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Variants search result for Homo sapiens
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323 records found for search term Slc35c1
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
9481118CV153780variationSLC35C1, GLU31TERCongenital disorder of glycosylation type 2C [RCV000133550]pathogenicHumanname
8642815CV101799single nucleotide variantNM_018389.5(SLC35C1):c.-3A>GLeukocyte adhesion deficiency type II [RCV000397142]|not provided [RCV004717951]|not specified [RCV000081951]benign|likely benign114580579945805799Human3name
8642815CV101799single nucleotide variantNM_018389.5(SLC35C1):c.-3A>GLeukocyte adhesion deficiency type II [RCV000397142]|not provided [RCV004717951]|not specified [RCV000081951]benign|likely benign114580579945805800Human3name
12902133CV408352deletionNM_018389.5(SLC35C1):c.*5delnot specified [RCV000486357]likely benign114581133945811339Humanname
11544582CV254172single nucleotide variantNM_018389.5(SLC35C1):c.*49G>ALeukocyte adhesion deficiency type II [RCV000330911]|not provided [RCV001668559]|not specified [RCV000243982]benign114581138445811384Human1name
11610031CV314128single nucleotide variantNM_018389.5(SLC35C1):c.*72G>ALeukocyte adhesion deficiency type II [RCV000375845]uncertain significance114581140745811407Human1name
11620648CV327691single nucleotide variantNM_018389.5(SLC35C1):c.-88T>GLeukocyte adhesion deficiency type II [RCV000339573]uncertain significance114580571445805714Human1name
11664007CV314119single nucleotide variantNM_018389.4(SLC35C1):c.-678A>GLeukocyte adhesion deficiency type II [RCV000401771]uncertain significance114580512445805124Human1name
11608805CV314120single nucleotide variantNM_018389.4(SLC35C1):c.-657C>ALeukocyte adhesion deficiency type II [RCV000360022]|not provided [RCV004693037]uncertain significance114580514545805145Human1name
11644738CV314127single nucleotide variantNM_018389.5(SLC35C1):c.-569C>TLeukocyte adhesion deficiency type II [RCV000261723]uncertain significance114580523345805233Human1name
11648323CV314134single nucleotide variantNM_018389.5(SLC35C1):c.*244G>ALeukocyte adhesion deficiency type II [RCV000281365]uncertain significance114581157945811579Human1name
11657546CV314135single nucleotide variantNM_018389.5(SLC35C1):c.*572C>TLeukocyte adhesion deficiency type II [RCV000342281]uncertain significance114581190745811907Human1name
11610181CV314139single nucleotide variantNM_018389.5(SLC35C1):c.*647T>CLeukocyte adhesion deficiency type II [RCV000378349]uncertain significance114581198245811982Human1name
11601604CV314142single nucleotide variantNM_018389.5(SLC35C1):c.*650C>ALeukocyte adhesion deficiency type II [RCV000283891]uncertain significance114581198545811985Human1name
11603759CV320664single nucleotide variantNM_018389.4(SLC35C1):c.-665C>TLeukocyte adhesion deficiency type II [RCV000302960]likely benign|uncertain significance114580513745805137Human1name
11603091CV320670single nucleotide variantNM_018389.5(SLC35C1):c.-633T>GLeukocyte adhesion deficiency type II [RCV000296879]uncertain significance114580516945805169Human1name
11660980CV320683single nucleotide variantNM_018389.5(SLC35C1):c.*528G>ALeukocyte adhesion deficiency type II [RCV000372334]uncertain significance114581186345811863Human1name
11607816CV320684single nucleotide variantNM_018389.5(SLC35C1):c.*955C>ALeukocyte adhesion deficiency type II [RCV000347680]|not provided [RCV004718454]benign|likely benign114581229045812290Human1name
11624853CV326683single nucleotide variantNM_018389.5(SLC35C1):c.-653C>TLeukocyte adhesion deficiency type II [RCV000391699]uncertain significance114580514945805149Human1name
11621946CV326696single nucleotide variantNM_018389.5(SLC35C1):c.-632G>ALeukocyte adhesion deficiency type II [RCV000354148]|not provided [RCV001711907]benign114580517045805170Human1name
11660437CV326708single nucleotide variantNM_018389.5(SLC35C1):c.-518C>ALeukocyte adhesion deficiency type II [RCV000367133]uncertain significance114580528445805284Human1name
11647114CV326714single nucleotide variantNM_018389.5(SLC35C1):c.-481G>ALeukocyte adhesion deficiency type II [RCV000274805]uncertain significance114580532145805321Human1name
11615636CV326715single nucleotide variantNM_018389.5(SLC35C1):c.-303G>CLeukocyte adhesion deficiency type II [RCV000287881]|not provided [RCV001618529]benign|likely benign114580549945805499Human1name
11655534CV326718single nucleotide variantNM_018389.5(SLC35C1):c.-234T>GLeukocyte adhesion deficiency type II [RCV000326613]uncertain significance114580556845805568Human1name
11624290CV326719single nucleotide variantNM_018389.5(SLC35C1):c.-218G>CLeukocyte adhesion deficiency type II [RCV000383516]uncertain significance114580558445805584Human1name
11656267CV327675single nucleotide variantNM_018389.5(SLC35C1):c.-393C>TLeukocyte adhesion deficiency type II [RCV000332247]uncertain significance114580540945805409Human1name
11662766CV327679single nucleotide variantNM_018389.5(SLC35C1):c.-312T>CLeukocyte adhesion deficiency type II [RCV000389304]uncertain significance114580549045805490Human1name
11616065CV327680single nucleotide variantNM_018389.5(SLC35C1):c.-173C>TLeukocyte adhesion deficiency type II [RCV000291573]|not provided [RCV004718452]benign|likely benign114580562945805629Human1name
11618741CV327713single nucleotide variantNM_018389.5(SLC35C1):c.*414G>ALeukocyte adhesion deficiency type II [RCV000317657]|not provided [RCV004718453]benign|likely benign114581174945811749Human1name
11615563CV327714single nucleotide variantNM_018389.5(SLC35C1):c.*542A>TLeukocyte adhesion deficiency type II [RCV000287320]uncertain significance114581187745811877Human1name
28899261CV868006single nucleotide variantNM_018389.5(SLC35C1):c.-615G>CLeukocyte adhesion deficiency type II [RCV001103315]uncertain significance114580518745805187Human1name
28903635CV868007single nucleotide variantNM_018389.5(SLC35C1):c.-287C>GLeukocyte adhesion deficiency type II [RCV001105221]uncertain significance114580551545805515Human1name
28903828CV868011single nucleotide variantNM_018389.5(SLC35C1):c.*561C>TLeukocyte adhesion deficiency type II [RCV001105312]uncertain significance114581189645811896Human1name
28906098CV868012single nucleotide variantNM_018389.5(SLC35C1):c.*697G>ALeukocyte adhesion deficiency type II [RCV001106445]uncertain significance114581203245812032Human1name
11653000CV314143single nucleotide variantNM_018389.5(SLC35C1):c.*1156C>TLeukocyte adhesion deficiency type II [RCV000308466]uncertain significance114581249145812491Human1name
11607518CV314145single nucleotide variantNM_018389.5(SLC35C1):c.*1158C>TLeukocyte adhesion deficiency type II [RCV000344613]|not provided [RCV004718456]benign114581249345812493Human1name
11609464CV314146single nucleotide variantNM_018389.5(SLC35C1):c.*1315C>TLeukocyte adhesion deficiency type II [RCV000368795]|not provided [RCV004718458]benign114581265045812650Human1name
11610270CV314148single nucleotide variantNM_018389.5(SLC35C1):c.*1569G>CLeukocyte adhesion deficiency type II [RCV000379519]likely benign|uncertain significance114581290445812904Human1name
11645607CV314149duplicationNM_018389.5(SLC35C1):c.*1583dupCongenital disorder of glycosylation [RCV000266529]uncertain significance114581291245812913Human1name
11607677CV314151single nucleotide variantNM_018389.5(SLC35C1):c.*1636G>TLeukocyte adhesion deficiency type II [RCV000346305]likely benign|uncertain significance114581297145812971Human1name
11608475CV320685single nucleotide variantNM_018389.5(SLC35C1):c.*1404G>ALeukocyte adhesion deficiency type II [RCV000355367]|not provided [RCV004718459]benign|uncertain significance114581273945812739Human1name
11662004CV320688single nucleotide variantNM_018389.5(SLC35C1):c.*1647T>CLeukocyte adhesion deficiency type II [RCV000382153]uncertain significance114581298245812982Human1name
11618454CV326748single nucleotide variantNM_018389.5(SLC35C1):c.*1312T>CLeukocyte adhesion deficiency type II [RCV000314257]|not provided [RCV004718457]benign114581264745812647Human1name
11623692CV326757single nucleotide variantNM_018389.5(SLC35C1):c.*1619C>ALeukocyte adhesion deficiency type II [RCV000376191]uncertain significance114581295445812954Human1name
11616034CV326760single nucleotide variantNM_018389.5(SLC35C1):c.*1636G>ALeukocyte adhesion deficiency type II [RCV000291328]|not provided [RCV004718461]benign|likely benign114581297145812971Human1name
11625556CV327715single nucleotide variantNM_018389.5(SLC35C1):c.*1074C>TLeukocyte adhesion deficiency type II [RCV000400465]|not provided [RCV004718455]benign|likely benign114581240945812409Human1name
11625620CV327717single nucleotide variantNM_018389.5(SLC35C1):c.*1208G>ALeukocyte adhesion deficiency type II [RCV000401335]likely benign|uncertain significance114581254345812543Human1name
11614081CV327718single nucleotide variantNM_018389.5(SLC35C1):c.*1322A>GLeukocyte adhesion deficiency type II [RCV000274302]uncertain significance114581265745812657Human1name
11651697CV327721single nucleotide variantNM_018389.5(SLC35C1):c.*1373G>CLeukocyte adhesion deficiency type II [RCV000300566]uncertain significance114581270845812708Human1name
11612549CV327723single nucleotide variantNM_018389.5(SLC35C1):c.*1418C>ALeukocyte adhesion deficiency type II [RCV000260600]|not provided [RCV004693038]uncertain significance114581275345812753Human1name
11654219CV327725single nucleotide variantNM_018389.5(SLC35C1):c.*1426G>ALeukocyte adhesion deficiency type II [RCV000315874]uncertain significance114581276145812761Human1name
11619112CV327726single nucleotide variantNM_018389.5(SLC35C1):c.*1580C>TLeukocyte adhesion deficiency type II [RCV000321594]|not provided [RCV004718460]benign|likely benign114581291545812915Human1name
28906101CV868013single nucleotide variantNM_018389.5(SLC35C1):c.*1031G>ALeukocyte adhesion deficiency type II [RCV001106446]uncertain significance114581236645812366Human1name
28906103CV868014single nucleotide variantNM_018389.5(SLC35C1):c.*1127G>ALeukocyte adhesion deficiency type II [RCV001106447]uncertain significance114581246245812462Human1name
28909815CV868015single nucleotide variantNM_018389.5(SLC35C1):c.*1229C>TLeukocyte adhesion deficiency type II [RCV001108651]uncertain significance114581256445812564Human1name
28899714CV868016single nucleotide variantNM_018389.5(SLC35C1):c.*1419A>GLeukocyte adhesion deficiency type II [RCV001103488]uncertain significance114581275445812754Human1name
28899717CV868017single nucleotide variantNM_018389.5(SLC35C1):c.*1543C>GLeukocyte adhesion deficiency type II [RCV001103489]uncertain significance114581287845812878Human1name
28899720CV868018single nucleotide variantNM_018389.5(SLC35C1):c.*1582C>TLeukocyte adhesion deficiency type II [RCV001103490]uncertain significance114581291745812917Human1name
156383278CV2128208single nucleotide variantNM_018389.5(SLC35C1):c.535+20A>GLeukocyte adhesion deficiency type II [RCV002943307]likely benign114580635645806356Human1name
156367537CV2177793single nucleotide variantNM_018389.5(SLC35C1):c.536-16C>TLeukocyte adhesion deficiency type II [RCV003049450]likely benign114581076045810760Human1name
11552054CV254171single nucleotide variantNM_018389.5(SLC35C1):c.536-32A>Gnot provided [RCV001711573]|not specified [RCV000253872]benign114581074445810744Humanname
597901420CV3779100deletionNM_018389.5(SLC35C1):c.535+11delLeukocyte adhesion deficiency type II [RCV005127177]likely benign114580634745806347Human1name
597866129CV3857753single nucleotide variantNM_018389.5(SLC35C1):c.535+15G>ALeukocyte adhesion deficiency type II [RCV005196700]likely benign114580635145806351Human1name
15165479CV744497single nucleotide variantNM_018389.5(SLC35C1):c.536-10C>GLeukocyte adhesion deficiency type II [RCV001402366]likely benign114581076645810766Human1name
150339025CV1167528single nucleotide variantNM_018389.5(SLC35C1):c.536-295T>Cnot provided [RCV001533991]benign114581048145810481Humanname
150422409CV1180827single nucleotide variantNM_001145265.1(SLC35C1):c.-359A>Tnot provided [RCV001552596]likely benign114580419045804190Humanname
150451109CV1272463single nucleotide variantNM_001145265.1(SLC35C1):c.-154G>Anot provided [RCV001691944]benign114580439545804395Humanname
150478384CV1281938single nucleotide variantNM_018389.5(SLC35C1):c.535+138G>Anot provided [RCV001714286]benign114580647445806474Humanname
152156137CV1585941microsatelliteNM_018389.5(SLC35C1):c.536-21CTC[2]Leukocyte adhesion deficiency type II [RCV002140201]likely benign114581075545810757Humanname
11654668CV326701duplicationNM_018389.5(SLC35C1):c.-546_-540dupCongenital disorder of glycosylation [RCV000319479]uncertain significance114580524945805250Human1name
150478268CV1281900single nucleotide variantNM_001145265.2(SLC35C1):c.-32+493A>Gnot provided [RCV001714267]benign114580501045805010Humanname
405212640CV3169723single nucleotide variantNM_018389.5(SLC35C1):c.12C>T (p.Ala4=)Leukocyte adhesion deficiency type II [RCV003862322]likely benign114580581345805813Human1name
156309637CV2163947single nucleotide variantNM_018389.5(SLC35C1):c.60A>G (p.Ser20=)Leukocyte adhesion deficiency type II [RCV003045957]likely benign114580586145805861Human1name
405066492CV2949478single nucleotide variantNM_018389.5(SLC35C1):c.66C>T (p.Pro22=)Leukocyte adhesion deficiency type II [RCV003611841]likely benign114580586745805867Human1name
405233009CV3167960single nucleotide variantNM_018389.5(SLC35C1):c.84C>A (p.Ala28=)Leukocyte adhesion deficiency type II [RCV003865628]likely benign114580588545805885Human1name
15189992CV768456single nucleotide variantNM_018389.5(SLC35C1):c.51C>T (p.Thr17=)Leukocyte adhesion deficiency type II [RCV001106356]likely benign|conflicting interpretations of pathogenicity|uncertain significance114580585245805852Human1name
15113830CV784002single nucleotide variantNM_018389.5(SLC35C1):c.78A>G (p.Ala26=)Leukocyte adhesion deficiency type II [RCV001466783]likely benign114580587945805879Human1name
127308345CV1142286single nucleotide variantNM_018389.5(SLC35C1):c.198C>T (p.Pro66=)Leukocyte adhesion deficiency type II [RCV001500766]likely benign114580599945805999Human1name
151762064CV1346688single nucleotide variantNM_018389.5(SLC35C1):c.14C>T (p.Pro5Leu)Leukocyte adhesion deficiency type II [RCV001970307]uncertain significance114580581545805815Human1name
151845176CV1496610single nucleotide variantNM_018389.5(SLC35C1):c.10G>A (p.Ala4Thr)Leukocyte adhesion deficiency type II [RCV001922018]uncertain significance114580581145805811Human1name
152027890CV1521096single nucleotide variantNM_018389.5(SLC35C1):c.153C>G (p.Thr51=)Leukocyte adhesion deficiency type II [RCV002085280]likely benign114580595445805954Human1name
152132758CV1557309single nucleotide variantNM_018389.5(SLC35C1):c.207G>A (p.Arg69=)Leukocyte adhesion deficiency type II [RCV002137140]|not provided [RCV004706350]likely benign114580600845806008Human1name
152150240CV1636163single nucleotide variantNM_018389.5(SLC35C1):c.231C>G (p.Thr77=)Leukocyte adhesion deficiency type II [RCV002102117]likely benign114580603245806032Human1name
156362635CV1900707single nucleotide variantNM_018389.5(SLC35C1):c.255G>A (p.Thr85=)Leukocyte adhesion deficiency type II [RCV002581831]likely benign114580605645806056Human1name
156084640CV1909168single nucleotide variantNM_018389.5(SLC35C1):c.258G>A (p.Leu86=)Leukocyte adhesion deficiency type II [RCV002591693]likely benign114580605945806059Human1name
156176598CV1924278single nucleotide variantNM_018389.5(SLC35C1):c.291C>T (p.Cys97=)Leukocyte adhesion deficiency type II [RCV002624896]likely benign114580609245806092Human1name
156444178CV1937704single nucleotide variantNM_018389.5(SLC35C1):c.22C>T (p.Arg8Trp)Leukocyte adhesion deficiency type II [RCV003115099]uncertain significance114580582345805823Human1name
156281730CV2001428single nucleotide variantNM_018389.5(SLC35C1):c.108G>A (p.Leu36=)Leukocyte adhesion deficiency type II [RCV002646866]likely benign114580590945805909Human1name
156139270CV2006531single nucleotide variantNM_018389.5(SLC35C1):c.222C>A (p.Ile74=)Leukocyte adhesion deficiency type II [RCV002663506]likely benign114580602345806023Human1name
156147823CV2090961single nucleotide variantNM_018389.5(SLC35C1):c.204G>A (p.Leu68=)Leukocyte adhesion deficiency type II [RCV002890548]likely benign114580600545806005Human1name
156183633CV2178526single nucleotide variantNM_018389.5(SLC35C1):c.216C>T (p.Thr72=)Leukocyte adhesion deficiency type II [RCV003057607]likely benign114580601745806017Human1name
402467038CV2926871single nucleotide variantNM_018389.5(SLC35C1):c.183C>T (p.Tyr61=)Leukocyte adhesion deficiency type II [RCV003503438]likely benign114580598445805984Human1name
405082496CV3001572single nucleotide variantNM_018389.5(SLC35C1):c.150C>T (p.Val50=)Leukocyte adhesion deficiency type II [RCV003613055]likely benign114580595145805951Human1name
405058017CV3023430single nucleotide variantNM_018389.5(SLC35C1):c.255G>T (p.Thr85=)Leukocyte adhesion deficiency type II [RCV003611079]likely benign114580605645806056Human1name
405061944CV3051267single nucleotide variantNM_018389.5(SLC35C1):c.126G>C (p.Ala42=)Leukocyte adhesion deficiency type II [RCV003611409]likely benign114580592745805927Human1name
597897367CV3773906single nucleotide variantNM_018389.5(SLC35C1):c.285C>A (p.Ala95=)Leukocyte adhesion deficiency type II [RCV005111627]likely benign114580608645806086Human1name
597935752CV3811390single nucleotide variantNM_018389.5(SLC35C1):c.213C>T (p.Asp71=)Leukocyte adhesion deficiency type II [RCV005157905]likely benign114580601445806014Human1name
15105788CV784003single nucleotide variantNM_018389.5(SLC35C1):c.123C>T (p.Ile41=)Leukocyte adhesion deficiency type II [RCV001402015]likely benign114580592445805924Human1name
26900359CV838439single nucleotide variantNM_018389.5(SLC35C1):c.19A>G (p.Lys7Glu)Leukocyte adhesion deficiency type II [RCV001050132]uncertain significance114580582045805820Human1name
126757421CV1009688single nucleotide variantNM_018389.5(SLC35C1):c.804G>T (p.Gly268=)Leukocyte adhesion deficiency type II [RCV001317486]likely benign|uncertain significance114581104445811044Human1name
8642816CV101800single nucleotide variantNM_018389.5(SLC35C1):c.663G>A (p.Pro221=)Leukocyte adhesion deficiency type II [RCV001082133]|SLC35C1-related disorder [RCV003964940]|not provided [RCV000081952]likely benign|conflicting interpretations of pathogenicity|uncertain significance114581090345810903Human1name , trait , alternate_id
8642818CV101802single nucleotide variantNM_018389.5(SLC35C1):c.91G>T (p.Glu31Ter)Leukocyte adhesion deficiency type II [RCV000133550]|not provided [RCV000081954]pathogenic114580589245805892Human1name
126919263CV1047231single nucleotide variantNM_018389.5(SLC35C1):c.40A>G (p.Met14Val)Leukocyte adhesion deficiency type II [RCV001362194]uncertain significance114580584145805841Human1name
127233685CV1078242single nucleotide variantNM_018389.5(SLC35C1):c.633C>G (p.Leu211=)Leukocyte adhesion deficiency type II [RCV001396222]likely benign114581087345810873Human1name
127236265CV1078243single nucleotide variantNM_018389.5(SLC35C1):c.819C>T (p.Gly273=)Leukocyte adhesion deficiency type II [RCV001414638]likely benign114581105945811059Human1name
127259984CV1078244single nucleotide variantNM_018389.5(SLC35C1):c.933C>T (p.Ala311=)Leukocyte adhesion deficiency type II [RCV001402094]likely benign114581117345811173Human1name
127271771CV1099939single nucleotide variantNM_018389.5(SLC35C1):c.348C>T (p.Ser116=)Leukocyte adhesion deficiency type II [RCV001441945]likely benign114580614945806149Human1name
127279772CV1099940single nucleotide variantNM_018389.5(SLC35C1):c.354G>A (p.Leu118=)Leukocyte adhesion deficiency type II [RCV001445984]likely benign114580615545806155Human1name
127241607CV1099941single nucleotide variantNM_018389.5(SLC35C1):c.501C>T (p.Ser167=)Leukocyte adhesion deficiency type II [RCV001423588]likely benign114580630245806302Human1name
127233186CV1099942single nucleotide variantNM_018389.5(SLC35C1):c.636C>T (p.Asn212=)Leukocyte adhesion deficiency type II [RCV001421662]likely benign114581087645810876Human1name
127337478CV1121410single nucleotide variantNM_018389.5(SLC35C1):c.846C>T (p.Tyr282=)Leukocyte adhesion deficiency type II [RCV001475697]likely benign114581108645811086Human1name
127290629CV1121411single nucleotide variantNM_018389.5(SLC35C1):c.933C>G (p.Ala311=)Leukocyte adhesion deficiency type II [RCV001458491]likely benign114581117345811173Human1name
127326366CV1142287single nucleotide variantNM_018389.5(SLC35C1):c.858G>A (p.Leu286=)Leukocyte adhesion deficiency type II [RCV001506269]|SLC35C1-related disorder [RCV003900751]likely benign114581109845811098Human1name , trait , alternate_id
127299850CV1142288single nucleotide variantNM_018389.5(SLC35C1):c.939C>T (p.Leu313=)Leukocyte adhesion deficiency type II [RCV001498429]likely benign114581117945811179Human1name
151788908CV1413110single nucleotide variantNM_018389.5(SLC35C1):c.82G>A (p.Ala28Thr)Leukocyte adhesion deficiency type II [RCV001989883]uncertain significance114580588345805883Human1name
151791365CV1422713single nucleotide variantNM_018389.5(SLC35C1):c.85A>C (p.Asn29His)Leukocyte adhesion deficiency type II [RCV001916852]uncertain significance114580588645805886Human1name
152166442CV1524361single nucleotide variantNM_018389.5(SLC35C1):c.372C>T (p.Phe124=)Leukocyte adhesion deficiency type II [RCV002141924]|not provided [RCV004706354]likely benign114580617345806173Human1name
152125206CV1565527single nucleotide variantNM_018389.5(SLC35C1):c.303C>T (p.Ala101=)Leukocyte adhesion deficiency type II [RCV002136225]likely benign114580610445806104Human1name
152035795CV1590485single nucleotide variantNM_018389.5(SLC35C1):c.742C>T (p.Leu248=)Leukocyte adhesion deficiency type II [RCV002205553]likely benign114581098245810982Human1name
152051622CV1617107single nucleotide variantNM_018389.5(SLC35C1):c.630G>A (p.Ser210=)Leukocyte adhesion deficiency type II [RCV002072456]|SLC35C1-related disorder [RCV003968711]likely benign114581087045810870Human1name , trait , alternate_id
152036739CV1617839single nucleotide variantNM_018389.5(SLC35C1):c.672C>T (p.Asp224=)Leukocyte adhesion deficiency type II [RCV002125459]likely benign114581091245810912Human1name
152141504CV1625310single nucleotide variantNM_018389.5(SLC35C1):c.924A>G (p.Thr308=)Leukocyte adhesion deficiency type II [RCV002219434]likely benign114581116445811164Human1name
152088558CV1638929single nucleotide variantNM_018389.5(SLC35C1):c.495C>T (p.Thr165=)Leukocyte adhesion deficiency type II [RCV002150283]likely benign114580629645806296Human1name
152095300CV1661636single nucleotide variantNM_018389.5(SLC35C1):c.408G>A (p.Lys136=)Leukocyte adhesion deficiency type II [RCV002172368]likely benign114580620945806209Human1name
156327708CV1880979single nucleotide variantNM_018389.5(SLC35C1):c.705C>T (p.Asn235=)Leukocyte adhesion deficiency type II [RCV003063504]likely benign114581094545810945Human1name
156403927CV1886464single nucleotide variantNM_018389.5(SLC35C1):c.945C>T (p.Tyr315=)Leukocyte adhesion deficiency type II [RCV003069583]likely benign114581118545811185Human1name
156048014CV1887604single nucleotide variantNM_018389.5(SLC35C1):c.309C>T (p.Asp103=)Leukocyte adhesion deficiency type II [RCV003078767]likely benign114580611045806110Human1name
155954644CV1906996single nucleotide variantNM_018389.5(SLC35C1):c.954C>G (p.Thr318=)Leukocyte adhesion deficiency type II [RCV003095515]likely benign114581119445811194Human1name
156359958CV1910807single nucleotide variantNM_018389.5(SLC35C1):c.738C>G (p.Leu246=)Leukocyte adhesion deficiency type II [RCV002632606]likely benign114581097845810978Human1name
156415598CV1955344single nucleotide variantNM_018389.5(SLC35C1):c.453C>T (p.Thr151=)Leukocyte adhesion deficiency type II [RCV002589256]likely benign114580625445806254Human1name
156341218CV1961738single nucleotide variantNM_018389.5(SLC35C1):c.336G>A (p.Arg112=)Leukocyte adhesion deficiency type II [RCV002580516]|SLC35C1-related disorder [RCV003973426]likely benign114580613745806137Human1name , trait , alternate_id
156201732CV1978320single nucleotide variantNM_018389.5(SLC35C1):c.603C>T (p.Phe201=)Leukocyte adhesion deficiency type II [RCV002625749]likely benign114581084345810843Human1name
156392458CV2005936single nucleotide variantNM_018389.5(SLC35C1):c.411C>T (p.Tyr137=)Leukocyte adhesion deficiency type II [RCV002680902]likely benign114580621245806212Human1name
156008713CV2034849single nucleotide variantNM_018389.5(SLC35C1):c.549T>C (p.Leu183=)Leukocyte adhesion deficiency type II [RCV002780019]likely benign114581078945810789Human1name
156018255CV2046810single nucleotide variantNM_018389.5(SLC35C1):c.330C>T (p.Asp110=)Leukocyte adhesion deficiency type II [RCV002780518]likely benign114580613145806131Human1name
156283375CV2071328single nucleotide variantNM_018389.5(SLC35C1):c.42G>A (p.Met14Ile)Leukocyte adhesion deficiency type II [RCV002856466]uncertain significance114580584345805843Human1name
156279954CV2074674single nucleotide variantNM_018389.5(SLC35C1):c.580C>T (p.Leu194=)Leukocyte adhesion deficiency type II [RCV002856347]likely benign114581082045810820Human1name
156335054CV2109185single nucleotide variantNM_018389.5(SLC35C1):c.360G>A (p.Leu120=)Leukocyte adhesion deficiency type II [RCV002938582]likely benign114580616145806161Human1name
402469957CV2888841single nucleotide variantNM_018389.5(SLC35C1):c.345C>T (p.Arg115=)Leukocyte adhesion deficiency type II [RCV003504263]likely benign114580614645806146Human1name
405132066CV2896571single nucleotide variantNM_018389.5(SLC35C1):c.357C>T (p.Pro119=)Leukocyte adhesion deficiency type II [RCV003502246]likely benign114580615845806158Human1name
405131594CV2900338single nucleotide variantNM_018389.5(SLC35C1):c.651G>T (p.Thr217=)Leukocyte adhesion deficiency type II [RCV003502196]likely benign114581089145810891Human1name
405066794CV2960068single nucleotide variantNM_018389.5(SLC35C1):c.759G>A (p.Gln253=)Leukocyte adhesion deficiency type II [RCV003611864]likely benign114581099945810999Human1name
405077199CV2964427single nucleotide variantNM_018389.5(SLC35C1):c.58T>C (p.Ser20Pro)Leukocyte adhesion deficiency type II [RCV003612586]uncertain significance114580585945805859Human1name
405079428CV2984901single nucleotide variantNM_018389.5(SLC35C1):c.978C>T (p.Ser326=)Leukocyte adhesion deficiency type II [RCV003612781]likely benign114581121845811218Human1name
405079788CV2985445single nucleotide variantNM_018389.5(SLC35C1):c.861G>A (p.Gln287=)Leukocyte adhesion deficiency type II [RCV003612814]likely benign114581110145811101Human1name
405060525CV3042536single nucleotide variantNM_018389.5(SLC35C1):c.73G>A (p.Glu25Lys)Leukocyte adhesion deficiency type II [RCV003611285]uncertain significance114580587445805874Human1name
405113194CV3118721single nucleotide variantNM_018389.5(SLC35C1):c.447C>T (p.Leu149=)Leukocyte adhesion deficiency type II [RCV003813949]likely benign114580624845806248Human1name
405005379CV3120882single nucleotide variantNM_018389.5(SLC35C1):c.363G>A (p.Ser121=)Leukocyte adhesion deficiency type II [RCV003828485]likely benign114580616445806164Human1name
405032124CV3130295single nucleotide variantNM_018389.5(SLC35C1):c.567G>C (p.Gly189=)Leukocyte adhesion deficiency type II [RCV003830702]likely benign114581080745810807Human1name
405209149CV3145810single nucleotide variantNM_018389.5(SLC35C1):c.885C>T (p.Thr295=)Leukocyte adhesion deficiency type II [RCV003845540]likely benign114581112545811125Human1name
404978785CV3175981single nucleotide variantNM_018389.5(SLC35C1):c.744G>T (p.Leu248=)Leukocyte adhesion deficiency type II [RCV003880081]likely benign114581098445810984Human1name
11603862CV320679single nucleotide variantNM_018389.5(SLC35C1):c.522C>T (p.Cys174=)Leukocyte adhesion deficiency type II [RCV000636683]|not provided [RCV001701998]|not specified [RCV000445316]benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance114580632345806323Human1name
11608716CV320680single nucleotide variantNM_018389.5(SLC35C1):c.666G>A (p.Ala222=)Leukocyte adhesion deficiency type II [RCV000796347]conflicting interpretations of pathogenicity|uncertain significance114581090645810906Human1name
405271569CV3219078single nucleotide variantNM_018389.5(SLC35C1):c.717C>T (p.Cys239=)SLC35C1-related disorder [RCV003971788]likely benign114581095745810957Humanname , trait , alternate_id
11614753CV326725single nucleotide variantNM_018389.5(SLC35C1):c.29G>A (p.Arg10Lys)Inborn genetic diseases [RCV002520720]|Leukocyte adhesion deficiency type II [RCV000279679]|not provided [RCV000658193]conflicting interpretations of pathogenicity|uncertain significance114580583045805830Human2name
11613657CV326747single nucleotide variantNM_018389.5(SLC35C1):c.837C>T (p.Ala279=)Leukocyte adhesion deficiency type II [RCV000270125]|not provided [RCV000658194]conflicting interpretations of pathogenicity|uncertain significance114581107745811077Human1name
11618051CV327696single nucleotide variantNM_018389.5(SLC35C1):c.747C>T (p.Leu249=)Leukocyte adhesion deficiency type II [RCV000915597]|SLC35C1-related disorder [RCV003950019]|not provided [RCV003391072]|not specified [RCV000612643]likely benign|conflicting interpretations of pathogenicity|uncertain significance114581098745810987Human1name , trait , alternate_id
597892716CV3743875single nucleotide variantNM_018389.5(SLC35C1):c.996C>T (p.Gly332=)Leukocyte adhesion deficiency type II [RCV005071345]likely benign114581123645811236Human1name
597897345CV3744587single nucleotide variantNM_018389.5(SLC35C1):c.366G>T (p.Val122=)Leukocyte adhesion deficiency type II [RCV005071865]likely benign114580616745806167Human1name
597904460CV3784661single nucleotide variantNM_018389.5(SLC35C1):c.540C>T (p.Gly180=)Leukocyte adhesion deficiency type II [RCV005127712]likely benign114581078045810780Human1name
597942230CV3815569single nucleotide variantNM_018389.5(SLC35C1):c.519C>G (p.Thr173=)Leukocyte adhesion deficiency type II [RCV005159258]likely benign114580632045806320Human1name
597831920CV3830859single nucleotide variantNM_018389.5(SLC35C1):c.573A>G (p.Glu191=)Leukocyte adhesion deficiency type II [RCV005170257]likely benign114581081345810813Human1name
597890712CV3839785single nucleotide variantNM_018389.5(SLC35C1):c.651G>A (p.Thr217=)Leukocyte adhesion deficiency type II [RCV005179677]likely benign114581089145810891Human1name
597872433CV3849497single nucleotide variantNM_018389.5(SLC35C1):c.516C>T (p.Leu172=)Leukocyte adhesion deficiency type II [RCV005197678]likely benign114580631745806317Human1name
597937960CV3852253single nucleotide variantNM_018389.5(SLC35C1):c.358C>T (p.Leu120=)Leukocyte adhesion deficiency type II [RCV005186850]likely benign114580615945806159Human1name
598242680CV3914777single nucleotide variantNM_018389.5(SLC35C1):c.30G>T (p.Arg10Ser)Inborn genetic diseases [RCV005276576]uncertain significance114580583145805831Human1name
13495160CV461931single nucleotide variantNM_018389.5(SLC35C1):c.312C>T (p.Phe104=)Leukocyte adhesion deficiency type II [RCV000559428]likely benign114580611345806113Human1name
13534518CV503805single nucleotide variantNM_018389.5(SLC35C1):c.879G>A (p.Pro293=)Leukocyte adhesion deficiency type II [RCV000904674]|not specified [RCV000607347]likely benign114581111945811119Human1name
13620785CV526214single nucleotide variantNM_018389.5(SLC35C1):c.975G>A (p.Thr325=)Leukocyte adhesion deficiency type II [RCV002060732]likely benign114581121545811215Human1name
13620789CV526216single nucleotide variantNM_018389.5(SLC35C1):c.585G>A (p.Ser195=)Leukocyte adhesion deficiency type II [RCV000636685]likely benign114581082545810825Human1name
13620783CV526221single nucleotide variantNM_018389.5(SLC35C1):c.903G>T (p.Thr301=)Leukocyte adhesion deficiency type II [RCV000636680]likely benign114581114345811143Human1name
13620861CV526406single nucleotide variantNM_018389.5(SLC35C1):c.645C>T (p.Tyr215=)Leukocyte adhesion deficiency type II [RCV000636678]likely benign114581088545810885Human1name
13620778CV526699single nucleotide variantNM_018389.5(SLC35C1):c.534C>T (p.Ile178=)Leukocyte adhesion deficiency type II [RCV000636677]uncertain significance114580633545806335Human1name
13620781CV526702single nucleotide variantNM_018389.5(SLC35C1):c.840C>T (p.Ile280=)Leukocyte adhesion deficiency type II [RCV000636679]likely benign114581108045811080Human1name
13806665CV570667single nucleotide variantNM_018389.5(SLC35C1):c.88G>A (p.Gly30Arg)Inborn genetic diseases [RCV002544746]|Leukocyte adhesion deficiency type II [RCV000686350]uncertain significance114580588945805889Human2name
14399055CV614359single nucleotide variantNM_018389.5(SLC35C1):c.402C>T (p.Cys134=)Leukocyte adhesion deficiency type II [RCV000768091]conflicting interpretations of pathogenicity|uncertain significance114580620345806203Human1name
14709056CV640065single nucleotide variantNM_018389.5(SLC35C1):c.903G>A (p.Thr301=)Leukocyte adhesion deficiency type II [RCV000809232]likely benign|uncertain significance114581114345811143Human1name
15190430CV737981single nucleotide variantNM_018389.5(SLC35C1):c.597C>T (p.Thr199=)Leukocyte adhesion deficiency type II [RCV001858566]likely benign114581083745810837Human1name
15193786CV752673single nucleotide variantNM_018389.5(SLC35C1):c.564G>A (p.Glu188=)Leukocyte adhesion deficiency type II [RCV002542116]likely benign114581080445810804Human1name
15102564CV784005single nucleotide variantNM_018389.5(SLC35C1):c.711C>T (p.Asn237=)Leukocyte adhesion deficiency type II [RCV001447100]|not provided [RCV003392714]likely benign114581095145810951Human1name
28905949CV868008single nucleotide variantNM_018389.5(SLC35C1):c.58T>G (p.Ser20Ala)Leukocyte adhesion deficiency type II [RCV001106357]uncertain significance114580585945805859Human1name
28909704CV868009single nucleotide variantNM_018389.5(SLC35C1):c.738C>T (p.Leu246=)Leukocyte adhesion deficiency type II [RCV001108568]conflicting interpretations of pathogenicity|uncertain significance114581097845810978Human1name
38478411CV935548single nucleotide variantNM_018389.5(SLC35C1):c.606C>T (p.Gly202=)Leukocyte adhesion deficiency type II [RCV001205539]likely benign|uncertain significance114581084645810846Human1name
38462845CV956500single nucleotide variantNM_018389.5(SLC35C1):c.897G>A (p.Ser299=)Leukocyte adhesion deficiency type II [RCV001247199]likely benign|uncertain significance114581113745811137Human1name
126761096CV994518single nucleotide variantNM_018389.5(SLC35C1):c.840C>A (p.Ile280=)Leukocyte adhesion deficiency type II [RCV001309499]likely benign|uncertain significance114581108045811080Human1name
126738941CV1017454single nucleotide variantNM_018389.5(SLC35C1):c.184C>G (p.Leu62Val)Leukocyte adhesion deficiency type II [RCV001329070]uncertain significance114580598545805985Human1name
151884765CV1452749single nucleotide variantNM_018389.5(SLC35C1):c.260T>C (p.Leu87Pro)Leukocyte adhesion deficiency type II [RCV002037619]uncertain significance114580606145806061Human1name
151892478CV1481174single nucleotide variantNM_018389.5(SLC35C1):c.226G>C (p.Val76Leu)Leukocyte adhesion deficiency type II [RCV001944154]uncertain significance114580602745806027Human1name
151733479CV1512432single nucleotide variantNM_018389.5(SLC35C1):c.139C>T (p.Leu47Phe)Inborn genetic diseases [RCV004681411]|Leukocyte adhesion deficiency type II [RCV002021538]uncertain significance114580594045805940Human2name
152148868CV1545287single nucleotide variantNM_018389.5(SLC35C1):c.1080C>T (p.Ser360=)Leukocyte adhesion deficiency type II [RCV002121463]likely benign114581132045811320Human1name
152064799CV1583255single nucleotide variantNM_018389.5(SLC35C1):c.1008C>T (p.Ala336=)Leukocyte adhesion deficiency type II [RCV002110625]likely benign114581124845811248Human1name
156415798CV1987545single nucleotide variantNM_018389.5(SLC35C1):c.1005C>T (p.Ser335=)Leukocyte adhesion deficiency type II [RCV002609840]likely benign114581124545811245Human1name
156239685CV2028099single nucleotide variantNM_018389.5(SLC35C1):c.286G>A (p.Ala96Thr)Leukocyte adhesion deficiency type II [RCV002745619]uncertain significance114580608745806087Human1name
156352306CV2065915single nucleotide variantNM_018389.5(SLC35C1):c.271C>T (p.Leu91Phe)Leukocyte adhesion deficiency type II [RCV002811874]uncertain significance114580607245806072Human1name
156109564CV2121083single nucleotide variantNM_018389.5(SLC35C1):c.209T>G (p.Leu70Arg)Leukocyte adhesion deficiency type II [RCV002953054]uncertain significance114580601045806010Human1name
401904274CV2816578single nucleotide variantNM_018389.5(SLC35C1):c.1020C>T (p.Val340=)not provided [RCV003394823]likely benign114581126045811260Humanname
11620268CV326729single nucleotide variantNM_018389.5(SLC35C1):c.151A>G (p.Thr51Ala)Inborn genetic diseases [RCV002522197]|Leukocyte adhesion deficiency type II [RCV000334681]uncertain significance114580595245805952Human2name
11647315CV327697single nucleotide variantNM_018389.5(SLC35C1):c.1062C>T (p.Pro354=)Leukocyte adhesion deficiency type II [RCV000275882]uncertain significance114581130245811302Human1name
12837575CV372383single nucleotide variantNM_018389.5(SLC35C1):c.1032G>A (p.Glu344=)not specified [RCV000425409]likely benign114581127245811272Humanname
12836394CV372386single nucleotide variantNM_018389.5(SLC35C1):c.1047G>A (p.Pro349=)Leukocyte adhesion deficiency type II [RCV000636684]|not provided [RCV003392251]|not specified [RCV000423319]benign|likely benign114581128745811287Human1name
597921388CV3777350single nucleotide variantNM_018389.5(SLC35C1):c.1002C>A (p.Ser334=)Leukocyte adhesion deficiency type II [RCV005130279]likely benign114581124245811242Human1name
13620776CV526399single nucleotide variantNM_018389.5(SLC35C1):c.116T>C (p.Leu39Ser)Inborn genetic diseases [RCV002529853]|Leukocyte adhesion deficiency type II [RCV000636676]uncertain significance114580591745805917Human2name
13620775CV526404single nucleotide variantNM_018389.5(SLC35C1):c.120G>T (p.Gln40His)Leukocyte adhesion deficiency type II [RCV000636675]uncertain significance114580592145805921Human1name
15130004CV737980single nucleotide variantNM_018389.5(SLC35C1):c.226G>A (p.Val76Ile)Inborn genetic diseases [RCV002540158]|Leukocyte adhesion deficiency type II [RCV001106358]benign|conflicting interpretations of pathogenicity|uncertain significance114580602745806027Human2name
15163118CV752674single nucleotide variantNM_018389.5(SLC35C1):c.1038G>A (p.Lys346=)not provided [RCV000926048]likely benign114581127845811278Humanname
15146434CV784004single nucleotide variantNM_018389.5(SLC35C1):c.130G>A (p.Val44Met)Leukocyte adhesion deficiency type II [RCV000983854]likely benign114580593145805931Human1name
26903040CV838440single nucleotide variantNM_018389.5(SLC35C1):c.192C>G (p.Asp64Glu)Leukocyte adhesion deficiency type II [RCV001067142]uncertain significance114580599345805993Human1name
26903403CV838441single nucleotide variantNM_018389.5(SLC35C1):c.200C>T (p.Ser67Phe)Inborn genetic diseases [RCV002554576]|Leukocyte adhesion deficiency type II [RCV001069373]uncertain significance114580600145806001Human2name
26899796CV838442single nucleotide variantNM_018389.5(SLC35C1):c.254C>T (p.Thr85Met)Leukocyte adhesion deficiency type II [RCV001046850]|not provided [RCV004590052]uncertain significance114580605545806055Human1name
26898556CV838444deletionNM_018389.5(SLC35C1):c.367del (p.Val123fs)Leukocyte adhesion deficiency type II [RCV001038135]pathogenic114580616745806167Human1name
38484842CV926247single nucleotide variantNM_018389.5(SLC35C1):c.163A>G (p.Met55Val)Leukocyte adhesion deficiency type II [RCV001219599]uncertain significance114580596445805964Human1name
38477078CV935546single nucleotide variantNM_018389.5(SLC35C1):c.120G>C (p.Gln40His)Inborn genetic diseases [RCV005278756]|Leukocyte adhesion deficiency type II [RCV001204930]uncertain significance114580592145805921Human2name
38459594CV935547single nucleotide variantNM_018389.5(SLC35C1):c.220A>G (p.Ile74Val)Inborn genetic diseases [RCV004963205]|Leukocyte adhesion deficiency type II [RCV001211667]uncertain significance114580602145806021Human2name
126773634CV1009687single nucleotide variantNM_018389.5(SLC35C1):c.607G>A (p.Val203Met)Leukocyte adhesion deficiency type II [RCV001324445]uncertain significance114581084745810847Human1name
126741706CV1009689single nucleotide variantNM_018389.5(SLC35C1):c.866A>G (p.Lys289Arg)Leukocyte adhesion deficiency type II [RCV001325380]uncertain significance114581110645811106Human1name
126738948CV1017455single nucleotide variantNM_018389.5(SLC35C1):c.969G>C (p.Trp323Cys)Leukocyte adhesion deficiency type II [RCV001329071]uncertain significance114581120945811209Human1name
8642817CV101801single nucleotide variantNM_018389.5(SLC35C1):c.718A>G (p.Ile240Val)Leukocyte adhesion deficiency type II [RCV000398854]|not provided [RCV004717952]|not specified [RCV000081953]benign|likely benign114581095845810958Human1name
126736083CV1020869single nucleotide variantNM_018389.5(SLC35C1):c.997G>A (p.Gly333Ser)Leukocyte adhesion deficiency type II [RCV001334998]uncertain significance114581123745811237Human1name
126728546CV1030250single nucleotide variantNM_018389.5(SLC35C1):c.323G>C (p.Arg108Pro)Leukocyte adhesion deficiency type II [RCV001348947]uncertain significance114580612445806124Human1name
126751194CV1030251single nucleotide variantNM_018389.5(SLC35C1):c.662C>T (p.Pro221Leu)Leukocyte adhesion deficiency type II [RCV001352391]uncertain significance114581090245810902Human1name
127296198CV1162246single nucleotide variantNM_018389.5(SLC35C1):c.891T>A (p.Asn297Lys)Leukocyte adhesion deficiency type II [RCV001527370]pathogenic114581113145811131Human1name
150339240CV1174758single nucleotide variantNM_018389.5(SLC35C1):c.887A>G (p.His296Arg)Leukocyte adhesion deficiency type II [RCV001543359]likely pathogenic114581112745811127Human1name
151661874CV1330078single nucleotide variantNM_018389.5(SLC35C1):c.841G>A (p.Gly281Ser)Leukocyte adhesion deficiency type II [RCV001823489]uncertain significance114581108145811081Human1name
151842909CV1339142single nucleotide variantNM_018389.5(SLC35C1):c.410A>C (p.Tyr137Ser)Leukocyte adhesion deficiency type II [RCV001977917]uncertain significance114580621145806211Human1name
151824994CV1351056single nucleotide variantNM_018389.5(SLC35C1):c.956A>C (p.Lys319Thr)Leukocyte adhesion deficiency type II [RCV001919934]uncertain significance114581119645811196Human1name
151723373CV1358200single nucleotide variantNM_018389.5(SLC35C1):c.433G>A (p.Val145Met)Inborn genetic diseases [RCV002556382]|Leukocyte adhesion deficiency type II [RCV001945220]uncertain significance114580623445806234Human2name
151724201CV1369717single nucleotide variantNM_018389.5(SLC35C1):c.776C>T (p.Ala259Val)Leukocyte adhesion deficiency type II [RCV001945313]uncertain significance114581101645811016Human1name
151798640CV1373663single nucleotide variantNM_018389.5(SLC35C1):c.706G>A (p.Val236Ile)Inborn genetic diseases [RCV005271459]|Leukocyte adhesion deficiency type II [RCV001917506]uncertain significance114581094645810946Human2name
151883238CV1384132single nucleotide variantNM_018389.5(SLC35C1):c.820G>A (p.Gly274Ser)Leukocyte adhesion deficiency type II [RCV001886895]uncertain significance114581106045811060Human1name
151834943CV1394319single nucleotide variantNM_018389.5(SLC35C1):c.535G>A (p.Gly179Arg)Leukocyte adhesion deficiency type II [RCV002051103]uncertain significance114580633645806336Human1name
151833507CV1396355deletionNM_018389.5(SLC35C1):c.1021del (p.Arg341fs)Leukocyte adhesion deficiency type II [RCV001902043]uncertain significance114581126145811261Human1name
151835746CV1397931single nucleotide variantNM_018389.5(SLC35C1):c.769G>T (p.Asp257Tyr)Leukocyte adhesion deficiency type II [RCV001977121]uncertain significance114581100945811009Human1name
151825516CV1404225single nucleotide variantNM_018389.5(SLC35C1):c.640A>G (p.Ile214Val)Leukocyte adhesion deficiency type II [RCV001976146]uncertain significance114581088045810880Human1name
151788139CV1419735single nucleotide variantNM_018389.5(SLC35C1):c.656T>C (p.Val219Ala)Leukocyte adhesion deficiency type II [RCV001951772]uncertain significance114581089645810896Human1name
151749367CV1431150single nucleotide variantNM_018389.5(SLC35C1):c.674G>A (p.Gly225Asp)Leukocyte adhesion deficiency type II [RCV001912822]uncertain significance114581091445810914Human1name
151748421CV1442293single nucleotide variantNM_018389.5(SLC35C1):c.877C>A (p.Pro293Thr)Leukocyte adhesion deficiency type II [RCV002043009]uncertain significance114581111745811117Human1name
151793064CV1447037single nucleotide variantNM_018389.5(SLC35C1):c.330C>G (p.Asp110Glu)Leukocyte adhesion deficiency type II [RCV001876691]uncertain significance114580613145806131Human1name
151840826CV1462647single nucleotide variantNM_018389.5(SLC35C1):c.934G>A (p.Val312Met)Leukocyte adhesion deficiency type II [RCV002015311]uncertain significance114581117445811174Human1name
151805486CV1482053single nucleotide variantNM_018389.5(SLC35C1):c.778C>T (p.Gln260Ter)Leukocyte adhesion deficiency type II [RCV002048367]pathogenic|likely pathogenic114581101845811018Human1name
151853522CV1514668single nucleotide variantNM_018389.5(SLC35C1):c.407A>G (p.Lys136Arg)Leukocyte adhesion deficiency type II [RCV001979251]uncertain significance114580620845806208Human1name
153348681CV1692725single nucleotide variantNM_018389.5(SLC35C1):c.478C>G (p.Leu160Val)not provided [RCV002274581]uncertain significance114580627945806279Humanname
9686850CV171504single nucleotide variantNM_018389.5(SLC35C1):c.556G>A (p.Asp186Asn)Prostate cancer [RCV000149068]uncertain significance114581079645810796Human2name
155743429CV1777510single nucleotide variantNM_018389.5(SLC35C1):c.340G>C (p.Ala114Pro)Leukocyte adhesion deficiency type II [RCV002302999]uncertain significance114580614145806141Human1name
156217256CV1910713single nucleotide variantNM_018389.5(SLC35C1):c.506A>G (p.Tyr169Cys)Leukocyte adhesion deficiency type II [RCV002596319]uncertain significance114580630745806307Human1name
8558256CV19778single nucleotide variantNM_018389.5(SLC35C1):c.439C>T (p.Arg147Cys)Leukocyte adhesion deficiency type II [RCV000005005]pathogenic|likely pathogenic114580624045806240Human1name
8558257CV19779single nucleotide variantNM_018389.5(SLC35C1):c.923C>G (p.Thr308Arg)Leukocyte adhesion deficiency type II [RCV000005006]pathogenic114581116345811163Human1name
156364525CV2003468single nucleotide variantNM_018389.5(SLC35C1):c.344G>A (p.Arg115His)Leukocyte adhesion deficiency type II [RCV002676467]uncertain significance114580614545806145Human1name
156152643CV2049160single nucleotide variantNM_018389.5(SLC35C1):c.836C>G (p.Ala279Gly)Leukocyte adhesion deficiency type II [RCV002801342]uncertain significance114581107645811076Human1name
156328877CV2050506single nucleotide variantNM_018389.5(SLC35C1):c.751G>A (p.Glu251Lys)Leukocyte adhesion deficiency type II [RCV002810562]uncertain significance114581099145810991Human1name
156295012CV2073433single nucleotide variantNM_018389.5(SLC35C1):c.622T>C (p.Cys208Arg)Leukocyte adhesion deficiency type II [RCV002833359]uncertain significance114581086245810862Human1name
156167144CV2102264single nucleotide variantNM_018389.5(SLC35C1):c.916G>T (p.Ala306Ser)Leukocyte adhesion deficiency type II [RCV002891209]uncertain significance114581115645811156Human1name
10405692CV213609single nucleotide variantNM_018389.5(SLC35C1):c.872C>T (p.Thr291Ile)Leukocyte adhesion deficiency type II [RCV000197101]likely pathogenic|conflicting interpretations of pathogenicity114581111245811112Human1name
156108326CV2140021single nucleotide variantNM_018389.5(SLC35C1):c.854G>T (p.Gly285Val)Leukocyte adhesion deficiency type II [RCV003002487]uncertain significance114581109445811094Human1name
155936778CV2150008single nucleotide variantNM_018389.5(SLC35C1):c.381G>T (p.Met127Ile)Leukocyte adhesion deficiency type II [RCV003013995]uncertain significance114580618245806182Human1name
156334412CV2191634single nucleotide variantNM_018389.5(SLC35C1):c.595A>G (p.Thr199Ala)Leukocyte adhesion deficiency type II [RCV003063880]uncertain significance114581083545810835Human1name
156366058CV2192313single nucleotide variantNM_018389.5(SLC35C1):c.593G>C (p.Gly198Ala)Leukocyte adhesion deficiency type II [RCV003065959]uncertain significance114581083345810833Human1name
156131644CV2279979single nucleotide variantNM_018389.5(SLC35C1):c.325C>G (p.Leu109Val)Inborn genetic diseases [RCV002849734]uncertain significance114580612645806126Human1name
156357166CV2318249single nucleotide variantNM_018389.5(SLC35C1):c.461A>C (p.Asn154Thr)Inborn genetic diseases [RCV002940789]uncertain significance114580626245806262Human1name
156448667CV2402076single nucleotide variantNM_018389.5(SLC35C1):c.847G>A (p.Val283Met)Leukocyte adhesion deficiency type II [RCV003120235]uncertain significance114581108745811087Human1name
401886052CV2771589single nucleotide variantNM_018389.5(SLC35C1):c.775G>A (p.Ala259Thr)Inborn genetic diseases [RCV003366734]uncertain significance114581101545811015Human1name
405077084CV2967762single nucleotide variantNM_018389.5(SLC35C1):c.737T>A (p.Leu246His)Leukocyte adhesion deficiency type II [RCV003612577]uncertain significance114581097745810977Human1name
405075208CV3072223single nucleotide variantNM_018389.5(SLC35C1):c.791C>T (p.Ala264Val)Leukocyte adhesion deficiency type II [RCV003612471]uncertain significance114581103145811031Human1name
11622787CV326743single nucleotide variantNM_018389.5(SLC35C1):c.748G>A (p.Gly250Arg)Inborn genetic diseases [RCV004021512]|Leukocyte adhesion deficiency type II [RCV000873118]likely benign|conflicting interpretations of pathogenicity|uncertain significance114581098845810988Human2name
11663793CV327692single nucleotide variantNM_018389.5(SLC35C1):c.440G>A (p.Arg147His)Leukocyte adhesion deficiency type II [RCV000399632]uncertain significance114580624145806241Human1name
405784413CV3332717single nucleotide variantNM_018389.5(SLC35C1):c.603C>G (p.Phe201Leu)Inborn genetic diseases [RCV004459235]uncertain significance114581084345810843Human1name
407487243CV3484418single nucleotide variantNM_018389.5(SLC35C1):c.349G>A (p.Val117Ile)Inborn genetic diseases [RCV004672586]uncertain significance114580615045806150Human1name
408366928CV3508039single nucleotide variantNM_018389.5(SLC35C1):c.907A>G (p.Lys303Glu)SLC35C1-related disorder [RCV004757653]uncertain significance114581114745811147Humanname , trait , alternate_id
408395065CV3522335single nucleotide variantNM_018389.5(SLC35C1):c.641T>C (p.Ile214Thr)Leukocyte adhesion deficiency type II [RCV004765412]uncertain significance114581088145810881Human1name
12847886CV371423single nucleotide variantNM_018389.5(SLC35C1):c.476A>G (p.Tyr159Cys)not provided [RCV000444284]uncertain significance114580627745806277Humanname
597924899CV3778044single nucleotide variantNM_018389.5(SLC35C1):c.313C>G (p.Pro105Ala)Leukocyte adhesion deficiency type II [RCV005130768]uncertain significance114580611445806114Human1name
13493127CV461331single nucleotide variantNM_018389.5(SLC35C1):c.672C>G (p.Asp224Glu)Leukocyte adhesion deficiency type II [RCV000535457]uncertain significance114581091245810912Human1name
13520731CV495481single nucleotide variantNM_018389.5(SLC35C1):c.942C>G (p.Tyr314Ter)Leukocyte adhesion deficiency type II [RCV003611523]|not provided [RCV000598876]pathogenic|likely pathogenic114581118245811182Human1name
13620787CV526219single nucleotide variantNM_018389.5(SLC35C1):c.598G>A (p.Val200Ile)Inborn genetic diseases [RCV002528886]|Leukocyte adhesion deficiency type II [RCV000636682]|not provided [RCV001356757]likely benign|uncertain significance114581083845810838Human2name
13809287CV564634single nucleotide variantNM_018389.5(SLC35C1):c.679A>G (p.Ile227Val)Leukocyte adhesion deficiency type II [RCV000702059]uncertain significance114581091945810919Human1name
13816119CV565791single nucleotide variantNM_018389.5(SLC35C1):c.356C>A (p.Pro119His)Leukocyte adhesion deficiency type II [RCV000692109]uncertain significance114580615745806157Human1name
14730332CV640059single nucleotide variantNM_018389.5(SLC35C1):c.712G>A (p.Ala238Thr)Leukocyte adhesion deficiency type II [RCV000800907]uncertain significance114581095245810952Human1name
14735968CV640060single nucleotide variantNM_018389.5(SLC35C1):c.754C>G (p.Leu252Val)Leukocyte adhesion deficiency type II [RCV000803409]uncertain significance114581099445810994Human1name
14740413CV640061single nucleotide variantNM_018389.5(SLC35C1):c.766C>T (p.Arg256Cys)Inborn genetic diseases [RCV005278677]|Leukocyte adhesion deficiency type II [RCV000821789]uncertain significance114581100645811006Human2name
14723530CV640062single nucleotide variantNM_018389.5(SLC35C1):c.767G>A (p.Arg256His)Inborn genetic diseases [RCV002538192]|Leukocyte adhesion deficiency type II [RCV000814387]likely benign|uncertain significance114581100745811007Human2name
14743978CV640063single nucleotide variantNM_018389.5(SLC35C1):c.878C>T (p.Pro293Leu)Leukocyte adhesion deficiency type II [RCV000823793]uncertain significance114581111845811118Human1name
14737140CV640064single nucleotide variantNM_018389.5(SLC35C1):c.890A>G (p.Asn297Ser)Inborn genetic diseases [RCV004028158]|Leukocyte adhesion deficiency type II [RCV000803906]uncertain significance114581113045811130Human2name
15173916CV789126single nucleotide variantNM_018389.5(SLC35C1):c.842G>A (p.Gly281Asp)Leukocyte adhesion deficiency type II [RCV000984510]uncertain significance114581108245811082Human1name
26899431CV838443single nucleotide variantNM_018389.5(SLC35C1):c.323G>T (p.Arg108Leu)Leukocyte adhesion deficiency type II [RCV001044176]uncertain significance114580612445806124Human1name
26899292CV838445single nucleotide variantNM_018389.5(SLC35C1):c.412G>A (p.Val138Ile)Leukocyte adhesion deficiency type II [RCV001043425]uncertain significance114580621345806213Human1name
26903443CV838446single nucleotide variantNM_018389.5(SLC35C1):c.718A>C (p.Ile240Leu)Leukocyte adhesion deficiency type II [RCV001069656]uncertain significance114581095845810958Human1name
26899197CV838447single nucleotide variantNM_018389.5(SLC35C1):c.854G>A (p.Gly285Glu)Leukocyte adhesion deficiency type II [RCV001042656]uncertain significance114581109445811094Human1name
26900805CV838448single nucleotide variantNM_018389.5(SLC35C1):c.896C>T (p.Ser299Leu)Leukocyte adhesion deficiency type II [RCV001054025]uncertain significance114581113645811136Human1name
28909706CV868010single nucleotide variantNM_018389.5(SLC35C1):c.812C>T (p.Thr271Met)Inborn genetic diseases [RCV002555059]|Leukocyte adhesion deficiency type II [RCV001108569]uncertain significance114581105245811052Human2name
38477438CV926248single nucleotide variantNM_018389.5(SLC35C1):c.482T>C (p.Leu161Pro)Leukocyte adhesion deficiency type II [RCV001216139]uncertain significance114580628345806283Human1name
38479051CV926249single nucleotide variantNM_018389.5(SLC35C1):c.983T>G (p.Met328Arg)Leukocyte adhesion deficiency type II [RCV001216894]uncertain significance114581122345811223Human1name
38489328CV935549single nucleotide variantNM_018389.5(SLC35C1):c.902C>T (p.Thr301Met)Leukocyte adhesion deficiency type II [RCV001210159]uncertain significance114581114245811142Human1name
38471356CV935550single nucleotide variantNM_018389.5(SLC35C1):c.974C>T (p.Thr325Met)Leukocyte adhesion deficiency type II [RCV001213756]uncertain significance114581121445811214Human1name
38483735CV947459single nucleotide variantNM_018389.5(SLC35C1):c.650C>T (p.Thr217Met)Inborn genetic diseases [RCV005278779]|Leukocyte adhesion deficiency type II [RCV001236046]uncertain significance114581089045810890Human2name
38476212CV947460single nucleotide variantNM_018389.5(SLC35C1):c.673G>A (p.Gly225Ser)Leukocyte adhesion deficiency type II [RCV001232974]uncertain significance114581091345810913Human1name
38475287CV947461single nucleotide variantNM_018389.5(SLC35C1):c.998G>C (p.Gly333Ala)Leukocyte adhesion deficiency type II [RCV001232561]uncertain significance114581123845811238Human1name
38462876CV956497single nucleotide variantNM_018389.5(SLC35C1):c.307G>T (p.Asp103Tyr)Leukocyte adhesion deficiency type II [RCV001246949]uncertain significance114580610845806108Human1name
38492572CV956498single nucleotide variantNM_018389.5(SLC35C1):c.375C>G (p.Ile125Met)Leukocyte adhesion deficiency type II [RCV001240162]uncertain significance114580617645806176Human1name
38499297CV956499single nucleotide variantNM_018389.5(SLC35C1):c.377G>A (p.Gly126Asp)Leukocyte adhesion deficiency type II [RCV001244446]uncertain significance114580617845806178Human1name
126762868CV994519single nucleotide variantNM_018389.5(SLC35C1):c.983T>C (p.Met328Thr)Leukocyte adhesion deficiency type II [RCV001300519]uncertain significance114581122345811223Human1name
151879721CV1411111single nucleotide variantNM_018389.5(SLC35C1):c.1018G>A (p.Val340Ile)Leukocyte adhesion deficiency type II [RCV002019978]uncertain significance114581125845811258Human1name
151780272CV1446232single nucleotide variantNM_018389.5(SLC35C1):c.1085T>C (p.Met362Thr)Leukocyte adhesion deficiency type II [RCV001989066]uncertain significance114581132545811325Human1name
151736696CV1461876single nucleotide variantNM_018389.5(SLC35C1):c.1046C>T (p.Pro349Leu)Leukocyte adhesion deficiency type II [RCV001967706]uncertain significance114581128645811286Human1name
151777691CV1466575single nucleotide variantNM_018389.5(SLC35C1):c.1053G>T (p.Glu351Asp)Leukocyte adhesion deficiency type II [RCV001896944]|not provided [RCV004591625]uncertain significance114581129345811293Human1name
152999874CV1683421single nucleotide variantNM_018389.5(SLC35C1):c.1088G>A (p.Gly363Glu)See cases [RCV002252605]uncertain significance114581132845811328Humanname
156128247CV2012558single nucleotide variantNM_018389.5(SLC35C1):c.1004C>T (p.Ser335Phe)Leukocyte adhesion deficiency type II [RCV002696302]uncertain significance114581124445811244Human1name
156276668CV2015077single nucleotide variantNM_018389.5(SLC35C1):c.1079G>A (p.Ser360Asn)Leukocyte adhesion deficiency type II [RCV002715161]uncertain significance114581131945811319Human1name
11525689CV247057single nucleotide variantNM_018389.5(SLC35C1):c.1054C>T (p.Pro352Ser)Leukocyte adhesion deficiency type II [RCV000551565]|SLC35C1-related disorder [RCV003920004]|not provided [RCV001722279]|not specified [RCV000238714]benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance114581129445811294Human1name , trait , alternate_id
11605863CV320682single nucleotide variantNM_018389.5(SLC35C1):c.1013C>T (p.Thr338Ile)Leukocyte adhesion deficiency type II [RCV000324924]uncertain significance114581125345811253Human1name
407488738CV3484417single nucleotide variantNM_018389.5(SLC35C1):c.1035G>A (p.Met345Ile)Inborn genetic diseases [RCV004683691]uncertain significance114581127545811275Human1name
407487247CV3484419single nucleotide variantNM_018389.5(SLC35C1):c.1084A>C (p.Met362Leu)Inborn genetic diseases [RCV004672587]uncertain significance114581132445811324Human1name
12837161CV372164single nucleotide variantNM_018389.5(SLC35C1):c.1055C>A (p.Pro352His)Inborn genetic diseases [RCV004668972]|Leukocyte adhesion deficiency type II [RCV000763740]|not provided [RCV000424691]uncertain significance114581129545811295Human2name
597881418CV3857467single nucleotide variantNM_018389.5(SLC35C1):c.1043C>A (p.Thr348Asn)Leukocyte adhesion deficiency type II [RCV005199084]uncertain significance114581128345811283Human1name
598242667CV3914775single nucleotide variantNM_018389.5(SLC35C1):c.1061C>G (p.Pro354Arg)Inborn genetic diseases [RCV005276574]uncertain significance114581130145811301Human1name
13528898CV513601single nucleotide variantNM_018389.5(SLC35C1):c.1001C>A (p.Ser334Tyr)Leukocyte adhesion deficiency type II [RCV000626150]likely pathogenic|uncertain significance114581124145811241Human1name
14733302CV640066single nucleotide variantNM_018389.5(SLC35C1):c.1025G>T (p.Gly342Val)Leukocyte adhesion deficiency type II [RCV000802239]uncertain significance114581126545811265Human1name
14715671CV640067single nucleotide variantNM_018389.5(SLC35C1):c.1031A>G (p.Glu344Gly)Inborn genetic diseases [RCV002538093]|Leukocyte adhesion deficiency type II [RCV000811294]uncertain significance114581127145811271Human2name
14722518CV640068single nucleotide variantNM_018389.5(SLC35C1):c.1081G>A (p.Ala361Thr)Inborn genetic diseases [RCV004669135]|Leukocyte adhesion deficiency type II [RCV000813933]uncertain significance114581132145811321Human2name
126762989CV994520single nucleotide variantNM_018389.5(SLC35C1):c.1090G>T (p.Val364Leu)Leukocyte adhesion deficiency type II [RCV001310051]uncertain significance114581133045811330Human1name
151737040CV1354941microsatelliteNM_018389.5(SLC35C1):c.940TAC[1] (p.Tyr315del)Leukocyte adhesion deficiency type II [RCV001892875]uncertain significance114581117945811181Humanname
151864741CV1346770inversionNM_018389.5(SLC35C1):c.717_718inv (p.Ile240Val)Leukocyte adhesion deficiency type II [RCV001959682]likely benign114581095745810958Humanname
9481119CV153781deletionNM_018389.5(SLC35C1):c.503_505del (p.Phe168del)Leukocyte adhesion deficiency type II [RCV000133551]|SLC35C1-related disorder [RCV004757134]|not provided [RCV000513734]pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance114580630245806304Human1name , trait , alternate_id
329351353CV2476489deletionNM_018389.5(SLC35C1):c.1021_1022del (p.Arg341fs)not provided [RCV003222721]uncertain significance114581126145811262Humanname
151820392CV1390803microsatelliteNM_018389.5(SLC35C1):c.465GCT[3] (p.Leu157_Ser158insLeu)Leukocyte adhesion deficiency type II [RCV001992713]uncertain significance114580626445806265Humanname