ClinVar for MedGen (Select 96022) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24286341.	NM_018389.5(SLC35C1):c.847G>A (p.Val283Met) GRCh37: Chr11:45832638 GRCh38: Chr11:45811087	SLC35C1	V270M, V283M	Leukocyte adhesion deficiency type II	Uncertain significance (Oct 21, 2022)	criteria provided, single submitter
Select item 24264672.	NC_000011.9:g.(?_45827353)_(47804770_?)del GRCh37: Chr11:45827353-47804770	MADD, ZNF408, MAPK8IP1, MDK, MTCH2, PEX16, MADD-AS1, SPI1, ACP2, AGBL2, AMBRA1, ARFGAP2, ARHGAP1, ATG13, C1QTNF4, CELF1, CHRM4, CKAP5, CREB3L1, CRY2, CSTPP1, DDB2, DGKZ, F2, FAM180B, FNBP4, FREY1, HARBI1, KBTBD4, LARGE2, LRP4, MYBPC3, NDUFS3, NR1H3, NUP160, PACSIN3, PHF21A, PSMC3, PTPMT1, RAPSN, SLC35C1, SLC39A13		Leukocyte adhesion deficiency type II	Pathogenic (Mar 15, 2022)	criteria provided, single submitter
Select item 24176303.	NM_018389.5(SLC35C1):c.22C>T (p.Arg8Trp) GRCh37: Chr11:45827374 GRCh38: Chr11:45805823	SLC35C1	R8W	Leukocyte adhesion deficiency type II	Uncertain significance (Jun 11, 2022)	criteria provided, single submitter
Select item 21994324.	NM_018389.5(SLC35C1):c.291C>T (p.Cys97=) GRCh37: Chr11:45827643 GRCh38: Chr11:45806092	SLC35C1		Leukocyte adhesion deficiency type II	Likely benign (Sep 10, 2022)	criteria provided, single submitter
Select item 21858735.	NM_018389.5(SLC35C1):c.738C>G (p.Leu246=) GRCh37: Chr11:45832529 GRCh38: Chr11:45810978	SLC35C1		Leukocyte adhesion deficiency type II	Likely benign (Oct 3, 2022)	criteria provided, single submitter
Select item 21857796.	NM_018389.5(SLC35C1):c.506A>G (p.Tyr169Cys) GRCh37: Chr11:45827858 GRCh38: Chr11:45806307	SLC35C1	Y156C, Y169C	Leukocyte adhesion deficiency type II	Uncertain significance (May 16, 2022)	criteria provided, single submitter
Select item 21790567.	NM_018389.5(SLC35C1):c.258G>A (p.Leu86=) GRCh37: Chr11:45827610 GRCh38: Chr11:45806059	SLC35C1		Leukocyte adhesion deficiency type II	Likely benign (Jul 26, 2022)	criteria provided, single submitter
Select item 21732768.	NM_018389.5(SLC35C1):c.255G>A (p.Thr85=) GRCh37: Chr11:45827607 GRCh38: Chr11:45806056	SLC35C1		Leukocyte adhesion deficiency type II	Likely benign (Jul 4, 2022)	criteria provided, single submitter
Select item 21704669.	NM_018389.5(SLC35C1):c.954C>G (p.Thr318=) GRCh37: Chr11:45832745 GRCh38: Chr11:45811194	SLC35C1		Leukocyte adhesion deficiency type II	Likely benign (Jan 15, 2022)	criteria provided, single submitter
Select item 216182510.	NM_018389.5(SLC35C1):c.309C>T (p.Asp103=) GRCh37: Chr11:45827661 GRCh38: Chr11:45806110	SLC35C1		Leukocyte adhesion deficiency type II	Likely benign (Jul 31, 2022)	criteria provided, single submitter
Select item 215808711.	NM_018389.5(SLC35C1):c.945C>T (p.Tyr315=) GRCh37: Chr11:45832736 GRCh38: Chr11:45811185	SLC35C1		Leukocyte adhesion deficiency type II	Likely benign (Jan 28, 2022)	criteria provided, single submitter
Select item 214865112.	NM_018389.5(SLC35C1):c.705C>T (p.Asn235=) GRCh37: Chr11:45832496 GRCh38: Chr11:45810945	SLC35C1		Leukocyte adhesion deficiency type II	Likely benign (Oct 17, 2022)	criteria provided, single submitter
Select item 213475613.	NM_018389.5(SLC35C1):c.593G>C (p.Gly198Ala) GRCh37: Chr11:45832384 GRCh38: Chr11:45810833	SLC35C1	G198A, G185A	Leukocyte adhesion deficiency type II	Uncertain significance (May 6, 2022)	criteria provided, single submitter
Select item 213279514.	NM_018389.5(SLC35C1):c.595A>G (p.Thr199Ala) GRCh37: Chr11:45832386 GRCh38: Chr11:45810835	SLC35C1	T186A, T199A	Leukocyte adhesion deficiency type II	Uncertain significance (May 3, 2022)	criteria provided, single submitter
Select item 212850315.	NM_018389.5(SLC35C1):c.216C>T (p.Thr72=) GRCh37: Chr11:45827568 GRCh38: Chr11:45806017	SLC35C1		Leukocyte adhesion deficiency type II	Likely benign (Apr 20, 2022)	criteria provided, single submitter
Select item 212519216.	NM_018389.5(SLC35C1):c.536-16C>T GRCh37: Chr11:45832311 GRCh38: Chr11:45810760	SLC35C1		Leukocyte adhesion deficiency type II	Likely benign (Apr 12, 2022)	criteria provided, single submitter
Select item 211137217.	NM_018389.5(SLC35C1):c.60A>G (p.Ser20=) GRCh37: Chr11:45827412 GRCh38: Chr11:45805861	SLC35C1		Leukocyte adhesion deficiency type II	Likely benign (May 27, 2022)	criteria provided, single submitter
Select item 209609118.	NM_018389.5(SLC35C1):c.381G>T (p.Met127Ile) GRCh37: Chr11:45827733 GRCh38: Chr11:45806182	SLC35C1	M114I, M127I	Leukocyte adhesion deficiency type II	Uncertain significance (Feb 10, 2022)	criteria provided, single submitter
Select item 208338119.	NM_018389.5(SLC35C1):c.854G>T (p.Gly285Val) GRCh37: Chr11:45832645 GRCh38: Chr11:45811094	SLC35C1	G272V, G285V	Leukocyte adhesion deficiency type II	Uncertain significance (Mar 26, 2022)	criteria provided, single submitter
Select item 206422420.	NM_018389.5(SLC35C1):c.535+20A>G GRCh37: Chr11:45827907 GRCh38: Chr11:45806356	SLC35C1		Leukocyte adhesion deficiency type II	Likely benign (Sep 22, 2022)	criteria provided, single submitter
Select item 206193521.	NM_018389.5(SLC35C1):c.209T>G (p.Leu70Arg) GRCh37: Chr11:45827561 GRCh38: Chr11:45806010	SLC35C1	L70R, L57R	Leukocyte adhesion deficiency type II	Uncertain significance (Oct 5, 2022)	criteria provided, single submitter
Select item 205648222.	NM_018389.5(SLC35C1):c.360G>A (p.Leu120=) GRCh37: Chr11:45827712 GRCh38: Chr11:45806161	SLC35C1		Leukocyte adhesion deficiency type II	Likely benign (Oct 24, 2022)	criteria provided, single submitter
Select item 204179223.	NM_018389.5(SLC35C1):c.916G>T (p.Ala306Ser) GRCh37: Chr11:45832707 GRCh38: Chr11:45811156	SLC35C1	A293S, A306S	Leukocyte adhesion deficiency type II	Uncertain significance (Aug 19, 2022)	criteria provided, single submitter
Select item 203820224.	NM_018389.5(SLC35C1):c.204G>A (p.Leu68=) GRCh37: Chr11:45827556 GRCh38: Chr11:45806005	SLC35C1		Leukocyte adhesion deficiency type II	Likely benign (Dec 8, 2021)	criteria provided, single submitter
Select item 201339125.	NM_018389.5(SLC35C1):c.42G>A (p.Met14Ile) GRCh37: Chr11:45827394 GRCh38: Chr11:45805843	SLC35C1	M1I, M14I	Leukocyte adhesion deficiency type II	Uncertain significance (Jul 3, 2022)	criteria provided, single submitter
Select item 201288526.	NM_018389.5(SLC35C1):c.580C>T (p.Leu194=) GRCh37: Chr11:45832371 GRCh38: Chr11:45810820	SLC35C1		Leukocyte adhesion deficiency type II	Likely benign (Jul 1, 2022)	criteria provided, single submitter
Select item 200777227.	NM_018389.5(SLC35C1):c.622T>C (p.Cys208Arg) GRCh37: Chr11:45832413 GRCh38: Chr11:45810862	SLC35C1	C195R, C208R	Leukocyte adhesion deficiency type II	Uncertain significance (Jun 26, 2022)	criteria provided, single submitter
Select item 200668028.	NM_018389.5(SLC35C1):c.271C>T (p.Leu91Phe) GRCh37: Chr11:45827623 GRCh38: Chr11:45806072	SLC35C1	L78F, L91F	Leukocyte adhesion deficiency type II	Uncertain significance (Jun 14, 2022)	criteria provided, single submitter
Select item 199858529.	NM_018389.5(SLC35C1):c.751G>A (p.Glu251Lys) GRCh37: Chr11:45832542 GRCh38: Chr11:45810991	SLC35C1	E238K, E251K	Leukocyte adhesion deficiency type II	Uncertain significance (May 25, 2022)	criteria provided, single submitter
Select item 199337330.	NM_018389.5(SLC35C1):c.836C>G (p.Ala279Gly) GRCh37: Chr11:45832627 GRCh38: Chr11:45811076	SLC35C1	A279G, A266G	Leukocyte adhesion deficiency type II	Uncertain significance (May 12, 2022)	criteria provided, single submitter
Select item 198505731.	NM_018389.5(SLC35C1):c.330C>T (p.Asp110=) GRCh37: Chr11:45827682 GRCh38: Chr11:45806131	SLC35C1		Leukocyte adhesion deficiency type II	Likely benign (Aug 7, 2022)	criteria provided, single submitter
Select item 197947032.	NM_018389.5(SLC35C1):c.549T>C (p.Leu183=) GRCh37: Chr11:45832340 GRCh38: Chr11:45810789	SLC35C1		Leukocyte adhesion deficiency type II	Likely benign (Jan 11, 2022)	criteria provided, single submitter
Select item 196680233.	NM_018389.5(SLC35C1):c.286G>A (p.Ala96Thr) GRCh37: Chr11:45827638 GRCh38: Chr11:45806087	SLC35C1	A83T, A96T	Leukocyte adhesion deficiency type II	Uncertain significance (Aug 23, 2022)	criteria provided, single submitter
Select item 195888134.	NM_018389.5(SLC35C1):c.1004C>T (p.Ser335Phe) GRCh37: Chr11:45832795 GRCh38: Chr11:45811244	SLC35C1	S335F, S322F	Leukocyte adhesion deficiency type II	Uncertain significance (Oct 25, 2022)	criteria provided, single submitter
Select item 195493535.	NM_018389.5(SLC35C1):c.1079G>A (p.Ser360Asn) GRCh37: Chr11:45832870 GRCh38: Chr11:45811319	SLC35C1	S347N, S360N	Leukocyte adhesion deficiency type II	Uncertain significance (Aug 7, 2022)	criteria provided, single submitter
Select item 194976736.	NM_018389.5(SLC35C1):c.344G>A (p.Arg115His) GRCh37: Chr11:45827696 GRCh38: Chr11:45806145	SLC35C1	R115H, R102H	Leukocyte adhesion deficiency type II	Uncertain significance (Aug 16, 2022)	criteria provided, single submitter
Select item 194767537.	NM_018389.5(SLC35C1):c.222C>A (p.Ile74=) GRCh37: Chr11:45827574 GRCh38: Chr11:45806023	SLC35C1		Leukocyte adhesion deficiency type II	Likely benign (Jul 6, 2022)	criteria provided, single submitter
Select item 194578738.	NM_018389.5(SLC35C1):c.411C>T (p.Tyr137=) GRCh37: Chr11:45827763 GRCh38: Chr11:45806212	SLC35C1		Leukocyte adhesion deficiency type II	Likely benign (Mar 4, 2022)	criteria provided, single submitter
Select item 194256739.	NM_018389.5(SLC35C1):c.108G>A (p.Leu36=) GRCh37: Chr11:45827460 GRCh38: Chr11:45805909	SLC35C1		Leukocyte adhesion deficiency type II	Likely benign (Sep 17, 2022)	criteria provided, single submitter
Select item 192736440.	NM_018389.5(SLC35C1):c.1005C>T (p.Ser335=) GRCh37: Chr11:45832796 GRCh38: Chr11:45811245	SLC35C1		Leukocyte adhesion deficiency type II	Likely benign (Sep 10, 2022)	criteria provided, single submitter
Select item 191810941.	NM_018389.5(SLC35C1):c.603C>T (p.Phe201=) GRCh37: Chr11:45832394 GRCh38: Chr11:45810843	SLC35C1		Leukocyte adhesion deficiency type II	Likely benign (Jan 7, 2022)	criteria provided, single submitter
Select item 190719842.	NM_018389.5(SLC35C1):c.453C>T (p.Thr151=) GRCh37: Chr11:45827805 GRCh38: Chr11:45806254	SLC35C1		Leukocyte adhesion deficiency type II	Likely benign (Sep 23, 2022)	criteria provided, single submitter
Select item 190495943.	NM_018389.5(SLC35C1):c.336G>A (p.Arg112=) GRCh37: Chr11:45827688 GRCh38: Chr11:45806137	SLC35C1		Leukocyte adhesion deficiency type II	Likely benign (Feb 14, 2022)	criteria provided, single submitter
Select item 171361544.	NM_018389.5(SLC35C1):c.340G>C (p.Ala114Pro) GRCh37: Chr11:45827692 GRCh38: Chr11:45806141	SLC35C1	A101P, A114P	Leukocyte adhesion deficiency type II	Uncertain significance (Jul 23, 2022)	criteria provided, single submitter
Select item 164592345.	NM_018389.5(SLC35C1):c.303C>T (p.Ala101=) GRCh37: Chr11:45827655 GRCh38: Chr11:45806104	SLC35C1		Leukocyte adhesion deficiency type II	Likely benign (Sep 23, 2021)	criteria provided, single submitter
Select item 164154346.	NM_018389.5(SLC35C1):c.536-21CTC[2] GRCh37: Chr11:45832306-45832308 GRCh38: Chr11:45810755-45810757	SLC35C1		Leukocyte adhesion deficiency type II	Likely benign (Jul 19, 2022)	criteria provided, single submitter
Select item 163289347.	NM_018389.5(SLC35C1):c.1080C>T (p.Ser360=) GRCh37: Chr11:45832871 GRCh38: Chr11:45811320	SLC35C1		Leukocyte adhesion deficiency type II	Likely benign (Dec 6, 2021)	criteria provided, single submitter
Select item 162924948.	NM_018389.5(SLC35C1):c.672C>T (p.Asp224=) GRCh37: Chr11:45832463 GRCh38: Chr11:45810912	SLC35C1		Leukocyte adhesion deficiency type II	Likely benign (Apr 11, 2022)	criteria provided, single submitter
Select item 162625049.	NM_018389.5(SLC35C1):c.1008C>T (p.Ala336=) GRCh37: Chr11:45832799 GRCh38: Chr11:45811248	SLC35C1		Leukocyte adhesion deficiency type II	Likely benign (Aug 4, 2021)	criteria provided, single submitter
Select item 160941650.	NM_018389.5(SLC35C1):c.495C>T (p.Thr165=) GRCh37: Chr11:45827847 GRCh38: Chr11:45806296	SLC35C1		Leukocyte adhesion deficiency type II	Likely benign (Oct 10, 2021)	criteria provided, single submitter
Select item 160328751.	NM_018389.5(SLC35C1):c.372C>T (p.Phe124=) GRCh37: Chr11:45827724 GRCh38: Chr11:45806173	SLC35C1		Leukocyte adhesion deficiency type II	Likely benign (Jul 30, 2022)	criteria provided, single submitter
Select item 160235152.	NM_018389.5(SLC35C1):c.207G>A (p.Arg69=) GRCh37: Chr11:45827559 GRCh38: Chr11:45806008	SLC35C1		Leukocyte adhesion deficiency type II	Likely benign (Jan 4, 2021)	criteria provided, single submitter
Select item 157623453.	NM_018389.5(SLC35C1):c.153C>G (p.Thr51=) GRCh37: Chr11:45827505 GRCh38: Chr11:45805954	SLC35C1		Leukocyte adhesion deficiency type II	Likely benign (Jul 11, 2022)	criteria provided, single submitter
Select item 157198754.	NM_018389.5(SLC35C1):c.924A>G (p.Thr308=) GRCh37: Chr11:45832715 GRCh38: Chr11:45811164	SLC35C1		Leukocyte adhesion deficiency type II	Likely benign (Sep 12, 2022)	criteria provided, single submitter
Select item 156589655.	NM_018389.5(SLC35C1):c.742C>T (p.Leu248=) GRCh37: Chr11:45832533 GRCh38: Chr11:45810982	SLC35C1		Leukocyte adhesion deficiency type II	Likely benign (Aug 15, 2022)	criteria provided, single submitter
Select item 154114256.	NM_018389.5(SLC35C1):c.408G>A (p.Lys136=) GRCh37: Chr11:45827760 GRCh38: Chr11:45806209	SLC35C1		Leukocyte adhesion deficiency type II	Likely benign (Jul 5, 2022)	criteria provided, single submitter
Select item 153459157.	NM_018389.5(SLC35C1):c.630G>A (p.Ser210=) GRCh37: Chr11:45832421 GRCh38: Chr11:45810870	SLC35C1		Leukocyte adhesion deficiency type II	Likely benign (Mar 26, 2022)	criteria provided, single submitter
Select item 153255258.	NM_018389.5(SLC35C1):c.231C>G (p.Thr77=) GRCh37: Chr11:45827583 GRCh38: Chr11:45806032	SLC35C1		Leukocyte adhesion deficiency type II	Likely benign (Apr 25, 2022)	criteria provided, single submitter
Select item 151816159.	NM_018389.5(SLC35C1):c.139C>T (p.Leu47Phe) GRCh37: Chr11:45827491 GRCh38: Chr11:45805940	SLC35C1	L47F, L34F	Leukocyte adhesion deficiency type II	Uncertain significance (Oct 17, 2022)	criteria provided, single submitter
Select item 151486460.	NM_018389.5(SLC35C1):c.778C>T (p.Gln260Ter) GRCh37: Chr11:45832569 GRCh38: Chr11:45811018	SLC35C1	Q260, Q247	Leukocyte adhesion deficiency type II	Likely pathogenic (Sep 1, 2021)	criteria provided, single submitter
Select item 151023861.	NM_018389.5(SLC35C1):c.877C>A (p.Pro293Thr) GRCh37: Chr11:45832668 GRCh38: Chr11:45811117	SLC35C1	P293T, P280T	Leukocyte adhesion deficiency type II	Uncertain significance (Oct 24, 2022)	criteria provided, single submitter
Select item 150189362.	NM_018389.5(SLC35C1):c.1018G>A (p.Val340Ile) GRCh37: Chr11:45832809 GRCh38: Chr11:45811258	SLC35C1	V327I, V340I	Leukocyte adhesion deficiency type II	Uncertain significance (Mar 13, 2022)	criteria provided, single submitter
Select item 149559863.	NM_018389.5(SLC35C1):c.934G>A (p.Val312Met) GRCh37: Chr11:45832725 GRCh38: Chr11:45811174	SLC35C1	V299M, V312M	Leukocyte adhesion deficiency type II	Uncertain significance (Aug 15, 2022)	criteria provided, single submitter
Select item 149200164.	NM_018389.5(SLC35C1):c.1085T>C (p.Met362Thr) GRCh37: Chr11:45832876 GRCh38: Chr11:45811325	SLC35C1	M362T, M349T	Leukocyte adhesion deficiency type II	Uncertain significance (Jun 20, 2022)	criteria provided, single submitter
Select item 147636965.	NM_018389.5(SLC35C1):c.410A>C (p.Tyr137Ser) GRCh37: Chr11:45827762 GRCh38: Chr11:45806211	SLC35C1	Y137S, Y124S	Leukocyte adhesion deficiency type II	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 147531666.	NM_018389.5(SLC35C1):c.640A>G (p.Ile214Val) GRCh37: Chr11:45832431 GRCh38: Chr11:45810880	SLC35C1	I201V, I214V	Leukocyte adhesion deficiency type II	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 147254967.	NM_018389.5(SLC35C1):c.769G>T (p.Asp257Tyr) GRCh37: Chr11:45832560 GRCh38: Chr11:45811009	SLC35C1	D257Y, D244Y	Leukocyte adhesion deficiency type II	Uncertain significance (Oct 12, 2021)	criteria provided, single submitter
Select item 146714368.	NM_018389.5(SLC35C1):c.717_718inv (p.Ile240Val) GRCh37: Chr11:45832508-45832509 GRCh38: Chr11:45810957-45810958	SLC35C1	I240V, I227V	Leukocyte adhesion deficiency type II	Likely benign (Oct 4, 2022)	criteria provided, single submitter
Select item 146706169.	NM_018389.5(SLC35C1):c.14C>T (p.Pro5Leu) GRCh37: Chr11:45827366 GRCh38: Chr11:45805815	SLC35C1	P5L	Leukocyte adhesion deficiency type II	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 146495770.	NM_018389.5(SLC35C1):c.407A>G (p.Lys136Arg) GRCh37: Chr11:45827759 GRCh38: Chr11:45806208	SLC35C1	K136R, K123R	Leukocyte adhesion deficiency type II	Uncertain significance (Aug 25, 2021)	criteria provided, single submitter
Select item 146092671.	NM_018389.5(SLC35C1):c.656T>C (p.Val219Ala) GRCh37: Chr11:45832447 GRCh38: Chr11:45810896	SLC35C1	V206A, V219A	Leukocyte adhesion deficiency type II	Uncertain significance (Aug 28, 2021)	criteria provided, single submitter
Select item 144992872.	NM_018389.5(SLC35C1):c.82G>A (p.Ala28Thr) GRCh37: Chr11:45827434 GRCh38: Chr11:45805883	SLC35C1	A15T, A28T	Leukocyte adhesion deficiency type II	Uncertain significance (Jun 13, 2022)	criteria provided, single submitter
Select item 144597273.	NM_018389.5(SLC35C1):c.465GCT[3] (p.Leu157dup) GRCh37: Chr11:45827815-45827816 GRCh38: Chr11:45806264-45806265	SLC35C1		Leukocyte adhesion deficiency type II	Uncertain significance (Aug 30, 2021)	criteria provided, single submitter
Select item 144059174.	NM_018389.5(SLC35C1):c.1046C>T (p.Pro349Leu) GRCh37: Chr11:45832837 GRCh38: Chr11:45811286	SLC35C1	P349L, P336L	Leukocyte adhesion deficiency type II	Uncertain significance (Sep 26, 2022)	criteria provided, single submitter
Select item 143291975.	NM_018389.5(SLC35C1):c.226G>C (p.Val76Leu) GRCh37: Chr11:45827578 GRCh38: Chr11:45806027	SLC35C1	V63L, V76L	Leukocyte adhesion deficiency type II	Uncertain significance (Oct 20, 2021)	criteria provided, single submitter
Select item 142129776.	NM_018389.5(SLC35C1):c.85A>C (p.Asn29His) GRCh37: Chr11:45827437 GRCh38: Chr11:45805886	SLC35C1	N16H, N29H	Leukocyte adhesion deficiency type II	Uncertain significance (Oct 2, 2021)	criteria provided, single submitter
Select item 141451377.	NM_018389.5(SLC35C1):c.776C>T (p.Ala259Val) GRCh37: Chr11:45832567 GRCh38: Chr11:45811016	SLC35C1	A259V, A246V	Leukocyte adhesion deficiency type II	Uncertain significance (Aug 24, 2021)	criteria provided, single submitter
Select item 141417778.	NM_018389.5(SLC35C1):c.433G>A (p.Val145Met) GRCh37: Chr11:45827785 GRCh38: Chr11:45806234	SLC35C1	V132M, V145M	Leukocyte adhesion deficiency type II, Inborn genetic diseases	Uncertain significance (Feb 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 140244879.	NM_018389.5(SLC35C1):c.1053G>T (p.Glu351Asp) GRCh37: Chr11:45832844 GRCh38: Chr11:45811293	SLC35C1	E338D, E351D	Leukocyte adhesion deficiency type II	Uncertain significance (Aug 15, 2022)	criteria provided, single submitter
Select item 139822180.	NM_018389.5(SLC35C1):c.674G>A (p.Gly225Asp) GRCh37: Chr11:45832465 GRCh38: Chr11:45810914	SLC35C1	G212D, G225D	Leukocyte adhesion deficiency type II	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 139627781.	NM_018389.5(SLC35C1):c.956A>C (p.Lys319Thr) GRCh37: Chr11:45832747 GRCh38: Chr11:45811196	SLC35C1	K306T, K319T	Leukocyte adhesion deficiency type II	Uncertain significance (Jul 25, 2022)	criteria provided, single submitter
Select item 139006482.	NM_018389.5(SLC35C1):c.706G>A (p.Val236Ile) GRCh37: Chr11:45832497 GRCh38: Chr11:45810946	SLC35C1	V223I, V236I	Leukocyte adhesion deficiency type II	Uncertain significance (Sep 17, 2021)	criteria provided, single submitter
Select item 138890283.	NM_018389.5(SLC35C1):c.820G>A (p.Gly274Ser) GRCh37: Chr11:45832611 GRCh38: Chr11:45811060	SLC35C1	G274S, G261S	Leukocyte adhesion deficiency type II	Uncertain significance (Aug 16, 2022)	criteria provided, single submitter
Select item 138380184.	NM_018389.5(SLC35C1):c.940TAC[1] (p.Tyr315del) GRCh37: Chr11:45832730-45832732 GRCh38: Chr11:45811179-45811181	SLC35C1	Y302del, Y315del	Leukocyte adhesion deficiency type II	Uncertain significance (Oct 24, 2021)	criteria provided, single submitter
Select item 138164885.	NM_018389.5(SLC35C1):c.10G>A (p.Ala4Thr) GRCh37: Chr11:45827362 GRCh38: Chr11:45805811	SLC35C1	A4T	Leukocyte adhesion deficiency type II	Uncertain significance (Aug 9, 2022)	criteria provided, single submitter
Select item 136303586.	NM_018389.5(SLC35C1):c.1021del (p.Arg341fs) GRCh37: Chr11:45832812 GRCh38: Chr11:45811261	SLC35C1	R341fs, R328fs	Leukocyte adhesion deficiency type II	Uncertain significance (Oct 14, 2021)	criteria provided, single submitter
Select item 135628887.	NM_018389.5(SLC35C1):c.330C>G (p.Asp110Glu) GRCh37: Chr11:45827682 GRCh38: Chr11:45806131	SLC35C1	D97E, D110E	Leukocyte adhesion deficiency type II	Uncertain significance (Aug 9, 2022)	criteria provided, single submitter
Select item 134955688.	NM_018389.5(SLC35C1):c.535G>A (p.Gly179Arg) GRCh37: Chr11:45827887 GRCh38: Chr11:45806336	SLC35C1	G179R, G166R	Leukocyte adhesion deficiency type II	Uncertain significance (Aug 5, 2022)	criteria provided, single submitter
Select item 134588289.	NM_018389.5(SLC35C1):c.260T>C (p.Leu87Pro) GRCh37: Chr11:45827612 GRCh38: Chr11:45806061	SLC35C1	L87P, L74P	Leukocyte adhesion deficiency type II	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 133903590.	NM_018389.5(SLC35C1):c.841G>A (p.Gly281Ser) GRCh37: Chr11:45832632 GRCh38: Chr11:45811081	SLC35C1	G268S, G281S	Leukocyte adhesion deficiency type II	Uncertain significance	criteria provided, single submitter
Select item 118481991.	NM_018389.5(SLC35C1):c.887A>G (p.His296Arg) GRCh37: Chr11:45832678 GRCh38: Chr11:45811127	SLC35C1	H283R, H296R	Leukocyte adhesion deficiency type II	Likely pathogenic	no assertion criteria provided
Select item 117306392.	NM_018389.5(SLC35C1):c.891T>A (p.Asn297Lys) GRCh37: Chr11:45832682 GRCh38: Chr11:45811131	SLC35C1	N284K, N297K	Leukocyte adhesion deficiency type II	Pathogenic	criteria provided, single submitter
Select item 116165993.	NM_018389.5(SLC35C1):c.858G>A (p.Leu286=) GRCh37: Chr11:45832649 GRCh38: Chr11:45811098	SLC35C1		Leukocyte adhesion deficiency type II	Likely benign (Oct 5, 2020)	criteria provided, single submitter
Select item 115762794.	NM_018389.5(SLC35C1):c.198C>T (p.Pro66=) GRCh37: Chr11:45827550 GRCh38: Chr11:45805999	SLC35C1		Leukocyte adhesion deficiency type II	Likely benign (Aug 26, 2019)	criteria provided, single submitter
Select item 115593695.	NM_018389.5(SLC35C1):c.939C>T (p.Leu313=) GRCh37: Chr11:45832730 GRCh38: Chr11:45811179	SLC35C1		Leukocyte adhesion deficiency type II	Likely benign (Oct 15, 2021)	criteria provided, single submitter
Select item 113910496.	NM_018389.5(SLC35C1):c.846C>T (p.Tyr282=) GRCh37: Chr11:45832637 GRCh38: Chr11:45811086	SLC35C1		Leukocyte adhesion deficiency type II	Likely benign (Apr 22, 2022)	criteria provided, single submitter
Select item 112644597.	NM_018389.5(SLC35C1):c.933C>G (p.Ala311=) GRCh37: Chr11:45832724 GRCh38: Chr11:45811173	SLC35C1		Leukocyte adhesion deficiency type II	Likely benign (Feb 5, 2020)	criteria provided, single submitter
Select item 111731298.	NM_018389.5(SLC35C1):c.354G>A (p.Leu118=) GRCh37: Chr11:45827706 GRCh38: Chr11:45806155	SLC35C1		Leukocyte adhesion deficiency type II	Likely benign (Aug 5, 2021)	criteria provided, single submitter
Select item 111429599.	NM_018389.5(SLC35C1):c.348C>T (p.Ser116=) GRCh37: Chr11:45827700 GRCh38: Chr11:45806149	SLC35C1		Leukocyte adhesion deficiency type II	Likely benign (Jun 13, 2022)	criteria provided, single submitter
Select item 1100846100.	NM_018389.5(SLC35C1):c.501C>T (p.Ser167=) GRCh37: Chr11:45827853 GRCh38: Chr11:45806302	SLC35C1		Leukocyte adhesion deficiency type II	Likely benign (Nov 3, 2019)	criteria provided, single submitter

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