| 9481118 | CV153780 | variation | SLC35C1, GLU31TER | Congenital disorder of glycosylation type 2C [RCV000133550] | pathogenic | | | | Human | | name |
| 8642815 | CV101799 | single nucleotide variant | NM_018389.5(SLC35C1):c.-3A>G | Leukocyte adhesion deficiency type II [RCV000397142]|not provided [RCV004717951]|not specified [RCV000081951] | benign|likely benign | 11 | 45805799 | 45805799 | Human | 3 | name |
| 8642815 | CV101799 | single nucleotide variant | NM_018389.5(SLC35C1):c.-3A>G | Leukocyte adhesion deficiency type II [RCV000397142]|not provided [RCV004717951]|not specified [RCV000081951] | benign|likely benign | 11 | 45805799 | 45805800 | Human | 3 | name |
| 12902133 | CV408352 | deletion | NM_018389.5(SLC35C1):c.*5del | not specified [RCV000486357] | likely benign | 11 | 45811339 | 45811339 | Human | | name |
| 11544582 | CV254172 | single nucleotide variant | NM_018389.5(SLC35C1):c.*49G>A | Leukocyte adhesion deficiency type II [RCV000330911]|not provided [RCV001668559]|not specified [RCV000243982] | benign | 11 | 45811384 | 45811384 | Human | 1 | name |
| 11610031 | CV314128 | single nucleotide variant | NM_018389.5(SLC35C1):c.*72G>A | Leukocyte adhesion deficiency type II [RCV000375845] | uncertain significance | 11 | 45811407 | 45811407 | Human | 1 | name |
| 11620648 | CV327691 | single nucleotide variant | NM_018389.5(SLC35C1):c.-88T>G | Leukocyte adhesion deficiency type II [RCV000339573] | uncertain significance | 11 | 45805714 | 45805714 | Human | 1 | name |
| 11664007 | CV314119 | single nucleotide variant | NM_018389.4(SLC35C1):c.-678A>G | Leukocyte adhesion deficiency type II [RCV000401771] | uncertain significance | 11 | 45805124 | 45805124 | Human | 1 | name |
| 11608805 | CV314120 | single nucleotide variant | NM_018389.4(SLC35C1):c.-657C>A | Leukocyte adhesion deficiency type II [RCV000360022]|not provided [RCV004693037] | uncertain significance | 11 | 45805145 | 45805145 | Human | 1 | name |
| 11644738 | CV314127 | single nucleotide variant | NM_018389.5(SLC35C1):c.-569C>T | Leukocyte adhesion deficiency type II [RCV000261723] | uncertain significance | 11 | 45805233 | 45805233 | Human | 1 | name |
| 11648323 | CV314134 | single nucleotide variant | NM_018389.5(SLC35C1):c.*244G>A | Leukocyte adhesion deficiency type II [RCV000281365] | uncertain significance | 11 | 45811579 | 45811579 | Human | 1 | name |
| 11657546 | CV314135 | single nucleotide variant | NM_018389.5(SLC35C1):c.*572C>T | Leukocyte adhesion deficiency type II [RCV000342281] | uncertain significance | 11 | 45811907 | 45811907 | Human | 1 | name |
| 11610181 | CV314139 | single nucleotide variant | NM_018389.5(SLC35C1):c.*647T>C | Leukocyte adhesion deficiency type II [RCV000378349] | uncertain significance | 11 | 45811982 | 45811982 | Human | 1 | name |
| 11601604 | CV314142 | single nucleotide variant | NM_018389.5(SLC35C1):c.*650C>A | Leukocyte adhesion deficiency type II [RCV000283891] | uncertain significance | 11 | 45811985 | 45811985 | Human | 1 | name |
| 11603759 | CV320664 | single nucleotide variant | NM_018389.4(SLC35C1):c.-665C>T | Leukocyte adhesion deficiency type II [RCV000302960] | likely benign|uncertain significance | 11 | 45805137 | 45805137 | Human | 1 | name |
| 11603091 | CV320670 | single nucleotide variant | NM_018389.5(SLC35C1):c.-633T>G | Leukocyte adhesion deficiency type II [RCV000296879] | uncertain significance | 11 | 45805169 | 45805169 | Human | 1 | name |
| 11660980 | CV320683 | single nucleotide variant | NM_018389.5(SLC35C1):c.*528G>A | Leukocyte adhesion deficiency type II [RCV000372334] | uncertain significance | 11 | 45811863 | 45811863 | Human | 1 | name |
| 11607816 | CV320684 | single nucleotide variant | NM_018389.5(SLC35C1):c.*955C>A | Leukocyte adhesion deficiency type II [RCV000347680]|not provided [RCV004718454] | benign|likely benign | 11 | 45812290 | 45812290 | Human | 1 | name |
| 11624853 | CV326683 | single nucleotide variant | NM_018389.5(SLC35C1):c.-653C>T | Leukocyte adhesion deficiency type II [RCV000391699] | uncertain significance | 11 | 45805149 | 45805149 | Human | 1 | name |
| 11621946 | CV326696 | single nucleotide variant | NM_018389.5(SLC35C1):c.-632G>A | Leukocyte adhesion deficiency type II [RCV000354148]|not provided [RCV001711907] | benign | 11 | 45805170 | 45805170 | Human | 1 | name |
| 11660437 | CV326708 | single nucleotide variant | NM_018389.5(SLC35C1):c.-518C>A | Leukocyte adhesion deficiency type II [RCV000367133] | uncertain significance | 11 | 45805284 | 45805284 | Human | 1 | name |
| 11647114 | CV326714 | single nucleotide variant | NM_018389.5(SLC35C1):c.-481G>A | Leukocyte adhesion deficiency type II [RCV000274805] | uncertain significance | 11 | 45805321 | 45805321 | Human | 1 | name |
| 11615636 | CV326715 | single nucleotide variant | NM_018389.5(SLC35C1):c.-303G>C | Leukocyte adhesion deficiency type II [RCV000287881]|not provided [RCV001618529] | benign|likely benign | 11 | 45805499 | 45805499 | Human | 1 | name |
| 11655534 | CV326718 | single nucleotide variant | NM_018389.5(SLC35C1):c.-234T>G | Leukocyte adhesion deficiency type II [RCV000326613] | uncertain significance | 11 | 45805568 | 45805568 | Human | 1 | name |
| 11624290 | CV326719 | single nucleotide variant | NM_018389.5(SLC35C1):c.-218G>C | Leukocyte adhesion deficiency type II [RCV000383516] | uncertain significance | 11 | 45805584 | 45805584 | Human | 1 | name |
| 11656267 | CV327675 | single nucleotide variant | NM_018389.5(SLC35C1):c.-393C>T | Leukocyte adhesion deficiency type II [RCV000332247] | uncertain significance | 11 | 45805409 | 45805409 | Human | 1 | name |
| 11662766 | CV327679 | single nucleotide variant | NM_018389.5(SLC35C1):c.-312T>C | Leukocyte adhesion deficiency type II [RCV000389304] | uncertain significance | 11 | 45805490 | 45805490 | Human | 1 | name |
| 11616065 | CV327680 | single nucleotide variant | NM_018389.5(SLC35C1):c.-173C>T | Leukocyte adhesion deficiency type II [RCV000291573]|not provided [RCV004718452] | benign|likely benign | 11 | 45805629 | 45805629 | Human | 1 | name |
| 11618741 | CV327713 | single nucleotide variant | NM_018389.5(SLC35C1):c.*414G>A | Leukocyte adhesion deficiency type II [RCV000317657]|not provided [RCV004718453] | benign|likely benign | 11 | 45811749 | 45811749 | Human | 1 | name |
| 11615563 | CV327714 | single nucleotide variant | NM_018389.5(SLC35C1):c.*542A>T | Leukocyte adhesion deficiency type II [RCV000287320] | uncertain significance | 11 | 45811877 | 45811877 | Human | 1 | name |
| 28899261 | CV868006 | single nucleotide variant | NM_018389.5(SLC35C1):c.-615G>C | Leukocyte adhesion deficiency type II [RCV001103315] | uncertain significance | 11 | 45805187 | 45805187 | Human | 1 | name |
| 28903635 | CV868007 | single nucleotide variant | NM_018389.5(SLC35C1):c.-287C>G | Leukocyte adhesion deficiency type II [RCV001105221] | uncertain significance | 11 | 45805515 | 45805515 | Human | 1 | name |
| 28903828 | CV868011 | single nucleotide variant | NM_018389.5(SLC35C1):c.*561C>T | Leukocyte adhesion deficiency type II [RCV001105312] | uncertain significance | 11 | 45811896 | 45811896 | Human | 1 | name |
| 28906098 | CV868012 | single nucleotide variant | NM_018389.5(SLC35C1):c.*697G>A | Leukocyte adhesion deficiency type II [RCV001106445] | uncertain significance | 11 | 45812032 | 45812032 | Human | 1 | name |
| 11653000 | CV314143 | single nucleotide variant | NM_018389.5(SLC35C1):c.*1156C>T | Leukocyte adhesion deficiency type II [RCV000308466] | uncertain significance | 11 | 45812491 | 45812491 | Human | 1 | name |
| 11607518 | CV314145 | single nucleotide variant | NM_018389.5(SLC35C1):c.*1158C>T | Leukocyte adhesion deficiency type II [RCV000344613]|not provided [RCV004718456] | benign | 11 | 45812493 | 45812493 | Human | 1 | name |
| 11609464 | CV314146 | single nucleotide variant | NM_018389.5(SLC35C1):c.*1315C>T | Leukocyte adhesion deficiency type II [RCV000368795]|not provided [RCV004718458] | benign | 11 | 45812650 | 45812650 | Human | 1 | name |
| 11610270 | CV314148 | single nucleotide variant | NM_018389.5(SLC35C1):c.*1569G>C | Leukocyte adhesion deficiency type II [RCV000379519] | likely benign|uncertain significance | 11 | 45812904 | 45812904 | Human | 1 | name |
| 11645607 | CV314149 | duplication | NM_018389.5(SLC35C1):c.*1583dup | Congenital disorder of glycosylation [RCV000266529] | uncertain significance | 11 | 45812912 | 45812913 | Human | 1 | name |
| 11607677 | CV314151 | single nucleotide variant | NM_018389.5(SLC35C1):c.*1636G>T | Leukocyte adhesion deficiency type II [RCV000346305] | likely benign|uncertain significance | 11 | 45812971 | 45812971 | Human | 1 | name |
| 11608475 | CV320685 | single nucleotide variant | NM_018389.5(SLC35C1):c.*1404G>A | Leukocyte adhesion deficiency type II [RCV000355367]|not provided [RCV004718459] | benign|uncertain significance | 11 | 45812739 | 45812739 | Human | 1 | name |
| 11662004 | CV320688 | single nucleotide variant | NM_018389.5(SLC35C1):c.*1647T>C | Leukocyte adhesion deficiency type II [RCV000382153] | uncertain significance | 11 | 45812982 | 45812982 | Human | 1 | name |
| 11618454 | CV326748 | single nucleotide variant | NM_018389.5(SLC35C1):c.*1312T>C | Leukocyte adhesion deficiency type II [RCV000314257]|not provided [RCV004718457] | benign | 11 | 45812647 | 45812647 | Human | 1 | name |
| 11623692 | CV326757 | single nucleotide variant | NM_018389.5(SLC35C1):c.*1619C>A | Leukocyte adhesion deficiency type II [RCV000376191] | uncertain significance | 11 | 45812954 | 45812954 | Human | 1 | name |
| 11616034 | CV326760 | single nucleotide variant | NM_018389.5(SLC35C1):c.*1636G>A | Leukocyte adhesion deficiency type II [RCV000291328]|not provided [RCV004718461] | benign|likely benign | 11 | 45812971 | 45812971 | Human | 1 | name |
| 11625556 | CV327715 | single nucleotide variant | NM_018389.5(SLC35C1):c.*1074C>T | Leukocyte adhesion deficiency type II [RCV000400465]|not provided [RCV004718455] | benign|likely benign | 11 | 45812409 | 45812409 | Human | 1 | name |
| 11625620 | CV327717 | single nucleotide variant | NM_018389.5(SLC35C1):c.*1208G>A | Leukocyte adhesion deficiency type II [RCV000401335] | likely benign|uncertain significance | 11 | 45812543 | 45812543 | Human | 1 | name |
| 11614081 | CV327718 | single nucleotide variant | NM_018389.5(SLC35C1):c.*1322A>G | Leukocyte adhesion deficiency type II [RCV000274302] | uncertain significance | 11 | 45812657 | 45812657 | Human | 1 | name |
| 11651697 | CV327721 | single nucleotide variant | NM_018389.5(SLC35C1):c.*1373G>C | Leukocyte adhesion deficiency type II [RCV000300566] | uncertain significance | 11 | 45812708 | 45812708 | Human | 1 | name |
| 11612549 | CV327723 | single nucleotide variant | NM_018389.5(SLC35C1):c.*1418C>A | Leukocyte adhesion deficiency type II [RCV000260600]|not provided [RCV004693038] | uncertain significance | 11 | 45812753 | 45812753 | Human | 1 | name |
| 11654219 | CV327725 | single nucleotide variant | NM_018389.5(SLC35C1):c.*1426G>A | Leukocyte adhesion deficiency type II [RCV000315874] | uncertain significance | 11 | 45812761 | 45812761 | Human | 1 | name |
| 11619112 | CV327726 | single nucleotide variant | NM_018389.5(SLC35C1):c.*1580C>T | Leukocyte adhesion deficiency type II [RCV000321594]|not provided [RCV004718460] | benign|likely benign | 11 | 45812915 | 45812915 | Human | 1 | name |
| 28906101 | CV868013 | single nucleotide variant | NM_018389.5(SLC35C1):c.*1031G>A | Leukocyte adhesion deficiency type II [RCV001106446] | uncertain significance | 11 | 45812366 | 45812366 | Human | 1 | name |
| 28906103 | CV868014 | single nucleotide variant | NM_018389.5(SLC35C1):c.*1127G>A | Leukocyte adhesion deficiency type II [RCV001106447] | uncertain significance | 11 | 45812462 | 45812462 | Human | 1 | name |
| 28909815 | CV868015 | single nucleotide variant | NM_018389.5(SLC35C1):c.*1229C>T | Leukocyte adhesion deficiency type II [RCV001108651] | uncertain significance | 11 | 45812564 | 45812564 | Human | 1 | name |
| 28899714 | CV868016 | single nucleotide variant | NM_018389.5(SLC35C1):c.*1419A>G | Leukocyte adhesion deficiency type II [RCV001103488] | uncertain significance | 11 | 45812754 | 45812754 | Human | 1 | name |
| 28899717 | CV868017 | single nucleotide variant | NM_018389.5(SLC35C1):c.*1543C>G | Leukocyte adhesion deficiency type II [RCV001103489] | uncertain significance | 11 | 45812878 | 45812878 | Human | 1 | name |
| 28899720 | CV868018 | single nucleotide variant | NM_018389.5(SLC35C1):c.*1582C>T | Leukocyte adhesion deficiency type II [RCV001103490] | uncertain significance | 11 | 45812917 | 45812917 | Human | 1 | name |
| 156383278 | CV2128208 | single nucleotide variant | NM_018389.5(SLC35C1):c.535+20A>G | Leukocyte adhesion deficiency type II [RCV002943307] | likely benign | 11 | 45806356 | 45806356 | Human | 1 | name |
| 156367537 | CV2177793 | single nucleotide variant | NM_018389.5(SLC35C1):c.536-16C>T | Leukocyte adhesion deficiency type II [RCV003049450] | likely benign | 11 | 45810760 | 45810760 | Human | 1 | name |
| 11552054 | CV254171 | single nucleotide variant | NM_018389.5(SLC35C1):c.536-32A>G | not provided [RCV001711573]|not specified [RCV000253872] | benign | 11 | 45810744 | 45810744 | Human | | name |
| 597901420 | CV3779100 | deletion | NM_018389.5(SLC35C1):c.535+11del | Leukocyte adhesion deficiency type II [RCV005127177] | likely benign | 11 | 45806347 | 45806347 | Human | 1 | name |
| 597866129 | CV3857753 | single nucleotide variant | NM_018389.5(SLC35C1):c.535+15G>A | Leukocyte adhesion deficiency type II [RCV005196700] | likely benign | 11 | 45806351 | 45806351 | Human | 1 | name |
| 15165479 | CV744497 | single nucleotide variant | NM_018389.5(SLC35C1):c.536-10C>G | Leukocyte adhesion deficiency type II [RCV001402366] | likely benign | 11 | 45810766 | 45810766 | Human | 1 | name |
| 150339025 | CV1167528 | single nucleotide variant | NM_018389.5(SLC35C1):c.536-295T>C | not provided [RCV001533991] | benign | 11 | 45810481 | 45810481 | Human | | name |
| 150422409 | CV1180827 | single nucleotide variant | NM_001145265.1(SLC35C1):c.-359A>T | not provided [RCV001552596] | likely benign | 11 | 45804190 | 45804190 | Human | | name |
| 150451109 | CV1272463 | single nucleotide variant | NM_001145265.1(SLC35C1):c.-154G>A | not provided [RCV001691944] | benign | 11 | 45804395 | 45804395 | Human | | name |
| 150478384 | CV1281938 | single nucleotide variant | NM_018389.5(SLC35C1):c.535+138G>A | not provided [RCV001714286] | benign | 11 | 45806474 | 45806474 | Human | | name |
| 152156137 | CV1585941 | microsatellite | NM_018389.5(SLC35C1):c.536-21CTC[2] | Leukocyte adhesion deficiency type II [RCV002140201] | likely benign | 11 | 45810755 | 45810757 | Human | | name |
| 11654668 | CV326701 | duplication | NM_018389.5(SLC35C1):c.-546_-540dup | Congenital disorder of glycosylation [RCV000319479] | uncertain significance | 11 | 45805249 | 45805250 | Human | 1 | name |
| 150478268 | CV1281900 | single nucleotide variant | NM_001145265.2(SLC35C1):c.-32+493A>G | not provided [RCV001714267] | benign | 11 | 45805010 | 45805010 | Human | | name |
| 405212640 | CV3169723 | single nucleotide variant | NM_018389.5(SLC35C1):c.12C>T (p.Ala4=) | Leukocyte adhesion deficiency type II [RCV003862322] | likely benign | 11 | 45805813 | 45805813 | Human | 1 | name |
| 156309637 | CV2163947 | single nucleotide variant | NM_018389.5(SLC35C1):c.60A>G (p.Ser20=) | Leukocyte adhesion deficiency type II [RCV003045957] | likely benign | 11 | 45805861 | 45805861 | Human | 1 | name |
| 405066492 | CV2949478 | single nucleotide variant | NM_018389.5(SLC35C1):c.66C>T (p.Pro22=) | Leukocyte adhesion deficiency type II [RCV003611841] | likely benign | 11 | 45805867 | 45805867 | Human | 1 | name |
| 405233009 | CV3167960 | single nucleotide variant | NM_018389.5(SLC35C1):c.84C>A (p.Ala28=) | Leukocyte adhesion deficiency type II [RCV003865628] | likely benign | 11 | 45805885 | 45805885 | Human | 1 | name |
| 15189992 | CV768456 | single nucleotide variant | NM_018389.5(SLC35C1):c.51C>T (p.Thr17=) | Leukocyte adhesion deficiency type II [RCV001106356] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 11 | 45805852 | 45805852 | Human | 1 | name |
| 15113830 | CV784002 | single nucleotide variant | NM_018389.5(SLC35C1):c.78A>G (p.Ala26=) | Leukocyte adhesion deficiency type II [RCV001466783] | likely benign | 11 | 45805879 | 45805879 | Human | 1 | name |
| 127308345 | CV1142286 | single nucleotide variant | NM_018389.5(SLC35C1):c.198C>T (p.Pro66=) | Leukocyte adhesion deficiency type II [RCV001500766] | likely benign | 11 | 45805999 | 45805999 | Human | 1 | name |
| 151762064 | CV1346688 | single nucleotide variant | NM_018389.5(SLC35C1):c.14C>T (p.Pro5Leu) | Leukocyte adhesion deficiency type II [RCV001970307] | uncertain significance | 11 | 45805815 | 45805815 | Human | 1 | name |
| 151845176 | CV1496610 | single nucleotide variant | NM_018389.5(SLC35C1):c.10G>A (p.Ala4Thr) | Leukocyte adhesion deficiency type II [RCV001922018] | uncertain significance | 11 | 45805811 | 45805811 | Human | 1 | name |
| 152027890 | CV1521096 | single nucleotide variant | NM_018389.5(SLC35C1):c.153C>G (p.Thr51=) | Leukocyte adhesion deficiency type II [RCV002085280] | likely benign | 11 | 45805954 | 45805954 | Human | 1 | name |
| 152132758 | CV1557309 | single nucleotide variant | NM_018389.5(SLC35C1):c.207G>A (p.Arg69=) | Leukocyte adhesion deficiency type II [RCV002137140]|not provided [RCV004706350] | likely benign | 11 | 45806008 | 45806008 | Human | 1 | name |
| 152150240 | CV1636163 | single nucleotide variant | NM_018389.5(SLC35C1):c.231C>G (p.Thr77=) | Leukocyte adhesion deficiency type II [RCV002102117] | likely benign | 11 | 45806032 | 45806032 | Human | 1 | name |
| 156362635 | CV1900707 | single nucleotide variant | NM_018389.5(SLC35C1):c.255G>A (p.Thr85=) | Leukocyte adhesion deficiency type II [RCV002581831] | likely benign | 11 | 45806056 | 45806056 | Human | 1 | name |
| 156084640 | CV1909168 | single nucleotide variant | NM_018389.5(SLC35C1):c.258G>A (p.Leu86=) | Leukocyte adhesion deficiency type II [RCV002591693] | likely benign | 11 | 45806059 | 45806059 | Human | 1 | name |
| 156176598 | CV1924278 | single nucleotide variant | NM_018389.5(SLC35C1):c.291C>T (p.Cys97=) | Leukocyte adhesion deficiency type II [RCV002624896] | likely benign | 11 | 45806092 | 45806092 | Human | 1 | name |
| 156444178 | CV1937704 | single nucleotide variant | NM_018389.5(SLC35C1):c.22C>T (p.Arg8Trp) | Leukocyte adhesion deficiency type II [RCV003115099] | uncertain significance | 11 | 45805823 | 45805823 | Human | 1 | name |
| 156281730 | CV2001428 | single nucleotide variant | NM_018389.5(SLC35C1):c.108G>A (p.Leu36=) | Leukocyte adhesion deficiency type II [RCV002646866] | likely benign | 11 | 45805909 | 45805909 | Human | 1 | name |
| 156139270 | CV2006531 | single nucleotide variant | NM_018389.5(SLC35C1):c.222C>A (p.Ile74=) | Leukocyte adhesion deficiency type II [RCV002663506] | likely benign | 11 | 45806023 | 45806023 | Human | 1 | name |
| 156147823 | CV2090961 | single nucleotide variant | NM_018389.5(SLC35C1):c.204G>A (p.Leu68=) | Leukocyte adhesion deficiency type II [RCV002890548] | likely benign | 11 | 45806005 | 45806005 | Human | 1 | name |
| 156183633 | CV2178526 | single nucleotide variant | NM_018389.5(SLC35C1):c.216C>T (p.Thr72=) | Leukocyte adhesion deficiency type II [RCV003057607] | likely benign | 11 | 45806017 | 45806017 | Human | 1 | name |
| 402467038 | CV2926871 | single nucleotide variant | NM_018389.5(SLC35C1):c.183C>T (p.Tyr61=) | Leukocyte adhesion deficiency type II [RCV003503438] | likely benign | 11 | 45805984 | 45805984 | Human | 1 | name |
| 405082496 | CV3001572 | single nucleotide variant | NM_018389.5(SLC35C1):c.150C>T (p.Val50=) | Leukocyte adhesion deficiency type II [RCV003613055] | likely benign | 11 | 45805951 | 45805951 | Human | 1 | name |
| 405058017 | CV3023430 | single nucleotide variant | NM_018389.5(SLC35C1):c.255G>T (p.Thr85=) | Leukocyte adhesion deficiency type II [RCV003611079] | likely benign | 11 | 45806056 | 45806056 | Human | 1 | name |
| 405061944 | CV3051267 | single nucleotide variant | NM_018389.5(SLC35C1):c.126G>C (p.Ala42=) | Leukocyte adhesion deficiency type II [RCV003611409] | likely benign | 11 | 45805927 | 45805927 | Human | 1 | name |
| 597897367 | CV3773906 | single nucleotide variant | NM_018389.5(SLC35C1):c.285C>A (p.Ala95=) | Leukocyte adhesion deficiency type II [RCV005111627] | likely benign | 11 | 45806086 | 45806086 | Human | 1 | name |
| 597935752 | CV3811390 | single nucleotide variant | NM_018389.5(SLC35C1):c.213C>T (p.Asp71=) | Leukocyte adhesion deficiency type II [RCV005157905] | likely benign | 11 | 45806014 | 45806014 | Human | 1 | name |
| 15105788 | CV784003 | single nucleotide variant | NM_018389.5(SLC35C1):c.123C>T (p.Ile41=) | Leukocyte adhesion deficiency type II [RCV001402015] | likely benign | 11 | 45805924 | 45805924 | Human | 1 | name |
| 26900359 | CV838439 | single nucleotide variant | NM_018389.5(SLC35C1):c.19A>G (p.Lys7Glu) | Leukocyte adhesion deficiency type II [RCV001050132] | uncertain significance | 11 | 45805820 | 45805820 | Human | 1 | name |
| 126757421 | CV1009688 | single nucleotide variant | NM_018389.5(SLC35C1):c.804G>T (p.Gly268=) | Leukocyte adhesion deficiency type II [RCV001317486] | likely benign|uncertain significance | 11 | 45811044 | 45811044 | Human | 1 | name |
| 8642816 | CV101800 | single nucleotide variant | NM_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 significance | 11 | 45810903 | 45810903 | Human | 1 | name , trait , alternate_id |
| 8642818 | CV101802 | single nucleotide variant | NM_018389.5(SLC35C1):c.91G>T (p.Glu31Ter) | Leukocyte adhesion deficiency type II [RCV000133550]|not provided [RCV000081954] | pathogenic | 11 | 45805892 | 45805892 | Human | 1 | name |
| 126919263 | CV1047231 | single nucleotide variant | NM_018389.5(SLC35C1):c.40A>G (p.Met14Val) | Leukocyte adhesion deficiency type II [RCV001362194] | uncertain significance | 11 | 45805841 | 45805841 | Human | 1 | name |
| 127233685 | CV1078242 | single nucleotide variant | NM_018389.5(SLC35C1):c.633C>G (p.Leu211=) | Leukocyte adhesion deficiency type II [RCV001396222] | likely benign | 11 | 45810873 | 45810873 | Human | 1 | name |
| 127236265 | CV1078243 | single nucleotide variant | NM_018389.5(SLC35C1):c.819C>T (p.Gly273=) | Leukocyte adhesion deficiency type II [RCV001414638] | likely benign | 11 | 45811059 | 45811059 | Human | 1 | name |
| 127259984 | CV1078244 | single nucleotide variant | NM_018389.5(SLC35C1):c.933C>T (p.Ala311=) | Leukocyte adhesion deficiency type II [RCV001402094] | likely benign | 11 | 45811173 | 45811173 | Human | 1 | name |
| 127271771 | CV1099939 | single nucleotide variant | NM_018389.5(SLC35C1):c.348C>T (p.Ser116=) | Leukocyte adhesion deficiency type II [RCV001441945] | likely benign | 11 | 45806149 | 45806149 | Human | 1 | name |
| 127279772 | CV1099940 | single nucleotide variant | NM_018389.5(SLC35C1):c.354G>A (p.Leu118=) | Leukocyte adhesion deficiency type II [RCV001445984] | likely benign | 11 | 45806155 | 45806155 | Human | 1 | name |
| 127241607 | CV1099941 | single nucleotide variant | NM_018389.5(SLC35C1):c.501C>T (p.Ser167=) | Leukocyte adhesion deficiency type II [RCV001423588] | likely benign | 11 | 45806302 | 45806302 | Human | 1 | name |
| 127233186 | CV1099942 | single nucleotide variant | NM_018389.5(SLC35C1):c.636C>T (p.Asn212=) | Leukocyte adhesion deficiency type II [RCV001421662] | likely benign | 11 | 45810876 | 45810876 | Human | 1 | name |
| 127337478 | CV1121410 | single nucleotide variant | NM_018389.5(SLC35C1):c.846C>T (p.Tyr282=) | Leukocyte adhesion deficiency type II [RCV001475697] | likely benign | 11 | 45811086 | 45811086 | Human | 1 | name |
| 127290629 | CV1121411 | single nucleotide variant | NM_018389.5(SLC35C1):c.933C>G (p.Ala311=) | Leukocyte adhesion deficiency type II [RCV001458491] | likely benign | 11 | 45811173 | 45811173 | Human | 1 | name |
| 127326366 | CV1142287 | single nucleotide variant | NM_018389.5(SLC35C1):c.858G>A (p.Leu286=) | Leukocyte adhesion deficiency type II [RCV001506269]|SLC35C1-related disorder [RCV003900751] | likely benign | 11 | 45811098 | 45811098 | Human | 1 | name , trait , alternate_id |
| 127299850 | CV1142288 | single nucleotide variant | NM_018389.5(SLC35C1):c.939C>T (p.Leu313=) | Leukocyte adhesion deficiency type II [RCV001498429] | likely benign | 11 | 45811179 | 45811179 | Human | 1 | name |
| 151788908 | CV1413110 | single nucleotide variant | NM_018389.5(SLC35C1):c.82G>A (p.Ala28Thr) | Leukocyte adhesion deficiency type II [RCV001989883] | uncertain significance | 11 | 45805883 | 45805883 | Human | 1 | name |
| 151791365 | CV1422713 | single nucleotide variant | NM_018389.5(SLC35C1):c.85A>C (p.Asn29His) | Leukocyte adhesion deficiency type II [RCV001916852] | uncertain significance | 11 | 45805886 | 45805886 | Human | 1 | name |
| 152166442 | CV1524361 | single nucleotide variant | NM_018389.5(SLC35C1):c.372C>T (p.Phe124=) | Leukocyte adhesion deficiency type II [RCV002141924]|not provided [RCV004706354] | likely benign | 11 | 45806173 | 45806173 | Human | 1 | name |
| 152125206 | CV1565527 | single nucleotide variant | NM_018389.5(SLC35C1):c.303C>T (p.Ala101=) | Leukocyte adhesion deficiency type II [RCV002136225] | likely benign | 11 | 45806104 | 45806104 | Human | 1 | name |
| 152035795 | CV1590485 | single nucleotide variant | NM_018389.5(SLC35C1):c.742C>T (p.Leu248=) | Leukocyte adhesion deficiency type II [RCV002205553] | likely benign | 11 | 45810982 | 45810982 | Human | 1 | name |
| 152051622 | CV1617107 | single nucleotide variant | NM_018389.5(SLC35C1):c.630G>A (p.Ser210=) | Leukocyte adhesion deficiency type II [RCV002072456]|SLC35C1-related disorder [RCV003968711] | likely benign | 11 | 45810870 | 45810870 | Human | 1 | name , trait , alternate_id |
| 152036739 | CV1617839 | single nucleotide variant | NM_018389.5(SLC35C1):c.672C>T (p.Asp224=) | Leukocyte adhesion deficiency type II [RCV002125459] | likely benign | 11 | 45810912 | 45810912 | Human | 1 | name |
| 152141504 | CV1625310 | single nucleotide variant | NM_018389.5(SLC35C1):c.924A>G (p.Thr308=) | Leukocyte adhesion deficiency type II [RCV002219434] | likely benign | 11 | 45811164 | 45811164 | Human | 1 | name |
| 152088558 | CV1638929 | single nucleotide variant | NM_018389.5(SLC35C1):c.495C>T (p.Thr165=) | Leukocyte adhesion deficiency type II [RCV002150283] | likely benign | 11 | 45806296 | 45806296 | Human | 1 | name |
| 152095300 | CV1661636 | single nucleotide variant | NM_018389.5(SLC35C1):c.408G>A (p.Lys136=) | Leukocyte adhesion deficiency type II [RCV002172368] | likely benign | 11 | 45806209 | 45806209 | Human | 1 | name |
| 156327708 | CV1880979 | single nucleotide variant | NM_018389.5(SLC35C1):c.705C>T (p.Asn235=) | Leukocyte adhesion deficiency type II [RCV003063504] | likely benign | 11 | 45810945 | 45810945 | Human | 1 | name |
| 156403927 | CV1886464 | single nucleotide variant | NM_018389.5(SLC35C1):c.945C>T (p.Tyr315=) | Leukocyte adhesion deficiency type II [RCV003069583] | likely benign | 11 | 45811185 | 45811185 | Human | 1 | name |
| 156048014 | CV1887604 | single nucleotide variant | NM_018389.5(SLC35C1):c.309C>T (p.Asp103=) | Leukocyte adhesion deficiency type II [RCV003078767] | likely benign | 11 | 45806110 | 45806110 | Human | 1 | name |
| 155954644 | CV1906996 | single nucleotide variant | NM_018389.5(SLC35C1):c.954C>G (p.Thr318=) | Leukocyte adhesion deficiency type II [RCV003095515] | likely benign | 11 | 45811194 | 45811194 | Human | 1 | name |
| 156359958 | CV1910807 | single nucleotide variant | NM_018389.5(SLC35C1):c.738C>G (p.Leu246=) | Leukocyte adhesion deficiency type II [RCV002632606] | likely benign | 11 | 45810978 | 45810978 | Human | 1 | name |
| 156415598 | CV1955344 | single nucleotide variant | NM_018389.5(SLC35C1):c.453C>T (p.Thr151=) | Leukocyte adhesion deficiency type II [RCV002589256] | likely benign | 11 | 45806254 | 45806254 | Human | 1 | name |
| 156341218 | CV1961738 | single nucleotide variant | NM_018389.5(SLC35C1):c.336G>A (p.Arg112=) | Leukocyte adhesion deficiency type II [RCV002580516]|SLC35C1-related disorder [RCV003973426] | likely benign | 11 | 45806137 | 45806137 | Human | 1 | name , trait , alternate_id |
| 156201732 | CV1978320 | single nucleotide variant | NM_018389.5(SLC35C1):c.603C>T (p.Phe201=) | Leukocyte adhesion deficiency type II [RCV002625749] | likely benign | 11 | 45810843 | 45810843 | Human | 1 | name |
| 156392458 | CV2005936 | single nucleotide variant | NM_018389.5(SLC35C1):c.411C>T (p.Tyr137=) | Leukocyte adhesion deficiency type II [RCV002680902] | likely benign | 11 | 45806212 | 45806212 | Human | 1 | name |
| 156008713 | CV2034849 | single nucleotide variant | NM_018389.5(SLC35C1):c.549T>C (p.Leu183=) | Leukocyte adhesion deficiency type II [RCV002780019] | likely benign | 11 | 45810789 | 45810789 | Human | 1 | name |
| 156018255 | CV2046810 | single nucleotide variant | NM_018389.5(SLC35C1):c.330C>T (p.Asp110=) | Leukocyte adhesion deficiency type II [RCV002780518] | likely benign | 11 | 45806131 | 45806131 | Human | 1 | name |
| 156283375 | CV2071328 | single nucleotide variant | NM_018389.5(SLC35C1):c.42G>A (p.Met14Ile) | Leukocyte adhesion deficiency type II [RCV002856466] | uncertain significance | 11 | 45805843 | 45805843 | Human | 1 | name |
| 156279954 | CV2074674 | single nucleotide variant | NM_018389.5(SLC35C1):c.580C>T (p.Leu194=) | Leukocyte adhesion deficiency type II [RCV002856347] | likely benign | 11 | 45810820 | 45810820 | Human | 1 | name |
| 156335054 | CV2109185 | single nucleotide variant | NM_018389.5(SLC35C1):c.360G>A (p.Leu120=) | Leukocyte adhesion deficiency type II [RCV002938582] | likely benign | 11 | 45806161 | 45806161 | Human | 1 | name |
| 402469957 | CV2888841 | single nucleotide variant | NM_018389.5(SLC35C1):c.345C>T (p.Arg115=) | Leukocyte adhesion deficiency type II [RCV003504263] | likely benign | 11 | 45806146 | 45806146 | Human | 1 | name |
| 405132066 | CV2896571 | single nucleotide variant | NM_018389.5(SLC35C1):c.357C>T (p.Pro119=) | Leukocyte adhesion deficiency type II [RCV003502246] | likely benign | 11 | 45806158 | 45806158 | Human | 1 | name |
| 405131594 | CV2900338 | single nucleotide variant | NM_018389.5(SLC35C1):c.651G>T (p.Thr217=) | Leukocyte adhesion deficiency type II [RCV003502196] | likely benign | 11 | 45810891 | 45810891 | Human | 1 | name |
| 405066794 | CV2960068 | single nucleotide variant | NM_018389.5(SLC35C1):c.759G>A (p.Gln253=) | Leukocyte adhesion deficiency type II [RCV003611864] | likely benign | 11 | 45810999 | 45810999 | Human | 1 | name |
| 405077199 | CV2964427 | single nucleotide variant | NM_018389.5(SLC35C1):c.58T>C (p.Ser20Pro) | Leukocyte adhesion deficiency type II [RCV003612586] | uncertain significance | 11 | 45805859 | 45805859 | Human | 1 | name |
| 405079428 | CV2984901 | single nucleotide variant | NM_018389.5(SLC35C1):c.978C>T (p.Ser326=) | Leukocyte adhesion deficiency type II [RCV003612781] | likely benign | 11 | 45811218 | 45811218 | Human | 1 | name |
| 405079788 | CV2985445 | single nucleotide variant | NM_018389.5(SLC35C1):c.861G>A (p.Gln287=) | Leukocyte adhesion deficiency type II [RCV003612814] | likely benign | 11 | 45811101 | 45811101 | Human | 1 | name |
| 405060525 | CV3042536 | single nucleotide variant | NM_018389.5(SLC35C1):c.73G>A (p.Glu25Lys) | Leukocyte adhesion deficiency type II [RCV003611285] | uncertain significance | 11 | 45805874 | 45805874 | Human | 1 | name |
| 405113194 | CV3118721 | single nucleotide variant | NM_018389.5(SLC35C1):c.447C>T (p.Leu149=) | Leukocyte adhesion deficiency type II [RCV003813949] | likely benign | 11 | 45806248 | 45806248 | Human | 1 | name |
| 405005379 | CV3120882 | single nucleotide variant | NM_018389.5(SLC35C1):c.363G>A (p.Ser121=) | Leukocyte adhesion deficiency type II [RCV003828485] | likely benign | 11 | 45806164 | 45806164 | Human | 1 | name |
| 405032124 | CV3130295 | single nucleotide variant | NM_018389.5(SLC35C1):c.567G>C (p.Gly189=) | Leukocyte adhesion deficiency type II [RCV003830702] | likely benign | 11 | 45810807 | 45810807 | Human | 1 | name |
| 405209149 | CV3145810 | single nucleotide variant | NM_018389.5(SLC35C1):c.885C>T (p.Thr295=) | Leukocyte adhesion deficiency type II [RCV003845540] | likely benign | 11 | 45811125 | 45811125 | Human | 1 | name |
| 404978785 | CV3175981 | single nucleotide variant | NM_018389.5(SLC35C1):c.744G>T (p.Leu248=) | Leukocyte adhesion deficiency type II [RCV003880081] | likely benign | 11 | 45810984 | 45810984 | Human | 1 | name |
| 11603862 | CV320679 | single nucleotide variant | NM_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 significance | 11 | 45806323 | 45806323 | Human | 1 | name |
| 11608716 | CV320680 | single nucleotide variant | NM_018389.5(SLC35C1):c.666G>A (p.Ala222=) | Leukocyte adhesion deficiency type II [RCV000796347] | conflicting interpretations of pathogenicity|uncertain significance | 11 | 45810906 | 45810906 | Human | 1 | name |
| 405271569 | CV3219078 | single nucleotide variant | NM_018389.5(SLC35C1):c.717C>T (p.Cys239=) | SLC35C1-related disorder [RCV003971788] | likely benign | 11 | 45810957 | 45810957 | Human | | name , trait , alternate_id |
| 11614753 | CV326725 | single nucleotide variant | NM_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 significance | 11 | 45805830 | 45805830 | Human | 2 | name |
| 11613657 | CV326747 | single nucleotide variant | NM_018389.5(SLC35C1):c.837C>T (p.Ala279=) | Leukocyte adhesion deficiency type II [RCV000270125]|not provided [RCV000658194] | conflicting interpretations of pathogenicity|uncertain significance | 11 | 45811077 | 45811077 | Human | 1 | name |
| 11618051 | CV327696 | single nucleotide variant | NM_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 significance | 11 | 45810987 | 45810987 | Human | 1 | name , trait , alternate_id |
| 597892716 | CV3743875 | single nucleotide variant | NM_018389.5(SLC35C1):c.996C>T (p.Gly332=) | Leukocyte adhesion deficiency type II [RCV005071345] | likely benign | 11 | 45811236 | 45811236 | Human | 1 | name |
| 597897345 | CV3744587 | single nucleotide variant | NM_018389.5(SLC35C1):c.366G>T (p.Val122=) | Leukocyte adhesion deficiency type II [RCV005071865] | likely benign | 11 | 45806167 | 45806167 | Human | 1 | name |
| 597904460 | CV3784661 | single nucleotide variant | NM_018389.5(SLC35C1):c.540C>T (p.Gly180=) | Leukocyte adhesion deficiency type II [RCV005127712] | likely benign | 11 | 45810780 | 45810780 | Human | 1 | name |
| 597942230 | CV3815569 | single nucleotide variant | NM_018389.5(SLC35C1):c.519C>G (p.Thr173=) | Leukocyte adhesion deficiency type II [RCV005159258] | likely benign | 11 | 45806320 | 45806320 | Human | 1 | name |
| 597831920 | CV3830859 | single nucleotide variant | NM_018389.5(SLC35C1):c.573A>G (p.Glu191=) | Leukocyte adhesion deficiency type II [RCV005170257] | likely benign | 11 | 45810813 | 45810813 | Human | 1 | name |
| 597890712 | CV3839785 | single nucleotide variant | NM_018389.5(SLC35C1):c.651G>A (p.Thr217=) | Leukocyte adhesion deficiency type II [RCV005179677] | likely benign | 11 | 45810891 | 45810891 | Human | 1 | name |
| 597872433 | CV3849497 | single nucleotide variant | NM_018389.5(SLC35C1):c.516C>T (p.Leu172=) | Leukocyte adhesion deficiency type II [RCV005197678] | likely benign | 11 | 45806317 | 45806317 | Human | 1 | name |
| 597937960 | CV3852253 | single nucleotide variant | NM_018389.5(SLC35C1):c.358C>T (p.Leu120=) | Leukocyte adhesion deficiency type II [RCV005186850] | likely benign | 11 | 45806159 | 45806159 | Human | 1 | name |
| 598242680 | CV3914777 | single nucleotide variant | NM_018389.5(SLC35C1):c.30G>T (p.Arg10Ser) | Inborn genetic diseases [RCV005276576] | uncertain significance | 11 | 45805831 | 45805831 | Human | 1 | name |
| 13495160 | CV461931 | single nucleotide variant | NM_018389.5(SLC35C1):c.312C>T (p.Phe104=) | Leukocyte adhesion deficiency type II [RCV000559428] | likely benign | 11 | 45806113 | 45806113 | Human | 1 | name |
| 13534518 | CV503805 | single nucleotide variant | NM_018389.5(SLC35C1):c.879G>A (p.Pro293=) | Leukocyte adhesion deficiency type II [RCV000904674]|not specified [RCV000607347] | likely benign | 11 | 45811119 | 45811119 | Human | 1 | name |
| 13620785 | CV526214 | single nucleotide variant | NM_018389.5(SLC35C1):c.975G>A (p.Thr325=) | Leukocyte adhesion deficiency type II [RCV002060732] | likely benign | 11 | 45811215 | 45811215 | Human | 1 | name |
| 13620789 | CV526216 | single nucleotide variant | NM_018389.5(SLC35C1):c.585G>A (p.Ser195=) | Leukocyte adhesion deficiency type II [RCV000636685] | likely benign | 11 | 45810825 | 45810825 | Human | 1 | name |
| 13620783 | CV526221 | single nucleotide variant | NM_018389.5(SLC35C1):c.903G>T (p.Thr301=) | Leukocyte adhesion deficiency type II [RCV000636680] | likely benign | 11 | 45811143 | 45811143 | Human | 1 | name |
| 13620861 | CV526406 | single nucleotide variant | NM_018389.5(SLC35C1):c.645C>T (p.Tyr215=) | Leukocyte adhesion deficiency type II [RCV000636678] | likely benign | 11 | 45810885 | 45810885 | Human | 1 | name |
| 13620778 | CV526699 | single nucleotide variant | NM_018389.5(SLC35C1):c.534C>T (p.Ile178=) | Leukocyte adhesion deficiency type II [RCV000636677] | uncertain significance | 11 | 45806335 | 45806335 | Human | 1 | name |
| 13620781 | CV526702 | single nucleotide variant | NM_018389.5(SLC35C1):c.840C>T (p.Ile280=) | Leukocyte adhesion deficiency type II [RCV000636679] | likely benign | 11 | 45811080 | 45811080 | Human | 1 | name |
| 13806665 | CV570667 | single nucleotide variant | NM_018389.5(SLC35C1):c.88G>A (p.Gly30Arg) | Inborn genetic diseases [RCV002544746]|Leukocyte adhesion deficiency type II [RCV000686350] | uncertain significance | 11 | 45805889 | 45805889 | Human | 2 | name |
| 14399055 | CV614359 | single nucleotide variant | NM_018389.5(SLC35C1):c.402C>T (p.Cys134=) | Leukocyte adhesion deficiency type II [RCV000768091] | conflicting interpretations of pathogenicity|uncertain significance | 11 | 45806203 | 45806203 | Human | 1 | name |
| 14709056 | CV640065 | single nucleotide variant | NM_018389.5(SLC35C1):c.903G>A (p.Thr301=) | Leukocyte adhesion deficiency type II [RCV000809232] | likely benign|uncertain significance | 11 | 45811143 | 45811143 | Human | 1 | name |
| 15190430 | CV737981 | single nucleotide variant | NM_018389.5(SLC35C1):c.597C>T (p.Thr199=) | Leukocyte adhesion deficiency type II [RCV001858566] | likely benign | 11 | 45810837 | 45810837 | Human | 1 | name |
| 15193786 | CV752673 | single nucleotide variant | NM_018389.5(SLC35C1):c.564G>A (p.Glu188=) | Leukocyte adhesion deficiency type II [RCV002542116] | likely benign | 11 | 45810804 | 45810804 | Human | 1 | name |
| 15102564 | CV784005 | single nucleotide variant | NM_018389.5(SLC35C1):c.711C>T (p.Asn237=) | Leukocyte adhesion deficiency type II [RCV001447100]|not provided [RCV003392714] | likely benign | 11 | 45810951 | 45810951 | Human | 1 | name |
| 28905949 | CV868008 | single nucleotide variant | NM_018389.5(SLC35C1):c.58T>G (p.Ser20Ala) | Leukocyte adhesion deficiency type II [RCV001106357] | uncertain significance | 11 | 45805859 | 45805859 | Human | 1 | name |
| 28909704 | CV868009 | single nucleotide variant | NM_018389.5(SLC35C1):c.738C>T (p.Leu246=) | Leukocyte adhesion deficiency type II [RCV001108568] | conflicting interpretations of pathogenicity|uncertain significance | 11 | 45810978 | 45810978 | Human | 1 | name |
| 38478411 | CV935548 | single nucleotide variant | NM_018389.5(SLC35C1):c.606C>T (p.Gly202=) | Leukocyte adhesion deficiency type II [RCV001205539] | likely benign|uncertain significance | 11 | 45810846 | 45810846 | Human | 1 | name |
| 38462845 | CV956500 | single nucleotide variant | NM_018389.5(SLC35C1):c.897G>A (p.Ser299=) | Leukocyte adhesion deficiency type II [RCV001247199] | likely benign|uncertain significance | 11 | 45811137 | 45811137 | Human | 1 | name |
| 126761096 | CV994518 | single nucleotide variant | NM_018389.5(SLC35C1):c.840C>A (p.Ile280=) | Leukocyte adhesion deficiency type II [RCV001309499] | likely benign|uncertain significance | 11 | 45811080 | 45811080 | Human | 1 | name |
| 126738941 | CV1017454 | single nucleotide variant | NM_018389.5(SLC35C1):c.184C>G (p.Leu62Val) | Leukocyte adhesion deficiency type II [RCV001329070] | uncertain significance | 11 | 45805985 | 45805985 | Human | 1 | name |
| 151884765 | CV1452749 | single nucleotide variant | NM_018389.5(SLC35C1):c.260T>C (p.Leu87Pro) | Leukocyte adhesion deficiency type II [RCV002037619] | uncertain significance | 11 | 45806061 | 45806061 | Human | 1 | name |
| 151892478 | CV1481174 | single nucleotide variant | NM_018389.5(SLC35C1):c.226G>C (p.Val76Leu) | Leukocyte adhesion deficiency type II [RCV001944154] | uncertain significance | 11 | 45806027 | 45806027 | Human | 1 | name |
| 151733479 | CV1512432 | single nucleotide variant | NM_018389.5(SLC35C1):c.139C>T (p.Leu47Phe) | Inborn genetic diseases [RCV004681411]|Leukocyte adhesion deficiency type II [RCV002021538] | uncertain significance | 11 | 45805940 | 45805940 | Human | 2 | name |
| 152148868 | CV1545287 | single nucleotide variant | NM_018389.5(SLC35C1):c.1080C>T (p.Ser360=) | Leukocyte adhesion deficiency type II [RCV002121463] | likely benign | 11 | 45811320 | 45811320 | Human | 1 | name |
| 152064799 | CV1583255 | single nucleotide variant | NM_018389.5(SLC35C1):c.1008C>T (p.Ala336=) | Leukocyte adhesion deficiency type II [RCV002110625] | likely benign | 11 | 45811248 | 45811248 | Human | 1 | name |
| 156415798 | CV1987545 | single nucleotide variant | NM_018389.5(SLC35C1):c.1005C>T (p.Ser335=) | Leukocyte adhesion deficiency type II [RCV002609840] | likely benign | 11 | 45811245 | 45811245 | Human | 1 | name |
| 156239685 | CV2028099 | single nucleotide variant | NM_018389.5(SLC35C1):c.286G>A (p.Ala96Thr) | Leukocyte adhesion deficiency type II [RCV002745619] | uncertain significance | 11 | 45806087 | 45806087 | Human | 1 | name |
| 156352306 | CV2065915 | single nucleotide variant | NM_018389.5(SLC35C1):c.271C>T (p.Leu91Phe) | Leukocyte adhesion deficiency type II [RCV002811874] | uncertain significance | 11 | 45806072 | 45806072 | Human | 1 | name |
| 156109564 | CV2121083 | single nucleotide variant | NM_018389.5(SLC35C1):c.209T>G (p.Leu70Arg) | Leukocyte adhesion deficiency type II [RCV002953054] | uncertain significance | 11 | 45806010 | 45806010 | Human | 1 | name |
| 401904274 | CV2816578 | single nucleotide variant | NM_018389.5(SLC35C1):c.1020C>T (p.Val340=) | not provided [RCV003394823] | likely benign | 11 | 45811260 | 45811260 | Human | | name |
| 11620268 | CV326729 | single nucleotide variant | NM_018389.5(SLC35C1):c.151A>G (p.Thr51Ala) | Inborn genetic diseases [RCV002522197]|Leukocyte adhesion deficiency type II [RCV000334681] | uncertain significance | 11 | 45805952 | 45805952 | Human | 2 | name |
| 11647315 | CV327697 | single nucleotide variant | NM_018389.5(SLC35C1):c.1062C>T (p.Pro354=) | Leukocyte adhesion deficiency type II [RCV000275882] | uncertain significance | 11 | 45811302 | 45811302 | Human | 1 | name |
| 12837575 | CV372383 | single nucleotide variant | NM_018389.5(SLC35C1):c.1032G>A (p.Glu344=) | not specified [RCV000425409] | likely benign | 11 | 45811272 | 45811272 | Human | | name |
| 12836394 | CV372386 | single nucleotide variant | NM_018389.5(SLC35C1):c.1047G>A (p.Pro349=) | Leukocyte adhesion deficiency type II [RCV000636684]|not provided [RCV003392251]|not specified [RCV000423319] | benign|likely benign | 11 | 45811287 | 45811287 | Human | 1 | name |
| 597921388 | CV3777350 | single nucleotide variant | NM_018389.5(SLC35C1):c.1002C>A (p.Ser334=) | Leukocyte adhesion deficiency type II [RCV005130279] | likely benign | 11 | 45811242 | 45811242 | Human | 1 | name |
| 13620776 | CV526399 | single nucleotide variant | NM_018389.5(SLC35C1):c.116T>C (p.Leu39Ser) | Inborn genetic diseases [RCV002529853]|Leukocyte adhesion deficiency type II [RCV000636676] | uncertain significance | 11 | 45805917 | 45805917 | Human | 2 | name |
| 13620775 | CV526404 | single nucleotide variant | NM_018389.5(SLC35C1):c.120G>T (p.Gln40His) | Leukocyte adhesion deficiency type II [RCV000636675] | uncertain significance | 11 | 45805921 | 45805921 | Human | 1 | name |
| 15130004 | CV737980 | single nucleotide variant | NM_018389.5(SLC35C1):c.226G>A (p.Val76Ile) | Inborn genetic diseases [RCV002540158]|Leukocyte adhesion deficiency type II [RCV001106358] | benign|conflicting interpretations of pathogenicity|uncertain significance | 11 | 45806027 | 45806027 | Human | 2 | name |
| 15163118 | CV752674 | single nucleotide variant | NM_018389.5(SLC35C1):c.1038G>A (p.Lys346=) | not provided [RCV000926048] | likely benign | 11 | 45811278 | 45811278 | Human | | name |
| 15146434 | CV784004 | single nucleotide variant | NM_018389.5(SLC35C1):c.130G>A (p.Val44Met) | Leukocyte adhesion deficiency type II [RCV000983854] | likely benign | 11 | 45805931 | 45805931 | Human | 1 | name |
| 26903040 | CV838440 | single nucleotide variant | NM_018389.5(SLC35C1):c.192C>G (p.Asp64Glu) | Leukocyte adhesion deficiency type II [RCV001067142] | uncertain significance | 11 | 45805993 | 45805993 | Human | 1 | name |
| 26903403 | CV838441 | single nucleotide variant | NM_018389.5(SLC35C1):c.200C>T (p.Ser67Phe) | Inborn genetic diseases [RCV002554576]|Leukocyte adhesion deficiency type II [RCV001069373] | uncertain significance | 11 | 45806001 | 45806001 | Human | 2 | name |
| 26899796 | CV838442 | single nucleotide variant | NM_018389.5(SLC35C1):c.254C>T (p.Thr85Met) | Leukocyte adhesion deficiency type II [RCV001046850]|not provided [RCV004590052] | uncertain significance | 11 | 45806055 | 45806055 | Human | 1 | name |
| 26898556 | CV838444 | deletion | NM_018389.5(SLC35C1):c.367del (p.Val123fs) | Leukocyte adhesion deficiency type II [RCV001038135] | pathogenic | 11 | 45806167 | 45806167 | Human | 1 | name |
| 38484842 | CV926247 | single nucleotide variant | NM_018389.5(SLC35C1):c.163A>G (p.Met55Val) | Leukocyte adhesion deficiency type II [RCV001219599] | uncertain significance | 11 | 45805964 | 45805964 | Human | 1 | name |
| 38477078 | CV935546 | single nucleotide variant | NM_018389.5(SLC35C1):c.120G>C (p.Gln40His) | Inborn genetic diseases [RCV005278756]|Leukocyte adhesion deficiency type II [RCV001204930] | uncertain significance | 11 | 45805921 | 45805921 | Human | 2 | name |
| 38459594 | CV935547 | single nucleotide variant | NM_018389.5(SLC35C1):c.220A>G (p.Ile74Val) | Inborn genetic diseases [RCV004963205]|Leukocyte adhesion deficiency type II [RCV001211667] | uncertain significance | 11 | 45806021 | 45806021 | Human | 2 | name |
| 126773634 | CV1009687 | single nucleotide variant | NM_018389.5(SLC35C1):c.607G>A (p.Val203Met) | Leukocyte adhesion deficiency type II [RCV001324445] | uncertain significance | 11 | 45810847 | 45810847 | Human | 1 | name |
| 126741706 | CV1009689 | single nucleotide variant | NM_018389.5(SLC35C1):c.866A>G (p.Lys289Arg) | Leukocyte adhesion deficiency type II [RCV001325380] | uncertain significance | 11 | 45811106 | 45811106 | Human | 1 | name |
| 126738948 | CV1017455 | single nucleotide variant | NM_018389.5(SLC35C1):c.969G>C (p.Trp323Cys) | Leukocyte adhesion deficiency type II [RCV001329071] | uncertain significance | 11 | 45811209 | 45811209 | Human | 1 | name |
| 8642817 | CV101801 | single nucleotide variant | NM_018389.5(SLC35C1):c.718A>G (p.Ile240Val) | Leukocyte adhesion deficiency type II [RCV000398854]|not provided [RCV004717952]|not specified [RCV000081953] | benign|likely benign | 11 | 45810958 | 45810958 | Human | 1 | name |
| 126736083 | CV1020869 | single nucleotide variant | NM_018389.5(SLC35C1):c.997G>A (p.Gly333Ser) | Leukocyte adhesion deficiency type II [RCV001334998] | uncertain significance | 11 | 45811237 | 45811237 | Human | 1 | name |
| 126728546 | CV1030250 | single nucleotide variant | NM_018389.5(SLC35C1):c.323G>C (p.Arg108Pro) | Leukocyte adhesion deficiency type II [RCV001348947] | uncertain significance | 11 | 45806124 | 45806124 | Human | 1 | name |
| 126751194 | CV1030251 | single nucleotide variant | NM_018389.5(SLC35C1):c.662C>T (p.Pro221Leu) | Leukocyte adhesion deficiency type II [RCV001352391] | uncertain significance | 11 | 45810902 | 45810902 | Human | 1 | name |
| 127296198 | CV1162246 | single nucleotide variant | NM_018389.5(SLC35C1):c.891T>A (p.Asn297Lys) | Leukocyte adhesion deficiency type II [RCV001527370] | pathogenic | 11 | 45811131 | 45811131 | Human | 1 | name |
| 150339240 | CV1174758 | single nucleotide variant | NM_018389.5(SLC35C1):c.887A>G (p.His296Arg) | Leukocyte adhesion deficiency type II [RCV001543359] | likely pathogenic | 11 | 45811127 | 45811127 | Human | 1 | name |
| 151661874 | CV1330078 | single nucleotide variant | NM_018389.5(SLC35C1):c.841G>A (p.Gly281Ser) | Leukocyte adhesion deficiency type II [RCV001823489] | uncertain significance | 11 | 45811081 | 45811081 | Human | 1 | name |
| 151842909 | CV1339142 | single nucleotide variant | NM_018389.5(SLC35C1):c.410A>C (p.Tyr137Ser) | Leukocyte adhesion deficiency type II [RCV001977917] | uncertain significance | 11 | 45806211 | 45806211 | Human | 1 | name |
| 151824994 | CV1351056 | single nucleotide variant | NM_018389.5(SLC35C1):c.956A>C (p.Lys319Thr) | Leukocyte adhesion deficiency type II [RCV001919934] | uncertain significance | 11 | 45811196 | 45811196 | Human | 1 | name |
| 151723373 | CV1358200 | single nucleotide variant | NM_018389.5(SLC35C1):c.433G>A (p.Val145Met) | Inborn genetic diseases [RCV002556382]|Leukocyte adhesion deficiency type II [RCV001945220] | uncertain significance | 11 | 45806234 | 45806234 | Human | 2 | name |
| 151724201 | CV1369717 | single nucleotide variant | NM_018389.5(SLC35C1):c.776C>T (p.Ala259Val) | Leukocyte adhesion deficiency type II [RCV001945313] | uncertain significance | 11 | 45811016 | 45811016 | Human | 1 | name |
| 151798640 | CV1373663 | single nucleotide variant | NM_018389.5(SLC35C1):c.706G>A (p.Val236Ile) | Inborn genetic diseases [RCV005271459]|Leukocyte adhesion deficiency type II [RCV001917506] | uncertain significance | 11 | 45810946 | 45810946 | Human | 2 | name |
| 151883238 | CV1384132 | single nucleotide variant | NM_018389.5(SLC35C1):c.820G>A (p.Gly274Ser) | Leukocyte adhesion deficiency type II [RCV001886895] | uncertain significance | 11 | 45811060 | 45811060 | Human | 1 | name |
| 151834943 | CV1394319 | single nucleotide variant | NM_018389.5(SLC35C1):c.535G>A (p.Gly179Arg) | Leukocyte adhesion deficiency type II [RCV002051103] | uncertain significance | 11 | 45806336 | 45806336 | Human | 1 | name |
| 151833507 | CV1396355 | deletion | NM_018389.5(SLC35C1):c.1021del (p.Arg341fs) | Leukocyte adhesion deficiency type II [RCV001902043] | uncertain significance | 11 | 45811261 | 45811261 | Human | 1 | name |
| 151835746 | CV1397931 | single nucleotide variant | NM_018389.5(SLC35C1):c.769G>T (p.Asp257Tyr) | Leukocyte adhesion deficiency type II [RCV001977121] | uncertain significance | 11 | 45811009 | 45811009 | Human | 1 | name |
| 151825516 | CV1404225 | single nucleotide variant | NM_018389.5(SLC35C1):c.640A>G (p.Ile214Val) | Leukocyte adhesion deficiency type II [RCV001976146] | uncertain significance | 11 | 45810880 | 45810880 | Human | 1 | name |
| 151788139 | CV1419735 | single nucleotide variant | NM_018389.5(SLC35C1):c.656T>C (p.Val219Ala) | Leukocyte adhesion deficiency type II [RCV001951772] | uncertain significance | 11 | 45810896 | 45810896 | Human | 1 | name |
| 151749367 | CV1431150 | single nucleotide variant | NM_018389.5(SLC35C1):c.674G>A (p.Gly225Asp) | Leukocyte adhesion deficiency type II [RCV001912822] | uncertain significance | 11 | 45810914 | 45810914 | Human | 1 | name |
| 151748421 | CV1442293 | single nucleotide variant | NM_018389.5(SLC35C1):c.877C>A (p.Pro293Thr) | Leukocyte adhesion deficiency type II [RCV002043009] | uncertain significance | 11 | 45811117 | 45811117 | Human | 1 | name |
| 151793064 | CV1447037 | single nucleotide variant | NM_018389.5(SLC35C1):c.330C>G (p.Asp110Glu) | Leukocyte adhesion deficiency type II [RCV001876691] | uncertain significance | 11 | 45806131 | 45806131 | Human | 1 | name |
| 151840826 | CV1462647 | single nucleotide variant | NM_018389.5(SLC35C1):c.934G>A (p.Val312Met) | Leukocyte adhesion deficiency type II [RCV002015311] | uncertain significance | 11 | 45811174 | 45811174 | Human | 1 | name |
| 151805486 | CV1482053 | single nucleotide variant | NM_018389.5(SLC35C1):c.778C>T (p.Gln260Ter) | Leukocyte adhesion deficiency type II [RCV002048367] | pathogenic|likely pathogenic | 11 | 45811018 | 45811018 | Human | 1 | name |
| 151853522 | CV1514668 | single nucleotide variant | NM_018389.5(SLC35C1):c.407A>G (p.Lys136Arg) | Leukocyte adhesion deficiency type II [RCV001979251] | uncertain significance | 11 | 45806208 | 45806208 | Human | 1 | name |
| 153348681 | CV1692725 | single nucleotide variant | NM_018389.5(SLC35C1):c.478C>G (p.Leu160Val) | not provided [RCV002274581] | uncertain significance | 11 | 45806279 | 45806279 | Human | | name |
| 9686850 | CV171504 | single nucleotide variant | NM_018389.5(SLC35C1):c.556G>A (p.Asp186Asn) | Prostate cancer [RCV000149068] | uncertain significance | 11 | 45810796 | 45810796 | Human | 2 | name |
| 155743429 | CV1777510 | single nucleotide variant | NM_018389.5(SLC35C1):c.340G>C (p.Ala114Pro) | Leukocyte adhesion deficiency type II [RCV002302999] | uncertain significance | 11 | 45806141 | 45806141 | Human | 1 | name |
| 156217256 | CV1910713 | single nucleotide variant | NM_018389.5(SLC35C1):c.506A>G (p.Tyr169Cys) | Leukocyte adhesion deficiency type II [RCV002596319] | uncertain significance | 11 | 45806307 | 45806307 | Human | 1 | name |
| 8558256 | CV19778 | single nucleotide variant | NM_018389.5(SLC35C1):c.439C>T (p.Arg147Cys) | Leukocyte adhesion deficiency type II [RCV000005005] | pathogenic|likely pathogenic | 11 | 45806240 | 45806240 | Human | 1 | name |
| 8558257 | CV19779 | single nucleotide variant | NM_018389.5(SLC35C1):c.923C>G (p.Thr308Arg) | Leukocyte adhesion deficiency type II [RCV000005006] | pathogenic | 11 | 45811163 | 45811163 | Human | 1 | name |
| 156364525 | CV2003468 | single nucleotide variant | NM_018389.5(SLC35C1):c.344G>A (p.Arg115His) | Leukocyte adhesion deficiency type II [RCV002676467] | uncertain significance | 11 | 45806145 | 45806145 | Human | 1 | name |
| 156152643 | CV2049160 | single nucleotide variant | NM_018389.5(SLC35C1):c.836C>G (p.Ala279Gly) | Leukocyte adhesion deficiency type II [RCV002801342] | uncertain significance | 11 | 45811076 | 45811076 | Human | 1 | name |
| 156328877 | CV2050506 | single nucleotide variant | NM_018389.5(SLC35C1):c.751G>A (p.Glu251Lys) | Leukocyte adhesion deficiency type II [RCV002810562] | uncertain significance | 11 | 45810991 | 45810991 | Human | 1 | name |
| 156295012 | CV2073433 | single nucleotide variant | NM_018389.5(SLC35C1):c.622T>C (p.Cys208Arg) | Leukocyte adhesion deficiency type II [RCV002833359] | uncertain significance | 11 | 45810862 | 45810862 | Human | 1 | name |
| 156167144 | CV2102264 | single nucleotide variant | NM_018389.5(SLC35C1):c.916G>T (p.Ala306Ser) | Leukocyte adhesion deficiency type II [RCV002891209] | uncertain significance | 11 | 45811156 | 45811156 | Human | 1 | name |
| 10405692 | CV213609 | single nucleotide variant | NM_018389.5(SLC35C1):c.872C>T (p.Thr291Ile) | Leukocyte adhesion deficiency type II [RCV000197101] | likely pathogenic|conflicting interpretations of pathogenicity | 11 | 45811112 | 45811112 | Human | 1 | name |
| 156108326 | CV2140021 | single nucleotide variant | NM_018389.5(SLC35C1):c.854G>T (p.Gly285Val) | Leukocyte adhesion deficiency type II [RCV003002487] | uncertain significance | 11 | 45811094 | 45811094 | Human | 1 | name |
| 155936778 | CV2150008 | single nucleotide variant | NM_018389.5(SLC35C1):c.381G>T (p.Met127Ile) | Leukocyte adhesion deficiency type II [RCV003013995] | uncertain significance | 11 | 45806182 | 45806182 | Human | 1 | name |
| 156334412 | CV2191634 | single nucleotide variant | NM_018389.5(SLC35C1):c.595A>G (p.Thr199Ala) | Leukocyte adhesion deficiency type II [RCV003063880] | uncertain significance | 11 | 45810835 | 45810835 | Human | 1 | name |
| 156366058 | CV2192313 | single nucleotide variant | NM_018389.5(SLC35C1):c.593G>C (p.Gly198Ala) | Leukocyte adhesion deficiency type II [RCV003065959] | uncertain significance | 11 | 45810833 | 45810833 | Human | 1 | name |
| 156131644 | CV2279979 | single nucleotide variant | NM_018389.5(SLC35C1):c.325C>G (p.Leu109Val) | Inborn genetic diseases [RCV002849734] | uncertain significance | 11 | 45806126 | 45806126 | Human | 1 | name |
| 156357166 | CV2318249 | single nucleotide variant | NM_018389.5(SLC35C1):c.461A>C (p.Asn154Thr) | Inborn genetic diseases [RCV002940789] | uncertain significance | 11 | 45806262 | 45806262 | Human | 1 | name |
| 156448667 | CV2402076 | single nucleotide variant | NM_018389.5(SLC35C1):c.847G>A (p.Val283Met) | Leukocyte adhesion deficiency type II [RCV003120235] | uncertain significance | 11 | 45811087 | 45811087 | Human | 1 | name |
| 401886052 | CV2771589 | single nucleotide variant | NM_018389.5(SLC35C1):c.775G>A (p.Ala259Thr) | Inborn genetic diseases [RCV003366734] | uncertain significance | 11 | 45811015 | 45811015 | Human | 1 | name |
| 405077084 | CV2967762 | single nucleotide variant | NM_018389.5(SLC35C1):c.737T>A (p.Leu246His) | Leukocyte adhesion deficiency type II [RCV003612577] | uncertain significance | 11 | 45810977 | 45810977 | Human | 1 | name |
| 405075208 | CV3072223 | single nucleotide variant | NM_018389.5(SLC35C1):c.791C>T (p.Ala264Val) | Leukocyte adhesion deficiency type II [RCV003612471] | uncertain significance | 11 | 45811031 | 45811031 | Human | 1 | name |
| 11622787 | CV326743 | single nucleotide variant | NM_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 significance | 11 | 45810988 | 45810988 | Human | 2 | name |
| 11663793 | CV327692 | single nucleotide variant | NM_018389.5(SLC35C1):c.440G>A (p.Arg147His) | Leukocyte adhesion deficiency type II [RCV000399632] | uncertain significance | 11 | 45806241 | 45806241 | Human | 1 | name |
| 405784413 | CV3332717 | single nucleotide variant | NM_018389.5(SLC35C1):c.603C>G (p.Phe201Leu) | Inborn genetic diseases [RCV004459235] | uncertain significance | 11 | 45810843 | 45810843 | Human | 1 | name |
| 407487243 | CV3484418 | single nucleotide variant | NM_018389.5(SLC35C1):c.349G>A (p.Val117Ile) | Inborn genetic diseases [RCV004672586] | uncertain significance | 11 | 45806150 | 45806150 | Human | 1 | name |
| 408366928 | CV3508039 | single nucleotide variant | NM_018389.5(SLC35C1):c.907A>G (p.Lys303Glu) | SLC35C1-related disorder [RCV004757653] | uncertain significance | 11 | 45811147 | 45811147 | Human | | name , trait , alternate_id |
| 408395065 | CV3522335 | single nucleotide variant | NM_018389.5(SLC35C1):c.641T>C (p.Ile214Thr) | Leukocyte adhesion deficiency type II [RCV004765412] | uncertain significance | 11 | 45810881 | 45810881 | Human | 1 | name |
| 12847886 | CV371423 | single nucleotide variant | NM_018389.5(SLC35C1):c.476A>G (p.Tyr159Cys) | not provided [RCV000444284] | uncertain significance | 11 | 45806277 | 45806277 | Human | | name |
| 597924899 | CV3778044 | single nucleotide variant | NM_018389.5(SLC35C1):c.313C>G (p.Pro105Ala) | Leukocyte adhesion deficiency type II [RCV005130768] | uncertain significance | 11 | 45806114 | 45806114 | Human | 1 | name |
| 13493127 | CV461331 | single nucleotide variant | NM_018389.5(SLC35C1):c.672C>G (p.Asp224Glu) | Leukocyte adhesion deficiency type II [RCV000535457] | uncertain significance | 11 | 45810912 | 45810912 | Human | 1 | name |
| 13520731 | CV495481 | single nucleotide variant | NM_018389.5(SLC35C1):c.942C>G (p.Tyr314Ter) | Leukocyte adhesion deficiency type II [RCV003611523]|not provided [RCV000598876] | pathogenic|likely pathogenic | 11 | 45811182 | 45811182 | Human | 1 | name |
| 13620787 | CV526219 | single nucleotide variant | NM_018389.5(SLC35C1):c.598G>A (p.Val200Ile) | Inborn genetic diseases [RCV002528886]|Leukocyte adhesion deficiency type II [RCV000636682]|not provided [RCV001356757] | likely benign|uncertain significance | 11 | 45810838 | 45810838 | Human | 2 | name |
| 13809287 | CV564634 | single nucleotide variant | NM_018389.5(SLC35C1):c.679A>G (p.Ile227Val) | Leukocyte adhesion deficiency type II [RCV000702059] | uncertain significance | 11 | 45810919 | 45810919 | Human | 1 | name |
| 13816119 | CV565791 | single nucleotide variant | NM_018389.5(SLC35C1):c.356C>A (p.Pro119His) | Leukocyte adhesion deficiency type II [RCV000692109] | uncertain significance | 11 | 45806157 | 45806157 | Human | 1 | name |
| 14730332 | CV640059 | single nucleotide variant | NM_018389.5(SLC35C1):c.712G>A (p.Ala238Thr) | Leukocyte adhesion deficiency type II [RCV000800907] | uncertain significance | 11 | 45810952 | 45810952 | Human | 1 | name |
| 14735968 | CV640060 | single nucleotide variant | NM_018389.5(SLC35C1):c.754C>G (p.Leu252Val) | Leukocyte adhesion deficiency type II [RCV000803409] | uncertain significance | 11 | 45810994 | 45810994 | Human | 1 | name |
| 14740413 | CV640061 | single nucleotide variant | NM_018389.5(SLC35C1):c.766C>T (p.Arg256Cys) | Inborn genetic diseases [RCV005278677]|Leukocyte adhesion deficiency type II [RCV000821789] | uncertain significance | 11 | 45811006 | 45811006 | Human | 2 | name |
| 14723530 | CV640062 | single nucleotide variant | NM_018389.5(SLC35C1):c.767G>A (p.Arg256His) | Inborn genetic diseases [RCV002538192]|Leukocyte adhesion deficiency type II [RCV000814387] | likely benign|uncertain significance | 11 | 45811007 | 45811007 | Human | 2 | name |
| 14743978 | CV640063 | single nucleotide variant | NM_018389.5(SLC35C1):c.878C>T (p.Pro293Leu) | Leukocyte adhesion deficiency type II [RCV000823793] | uncertain significance | 11 | 45811118 | 45811118 | Human | 1 | name |
| 14737140 | CV640064 | single nucleotide variant | NM_018389.5(SLC35C1):c.890A>G (p.Asn297Ser) | Inborn genetic diseases [RCV004028158]|Leukocyte adhesion deficiency type II [RCV000803906] | uncertain significance | 11 | 45811130 | 45811130 | Human | 2 | name |
| 15173916 | CV789126 | single nucleotide variant | NM_018389.5(SLC35C1):c.842G>A (p.Gly281Asp) | Leukocyte adhesion deficiency type II [RCV000984510] | uncertain significance | 11 | 45811082 | 45811082 | Human | 1 | name |
| 26899431 | CV838443 | single nucleotide variant | NM_018389.5(SLC35C1):c.323G>T (p.Arg108Leu) | Leukocyte adhesion deficiency type II [RCV001044176] | uncertain significance | 11 | 45806124 | 45806124 | Human | 1 | name |
| 26899292 | CV838445 | single nucleotide variant | NM_018389.5(SLC35C1):c.412G>A (p.Val138Ile) | Leukocyte adhesion deficiency type II [RCV001043425] | uncertain significance | 11 | 45806213 | 45806213 | Human | 1 | name |
| 26903443 | CV838446 | single nucleotide variant | NM_018389.5(SLC35C1):c.718A>C (p.Ile240Leu) | Leukocyte adhesion deficiency type II [RCV001069656] | uncertain significance | 11 | 45810958 | 45810958 | Human | 1 | name |
| 26899197 | CV838447 | single nucleotide variant | NM_018389.5(SLC35C1):c.854G>A (p.Gly285Glu) | Leukocyte adhesion deficiency type II [RCV001042656] | uncertain significance | 11 | 45811094 | 45811094 | Human | 1 | name |
| 26900805 | CV838448 | single nucleotide variant | NM_018389.5(SLC35C1):c.896C>T (p.Ser299Leu) | Leukocyte adhesion deficiency type II [RCV001054025] | uncertain significance | 11 | 45811136 | 45811136 | Human | 1 | name |
| 28909706 | CV868010 | single nucleotide variant | NM_018389.5(SLC35C1):c.812C>T (p.Thr271Met) | Inborn genetic diseases [RCV002555059]|Leukocyte adhesion deficiency type II [RCV001108569] | uncertain significance | 11 | 45811052 | 45811052 | Human | 2 | name |
| 38477438 | CV926248 | single nucleotide variant | NM_018389.5(SLC35C1):c.482T>C (p.Leu161Pro) | Leukocyte adhesion deficiency type II [RCV001216139] | uncertain significance | 11 | 45806283 | 45806283 | Human | 1 | name |
| 38479051 | CV926249 | single nucleotide variant | NM_018389.5(SLC35C1):c.983T>G (p.Met328Arg) | Leukocyte adhesion deficiency type II [RCV001216894] | uncertain significance | 11 | 45811223 | 45811223 | Human | 1 | name |
| 38489328 | CV935549 | single nucleotide variant | NM_018389.5(SLC35C1):c.902C>T (p.Thr301Met) | Leukocyte adhesion deficiency type II [RCV001210159] | uncertain significance | 11 | 45811142 | 45811142 | Human | 1 | name |
| 38471356 | CV935550 | single nucleotide variant | NM_018389.5(SLC35C1):c.974C>T (p.Thr325Met) | Leukocyte adhesion deficiency type II [RCV001213756] | uncertain significance | 11 | 45811214 | 45811214 | Human | 1 | name |
| 38483735 | CV947459 | single nucleotide variant | NM_018389.5(SLC35C1):c.650C>T (p.Thr217Met) | Inborn genetic diseases [RCV005278779]|Leukocyte adhesion deficiency type II [RCV001236046] | uncertain significance | 11 | 45810890 | 45810890 | Human | 2 | name |
| 38476212 | CV947460 | single nucleotide variant | NM_018389.5(SLC35C1):c.673G>A (p.Gly225Ser) | Leukocyte adhesion deficiency type II [RCV001232974] | uncertain significance | 11 | 45810913 | 45810913 | Human | 1 | name |
| 38475287 | CV947461 | single nucleotide variant | NM_018389.5(SLC35C1):c.998G>C (p.Gly333Ala) | Leukocyte adhesion deficiency type II [RCV001232561] | uncertain significance | 11 | 45811238 | 45811238 | Human | 1 | name |
| 38462876 | CV956497 | single nucleotide variant | NM_018389.5(SLC35C1):c.307G>T (p.Asp103Tyr) | Leukocyte adhesion deficiency type II [RCV001246949] | uncertain significance | 11 | 45806108 | 45806108 | Human | 1 | name |
| 38492572 | CV956498 | single nucleotide variant | NM_018389.5(SLC35C1):c.375C>G (p.Ile125Met) | Leukocyte adhesion deficiency type II [RCV001240162] | uncertain significance | 11 | 45806176 | 45806176 | Human | 1 | name |
| 38499297 | CV956499 | single nucleotide variant | NM_018389.5(SLC35C1):c.377G>A (p.Gly126Asp) | Leukocyte adhesion deficiency type II [RCV001244446] | uncertain significance | 11 | 45806178 | 45806178 | Human | 1 | name |
| 126762868 | CV994519 | single nucleotide variant | NM_018389.5(SLC35C1):c.983T>C (p.Met328Thr) | Leukocyte adhesion deficiency type II [RCV001300519] | uncertain significance | 11 | 45811223 | 45811223 | Human | 1 | name |
| 151879721 | CV1411111 | single nucleotide variant | NM_018389.5(SLC35C1):c.1018G>A (p.Val340Ile) | Leukocyte adhesion deficiency type II [RCV002019978] | uncertain significance | 11 | 45811258 | 45811258 | Human | 1 | name |
| 151780272 | CV1446232 | single nucleotide variant | NM_018389.5(SLC35C1):c.1085T>C (p.Met362Thr) | Leukocyte adhesion deficiency type II [RCV001989066] | uncertain significance | 11 | 45811325 | 45811325 | Human | 1 | name |
| 151736696 | CV1461876 | single nucleotide variant | NM_018389.5(SLC35C1):c.1046C>T (p.Pro349Leu) | Leukocyte adhesion deficiency type II [RCV001967706] | uncertain significance | 11 | 45811286 | 45811286 | Human | 1 | name |
| 151777691 | CV1466575 | single nucleotide variant | NM_018389.5(SLC35C1):c.1053G>T (p.Glu351Asp) | Leukocyte adhesion deficiency type II [RCV001896944]|not provided [RCV004591625] | uncertain significance | 11 | 45811293 | 45811293 | Human | 1 | name |
| 152999874 | CV1683421 | single nucleotide variant | NM_018389.5(SLC35C1):c.1088G>A (p.Gly363Glu) | See cases [RCV002252605] | uncertain significance | 11 | 45811328 | 45811328 | Human | | name |
| 156128247 | CV2012558 | single nucleotide variant | NM_018389.5(SLC35C1):c.1004C>T (p.Ser335Phe) | Leukocyte adhesion deficiency type II [RCV002696302] | uncertain significance | 11 | 45811244 | 45811244 | Human | 1 | name |
| 156276668 | CV2015077 | single nucleotide variant | NM_018389.5(SLC35C1):c.1079G>A (p.Ser360Asn) | Leukocyte adhesion deficiency type II [RCV002715161] | uncertain significance | 11 | 45811319 | 45811319 | Human | 1 | name |
| 11525689 | CV247057 | single nucleotide variant | NM_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 significance | 11 | 45811294 | 45811294 | Human | 1 | name , trait , alternate_id |
| 11605863 | CV320682 | single nucleotide variant | NM_018389.5(SLC35C1):c.1013C>T (p.Thr338Ile) | Leukocyte adhesion deficiency type II [RCV000324924] | uncertain significance | 11 | 45811253 | 45811253 | Human | 1 | name |
| 407488738 | CV3484417 | single nucleotide variant | NM_018389.5(SLC35C1):c.1035G>A (p.Met345Ile) | Inborn genetic diseases [RCV004683691] | uncertain significance | 11 | 45811275 | 45811275 | Human | 1 | name |
| 407487247 | CV3484419 | single nucleotide variant | NM_018389.5(SLC35C1):c.1084A>C (p.Met362Leu) | Inborn genetic diseases [RCV004672587] | uncertain significance | 11 | 45811324 | 45811324 | Human | 1 | name |
| 12837161 | CV372164 | single nucleotide variant | NM_018389.5(SLC35C1):c.1055C>A (p.Pro352His) | Inborn genetic diseases [RCV004668972]|Leukocyte adhesion deficiency type II [RCV000763740]|not provided [RCV000424691] | uncertain significance | 11 | 45811295 | 45811295 | Human | 2 | name |
| 597881418 | CV3857467 | single nucleotide variant | NM_018389.5(SLC35C1):c.1043C>A (p.Thr348Asn) | Leukocyte adhesion deficiency type II [RCV005199084] | uncertain significance | 11 | 45811283 | 45811283 | Human | 1 | name |
| 598242667 | CV3914775 | single nucleotide variant | NM_018389.5(SLC35C1):c.1061C>G (p.Pro354Arg) | Inborn genetic diseases [RCV005276574] | uncertain significance | 11 | 45811301 | 45811301 | Human | 1 | name |
| 13528898 | CV513601 | single nucleotide variant | NM_018389.5(SLC35C1):c.1001C>A (p.Ser334Tyr) | Leukocyte adhesion deficiency type II [RCV000626150] | likely pathogenic|uncertain significance | 11 | 45811241 | 45811241 | Human | 1 | name |
| 14733302 | CV640066 | single nucleotide variant | NM_018389.5(SLC35C1):c.1025G>T (p.Gly342Val) | Leukocyte adhesion deficiency type II [RCV000802239] | uncertain significance | 11 | 45811265 | 45811265 | Human | 1 | name |
| 14715671 | CV640067 | single nucleotide variant | NM_018389.5(SLC35C1):c.1031A>G (p.Glu344Gly) | Inborn genetic diseases [RCV002538093]|Leukocyte adhesion deficiency type II [RCV000811294] | uncertain significance | 11 | 45811271 | 45811271 | Human | 2 | name |
| 14722518 | CV640068 | single nucleotide variant | NM_018389.5(SLC35C1):c.1081G>A (p.Ala361Thr) | Inborn genetic diseases [RCV004669135]|Leukocyte adhesion deficiency type II [RCV000813933] | uncertain significance | 11 | 45811321 | 45811321 | Human | 2 | name |
| 126762989 | CV994520 | single nucleotide variant | NM_018389.5(SLC35C1):c.1090G>T (p.Val364Leu) | Leukocyte adhesion deficiency type II [RCV001310051] | uncertain significance | 11 | 45811330 | 45811330 | Human | 1 | name |
| 151737040 | CV1354941 | microsatellite | NM_018389.5(SLC35C1):c.940TAC[1] (p.Tyr315del) | Leukocyte adhesion deficiency type II [RCV001892875] | uncertain significance | 11 | 45811179 | 45811181 | Human | | name |
| 151864741 | CV1346770 | inversion | NM_018389.5(SLC35C1):c.717_718inv (p.Ile240Val) | Leukocyte adhesion deficiency type II [RCV001959682] | likely benign | 11 | 45810957 | 45810958 | Human | | name |
| 9481119 | CV153781 | deletion | NM_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 significance | 11 | 45806302 | 45806304 | Human | 1 | name , trait , alternate_id |
| 329351353 | CV2476489 | deletion | NM_018389.5(SLC35C1):c.1021_1022del (p.Arg341fs) | not provided [RCV003222721] | uncertain significance | 11 | 45811261 | 45811262 | Human | | name |
| 151820392 | CV1390803 | microsatellite | NM_018389.5(SLC35C1):c.465GCT[3] (p.Leu157_Ser158insLeu) | Leukocyte adhesion deficiency type II [RCV001992713] | uncertain significance | 11 | 45806264 | 45806265 | Human | | name |