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Pathways
Variants search result for Homo sapiens
(View Results for all Objects and Ontologies)


552 records found for search term Fermt3
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
8568511CV39643single nucleotide variantFERMT3, GLY308ARGLEUKOCYTE ADHESION DEFICIENCY, TYPE III [RCV000023664]|Leukocyte adhesion deficiency, type III [RCV000023664]pathogenicHumanname
127282748CV1078432single nucleotide variantNM_031471.6(FERMT3):c.161-6C>TLeukocyte adhesion deficiency 3 [RCV001411337]likely benign116421060564210605Human1name
127265120CV1078433single nucleotide variantNM_031471.6(FERMT3):c.684-8C>TLeukocyte adhesion deficiency 3 [RCV001403490]likely benign116421163764211637Human1name
127284345CV1100157single nucleotide variantNM_031471.6(FERMT3):c.161-5C>TLeukocyte adhesion deficiency 3 [RCV001449343]likely benign116421060664210606Human1name
127260523CV1100161single nucleotide variantNM_031471.6(FERMT3):c.684-9G>ALeukocyte adhesion deficiency 3 [RCV001438602]likely benign116421163664211636Human1name
127236689CV1100163single nucleotide variantNM_031471.6(FERMT3):c.786+8G>ALeukocyte adhesion deficiency 3 [RCV001433393]likely benign116421175564211755Human1name
127327161CV1142498single nucleotide variantNM_031471.6(FERMT3):c.786+7C>TLeukocyte adhesion deficiency 3 [RCV001486240]likely benign116421175464211754Human1name
127324979CV1142499single nucleotide variantNM_031471.6(FERMT3):c.787-7G>ALeukocyte adhesion deficiency 3 [RCV001505836]likely benign116421924464219244Human1name
127319538CV1156770single nucleotide variantNM_031471.6(FERMT3):c.895-4C>TLeukocyte adhesion deficiency 3 [RCV001522183]|not provided [RCV001720294]benign116421952064219520Human1name
151760477CV1343233single nucleotide variantNM_031471.6(FERMT3):c.787-8C>ALeukocyte adhesion deficiency 3 [RCV002024307]uncertain significance116421924364219243Human1name
151738022CV1389937single nucleotide variantNM_031471.6(FERMT3):c.894+9C>TLeukocyte adhesion deficiency 3 [RCV001892985]uncertain significance116421936764219367Human1name
152080791CV1580083single nucleotide variantNM_031471.6(FERMT3):c.787-8C>GLeukocyte adhesion deficiency 3 [RCV002076340]likely benign116421924364219243Human1name
152040071CV1592919single nucleotide variantNM_031471.6(FERMT3):c.787-9C>TLeukocyte adhesion deficiency 3 [RCV002188123]likely benign116421924264219242Human1name
152033557CV1610392duplicationNM_031471.6(FERMT3):c.787-8dupLeukocyte adhesion deficiency 3 [RCV002124954]benign116421923764219238Human1name
152097658CV1616152deletionNM_031471.6(FERMT3):c.787-8delLeukocyte adhesion deficiency 3 [RCV002132847]benign116421923864219238Human1name
156126946CV1969468single nucleotide variantNM_031471.6(FERMT3):c.894+9C>ALeukocyte adhesion deficiency 3 [RCV002593346]likely benign116421936764219367Human1name
155936056CV2125698single nucleotide variantNM_031471.6(FERMT3):c.684-1G>ALeukocyte adhesion deficiency 3 [RCV002970954]likely pathogenic116421164464211644Human1name
405108182CV2928688single nucleotide variantNM_031471.6(FERMT3):c.684-6G>TLeukocyte adhesion deficiency 3 [RCV003498745]likely benign116421163964211639Human1name
405003375CV2956280single nucleotide variantNM_031471.6(FERMT3):c.515-7A>TLeukocyte adhesion deficiency 3 [RCV003606066]benign116421126864211268Human1name
405008870CV3042873single nucleotide variantNM_031471.6(FERMT3):c.895-5C>TLeukocyte adhesion deficiency 3 [RCV003606623]likely benign116421951964219519Human1name
405234798CV3168442single nucleotide variantNM_031471.6(FERMT3):c.786+1G>TLeukocyte adhesion deficiency 3 [RCV003865916]likely pathogenic116421174864211748Human1name
597837024CV3761429single nucleotide variantNM_031471.6(FERMT3):c.161-7C>TLeukocyte adhesion deficiency 3 [RCV005085800]likely benign116421060464210604Human1name
597961076CV3812038single nucleotide variantNM_031471.6(FERMT3):c.683+8C>GLeukocyte adhesion deficiency 3 [RCV005163691]likely benign116421145164211451Human1name
597957964CV3849025single nucleotide variantNM_031471.6(FERMT3):c.515-8C>ALeukocyte adhesion deficiency 3 [RCV005192026]likely benign116421126764211267Human1name
8568893CV40201single nucleotide variantNM_031471.6(FERMT3):c.161-2A>CLeukocyte adhesion deficiency 3 [RCV000024239]pathogenic116421060964210609Human1name
15148802CV730779single nucleotide variantNM_031471.6(FERMT3):c.684-5C>GFERMT3-related disorder [RCV003908378]|Leukocyte adhesion deficiency 3 [RCV000879030]benign116421164064211640Human1name , trait , alternate_id
15106178CV730781single nucleotide variantNM_031471.6(FERMT3):c.787-8C>TLeukocyte adhesion deficiency 3 [RCV001432771]likely benign116421924364219243Human1name
15185115CV744726single nucleotide variantNM_031471.6(FERMT3):c.515-5T>ALeukocyte adhesion deficiency 3 [RCV000908439]|not provided [RCV003396540]|not specified [RCV004702516]likely benign|uncertain significance116421127064211270Human1name
25327772CV816319single nucleotide variantNM_031471.6(FERMT3):c.514+4A>GLeukocyte adhesion deficiency 3 [RCV003224512]uncertain significance116421117564211175Human1name
38483355CV960001single nucleotide variantNM_031471.6(FERMT3):c.683+5A>CLeukocyte adhesion deficiency 3 [RCV001235890]uncertain significance116421144864211448Human1name
127231383CV1078435single nucleotide variantNM_031471.6(FERMT3):c.894+10G>ALeukocyte adhesion deficiency 3 [RCV001413083]likely benign116421936864219368Human1name
127259425CV1078437single nucleotide variantNM_031471.6(FERMT3):c.1030-9C>GLeukocyte adhesion deficiency 3 [RCV001419797]likely benign116421973164219731Human1name
127257506CV1078439single nucleotide variantNM_031471.6(FERMT3):c.1079+8G>TLeukocyte adhesion deficiency 3 [RCV001419316]likely benign116421979764219797Human1name
127282185CV1078441single nucleotide variantNM_031471.6(FERMT3):c.1312-6G>ALeukocyte adhesion deficiency 3 [RCV001410981]likely benign116422043064220430Human1name
127254957CV1100160single nucleotide variantNM_031471.6(FERMT3):c.683+20C>TLeukocyte adhesion deficiency 3 [RCV001426406]likely benign116421146364211463Human1name
127278834CV1100166single nucleotide variantNM_031471.6(FERMT3):c.1080-5C>TLeukocyte adhesion deficiency 3 [RCV001445354]|not specified [RCV002509683]likely benign|uncertain significance116421988664219886Human1name
127302488CV1121661single nucleotide variantNM_031471.6(FERMT3):c.395-10C>TLeukocyte adhesion deficiency 3 [RCV001454454]likely benign116421104264211042Human1name
127321085CV1121663single nucleotide variantNM_031471.6(FERMT3):c.683+18G>ALeukocyte adhesion deficiency 3 [RCV001467140]|not specified [RCV003388018]likely benign116421146164211461Human1name
127308863CV1121665single nucleotide variantNM_031471.6(FERMT3):c.895-19T>CLeukocyte adhesion deficiency 3 [RCV001463405]likely benign116421950564219505Human1name
127306415CV1121668single nucleotide variantNM_031471.6(FERMT3):c.1312-7C>TLeukocyte adhesion deficiency 3 [RCV001462776]likely benign116422042964220429Human1name
127312888CV1156768single nucleotide variantNM_031471.6(FERMT3):c.161-11G>ALeukocyte adhesion deficiency 3 [RCV001519095]benign116421060064210600Human1name
151739018CV1437525single nucleotide variantNM_031471.6(FERMT3):c.1545+5C>TLeukocyte adhesion deficiency 3 [RCV001870832]uncertain significance116422067464220674Human1name
152117602CV1522134single nucleotide variantNM_031471.6(FERMT3):c.894+16G>ALeukocyte adhesion deficiency 3 [RCV002081105]likely benign116421937464219374Human1name
152161395CV1534740single nucleotide variantNM_031471.6(FERMT3):c.787-12C>TLeukocyte adhesion deficiency 3 [RCV002140982]likely benign116421923964219239Human1name
152133615CV1545032single nucleotide variantNM_031471.6(FERMT3):c.1311+9G>ALeukocyte adhesion deficiency 3 [RCV002177131]likely benign116422033564220335Human1name
152149624CV1545424single nucleotide variantNM_031471.6(FERMT3):c.160+17C>GLeukocyte adhesion deficiency 3 [RCV002121559]likely benign116420754164207541Human1name
152154996CV1556696single nucleotide variantNM_031471.6(FERMT3):c.161-12C>TLeukocyte adhesion deficiency 3 [RCV002122297]likely benign116421059964210599Human1name
152164189CV1560518single nucleotide variantNM_031471.6(FERMT3):c.394+12G>ALeukocyte adhesion deficiency 3 [RCV002160198]likely benign116421085664210856Human1name
152110756CV1564103single nucleotide variantNM_031471.6(FERMT3):c.160+11G>ALeukocyte adhesion deficiency 3 [RCV002174303]likely benign116420753564207535Human1name
152084772CV1622940single nucleotide variantNM_031471.6(FERMT3):c.683+19C>GLeukocyte adhesion deficiency 3 [RCV002113236]likely benign116421146264211462Human1name
152135806CV1624610single nucleotide variantNM_031471.6(FERMT3):c.1205-7C>TLeukocyte adhesion deficiency 3 [RCV002177401]likely benign116422021364220213Human1name
152089351CV1654654single nucleotide variantNM_031471.6(FERMT3):c.683+17C>GLeukocyte adhesion deficiency 3 [RCV002212508]likely benign116421146064211460Human1name
8556964CV17747single nucleotide variantNM_031471.6(FERMT3):c.1671-2A>GLeukocyte adhesion deficiency 3 [RCV000002827]pathogenic116422304664223046Human1name
156257725CV1875462single nucleotide variantNM_031471.6(FERMT3):c.1029+6G>TLeukocyte adhesion deficiency 3 [RCV003060248]uncertain significance116421966464219664Human1name
156363547CV1881526single nucleotide variantNM_031471.6(FERMT3):c.786+18G>ALeukocyte adhesion deficiency 3 [RCV003065795]likely benign116421176564211765Human1name
156329268CV1887593single nucleotide variantNM_031471.6(FERMT3):c.514+20G>ALeukocyte adhesion deficiency 3 [RCV003089691]likely benign116421119164211191Human1name
156405007CV1919145single nucleotide variantNM_031471.6(FERMT3):c.394+19T>GLeukocyte adhesion deficiency 3 [RCV002585553]likely benign116421086364210863Human1name
156449445CV1945046single nucleotide variantNM_031471.6(FERMT3):c.894+20G>ALeukocyte adhesion deficiency 3 [RCV003121567]likely benign116421937864219378Human1name
156227757CV1958932single nucleotide variantNM_031471.6(FERMT3):c.514+15G>ALeukocyte adhesion deficiency 3 [RCV002596691]likely benign116421118664211186Human1name
156319413CV1971665single nucleotide variantNM_031471.6(FERMT3):c.1205-3C>TLeukocyte adhesion deficiency 3 [RCV002630246]uncertain significance116422021764220217Human1name
155948848CV2069007single nucleotide variantNM_031471.6(FERMT3):c.1311+6T>GLeukocyte adhesion deficiency 3 [RCV002862234]uncertain significance116422033264220332Human1name
156223680CV2115252single nucleotide variantNM_031471.6(FERMT3):c.161-20T>CLeukocyte adhesion deficiency 3 [RCV002932557]likely benign116421059164210591Human1name
156157747CV2140549single nucleotide variantNM_031471.6(FERMT3):c.394+11C>TLeukocyte adhesion deficiency 3 [RCV003004947]likely benign116421085564210855Human1name
156004300CV2166611single nucleotide variantNM_031471.6(FERMT3):c.515-10T>GLeukocyte adhesion deficiency 3 [RCV003017420]likely benign116421126564211265Human1name
405109543CV2871714single nucleotide variantNM_031471.6(FERMT3):c.514+13G>TLeukocyte adhesion deficiency 3 [RCV003499036]likely benign116421118464211184Human1name
405106987CV2909806single nucleotide variantNM_031471.6(FERMT3):c.787-10C>TLeukocyte adhesion deficiency 3 [RCV003498455]likely benign116421924164219241Human1name
405003243CV2955711single nucleotide variantNM_031471.6(FERMT3):c.1812+8C>TLeukocyte adhesion deficiency 3 [RCV003606049]likely benign116422319764223197Human1name
405009292CV3044425single nucleotide variantNM_031471.6(FERMT3):c.514+17G>ALeukocyte adhesion deficiency 3 [RCV003606695]likely benign116421118864211188Human1name
405011087CV3064828single nucleotide variantNM_031471.6(FERMT3):c.161-16C>TLeukocyte adhesion deficiency 3 [RCV003606849]likely benign116421059564210595Human1name
405117243CV3115896single nucleotide variantNM_031471.6(FERMT3):c.515-16C>GLeukocyte adhesion deficiency 3 [RCV003814386]likely benign116421125964211259Human1name
405234965CV3168545single nucleotide variantNM_031471.6(FERMT3):c.786+16G>ALeukocyte adhesion deficiency 3 [RCV003866019]likely benign116421176364211763Human1name
597857613CV3755749single nucleotide variantNM_031471.6(FERMT3):c.394+20C>GLeukocyte adhesion deficiency 3 [RCV005088900]likely benign116421086464210864Human1name
597847798CV3762086single nucleotide variantNM_031471.6(FERMT3):c.787-13C>TLeukocyte adhesion deficiency 3 [RCV005087504]likely benign116421923864219238Human1name
597914706CV3778895single nucleotide variantNM_031471.6(FERMT3):c.1030-7C>TLeukocyte adhesion deficiency 3 [RCV005129240]likely benign116421973364219733Human1name
597959120CV3797482single nucleotide variantNM_031471.6(FERMT3):c.1204+1G>TLeukocyte adhesion deficiency 3 [RCV005138169]likely pathogenic116422001664220016Human1name
597861188CV3813495single nucleotide variantNM_031471.6(FERMT3):c.515-11C>GLeukocyte adhesion deficiency 3 [RCV005146757]likely benign116421126464211264Human1name
597976277CV3829299single nucleotide variantNM_031471.6(FERMT3):c.683+17C>TLeukocyte adhesion deficiency 3 [RCV005169748]likely benign116421146064211460Human1name
12896463CV390006single nucleotide variantNM_031471.6(FERMT3):c.787-10C>ALeukocyte adhesion deficiency 3 [RCV001518718]|not provided [RCV001707692]|not specified [RCV000455375]benign116421924164219241Human1name
12895972CV390075single nucleotide variantNM_031471.6(FERMT3):c.161-16C>GLeukocyte adhesion deficiency 3 [RCV001515579]|not provided [RCV001683490]|not specified [RCV000454704]benign116421059564210595Human1name
13619464CV526570single nucleotide variantNM_031471.6(FERMT3):c.684-10C>GLeukocyte adhesion deficiency 3 [RCV000646736]benign116421163564211635Human1name
13619468CV526571single nucleotide variantNM_031471.6(FERMT3):c.1080-4G>ALeukocyte adhesion deficiency 3 [RCV001425618]likely benign116421988764219887Human1name
14730917CV652554single nucleotide variantNM_031471.6(FERMT3):c.1029+2T>CLeukocyte adhesion deficiency 3 [RCV000801162]pathogenic116421966064219660Human1name
15186318CV730780single nucleotide variantNM_031471.6(FERMT3):c.786+10G>TLeukocyte adhesion deficiency 3 [RCV000886942]likely benign116421175764211757Human1name
15201894CV760075single nucleotide variantNM_031471.6(FERMT3):c.160+10C>TLeukocyte adhesion deficiency 3 [RCV000913278]likely benign116420753464207534Human1name
15142589CV760079single nucleotide variantNM_031471.6(FERMT3):c.684-10C>TLeukocyte adhesion deficiency 3 [RCV000922046]likely benign116421163564211635Human1name
15115967CV775863single nucleotide variantNM_031471.6(FERMT3):c.1546-5C>TLeukocyte adhesion deficiency 3 [RCV001442206]likely benign116422101164221011Human1name
15182624CV779700single nucleotide variantNM_031471.6(FERMT3):c.1546-6C>TLeukocyte adhesion deficiency 3 [RCV000974677]likely benign116422101064221010Human1name
38481681CV941004single nucleotide variantNM_031471.6(FERMT3):c.1312-2A>CLeukocyte adhesion deficiency 3 [RCV001218117]likely pathogenic116422043464220434Human1name
38497160CV960753single nucleotide variantNM_031471.6(FERMT3):c.1030-3T>CLeukocyte adhesion deficiency 3 [RCV001243005]uncertain significance116421973764219737Human1name
127271111CV1100170single nucleotide variantNM_031471.6(FERMT3):c.1813-13G>ALeukocyte adhesion deficiency 3 [RCV001441704]likely benign116422330064223300Human1name
127307317CV1142504single nucleotide variantNM_031471.6(FERMT3):c.1813-17C>TLeukocyte adhesion deficiency 3 [RCV001500430]likely benign116422329664223296Human1name
127313741CV1156771single nucleotide variantNM_031471.6(FERMT3):c.1030-12G>CLeukocyte adhesion deficiency 3 [RCV001519358]benign116421972864219728Human1name
127304281CV1156774single nucleotide variantNM_031471.6(FERMT3):c.1671-15C>GLeukocyte adhesion deficiency 3 [RCV001515818]|not provided [RCV001720291]benign116422303364223033Human1name
150477698CV1218663single nucleotide variantNM_031471.6(FERMT3):c.1205-51A>Tnot provided [RCV001616290]benign116422016964220169Humanname
150460666CV1234672single nucleotide variantNM_031471.6(FERMT3):c.1545+58C>Tnot provided [RCV001649254]benign116422072764220727Humanname
150512106CV1284865single nucleotide variantNM_031471.6(FERMT3):c.161-136C>Tnot provided [RCV001721734]benign116421047564210475Humanname
151817354CV1337422single nucleotide variantNM_031471.6(FERMT3):c.1546-12A>GLeukocyte adhesion deficiency 3 [RCV001919221]likely benign116422100464221004Human1name
151718642CV1509653single nucleotide variantNM_031471.6(FERMT3):c.1545+12C>TLeukocyte adhesion deficiency 3 [RCV001890733]likely benign|uncertain significance116422068164220681Human1name
152058827CV1535970single nucleotide variantNM_031471.6(FERMT3):c.1029+18G>ALeukocyte adhesion deficiency 3 [RCV002146542]likely benign116421967664219676Human1name
152081897CV1551783single nucleotide variantNM_031471.6(FERMT3):c.1029+19C>GLeukocyte adhesion deficiency 3 [RCV002092957]likely benign116421967764219677Human1name
152044832CV1556017single nucleotide variantNM_031471.6(FERMT3):c.1030-20T>CLeukocyte adhesion deficiency 3 [RCV002206805]likely benign116421972064219720Human1name
152040168CV1592976single nucleotide variantNM_031471.6(FERMT3):c.1671-14T>CLeukocyte adhesion deficiency 3 [RCV002188138]benign116422303464223034Human1name
152069907CV1600981single nucleotide variantNM_031471.6(FERMT3):c.1080-17C>TLeukocyte adhesion deficiency 3 [RCV002091444]likely benign116421987464219874Human1name
152066567CV1601680single nucleotide variantNM_031471.6(FERMT3):c.1670+10C>TLeukocyte adhesion deficiency 3 [RCV002168739]likely benign116422115064221150Human1name
152083019CV1608183single nucleotide variantNM_031471.6(FERMT3):c.1080-15C>TLeukocyte adhesion deficiency 3 [RCV002193270]likely benign116421987664219876Human1name
152073029CV1637929single nucleotide variantNM_031471.6(FERMT3):c.1205-16C>TLeukocyte adhesion deficiency 3 [RCV002192044]likely benign116422020464220204Human1name
152040592CV1644625single nucleotide variantNM_031471.6(FERMT3):c.1812+12C>TLeukocyte adhesion deficiency 3 [RCV002165630]likely benign116422320164223201Human1name
152125614CV1646206single nucleotide variantNM_031471.6(FERMT3):c.1812+18G>ALeukocyte adhesion deficiency 3 [RCV002217360]likely benign116422320764223207Human1name
152048518CV1655975single nucleotide variantNM_031471.6(FERMT3):c.1545+13G>ALeukocyte adhesion deficiency 3 [RCV002207216]benign116422068264220682Human1name
152060752CV1659738single nucleotide variantNM_031471.6(FERMT3):c.1029+14C>TLeukocyte adhesion deficiency 3 [RCV002073646]benign116421967264219672Human1name
156403796CV1871894single nucleotide variantNM_031471.6(FERMT3):c.1545+14T>CLeukocyte adhesion deficiency 3 [RCV003052685]likely benign116422068364220683Human1name
156391142CV1872784single nucleotide variantNM_031471.6(FERMT3):c.1080-16C>GLeukocyte adhesion deficiency 3 [RCV003051331]likely benign116421987564219875Human1name
156028061CV1906885single nucleotide variantNM_031471.6(FERMT3):c.1670+19C>ALeukocyte adhesion deficiency 3 [RCV003100519]likely benign116422115964221159Human1name
156381826CV1960907single nucleotide variantNM_031471.6(FERMT3):c.1029+20A>GLeukocyte adhesion deficiency 3 [RCV002583227]likely benign116421967864219678Human1name
156399268CV1984839single nucleotide variantNM_031471.6(FERMT3):c.1029+11G>CLeukocyte adhesion deficiency 3 [RCV002605444]likely benign116421966964219669Human1name
156306096CV2079800single nucleotide variantNM_031471.6(FERMT3):c.1812+13C>ALeukocyte adhesion deficiency 3 [RCV002857413]likely benign116422320264223202Human1name
156018944CV2151643single nucleotide variantNM_031471.6(FERMT3):c.1030-16T>GLeukocyte adhesion deficiency 3 [RCV003018133]likely benign116421972464219724Human1name
405105013CV2857212single nucleotide variantNM_031471.6(FERMT3):c.1312-18C>TLeukocyte adhesion deficiency 3 [RCV003498022]likely benign116422041864220418Human1name
405109739CV2879114single nucleotide variantNM_031471.6(FERMT3):c.1079+10G>TLeukocyte adhesion deficiency 3 [RCV003499072]likely benign116421979964219799Human1name
405108197CV2928753single nucleotide variantNM_031471.6(FERMT3):c.1311+10G>ALeukocyte adhesion deficiency 3 [RCV003498748]likely benign116422033664220336Human1name
405003252CV2955813single nucleotide variantNM_031471.6(FERMT3):c.1080-12C>TLeukocyte adhesion deficiency 3 [RCV003606050]likely benign116421987964219879Human1name
405005264CV2980809deletionNM_031471.6(FERMT3):c.1312-11delLeukocyte adhesion deficiency 3 [RCV003606257]benign116422042264220422Human1name
405007629CV3001573single nucleotide variantNM_031471.6(FERMT3):c.1080-18C>ALeukocyte adhesion deficiency 3 [RCV003606491]likely benign116421987364219873Human1name
405009392CV3047702single nucleotide variantNM_031471.6(FERMT3):c.1030-12G>ALeukocyte adhesion deficiency 3 [RCV003606705]likely benign116421972864219728Human1name
405009763CV3055730single nucleotide variantNM_031471.6(FERMT3):c.1545+17G>CLeukocyte adhesion deficiency 3 [RCV003606743]likely benign116422068664220686Human1name
405010682CV3057208single nucleotide variantNM_031471.6(FERMT3):c.1671-19C>GLeukocyte adhesion deficiency 3 [RCV003606809]likely benign116422302964223029Human1name
405011642CV3078329single nucleotide variantNM_031471.6(FERMT3):c.1671-18T>ALeukocyte adhesion deficiency 3 [RCV003606907]likely benign116422303064223030Human1name
405184464CV3147974duplicationNM_031471.6(FERMT3):c.1311+11dupLeukocyte adhesion deficiency 3 [RCV003842684]likely benign116422033464220335Human1name
402476913CV3173882single nucleotide variantNM_031471.6(FERMT3):c.1312-13C>TLeukocyte adhesion deficiency 3 [RCV003875420]likely benign116422042364220423Human1name
597919044CV3737918single nucleotide variantNM_031471.6(FERMT3):c.1671-17C>GLeukocyte adhesion deficiency 3 [RCV005074517]likely benign116422303164223031Human1name
597842010CV3752933single nucleotide variantNM_031471.6(FERMT3):c.1546-15A>GLeukocyte adhesion deficiency 3 [RCV005086662]likely benign116422100164221001Human1name
597882872CV3784164single nucleotide variantNM_031471.6(FERMT3):c.1545+18G>TLeukocyte adhesion deficiency 3 [RCV005124452]likely benign116422068764220687Human1name
597948982CV3818454single nucleotide variantNM_031471.6(FERMT3):c.1079+11G>TLeukocyte adhesion deficiency 3 [RCV005160715]likely benign116421980064219800Human1name
12896934CV390077single nucleotide variantNM_031471.6(FERMT3):c.1080-24C>Tnot provided [RCV001675898]|not specified [RCV000456019]benign116421986764219867Humanname
15139746CV775860single nucleotide variantNM_031471.6(FERMT3):c.1545+10G>ALeukocyte adhesion deficiency 3 [RCV000943603]likely benign116422067964220679Human1name
150440869CV1266984single nucleotide variantNM_031471.6(FERMT3):c.1671-218G>Anot provided [RCV001690420]benign116422283064222830Humanname
150512137CV1284872single nucleotide variantNM_031471.6(FERMT3):c.1546-148G>Anot provided [RCV001721741]benign116422086864220868Humanname
597948865CV3818422deletionNM_031471.6(FERMT3):c.787-14_788delLeukocyte adhesion deficiency 3 [RCV005160683]likely pathogenic116421923664219251Human1name
127258829CV1100156single nucleotide variantNM_031471.6(FERMT3):c.6G>A (p.Ala2=)Leukocyte adhesion deficiency 3 [RCV001438241]likely benign116420737064207370Human1name
405003283CV2962595deletionNM_031471.6(FERMT3):c.1671-4_1671delLeukocyte adhesion deficiency 3 [RCV003606055]likely pathogenic116422304264223046Human1name
405012161CV3076567single nucleotide variantNM_031471.6(FERMT3):c.9G>A (p.Gly3=)Leukocyte adhesion deficiency 3 [RCV003606959]likely benign116420737364207373Human1name
151857784CV1402082single nucleotide variantNM_031471.6(FERMT3):c.27G>T (p.Gly9=)Leukocyte adhesion deficiency 3 [RCV002017392]likely benign|uncertain significance116420739164207391Human1name
152164497CV1625369single nucleotide variantNM_031471.6(FERMT3):c.24C>T (p.Ser8=)Leukocyte adhesion deficiency 3 [RCV002160260]likely benign116420738864207388Human1name
405010789CV3060904single nucleotide variantNM_031471.6(FERMT3):c.18A>G (p.Thr6=)Leukocyte adhesion deficiency 3 [RCV003606820]likely benign116420738264207382Human1name
405293073CV3207182single nucleotide variantNM_031471.6(FERMT3):c.27G>A (p.Gly9=)FERMT3-related disorder [RCV003931585]likely benign116420739164207391Humanname , trait , alternate_id
127257670CV1078427single nucleotide variantNM_031471.6(FERMT3):c.75G>A (p.Glu25=)Leukocyte adhesion deficiency 3 [RCV001401523]likely benign116420743964207439Human1name
127276801CV1078428single nucleotide variantNM_031471.6(FERMT3):c.93G>A (p.Ser31=)Leukocyte adhesion deficiency 3 [RCV001407334]likely benign116420745764207457Human1name
127294368CV1121659single nucleotide variantNM_031471.6(FERMT3):c.42G>A (p.Ser14=)Leukocyte adhesion deficiency 3 [RCV001452225]likely benign116420740664207406Human1name
150540540CV1314665single nucleotide variantNM_031471.6(FERMT3):c.2T>C (p.Met1Thr)Leukocyte adhesion deficiency 3 [RCV001781098]likely pathogenic116420736664207366Humanname
156355745CV1894852single nucleotide variantNM_031471.6(FERMT3):c.45A>G (p.Ser15=)Leukocyte adhesion deficiency 3 [RCV003091338]likely benign116420740964207409Human1name
156248106CV1969633single nucleotide variantNM_031471.6(FERMT3):c.2T>G (p.Met1Arg)Leukocyte adhesion deficiency 3 [RCV002597377]uncertain significance116420736664207366Human1name
405109217CV2874863single nucleotide variantNM_031471.6(FERMT3):c.90G>A (p.Glu30=)Leukocyte adhesion deficiency 3 [RCV003498974]likely benign116420745464207454Human1name
405010465CV3056835single nucleotide variantNM_031471.6(FERMT3):c.36C>T (p.Ile12=)Leukocyte adhesion deficiency 3 [RCV003606786]likely benign116420740064207400Human1name
405194771CV3167691single nucleotide variantNM_031471.6(FERMT3):c.87C>T (p.Ala29=)Leukocyte adhesion deficiency 3 [RCV003860097]likely benign116420745164207451Human1name
597854648CV3825097single nucleotide variantNM_031471.6(FERMT3):c.84G>A (p.Glu28=)Leukocyte adhesion deficiency 3 [RCV005173945]likely benign116420744864207448Human1name
38456036CV935650single nucleotide variantNM_031471.6(FERMT3):c.5C>T (p.Ala2Val)Leukocyte adhesion deficiency 3 [RCV001210681]uncertain significance116420736964207369Human1name
127272167CV1078429single nucleotide variantNM_031471.6(FERMT3):c.126C>T (p.Ile42=)Leukocyte adhesion deficiency 3 [RCV001405639]likely benign116420749064207490Human1name
127263776CV1078430single nucleotide variantNM_031471.6(FERMT3):c.144G>A (p.Lys48=)Leukocyte adhesion deficiency 3 [RCV001403085]likely benign116420750864207508Human1name
127290817CV1121660single nucleotide variantNM_031471.6(FERMT3):c.120G>A (p.Ser40=)Leukocyte adhesion deficiency 3 [RCV001451349]likely benign116420748464207484Human1name
127335404CV1142496single nucleotide variantNM_031471.6(FERMT3):c.264C>T (p.Asp88=)Leukocyte adhesion deficiency 3 [RCV001491523]likely benign116421071464210714Human1name
152127531CV1554236single nucleotide variantNM_031471.6(FERMT3):c.219G>A (p.Leu73=)Leukocyte adhesion deficiency 3 [RCV002176364]likely benign116421066964210669Human1name
152083756CV1554778single nucleotide variantNM_031471.6(FERMT3):c.138C>G (p.Leu46=)Leukocyte adhesion deficiency 3 [RCV002211764]likely benign116420750264207502Human1name
152102587CV1579066single nucleotide variantNM_031471.6(FERMT3):c.129C>T (p.Gly43=)Leukocyte adhesion deficiency 3 [RCV002079183]likely benign116420749364207493Human1name
405007228CV2990641single nucleotide variantNM_031471.6(FERMT3):c.294G>A (p.Arg98=)Leukocyte adhesion deficiency 3 [RCV003606446]likely benign116421074464210744Human1name
404997620CV3012777single nucleotide variantNM_031471.6(FERMT3):c.273C>T (p.Leu91=)Leukocyte adhesion deficiency 3 [RCV003605247]likely benign116421072364210723Human1name
405000700CV3036074single nucleotide variantNM_031471.6(FERMT3):c.100C>T (p.Leu34=)Leukocyte adhesion deficiency 3 [RCV003605601]likely benign116420746464207464Human1name
405009989CV3049270single nucleotide variantNM_031471.6(FERMT3):c.258G>A (p.Leu86=)Leukocyte adhesion deficiency 3 [RCV003606765]likely benign116421070864210708Human1name
405009726CV3050675single nucleotide variantNM_031471.6(FERMT3):c.111T>C (p.Thr37=)Leukocyte adhesion deficiency 3 [RCV003606680]likely benign116420747564207475Human1name
405136268CV3164338single nucleotide variantNM_031471.6(FERMT3):c.228C>T (p.Thr76=)Leukocyte adhesion deficiency 3 [RCV003855133]likely benign116421067864210678Human1name
597864623CV3814250single nucleotide variantNM_031471.6(FERMT3):c.258G>C (p.Leu86=)Leukocyte adhesion deficiency 3 [RCV005147319]likely benign116421070864210708Human1name
15185180CV738093single nucleotide variantNM_031471.6(FERMT3):c.249C>T (p.Tyr83=)FERMT3-related disorder [RCV003902842]|Leukocyte adhesion deficiency 3 [RCV000908457]benign|likely benign116421069964210699Human1name , trait , alternate_id
15161093CV752755single nucleotide variantNM_031471.6(FERMT3):c.138C>T (p.Leu46=)not provided [RCV000925616]likely benign116420750264207502Humanname
26893629CV838679single nucleotide variantNM_031471.6(FERMT3):c.25G>A (p.Gly9Arg)Leukocyte adhesion deficiency 3 [RCV001047380]uncertain significance116420738964207389Human1name
126914819CV1047348single nucleotide variantNM_031471.6(FERMT3):c.56G>T (p.Arg19Leu)Leukocyte adhesion deficiency 3 [RCV001359675]uncertain significance116420742064207420Human1name
127233126CV1078434single nucleotide variantNM_031471.6(FERMT3):c.699G>T (p.Ser233=)Leukocyte adhesion deficiency 3 [RCV001413757]likely benign116421166064211660Human1name
127255975CV1078436single nucleotide variantNM_031471.6(FERMT3):c.930G>T (p.Val310=)Leukocyte adhesion deficiency 3 [RCV001401163]likely benign116421955964219559Human1name
127246755CV1100158single nucleotide variantNM_031471.6(FERMT3):c.421C>T (p.Leu141=)Leukocyte adhesion deficiency 3 [RCV001424565]likely benign116421107864211078Human1name
127281933CV1100159single nucleotide variantNM_031471.6(FERMT3):c.432T>G (p.Ala144=)Leukocyte adhesion deficiency 3 [RCV001447499]likely benign116421108964211089Human1name
127247771CV1100162single nucleotide variantNM_031471.6(FERMT3):c.735C>T (p.Asp245=)Leukocyte adhesion deficiency 3 [RCV001424794]|not provided [RCV004706131]likely benign116421169664211696Human1name
127248190CV1100164single nucleotide variantNM_031471.6(FERMT3):c.795C>T (p.Pro265=)Leukocyte adhesion deficiency 3 [RCV001424882]likely benign116421925964219259Human1name
127296474CV1121662single nucleotide variantNM_031471.6(FERMT3):c.483C>T (p.Leu161=)Leukocyte adhesion deficiency 3 [RCV001459995]likely benign116421114064211140Human1name
127317269CV1121664single nucleotide variantNM_031471.6(FERMT3):c.771C>T (p.Phe257=)Leukocyte adhesion deficiency 3 [RCV001465814]likely benign116421173264211732Human1name
127333844CV1121666single nucleotide variantNM_031471.6(FERMT3):c.912G>T (p.Leu304=)Leukocyte adhesion deficiency 3 [RCV001473163]likely benign116421954164219541Human1name
127328223CV1142497single nucleotide variantNM_031471.6(FERMT3):c.324C>T (p.Arg108=)Leukocyte adhesion deficiency 3 [RCV001486684]|not specified [RCV005419150]likely benign116421077464210774Human1name
127314837CV1142500single nucleotide variantNM_031471.6(FERMT3):c.885C>T (p.Ala295=)Leukocyte adhesion deficiency 3 [RCV001482354]likely benign116421934964219349Human1name
127319534CV1156769single nucleotide variantNM_031471.6(FERMT3):c.729C>T (p.Ala243=)Leukocyte adhesion deficiency 3 [RCV001522182]|not provided [RCV001658226]benign116421169064211690Human1name
127317933CV1156775microsatelliteNM_031471.6(FERMT3):c.1813-15_1813-14delLeukocyte adhesion deficiency 3 [RCV001521408]benign116422329664223297Humanname
151875172CV1380688single nucleotide variantNM_031471.6(FERMT3):c.37G>A (p.Asp13Asn)Inborn genetic diseases [RCV002579597]|Leukocyte adhesion deficiency 3 [RCV001998846]uncertain significance116420740164207401Human2name
151776802CV1436549single nucleotide variantNM_031471.6(FERMT3):c.28G>A (p.Asp10Asn)Leukocyte adhesion deficiency 3 [RCV001971705]uncertain significance116420739264207392Human1name
151805303CV1440520single nucleotide variantNM_031471.6(FERMT3):c.74A>G (p.Glu25Gly)Leukocyte adhesion deficiency 3 [RCV001932683]uncertain significance116420743864207438Human1name
151876484CV1467001single nucleotide variantNM_031471.6(FERMT3):c.52C>G (p.Leu18Val)Inborn genetic diseases [RCV003355600]|Leukocyte adhesion deficiency 3 [RCV001885921]uncertain significance116420741664207416Human2name
151742284CV1478147single nucleotide variantNM_031471.6(FERMT3):c.939G>A (p.Pro313=)Leukocyte adhesion deficiency 3 [RCV002005927]likely benign116421956864219568Human1name
152115453CV1526155single nucleotide variantNM_031471.6(FERMT3):c.700C>A (p.Arg234=)Leukocyte adhesion deficiency 3 [RCV002174870]likely benign116421166164211661Human1name
152116093CV1553350single nucleotide variantNM_031471.6(FERMT3):c.889C>T (p.Leu297=)Leukocyte adhesion deficiency 3 [RCV002080912]likely benign116421935364219353Human1name
152152052CV1559788single nucleotide variantNM_031471.6(FERMT3):c.429G>C (p.Arg143=)Leukocyte adhesion deficiency 3 [RCV002220969]likely benign116421108664211086Human1name
152076911CV1564590single nucleotide variantNM_031471.6(FERMT3):c.657G>A (p.Leu219=)Leukocyte adhesion deficiency 3 [RCV002192531]likely benign116421141764211417Human1name
152153119CV1579241single nucleotide variantNM_031471.6(FERMT3):c.891G>A (p.Leu297=)Leukocyte adhesion deficiency 3 [RCV002158485]likely benign116421935564219355Human1name
152128001CV1583697single nucleotide variantNM_031471.6(FERMT3):c.702G>A (p.Arg234=)Leukocyte adhesion deficiency 3 [RCV002198942]likely benign116421166364211663Human1name
152043983CV1588473single nucleotide variantNM_031471.6(FERMT3):c.435T>C (p.Pro145=)Leukocyte adhesion deficiency 3 [RCV002188618]likely benign116421109264211092Human1name
152061685CV1611224single nucleotide variantNM_031471.6(FERMT3):c.552C>T (p.His184=)Leukocyte adhesion deficiency 3 [RCV002146850]likely benign116421131264211312Human1name
152056705CV1647283single nucleotide variantNM_031471.6(FERMT3):c.642A>G (p.Pro214=)Leukocyte adhesion deficiency 3 [RCV002208183]likely benign116421140264211402Human1name
152026227CV1666277single nucleotide variantNM_031471.6(FERMT3):c.756G>A (p.Lys252=)Leukocyte adhesion deficiency 3 [RCV002084728]likely benign116421171764211717Human1name
8556965CV17748single nucleotide variantNM_031471.6(FERMT3):c.48G>A (p.Trp16Ter)Leukocyte adhesion deficiency 3 [RCV000002828]|Leukocyte adhesion deficiency [RCV004798713]pathogenic116420741264207412Human2name
156171219CV1874243single nucleotide variantNM_031471.6(FERMT3):c.420C>T (p.Ser140=)Leukocyte adhesion deficiency 3 [RCV003083239]likely benign116421107764211077Human1name
10048750CV194520single nucleotide variantNM_031471.6(FERMT3):c.405C>T (p.His135=)Leukocyte adhesion deficiency 3 [RCV000540280]|not provided [RCV003390901]|not specified [RCV000178372]benign116421106264211062Human1name
10052858CV195433single nucleotide variantNM_031471.6(FERMT3):c.708C>T (p.Leu236=)Leukocyte adhesion deficiency 3 [RCV002515276]|not provided [RCV000179545]likely benign|uncertain significance116421166964211669Human1name
156413722CV1979110single nucleotide variantNM_031471.6(FERMT3):c.534C>T (p.Phe178=)Leukocyte adhesion deficiency 3 [RCV002608926]likely benign116421129464211294Human1name
156199122CV2014654single nucleotide variantNM_031471.6(FERMT3):c.609G>A (p.Pro203=)Leukocyte adhesion deficiency 3 [RCV002700216]likely benign116421136964211369Human1name
156151220CV2070302single nucleotide variantNM_031471.6(FERMT3):c.843G>A (p.Leu281=)Leukocyte adhesion deficiency 3 [RCV002850875]likely benign116421930764219307Human1name
156380421CV2117944single nucleotide variantNM_031471.6(FERMT3):c.930G>A (p.Val310=)Leukocyte adhesion deficiency 3 [RCV002943097]likely benign116421955964219559Human1name
156170485CV2169884single nucleotide variantNM_031471.6(FERMT3):c.46T>C (p.Trp16Arg)Leukocyte adhesion deficiency 3 [RCV003023498]uncertain significance116420741064207410Human1name
156256112CV2185280single nucleotide variantNM_031471.6(FERMT3):c.834C>T (p.Asp278=)Leukocyte adhesion deficiency 3 [RCV003043959]likely benign116421929864219298Human1name
156126932CV2185706single nucleotide variantNM_031471.6(FERMT3):c.351C>G (p.Ser117=)Leukocyte adhesion deficiency 3 [RCV003055687]likely benign116421080164210801Human1name
11637703CV273897single nucleotide variantNM_031471.6(FERMT3):c.615C>T (p.Pro205=)Leukocyte adhesion deficiency 3 [RCV001086489]|not provided [RCV000288795]likely benign|conflicting interpretations of pathogenicity|uncertain significance116421137564211375Human1name
405110177CV2869249single nucleotide variantNM_031471.6(FERMT3):c.540G>A (p.Gly180=)Leukocyte adhesion deficiency 3 [RCV003499154]likely benign116421130064211300Human1name
405002092CV2943099single nucleotide variantNM_031471.6(FERMT3):c.987C>T (p.Asn329=)Leukocyte adhesion deficiency 3 [RCV003605889]likely benign116421961664219616Human1name
405010965CV3061379single nucleotide variantNM_031471.6(FERMT3):c.564C>T (p.Ser188=)Leukocyte adhesion deficiency 3 [RCV003606838]likely benign116421132464211324Human1name
405010542CV3067360single nucleotide variantNM_031471.6(FERMT3):c.357C>T (p.Pro119=)Leukocyte adhesion deficiency 3 [RCV003606794]likely benign116421080764210807Human1name
405012576CV3074969single nucleotide variantNM_031471.6(FERMT3):c.861C>T (p.Thr287=)Leukocyte adhesion deficiency 3 [RCV003607000]likely benign116421932564219325Human1name
405225365CV3142348deletionNM_031471.6(FERMT3):c.1311+13_1311+29delLeukocyte adhesion deficiency 3 [RCV003847887]uncertain significance116422033464220350Human1name
596948225CV3549306single nucleotide variantNM_031471.6(FERMT3):c.663C>T (p.Asp221=)not provided [RCV004812126]likely benign116421142364211423Humanname
597832259CV3751319single nucleotide variantNM_031471.6(FERMT3):c.510T>C (p.Ala170=)Leukocyte adhesion deficiency 3 [RCV005084865]likely benign116421116764211167Human1name
597942227CV3779859single nucleotide variantNM_031471.6(FERMT3):c.468G>A (p.Glu156=)Leukocyte adhesion deficiency 3 [RCV005118868]likely benign116421112564211125Human1name
597943326CV3812287single nucleotide variantNM_031471.6(FERMT3):c.450G>A (p.Lys150=)Leukocyte adhesion deficiency 3 [RCV005159497]likely benign116421110764211107Human1name
597866655CV3834493single nucleotide variantNM_031471.6(FERMT3):c.399C>T (p.Ile133=)Leukocyte adhesion deficiency 3 [RCV005175860]likely benign116421105664211056Human1name
597869371CV3835161single nucleotide variantNM_031471.6(FERMT3):c.981G>C (p.Leu327=)Leukocyte adhesion deficiency 3 [RCV005176337]likely benign116421961064219610Human1name
597933872CV3844767single nucleotide variantNM_031471.6(FERMT3):c.699G>A (p.Ser233=)Leukocyte adhesion deficiency 3 [RCV005186273]likely benign116421166064211660Human1name
597898371CV3854555deletionNM_031471.6(FERMT3):c.1205-24_1205-16delLeukocyte adhesion deficiency 3 [RCV005201662]likely benign116422019664220204Human1name
597889171CV3856028single nucleotide variantNM_031471.6(FERMT3):c.408C>T (p.Pro136=)Leukocyte adhesion deficiency 3 [RCV005200273]likely benign116421106564211065Human1name
12892808CV404803single nucleotide variantNM_031471.6(FERMT3):c.86C>T (p.Ala29Val)Leukocyte adhesion deficiency 3 [RCV000477963]uncertain significance116420745064207450Human1name
13619462CV526848single nucleotide variantNM_031471.6(FERMT3):c.930G>C (p.Val310=)Leukocyte adhesion deficiency 3 [RCV000646735]|not provided [RCV004718763]benign|likely benign116421955964219559Human1name
13802284CV565944single nucleotide variantNM_031471.6(FERMT3):c.56G>A (p.Arg19Gln)Inborn genetic diseases [RCV002536387]|Leukocyte adhesion deficiency 3 [RCV000704580]uncertain significance116420742064207420Human2name
14398981CV614362single nucleotide variantNM_031471.6(FERMT3):c.558G>A (p.Ser186=)Leukocyte adhesion deficiency 3 [RCV000767977]uncertain significance116421131864211318Human1name
14720914CV640236single nucleotide variantNM_031471.6(FERMT3):c.41C>G (p.Ser14Trp)Leukocyte adhesion deficiency 3 [RCV000796873]uncertain significance116420740564207405Human1name
15148829CV712988single nucleotide variantNM_031471.6(FERMT3):c.303C>T (p.Ile101=)FERMT3-related disorder [RCV003905932]|Leukocyte adhesion deficiency 3 [RCV000967629]|not provided [RCV003392710]likely benign116421075364210753Human1name , trait , alternate_id
15177378CV724554single nucleotide variantNM_031471.6(FERMT3):c.315C>G (p.Pro105=)Leukocyte adhesion deficiency 3 [RCV000884807]likely benign116421076564210765Human1name
15187798CV724556single nucleotide variantNM_031471.6(FERMT3):c.921C>T (p.Ser307=)Leukocyte adhesion deficiency 3 [RCV000887352]|not provided [RCV003392676]benign|likely benign116421955064219550Human1name
15152453CV752756single nucleotide variantNM_031471.6(FERMT3):c.963C>T (p.Asp321=)Leukocyte adhesion deficiency 3 [RCV002065997]likely benign116421959264219592Human1name
15196253CV768541single nucleotide variantNM_031471.6(FERMT3):c.369T>C (p.Ala123=)Leukocyte adhesion deficiency 3 [RCV001417542]likely benign116421081964210819Human1name
15145868CV768542single nucleotide variantNM_031471.6(FERMT3):c.531G>C (p.Leu177=)Leukocyte adhesion deficiency 3 [RCV001444936]likely benign116421129164211291Human1name
15147361CV768543single nucleotide variantNM_031471.6(FERMT3):c.660A>G (p.Ser220=)Leukocyte adhesion deficiency 3 [RCV001427056]likely benign116421142064211420Human1name
38489781CV926311single nucleotide variantNM_031471.6(FERMT3):c.34A>G (p.Ile12Val)Leukocyte adhesion deficiency 3 [RCV001221854]uncertain significance116420739864207398Human1name
38465189CV947552single nucleotide variantNM_031471.6(FERMT3):c.516C>T (p.Gly172=)Leukocyte adhesion deficiency 3 [RCV001230102]likely benign|uncertain significance116421127664211276Human1name
126755398CV1009811single nucleotide variantNM_031471.6(FERMT3):c.1239C>T (p.Gly413=)Leukocyte adhesion deficiency 3 [RCV001327731]likely benign|uncertain significance116422025464220254Human1name
126922703CV1047349single nucleotide variantNM_031471.6(FERMT3):c.163C>A (p.Arg55Ser)Leukocyte adhesion deficiency 3 [RCV001364980]uncertain significance116421061364210613Human1name
127280779CV1078431single nucleotide variantNM_031471.6(FERMT3):c.144G>T (p.Lys48Asn)Leukocyte adhesion deficiency 3 [RCV001410039]likely benign116420750864207508Human1name
127273585CV1078438single nucleotide variantNM_031471.6(FERMT3):c.1050A>G (p.Pro350=)Leukocyte adhesion deficiency 3 [RCV001406112]likely benign116421976064219760Human1name
127242134CV1078440single nucleotide variantNM_031471.6(FERMT3):c.1236C>T (p.Ser412=)Leukocyte adhesion deficiency 3 [RCV001398132]likely benign116422025164220251Human1name
127230800CV1078442single nucleotide variantNM_031471.6(FERMT3):c.1314G>A (p.Glu438=)Leukocyte adhesion deficiency 3 [RCV001412733]likely benign116422043864220438Human1name
127236188CV1078443single nucleotide variantNM_031471.6(FERMT3):c.1707C>T (p.Ile569=)Leukocyte adhesion deficiency 3 [RCV001414624]likely benign116422308464223084Human1name
127238077CV1078444single nucleotide variantNM_031471.6(FERMT3):c.1884C>T (p.His628=)Leukocyte adhesion deficiency 3 [RCV001415039]likely benign116422338464223384Human1name
127281919CV1100165single nucleotide variantNM_031471.6(FERMT3):c.1014G>A (p.Ala338=)Leukocyte adhesion deficiency 3 [RCV001447487]likely benign116421964364219643Human1name
127267541CV1100167single nucleotide variantNM_031471.6(FERMT3):c.1269C>A (p.Pro423=)Leukocyte adhesion deficiency 3 [RCV001440572]likely benign116422028464220284Human1name
127277660CV1100168single nucleotide variantNM_031471.6(FERMT3):c.1503C>T (p.Gly501=)Leukocyte adhesion deficiency 3 [RCV001444559]likely benign116422062764220627Human1name
127262915CV1100169single nucleotide variantNM_031471.6(FERMT3):c.1635C>G (p.Ser545=)FERMT3-related disorder [RCV003930915]|Leukocyte adhesion deficiency 3 [RCV001428452]likely benign116422110564221105Human1name , trait , alternate_id
127291705CV1121667single nucleotide variantNM_031471.6(FERMT3):c.1095C>T (p.Thr365=)Leukocyte adhesion deficiency 3 [RCV001458812]likely benign116421990664219906Human1name
127307564CV1121669single nucleotide variantNM_031471.6(FERMT3):c.1578T>C (p.Asn526=)Leukocyte adhesion deficiency 3 [RCV001455816]likely benign116422104864221048Human1name
127288395CV1121670single nucleotide variantNM_031471.6(FERMT3):c.1743G>T (p.Val581=)Leukocyte adhesion deficiency 3 [RCV001450464]likely benign116422312064223120Human1name
127314691CV1121671single nucleotide variantNM_031471.6(FERMT3):c.1821C>T (p.Ile607=)Leukocyte adhesion deficiency 3 [RCV001457775]likely benign116422332164223321Human1name
127306367CV1142501single nucleotide variantNM_031471.6(FERMT3):c.1047C>A (p.Ile349=)Leukocyte adhesion deficiency 3 [RCV001480035]likely benign116421975764219757Human1name
127336704CV1142502single nucleotide variantNM_031471.6(FERMT3):c.1527A>C (p.Arg509=)Leukocyte adhesion deficiency 3 [RCV001492374]likely benign116422065164220651Human1name
127334736CV1142503single nucleotide variantNM_031471.6(FERMT3):c.1584C>T (p.Ala528=)Leukocyte adhesion deficiency 3 [RCV001491066]likely benign116422105464221054Human1name
127311731CV1156773single nucleotide variantNM_031471.6(FERMT3):c.1449G>A (p.Pro483=)Leukocyte adhesion deficiency 3 [RCV001518719]|not provided [RCV001597286]benign116422057364220573Human3name
127303908CV1156776single nucleotide variantNM_031471.6(FERMT3):c.1914G>C (p.Ser638=)Leukocyte adhesion deficiency 3 [RCV001515669]benign116422341464223414Human1name
151785332CV1369342single nucleotide variantNM_031471.6(FERMT3):c.113G>C (p.Gly38Ala)Leukocyte adhesion deficiency 3 [RCV002046545]uncertain significance116420747764207477Human1name
151784860CV1374600single nucleotide variantNM_031471.6(FERMT3):c.1746C>T (p.Gly582=)Leukocyte adhesion deficiency 3 [RCV001875713]likely benign|uncertain significance116422312364223123Human1name
151731913CV1389965single nucleotide variantNM_031471.6(FERMT3):c.275T>G (p.Phe92Cys)Leukocyte adhesion deficiency 3 [RCV001910957]uncertain significance116421072564210725Human1name
151713524CV1428818deletionNM_031471.6(FERMT3):c.540del (p.Met181fs)Leukocyte adhesion deficiency 3 [RCV002002460]pathogenic116421129664211296Human1name
151883795CV1432244single nucleotide variantNM_031471.6(FERMT3):c.1866C>T (p.Ala622=)Leukocyte adhesion deficiency 3 [RCV002000130]likely benign116422336664223366Human1name
151853301CV1456951single nucleotide variantNM_031471.6(FERMT3):c.1497C>G (p.Pro499=)FERMT3-related disorder [RCV004756304]|Leukocyte adhesion deficiency 3 [RCV001883023]likely benign|uncertain significance116422062164220621Human1name , trait , alternate_id
151766019CV1485902single nucleotide variantNM_031471.6(FERMT3):c.1650C>T (p.Gly550=)Leukocyte adhesion deficiency 3 [RCV002044785]likely benign|uncertain significance116422112064221120Human1name
151720785CV1491597single nucleotide variantNM_031471.6(FERMT3):c.1104C>G (p.Gly368=)Leukocyte adhesion deficiency 3 [RCV002003633]likely benign|uncertain significance116421991564219915Human1name
152175818CV1527241single nucleotide variantNM_031471.6(FERMT3):c.1389C>T (p.Thr463=)Leukocyte adhesion deficiency 3 [RCV002163955]likely benign116422051364220513Human1name
152064787CV1539631single nucleotide variantNM_031471.6(FERMT3):c.1260C>T (p.Leu420=)Leukocyte adhesion deficiency 3 [RCV002147261]likely benign116422027564220275Human1name
152092305CV1545033single nucleotide variantNM_031471.6(FERMT3):c.1749C>T (p.Asp583=)Leukocyte adhesion deficiency 3 [RCV002171988]likely benign116422312664223126Human1name
152168469CV1548031single nucleotide variantNM_031471.6(FERMT3):c.1362C>G (p.Gly454=)Leukocyte adhesion deficiency 3 [RCV002161134]likely benign116422048664220486Human1name
152026428CV1550279single nucleotide variantNM_031471.6(FERMT3):c.1842T>C (p.Asn614=)Leukocyte adhesion deficiency 3 [RCV002185152]likely benign116422334264223342Human1name
152066031CV1565047single nucleotide variantNM_031471.6(FERMT3):c.1251C>T (p.Cys417=)Leukocyte adhesion deficiency 3 [RCV002090932]likely benign116422026664220266Human1name
152116377CV1569552single nucleotide variantNM_031471.6(FERMT3):c.1647C>T (p.Phe549=)Leukocyte adhesion deficiency 3 [RCV002117246]likely benign116422111764221117Human1name
152128212CV1573969single nucleotide variantNM_031471.6(FERMT3):c.1731C>T (p.Ile577=)Leukocyte adhesion deficiency 3 [RCV002155163]likely benign116422310864223108Human1name
152113187CV1585931single nucleotide variantNM_031471.6(FERMT3):c.1896G>A (p.Gly632=)Leukocyte adhesion deficiency 3 [RCV002153326]likely benign116422339664223396Human1name
152102785CV1605979single nucleotide variantNM_031471.6(FERMT3):c.1221C>T (p.Pro407=)Leukocyte adhesion deficiency 3 [RCV002095748]likely benign116422023664220236Human1name
152172950CV1641789single nucleotide variantNM_031471.6(FERMT3):c.1374C>T (p.Ala458=)Leukocyte adhesion deficiency 3 [RCV002184014]|not specified [RCV005239305]likely benign116422049864220498Human1name
152095391CV1653064single nucleotide variantNM_031471.6(FERMT3):c.1609C>T (p.Leu537=)Leukocyte adhesion deficiency 3 [RCV002094767]likely benign116422107964221079Human1name
152981980CV1678917deletionNM_031471.6(FERMT3):c.921del (p.Ser307fs)Leukocyte adhesion deficiency 3 [RCV002248304]pathogenic116421955064219550Human1name
156351509CV1870107single nucleotide variantNM_031471.6(FERMT3):c.1596G>A (p.Leu532=)FERMT3-related disorder [RCV003953842]|Leukocyte adhesion deficiency 3 [RCV003064887]likely benign116422106664221066Human1name , trait , alternate_id
156397854CV1880803single nucleotide variantNM_031471.6(FERMT3):c.164G>A (p.Arg55His)Inborn genetic diseases [RCV004978537]|Leukocyte adhesion deficiency 3 [RCV003068832]uncertain significance116421061464210614Human2name
156180118CV1888317single nucleotide variantNM_031471.6(FERMT3):c.1740C>T (p.Ala580=)Leukocyte adhesion deficiency 3 [RCV003083529]likely benign116422311764223117Human1name
156376607CV1896096single nucleotide variantNM_031471.6(FERMT3):c.1908C>T (p.Phe636=)Leukocyte adhesion deficiency 3 [RCV003092926]likely benign116422340864223408Human1name
156075922CV1904250single nucleotide variantNM_031471.6(FERMT3):c.124A>G (p.Ile42Val)Leukocyte adhesion deficiency 3 [RCV002591417]uncertain significance116420748864207488Human1name
10049764CV190909single nucleotide variantNM_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 significance116421999964219999Human1name , trait , alternate_id
156208575CV1913361single nucleotide variantNM_031471.6(FERMT3):c.1977C>T (p.Gly659=)Leukocyte adhesion deficiency 3 [RCV002595978]likely benign116422347764223477Human1name
10050312CV191727single nucleotide variantNM_031471.6(FERMT3):c.1893C>T (p.Ile631=)Leukocyte adhesion deficiency 3 [RCV000603085]|not provided [RCV000174954]likely benign|conflicting interpretations of pathogenicity|uncertain significance116422339364223393Human1name
10047937CV191728single nucleotide variantNM_031471.6(FERMT3):c.1917G>A (p.Thr639=)Leukocyte adhesion deficiency 3 [RCV000527694]|not provided [RCV004718089]|not specified [RCV000174955]benign116422341764223417Human1name
155944086CV1921080single nucleotide variantNM_031471.6(FERMT3):c.1392C>T (p.Ser464=)Leukocyte adhesion deficiency 3 [RCV002615826]likely benign116422051664220516Human1name
10048203CV192548single nucleotide variantNM_031471.6(FERMT3):c.159C>G (p.Ile53Met)FERMT3-related disorder [RCV003907578]|Leukocyte adhesion deficiency 3 [RCV000646732]|not provided [RCV004703445]|not specified [RCV000175956]likely benign116420752364207523Human5name , trait , alternate_id
10048204CV192549single nucleotide variantNM_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 significance116420749464207494Human5name
10048204CV192549single nucleotide variantNM_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 significance116420749464207495Human5name
156410258CV1932246single nucleotide variantNM_031471.6(FERMT3):c.1857C>T (p.Cys619=)Leukocyte adhesion deficiency 3 [RCV002607812]likely benign116422335764223357Human1name
156447354CV1944997single nucleotide variantNM_031471.6(FERMT3):c.1725C>A (p.Ile575=)Leukocyte adhesion deficiency 3 [RCV003118881]likely benign116422310264223102Human1name
156305904CV1999835single nucleotide variantNM_031471.6(FERMT3):c.1170C>G (p.Ala390=)Leukocyte adhesion deficiency 3 [RCV002671381]likely benign116421998164219981Human1name
156354284CV2012057single nucleotide variantNM_031471.6(FERMT3):c.1128C>T (p.Phe376=)Leukocyte adhesion deficiency 3 [RCV002720411]likely benign116421993964219939Human1name
155940263CV2025383single nucleotide variantNM_031471.6(FERMT3):c.213G>C (p.Gln71His)Leukocyte adhesion deficiency 3 [RCV002730065]uncertain significance116421066364210663Human1name
156313081CV2031707single nucleotide variantNM_031471.6(FERMT3):c.1011G>A (p.Ser337=)Leukocyte adhesion deficiency 3 [RCV002716649]likely benign116421964064219640Human1name
156117775CV2042952single nucleotide variantNM_031471.6(FERMT3):c.1512C>T (p.Ala504=)Leukocyte adhesion deficiency 3 [RCV002800103]likely benign116422063664220636Human1name
156185477CV2086526single nucleotide variantNM_031471.6(FERMT3):c.1701G>A (p.Leu567=)Leukocyte adhesion deficiency 3 [RCV002851969]likely benign116422307864223078Human1name
156252177CV2117020single nucleotide variantNM_031471.6(FERMT3):c.1164C>T (p.Asp388=)Leukocyte adhesion deficiency 3 [RCV002933590]likely benign116421997564219975Human1name
156148579CV2175196single nucleotide variantNM_031471.6(FERMT3):c.155A>G (p.Gln52Arg)Leukocyte adhesion deficiency 3 [RCV003040292]uncertain significance116420751964207519Human1name
156299004CV2180654single nucleotide variantNM_031471.6(FERMT3):c.107T>C (p.Val36Ala)Leukocyte adhesion deficiency 3 [RCV003028000]uncertain significance116420747164207471Human1name
156268252CV2329743single nucleotide variantNM_031471.6(FERMT3):c.265G>A (p.Ala89Thr)Inborn genetic diseases [RCV002960174]uncertain significance116421071564210715Human1name
401769924CV2710737single nucleotide variantNM_031471.6(FERMT3):c.287A>G (p.Gln96Arg)Inborn genetic diseases [RCV003260819]uncertain significance116421073764210737Human1name
405112328CV2887824single nucleotide variantNM_031471.6(FERMT3):c.1443G>C (p.Gly481=)Leukocyte adhesion deficiency 3 [RCV003499517]likely benign116422056764220567Human1name
405112723CV2892039single nucleotide variantNM_031471.6(FERMT3):c.1911G>A (p.Leu637=)Leukocyte adhesion deficiency 3 [RCV003499584]likely benign116422341164223411Human1name
405002161CV2940011single nucleotide variantNM_031471.6(FERMT3):c.1620C>T (p.Ile540=)Leukocyte adhesion deficiency 3 [RCV003605897]likely benign116422109064221090Human1name
405003992CV2968444single nucleotide variantNM_031471.6(FERMT3):c.1926G>C (p.Arg642=)Leukocyte adhesion deficiency 3 [RCV003606133]likely benign116422342664223426Human1name
405004951CV2970124single nucleotide variantNM_031471.6(FERMT3):c.1686G>A (p.Arg562=)Leukocyte adhesion deficiency 3 [RCV003606229]likely benign116422306364223063Human1name
405007137CV2980449single nucleotide variantNM_031471.6(FERMT3):c.1839C>T (p.Ile613=)Leukocyte adhesion deficiency 3 [RCV003606436]likely benign116422333964223339Human1name
404998512CV3014239single nucleotide variantNM_031471.6(FERMT3):c.1593G>T (p.Ser531=)Leukocyte adhesion deficiency 3 [RCV003605361]likely benign116422106364221063Human1name
405010923CV3064484single nucleotide variantNM_031471.6(FERMT3):c.1593G>A (p.Ser531=)Leukocyte adhesion deficiency 3 [RCV003606833]|not provided [RCV003992788]likely benign116422106364221063Human1name
405204268CV3116922single nucleotide variantNM_031471.6(FERMT3):c.1230C>T (p.Asn410=)Leukocyte adhesion deficiency 3 [RCV003822406]likely benign116422024564220245Human1name
405134608CV3163925single nucleotide variantNM_031471.6(FERMT3):c.1914G>A (p.Ser638=)Leukocyte adhesion deficiency 3 [RCV003854913]likely benign116422341464223414Human1name
404980156CV3183317single nucleotide variantNM_031471.6(FERMT3):c.1918C>A (p.Arg640=)Leukocyte adhesion deficiency 3 [RCV003880340]likely benign116422341864223418Human1name
405289758CV3213280single nucleotide variantNM_031471.6(FERMT3):c.1971C>T (p.Thr657=)FERMT3-related disorder [RCV003961944]likely benign116422347164223471Humanname , trait , alternate_id
597840383CV3737168single nucleotide variantNM_031471.6(FERMT3):c.1909C>T (p.Leu637=)Leukocyte adhesion deficiency 3 [RCV005064648]likely benign116422340964223409Human1name
597882863CV3741219single nucleotide variantNM_031471.6(FERMT3):c.160A>G (p.Asn54Asp)Leukocyte adhesion deficiency 3 [RCV005070126]uncertain significance116420752464207524Human1name
597957044CV3754766single nucleotide variantNM_031471.6(FERMT3):c.1422C>T (p.Ser474=)Leukocyte adhesion deficiency 3 [RCV005080616]likely benign116422054664220546Human1name
597835325CV3760817single nucleotide variantNM_031471.6(FERMT3):c.1735T>C (p.Leu579=)Leukocyte adhesion deficiency 3 [RCV005085368]likely benign116422311264223112Human1name
597894822CV3763468single nucleotide variantNM_031471.6(FERMT3):c.1377C>T (p.Asp459=)Leukocyte adhesion deficiency 3 [RCV005111048]likely benign116422050164220501Human1name
597892567CV3785344single nucleotide variantNM_031471.6(FERMT3):c.1152C>T (p.Tyr384=)Leukocyte adhesion deficiency 3 [RCV005125930]likely benign116421996364219963Human1name
597975893CV3795992single nucleotide variantNM_031471.6(FERMT3):c.1905T>A (p.Ile635=)Leukocyte adhesion deficiency 3 [RCV005144823]likely benign116422340564223405Human1name
597954015CV3812630single nucleotide variantNM_031471.6(FERMT3):c.1179C>T (p.Asp393=)Leukocyte adhesion deficiency 3 [RCV005161904]likely benign116421999064219990Human1name
597974076CV3821073single nucleotide variantNM_031471.6(FERMT3):c.1113A>G (p.Gln371=)Leukocyte adhesion deficiency 3 [RCV005168394]likely benign116421992464219924Human1name
597895842CV3834519single nucleotide variantNM_031471.6(FERMT3):c.110C>T (p.Thr37Ile)Leukocyte adhesion deficiency 3 [RCV005180430]uncertain significance116420747464207474Human1name
597893021CV3856815single nucleotide variantNM_031471.6(FERMT3):c.1014G>T (p.Ala338=)Leukocyte adhesion deficiency 3 [RCV005200881]likely benign116421964364219643Human1name
12895961CV390058single nucleotide variantNM_031471.6(FERMT3):c.1506C>T (p.Leu502=)Leukocyte adhesion deficiency 3 [RCV001518720]|not provided [RCV001598669]|not specified [RCV000454692]benign116422063064220630Human4name
12895961CV390058single nucleotide variantNM_031471.6(FERMT3):c.1506C>T (p.Leu502=)Leukocyte adhesion deficiency 3 [RCV001518720]|not provided [RCV001598669]|not specified [RCV000454692]benign116422063064220631Human4name
616939573CV4014068single nucleotide variantNM_031471.6(FERMT3):c.1092G>A (p.Leu364=)not provided [RCV005413560]likely benign116421990364219903Humanname
13498376CV461445single nucleotide variantNM_031471.6(FERMT3):c.1320G>A (p.Gln440=)Leukocyte adhesion deficiency 3 [RCV000539188]|not provided [RCV004718727]benign|likely benign116422044464220444Human1name
13523968CV488701single nucleotide variantNM_031471.6(FERMT3):c.1404C>T (p.Ala468=)Leukocyte adhesion deficiency 3 [RCV000646733]|not provided [RCV004704103]|not specified [RCV000593665]benign|likely benign116422052864220528Human1name
13534248CV512851single nucleotide variantNM_031471.6(FERMT3):c.1317G>A (p.Gln439=)Leukocyte adhesion deficiency 3 [RCV000625036]|not provided [RCV004705721]benign|likely benign116422044164220441Human1name
13619456CV526357single nucleotide variantNM_031471.6(FERMT3):c.268C>T (p.Arg90Cys)Inborn genetic diseases [RCV004025716]|Leukocyte adhesion deficiency 3 [RCV000646730]uncertain significance116421071864210718Human2name
13619469CV526849single nucleotide variantNM_031471.6(FERMT3):c.1692C>T (p.Asp564=)Leukocyte adhesion deficiency 3 [RCV000646740]|not provided [RCV004718764]benign|likely benign116422306964223069Human1name
14713594CV640237single nucleotide variantNM_031471.6(FERMT3):c.269G>A (p.Arg90His)Leukocyte adhesion deficiency 3 [RCV000810614]uncertain significance116421071964210719Human1name
14706704CV640241duplicationNM_031471.6(FERMT3):c.814dup (p.Tyr272fs)Leukocyte adhesion deficiency 3 [RCV000808521]pathogenic116421927764219278Human1name
15176176CV701856single nucleotide variantNM_031471.6(FERMT3):c.206A>C (p.Lys69Thr)Leukocyte adhesion deficiency 3 [RCV000950765]benign116421065664210656Human1name
15165097CV724559single nucleotide variantNM_031471.6(FERMT3):c.1722G>C (p.Leu574=)Leukocyte adhesion deficiency 3 [RCV000882340]benign116422309964223099Human1name
15148662CV738094single nucleotide variantNM_031471.6(FERMT3):c.1464C>T (p.His488=)Leukocyte adhesion deficiency 3 [RCV001476439]likely benign116422058864220588Human1name
15165150CV752757single nucleotide variantNM_031471.6(FERMT3):c.1434G>A (p.Thr478=)Leukocyte adhesion deficiency 3 [RCV000926556]likely benign116422055864220558Human1name
15128521CV752758single nucleotide variantNM_031471.6(FERMT3):c.1983G>A (p.Glu661=)Leukocyte adhesion deficiency 3 [RCV001412198]likely benign116422348364223483Human1name
15184872CV768544single nucleotide variantNM_031471.6(FERMT3):c.1374C>G (p.Ala458=)Leukocyte adhesion deficiency 3 [RCV001429646]likely benign116422049864220498Human1name
15140378CV768545single nucleotide variantNM_031471.6(FERMT3):c.1408C>T (p.Leu470=)Leukocyte adhesion deficiency 3 [RCV000943708]likely benign116422053264220532Human1name
15109773CV784051single nucleotide variantNM_031471.6(FERMT3):c.1548C>A (p.Leu516=)Leukocyte adhesion deficiency 3 [RCV000977305]likely benign116422101864221018Human1name
26891908CV838680single nucleotide variantNM_031471.6(FERMT3):c.140T>A (p.Leu47Gln)Leukocyte adhesion deficiency 3 [RCV001046680]uncertain significance116420750464207504Human1name
126762450CV994623single nucleotide variantNM_031471.6(FERMT3):c.262G>A (p.Asp88Asn)Leukocyte adhesion deficiency 3 [RCV001309887]uncertain significance116421071264210712Human1name
126745529CV1009807single nucleotide variantNM_031471.6(FERMT3):c.507G>C (p.Leu169Phe)Leukocyte adhesion deficiency 3 [RCV001315085]uncertain significance116421116464211164Human1name
126771102CV1009808single nucleotide variantNM_031471.6(FERMT3):c.560A>G (p.Asp187Gly)Leukocyte adhesion deficiency 3 [RCV001322965]uncertain significance116421132064211320Human1name
126769598CV1009809single nucleotide variantNM_031471.6(FERMT3):c.644G>A (p.Arg215Gln)Leukocyte adhesion deficiency 3 [RCV001322061]uncertain significance116421140464211404Human1name
126754746CV1009810single nucleotide variantNM_031471.6(FERMT3):c.706C>T (p.Leu236Phe)Leukocyte adhesion deficiency 3 [RCV001316778]uncertain significance116421166764211667Human1name
126769392CV1030369single nucleotide variantNM_031471.6(FERMT3):c.475G>A (p.Glu159Lys)Leukocyte adhesion deficiency 3 [RCV001343899]uncertain significance116421113264211132Human1name
126922096CV1047350single nucleotide variantNM_031471.6(FERMT3):c.427C>T (p.Arg143Trp)Leukocyte adhesion deficiency 3 [RCV001364266]uncertain significance116421108464211084Human1name
151851472CV1362153single nucleotide variantNM_031471.6(FERMT3):c.500T>C (p.Val167Ala)Leukocyte adhesion deficiency 3 [RCV001978998]uncertain significance116421115764211157Human1name
151843333CV1363276single nucleotide variantNM_031471.6(FERMT3):c.724A>G (p.Lys242Glu)Leukocyte adhesion deficiency 3 [RCV002032084]uncertain significance116421168564211685Human1name
151826446CV1363531single nucleotide variantNM_031471.6(FERMT3):c.479A>T (p.Glu160Val)Leukocyte adhesion deficiency 3 [RCV002050296]uncertain significance116421113664211136Human1name
151766972CV1367172single nucleotide variantNM_031471.6(FERMT3):c.521C>T (p.Ala174Val)Leukocyte adhesion deficiency 3 [RCV002024987]uncertain significance116421128164211281Human1name
151874445CV1369482single nucleotide variantNM_031471.6(FERMT3):c.598C>T (p.Arg200Trp)Leukocyte adhesion deficiency 3 [RCV002036081]uncertain significance116421135864211358Human1name
151782573CV1369845single nucleotide variantNM_031471.6(FERMT3):c.938C>T (p.Pro313Leu)Leukocyte adhesion deficiency 3 [RCV001930578]uncertain significance116421956764219567Human1name
151809474CV1374878single nucleotide variantNM_031471.6(FERMT3):c.644G>T (p.Arg215Leu)Leukocyte adhesion deficiency 3 [RCV001933050]uncertain significance116421140464211404Human1name
151878816CV1383561single nucleotide variantNM_031471.6(FERMT3):c.772G>A (p.Asp258Asn)Leukocyte adhesion deficiency 3 [RCV001907403]uncertain significance116421173364211733Human1name
151735347CV1391247single nucleotide variantNM_031471.6(FERMT3):c.886G>A (p.Ala296Thr)Leukocyte adhesion deficiency 3 [RCV002005232]uncertain significance116421935064219350Human1name
151797138CV1392749single nucleotide variantNM_031471.6(FERMT3):c.481C>G (p.Leu161Val)Leukocyte adhesion deficiency 3 [RCV001898721]uncertain significance116421113864211138Human1name
151768697CV1410507single nucleotide variantNM_031471.6(FERMT3):c.389T>G (p.Leu130Arg)Leukocyte adhesion deficiency 3 [RCV001988034]uncertain significance116421083964210839Human1name
151788417CV1413013single nucleotide variantNM_031471.6(FERMT3):c.613C>A (p.Pro205Thr)Leukocyte adhesion deficiency 3 [RCV001989830]uncertain significance116421137364211373Human1name
151864427CV1416509single nucleotide variantNM_031471.6(FERMT3):c.599G>A (p.Arg200Gln)Inborn genetic diseases [RCV002563553]|Leukocyte adhesion deficiency 3 [RCV001997556]uncertain significance116421135964211359Human2name
151863810CV1431456single nucleotide variantNM_031471.6(FERMT3):c.827G>A (p.Arg276Gln)Leukocyte adhesion deficiency 3 [RCV001924355]uncertain significance116421929164219291Human1name
151816767CV1433214single nucleotide variantNM_031471.6(FERMT3):c.698C>T (p.Ser233Leu)Leukocyte adhesion deficiency 3 [RCV001954359]uncertain significance116421165964211659Human1name
151883251CV1443421single nucleotide variantNM_031471.6(FERMT3):c.902T>C (p.Ile301Thr)Leukocyte adhesion deficiency 3 [RCV002037302]uncertain significance116421953164219531Human1name
151832891CV1456094single nucleotide variantNM_031471.6(FERMT3):c.307C>T (p.Arg103Trp)Leukocyte adhesion deficiency 3 [RCV002050897]uncertain significance116421075764210757Human1name
151780448CV1472573single nucleotide variantNM_031471.6(FERMT3):c.719G>A (p.Gly240Asp)Leukocyte adhesion deficiency 3 [RCV002026208]uncertain significance116421168064211680Human1name
151796280CV1476369single nucleotide variantNM_031471.6(FERMT3):c.790G>C (p.Asp264His)Leukocyte adhesion deficiency 3 [RCV001931893]uncertain significance116421925464219254Human1name
151719881CV1498182single nucleotide variantNM_031471.6(FERMT3):c.765C>A (p.Ser255Arg)Leukocyte adhesion deficiency 3 [RCV001965807]uncertain significance116421172664211726Human1name
151889007CV1504598single nucleotide variantNM_031471.6(FERMT3):c.445G>A (p.Glu149Lys)Leukocyte adhesion deficiency 3 [RCV001963336]uncertain significance116421110264211102Human1name
151735683CV1508882single nucleotide variantNM_031471.6(FERMT3):c.409G>A (p.Glu137Lys)Leukocyte adhesion deficiency 3 [RCV002021783]|not provided [RCV004694151]uncertain significance116421106664211066Human1name
155266127CV1696231single nucleotide variantNM_031471.6(FERMT3):c.593T>C (p.Leu198Pro)Leukocyte adhesion deficiency 3 [RCV002281006]uncertain significance116421135364211353Human1name
8556967CV17750single nucleotide variantNM_031471.6(FERMT3):c.687G>A (p.Trp229Ter)Leukocyte adhesion deficiency 3 [RCV000002830]pathogenic116421164864211648Human1name
156102087CV1907180single nucleotide variantNM_031471.6(FERMT3):c.964G>A (p.Asp322Asn)Leukocyte adhesion deficiency 3 [RCV003080640]uncertain significance116421959364219593Human1name
156415268CV1962033single nucleotide variantNM_031471.6(FERMT3):c.730G>A (p.Gly244Arg)Leukocyte adhesion deficiency 3 [RCV002589070]uncertain significance116421169164211691Human1name
156319107CV1971579single nucleotide variantNM_031471.6(FERMT3):c.748C>T (p.Arg250Cys)Leukocyte adhesion deficiency 3 [RCV002630230]uncertain significance116421170964211709Human1name
156323753CV1976399single nucleotide variantNM_031471.6(FERMT3):c.700C>T (p.Arg234Trp)Inborn genetic diseases [RCV004617047]|Leukocyte adhesion deficiency 3 [RCV002600399]uncertain significance116421166164211661Human2name
156386133CV1986394single nucleotide variantNM_031471.6(FERMT3):c.984C>A (p.Ser328Arg)Leukocyte adhesion deficiency 3 [RCV002634624]uncertain significance116421961364219613Human1name
156372819CV2003602single nucleotide variantNM_031471.6(FERMT3):c.313C>T (p.Pro105Ser)Leukocyte adhesion deficiency 3 [RCV002653045]uncertain significance116421076364210763Human1name
156399186CV2013151single nucleotide variantNM_031471.6(FERMT3):c.749G>A (p.Arg250His)Leukocyte adhesion deficiency 3 [RCV002725851]uncertain significance116421171064211710Human1name
156320095CV2025278single nucleotide variantNM_031471.6(FERMT3):c.431C>G (p.Ala144Gly)Leukocyte adhesion deficiency 3 [RCV002717033]uncertain significance116421108864211088Human1name
156225963CV2048345single nucleotide variantNM_031471.6(FERMT3):c.749G>T (p.Arg250Leu)Leukocyte adhesion deficiency 3 [RCV002790814]uncertain significance116421171064211710Human1name
156230626CV2048662single nucleotide variantNM_031471.6(FERMT3):c.737C>T (p.Ala246Val)Leukocyte adhesion deficiency 3 [RCV002790984]uncertain significance116421169864211698Human1name
156379765CV2060685single nucleotide variantNM_031471.6(FERMT3):c.444G>C (p.Lys148Asn)Leukocyte adhesion deficiency 3 [RCV002814996]uncertain significance116421110164211101Human1name
156338800CV2106646single nucleotide variantNM_031471.6(FERMT3):c.323G>A (p.Arg108His)Leukocyte adhesion deficiency 3 [RCV002938782]uncertain significance116421077364210773Human1name
155937868CV2110453single nucleotide variantNM_031471.6(FERMT3):c.619C>G (p.Pro207Ala)Leukocyte adhesion deficiency 3 [RCV002904265]uncertain significance116421137964211379Human1name
156270233CV2135276single nucleotide variantNM_031471.6(FERMT3):c.643C>T (p.Arg215Trp)Leukocyte adhesion deficiency 3 [RCV002988796]uncertain significance116421140364211403Human1name
156228052CV2140780single nucleotide variantNM_031471.6(FERMT3):c.544C>T (p.Pro182Ser)Leukocyte adhesion deficiency 3 [RCV003007636]uncertain significance116421130464211304Human1name
156073280CV2299187single nucleotide variantNM_031471.6(FERMT3):c.392T>G (p.Leu131Arg)Inborn genetic diseases [RCV002887007]uncertain significance116421084264210842Human1name
156062299CV2316474single nucleotide variantNM_031471.6(FERMT3):c.485A>G (p.Tyr162Cys)Inborn genetic diseases [RCV002911862]uncertain significance116421114264211142Human1name
156068212CV2317973single nucleotide variantNM_031471.6(FERMT3):c.826C>T (p.Arg276Trp)Inborn genetic diseases [RCV002925461]uncertain significance116421929064219290Human1name
156062866CV2321032single nucleotide variantNM_031471.6(FERMT3):c.385C>T (p.Arg129Cys)Inborn genetic diseases [RCV002925158]uncertain significance116421083564210835Human1name
329401879CV2457969single nucleotide variantNM_031471.6(FERMT3):c.701G>A (p.Arg234Gln)Inborn genetic diseases [RCV003198920]uncertain significance116421166264211662Human1name
401749333CV2704605single nucleotide variantNM_031471.6(FERMT3):c.450G>C (p.Lys150Asn)Inborn genetic diseases [RCV003294863]uncertain significance116421110764211107Human1name
11639631CV271610single nucleotide variantNM_031471.6(FERMT3):c.568C>G (p.Gln190Glu)FERMT3-related disorder [RCV003949896]|Leukocyte adhesion deficiency 3 [RCV001217090]|not provided [RCV000323465]uncertain significance116421132864211328Human1name , trait , alternate_id
401763703CV2725263single nucleotide variantNM_031471.6(FERMT3):c.796G>A (p.Val266Met)Inborn genetic diseases [RCV003258299]uncertain significance116421926064219260Human1name
405106758CV2916341deletionNM_031471.6(FERMT3):c.1790del (p.Asn597fs)Leukocyte adhesion deficiency 3 [RCV003498405]uncertain significance116422316664223166Human1name
405007841CV2991897single nucleotide variantNM_031471.6(FERMT3):c.511G>A (p.Gly171Arg)Leukocyte adhesion deficiency 3 [RCV003606515]uncertain significance116421116864211168Human1name
407483993CV3439018single nucleotide variantNM_031471.6(FERMT3):c.491T>G (p.Leu164Trp)Inborn genetic diseases [RCV004618659]uncertain significance116421114864211148Human1name
407483998CV3439019single nucleotide variantNM_031471.6(FERMT3):c.838C>A (p.Leu280Met)Inborn genetic diseases [RCV004618660]uncertain significance116421930264219302Human1name
408390160CV3524955single nucleotide variantNM_031471.6(FERMT3):c.401G>A (p.Arg134Gln)not provided [RCV004769850]uncertain significance116421105864211058Humanname
597653243CV3672458single nucleotide variantNM_031471.6(FERMT3):c.512G>A (p.Gly171Glu)Inborn genetic diseases [RCV004975025]uncertain significance116421116964211169Human1name
597873659CV3747360single nucleotide variantNM_031471.6(FERMT3):c.832G>C (p.Asp278His)Leukocyte adhesion deficiency 3 [RCV005069044]uncertain significance116421929664219296Human1name
597966844CV3794338single nucleotide variantNM_031471.6(FERMT3):c.733G>C (p.Asp245His)Leukocyte adhesion deficiency 3 [RCV005140514]uncertain significance116421169464211694Human1name
598240765CV3959306single nucleotide variantNM_031471.6(FERMT3):c.523C>T (p.Pro175Ser)Inborn genetic diseases [RCV005344233]uncertain significance116421128364211283Human1name
8568512CV39644deletionNM_031471.6(FERMT3):c.1275del (p.Glu426fs)Leukocyte adhesion deficiency 3 [RCV000023665]pathogenic116422029064220290Human1name
13482864CV461255single nucleotide variantNM_031471.6(FERMT3):c.941C>T (p.Ala314Val)Leukocyte adhesion deficiency 3 [RCV000552041]uncertain significance116421957064219570Human1name
13619466CV526321single nucleotide variantNM_031471.6(FERMT3):c.607C>T (p.Pro203Ser)Inborn genetic diseases [RCV003343973]|Leukocyte adhesion deficiency 3 [RCV000646738]likely benign|uncertain significance116421136764211367Human2name
13619465CV526836single nucleotide variantNM_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 significance116421077064210770Human2name , trait , alternate_id
13619454CV526847single nucleotide variantNM_031471.6(FERMT3):c.536G>A (p.Arg179Gln)Leukocyte adhesion deficiency 3 [RCV000646729]uncertain significance116421129664211296Human1name
13802293CV564793single nucleotide variantNM_031471.6(FERMT3):c.298G>A (p.Val100Ile)Leukocyte adhesion deficiency 3 [RCV000707414]uncertain significance116421074864210748Human1name
13802240CV564795single nucleotide variantNM_031471.6(FERMT3):c.849G>T (p.Glu283Asp)Leukocyte adhesion deficiency 3 [RCV000687389]uncertain significance116421931364219313Human1name
13802260CV565945single nucleotide variantNM_031471.6(FERMT3):c.386G>A (p.Arg129His)Leukocyte adhesion deficiency 3 [RCV000698068]uncertain significance116421083664210836Human1name
13802263CV565948single nucleotide variantNM_031471.6(FERMT3):c.634C>T (p.Arg212Cys)Leukocyte adhesion deficiency 3 [RCV000699563]uncertain significance116421139464211394Human1name
13802278CV567407single nucleotide variantNM_031471.6(FERMT3):c.922G>A (p.Gly308Arg)Leukocyte adhesion deficiency 3 [RCV000702881]uncertain significance116421955164219551Human1name
13802275CV570766single nucleotide variantNM_031471.6(FERMT3):c.332G>A (p.Arg111His)Leukocyte adhesion deficiency 3 [RCV000701213]|Leukocyte adhesion deficiency [RCV002466570]|not provided [RCV001529981]uncertain significance116421078264210782Human2name
14398979CV614361single nucleotide variantNM_031471.6(FERMT3):c.331C>T (p.Arg111Cys)Inborn genetic diseases [RCV002536597]|Leukocyte adhesion deficiency 3 [RCV000767975]likely benign|conflicting interpretations of pathogenicity|uncertain significance116421078164210781Human2name
14398982CV614363single nucleotide variantNM_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 significance116421169764211697Human2name , trait , alternate_id
14737282CV640238single nucleotide variantNM_031471.6(FERMT3):c.517G>A (p.Val173Met)Leukocyte adhesion deficiency 3 [RCV000820388]uncertain significance116421127764211277Human1name
14737381CV640239single nucleotide variantNM_031471.6(FERMT3):c.565G>A (p.Ala189Thr)Leukocyte adhesion deficiency 3 [RCV000804033]uncertain significance116421132564211325Human1name
14729599CV640242single nucleotide variantNM_031471.6(FERMT3):c.901A>G (p.Ile301Val)Leukocyte adhesion deficiency 3 [RCV000800561]uncertain significance116421953064219530Human1name
14715636CV640243single nucleotide variantNM_031471.6(FERMT3):c.992A>C (p.Glu331Ala)Leukocyte adhesion deficiency 3 [RCV000811283]uncertain significance116421962164219621Human1name
15148795CV724555single nucleotide variantNM_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 significance116421128764211287Human2name , trait , alternate_id
26921733CV838682single nucleotide variantNM_031471.6(FERMT3):c.536G>T (p.Arg179Leu)Leukocyte adhesion deficiency 3 [RCV001061264]uncertain significance116421129664211296Human1name
26912201CV838683single nucleotide variantNM_031471.6(FERMT3):c.608C>T (p.Pro203Leu)FERMT3-related disorder [RCV003411966]|Inborn genetic diseases [RCV002551438]|Leukocyte adhesion deficiency 3 [RCV001039076]uncertain significance116421136864211368Human2name , trait , alternate_id
26902591CV838684single nucleotide variantNM_031471.6(FERMT3):c.635G>A (p.Arg212His)Inborn genetic diseases [RCV002554639]|Leukocyte adhesion deficiency 3 [RCV001071937]uncertain significance116421139564211395Human2name
26896607CV838685single nucleotide variantNM_031471.6(FERMT3):c.731G>A (p.Gly244Glu)Inborn genetic diseases [RCV004031498]|Leukocyte adhesion deficiency 3 [RCV001048218]|not provided [RCV004693508]uncertain significance116421169264211692Human2name
38474299CV935651single nucleotide variantNM_031471.6(FERMT3):c.308G>A (p.Arg103Gln)Leukocyte adhesion deficiency 3 [RCV001203758]|not provided [RCV004695156]uncertain significance116421075864210758Human1name
38468110CV935652single nucleotide variantNM_031471.6(FERMT3):c.325G>A (p.Ala109Thr)Inborn genetic diseases [RCV004033873]|Leukocyte adhesion deficiency 3 [RCV001213075]uncertain significance116421077564210775Human2name
38479120CV935653single nucleotide variantNM_031471.6(FERMT3):c.535C>T (p.Arg179Trp)Inborn genetic diseases [RCV004978098]|Leukocyte adhesion deficiency 3 [RCV001205840]uncertain significance116421129564211295Human2name
38478044CV935654single nucleotide variantNM_031471.6(FERMT3):c.967C>G (p.Leu323Val)Leukocyte adhesion deficiency 3 [RCV001205366]uncertain significance116421959664219596Human1name
38486843CV947553single nucleotide variantNM_031471.6(FERMT3):c.616G>A (p.Asp206Asn)Leukocyte adhesion deficiency 3 [RCV001237298]uncertain significance116421137664211376Human1name
38496353CV947554single nucleotide variantNM_031471.6(FERMT3):c.629T>A (p.Leu210His)Inborn genetic diseases [RCV005340693]|Leukocyte adhesion deficiency 3 [RCV001226337]uncertain significance116421138964211389Human2name
38476071CV947555single nucleotide variantNM_031471.6(FERMT3):c.728C>G (p.Ala243Gly)Leukocyte adhesion deficiency 3 [RCV001232913]uncertain significance116421168964211689Human1name
38458088CV947556single nucleotide variantNM_031471.6(FERMT3):c.862G>A (p.Glu288Lys)Leukocyte adhesion deficiency 3 [RCV001228811]uncertain significance116421932664219326Human1name
126766195CV994624single nucleotide variantNM_031471.6(FERMT3):c.419C>T (p.Ser140Phe)Leukocyte adhesion deficiency 3 [RCV001301789]uncertain significance116421107664211076Human1name
126750234CV1009812single nucleotide variantNM_031471.6(FERMT3):c.1364G>A (p.Arg455His)Leukocyte adhesion deficiency 3 [RCV001326690]uncertain significance116422048864220488Human1name
126762347CV1009813single nucleotide variantNM_031471.6(FERMT3):c.1688A>G (p.Lys563Arg)Leukocyte adhesion deficiency 3 [RCV001318908]uncertain significance116422306564223065Human1name
126763135CV1030370single nucleotide variantNM_031471.6(FERMT3):c.1030G>T (p.Asp344Tyr)Leukocyte adhesion deficiency 3 [RCV001341166]uncertain significance116421974064219740Human1name
126751357CV1030371single nucleotide variantNM_031471.6(FERMT3):c.1119G>C (p.Trp373Cys)Inborn genetic diseases [RCV004035858]|Leukocyte adhesion deficiency 3 [RCV001338223]uncertain significance116421993064219930Human2name
126767914CV1030372single nucleotide variantNM_031471.6(FERMT3):c.1873C>T (p.Arg625Ter)Leukocyte adhesion deficiency 3 [RCV001343036]uncertain significance116422337364223373Human1name
126914518CV1047351single nucleotide variantNM_031471.6(FERMT3):c.1375G>A (p.Asp459Asn)Leukocyte adhesion deficiency 3 [RCV001359568]uncertain significance116422049964220499Human1name
126917753CV1047352single nucleotide variantNM_031471.6(FERMT3):c.1445G>A (p.Gly482Asp)Leukocyte adhesion deficiency 3 [RCV001361347]uncertain significance116422056964220569Human1name
126914595CV1047353single nucleotide variantNM_031471.6(FERMT3):c.1465G>A (p.Gly489Ser)Inborn genetic diseases [RCV005340838]|Leukocyte adhesion deficiency 3 [RCV001359596]uncertain significance116422058964220589Human2name
127303096CV1156772single nucleotide variantNM_031471.6(FERMT3):c.1430G>A (p.Arg477His)Inborn genetic diseases [RCV002568028]|Leukocyte adhesion deficiency 3 [RCV001515334]benign|uncertain significance116422055464220554Human2name
151760573CV1343246single nucleotide variantNM_031471.6(FERMT3):c.1819A>G (p.Ile607Val)Leukocyte adhesion deficiency 3 [RCV002024317]uncertain significance116422331964223319Human1name
151754722CV1343313single nucleotide variantNM_031471.6(FERMT3):c.1931G>C (p.Arg644Pro)Leukocyte adhesion deficiency 3 [RCV002043640]uncertain significance116422343164223431Human1name
151861801CV1369413single nucleotide variantNM_031471.6(FERMT3):c.1042A>G (p.Thr348Ala)Leukocyte adhesion deficiency 3 [RCV002034448]uncertain significance116421975264219752Human1name
151837251CV1371545single nucleotide variantNM_031471.6(FERMT3):c.1439G>C (p.Ser480Thr)Leukocyte adhesion deficiency 3 [RCV001921115]uncertain significance116422056364220563Human1name
151874558CV1388192single nucleotide variantNM_031471.6(FERMT3):c.1715A>G (p.Asn572Ser)Leukocyte adhesion deficiency 3 [RCV001981734]uncertain significance116422309264223092Human1name
151891752CV1394495single nucleotide variantNM_031471.6(FERMT3):c.1247T>G (p.Phe416Cys)Leukocyte adhesion deficiency 3 [RCV002039228]uncertain significance116422026264220262Human1name
151761413CV1400610single nucleotide variantNM_031471.6(FERMT3):c.1516C>A (p.Arg506Ser)Leukocyte adhesion deficiency 3 [RCV002007908]|not provided [RCV002293546]uncertain significance116422064064220640Human1name
151731167CV1419195single nucleotide variantNM_031471.6(FERMT3):c.1867A>G (p.Ser623Gly)Leukocyte adhesion deficiency 3 [RCV001946060]uncertain significance116422336764223367Human1name
151763551CV1425673single nucleotide variantNM_031471.6(FERMT3):c.1642G>A (p.Asp548Asn)Leukocyte adhesion deficiency 3 [RCV001928803]uncertain significance116422111264221112Human1name
151887512CV1426906single nucleotide variantNM_031471.6(FERMT3):c.1471G>C (p.Asp491His)Leukocyte adhesion deficiency 3 [RCV002038205]uncertain significance116422059564220595Human1name
151769311CV1441871single nucleotide variantNM_031471.6(FERMT3):c.1916C>T (p.Thr639Met)Leukocyte adhesion deficiency 3 [RCV002025199]uncertain significance116422341664223416Human1name
151804196CV1444128single nucleotide variantNM_031471.6(FERMT3):c.1516C>T (p.Arg506Cys)Leukocyte adhesion deficiency 3 [RCV001917986]uncertain significance116422064064220640Human1name
151780727CV1468763single nucleotide variantNM_031471.6(FERMT3):c.1108C>T (p.Arg370Cys)Leukocyte adhesion deficiency 3 [RCV002026233]uncertain significance116421991964219919Human1name
151818351CV1482096single nucleotide variantNM_031471.6(FERMT3):c.1904T>A (p.Ile635Asn)Leukocyte adhesion deficiency 3 [RCV002029644]uncertain significance116422340464223404Human1name
151760992CV1502831single nucleotide variantNM_031471.6(FERMT3):c.1013C>T (p.Ala338Val)Leukocyte adhesion deficiency 3 [RCV001913979]uncertain significance116421964264219642Human1name
151790680CV1509125single nucleotide variantNM_031471.6(FERMT3):c.1726C>T (p.Arg576Cys)Leukocyte adhesion deficiency 3 [RCV001876485]uncertain significance116422310364223103Human1name
152068282CV1567095single nucleotide variantNM_031471.6(FERMT3):c.1192C>T (p.Leu398Phe)Leukocyte adhesion deficiency 3 [RCV002091230]likely benign116422000364220003Human1name
153303845CV1686488single nucleotide variantNM_031471.6(FERMT3):c.1613G>A (p.Arg538His)Leukocyte adhesion deficiency 3 [RCV003101463]|not provided [RCV002261922]uncertain significance116422108364221083Human1name
8556966CV17749single nucleotide variantNM_031471.6(FERMT3):c.1717C>T (p.Arg573Ter)Leukocyte adhesion deficiency 3 [RCV000002829]pathogenic|likely pathogenic116422309464223094Human1name
8556968CV17751single nucleotide variantNM_031471.6(FERMT3):c.1525C>T (p.Arg509Ter)Leukocyte adhesion deficiency 3 [RCV000002831]pathogenic116422064964220649Human1name
156374734CV1871771single nucleotide variantNM_031471.6(FERMT3):c.1889A>G (p.Tyr630Cys)Leukocyte adhesion deficiency 3 [RCV003066611]uncertain significance116422338964223389Human1name
156352249CV1883336single nucleotide variantNM_031471.6(FERMT3):c.1483G>A (p.Glu495Lys)Leukocyte adhesion deficiency 3 [RCV003091071]uncertain significance116422060764220607Human1name
156335512CV1905974single nucleotide variantNM_031471.6(FERMT3):c.1887G>C (p.Glu629Asp)Inborn genetic diseases [RCV004073138]|Leukocyte adhesion deficiency 3 [RCV003090042]uncertain significance116422338764223387Human2name
156082929CV1909053single nucleotide variantNM_031471.6(FERMT3):c.1718G>A (p.Arg573Gln)Inborn genetic diseases [RCV002591640]|Leukocyte adhesion deficiency 3 [RCV002591639]uncertain significance116422309564223095Human2name
156408547CV1911664single nucleotide variantNM_031471.6(FERMT3):c.1807C>T (p.Arg603Trp)Leukocyte adhesion deficiency 3 [RCV002607269]uncertain significance116422318464223184Human1name
156367134CV1925608single nucleotide variantNM_031471.6(FERMT3):c.1077T>G (p.Phe359Leu)Inborn genetic diseases [RCV002633098]|Leukocyte adhesion deficiency 3 [RCV002633097]uncertain significance116421978764219787Human2name
156062902CV1975238single nucleotide variantNM_031471.6(FERMT3):c.1813G>A (p.Val605Met)Inborn genetic diseases [RCV004973497]|Leukocyte adhesion deficiency 3 [RCV002591036]uncertain significance116422331364223313Human2name
156398862CV1982065single nucleotide variantNM_031471.6(FERMT3):c.1732G>A (p.Asp578Asn)Leukocyte adhesion deficiency 3 [RCV002635777]uncertain significance116422310964223109Human1name
156299056CV2001872single nucleotide variantNM_031471.6(FERMT3):c.1979A>G (p.His660Arg)Leukocyte adhesion deficiency 3 [RCV002671077]uncertain significance116422347964223479Human1name
156276525CV2015050single nucleotide variantNM_031471.6(FERMT3):c.1070G>A (p.Arg357Gln)Leukocyte adhesion deficiency 3 [RCV002715156]uncertain significance116421978064219780Human1name
156110676CV2038755single nucleotide variantNM_031471.6(FERMT3):c.1222G>A (p.Asp408Asn)Leukocyte adhesion deficiency 3 [RCV002761680]uncertain significance116422023764220237Human1name
156007303CV2042436single nucleotide variantNM_031471.6(FERMT3):c.1187A>G (p.Gln396Arg)Leukocyte adhesion deficiency 3 [RCV002794909]uncertain significance116421999864219998Human1name
156247735CV2044805single nucleotide variantNM_031471.6(FERMT3):c.1352C>G (p.Ala451Gly)Leukocyte adhesion deficiency 3 [RCV002805901]uncertain significance116422047664220476Human1name
156186139CV2055766single nucleotide variantNM_031471.6(FERMT3):c.1766G>T (p.Arg589Leu)Leukocyte adhesion deficiency 3 [RCV002828460]uncertain significance116422314364223143Human1name
156335453CV2057743single nucleotide variantNM_031471.6(FERMT3):c.1634C>T (p.Ser545Phe)Leukocyte adhesion deficiency 3 [RCV002810914]uncertain significance116422110464221104Human1name
155939667CV2071507single nucleotide variantNM_031471.6(FERMT3):c.1907T>A (p.Phe636Tyr)Leukocyte adhesion deficiency 3 [RCV002861685]uncertain significance116422340764223407Human1name
155972684CV2135852single nucleotide variantNM_031471.6(FERMT3):c.1612C>T (p.Arg538Cys)Leukocyte adhesion deficiency 3 [RCV002995703]uncertain significance116422108264221082Human1name
156193304CV2146400single nucleotide variantNM_031471.6(FERMT3):c.1202A>C (p.Lys401Thr)Leukocyte adhesion deficiency 3 [RCV003006073]uncertain significance116422001364220013Human1name
156289402CV2155075single nucleotide variantNM_031471.6(FERMT3):c.1566A>T (p.Glu522Asp)Leukocyte adhesion deficiency 3 [RCV003009906]uncertain significance116422103664221036Human1name
156181741CV2155593single nucleotide variantNM_031471.6(FERMT3):c.1894G>A (p.Gly632Arg)Leukocyte adhesion deficiency 3 [RCV003005725]uncertain significance116422339464223394Human1name
156364242CV2167003single nucleotide variantNM_031471.6(FERMT3):c.1360G>A (p.Gly454Ser)Leukocyte adhesion deficiency 3 [RCV003031774]uncertain significance116422048464220484Human1name
156300890CV2170177single nucleotide variantNM_031471.6(FERMT3):c.1448C>G (p.Pro483Arg)Leukocyte adhesion deficiency 3 [RCV003045544]uncertain significance116422057264220572Human1name
156118794CV2174748single nucleotide variantNM_031471.6(FERMT3):c.1913C>A (p.Ser638Ter)Leukocyte adhesion deficiency 3 [RCV003055386]uncertain significance116422341364223413Human1name
156339607CV2271441single nucleotide variantNM_031471.6(FERMT3):c.1572C>A (p.His524Gln)Inborn genetic diseases [RCV002836143]uncertain significance116422104264221042Human1name
155904852CV2276192single nucleotide variantNM_031471.6(FERMT3):c.1433C>A (p.Thr478Lys)Inborn genetic diseases [RCV002837055]uncertain significance116422055764220557Human1name
329352250CV2452109single nucleotide variantNM_031471.6(FERMT3):c.1429C>T (p.Arg477Cys)Inborn genetic diseases [RCV003200315]uncertain significance116422055364220553Human1name
329397937CV2466462single nucleotide variantNM_031471.6(FERMT3):c.1225G>A (p.Val409Ile)Inborn genetic diseases [RCV003195808]uncertain significance116422024064220240Human1name
11637830CV271037single nucleotide variantNM_031471.6(FERMT3):c.1918C>T (p.Arg640Trp)Leukocyte adhesion deficiency 3 [RCV002519264]|not provided [RCV000292901]uncertain significance116422341864223418Human1name
405110281CV2876685single nucleotide variantNM_031471.6(FERMT3):c.1954C>T (p.Leu652Phe)Leukocyte adhesion deficiency 3 [RCV003499174]uncertain significance116422345464223454Human1name
405010948CV3064577single nucleotide variantNM_031471.6(FERMT3):c.1747G>A (p.Asp583Asn)Inborn genetic diseases [RCV004980984]|Leukocyte adhesion deficiency 3 [RCV003606835]uncertain significance116422312464223124Human2name
402489559CV3182311single nucleotide variantNM_031471.6(FERMT3):c.1454A>G (p.Asn485Ser)Leukocyte adhesion deficiency 3 [RCV003876797]uncertain significance116422057864220578Human1name
405744346CV3253372single nucleotide variantNM_031471.6(FERMT3):c.1096C>G (p.Leu366Val)Inborn genetic diseases [RCV004391823]uncertain significance116421990764219907Human1name
405744349CV3253373single nucleotide variantNM_031471.6(FERMT3):c.1175G>A (p.Gly392Glu)Inborn genetic diseases [RCV004391824]uncertain significance116421998664219986Human1name
407483988CV3439017single nucleotide variantNM_031471.6(FERMT3):c.1514C>T (p.Pro505Leu)Inborn genetic diseases [RCV004618658]uncertain significance116422063864220638Human1name
407484003CV3439020single nucleotide variantNM_031471.6(FERMT3):c.1295A>G (p.Tyr432Cys)Inborn genetic diseases [RCV004618661]uncertain significance116422031064220310Human1name
597653246CV3672460single nucleotide variantNM_031471.6(FERMT3):c.1687A>G (p.Lys563Glu)Inborn genetic diseases [RCV004975026]uncertain significance116422306464223064Human1name
597653253CV3672461single nucleotide variantNM_031471.6(FERMT3):c.1148A>C (p.Tyr383Ser)Inborn genetic diseases [RCV004975027]uncertain significance116421995964219959Human1name
597953235CV3776324single nucleotide variantNM_031471.6(FERMT3):c.1001T>C (p.Leu334Pro)Leukocyte adhesion deficiency 3 [RCV005121452]uncertain significance116421963064219630Human1name
597899350CV3782582single nucleotide variantNM_031471.6(FERMT3):c.1910T>G (p.Leu637Arg)Leukocyte adhesion deficiency 3 [RCV005126807]uncertain significance116422341064223410Human1name
597886505CV3787420single nucleotide variantNM_031471.6(FERMT3):c.1749C>A (p.Asp583Glu)Leukocyte adhesion deficiency 3 [RCV005124986]uncertain significance116422312664223126Human1name
597906214CV3856847single nucleotide variantNM_031471.6(FERMT3):c.1426C>T (p.Gln476Ter)Leukocyte adhesion deficiency 3 [RCV005202896]pathogenic116422055064220550Human1name
13482328CV461448single nucleotide variantNM_031471.6(FERMT3):c.1841A>G (p.Asn614Ser)Leukocyte adhesion deficiency 3 [RCV000551814]uncertain significance116422334164223341Human1name
13619461CV526362single nucleotide variantNM_031471.6(FERMT3):c.1158C>G (p.Ser386Arg)FERMT3-related disorder [RCV003953162]|Leukocyte adhesion deficiency 3 [RCV000646734]|not provided [RCV004705749]likely benign116421996964219969Human1name , trait , alternate_id
13802286CV565955single nucleotide variantNM_031471.6(FERMT3):c.1924C>T (p.Arg642Trp)Leukocyte adhesion deficiency 3 [RCV000705954]uncertain significance116422342464223424Human1name
13802266CV570767single nucleotide variantNM_031471.6(FERMT3):c.1895G>T (p.Gly632Val)Leukocyte adhesion deficiency 3 [RCV000699817]uncertain significance116422339564223395Human1name
14730365CV640244single nucleotide variantNM_031471.6(FERMT3):c.1237G>A (p.Gly413Ser)Inborn genetic diseases [RCV004028042]|Leukocyte adhesion deficiency 3 [RCV000800920]uncertain significance116422025264220252Human2name
14742793CV640245single nucleotide variantNM_031471.6(FERMT3):c.1400A>G (p.Gln467Arg)Inborn genetic diseases [RCV002535969]|Leukocyte adhesion deficiency 3 [RCV000823023]uncertain significance116422052464220524Human2name
14726481CV640246single nucleotide variantNM_031471.6(FERMT3):c.1472A>C (p.Asp491Ala)Leukocyte adhesion deficiency 3 [RCV000799221]|not specified [RCV004526775]uncertain significance116422059664220596Human1name
15173136CV724557single nucleotide variantNM_031471.6(FERMT3):c.1393G>A (p.Glu465Lys)Leukocyte adhesion deficiency 3 [RCV000883977]|not provided [RCV004718786]benign116422051764220517Human1name
15104835CV724558single nucleotide variantNM_031471.6(FERMT3):c.1523A>C (p.Gln508Pro)FERMT3-related disorder [RCV003957986]|Inborn genetic diseases [RCV003344121]|Leukocyte adhesion deficiency 3 [RCV000892963]likely benign|uncertain significance116422064764220647Human2name , trait , alternate_id
26890018CV838686single nucleotide variantNM_031471.6(FERMT3):c.1165G>A (p.Glu389Lys)Inborn genetic diseases [RCV002555861]|Leukocyte adhesion deficiency 3 [RCV001067681]uncertain significance116421997664219976Human2name
26923251CV838687single nucleotide variantNM_031471.6(FERMT3):c.1363C>T (p.Arg455Cys)Leukocyte adhesion deficiency 3 [RCV001063618]uncertain significance116422048764220487Human1name
26890483CV838688single nucleotide variantNM_031471.6(FERMT3):c.1448C>T (p.Pro483Leu)Inborn genetic diseases [RCV004031423]|Leukocyte adhesion deficiency 3 [RCV001046043]uncertain significance116422057264220572Human2name
26921075CV838689single nucleotide variantNM_031471.6(FERMT3):c.1504C>T (p.Leu502Phe)Leukocyte adhesion deficiency 3 [RCV001060639]uncertain significance116422062864220628Human1name
26885443CV838690single nucleotide variantNM_031471.6(FERMT3):c.1507G>A (p.Val503Ile)Leukocyte adhesion deficiency 3 [RCV001065452]uncertain significance116422063164220631Human1name
26888850CV838691single nucleotide variantNM_031471.6(FERMT3):c.1520T>G (p.Phe507Cys)Leukocyte adhesion deficiency 3 [RCV001045414]uncertain significance116422064464220644Human1name
26900307CV838692single nucleotide variantNM_031471.6(FERMT3):c.1708G>A (p.Ala570Thr)Inborn genetic diseases [RCV003160203]|Leukocyte adhesion deficiency 3 [RCV001035274]uncertain significance116422308564223085Human2name
26906198CV838693single nucleotide variantNM_031471.6(FERMT3):c.1808G>A (p.Arg603Gln)Inborn genetic diseases [RCV004973253]|Leukocyte adhesion deficiency 3 [RCV001037329]uncertain significance116422318564223185Human2name
26923773CV838694single nucleotide variantNM_031471.6(FERMT3):c.1828G>A (p.Asp610Asn)Leukocyte adhesion deficiency 3 [RCV001064612]|not provided [RCV004792706]uncertain significance116422332864223328Human1name
34895774CV917091single nucleotide variantNM_031471.6(FERMT3):c.1741G>A (p.Val581Met)Leukocyte adhesion deficiency 3 [RCV001349622]|not specified [RCV001192941]uncertain significance116422311864223118Human1name
38487042CV926313single nucleotide variantNM_031471.6(FERMT3):c.1139C>T (p.Thr380Ile)Leukocyte adhesion deficiency 3 [RCV001220582]uncertain significance116421995064219950Human1name
38492342CV926314single nucleotide variantNM_031471.6(FERMT3):c.1931G>A (p.Arg644His)Inborn genetic diseases [RCV004032477]|Leukocyte adhesion deficiency 3 [RCV001223521]uncertain significance116422343164223431Human2name
38484647CV935655single nucleotide variantNM_031471.6(FERMT3):c.1231G>A (p.Val411Ile)Inborn genetic diseases [RCV002561670]|Leukocyte adhesion deficiency 3 [RCV001208136]uncertain significance116422024664220246Human2name
38474609CV935656single nucleotide variantNM_031471.6(FERMT3):c.1361G>A (p.Gly454Asp)Leukocyte adhesion deficiency 3 [RCV001203893]uncertain significance116422048564220485Human1name
38483468CV935657single nucleotide variantNM_031471.6(FERMT3):c.1501G>A (p.Gly501Ser)Leukocyte adhesion deficiency 3 [RCV001207660]uncertain significance116422062564220625Human1name
38469911CV947557single nucleotide variantNM_031471.6(FERMT3):c.1301G>A (p.Arg434Gln)Leukocyte adhesion deficiency 3 [RCV001230850]uncertain significance116422031664220316Human1name
38497937CV947558single nucleotide variantNM_031471.6(FERMT3):c.1712A>T (p.Asn571Ile)Leukocyte adhesion deficiency 3 [RCV001227445]uncertain significance116422308964223089Human1name
156214118CV2087369deletionNM_031471.6(FERMT3):c.847_853del (p.Glu283fs)Leukocyte adhesion deficiency 3 [RCV002852944]pathogenic116421931064219316Human1name
13619458CV526360microsatelliteNM_031471.6(FERMT3):c.447GAA[3] (p.Lys153del)Leukocyte adhesion deficiency 3 [RCV000646731]uncertain significance116421110364211105Humanname
14721619CV640240deletionNM_031471.6(FERMT3):c.664_665del (p.Lys222fs)Leukocyte adhesion deficiency 3 [RCV000797176]pathogenic116421142464211425Human1name
26923430CV838681microsatelliteNM_031471.6(FERMT3):c.439AAG[1] (p.Lys148del)Leukocyte adhesion deficiency 3 [RCV001063972]uncertain significance116421109464211096Humanname
401873137CV2752030microsatelliteNM_031471.6(FERMT3):c.1601_1602del (p.Glu534fs)Leukocyte adhesion deficiency 3 [RCV003335907]pathogenic116422106964221070Humanname
14722970CV640247deletionNM_031471.6(FERMT3):c.1658_1659del (p.Tyr553fs)Leukocyte adhesion deficiency 3 [RCV000797769]uncertain significance116422112764221128Human1name
38475657CV926312indelNM_031471.6(FERMT3):c.104_105delinsTA (p.Arg35Leu)Leukocyte adhesion deficiency 3 [RCV001215278]uncertain significance116420746864207469Humanname
155960677CV2023612indelNM_031471.6(FERMT3):c.1917_1918delinsAG (p.Arg640Gly)Leukocyte adhesion deficiency 3 [RCV002731160]uncertain significance116422341764223418Humanname
405108301CV2922619deletionNM_031471.6(FERMT3):c.1469_1504del (p.Pro490_Gly501del)Leukocyte adhesion deficiency 3 [RCV003498772]uncertain significance116422058764220622Human1name