):c.683+17C>G | Leukocyte adhesion deficiency 3 [RCV002212508] | likely benign | 11 | 64211460 | 64211460 | Human | 1 | name |
| 8556964 | CV17747 | single nucleotide variant | NM_031471.6(FERMT3):c.1671-2A>G | Leukocyte adhesion deficiency 3 [RCV000002827] | pathogenic | 11 | 64223046 | 64223046 | Human | 1 | name |
| 156257725 | CV1875462 | single nucleotide variant | NM_031471.6(FERMT3):c.1029+6G>T | Leukocyte adhesion deficiency 3 [RCV003060248] | uncertain significance | 11 | 64219664 | 64219664 | Human | 1 | name |
| 156363547 | CV1881526 | single nucleotide variant | NM_031471.6(FERMT3):c.786+18G>A | Leukocyte adhesion deficiency 3 [RCV003065795] | likely benign | 11 | 64211765 | 64211765 | Human | 1 | name |
| 156329268 | CV1887593 | single nucleotide variant | NM_031471.6(FERMT3):c.514+20G>A | Leukocyte adhesion deficiency 3 [RCV003089691] | likely benign | 11 | 64211191 | 64211191 | Human | 1 | name |
| 156405007 | CV1919145 | single nucleotide variant | NM_031471.6(FERMT3):c.394+19T>G | Leukocyte adhesion deficiency 3 [RCV002585553] | likely benign | 11 | 64210863 | 64210863 | Human | 1 | name |
| 156449445 | CV1945046 | single nucleotide variant | NM_031471.6(FERMT3):c.894+20G>A | Leukocyte adhesion deficiency 3 [RCV003121567] | likely benign | 11 | 64219378 | 64219378 | Human | 1 | name |
| 156227757 | CV1958932 | single nucleotide variant | NM_031471.6(FERMT3):c.514+15G>A | Leukocyte adhesion deficiency 3 [RCV002596691] | likely benign | 11 | 64211186 | 64211186 | Human | 1 | name |
| 156319413 | CV1971665 | single nucleotide variant | NM_031471.6(FERMT3):c.1205-3C>T | Leukocyte adhesion deficiency 3 [RCV002630246] | uncertain significance | 11 | 64220217 | 64220217 | Human | 1 | name |
| 155948848 | CV2069007 | single nucleotide variant | NM_031471.6(FERMT3):c.1311+6T>G | Leukocyte adhesion deficiency 3 [RCV002862234] | uncertain significance | 11 | 64220332 | 64220332 | Human | 1 | name |
| 156223680 | CV2115252 | single nucleotide variant | NM_031471.6(FERMT3):c.161-20T>C | Leukocyte adhesion deficiency 3 [RCV002932557] | likely benign | 11 | 64210591 | 64210591 | Human | 1 | name |
| 156157747 | CV2140549 | single nucleotide variant | NM_031471.6(FERMT3):c.394+11C>T | Leukocyte adhesion deficiency 3 [RCV003004947] | likely benign | 11 | 64210855 | 64210855 | Human | 1 | name |
| 156004300 | CV2166611 | single nucleotide variant | NM_031471.6(FERMT3):c.515-10T>G | Leukocyte adhesion deficiency 3 [RCV003017420] | likely benign | 11 | 64211265 | 64211265 | Human | 1 | name |
| 405109543 | CV2871714 | single nucleotide variant | NM_031471.6(FERMT3):c.514+13G>T | Leukocyte adhesion deficiency 3 [RCV003499036] | likely benign | 11 | 64211184 | 64211184 | Human | 1 | name |
| 405106987 | CV2909806 | single nucleotide variant | NM_031471.6(FERMT3):c.787-10C>T | Leukocyte adhesion deficiency 3 [RCV003498455] | likely benign | 11 | 64219241 | 64219241 | Human | 1 | name |
| 405003243 | CV2955711 | single nucleotide variant | NM_031471.6(FERMT3):c.1812+8C>T | Leukocyte adhesion deficiency 3 [RCV003606049] | likely benign | 11 | 64223197 | 64223197 | Human | 1 | name |
| 405009292 | CV3044425 | single nucleotide variant | NM_031471.6(FERMT3):c.514+17G>A | Leukocyte adhesion deficiency 3 [RCV003606695] | likely benign | 11 | 64211188 | 64211188 | Human | 1 | name |
| 405011087 | CV3064828 | single nucleotide variant | NM_031471.6(FERMT3):c.161-16C>T | Leukocyte adhesion deficiency 3 [RCV003606849] | likely benign | 11 | 64210595 | 64210595 | Human | 1 | name |
| 405117243 | CV3115896 | single nucleotide variant | NM_031471.6(FERMT3):c.515-16C>G | Leukocyte adhesion deficiency 3 [RCV003814386] | likely benign | 11 | 64211259 | 64211259 | Human | 1 | name |
| 405234965 | CV3168545 | single nucleotide variant | NM_031471.6(FERMT3):c.786+16G>A | Leukocyte adhesion deficiency 3 [RCV003866019] | likely benign | 11 | 64211763 | 64211763 | Human | 1 | name |
| 597857613 | CV3755749 | single nucleotide variant | NM_031471.6(FERMT3):c.394+20C>G | Leukocyte adhesion deficiency 3 [RCV005088900] | likely benign | 11 | 64210864 | 64210864 | Human | 1 | name |
| 597847798 | CV3762086 | single nucleotide variant | NM_031471.6(FERMT3):c.787-13C>T | Leukocyte adhesion deficiency 3 [RCV005087504] | likely benign | 11 | 64219238 | 64219238 | Human | 1 | name |
| 597914706 | CV3778895 | single nucleotide variant | NM_031471.6(FERMT3):c.1030-7C>T | Leukocyte adhesion deficiency 3 [RCV005129240] | likely benign | 11 | 64219733 | 64219733 | Human | 1 | name |
| 597959120 | CV3797482 | single nucleotide variant | NM_031471.6(FERMT3):c.1204+1G>T | Leukocyte adhesion deficiency 3 [RCV005138169] | likely pathogenic | 11 | 64220016 | 64220016 | Human | 1 | name |
| 597861188 | CV3813495 | single nucleotide variant | NM_031471.6(FERMT3):c.515-11C>G | Leukocyte adhesion deficiency 3 [RCV005146757] | likely benign | 11 | 64211264 | 64211264 | Human | 1 | name |
| 597976277 | CV3829299 | single nucleotide variant | NM_031471.6(FERMT3):c.683+17C>T | Leukocyte adhesion deficiency 3 [RCV005169748] | likely benign | 11 | 64211460 | 64211460 | Human | 1 | name |
| 12896463 | CV390006 | single nucleotide variant | NM_031471.6(FERMT3):c.787-10C>A | Leukocyte adhesion deficiency 3 [RCV001518718]|not provided [RCV001707692]|not specified [RCV000455375] | benign | 11 | 64219241 | 64219241 | Human | 1 | name |
| 12895972 | CV390075 | single nucleotide variant | NM_031471.6(FERMT3):c.161-16C>G | Leukocyte adhesion deficiency 3 [RCV001515579]|not provided [RCV001683490]|not specified [RCV000454704] | benign | 11 | 64210595 | 64210595 | Human | 1 | name |
| 13619464 | CV526570 | single nucleotide variant | NM_031471.6(FERMT3):c.684-10C>G | Leukocyte adhesion deficiency 3 [RCV000646736] | benign | 11 | 64211635 | 64211635 | Human | 1 | name |
| 13619468 | CV526571 | single nucleotide variant | NM_031471.6(FERMT3):c.1080-4G>A | Leukocyte adhesion deficiency 3 [RCV001425618] | likely benign | 11 | 64219887 | 64219887 | Human | 1 | name |
| 14730917 | CV652554 | single nucleotide variant | NM_031471.6(FERMT3):c.1029+2T>C | Leukocyte adhesion deficiency 3 [RCV000801162] | pathogenic | 11 | 64219660 | 64219660 | Human | 1 | name |
| 15186318 | CV730780 | single nucleotide variant | NM_031471.6(FERMT3):c.786+10G>T | Leukocyte adhesion deficiency 3 [RCV000886942] | likely benign | 11 | 64211757 | 64211757 | Human | 1 | name |
| 15201894 | CV760075 | single nucleotide variant | NM_031471.6(FERMT3):c.160+10C>T | Leukocyte adhesion deficiency 3 [RCV000913278] | likely benign | 11 | 64207534 | 64207534 | Human | 1 | name |
| 15142589 | CV760079 | single nucleotide variant | NM_031471.6(FERMT3):c.684-10C>T | Leukocyte adhesion deficiency 3 [RCV000922046] | likely benign | 11 | 64211635 | 64211635 | Human | 1 | name |
| 15115967 | CV775863 | single nucleotide variant | NM_031471.6(FERMT3):c.1546-5C>T | Leukocyte adhesion deficiency 3 [RCV001442206] | likely benign | 11 | 64221011 | 64221011 | Human | 1 | name |
| 15182624 | CV779700 | single nucleotide variant | NM_031471.6(FERMT3):c.1546-6C>T | Leukocyte adhesion deficiency 3 [RCV000974677] | likely benign | 11 | 64221010 | 64221010 | Human | 1 | name |
| 38481681 | CV941004 | single nucleotide variant | NM_031471.6(FERMT3):c.1312-2A>C | Leukocyte adhesion deficiency 3 [RCV001218117] | likely pathogenic | 11 | 64220434 | 64220434 | Human | 1 | name |
| 38497160 | CV960753 | single nucleotide variant | NM_031471.6(FERMT3):c.1030-3T>C | Leukocyte adhesion deficiency 3 [RCV001243005] | uncertain significance | 11 | 64219737 | 64219737 | Human | 1 | name |
| 127271111 | CV1100170 | single nucleotide variant | NM_031471.6(FERMT3):c.1813-13G>A | Leukocyte adhesion deficiency 3 [RCV001441704] | likely benign | 11 | 64223300 | 64223300 | Human | 1 | name |
| 127307317 | CV1142504 | single nucleotide variant | NM_031471.6(FERMT3):c.1813-17C>T | Leukocyte adhesion deficiency 3 [RCV001500430] | likely benign | 11 | 64223296 | 64223296 | Human | 1 | name |
| 127313741 | CV1156771 | single nucleotide variant | NM_031471.6(FERMT3):c.1030-12G>C | Leukocyte adhesion deficiency 3 [RCV001519358] | benign | 11 | 64219728 | 64219728 | Human | 1 | name |
| 127304281 | CV1156774 | single nucleotide variant | NM_031471.6(FERMT3):c.1671-15C>G | Leukocyte adhesion deficiency 3 [RCV001515818]|not provided [RCV001720291] | benign | 11 | 64223033 | 64223033 | Human | 1 | name |
| 150477698 | CV1218663 | single nucleotide variant | NM_031471.6(FERMT3):c.1205-51A>T | not provided [RCV001616290] | benign | 11 | 64220169 | 64220169 | Human | | name |
| 150460666 | CV1234672 | single nucleotide variant | NM_031471.6(FERMT3):c.1545+58C>T | not provided [RCV001649254] | benign | 11 | 64220727 | 64220727 | Human | | name |
| 150512106 | CV1284865 | single nucleotide variant | NM_031471.6(FERMT3):c.161-136C>T | not provided [RCV001721734] | benign | 11 | 64210475 | 64210475 | Human | | name |
| 151817354 | CV1337422 | single nucleotide variant | NM_031471.6(FERMT3):c.1546-12A>G | Leukocyte adhesion deficiency 3 [RCV001919221] | likely benign | 11 | 64221004 | 64221004 | Human | 1 | name |
| 151718642 | CV1509653 | single nucleotide variant | NM_031471.6(FERMT3):c.1545+12C>T | Leukocyte adhesion deficiency 3 [RCV001890733] | likely benign|uncertain significance | 11 | 64220681 | 64220681 | Human | 1 | name |
| 152058827 | CV1535970 | single nucleotide variant | NM_031471.6(FERMT3):c.1029+18G>A | Leukocyte adhesion deficiency 3 [RCV002146542] | likely benign | 11 | 64219676 | 64219676 | Human | 1 | name |
| 152081897 | CV1551783 | single nucleotide variant | NM_031471.6(FERMT3):c.1029+19C>G | Leukocyte adhesion deficiency 3 [RCV002092957] | likely benign | 11 | 64219677 | 64219677 | Human | 1 | name |
| 152044832 | CV1556017 | single nucleotide variant | NM_031471.6(FERMT3):c.1030-20T>C | Leukocyte adhesion deficiency 3 [RCV002206805] | likely benign | 11 | 64219720 | 64219720 | Human | 1 | name |
| 152040168 | CV1592976 | single nucleotide variant | NM_031471.6(FERMT3):c.1671-14T>C | Leukocyte adhesion deficiency 3 [RCV002188138] | benign | 11 | 64223034 | 64223034 | Human | 1 | name |
| 152069907 | CV1600981 | single nucleotide variant | NM_031471.6(FERMT3):c.1080-17C>T | Leukocyte adhesion deficiency 3 [RCV002091444] | likely benign | 11 | 64219874 | 64219874 | Human | 1 | name |
| 152066567 | CV1601680 | single nucleotide variant | NM_031471.6(FERMT3):c.1670+10C>T | Leukocyte adhesion deficiency 3 [RCV002168739] | likely benign | 11 | 64221150 | 64221150 | Human | 1 | name |
| 152083019 | CV1608183 | single nucleotide variant | NM_031471.6(FERMT3):c.1080-15C>T | Leukocyte adhesion deficiency 3 [RCV002193270] | likely benign | 11 | 64219876 | 64219876 | Human | 1 | name |
| 152073029 | CV1637929 | single nucleotide variant | NM_031471.6(FERMT3):c.1205-16C>T | Leukocyte adhesion deficiency 3 [RCV002192044] | likely benign | 11 | 64220204 | 64220204 | Human | 1 | name |
| 152040592 | CV1644625 | single nucleotide variant | NM_031471.6(FERMT3):c.1812+12C>T | Leukocyte adhesion deficiency 3 [RCV002165630] | likely benign | 11 | 64223201 | 64223201 | Human | 1 | name |
| 152125614 | CV1646206 | single nucleotide variant | NM_031471.6(FERMT3):c.1812+18G>A | Leukocyte adhesion deficiency 3 [RCV002217360] | likely benign | 11 | 64223207 | 64223207 | Human | 1 | name |
| 152048518 | CV1655975 | single nucleotide variant | NM_031471.6(FERMT3):c.1545+13G>A | Leukocyte adhesion deficiency 3 [RCV002207216] | benign | 11 | 64220682 | 64220682 | Human | 1 | name |
| 152060752 | CV1659738 | single nucleotide variant | NM_031471.6(FERMT3):c.1029+14C>T | Leukocyte adhesion deficiency 3 [RCV002073646] | benign | 11 | 64219672 | 64219672 | Human | 1 | name |
| 156403796 | CV1871894 | single nucleotide variant | NM_031471.6(FERMT3):c.1545+14T>C | Leukocyte adhesion deficiency 3 [RCV003052685] | likely benign | 11 | 64220683 | 64220683 | Human | 1 | name |
| 156391142 | CV1872784 | single nucleotide variant | NM_031471.6(FERMT3):c.1080-16C>G | Leukocyte adhesion deficiency 3 [RCV003051331] | likely benign | 11 | 64219875 | 64219875 | Human | 1 | name |
| 156028061 | CV1906885 | single nucleotide variant | NM_031471.6(FERMT3):c.1670+19C>A | Leukocyte adhesion deficiency 3 [RCV003100519] | likely benign | 11 | 64221159 | 64221159 | Human | 1 | name |
| 156381826 | CV1960907 | single nucleotide variant | NM_031471.6(FERMT3):c.1029+20A>G | Leukocyte adhesion deficiency 3 [RCV002583227] | likely benign | 11 | 64219678 | 64219678 | Human | 1 | name |
| 156399268 | CV1984839 | single nucleotide variant | NM_031471.6(FERMT3):c.1029+11G>C | Leukocyte adhesion deficiency 3 [RCV002605444] | likely benign | 11 | 64219669 | 64219669 | Human | 1 | name |
| 156306096 | CV2079800 | single nucleotide variant | NM_031471.6(FERMT3):c.1812+13C>A | Leukocyte adhesion deficiency 3 [RCV002857413] | likely benign | 11 | 64223202 | 64223202 | Human | 1 | name |
| 156018944 | CV2151643 | single nucleotide variant | NM_031471.6(FERMT3):c.1030-16T>G | Leukocyte adhesion deficiency 3 [RCV003018133] | likely benign | 11 | 64219724 | 64219724 | Human | 1 | name |
| 405105013 | CV2857212 | single nucleotide variant | NM_031471.6(FERMT3):c.1312-18C>T | Leukocyte adhesion deficiency 3 [RCV003498022] | likely benign | 11 | 64220418 | 64220418 | Human | 1 | name |
| 405109739 | CV2879114 | single nucleotide variant | NM_031471.6(FERMT3):c.1079+10G>T | Leukocyte adhesion deficiency 3 [RCV003499072] | likely benign | 11 | 64219799 | 64219799 | Human | 1 | name |
| 405108197 | CV2928753 | single nucleotide variant | NM_031471.6(FERMT3):c.1311+10G>A | Leukocyte adhesion deficiency 3 [RCV003498748] | likely benign | 11 | 64220336 | 64220336 | Human | 1 | name |
| 405003252 | CV2955813 | single nucleotide variant | NM_031471.6(FERMT3):c.1080-12C>T | Leukocyte adhesion deficiency 3 [RCV003606050] | likely benign | 11 | 64219879 | 64219879 | Human | 1 | name |
| 405005264 | CV2980809 | deletion | NM_031471.6(FERMT3):c.1312-11del | Leukocyte adhesion deficiency 3 [RCV003606257] | benign | 11 | 64220422 | 64220422 | Human | 1 | name |
| 405007629 | CV3001573 | single nucleotide variant | NM_031471.6(FERMT3):c.1080-18C>A | Leukocyte adhesion deficiency 3 [RCV003606491] | likely benign | 11 | 64219873 | 64219873 | Human | 1 | name |
| 405009392 | CV3047702 | single nucleotide variant | NM_031471.6(FERMT3):c.1030-12G>A | Leukocyte adhesion deficiency 3 [RCV003606705] | likely benign | 11 | 64219728 | 64219728 | Human | 1 | name |
| 405009763 | CV3055730 | single nucleotide variant | NM_031471.6(FERMT3):c.1545+17G>C | Leukocyte adhesion deficiency 3 [RCV003606743] | likely benign | 11 | 64220686 | 64220686 | Human | 1 | name |
| 405010682 | CV3057208 | single nucleotide variant | NM_031471.6(FERMT3):c.1671-19C>G | Leukocyte adhesion deficiency 3 [RCV003606809] | likely benign | 11 | 64223029 | 64223029 | Human | 1 | name |
| 405011642 | CV3078329 | single nucleotide variant | NM_031471.6(FERMT3):c.1671-18T>A | Leukocyte adhesion deficiency 3 [RCV003606907] | likely benign | 11 | 64223030 | 64223030 | Human | 1 | name |
| 405184464 | CV3147974 | duplication | NM_031471.6(FERMT3):c.1311+11dup | Leukocyte adhesion deficiency 3 [RCV003842684] | likely benign | 11 | 64220334 | 64220335 | Human | 1 | name |
| 402476913 | CV3173882 | single nucleotide variant | NM_031471.6(FERMT3):c.1312-13C>T | Leukocyte adhesion deficiency 3 [RCV003875420] | likely benign | 11 | 64220423 | 64220423 | Human | 1 | name |
| 597919044 | CV3737918 | single nucleotide variant | NM_031471.6(FERMT3):c.1671-17C>G | Leukocyte adhesion deficiency 3 [RCV005074517] | likely benign | 11 | 64223031 | 64223031 | Human | 1 | name |
| 597842010 | CV3752933 | single nucleotide variant | NM_031471.6(FERMT3):c.1546-15A>G | Leukocyte adhesion deficiency 3 [RCV005086662] | likely benign | 11 | 64221001 | 64221001 | Human | 1 | name |
| 597882872 | CV3784164 | single nucleotide variant | NM_031471.6(FERMT3):c.1545+18G>T | Leukocyte adhesion deficiency 3 [RCV005124452] | likely benign | 11 | 64220687 | 64220687 | Human | 1 | name |
| 597948982 | CV3818454 | single nucleotide variant | NM_031471.6(FERMT3):c.1079+11G>T | Leukocyte adhesion deficiency 3 [RCV005160715] | likely benign | 11 | 64219800 | 64219800 | Human | 1 | name |
| 12896934 | CV390077 | single nucleotide variant | NM_031471.6(FERMT3):c.1080-24C>T | not provided [RCV001675898]|not specified [RCV000456019] | benign | 11 | 64219867 | 64219867 | Human | | name |
| 15139746 | CV775860 | single nucleotide variant | NM_031471.6(FERMT3):c.1545+10G>A | Leukocyte adhesion deficiency 3 [RCV000943603] | likely benign | 11 | 64220679 | 64220679 | Human | 1 | name |
| 150440869 | CV1266984 | single nucleotide variant | NM_031471.6(FERMT3):c.1671-218G>A | not provided [RCV001690420] | benign | 11 | 64222830 | 64222830 | Human | | name |
| 150512137 | CV1284872 | single nucleotide variant | NM_031471.6(FERMT3):c.1546-148G>A | not provided [RCV001721741] | benign | 11 | 64220868 | 64220868 | Human | | name |
| 597948865 | CV3818422 | deletion | NM_031471.6(FERMT3):c.787-14_788del | Leukocyte adhesion deficiency 3 [RCV005160683] | likely pathogenic | 11 | 64219236 | 64219251 | Human | 1 | name |
| 127258829 | CV1100156 | single nucleotide variant | NM_031471.6(FERMT3):c.6G>A (p.Ala2=) | Leukocyte adhesion deficiency 3 [RCV001438241] | likely benign | 11 | 64207370 | 64207370 | Human | 1 | name |
| 405003283 | CV2962595 | deletion | NM_031471.6(FERMT3):c.1671-4_1671del | Leukocyte adhesion deficiency 3 [RCV003606055] | likely pathogenic | 11 | 64223042 | 64223046 | Human | 1 | name |
| 405012161 | CV3076567 | single nucleotide variant | NM_031471.6(FERMT3):c.9G>A (p.Gly3=) | Leukocyte adhesion deficiency 3 [RCV003606959] | likely benign | 11 | 64207373 | 64207373 | Human | 1 | name |
| 151857784 | CV1402082 | single nucleotide variant | NM_031471.6(FERMT3):c.27G>T (p.Gly9=) | Leukocyte adhesion deficiency 3 [RCV002017392] | likely benign|uncertain significance | 11 | 64207391 | 64207391 | Human | 1 | name |
| 152164497 | CV1625369 | single nucleotide variant | NM_031471.6(FERMT3):c.24C>T (p.Ser8=) | Leukocyte adhesion deficiency 3 [RCV002160260] | likely benign | 11 | 64207388 | 64207388 | Human | 1 | name |
| 405010789 | CV3060904 | single nucleotide variant | NM_031471.6(FERMT3):c.18A>G (p.Thr6=) | Leukocyte adhesion deficiency 3 [RCV003606820] | likely benign | 11 | 64207382 | 64207382 | Human | 1 | name |
| 405293073 | CV3207182 | single nucleotide variant | NM_031471.6(FERMT3):c.27G>A (p.Gly9=) | FERMT3-related disorder [RCV003931585] | likely benign | 11 | 64207391 | 64207391 | Human | | name , trait , alternate_id |
| 127257670 | CV1078427 | single nucleotide variant | NM_031471.6(FERMT3):c.75G>A (p.Glu25=) | Leukocyte adhesion deficiency 3 [RCV001401523] | likely benign | 11 | 64207439 | 64207439 | Human | 1 | name |
| 127276801 | CV1078428 | single nucleotide variant | NM_031471.6(FERMT3):c.93G>A (p.Ser31=) | Leukocyte adhesion deficiency 3 [RCV001407334] | likely benign | 11 | 64207457 | 64207457 | Human | 1 | name |
| 127294368 | CV1121659 | single nucleotide variant | NM_031471.6(FERMT3):c.42G>A (p.Ser14=) | Leukocyte adhesion deficiency 3 [RCV001452225] | likely benign | 11 | 64207406 | 64207406 | Human | 1 | name |
| 150540540 | CV1314665 | single nucleotide variant | NM_031471.6(FERMT3):c.2T>C (p.Met1Thr) | Leukocyte adhesion deficiency 3 [RCV001781098] | likely pathogenic | 11 | 64207366 | 64207366 | Human | | name |
| 156355745 | CV1894852 | single nucleotide variant | NM_031471.6(FERMT3):c.45A>G (p.Ser15=) | Leukocyte adhesion deficiency 3 [RCV003091338] | likely benign | 11 | 64207409 | 64207409 | Human | 1 | name |
| 156248106 | CV1969633 | single nucleotide variant | NM_031471.6(FERMT3):c.2T>G (p.Met1Arg) | Leukocyte adhesion deficiency 3 [RCV002597377] | uncertain significance | 11 | 64207366 | 64207366 | Human | 1 | name |
| 405109217 | CV2874863 | single nucleotide variant | NM_031471.6(FERMT3):c.90G>A (p.Glu30=) | Leukocyte adhesion deficiency 3 [RCV003498974] | likely benign | 11 | 64207454 | 64207454 | Human | 1 | name |
| 405010465 | CV3056835 | single nucleotide variant | NM_031471.6(FERMT3):c.36C>T (p.Ile12=) | Leukocyte adhesion deficiency 3 [RCV003606786] | likely benign | 11 | 64207400 | 64207400 | Human | 1 | name |
| 405194771 | CV3167691 | single nucleotide variant | NM_031471.6(FERMT3):c.87C>T (p.Ala29=) | Leukocyte adhesion deficiency 3 [RCV003860097] | likely benign | 11 | 64207451 | 64207451 | Human | 1 | name |
| 597854648 | CV3825097 | single nucleotide variant | NM_031471.6(FERMT3):c.84G>A (p.Glu28=) | Leukocyte adhesion deficiency 3 [RCV005173945] | likely benign | 11 | 64207448 | 64207448 | Human | 1 | name |
| 38456036 | CV935650 | single nucleotide variant | NM_031471.6(FERMT3):c.5C>T (p.Ala2Val) | Leukocyte adhesion deficiency 3 [RCV001210681] | uncertain significance | 11 | 64207369 | 64207369 | Human | 1 | name |
| 127272167 | CV1078429 | single nucleotide variant | NM_031471.6(FERMT3):c.126C>T (p.Ile42=) | Leukocyte adhesion deficiency 3 [RCV001405639] | likely benign | 11 | 64207490 | 64207490 | Human | 1 | name |
| 127263776 | CV1078430 | single nucleotide variant | NM_031471.6(FERMT3):c.144G>A (p.Lys48=) | Leukocyte adhesion deficiency 3 [RCV001403085] | likely benign | 11 | 64207508 | 64207508 | Human | 1 | name |
| 127290817 | CV1121660 | single nucleotide variant | NM_031471.6(FERMT3):c.120G>A (p.Ser40=) | Leukocyte adhesion deficiency 3 [RCV001451349] | likely benign | 11 | 64207484 | 64207484 | Human | 1 | name |
| 127335404 | CV1142496 | single nucleotide variant | NM_031471.6(FERMT3):c.264C>T (p.Asp88=) | Leukocyte adhesion deficiency 3 [RCV001491523] | likely benign | 11 | 64210714 | 64210714 | Human | 1 | name |
| 152127531 | CV1554236 | single nucleotide variant | NM_031471.6(FERMT3):c.219G>A (p.Leu73=) | Leukocyte adhesion deficiency 3 [RCV002176364] | likely benign | 11 | 64210669 | 64210669 | Human | 1 | name |
| 152083756 | CV1554778 | single nucleotide variant | NM_031471.6(FERMT3):c.138C>G (p.Leu46=) | Leukocyte adhesion deficiency 3 [RCV002211764] | likely benign | 11 | 64207502 | 64207502 | Human | 1 | name |
| 152102587 | CV1579066 | single nucleotide variant | NM_031471.6(FERMT3):c.129C>T (p.Gly43=) | Leukocyte adhesion deficiency 3 [RCV002079183] | likely benign | 11 | 64207493 | 64207493 | Human | 1 | name |
| 405007228 | CV2990641 | single nucleotide variant | NM_031471.6(FERMT3):c.294G>A (p.Arg98=) | Leukocyte adhesion deficiency 3 [RCV003606446] | likely benign | 11 | 64210744 | 64210744 | Human | 1 | name |
| 404997620 | CV3012777 | single nucleotide variant | NM_031471.6(FERMT3):c.273C>T (p.Leu91=) | Leukocyte adhesion deficiency 3 [RCV003605247] | likely benign | 11 | 64210723 | 64210723 | Human | 1 | name |
| 405000700 | CV3036074 | single nucleotide variant | NM_031471.6(FERMT3):c.100C>T (p.Leu34=) | Leukocyte adhesion deficiency 3 [RCV003605601] | likely benign | 11 | 64207464 | 64207464 | Human | 1 | name |
| 405009989 | CV3049270 | single nucleotide variant | NM_031471.6(FERMT3):c.258G>A (p.Leu86=) | Leukocyte adhesion deficiency 3 [RCV003606765] | likely benign | 11 | 64210708 | 64210708 | Human | 1 | name |
| 405009726 | CV3050675 | single nucleotide variant | NM_031471.6(FERMT3):c.111T>C (p.Thr37=) | Leukocyte adhesion deficiency 3 [RCV003606680] | likely benign | 11 | 64207475 | 64207475 | Human | 1 | name |
| 405136268 | CV3164338 | single nucleotide variant | NM_031471.6(FERMT3):c.228C>T (p.Thr76=) | Leukocyte adhesion deficiency 3 [RCV003855133] | likely benign | 11 | 64210678 | 64210678 | Human | 1 | name |
| 597864623 | CV3814250 | single nucleotide variant | NM_031471.6(FERMT3):c.258G>C (p.Leu86=) | Leukocyte adhesion deficiency 3 [RCV005147319] | likely benign | 11 | 64210708 | 64210708 | Human | 1 | name |
| 15185180 | CV738093 | single nucleotide variant | NM_031471.6(FERMT3):c.249C>T (p.Tyr83=) | FERMT3-related disorder [RCV003902842]|Leukocyte adhesion deficiency 3 [RCV000908457] | benign|likely benign | 11 | 64210699 | 64210699 | Human | 1 | name , trait , alternate_id |
| 15161093 | CV752755 | single nucleotide variant | NM_031471.6(FERMT3):c.138C>T (p.Leu46=) | not provided [RCV000925616] | likely benign | 11 | 64207502 | 64207502 | Human | | name |
| 26893629 | CV838679 | single nucleotide variant | NM_031471.6(FERMT3):c.25G>A (p.Gly9Arg) | Leukocyte adhesion deficiency 3 [RCV001047380] | uncertain significance | 11 | 64207389 | 64207389 | Human | 1 | name |
| 126914819 | CV1047348 | single nucleotide variant | NM_031471.6(FERMT3):c.56G>T (p.Arg19Leu) | Leukocyte adhesion deficiency 3 [RCV001359675] | uncertain significance | 11 | 64207420 | 64207420 | Human | 1 | name |
| 127233126 | CV1078434 | single nucleotide variant | NM_031471.6(FERMT3):c.699G>T (p.Ser233=) | Leukocyte adhesion deficiency 3 [RCV001413757] | likely benign | 11 | 64211660 | 64211660 | Human | 1 | name |
| 127255975 | CV1078436 | single nucleotide variant | NM_031471.6(FERMT3):c.930G>T (p.Val310=) | Leukocyte adhesion deficiency 3 [RCV001401163] | likely benign | 11 | 64219559 | 64219559 | Human | 1 | name |
| 127246755 | CV1100158 | single nucleotide variant | NM_031471.6(FERMT3):c.421C>T (p.Leu141=) | Leukocyte adhesion deficiency 3 [RCV001424565] | likely benign | 11 | 64211078 | 64211078 | Human | 1 | name |
| 127281933 | CV1100159 | single nucleotide variant | NM_031471.6(FERMT3):c.432T>G (p.Ala144=) | Leukocyte adhesion deficiency 3 [RCV001447499] | likely benign | 11 | 64211089 | 64211089 | Human | 1 | name |
| 127247771 | CV1100162 | single nucleotide variant | NM_031471.6(FERMT3):c.735C>T (p.Asp245=) | Leukocyte adhesion deficiency 3 [RCV001424794]|not provided [RCV004706131] | likely benign | 11 | 64211696 | 64211696 | Human | 1 | name |
| 127248190 | CV1100164 | single nucleotide variant | NM_031471.6(FERMT3):c.795C>T (p.Pro265=) | Leukocyte adhesion deficiency 3 [RCV001424882] | likely benign | 11 | 64219259 | 64219259 | Human | 1 | name |
| 127296474 | CV1121662 | single nucleotide variant | NM_031471.6(FERMT3):c.483C>T (p.Leu161=) | Leukocyte adhesion deficiency 3 [RCV001459995] | likely benign | 11 | 64211140 | 64211140 | Human | 1 | name |
| 127317269 | CV1121664 | single nucleotide variant | NM_031471.6(FERMT3):c.771C>T (p.Phe257=) | Leukocyte adhesion deficiency 3 [RCV001465814] | likely benign | 11 | 64211732 | 64211732 | Human | 1 | name |
| 127333844 | CV1121666 | single nucleotide variant | NM_031471.6(FERMT3):c.912G>T (p.Leu304=) | Leukocyte adhesion deficiency 3 [RCV001473163] | likely benign | 11 | 64219541 | 64219541 | Human | 1 | name |
| 127328223 | CV1142497 | single nucleotide variant | NM_031471.6(FERMT3):c.324C>T (p.Arg108=) | Leukocyte adhesion deficiency 3 [RCV001486684]|not specified [RCV005419150] | likely benign | 11 | 64210774 | 64210774 | Human | 1 | name |
| 127314837 | CV1142500 | single nucleotide variant | NM_031471.6(FERMT3):c.885C>T (p.Ala295=) | Leukocyte adhesion deficiency 3 [RCV001482354] | likely benign | 11 | 64219349 | 64219349 | Human | 1 | name |
| 127319534 | CV1156769 | single nucleotide variant | NM_031471.6(FERMT3):c.729C>T (p.Ala243=) | Leukocyte adhesion deficiency 3 [RCV001522182]|not provided [RCV001658226] | benign | 11 | 64211690 | 64211690 | Human | 1 | name |
| 127317933 | CV1156775 | microsatellite | NM_031471.6(FERMT3):c.1813-15_1813-14del | Leukocyte adhesion deficiency 3 [RCV001521408] | benign | 11 | 64223296 | 64223297 | Human | | name |
| 151875172 | CV1380688 | single nucleotide variant | NM_031471.6(FERMT3):c.37G>A (p.Asp13Asn) | Inborn genetic diseases [RCV002579597]|Leukocyte adhesion deficiency 3 [RCV001998846] | uncertain significance | 11 | 64207401 | 64207401 | Human | 2 | name |
| 151776802 | CV1436549 | single nucleotide variant | NM_031471.6(FERMT3):c.28G>A (p.Asp10Asn) | Leukocyte adhesion deficiency 3 [RCV001971705] | uncertain significance | 11 | 64207392 | 64207392 | Human | 1 | name |
| 151805303 | CV1440520 | single nucleotide variant | NM_031471.6(FERMT3):c.74A>G (p.Glu25Gly) | Leukocyte adhesion deficiency 3 [RCV001932683] | uncertain significance | 11 | 64207438 | 64207438 | Human | 1 | name |
| 151876484 | CV1467001 | single nucleotide variant | NM_031471.6(FERMT3):c.52C>G (p.Leu18Val) | Inborn genetic diseases [RCV003355600]|Leukocyte adhesion deficiency 3 [RCV001885921] | uncertain significance | 11 | 64207416 | 64207416 | Human | 2 | name |
| 151742284 | CV1478147 | single nucleotide variant | NM_031471.6(FERMT3):c.939G>A (p.Pro313=) | Leukocyte adhesion deficiency 3 [RCV002005927] | likely benign | 11 | 64219568 | 64219568 | Human | 1 | name |
| 152115453 | CV1526155 | single nucleotide variant | NM_031471.6(FERMT3):c.700C>A (p.Arg234=) | Leukocyte adhesion deficiency 3 [RCV002174870] | likely benign | 11 | 64211661 | 64211661 | Human | 1 | name |
| 152116093 | CV1553350 | single nucleotide variant | NM_031471.6(FERMT3):c.889C>T (p.Leu297=) | Leukocyte adhesion deficiency 3 [RCV002080912] | likely benign | 11 | 64219353 | 64219353 | Human | 1 | name |
| 152152052 | CV1559788 | single nucleotide variant | NM_031471.6(FERMT3):c.429G>C (p.Arg143=) | Leukocyte adhesion deficiency 3 [RCV002220969] | likely benign | 11 | 64211086 | 64211086 | Human | 1 | name |
| 152076911 | CV1564590 | single nucleotide variant | NM_031471.6(FERMT3):c.657G>A (p.Leu219=) | Leukocyte adhesion deficiency 3 [RCV002192531] | likely benign | 11 | 64211417 | 64211417 | Human | 1 | name |
| 152153119 | CV1579241 | single nucleotide variant | NM_031471.6(FERMT3):c.891G>A (p.Leu297=) | Leukocyte adhesion deficiency 3 [RCV002158485] | likely benign | 11 | 64219355 | 64219355 | Human | 1 | name |
| 152128001 | CV1583697 | single nucleotide variant | NM_031471.6(FERMT3):c.702G>A (p.Arg234=) | Leukocyte adhesion deficiency 3 [RCV002198942] | likely benign | 11 | 64211663 | 64211663 | Human | 1 | name |
| 152043983 | CV1588473 | single nucleotide variant | NM_031471.6(FERMT3):c.435T>C (p.Pro145=) | Leukocyte adhesion deficiency 3 [RCV002188618] | likely benign | 11 | 64211092 | 64211092 | Human | 1 | name |
| 152061685 | CV1611224 | single nucleotide variant | NM_031471.6(FERMT3):c.552C>T (p.His184=) | Leukocyte adhesion deficiency 3 [RCV002146850] | likely benign | 11 | 64211312 | 64211312 | Human | 1 | name |
| 152056705 | CV1647283 | single nucleotide variant | NM_031471.6(FERMT3):c.642A>G (p.Pro214=) | Leukocyte adhesion deficiency 3 [RCV002208183] | likely benign | 11 | 64211402 | 64211402 | Human | 1 | name |
| 152026227 | CV1666277 | single nucleotide variant | NM_031471.6(FERMT3):c.756G>A (p.Lys252=) | Leukocyte adhesion deficiency 3 [RCV002084728] | likely benign | 11 | 64211717 | 64211717 | Human | 1 | name |
| 8556965 | CV17748 | single nucleotide variant | NM_031471.6(FERMT3):c.48G>A (p.Trp16Ter) | Leukocyte adhesion deficiency 3 [RCV000002828]|Leukocyte adhesion deficiency [RCV004798713] | pathogenic | 11 | 64207412 | 64207412 | Human | 2 | name |
| 156171219 | CV1874243 | single nucleotide variant | NM_031471.6(FERMT3):c.420C>T (p.Ser140=) | Leukocyte adhesion deficiency 3 [RCV003083239] | likely benign | 11 | 64211077 | 64211077 | Human | 1 | name |
| 10048750 | CV194520 | single nucleotide variant | NM_031471.6(FERMT3):c.405C>T (p.His135=) | Leukocyte adhesion deficiency 3 [RCV000540280]|not provided [RCV003390901]|not specified [RCV000178372] | benign | 11 | 64211062 | 64211062 | Human | 1 | name |
| 10052858 | CV195433 | single nucleotide variant | NM_031471.6(FERMT3):c.708C>T (p.Leu236=) | Leukocyte adhesion deficiency 3 [RCV002515276]|not provided [RCV000179545] | likely benign|uncertain significance | 11 | 64211669 | 64211669 | Human | 1 | name |
| 156413722 | CV1979110 | single nucleotide variant | NM_031471.6(FERMT3):c.534C>T (p.Phe178=) | Leukocyte adhesion deficiency 3 [RCV002608926] | likely benign | 11 | 64211294 | 64211294 | Human | 1 | name |
| 156199122 | CV2014654 | single nucleotide variant | NM_031471.6(FERMT3):c.609G>A (p.Pro203=) | Leukocyte adhesion deficiency 3 [RCV002700216] | likely benign | 11 | 64211369 | 64211369 | Human | 1 | name |
| 156151220 | CV2070302 | single nucleotide variant | NM_031471.6(FERMT3):c.843G>A (p.Leu281=) | Leukocyte adhesion deficiency 3 [RCV002850875] | likely benign | 11 | 64219307 | 64219307 | Human | 1 | name |
| 156380421 | CV2117944 | single nucleotide variant | NM_031471.6(FERMT3):c.930G>A (p.Val310=) | Leukocyte adhesion deficiency 3 [RCV002943097] | likely benign | 11 | 64219559 | 64219559 | Human | 1 | name |
| 156170485 | CV2169884 | single nucleotide variant | NM_031471.6(FERMT3):c.46T>C (p.Trp16Arg) | Leukocyte adhesion deficiency 3 [RCV003023498] | uncertain significance | 11 | 64207410 | 64207410 | Human | 1 | name |
| 156256112 | CV2185280 | single nucleotide variant | NM_031471.6(FERMT3):c.834C>T (p.Asp278=) | Leukocyte adhesion deficiency 3 [RCV003043959] | likely benign | 11 | 64219298 | 64219298 | Human | 1 | name |
| 156126932 | CV2185706 | single nucleotide variant | NM_031471.6(FERMT3):c.351C>G (p.Ser117=) | Leukocyte adhesion deficiency 3 [RCV003055687] | likely benign | 11 | 64210801 | 64210801 | Human | 1 | name |
| 11637703 | CV273897 | single nucleotide variant | NM_031471.6(FERMT3):c.615C>T (p.Pro205=) | Leukocyte adhesion deficiency 3 [RCV001086489]|not provided [RCV000288795] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 11 | 64211375 | 64211375 | Human | 1 | name |
| 405110177 | CV2869249 | single nucleotide variant | NM_031471.6(FERMT3):c.540G>A (p.Gly180=) | Leukocyte adhesion deficiency 3 [RCV003499154] | likely benign | 11 | 64211300 | 64211300 | Human | 1 | name |
| 405002092 | CV2943099 | single nucleotide variant | NM_031471.6(FERMT3):c.987C>T (p.Asn329=) | Leukocyte adhesion deficiency 3 [RCV003605889] | likely benign | 11 | 64219616 | 64219616 | Human | 1 | name |
| 405010965 | CV3061379 | single nucleotide variant | NM_031471.6(FERMT3):c.564C>T (p.Ser188=) | Leukocyte adhesion deficiency 3 [RCV003606838] | likely benign | 11 | 64211324 | 64211324 | Human | 1 | name |
| 405010542 | CV3067360 | single nucleotide variant | NM_031471.6(FERMT3):c.357C>T (p.Pro119=) | Leukocyte adhesion deficiency 3 [RCV003606794] | likely benign | 11 | 64210807 | 64210807 | Human | 1 | name |
| 405012576 | CV3074969 | single nucleotide variant | NM_031471.6(FERMT3):c.861C>T (p.Thr287=) | Leukocyte adhesion deficiency 3 [RCV003607000] | likely benign | 11 | 64219325 | 64219325 | Human | 1 | name |
| 405225365 | CV3142348 | deletion | NM_031471.6(FERMT3):c.1311+13_1311+29del | Leukocyte adhesion deficiency 3 [RCV003847887] | uncertain significance | 11 | 64220334 | 64220350 | Human | 1 | name |
| 596948225 | CV3549306 | single nucleotide variant | NM_031471.6(FERMT3):c.663C>T (p.Asp221=) | not provided [RCV004812126] | likely benign | 11 | 64211423 | 64211423 | Human | | name |
| 597832259 | CV3751319 | single nucleotide variant | NM_031471.6(FERMT3):c.510T>C (p.Ala170=) | Leukocyte adhesion deficiency 3 [RCV005084865] | likely benign | 11 | 64211167 | 64211167 | Human | 1 | name |
| 597942227 | CV3779859 | single nucleotide variant | NM_031471.6(FERMT3):c.468G>A (p.Glu156=) | Leukocyte adhesion deficiency 3 [RCV005118868] | likely benign | 11 | 64211125 | 64211125 | Human | 1 | name |
| 597943326 | CV3812287 | single nucleotide variant | NM_031471.6(FERMT3):c.450G>A (p.Lys150=) | Leukocyte adhesion deficiency 3 [RCV005159497] | likely benign | 11 | 64211107 | 64211107 | Human | 1 | name |
| 597866655 | CV3834493 | single nucleotide variant | NM_031471.6(FERMT3):c.399C>T (p.Ile133=) | Leukocyte adhesion deficiency 3 [RCV005175860] | likely benign | 11 | 64211056 | 64211056 | Human | 1 | name |
| 597869371 | CV3835161 | single nucleotide variant | NM_031471.6(FERMT3):c.981G>C (p.Leu327=) | Leukocyte adhesion deficiency 3 [RCV005176337] | likely benign | 11 | 64219610 | 64219610 | Human | 1 | name |
| 597933872 | CV3844767 | single nucleotide variant | NM_031471.6(FERMT3):c.699G>A (p.Ser233=) | Leukocyte adhesion deficiency 3 [RCV005186273] | likely benign | 11 | 64211660 | 64211660 | Human | 1 | name |
| 597898371 | CV3854555 | deletion | NM_031471.6(FERMT3):c.1205-24_1205-16del | Leukocyte adhesion deficiency 3 [RCV005201662] | likely benign | 11 | 64220196 | 64220204 | Human | 1 | name |
| 597889171 | CV3856028 | single nucleotide variant | NM_031471.6(FERMT3):c.408C>T (p.Pro136=) | Leukocyte adhesion deficiency 3 [RCV005200273] | likely benign | 11 | 64211065 | 64211065 | Human | 1 | name |
| 12892808 | CV404803 | single nucleotide variant | NM_031471.6(FERMT3):c.86C>T (p.Ala29Val) | Leukocyte adhesion deficiency 3 [RCV000477963] | uncertain significance | 11 | 64207450 | 64207450 | Human | 1 | name |
| 13619462 | CV526848 | single nucleotide variant | NM_031471.6(FERMT3):c.930G>C (p.Val310=) | Leukocyte adhesion deficiency 3 [RCV000646735]|not provided [RCV004718763] | benign|likely benign | 11 | 64219559 | 64219559 | Human | 1 | name |
| 13802284 | CV565944 | single nucleotide variant | NM_031471.6(FERMT3):c.56G>A (p.Arg19Gln) | Inborn genetic diseases [RCV002536387]|Leukocyte adhesion deficiency 3 [RCV000704580] | uncertain significance | 11 | 64207420 | 64207420 | Human | 2 | name |
| 14398981 | CV614362 | single nucleotide variant | NM_031471.6(FERMT3):c.558G>A (p.Ser186=) | Leukocyte adhesion deficiency 3 [RCV000767977] | uncertain significance | 11 | 64211318 | 64211318 | Human | 1 | name |
| 14720914 | CV640236 | single nucleotide variant | NM_031471.6(FERMT3):c.41C>G (p.Ser14Trp) | Leukocyte adhesion deficiency 3 [RCV000796873] | uncertain significance | 11 | 64207405 | 64207405 | Human | 1 | name |
| 15148829 | CV712988 | single nucleotide variant | NM_031471.6(FERMT3):c.303C>T (p.Ile101=) | FERMT3-related disorder [RCV003905932]|Leukocyte adhesion deficiency 3 [RCV000967629]|not provided [RCV003392710] | likely benign | 11 | 64210753 | 64210753 | Human | 1 | name , trait , alternate_id |
| 15177378 | CV724554 | single nucleotide variant | NM_031471.6(FERMT3):c.315C>G (p.Pro105=) | Leukocyte adhesion deficiency 3 [RCV000884807] | likely benign | 11 | 64210765 | 64210765 | Human | 1 | name |
| 15187798 | CV724556 | single nucleotide variant | NM_031471.6(FERMT3):c.921C>T (p.Ser307=) | Leukocyte adhesion deficiency 3 [RCV000887352]|not provided [RCV003392676] | benign|likely benign | 11 | 64219550 | 64219550 | Human | 1 | name |
| 15152453 | CV752756 | single nucleotide variant | NM_031471.6(FERMT3):c.963C>T (p.Asp321=) | Leukocyte adhesion deficiency 3 [RCV002065997] | likely benign | 11 | 64219592 | 64219592 | Human | 1 | name |
| 15196253 | CV768541 | single nucleotide variant | NM_031471.6(FERMT3):c.369T>C (p.Ala123=) | Leukocyte adhesion deficiency 3 [RCV001417542] | likely benign | 11 | 64210819 | 64210819 | Human | 1 | name |
| 15145868 | CV768542 | single nucleotide variant | NM_031471.6(FERMT3):c.531G>C (p.Leu177=) | Leukocyte adhesion deficiency 3 [RCV001444936] | likely benign | 11 | 64211291 | 64211291 | Human | 1 | name |
| 15147361 | CV768543 | single nucleotide variant | NM_031471.6(FERMT3):c.660A>G (p.Ser220=) | Leukocyte adhesion deficiency 3 [RCV001427056] | likely benign | 11 | 64211420 | 64211420 | Human | 1 | name |
| 38489781 | CV926311 | single nucleotide variant | NM_031471.6(FERMT3):c.34A>G (p.Ile12Val) | Leukocyte adhesion deficiency 3 [RCV001221854] | uncertain significance | 11 | 64207398 | 64207398 | Human | 1 | name |
| 38465189 | CV947552 | single nucleotide variant | NM_031471.6(FERMT3):c.516C>T (p.Gly172=) | Leukocyte adhesion deficiency 3 [RCV001230102] | likely benign|uncertain significance | 11 | 64211276 | 64211276 | Human | 1 | name |
| 126755398 | CV1009811 | single nucleotide variant | NM_031471.6(FERMT3):c.1239C>T (p.Gly413=) | Leukocyte adhesion deficiency 3 [RCV001327731] | likely benign|uncertain significance | 11 | 64220254 | 64220254 | Human | 1 | name |
| 126922703 | CV1047349 | single nucleotide variant | NM_031471.6(FERMT3):c.163C>A (p.Arg55Ser) | Leukocyte adhesion deficiency 3 [RCV001364980] | uncertain significance | 11 | 64210613 | 64210613 | Human | 1 | name |
| 127280779 | CV1078431 | single nucleotide variant | NM_031471.6(FERMT3):c.144G>T (p.Lys48Asn) | Leukocyte adhesion deficiency 3 [RCV001410039] | likely benign | 11 | 64207508 | 64207508 | Human | 1 | name |
| 127273585 | CV1078438 | single nucleotide variant | NM_031471.6(FERMT3):c.1050A>G (p.Pro350=) | Leukocyte adhesion deficiency 3 [RCV001406112] | likely benign | 11 | 64219760 | 64219760 | Human | 1 | name |
| 127242134 | CV1078440 | single nucleotide variant | NM_031471.6(FERMT3):c.1236C>T (p.Ser412=) | Leukocyte adhesion deficiency 3 [RCV001398132] | likely benign | 11 | 64220251 | 64220251 | Human | 1 | name |
| 127230800 | CV1078442 | single nucleotide variant | NM_031471.6(FERMT3):c.1314G>A (p.Glu438=) | Leukocyte adhesion deficiency 3 [RCV001412733] | likely benign | 11 | 64220438 | 64220438 | Human | 1 | name |
| 127236188 | CV1078443 | single nucleotide variant | NM_031471.6(FERMT3):c.1707C>T (p.Ile569=) | Leukocyte adhesion deficiency 3 [RCV001414624] | likely benign | 11 | 64223084 | 64223084 | Human | 1 | name |
| 127238077 | CV1078444 | single nucleotide variant | NM_031471.6(FERMT3):c.1884C>T (p.His628=) | Leukocyte adhesion deficiency 3 [RCV001415039] | likely benign | 11 | 64223384 | 64223384 | Human | 1 | name |
| 127281919 | CV1100165 | single nucleotide variant | NM_031471.6(FERMT3):c.1014G>A (p.Ala338=) | Leukocyte adhesion deficiency 3 [RCV001447487] | likely benign | 11 | 64219643 | 64219643 | Human | 1 | name |
| 127267541 | CV1100167 | single nucleotide variant | NM_031471.6(FERMT3):c.1269C>A (p.Pro423=) | Leukocyte adhesion deficiency 3 [RCV001440572] | likely benign | 11 | 64220284 | 64220284 | Human | 1 | name |
| 127277660 | CV1100168 | single nucleotide variant | NM_031471.6(FERMT3):c.1503C>T (p.Gly501=) | Leukocyte adhesion deficiency 3 [RCV001444559] | likely benign | 11 | 64220627 | 64220627 | Human | 1 | name |
| 127262915 | CV1100169 | single nucleotide variant | NM_031471.6(FERMT3):c.1635C>G (p.Ser545=) | FERMT3-related disorder [RCV003930915]|Leukocyte adhesion deficiency 3 [RCV001428452] | likely benign | 11 | 64221105 | 64221105 | Human | 1 | name , trait , alternate_id |
| 127291705 | CV1121667 | single nucleotide variant | NM_031471.6(FERMT3):c.1095C>T (p.Thr365=) | Leukocyte adhesion deficiency 3 [RCV001458812] | likely benign | 11 | 64219906 | 64219906 | Human | 1 | name |
| 127307564 | CV1121669 | single nucleotide variant | NM_031471.6(FERMT3):c.1578T>C (p.Asn526=) | Leukocyte adhesion deficiency 3 [RCV001455816] | likely benign | 11 | 64221048 | 64221048 | Human | 1 | name |
| 127288395 | CV1121670 | single nucleotide variant | NM_031471.6(FERMT3):c.1743G>T (p.Val581=) | Leukocyte adhesion deficiency 3 [RCV001450464] | likely benign | 11 | 64223120 | 64223120 | Human | 1 | name |
| 127314691 | CV1121671 | single nucleotide variant | NM_031471.6(FERMT3):c.1821C>T (p.Ile607=) | Leukocyte adhesion deficiency 3 [RCV001457775] | likely benign | 11 | 64223321 | 64223321 | Human | 1 | name |
| 127306367 | CV1142501 | single nucleotide variant | NM_031471.6(FERMT3):c.1047C>A (p.Ile349=) | Leukocyte adhesion deficiency 3 [RCV001480035] | likely benign | 11 | 64219757 | 64219757 | Human | 1 | name |
| 127336704 | CV1142502 | single nucleotide variant | NM_031471.6(FERMT3):c.1527A>C (p.Arg509=) | Leukocyte adhesion deficiency 3 [RCV001492374] | likely benign | 11 | 64220651 | 64220651 | Human | 1 | name |
| 127334736 | CV1142503 | single nucleotide variant | NM_031471.6(FERMT3):c.1584C>T (p.Ala528=) | Leukocyte adhesion deficiency 3 [RCV001491066] | likely benign | 11 | 64221054 | 64221054 | Human | 1 | name |
| 127311731 | CV1156773 | single nucleotide variant | NM_031471.6(FERMT3):c.1449G>A (p.Pro483=) | Leukocyte adhesion deficiency 3 [RCV001518719]|not provided [RCV001597286] | benign | 11 | 64220573 | 64220573 | Human | 3 | name |
| 127303908 | CV1156776 | single nucleotide variant | NM_031471.6(FERMT3):c.1914G>C (p.Ser638=) | Leukocyte adhesion deficiency 3 [RCV001515669] | benign | 11 | 64223414 | 64223414 | Human | 1 | name |
| 151785332 | CV1369342 | single nucleotide variant | NM_031471.6(FERMT3):c.113G>C (p.Gly38Ala) | Leukocyte adhesion deficiency 3 [RCV002046545] | uncertain significance | 11 | 64207477 | 64207477 | Human | 1 | name |
| 151784860 | CV1374600 | single nucleotide variant | NM_031471.6(FERMT3):c.1746C>T (p.Gly582=) | Leukocyte adhesion deficiency 3 [RCV001875713] | likely benign|uncertain significance | 11 | 64223123 | 64223123 | Human | 1 | name |
| 151731913 | CV1389965 | single nucleotide variant | NM_031471.6(FERMT3):c.275T>G (p.Phe92Cys) | Leukocyte adhesion deficiency 3 [RCV001910957] | uncertain significance | 11 | 64210725 | 64210725 | Human | 1 | name |
| 151713524 | CV1428818 | deletion | NM_031471.6(FERMT3):c.540del (p.Met181fs) | Leukocyte adhesion deficiency 3 [RCV002002460] | pathogenic | 11 | 64211296 | 64211296 | Human | 1 | name |
| 151883795 | CV1432244 | single nucleotide variant | NM_031471.6(FERMT3):c.1866C>T (p.Ala622=) | Leukocyte adhesion deficiency 3 [RCV002000130] | likely benign | 11 | 64223366 | 64223366 | Human | 1 | name |
| 151853301 | CV1456951 | single nucleotide variant | NM_031471.6(FERMT3):c.1497C>G (p.Pro499=) | FERMT3-related disorder [RCV004756304]|Leukocyte adhesion deficiency 3 [RCV001883023] | likely benign|uncertain significance | 11 | 64220621 | 64220621 | Human | 1 | name , trait , alternate_id |
| 151766019 | CV1485902 | single nucleotide variant | NM_031471.6(FERMT3):c.1650C>T (p.Gly550=) | Leukocyte adhesion deficiency 3 [RCV002044785] | likely benign|uncertain significance | 11 | 64221120 | 64221120 | Human | 1 | name |
| 151720785 | CV1491597 | single nucleotide variant | NM_031471.6(FERMT3):c.1104C>G (p.Gly368=) | Leukocyte adhesion deficiency 3 [RCV002003633] | likely benign|uncertain significance | 11 | 64219915 | 64219915 | Human | 1 | name |
| 152175818 | CV1527241 | single nucleotide variant | NM_031471.6(FERMT3):c.1389C>T (p.Thr463=) | Leukocyte adhesion deficiency 3 [RCV002163955] | likely benign | 11 | 64220513 | 64220513 | Human | 1 | name |
| 152064787 | CV1539631 | single nucleotide variant | NM_031471.6(FERMT3):c.1260C>T (p.Leu420=) | Leukocyte adhesion deficiency 3 [RCV002147261] | likely benign | 11 | 64220275 | 64220275 | Human | 1 | name |
| 152092305 | CV1545033 | single nucleotide variant | NM_031471.6(FERMT3):c.1749C>T (p.Asp583=) | Leukocyte adhesion deficiency 3 [RCV002171988] | likely benign | 11 | 64223126 | 64223126 | Human | 1 | name |
| 152168469 | CV1548031 | single nucleotide variant | NM_031471.6(FERMT3):c.1362C>G (p.Gly454=) | Leukocyte adhesion deficiency 3 [RCV002161134] | likely benign | 11 | 64220486 | 64220486 | Human | 1 | name |
| 152026428 | CV1550279 | single nucleotide variant | NM_031471.6(FERMT3):c.1842T>C (p.Asn614=) | Leukocyte adhesion deficiency 3 [RCV002185152] | likely benign | 11 | 64223342 | 64223342 | Human | 1 | name |
| 152066031 | CV1565047 | single nucleotide variant | NM_031471.6(FERMT3):c.1251C>T (p.Cys417=) | Leukocyte adhesion deficiency 3 [RCV002090932] | likely benign | 11 | 64220266 | 64220266 | Human | 1 | name |
| 152116377 | CV1569552 | single nucleotide variant | NM_031471.6(FERMT3):c.1647C>T (p.Phe549=) | Leukocyte adhesion deficiency 3 [RCV002117246] | likely benign | 11 | 64221117 | 64221117 | Human | 1 | name |
| 152128212 | CV1573969 | single nucleotide variant | NM_031471.6(FERMT3):c.1731C>T (p.Ile577=) | Leukocyte adhesion deficiency 3 [RCV002155163] | likely benign | 11 | 64223108 | 64223108 | Human | 1 | name |
| 152113187 | CV1585931 | single nucleotide variant | NM_031471.6(FERMT3):c.1896G>A (p.Gly632=) | Leukocyte adhesion deficiency 3 [RCV002153326] | likely benign | 11 | 64223396 | 64223396 | Human | 1 | name |
| 152102785 | CV1605979 | single nucleotide variant | NM_031471.6(FERMT3):c.1221C>T (p.Pro407=) | Leukocyte adhesion deficiency 3 [RCV002095748] | likely benign | 11 | 64220236 | 64220236 | Human | 1 | name |
| 152172950 | CV1641789 | single nucleotide variant | NM_031471.6(FERMT3):c.1374C>T (p.Ala458=) | Leukocyte adhesion deficiency 3 [RCV002184014]|not specified [RCV005239305] | likely benign | 11 | 64220498 | 64220498 | Human | 1 | name |
| 152095391 | CV1653064 | single nucleotide variant | NM_031471.6(FERMT3):c.1609C>T (p.Leu537=) | Leukocyte adhesion deficiency 3 [RCV002094767] | likely benign | 11 | 64221079 | 64221079 | Human | 1 | name |
| 152981980 | CV1678917 | deletion | NM_031471.6(FERMT3):c.921del (p.Ser307fs) | Leukocyte adhesion deficiency 3 [RCV002248304] | pathogenic | 11 | 64219550 | 64219550 | Human | 1 | name |
| 156351509 | CV1870107 | single nucleotide variant | NM_031471.6(FERMT3):c.1596G>A (p.Leu532=) | FERMT3-related disorder [RCV003953842]|Leukocyte adhesion deficiency 3 [RCV003064887] | likely benign | 11 | 64221066 | 64221066 | Human | 1 | name , trait , alternate_id |
| 156397854 | CV1880803 | single nucleotide variant | NM_031471.6(FERMT3):c.164G>A (p.Arg55His) | Inborn genetic diseases [RCV004978537]|Leukocyte adhesion deficiency 3 [RCV003068832] | uncertain significance | 11 | 64210614 | 64210614 | Human | 2 | name |
| 156180118 | CV1888317 | single nucleotide variant | NM_031471.6(FERMT3):c.1740C>T (p.Ala580=) | Leukocyte adhesion deficiency 3 [RCV003083529] | likely benign | 11 | 64223117 | 64223117 | Human | 1 | name |
| 156376607 | CV1896096 | single nucleotide variant | NM_031471.6(FERMT3):c.1908C>T (p.Phe636=) | Leukocyte adhesion deficiency 3 [RCV003092926] | likely benign | 11 | 64223408 | 64223408 | Human | 1 | name |
| 156075922 | CV1904250 | single nucleotide variant | NM_031471.6(FERMT3):c.124A>G (p.Ile42Val) | Leukocyte adhesion deficiency 3 [RCV002591417] | uncertain significance | 11 | 64207488 | 64207488 | Human | 1 | name |
| 10049764 | CV190909 | single nucleotide variant | NM_031471.6(FERMT3):c.1188G>A (p.Gln396=) | FERMT3-related disorder [RCV003907556]|Leukocyte adhesion deficiency 3 [RCV001079604]|not provided [RCV000173905] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 11 | 64219999 | 64219999 | Human | 1 | name , trait , alternate_id |
| 156208575 | CV1913361 | single nucleotide variant | NM_031471.6(FERMT3):c.1977C>T (p.Gly659=) | Leukocyte adhesion deficiency 3 [RCV002595978] | likely benign | 11 | 64223477 | 64223477 | Human | 1 | name |
| 10050312 | CV191727 | single nucleotide variant | NM_031471.6(FERMT3):c.1893C>T (p.Ile631=) | Leukocyte adhesion deficiency 3 [RCV000603085]|not provided [RCV000174954] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 11 | 64223393 | 64223393 | Human | 1 | name |
| 10047937 | CV191728 | single nucleotide variant | NM_031471.6(FERMT3):c.1917G>A (p.Thr639=) | Leukocyte adhesion deficiency 3 [RCV000527694]|not provided [RCV004718089]|not specified [RCV000174955] | benign | 11 | 64223417 | 64223417 | Human | 1 | name |
| 155944086 | CV1921080 | single nucleotide variant | NM_031471.6(FERMT3):c.1392C>T (p.Ser464=) | Leukocyte adhesion deficiency 3 [RCV002615826] | likely benign | 11 | 64220516 | 64220516 | Human | 1 | name |
| 10048203 | CV192548 | single nucleotide variant | NM_031471.6(FERMT3):c.159C>G (p.Ile53Met) | FERMT3-related disorder [RCV003907578]|Leukocyte adhesion deficiency 3 [RCV000646732]|not provided [RCV004703445]|not specified [RCV000175956] | likely benign | 11 | 64207523 | 64207523 | Human | 5 | name , trait , alternate_id |
| 10048204 | CV192549 | single nucleotide variant | NM_031471.6(FERMT3):c.130G>A (p.Gly44Arg) | Leukocyte adhesion deficiency 3 [RCV001081827]|not provided [RCV000526322]|not specified [RCV000175957] | benign|conflicting interpretations of pathogenicity|uncertain significance | 11 | 64207494 | 64207494 | Human | 5 | name |
| 10048204 | CV192549 | single nucleotide variant | NM_031471.6(FERMT3):c.130G>A (p.Gly44Arg) | Leukocyte adhesion deficiency 3 [RCV001081827]|not provided [RCV000526322]|not specified [RCV000175957] | benign|conflicting interpretations of pathogenicity|uncertain significance | 11 | 64207494 | 64207495 | Human | 5 | name |
| 156410258 | CV1932246 | single nucleotide variant | NM_031471.6(FERMT3):c.1857C>T (p.Cys619=) | Leukocyte adhesion deficiency 3 [RCV002607812] | likely benign | 11 | 64223357 | 64223357 | Human | 1 | name |
| 156447354 | CV1944997 | single nucleotide variant | NM_031471.6(FERMT3):c.1725C>A (p.Ile575=) | Leukocyte adhesion deficiency 3 [RCV003118881] | likely benign | 11 | 64223102 | 64223102 | Human | 1 | name |
| 156305904 | CV1999835 | single nucleotide variant | NM_031471.6(FERMT3):c.1170C>G (p.Ala390=) | Leukocyte adhesion deficiency 3 [RCV002671381] | likely benign | 11 | 64219981 | 64219981 | Human | 1 | name |
| 156354284 | CV2012057 | single nucleotide variant | NM_031471.6(FERMT3):c.1128C>T (p.Phe376=) | Leukocyte adhesion deficiency 3 [RCV002720411] | likely benign | 11 | 64219939 | 64219939 | Human | 1 | name |
| 155940263 | CV2025383 | single nucleotide variant | NM_031471.6(FERMT3):c.213G>C (p.Gln71His) | Leukocyte adhesion deficiency 3 [RCV002730065] | uncertain significance | 11 | 64210663 | 64210663 | Human | 1 | name |
| 156313081 | CV2031707 | single nucleotide variant | NM_031471.6(FERMT3):c.1011G>A (p.Ser337=) | Leukocyte adhesion deficiency 3 [RCV002716649] | likely benign | 11 | 64219640 | 64219640 | Human | 1 | name |
| 156117775 | CV2042952 | single nucleotide variant | NM_031471.6(FERMT3):c.1512C>T (p.Ala504=) | Leukocyte adhesion deficiency 3 [RCV002800103] | likely benign | 11 | 64220636 | 64220636 | Human | 1 | name |
| 156185477 | CV2086526 | single nucleotide variant | NM_031471.6(FERMT3):c.1701G>A (p.Leu567=) | Leukocyte adhesion deficiency 3 [RCV002851969] | likely benign | 11 | 64223078 | 64223078 | Human | 1 | name |
| 156252177 | CV2117020 | single nucleotide variant | NM_031471.6(FERMT3):c.1164C>T (p.Asp388=) | Leukocyte adhesion deficiency 3 [RCV002933590] | likely benign | 11 | 64219975 | 64219975 | Human | 1 | name |
| 156148579 | CV2175196 | single nucleotide variant | NM_031471.6(FERMT3):c.155A>G (p.Gln52Arg) | Leukocyte adhesion deficiency 3 [RCV003040292] | uncertain significance | 11 | 64207519 | 64207519 | Human | 1 | name |
| 156299004 | CV2180654 | single nucleotide variant | NM_031471.6(FERMT3):c.107T>C (p.Val36Ala) | Leukocyte adhesion deficiency 3 [RCV003028000] | uncertain significance | 11 | 64207471 | 64207471 | Human | 1 | name |
| 156268252 | CV2329743 | single nucleotide variant | NM_031471.6(FERMT3):c.265G>A (p.Ala89Thr) | Inborn genetic diseases [RCV002960174] | uncertain significance | 11 | 64210715 | 64210715 | Human | 1 | name |
| 401769924 | CV2710737 | single nucleotide variant | NM_031471.6(FERMT3):c.287A>G (p.Gln96Arg) | Inborn genetic diseases [RCV003260819] | uncertain significance | 11 | 64210737 | 64210737 | Human | 1 | name |
| 405112328 | CV2887824 | single nucleotide variant | NM_031471.6(FERMT3):c.1443G>C (p.Gly481=) | Leukocyte adhesion deficiency 3 [RCV003499517] | likely benign | 11 | 64220567 | 64220567 | Human | 1 | name |
| 405112723 | CV2892039 | single nucleotide variant | NM_031471.6(FERMT3):c.1911G>A (p.Leu637=) | Leukocyte adhesion deficiency 3 [RCV003499584] | likely benign | 11 | 64223411 | 64223411 | Human | 1 | name |
| 405002161 | CV2940011 | single nucleotide variant | NM_031471.6(FERMT3):c.1620C>T (p.Ile540=) | Leukocyte adhesion deficiency 3 [RCV003605897] | likely benign | 11 | 64221090 | 64221090 | Human | 1 | name |
| 405003992 | CV2968444 | single nucleotide variant | NM_031471.6(FERMT3):c.1926G>C (p.Arg642=) | Leukocyte adhesion deficiency 3 [RCV003606133] | likely benign | 11 | 64223426 | 64223426 | Human | 1 | name |
| 405004951 | CV2970124 | single nucleotide variant | NM_031471.6(FERMT3):c.1686G>A (p.Arg562=) | Leukocyte adhesion deficiency 3 [RCV003606229] | likely benign | 11 | 64223063 | 64223063 | Human | 1 | name |
| 405007137 | CV2980449 | single nucleotide variant | NM_031471.6(FERMT3):c.1839C>T (p.Ile613=) | Leukocyte adhesion deficiency 3 [RCV003606436] | likely benign | 11 | 64223339 | 64223339 | Human | 1 | name |
| 404998512 | CV3014239 | single nucleotide variant | NM_031471.6(FERMT3):c.1593G>T (p.Ser531=) | Leukocyte adhesion deficiency 3 [RCV003605361] | likely benign | 11 | 64221063 | 64221063 | Human | 1 | name |
| 405010923 | CV3064484 | single nucleotide variant | NM_031471.6(FERMT3):c.1593G>A (p.Ser531=) | Leukocyte adhesion deficiency 3 [RCV003606833]|not provided [RCV003992788] | likely benign | 11 | 64221063 | 64221063 | Human | 1 | name |
| 405204268 | CV3116922 | single nucleotide variant | NM_031471.6(FERMT3):c.1230C>T (p.Asn410=) | Leukocyte adhesion deficiency 3 [RCV003822406] | likely benign | 11 | 64220245 | 64220245 | Human | 1 | name |
| 405134608 | CV3163925 | single nucleotide variant | NM_031471.6(FERMT3):c.1914G>A (p.Ser638=) | Leukocyte adhesion deficiency 3 [RCV003854913] | likely benign | 11 | 64223414 | 64223414 | Human | 1 | name |
| 404980156 | CV3183317 | single nucleotide variant | NM_031471.6(FERMT3):c.1918C>A (p.Arg640=) | Leukocyte adhesion deficiency 3 [RCV003880340] | likely benign | 11 | 64223418 | 64223418 | Human | 1 | name |
| 405289758 | CV3213280 | single nucleotide variant | NM_031471.6(FERMT3):c.1971C>T (p.Thr657=) | FERMT3-related disorder [RCV003961944] | likely benign | 11 | 64223471 | 64223471 | Human | | name , trait , alternate_id |
| 597840383 | CV3737168 | single nucleotide variant | NM_031471.6(FERMT3):c.1909C>T (p.Leu637=) | Leukocyte adhesion deficiency 3 [RCV005064648] | likely benign | 11 | 64223409 | 64223409 | Human | 1 | name |
| 597882863 | CV3741219 | single nucleotide variant | NM_031471.6(FERMT3):c.160A>G (p.Asn54Asp) | Leukocyte adhesion deficiency 3 [RCV005070126] | uncertain significance | 11 | 64207524 | 64207524 | Human | 1 | name |
| 597957044 | CV3754766 | single nucleotide variant | NM_031471.6(FERMT3):c.1422C>T (p.Ser474=) | Leukocyte adhesion deficiency 3 [RCV005080616] | likely benign | 11 | 64220546 | 64220546 | Human | 1 | name |
| 597835325 | CV3760817 | single nucleotide variant | NM_031471.6(FERMT3):c.1735T>C (p.Leu579=) | Leukocyte adhesion deficiency 3 [RCV005085368] | likely benign | 11 | 64223112 | 64223112 | Human | 1 | name |
| 597894822 | CV3763468 | single nucleotide variant | NM_031471.6(FERMT3):c.1377C>T (p.Asp459=) | Leukocyte adhesion deficiency 3 [RCV005111048] | likely benign | 11 | 64220501 | 64220501 | Human | 1 | name |
| 597892567 | CV3785344 | single nucleotide variant | NM_031471.6(FERMT3):c.1152C>T (p.Tyr384=) | Leukocyte adhesion deficiency 3 [RCV005125930] | likely benign | 11 | 64219963 | 64219963 | Human | 1 | name |
| 597975893 | CV3795992 | single nucleotide variant | NM_031471.6(FERMT3):c.1905T>A (p.Ile635=) | Leukocyte adhesion deficiency 3 [RCV005144823] | likely benign | 11 | 64223405 | 64223405 | Human | 1 | name |
| 597954015 | CV3812630 | single nucleotide variant | NM_031471.6(FERMT3):c.1179C>T (p.Asp393=) | Leukocyte adhesion deficiency 3 [RCV005161904] | likely benign | 11 | 64219990 | 64219990 | Human | 1 | name |
| 597974076 | CV3821073 | single nucleotide variant | NM_031471.6(FERMT3):c.1113A>G (p.Gln371=) | Leukocyte adhesion deficiency 3 [RCV005168394] | likely benign | 11 | 64219924 | 64219924 | Human | 1 | name |
| 597895842 | CV3834519 | single nucleotide variant | NM_031471.6(FERMT3):c.110C>T (p.Thr37Ile) | Leukocyte adhesion deficiency 3 [RCV005180430] | uncertain significance | 11 | 64207474 | 64207474 | Human | 1 | name |
| 597893021 | CV3856815 | single nucleotide variant | NM_031471.6(FERMT3):c.1014G>T (p.Ala338=) | Leukocyte adhesion deficiency 3 [RCV005200881] | likely benign | 11 | 64219643 | 64219643 | Human | 1 | name |
| 12895961 | CV390058 | single nucleotide variant | NM_031471.6(FERMT3):c.1506C>T (p.Leu502=) | Leukocyte adhesion deficiency 3 [RCV001518720]|not provided [RCV001598669]|not specified [RCV000454692] | benign | 11 | 64220630 | 64220630 | Human | 4 | name |
| 12895961 | CV390058 | single nucleotide variant | NM_031471.6(FERMT3):c.1506C>T (p.Leu502=) | Leukocyte adhesion deficiency 3 [RCV001518720]|not provided [RCV001598669]|not specified [RCV000454692] | benign | 11 | 64220630 | 64220631 | Human | 4 | name |
| 616939573 | CV4014068 | single nucleotide variant | NM_031471.6(FERMT3):c.1092G>A (p.Leu364=) | not provided [RCV005413560] | likely benign | 11 | 64219903 | 64219903 | Human | | name |
| 13498376 | CV461445 | single nucleotide variant | NM_031471.6(FERMT3):c.1320G>A (p.Gln440=) | Leukocyte adhesion deficiency 3 [RCV000539188]|not provided [RCV004718727] | benign|likely benign | 11 | 64220444 | 64220444 | Human | 1 | name |
| 13523968 | CV488701 | single nucleotide variant | NM_031471.6(FERMT3):c.1404C>T (p.Ala468=) | Leukocyte adhesion deficiency 3 [RCV000646733]|not provided [RCV004704103]|not specified [RCV000593665] | benign|likely benign | 11 | 64220528 | 64220528 | Human | 1 | name |
| 13534248 | CV512851 | single nucleotide variant | NM_031471.6(FERMT3):c.1317G>A (p.Gln439=) | Leukocyte adhesion deficiency 3 [RCV000625036]|not provided [RCV004705721] | benign|likely benign | 11 | 64220441 | 64220441 | Human | 1 | name |
| 13619456 | CV526357 | single nucleotide variant | NM_031471.6(FERMT3):c.268C>T (p.Arg90Cys) | Inborn genetic diseases [RCV004025716]|Leukocyte adhesion deficiency 3 [RCV000646730] | uncertain significance | 11 | 64210718 | 64210718 | Human | 2 | name |
| 13619469 | CV526849 | single nucleotide variant | NM_031471.6(FERMT3):c.1692C>T (p.Asp564=) | Leukocyte adhesion deficiency 3 [RCV000646740]|not provided [RCV004718764] | benign|likely benign | 11 | 64223069 | 64223069 | Human | 1 | name |
| 14713594 | CV640237 | single nucleotide variant | NM_031471.6(FERMT3):c.269G>A (p.Arg90His) | Leukocyte adhesion deficiency 3 [RCV000810614] | uncertain significance | 11 | 64210719 | 64210719 | Human | 1 | name |
| 14706704 | CV640241 | duplication | NM_031471.6(FERMT3):c.814dup (p.Tyr272fs) | Leukocyte adhesion deficiency 3 [RCV000808521] | pathogenic | 11 | 64219277 | 64219278 | Human | 1 | name |
| 15176176 | CV701856 | single nucleotide variant | NM_031471.6(FERMT3):c.206A>C (p.Lys69Thr) | Leukocyte adhesion deficiency 3 [RCV000950765] | benign | 11 | 64210656 | 64210656 | Human | 1 | name |
| 15165097 | CV724559 | single nucleotide variant | NM_031471.6(FERMT3):c.1722G>C (p.Leu574=) | Leukocyte adhesion deficiency 3 [RCV000882340] | benign | 11 | 64223099 | 64223099 | Human | 1 | name |
| 15148662 | CV738094 | single nucleotide variant | NM_031471.6(FERMT3):c.1464C>T (p.His488=) | Leukocyte adhesion deficiency 3 [RCV001476439] | likely benign | 11 | 64220588 | 64220588 | Human | 1 | name |
| 15165150 | CV752757 | single nucleotide variant | NM_031471.6(FERMT3):c.1434G>A (p.Thr478=) | Leukocyte adhesion deficiency 3 [RCV000926556] | likely benign | 11 | 64220558 | 64220558 | Human | 1 | name |
| 15128521 | CV752758 | single nucleotide variant | NM_031471.6(FERMT3):c.1983G>A (p.Glu661=) | Leukocyte adhesion deficiency 3 [RCV001412198] | likely benign | 11 | 64223483 | 64223483 | Human | 1 | name |
| 15184872 | CV768544 | single nucleotide variant | NM_031471.6(FERMT3):c.1374C>G (p.Ala458=) | Leukocyte adhesion deficiency 3 [RCV001429646] | likely benign | 11 | 64220498 | 64220498 | Human | 1 | name |
| 15140378 | CV768545 | single nucleotide variant | NM_031471.6(FERMT3):c.1408C>T (p.Leu470=) | Leukocyte adhesion deficiency 3 [RCV000943708] | likely benign | 11 | 64220532 | 64220532 | Human | 1 | name |
| 15109773 | CV784051 | single nucleotide variant | NM_031471.6(FERMT3):c.1548C>A (p.Leu516=) | Leukocyte adhesion deficiency 3 [RCV000977305] | likely benign | 11 | 64221018 | 64221018 | Human | 1 | name |
| 26891908 | CV838680 | single nucleotide variant | NM_031471.6(FERMT3):c.140T>A (p.Leu47Gln) | Leukocyte adhesion deficiency 3 [RCV001046680] | uncertain significance | 11 | 64207504 | 64207504 | Human | 1 | name |
| 126762450 | CV994623 | single nucleotide variant | NM_031471.6(FERMT3):c.262G>A (p.Asp88Asn) | Leukocyte adhesion deficiency 3 [RCV001309887] | uncertain significance | 11 | 64210712 | 64210712 | Human | 1 | name |
| 126745529 | CV1009807 | single nucleotide variant | NM_031471.6(FERMT3):c.507G>C (p.Leu169Phe) | Leukocyte adhesion deficiency 3 [RCV001315085] | uncertain significance | 11 | 64211164 | 64211164 | Human | 1 | name |
| 126771102 | CV1009808 | single nucleotide variant | NM_031471.6(FERMT3):c.560A>G (p.Asp187Gly) | Leukocyte adhesion deficiency 3 [RCV001322965] | uncertain significance | 11 | 64211320 | 64211320 | Human | 1 | name |
| 126769598 | CV1009809 | single nucleotide variant | NM_031471.6(FERMT3):c.644G>A (p.Arg215Gln) | Leukocyte adhesion deficiency 3 [RCV001322061] | uncertain significance | 11 | 64211404 | 64211404 | Human | 1 | name |
| 126754746 | CV1009810 | single nucleotide variant | NM_031471.6(FERMT3):c.706C>T (p.Leu236Phe) | Leukocyte adhesion deficiency 3 [RCV001316778] | uncertain significance | 11 | 64211667 | 64211667 | Human | 1 | name |
| 126769392 | CV1030369 | single nucleotide variant | NM_031471.6(FERMT3):c.475G>A (p.Glu159Lys) | Leukocyte adhesion deficiency 3 [RCV001343899] | uncertain significance | 11 | 64211132 | 64211132 | Human | 1 | name |
| 126922096 | CV1047350 | single nucleotide variant | NM_031471.6(FERMT3):c.427C>T (p.Arg143Trp) | Leukocyte adhesion deficiency 3 [RCV001364266] | uncertain significance | 11 | 64211084 | 64211084 | Human | 1 | name |
| 151851472 | CV1362153 | single nucleotide variant | NM_031471.6(FERMT3):c.500T>C (p.Val167Ala) | Leukocyte adhesion deficiency 3 [RCV001978998] | uncertain significance | 11 | 64211157 | 64211157 | Human | 1 | name |
| 151843333 | CV1363276 | single nucleotide variant | NM_031471.6(FERMT3):c.724A>G (p.Lys242Glu) | Leukocyte adhesion deficiency 3 [RCV002032084] | uncertain significance | 11 | 64211685 | 64211685 | Human | 1 | name |
| 151826446 | CV1363531 | single nucleotide variant | NM_031471.6(FERMT3):c.479A>T (p.Glu160Val) | Leukocyte adhesion deficiency 3 [RCV002050296] | uncertain significance | 11 | 64211136 | 64211136 | Human | 1 | name |
| 151766972 | CV1367172 | single nucleotide variant | NM_031471.6(FERMT3):c.521C>T (p.Ala174Val) | Leukocyte adhesion deficiency 3 [RCV002024987] | uncertain significance | 11 | 64211281 | 64211281 | Human | 1 | name |
| 151874445 | CV1369482 | single nucleotide variant | NM_031471.6(FERMT3):c.598C>T (p.Arg200Trp) | Leukocyte adhesion deficiency 3 [RCV002036081] | uncertain significance | 11 | 64211358 | 64211358 | Human | 1 | name |
| 151782573 | CV1369845 | single nucleotide variant | NM_031471.6(FERMT3):c.938C>T (p.Pro313Leu) | Leukocyte adhesion deficiency 3 [RCV001930578] | uncertain significance | 11 | 64219567 | 64219567 | Human | 1 | name |
| 151809474 | CV1374878 | single nucleotide variant | NM_031471.6(FERMT3):c.644G>T (p.Arg215Leu) | Leukocyte adhesion deficiency 3 [RCV001933050] | uncertain significance | 11 | 64211404 | 64211404 | Human | 1 | name |
| 151878816 | CV1383561 | single nucleotide variant | NM_031471.6(FERMT3):c.772G>A (p.Asp258Asn) | Leukocyte adhesion deficiency 3 [RCV001907403] | uncertain significance | 11 | 64211733 | 64211733 | Human | 1 | name |
| 151735347 | CV1391247 | single nucleotide variant | NM_031471.6(FERMT3):c.886G>A (p.Ala296Thr) | Leukocyte adhesion deficiency 3 [RCV002005232] | uncertain significance | 11 | 64219350 | 64219350 | Human | 1 | name |
| 151797138 | CV1392749 | single nucleotide variant | NM_031471.6(FERMT3):c.481C>G (p.Leu161Val) | Leukocyte adhesion deficiency 3 [RCV001898721] | uncertain significance | 11 | 64211138 | 64211138 | Human | 1 | name |
| 151768697 | CV1410507 | single nucleotide variant | NM_031471.6(FERMT3):c.389T>G (p.Leu130Arg) | Leukocyte adhesion deficiency 3 [RCV001988034] | uncertain significance | 11 | 64210839 | 64210839 | Human | 1 | name |
| 151788417 | CV1413013 | single nucleotide variant | NM_031471.6(FERMT3):c.613C>A (p.Pro205Thr) | Leukocyte adhesion deficiency 3 [RCV001989830] | uncertain significance | 11 | 64211373 | 64211373 | Human | 1 | name |
| 151864427 | CV1416509 | single nucleotide variant | NM_031471.6(FERMT3):c.599G>A (p.Arg200Gln) | Inborn genetic diseases [RCV002563553]|Leukocyte adhesion deficiency 3 [RCV001997556] | uncertain significance | 11 | 64211359 | 64211359 | Human | 2 | name |
| 151863810 | CV1431456 | single nucleotide variant | NM_031471.6(FERMT3):c.827G>A (p.Arg276Gln) | Leukocyte adhesion deficiency 3 [RCV001924355] | uncertain significance | 11 | 64219291 | 64219291 | Human | 1 | name |
| 151816767 | CV1433214 | single nucleotide variant | NM_031471.6(FERMT3):c.698C>T (p.Ser233Leu) | Leukocyte adhesion deficiency 3 [RCV001954359] | uncertain significance | 11 | 64211659 | 64211659 | Human | 1 | name |
| 151883251 | CV1443421 | single nucleotide variant | NM_031471.6(FERMT3):c.902T>C (p.Ile301Thr) | Leukocyte adhesion deficiency 3 [RCV002037302] | uncertain significance | 11 | 64219531 | 64219531 | Human | 1 | name |
| 151832891 | CV1456094 | single nucleotide variant | NM_031471.6(FERMT3):c.307C>T (p.Arg103Trp) | Leukocyte adhesion deficiency 3 [RCV002050897] | uncertain significance | 11 | 64210757 | 64210757 | Human | 1 | name |
| 151780448 | CV1472573 | single nucleotide variant | NM_031471.6(FERMT3):c.719G>A (p.Gly240Asp) | Leukocyte adhesion deficiency 3 [RCV002026208] | uncertain significance | 11 | 64211680 | 64211680 | Human | 1 | name |
| 151796280 | CV1476369 | single nucleotide variant | NM_031471.6(FERMT3):c.790G>C (p.Asp264His) | Leukocyte adhesion deficiency 3 [RCV001931893] | uncertain significance | 11 | 64219254 | 64219254 | Human | 1 | name |
| 151719881 | CV1498182 | single nucleotide variant | NM_031471.6(FERMT3):c.765C>A (p.Ser255Arg) | Leukocyte adhesion deficiency 3 [RCV001965807] | uncertain significance | 11 | 64211726 | 64211726 | Human | 1 | name |
| 151889007 | CV1504598 | single nucleotide variant | NM_031471.6(FERMT3):c.445G>A (p.Glu149Lys) | Leukocyte adhesion deficiency 3 [RCV001963336] | uncertain significance | 11 | 64211102 | 64211102 | Human | 1 | name |
| 151735683 | CV1508882 | single nucleotide variant | NM_031471.6(FERMT3):c.409G>A (p.Glu137Lys) | Leukocyte adhesion deficiency 3 [RCV002021783]|not provided [RCV004694151] | uncertain significance | 11 | 64211066 | 64211066 | Human | 1 | name |
| 155266127 | CV1696231 | single nucleotide variant | NM_031471.6(FERMT3):c.593T>C (p.Leu198Pro) | Leukocyte adhesion deficiency 3 [RCV002281006] | uncertain significance | 11 | 64211353 | 64211353 | Human | 1 | name |
| 8556967 | CV17750 | single nucleotide variant | NM_031471.6(FERMT3):c.687G>A (p.Trp229Ter) | Leukocyte adhesion deficiency 3 [RCV000002830] | pathogenic | 11 | 64211648 | 64211648 | Human | 1 | name |
| 156102087 | CV1907180 | single nucleotide variant | NM_031471.6(FERMT3):c.964G>A (p.Asp322Asn) | Leukocyte adhesion deficiency 3 [RCV003080640] | uncertain significance | 11 | 64219593 | 64219593 | Human | 1 | name |
| 156415268 | CV1962033 | single nucleotide variant | NM_031471.6(FERMT3):c.730G>A (p.Gly244Arg) | Leukocyte adhesion deficiency 3 [RCV002589070] | uncertain significance | 11 | 64211691 | 64211691 | Human | 1 | name |
| 156319107 | CV1971579 | single nucleotide variant | NM_031471.6(FERMT3):c.748C>T (p.Arg250Cys) | Leukocyte adhesion deficiency 3 [RCV002630230] | uncertain significance | 11 | 64211709 | 64211709 | Human | 1 | name |
| 156323753 | CV1976399 | single nucleotide variant | NM_031471.6(FERMT3):c.700C>T (p.Arg234Trp) | Inborn genetic diseases [RCV004617047]|Leukocyte adhesion deficiency 3 [RCV002600399] | uncertain significance | 11 | 64211661 | 64211661 | Human | 2 | name |
| 156386133 | CV1986394 | single nucleotide variant | NM_031471.6(FERMT3):c.984C>A (p.Ser328Arg) | Leukocyte adhesion deficiency 3 [RCV002634624] | uncertain significance | 11 | 64219613 | 64219613 | Human | 1 | name |
| 156372819 | CV2003602 | single nucleotide variant | NM_031471.6(FERMT3):c.313C>T (p.Pro105Ser) | Leukocyte adhesion deficiency 3 [RCV002653045] | uncertain significance | 11 | 64210763 | 64210763 | Human | 1 | name |
| 156399186 | CV2013151 | single nucleotide variant | NM_031471.6(FERMT3):c.749G>A (p.Arg250His) | Leukocyte adhesion deficiency 3 [RCV002725851] | uncertain significance | 11 | 64211710 | 64211710 | Human | 1 | name |
| 156320095 | CV2025278 | single nucleotide variant | NM_031471.6(FERMT3):c.431C>G (p.Ala144Gly) | Leukocyte adhesion deficiency 3 [RCV002717033] | uncertain significance | 11 | 64211088 | 64211088 | Human | 1 | name |
| 156225963 | CV2048345 | single nucleotide variant | NM_031471.6(FERMT3):c.749G>T (p.Arg250Leu) | Leukocyte adhesion deficiency 3 [RCV002790814] | uncertain significance | 11 | 64211710 | 64211710 | Human | 1 | name |
| 156230626 | CV2048662 | single nucleotide variant | NM_031471.6(FERMT3):c.737C>T (p.Ala246Val) | Leukocyte adhesion deficiency 3 [RCV002790984] | uncertain significance | 11 | 64211698 | 64211698 | Human | 1 | name |
| 156379765 | CV2060685 | single nucleotide variant | NM_031471.6(FERMT3):c.444G>C (p.Lys148Asn) | Leukocyte adhesion deficiency 3 [RCV002814996] | uncertain significance | 11 | 64211101 | 64211101 | Human | 1 | name |
| 156338800 | CV2106646 | single nucleotide variant | NM_031471.6(FERMT3):c.323G>A (p.Arg108His) | Leukocyte adhesion deficiency 3 [RCV002938782] | uncertain significance | 11 | 64210773 | 64210773 | Human | 1 | name |
| 155937868 | CV2110453 | single nucleotide variant | NM_031471.6(FERMT3):c.619C>G (p.Pro207Ala) | Leukocyte adhesion deficiency 3 [RCV002904265] | uncertain significance | 11 | 64211379 | 64211379 | Human | 1 | name |
| 156270233 | CV2135276 | single nucleotide variant | NM_031471.6(FERMT3):c.643C>T (p.Arg215Trp) | Leukocyte adhesion deficiency 3 [RCV002988796] | uncertain significance | 11 | 64211403 | 64211403 | Human | 1 | name |
| 156228052 | CV2140780 | single nucleotide variant | NM_031471.6(FERMT3):c.544C>T (p.Pro182Ser) | Leukocyte adhesion deficiency 3 [RCV003007636] | uncertain significance | 11 | 64211304 | 64211304 | Human | 1 | name |
| 156073280 | CV2299187 | single nucleotide variant | NM_031471.6(FERMT3):c.392T>G (p.Leu131Arg) | Inborn genetic diseases [RCV002887007] | uncertain significance | 11 | 64210842 | 64210842 | Human | 1 | name |
| 156062299 | CV2316474 | single nucleotide variant | NM_031471.6(FERMT3):c.485A>G (p.Tyr162Cys) | Inborn genetic diseases [RCV002911862] | uncertain significance | 11 | 64211142 | 64211142 | Human | 1 | name |
| 156068212 | CV2317973 | single nucleotide variant | NM_031471.6(FERMT3):c.826C>T (p.Arg276Trp) | Inborn genetic diseases [RCV002925461] | uncertain significance | 11 | 64219290 | 64219290 | Human | 1 | name |
| 156062866 | CV2321032 | single nucleotide variant | NM_031471.6(FERMT3):c.385C>T (p.Arg129Cys) | Inborn genetic diseases [RCV002925158] | uncertain significance | 11 | 64210835 | 64210835 | Human | 1 | name |
| 329401879 | CV2457969 | single nucleotide variant | NM_031471.6(FERMT3):c.701G>A (p.Arg234Gln) | Inborn genetic diseases [RCV003198920] | uncertain significance | 11 | 64211662 | 64211662 | Human | 1 | name |
| 401749333 | CV2704605 | single nucleotide variant | NM_031471.6(FERMT3):c.450G>C (p.Lys150Asn) | Inborn genetic diseases [RCV003294863] | uncertain significance | 11 | 64211107 | 64211107 | Human | 1 | name |
| 11639631 | CV271610 | single nucleotide variant | NM_031471.6(FERMT3):c.568C>G (p.Gln190Glu) | FERMT3-related disorder [RCV003949896]|Leukocyte adhesion deficiency 3 [RCV001217090]|not provided [RCV000323465] | uncertain significance | 11 | 64211328 | 64211328 | Human | 1 | name , trait , alternate_id |
| 401763703 | CV2725263 | single nucleotide variant | NM_031471.6(FERMT3):c.796G>A (p.Val266Met) | Inborn genetic diseases [RCV003258299] | uncertain significance | 11 | 64219260 | 64219260 | Human | 1 | name |
| 405106758 | CV2916341 | deletion | NM_031471.6(FERMT3):c.1790del (p.Asn597fs) | Leukocyte adhesion deficiency 3 [RCV003498405] | uncertain significance | 11 | 64223166 | 64223166 | Human | 1 | name |
| 405007841 | CV2991897 | single nucleotide variant | NM_031471.6(FERMT3):c.511G>A (p.Gly171Arg) | Leukocyte adhesion deficiency 3 [RCV003606515] | uncertain significance | 11 | 64211168 | 64211168 | Human | 1 | name |
| 407483993 | CV3439018 | single nucleotide variant | NM_031471.6(FERMT3):c.491T>G (p.Leu164Trp) | Inborn genetic diseases [RCV004618659] | uncertain significance | 11 | 64211148 | 64211148 | Human | 1 | name |
| 407483998 | CV3439019 | single nucleotide variant | NM_031471.6(FERMT3):c.838C>A (p.Leu280Met) | Inborn genetic diseases [RCV004618660] | uncertain significance | 11 | 64219302 | 64219302 | Human | 1 | name |
| 408390160 | CV3524955 | single nucleotide variant | NM_031471.6(FERMT3):c.401G>A (p.Arg134Gln) | not provided [RCV004769850] | uncertain significance | 11 | 64211058 | 64211058 | Human | | name |
| 597653243 | CV3672458 | single nucleotide variant | NM_031471.6(FERMT3):c.512G>A (p.Gly171Glu) | Inborn genetic diseases [RCV004975025] | uncertain significance | 11 | 64211169 | 64211169 | Human | 1 | name |
| 597873659 | CV3747360 | single nucleotide variant | NM_031471.6(FERMT3):c.832G>C (p.Asp278His) | Leukocyte adhesion deficiency 3 [RCV005069044] | uncertain significance | 11 | 64219296 | 64219296 | Human | 1 | name |
| 597966844 | CV3794338 | single nucleotide variant | NM_031471.6(FERMT3):c.733G>C (p.Asp245His) | Leukocyte adhesion deficiency 3 [RCV005140514] | uncertain significance | 11 | 64211694 | 64211694 | Human | 1 | name |
| 598240765 | CV3959306 | single nucleotide variant | NM_031471.6(FERMT3):c.523C>T (p.Pro175Ser) | Inborn genetic diseases [RCV005344233] | uncertain significance | 11 | 64211283 | 64211283 | Human | 1 | name |
| 8568512 | CV39644 | deletion | NM_031471.6(FERMT3):c.1275del (p.Glu426fs) | Leukocyte adhesion deficiency 3 [RCV000023665] | pathogenic | 11 | 64220290 | 64220290 | Human | 1 | name |
| 13482864 | CV461255 | single nucleotide variant | NM_031471.6(FERMT3):c.941C>T (p.Ala314Val) | Leukocyte adhesion deficiency 3 [RCV000552041] | uncertain significance | 11 | 64219570 | 64219570 | Human | 1 | name |
| 13619466 | CV526321 | single nucleotide variant | NM_031471.6(FERMT3):c.607C>T (p.Pro203Ser) | Inborn genetic diseases [RCV003343973]|Leukocyte adhesion deficiency 3 [RCV000646738] | likely benign|uncertain significance | 11 | 64211367 | 64211367 | Human | 2 | name |
| 13619465 | CV526836 | single nucleotide variant | NM_031471.6(FERMT3):c.320G>A (p.Arg107His) | FERMT3-related disorder [RCV004755999]|Inborn genetic diseases [RCV002530483]|Leukocyte adhesion deficiency 3 [RCV000646737]|not provided [RCV004705750] | likely benign|uncertain significance | 11 | 64210770 | 64210770 | Human | 2 | name , trait , alternate_id |
| 13619454 | CV526847 | single nucleotide variant | NM_031471.6(FERMT3):c.536G>A (p.Arg179Gln) | Leukocyte adhesion deficiency 3 [RCV000646729] | uncertain significance | 11 | 64211296 | 64211296 | Human | 1 | name |
| 13802293 | CV564793 | single nucleotide variant | NM_031471.6(FERMT3):c.298G>A (p.Val100Ile) | Leukocyte adhesion deficiency 3 [RCV000707414] | uncertain significance | 11 | 64210748 | 64210748 | Human | 1 | name |
| 13802240 | CV564795 | single nucleotide variant | NM_031471.6(FERMT3):c.849G>T (p.Glu283Asp) | Leukocyte adhesion deficiency 3 [RCV000687389] | uncertain significance | 11 | 64219313 | 64219313 | Human | 1 | name |
| 13802260 | CV565945 | single nucleotide variant | NM_031471.6(FERMT3):c.386G>A (p.Arg129His) | Leukocyte adhesion deficiency 3 [RCV000698068] | uncertain significance | 11 | 64210836 | 64210836 | Human | 1 | name |
| 13802263 | CV565948 | single nucleotide variant | NM_031471.6(FERMT3):c.634C>T (p.Arg212Cys) | Leukocyte adhesion deficiency 3 [RCV000699563] | uncertain significance | 11 | 64211394 | 64211394 | Human | 1 | name |
| 13802278 | CV567407 | single nucleotide variant | NM_031471.6(FERMT3):c.922G>A (p.Gly308Arg) | Leukocyte adhesion deficiency 3 [RCV000702881] | uncertain significance | 11 | 64219551 | 64219551 | Human | 1 | name |
| 13802275 | CV570766 | single nucleotide variant | NM_031471.6(FERMT3):c.332G>A (p.Arg111His) | Leukocyte adhesion deficiency 3 [RCV000701213]|Leukocyte adhesion deficiency [RCV002466570]|not provided [RCV001529981] | uncertain significance | 11 | 64210782 | 64210782 | Human | 2 | name |
| 14398979 | CV614361 | single nucleotide variant | NM_031471.6(FERMT3):c.331C>T (p.Arg111Cys) | Inborn genetic diseases [RCV002536597]|Leukocyte adhesion deficiency 3 [RCV000767975] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 11 | 64210781 | 64210781 | Human | 2 | name |
| 14398982 | CV614363 | single nucleotide variant | NM_031471.6(FERMT3):c.736G>A (p.Ala246Thr) | FERMT3-related disorder [RCV003892690]|Inborn genetic diseases [RCV002533929]|Leukocyte adhesion deficiency 3 [RCV000767978]|not provided [RCV002293478] | benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance | 11 | 64211697 | 64211697 | Human | 2 | name , trait , alternate_id |
| 14737282 | CV640238 | single nucleotide variant | NM_031471.6(FERMT3):c.517G>A (p.Val173Met) | Leukocyte adhesion deficiency 3 [RCV000820388] | uncertain significance | 11 | 64211277 | 64211277 | Human | 1 | name |
| 14737381 | CV640239 | single nucleotide variant | NM_031471.6(FERMT3):c.565G>A (p.Ala189Thr) | Leukocyte adhesion deficiency 3 [RCV000804033] | uncertain significance | 11 | 64211325 | 64211325 | Human | 1 | name |
| 14729599 | CV640242 | single nucleotide variant | NM_031471.6(FERMT3):c.901A>G (p.Ile301Val) | Leukocyte adhesion deficiency 3 [RCV000800561] | uncertain significance | 11 | 64219530 | 64219530 | Human | 1 | name |
| 14715636 | CV640243 | single nucleotide variant | NM_031471.6(FERMT3):c.992A>C (p.Glu331Ala) | Leukocyte adhesion deficiency 3 [RCV000811283] | uncertain significance | 11 | 64219621 | 64219621 | Human | 1 | name |
| 15148795 | CV724555 | single nucleotide variant | NM_031471.6(FERMT3):c.527C>T (p.Ala176Val) | FERMT3-related disorder [RCV003930468]|Inborn genetic diseases [RCV002536805]|Leukocyte adhesion deficiency 3 [RCV000879029]|not provided [RCV004718784]|not specified [RCV003330986] | benign|likely benign|uncertain significance | 11 | 64211287 | 64211287 | Human | 2 | name , trait , alternate_id |
| 26921733 | CV838682 | single nucleotide variant | NM_031471.6(FERMT3):c.536G>T (p.Arg179Leu) | Leukocyte adhesion deficiency 3 [RCV001061264] | uncertain significance | 11 | 64211296 | 64211296 | Human | 1 | name |
| 26912201 | CV838683 | single nucleotide variant | NM_031471.6(FERMT3):c.608C>T (p.Pro203Leu) | FERMT3-related disorder [RCV003411966]|Inborn genetic diseases [RCV002551438]|Leukocyte adhesion deficiency 3 [RCV001039076] | uncertain significance | 11 | 64211368 | 64211368 | Human | 2 | name , trait , alternate_id |
| 26902591 | CV838684 | single nucleotide variant | NM_031471.6(FERMT3):c.635G>A (p.Arg212His) | Inborn genetic diseases [RCV002554639]|Leukocyte adhesion deficiency 3 [RCV001071937] | uncertain significance | 11 | 64211395 | 64211395 | Human | 2 | name |
| 26896607 | CV838685 | single nucleotide variant | NM_031471.6(FERMT3):c.731G>A (p.Gly244Glu) | Inborn genetic diseases [RCV004031498]|Leukocyte adhesion deficiency 3 [RCV001048218]|not provided [RCV004693508] | uncertain significance | 11 | 64211692 | 64211692 | Human | 2 | name |
| 38474299 | CV935651 | single nucleotide variant | NM_031471.6(FERMT3):c.308G>A (p.Arg103Gln) | Leukocyte adhesion deficiency 3 [RCV001203758]|not provided [RCV004695156] | uncertain significance | 11 | 64210758 | 64210758 | Human | 1 | name |
| 38468110 | CV935652 | single nucleotide variant | NM_031471.6(FERMT3):c.325G>A (p.Ala109Thr) | Inborn genetic diseases [RCV004033873]|Leukocyte adhesion deficiency 3 [RCV001213075] | uncertain significance | 11 | 64210775 | 64210775 | Human | 2 | name |
| 38479120 | CV935653 | single nucleotide variant | NM_031471.6(FERMT3):c.535C>T (p.Arg179Trp) | Inborn genetic diseases [RCV004978098]|Leukocyte adhesion deficiency 3 [RCV001205840] | uncertain significance | 11 | 64211295 | 64211295 | Human | 2 | name |
| 38478044 | CV935654 | single nucleotide variant | NM_031471.6(FERMT3):c.967C>G (p.Leu323Val) | Leukocyte adhesion deficiency 3 [RCV001205366] | uncertain significance | 11 | 64219596 | 64219596 | Human | 1 | name |
| 38486843 | CV947553 | single nucleotide variant | NM_031471.6(FERMT3):c.616G>A (p.Asp206Asn) | Leukocyte adhesion deficiency 3 [RCV001237298] | uncertain significance | 11 | 64211376 | 64211376 | Human | 1 | name |
| 38496353 | CV947554 | single nucleotide variant | NM_031471.6(FERMT3):c.629T>A (p.Leu210His) | Inborn genetic diseases [RCV005340693]|Leukocyte adhesion deficiency 3 [RCV001226337] | uncertain significance | 11 | 64211389 | 64211389 | Human | 2 | name |
| 38476071 | CV947555 | single nucleotide variant | NM_031471.6(FERMT3):c.728C>G (p.Ala243Gly) | Leukocyte adhesion deficiency 3 [RCV001232913] | uncertain significance | 11 | 64211689 | 64211689 | Human | 1 | name |
| 38458088 | CV947556 | single nucleotide variant | NM_031471.6(FERMT3):c.862G>A (p.Glu288Lys) | Leukocyte adhesion deficiency 3 [RCV001228811] | uncertain significance | 11 | 64219326 | 64219326 | Human | 1 | name |
| 126766195 | CV994624 | single nucleotide variant | NM_031471.6(FERMT3):c.419C>T (p.Ser140Phe) | Leukocyte adhesion deficiency 3 [RCV001301789] | uncertain significance | 11 | 64211076 | 64211076 | Human | 1 | name |
| 126750234 | CV1009812 | single nucleotide variant | NM_031471.6(FERMT3):c.1364G>A (p.Arg455His) | Leukocyte adhesion deficiency 3 [RCV001326690] | uncertain significance | 11 | 64220488 | 64220488 | Human | 1 | name |
| 126762347 | CV1009813 | single nucleotide variant | NM_031471.6(FERMT3):c.1688A>G (p.Lys563Arg) | Leukocyte adhesion deficiency 3 [RCV001318908] | uncertain significance | 11 | 64223065 | 64223065 | Human | 1 | name |
| 126763135 | CV1030370 | single nucleotide variant | NM_031471.6(FERMT3):c.1030G>T (p.Asp344Tyr) | Leukocyte adhesion deficiency 3 [RCV001341166] | uncertain significance | 11 | 64219740 | 64219740 | Human | 1 | name |
| 126751357 | CV1030371 | single nucleotide variant | NM_031471.6(FERMT3):c.1119G>C (p.Trp373Cys) | Inborn genetic diseases [RCV004035858]|Leukocyte adhesion deficiency 3 [RCV001338223] | uncertain significance | 11 | 64219930 | 64219930 | Human | 2 | name |
| 126767914 | CV1030372 | single nucleotide variant | NM_031471.6(FERMT3):c.1873C>T (p.Arg625Ter) | Leukocyte adhesion deficiency 3 [RCV001343036] | uncertain significance | 11 | 64223373 | 64223373 | Human | 1 | name |
| 126914518 | CV1047351 | single nucleotide variant | NM_031471.6(FERMT3):c.1375G>A (p.Asp459Asn) | Leukocyte adhesion deficiency 3 [RCV001359568] | uncertain significance | 11 | 64220499 | 64220499 | Human | 1 | name |
| 126917753 | CV1047352 | single nucleotide variant | NM_031471.6(FERMT3):c.1445G>A (p.Gly482Asp) | Leukocyte adhesion deficiency 3 [RCV001361347] | uncertain significance | 11 | 64220569 | 64220569 | Human | 1 | name |
| 126914595 | CV1047353 | single nucleotide variant | NM_031471.6(FERMT3):c.1465G>A (p.Gly489Ser) | Inborn genetic diseases [RCV005340838]|Leukocyte adhesion deficiency 3 [RCV001359596] | uncertain significance | 11 | 64220589 | 64220589 | Human | 2 | name |
| 127303096 | CV1156772 | single nucleotide variant | NM_031471.6(FERMT3):c.1430G>A (p.Arg477His) | Inborn genetic diseases [RCV002568028]|Leukocyte adhesion deficiency 3 [RCV001515334] | benign|uncertain significance | 11 | 64220554 | 64220554 | Human | 2 | name |
| 151760573 | CV1343246 | single nucleotide variant | NM_031471.6(FERMT3):c.1819A>G (p.Ile607Val) | Leukocyte adhesion deficiency 3 [RCV002024317] | uncertain significance | 11 | 64223319 | 64223319 | Human | 1 | name |
| 151754722 | CV1343313 | single nucleotide variant | NM_031471.6(FERMT3):c.1931G>C (p.Arg644Pro) | Leukocyte adhesion deficiency 3 [RCV002043640] | uncertain significance | 11 | 64223431 | 64223431 | Human | 1 | name |
| 151861801 | CV1369413 | single nucleotide variant | NM_031471.6(FERMT3):c.1042A>G (p.Thr348Ala) | Leukocyte adhesion deficiency 3 [RCV002034448] | uncertain significance | 11 | 64219752 | 64219752 | Human | 1 | name |
| 151837251 | CV1371545 | single nucleotide variant | NM_031471.6(FERMT3):c.1439G>C (p.Ser480Thr) | Leukocyte adhesion deficiency 3 [RCV001921115] | uncertain significance | 11 | 64220563 | 64220563 | Human | 1 | name |
| 151874558 | CV1388192 | single nucleotide variant | NM_031471.6(FERMT3):c.1715A>G (p.Asn572Ser) | Leukocyte adhesion deficiency 3 [RCV001981734] | uncertain significance | 11 | 64223092 | 64223092 | Human | 1 | name |
| 151891752 | CV1394495 | single nucleotide variant | NM_031471.6(FERMT3):c.1247T>G (p.Phe416Cys) | Leukocyte adhesion deficiency 3 [RCV002039228] | uncertain significance | 11 | 64220262 | 64220262 | Human | 1 | name |
| 151761413 | CV1400610 | single nucleotide variant | NM_031471.6(FERMT3):c.1516C>A (p.Arg506Ser) | Leukocyte adhesion deficiency 3 [RCV002007908]|not provided [RCV002293546] | uncertain significance | 11 | 64220640 | 64220640 | Human | 1 | name |
| 151731167 | CV1419195 | single nucleotide variant | NM_031471.6(FERMT3):c.1867A>G (p.Ser623Gly) | Leukocyte adhesion deficiency 3 [RCV001946060] | uncertain significance | 11 | 64223367 | 64223367 | Human | 1 | name |
| 151763551 | CV1425673 | single nucleotide variant | NM_031471.6(FERMT3):c.1642G>A (p.Asp548Asn) | Leukocyte adhesion deficiency 3 [RCV001928803] | uncertain significance | 11 | 64221112 | 64221112 | Human | 1 | name |
| 151887512 | CV1426906 | single nucleotide variant | NM_031471.6(FERMT3):c.1471G>C (p.Asp491His) | Leukocyte adhesion deficiency 3 [RCV002038205] | uncertain significance | 11 | 64220595 | 64220595 | Human | 1 | name |
| 151769311 | CV1441871 | single nucleotide variant | NM_031471.6(FERMT3):c.1916C>T (p.Thr639Met) | Leukocyte adhesion deficiency 3 [RCV002025199] | uncertain significance | 11 | 64223416 | 64223416 | Human | 1 | name |
| 151804196 | CV1444128 | single nucleotide variant | NM_031471.6(FERMT3):c.1516C>T (p.Arg506Cys) | Leukocyte adhesion deficiency 3 [RCV001917986] | uncertain significance | 11 | 64220640 | 64220640 | Human | 1 | name |
| 151780727 | CV1468763 | single nucleotide variant | NM_031471.6(FERMT3):c.1108C>T (p.Arg370Cys) | Leukocyte adhesion deficiency 3 [RCV002026233] | uncertain significance | 11 | 64219919 | 64219919 | Human | 1 | name |
| 151818351 | CV1482096 | single nucleotide variant | NM_031471.6(FERMT3):c.1904T>A (p.Ile635Asn) | Leukocyte adhesion deficiency 3 [RCV002029644] | uncertain significance | 11 | 64223404 | 64223404 | Human | 1 | name |
| 151760992 | CV1502831 | single nucleotide variant | NM_031471.6(FERMT3):c.1013C>T (p.Ala338Val) | Leukocyte adhesion deficiency 3 [RCV001913979] | uncertain significance | 11 | 64219642 | 64219642 | Human | 1 | name |
| 151790680 | CV1509125 | single nucleotide variant | NM_031471.6(FERMT3):c.1726C>T (p.Arg576Cys) | Leukocyte adhesion deficiency 3 [RCV001876485] | uncertain significance | 11 | 64223103 | 64223103 | Human | 1 | name |
| 152068282 | CV1567095 | single nucleotide variant | NM_031471.6(FERMT3):c.1192C>T (p.Leu398Phe) | Leukocyte adhesion deficiency 3 [RCV002091230] | likely benign | 11 | 64220003 | 64220003 | Human | 1 | name |
| 153303845 | CV1686488 | single nucleotide variant | NM_031471.6(FERMT3):c.1613G>A (p.Arg538His) | Leukocyte adhesion deficiency 3 [RCV003101463]|not provided [RCV002261922] | uncertain significance | 11 | 64221083 | 64221083 | Human | 1 | name |
| 8556966 | CV17749 | single nucleotide variant | NM_031471.6(FERMT3):c.1717C>T (p.Arg573Ter) | Leukocyte adhesion deficiency 3 [RCV000002829] | pathogenic|likely pathogenic | 11 | 64223094 | 64223094 | Human | 1 | name |
| 8556968 | CV17751 | single nucleotide variant | NM_031471.6(FERMT3):c.1525C>T (p.Arg509Ter) | Leukocyte adhesion deficiency 3 [RCV000002831] | pathogenic | 11 | 64220649 | 64220649 | Human | 1 | name |
| 156374734 | CV1871771 | single nucleotide variant | NM_031471.6(FERMT3):c.1889A>G (p.Tyr630Cys) | Leukocyte adhesion deficiency 3 [RCV003066611] | uncertain significance | 11 | 64223389 | 64223389 | Human | 1 | name |
| 156352249 | CV1883336 | single nucleotide variant | NM_031471.6(FERMT3):c.1483G>A (p.Glu495Lys) | Leukocyte adhesion deficiency 3 [RCV003091071] | uncertain significance | 11 | 64220607 | 64220607 | Human | 1 | name |
| 156335512 | CV1905974 | single nucleotide variant | NM_031471.6(FERMT3):c.1887G>C (p.Glu629Asp) | Inborn genetic diseases [RCV004073138]|Leukocyte adhesion deficiency 3 [RCV003090042] | uncertain significance | 11 | 64223387 | 64223387 | Human | 2 | name |
| 156082929 | CV1909053 | single nucleotide variant | NM_031471.6(FERMT3):c.1718G>A (p.Arg573Gln) | Inborn genetic diseases [RCV002591640]|Leukocyte adhesion deficiency 3 [RCV002591639] | uncertain significance | 11 | 64223095 | 64223095 | Human | 2 | name |
| 156408547 | CV1911664 | single nucleotide variant | NM_031471.6(FERMT3):c.1807C>T (p.Arg603Trp) | Leukocyte adhesion deficiency 3 [RCV002607269] | uncertain significance | 11 | 64223184 | 64223184 | Human | 1 | name |
| 156367134 | CV1925608 | single nucleotide variant | NM_031471.6(FERMT3):c.1077T>G (p.Phe359Leu) | Inborn genetic diseases [RCV002633098]|Leukocyte adhesion deficiency 3 [RCV002633097] | uncertain significance | 11 | 64219787 | 64219787 | Human | 2 | name |
| 156062902 | CV1975238 | single nucleotide variant | NM_031471.6(FERMT3):c.1813G>A (p.Val605Met) | Inborn genetic diseases [RCV004973497]|Leukocyte adhesion deficiency 3 [RCV002591036] | uncertain significance | 11 | 64223313 | 64223313 | Human | 2 | name |
| 156398862 | CV1982065 | single nucleotide variant | NM_031471.6(FERMT3):c.1732G>A (p.Asp578Asn) | Leukocyte adhesion deficiency 3 [RCV002635777] | uncertain significance | 11 | 64223109 | 64223109 | Human | 1 | name |
| 156299056 | CV2001872 | single nucleotide variant | NM_031471.6(FERMT3):c.1979A>G (p.His660Arg) | Leukocyte adhesion deficiency 3 [RCV002671077] | uncertain significance | 11 | 64223479 | 64223479 | Human | 1 | name |
| 156276525 | CV2015050 | single nucleotide variant | NM_031471.6(FERMT3):c.1070G>A (p.Arg357Gln) | Leukocyte adhesion deficiency 3 [RCV002715156] | uncertain significance | 11 | 64219780 | 64219780 | Human | 1 | name |
| 156110676 | CV2038755 | single nucleotide variant | NM_031471.6(FERMT3):c.1222G>A (p.Asp408Asn) | Leukocyte adhesion deficiency 3 [RCV002761680] | uncertain significance | 11 | 64220237 | 64220237 | Human | 1 | name |
| 156007303 | CV2042436 | single nucleotide variant | NM_031471.6(FERMT3):c.1187A>G (p.Gln396Arg) | Leukocyte adhesion deficiency 3 [RCV002794909] | uncertain significance | 11 | 64219998 | 64219998 | Human | 1 | name |
| 156247735 | CV2044805 | single nucleotide variant | NM_031471.6(FERMT3):c.1352C>G (p.Ala451Gly) | Leukocyte adhesion deficiency 3 [RCV002805901] | uncertain significance | 11 | 64220476 | 64220476 | Human | 1 | name |
| 156186139 | CV2055766 | single nucleotide variant | NM_031471.6(FERMT3):c.1766G>T (p.Arg589Leu) | Leukocyte adhesion deficiency 3 [RCV002828460] | uncertain significance | 11 | 64223143 | 64223143 | Human | 1 | name |
| 156335453 | CV2057743 | single nucleotide variant | NM_031471.6(FERMT3):c.1634C>T (p.Ser545Phe) | Leukocyte adhesion deficiency 3 [RCV002810914] | uncertain significance | 11 | 64221104 | 64221104 | Human | 1 | name |
| 155939667 | CV2071507 | single nucleotide variant | NM_031471.6(FERMT3):c.1907T>A (p.Phe636Tyr) | Leukocyte adhesion deficiency 3 [RCV002861685] | uncertain significance | 11 | 64223407 | 64223407 | Human | 1 | name |
| 155972684 | CV2135852 | single nucleotide variant | NM_031471.6(FERMT3):c.1612C>T (p.Arg538Cys) | Leukocyte adhesion deficiency 3 [RCV002995703] | uncertain significance | 11 | 64221082 | 64221082 | Human | 1 | name |
| 156193304 | CV2146400 | single nucleotide variant | NM_031471.6(FERMT3):c.1202A>C (p.Lys401Thr) | Leukocyte adhesion deficiency 3 [RCV003006073] | uncertain significance | 11 | 64220013 | 64220013 | Human | 1 | name |
| 156289402 | CV2155075 | single nucleotide variant | NM_031471.6(FERMT3):c.1566A>T (p.Glu522Asp) | Leukocyte adhesion deficiency 3 [RCV003009906] | uncertain significance | 11 | 64221036 | 64221036 | Human | 1 | name |
| 156181741 | CV2155593 | single nucleotide variant | NM_031471.6(FERMT3):c.1894G>A (p.Gly632Arg) | Leukocyte adhesion deficiency 3 [RCV003005725] | uncertain significance | 11 | 64223394 | 64223394 | Human | 1 | name |
| 156364242 | CV2167003 | single nucleotide variant | NM_031471.6(FERMT3):c.1360G>A (p.Gly454Ser) | Leukocyte adhesion deficiency 3 [RCV003031774] | uncertain significance | 11 | 64220484 | 64220484 | Human | 1 | name |
| 156300890 | CV2170177 | single nucleotide variant | NM_031471.6(FERMT3):c.1448C>G (p.Pro483Arg) | Leukocyte adhesion deficiency 3 [RCV003045544] | uncertain significance | 11 | 64220572 | 64220572 | Human | 1 | name |
| 156118794 | CV2174748 | single nucleotide variant | NM_031471.6(FERMT3):c.1913C>A (p.Ser638Ter) | Leukocyte adhesion deficiency 3 [RCV003055386] | uncertain significance | 11 | 64223413 | 64223413 | Human | 1 | name |
| 156339607 | CV2271441 | single nucleotide variant | NM_031471.6(FERMT3):c.1572C>A (p.His524Gln) | Inborn genetic diseases [RCV002836143] | uncertain significance | 11 | 64221042 | 64221042 | Human | 1 | name |
| 155904852 | CV2276192 | single nucleotide variant | NM_031471.6(FERMT3):c.1433C>A (p.Thr478Lys) | Inborn genetic diseases [RCV002837055] | uncertain significance | 11 | 64220557 | 64220557 | Human | 1 | name |
| 329352250 | CV2452109 | single nucleotide variant | NM_031471.6(FERMT3):c.1429C>T (p.Arg477Cys) | Inborn genetic diseases [RCV003200315] | uncertain significance | 11 | 64220553 | 64220553 | Human | 1 | name |
| 329397937 | CV2466462 | single nucleotide variant | NM_031471.6(FERMT3):c.1225G>A (p.Val409Ile) | Inborn genetic diseases [RCV003195808] | uncertain significance | 11 | 64220240 | 64220240 | Human | 1 | name |
| 11637830 | CV271037 | single nucleotide variant | NM_031471.6(FERMT3):c.1918C>T (p.Arg640Trp) | Leukocyte adhesion deficiency 3 [RCV002519264]|not provided [RCV000292901] | uncertain significance | 11 | 64223418 | 64223418 | Human | 1 | name |
| 405110281 | CV2876685 | single nucleotide variant | NM_031471.6(FERMT3):c.1954C>T (p.Leu652Phe) | Leukocyte adhesion deficiency 3 [RCV003499174] | uncertain significance | 11 | 64223454 | 64223454 | Human | 1 | name |
| 405010948 | CV3064577 | single nucleotide variant | NM_031471.6(FERMT3):c.1747G>A (p.Asp583Asn) | Inborn genetic diseases [RCV004980984]|Leukocyte adhesion deficiency 3 [RCV003606835] | uncertain significance | 11 | 64223124 | 64223124 | Human | 2 | name |
| 402489559 | CV3182311 | single nucleotide variant | NM_031471.6(FERMT3):c.1454A>G (p.Asn485Ser) | Leukocyte adhesion deficiency 3 [RCV003876797] | uncertain significance | 11 | 64220578 | 64220578 | Human | 1 | name |
| 405744346 | CV3253372 | single nucleotide variant | NM_031471.6(FERMT3):c.1096C>G (p.Leu366Val) | Inborn genetic diseases [RCV004391823] | uncertain significance | 11 | 64219907 | 64219907 | Human | 1 | name |
| 405744349 | CV3253373 | single nucleotide variant | NM_031471.6(FERMT3):c.1175G>A (p.Gly392Glu) | Inborn genetic diseases [RCV004391824] | uncertain significance | 11 | 64219986 | 64219986 | Human | 1 | name |
| 407483988 | CV3439017 | single nucleotide variant | NM_031471.6(FERMT3):c.1514C>T (p.Pro505Leu) | Inborn genetic diseases [RCV004618658] | uncertain significance | 11 | 64220638 | 64220638 | Human | 1 | name |
| 407484003 | CV3439020 | single nucleotide variant | NM_031471.6(FERMT3):c.1295A>G (p.Tyr432Cys) | Inborn genetic diseases [RCV004618661] | uncertain significance | 11 | 64220310 | 64220310 | Human | 1 | name |
| 597653246 | CV3672460 | single nucleotide variant | NM_031471.6(FERMT3):c.1687A>G (p.Lys563Glu) | Inborn genetic diseases [RCV004975026] | uncertain significance | 11 | 64223064 | 64223064 | Human | 1 | name |
| 597653253 | CV3672461 | single nucleotide variant | NM_031471.6(FERMT3):c.1148A>C (p.Tyr383Ser) | Inborn genetic diseases [RCV004975027] | uncertain significance | 11 | 64219959 | 64219959 | Human | 1 | name |
| 597953235 | CV3776324 | single nucleotide variant | NM_031471.6(FERMT3):c.1001T>C (p.Leu334Pro) | Leukocyte adhesion deficiency 3 [RCV005121452] | uncertain significance | 11 | 64219630 | 64219630 | Human | 1 | name |
| 597899350 | CV3782582 | single nucleotide variant | NM_031471.6(FERMT3):c.1910T>G (p.Leu637Arg) | Leukocyte adhesion deficiency 3 [RCV005126807] | uncertain significance | 11 | 64223410 | 64223410 | Human | 1 | name |
| 597886505 | CV3787420 | single nucleotide variant | NM_031471.6(FERMT3):c.1749C>A (p.Asp583Glu) | Leukocyte adhesion deficiency 3 [RCV005124986] | uncertain significance | 11 | 64223126 | 64223126 | Human | 1 | name |
| 597906214 | CV3856847 | single nucleotide variant | NM_031471.6(FERMT3):c.1426C>T (p.Gln476Ter) | Leukocyte adhesion deficiency 3 [RCV005202896] | pathogenic | 11 | 64220550 | 64220550 | Human | 1 | name |
| 13482328 | CV461448 | single nucleotide variant | NM_031471.6(FERMT3):c.1841A>G (p.Asn614Ser) | Leukocyte adhesion deficiency 3 [RCV000551814] | uncertain significance | 11 | 64223341 | 64223341 | Human | 1 | name |
| 13619461 | CV526362 | single nucleotide variant | NM_031471.6(FERMT3):c.1158C>G (p.Ser386Arg) | FERMT3-related disorder [RCV003953162]|Leukocyte adhesion deficiency 3 [RCV000646734]|not provided [RCV004705749] | likely benign | 11 | 64219969 | 64219969 | Human | 1 | name , trait , alternate_id |
| 13802286 | CV565955 | single nucleotide variant | NM_031471.6(FERMT3):c.1924C>T (p.Arg642Trp) | Leukocyte adhesion deficiency 3 [RCV000705954] | uncertain significance | 11 | 64223424 | 64223424 | Human | 1 | name |
| 13802266 | CV570767 | single nucleotide variant | NM_031471.6(FERMT3):c.1895G>T (p.Gly632Val) | Leukocyte adhesion deficiency 3 [RCV000699817] | uncertain significance | 11 | 64223395 | 64223395 | Human | 1 | name |
| 14730365 | CV640244 | single nucleotide variant | NM_031471.6(FERMT3):c.1237G>A (p.Gly413Ser) | Inborn genetic diseases [RCV004028042]|Leukocyte adhesion deficiency 3 [RCV000800920] | uncertain significance | 11 | 64220252 | 64220252 | Human | 2 | name |
| 14742793 | CV640245 | single nucleotide variant | NM_031471.6(FERMT3):c.1400A>G (p.Gln467Arg) | Inborn genetic diseases [RCV002535969]|Leukocyte adhesion deficiency 3 [RCV000823023] | uncertain significance | 11 | 64220524 | 64220524 | Human | 2 | name |
| 14726481 | CV640246 | single nucleotide variant | NM_031471.6(FERMT3):c.1472A>C (p.Asp491Ala) | Leukocyte adhesion deficiency 3 [RCV000799221]|not specified [RCV004526775] | uncertain significance | 11 | 64220596 | 64220596 | Human | 1 | name |
| 15173136 | CV724557 | single nucleotide variant | NM_031471.6(FERMT3):c.1393G>A (p.Glu465Lys) | Leukocyte adhesion deficiency 3 [RCV000883977]|not provided [RCV004718786] | benign | 11 | 64220517 | 64220517 | Human | 1 | name |
| 15104835 | CV724558 | single nucleotide variant | NM_031471.6(FERMT3):c.1523A>C (p.Gln508Pro) | FERMT3-related disorder [RCV003957986]|Inborn genetic diseases [RCV003344121]|Leukocyte adhesion deficiency 3 [RCV000892963] | likely benign|uncertain significance | 11 | 64220647 | 64220647 | Human | 2 | name , trait , alternate_id |
| 26890018 | CV838686 | single nucleotide variant | NM_031471.6(FERMT3):c.1165G>A (p.Glu389Lys) | Inborn genetic diseases [RCV002555861]|Leukocyte adhesion deficiency 3 [RCV001067681] | uncertain significance | 11 | 64219976 | 64219976 | Human | 2 | name |
| 26923251 | CV838687 | single nucleotide variant | NM_031471.6(FERMT3):c.1363C>T (p.Arg455Cys) | Leukocyte adhesion deficiency 3 [RCV001063618] | uncertain significance | 11 | 64220487 | 64220487 | Human | 1 | name |
| 26890483 | CV838688 | single nucleotide variant | NM_031471.6(FERMT3):c.1448C>T (p.Pro483Leu) | Inborn genetic diseases [RCV004031423]|Leukocyte adhesion deficiency 3 [RCV001046043] | uncertain significance | 11 | 64220572 | 64220572 | Human | 2 | name |
| 26921075 | CV838689 | single nucleotide variant | NM_031471.6(FERMT3):c.1504C>T (p.Leu502Phe) | Leukocyte adhesion deficiency 3 [RCV001060639] | uncertain significance | 11 | 64220628 | 64220628 | Human | 1 | name |
| 26885443 | CV838690 | single nucleotide variant | NM_031471.6(FERMT3):c.1507G>A (p.Val503Ile) | Leukocyte adhesion deficiency 3 [RCV001065452] | uncertain significance | 11 | 64220631 | 64220631 | Human | 1 | name |
| 26888850 | CV838691 | single nucleotide variant | NM_031471.6(FERMT3):c.1520T>G (p.Phe507Cys) | Leukocyte adhesion deficiency 3 [RCV001045414] | uncertain significance | 11 | 64220644 | 64220644 | Human | 1 | name |
| 26900307 | CV838692 | single nucleotide variant | NM_031471.6(FERMT3):c.1708G>A (p.Ala570Thr) | Inborn genetic diseases [RCV003160203]|Leukocyte adhesion deficiency 3 [RCV001035274] | uncertain significance | 11 | 64223085 | 64223085 | Human | 2 | name |
| 26906198 | CV838693 | single nucleotide variant | NM_031471.6(FERMT3):c.1808G>A (p.Arg603Gln) | Inborn genetic diseases [RCV004973253]|Leukocyte adhesion deficiency 3 [RCV001037329] | uncertain significance | 11 | 64223185 | 64223185 | Human | 2 | name |
| 26923773 | CV838694 | single nucleotide variant | NM_031471.6(FERMT3):c.1828G>A (p.Asp610Asn) | Leukocyte adhesion deficiency 3 [RCV001064612]|not provided [RCV004792706] | uncertain significance | 11 | 64223328 | 64223328 | Human | 1 | name |
| 34895774 | CV917091 | single nucleotide variant | NM_031471.6(FERMT3):c.1741G>A (p.Val581Met) | Leukocyte adhesion deficiency 3 [RCV001349622]|not specified [RCV001192941] | uncertain significance | 11 | 64223118 | 64223118 | Human | 1 | name |
| 38487042 | CV926313 | single nucleotide variant | NM_031471.6(FERMT3):c.1139C>T (p.Thr380Ile) | Leukocyte adhesion deficiency 3 [RCV001220582] | uncertain significance | 11 | 64219950 | 64219950 | Human | 1 | name |
| 38492342 | CV926314 | single nucleotide variant | NM_031471.6(FERMT3):c.1931G>A (p.Arg644His) | Inborn genetic diseases [RCV004032477]|Leukocyte adhesion deficiency 3 [RCV001223521] | uncertain significance | 11 | 64223431 | 64223431 | Human | 2 | name |
| 38484647 | CV935655 | single nucleotide variant | NM_031471.6(FERMT3):c.1231G>A (p.Val411Ile) | Inborn genetic diseases [RCV002561670]|Leukocyte adhesion deficiency 3 [RCV001208136] | uncertain significance | 11 | 64220246 | 64220246 | Human | 2 | name |
| 38474609 | CV935656 | single nucleotide variant | NM_031471.6(FERMT3):c.1361G>A (p.Gly454Asp) | Leukocyte adhesion deficiency 3 [RCV001203893] | uncertain significance | 11 | 64220485 | 64220485 | Human | 1 | name |
| 38483468 | CV935657 | single nucleotide variant | NM_031471.6(FERMT3):c.1501G>A (p.Gly501Ser) | Leukocyte adhesion deficiency 3 [RCV001207660] | uncertain significance | 11 | 64220625 | 64220625 | Human | 1 | name |
| 38469911 | CV947557 | single nucleotide variant | NM_031471.6(FERMT3):c.1301G>A (p.Arg434Gln) | Leukocyte adhesion deficiency 3 [RCV001230850] | uncertain significance | 11 | 64220316 | 64220316 | Human | 1 | name |
| 38497937 | CV947558 | single nucleotide variant | NM_031471.6(FERMT3):c.1712A>T (p.Asn571Ile) | Leukocyte adhesion deficiency 3 [RCV001227445] | uncertain significance | 11 | 64223089 | 64223089 | Human | 1 | name |
| 156214118 | CV2087369 | deletion | NM_031471.6(FERMT3):c.847_853del (p.Glu283fs) | Leukocyte adhesion deficiency 3 [RCV002852944] | pathogenic | 11 | 64219310 | 64219316 | Human | 1 | name |
| 13619458 | CV526360 | microsatellite | NM_031471.6(FERMT3):c.447GAA[3] (p.Lys153del) | Leukocyte adhesion deficiency 3 [RCV000646731] | uncertain significance | 11 | 64211103 | 64211105 | Human | | name |
| 14721619 | CV640240 | deletion | NM_031471.6(FERMT3):c.664_665del (p.Lys222fs) | Leukocyte adhesion deficiency 3 [RCV000797176] | pathogenic | 11 | 64211424 | 64211425 | Human | 1 | name |
| 26923430 | CV838681 | microsatellite | NM_031471.6(FERMT3):c.439AAG[1] (p.Lys148del) | Leukocyte adhesion deficiency 3 [RCV001063972] | uncertain significance | 11 | 64211094 | 64211096 | Human | | name |
| 401873137 | CV2752030 | microsatellite | NM_031471.6(FERMT3):c.1601_1602del (p.Glu534fs) | Leukocyte adhesion deficiency 3 [RCV003335907] | pathogenic | 11 | 64221069 | 64221070 | Human | | name |
| 14722970 | CV640247 | deletion | NM_031471.6(FERMT3):c.1658_1659del (p.Tyr553fs) | Leukocyte adhesion deficiency 3 [RCV000797769] | uncertain significance | 11 | 64221127 | 64221128 | Human | 1 | name |
| 38475657 | CV926312 | indel | NM_031471.6(FERMT3):c.104_105delinsTA (p.Arg35Leu) | Leukocyte adhesion deficiency 3 [RCV001215278] | uncertain significance | 11 | 64207468 | 64207469 | Human | | name |
| 155960677 | CV2023612 | indel | NM_031471.6(FERMT3):c.1917_1918delinsAG (p.Arg640Gly) | Leukocyte adhesion deficiency 3 [RCV002731160] | uncertain significance | 11 | 64223417 | 64223418 | Human | | name |
| 405108301 | CV2922619 | deletion | NM_031471.6(FERMT3):c.1469_1504del (p.Pro490_Gly501del) | Leukocyte adhesion deficiency 3 [RCV003498772] | uncertain significance | 11 | 64220587 | 64220622 | Human | 1 | name |