ClinVar for MedGen (Select 411605) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24250281.	NC_000011.9:g.(?_58916346)_(64972349_?)dup GRCh37: Chr11:58916346-64972349	CAPN1, DDB1, MS4A10, SYT7, FADS1, FEN1, MIR192, ASRGL1, TM7SF2, SNORD22, LRRC10B, SCGB2A1, TAF6L, SLC22A10, CYB561A3, SPDYC, CD5, TRPT1, CCDC88B, MS4A14, TMEM109, ZBTB3, LRRN4CL, POLR2G, TMEM138, ZFTA, TMEM132A, MS4A12, SNORD29, OR4D10, OR5A2, UQCC3, MARK2, SLC15A3, TRMT112, SLC22A9, OTUB1, FTH1, SLC22A11, MS4A3, EEF1G, CSKMT, FKBP2, RTN3, SLC3A2, SCGB1D1, LBHD1, PLAAT5, CDCA5, SLC22A24, MS4A6A, OOSP2, TMEM179B, FAU, MAP4K2, STX3, SNORD31, SNORD30, EHD1, KCNK4, AHNAK, PRDX5, SNORD26, MS4A13, PYGM, DNAJC4, NRXN2, ZFPL1, MS4A8, TKFC, BEST1, SLC22A6, OR4D11, MIR194-2, TMEM223, PLCB3, VPS37C, MEN1, MS4A6E, SLC22A25, INCENP, SNHG1, ATG2A, OR10V1, NAA40, ESRRA, GANAB, OR4D6, LGALS12, BSCL2, SCGB1A1, PLAAT4, RPS6KA4, VEGFB, RAB3IL1, PPP1R14B, FERMT3, HNRNPUL2, PPP1R32, PGA5, BAD, GPHA2, ARL2, ZNHIT2, BATF2, B3GAT3, NUDT22, WDR74, NXF1, FLRT1, MS4A2, DTX4, STX5, GPR137, MS4A7, PATL1, PTGDR2, DAGLA, MS4A18, CDC42BPG, PPP2R5B, MS4A15, SDHAF2, MTA2, MS4A4E, OSBP, SAC3D1, MS4A5, MPEG1, PLAAT3, RCOR2, INTS5, FAM111A, EML3, ROM1, TTC9C, VPS51, GNG3, OR4D9, PRPF19, SPINDOC, CD6, SLC22A12, CBLIF, CCDC86, SCGB1D4, CHRM1, MS4A1, TMEM258, ATL3, PLAAT2, SYVN1, TMEM216, PGA4, COX8A, FADS2, SNX15, CATSPERZ, MS4A4A, SNORD28, SCGB1D2, SF1, MAJIN, CPSF7, OR5AN1, MACROD1, FADS3, STIP1, TUT1, MRPL49, UBXN1, MYRF, SLC22A8, VWCE, MRPL16, ZP1, SNORD27, TCN1, RASGRP2, NAALADL1, SNORD25, SCGB2A2, OR5A1, PGA3		not provided, Leukocyte adhesion deficiency 3	Uncertain significance (Aug 21, 2022)	criteria provided, single submitter
Select item 24204022.	NM_031471.6(FERMT3):c.894+20G>A GRCh37: Chr11:63986850 GRCh38: Chr11:64219378	FERMT3		Leukocyte adhesion deficiency 3	Likely benign (Sep 9, 2022)	criteria provided, single submitter
Select item 24203563.	NM_031471.6(FERMT3):c.1725C>A (p.Ile575=) GRCh37: Chr11:63990574 GRCh38: Chr11:64223102	FERMT3		Leukocyte adhesion deficiency 3	Likely benign (Feb 6, 2022)	criteria provided, single submitter
Select item 21930974.	NM_031471.6(FERMT3):c.1857C>T (p.Cys619=) GRCh37: Chr11:63990829 GRCh38: Chr11:64223357	FERMT3		Leukocyte adhesion deficiency 3	Likely benign (Apr 9, 2022)	criteria provided, single submitter
Select item 21921095.	NM_031471.6(FERMT3):c.1077T>G (p.Phe359Leu) GRCh37: Chr11:63987259 GRCh38: Chr11:64219787	FERMT3	F359L, F179L	Leukocyte adhesion deficiency 3, Inborn genetic diseases	Uncertain significance (Jul 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 21893216.	NM_031471.6(FERMT3):c.1807C>T (p.Arg603Trp) GRCh37: Chr11:63990656 GRCh38: Chr11:64223184	FERMT3	R427W, R603W, R423W, R607W	Leukocyte adhesion deficiency 3	Uncertain significance (Oct 3, 2022)	criteria provided, single submitter
Select item 21845727.	NM_031471.6(FERMT3):c.1392C>T (p.Ser464=) GRCh37: Chr11:63987988 GRCh38: Chr11:64220516	FERMT3		Leukocyte adhesion deficiency 3	Likely benign (Aug 10, 2022)	criteria provided, single submitter
Select item 21820698.	NM_031471.6(FERMT3):c.1977C>T (p.Gly659=) GRCh37: Chr11:63990949 GRCh38: Chr11:64223477	FERMT3		Leukocyte adhesion deficiency 3	Likely benign (Aug 31, 2022)	criteria provided, single submitter
Select item 21789419.	NM_031471.6(FERMT3):c.1718G>A (p.Arg573Gln) GRCh37: Chr11:63990567 GRCh38: Chr11:64223095	FERMT3	R397Q, R573Q, R577Q, R393Q	Leukocyte adhesion deficiency 3, Inborn genetic diseases	Uncertain significance (Jul 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 217745310.	NM_031471.6(FERMT3):c.394+19T>G GRCh37: Chr11:63978335 GRCh38: Chr11:64210863	FERMT3		Leukocyte adhesion deficiency 3	Likely benign (Dec 29, 2021)	criteria provided, single submitter
Select item 217288811.	NM_031471.6(FERMT3):c.124A>G (p.Ile42Val) GRCh37: Chr11:63974960 GRCh38: Chr11:64207488	FERMT3	I42V	Leukocyte adhesion deficiency 3	Uncertain significance (Aug 16, 2022)	criteria provided, single submitter
Select item 217065012.	NM_031471.6(FERMT3):c.964G>A (p.Asp322Asn) GRCh37: Chr11:63987065 GRCh38: Chr11:64219593	FERMT3	D142N, D322N	Leukocyte adhesion deficiency 3	Uncertain significance (Jun 30, 2022)	criteria provided, single submitter
Select item 216906113.	NM_031471.6(FERMT3):c.1670+19C>A GRCh37: Chr11:63988631 GRCh38: Chr11:64221159	FERMT3		Leukocyte adhesion deficiency 3	Likely benign (May 19, 2022)	criteria provided, single submitter
Select item 216854814.	NM_031471.6(FERMT3):c.1908C>T (p.Phe636=) GRCh37: Chr11:63990880 GRCh38: Chr11:64223408	FERMT3		Leukocyte adhesion deficiency 3	Likely benign (Jul 28, 2022)	criteria provided, single submitter
Select item 216555615.	NM_031471.6(FERMT3):c.1887G>C (p.Glu629Asp) GRCh37: Chr11:63990859 GRCh38: Chr11:64223387	FERMT3	E629D, E449D, E453D, E633D	Leukocyte adhesion deficiency 3	Uncertain significance (Dec 28, 2021)	criteria provided, single submitter
Select item 216255616.	NM_031471.6(FERMT3):c.45A>G (p.Ser15=) GRCh37: Chr11:63974881 GRCh38: Chr11:64207409	FERMT3		Leukocyte adhesion deficiency 3	Likely benign (Oct 13, 2022)	criteria provided, single submitter
Select item 216181417.	NM_031471.6(FERMT3):c.514+20G>A GRCh37: Chr11:63978663 GRCh38: Chr11:64211191	FERMT3		Leukocyte adhesion deficiency 3	Likely benign (Oct 17, 2022)	criteria provided, single submitter
Select item 215706018.	NM_031471.6(FERMT3):c.1483G>A (p.Glu495Lys) GRCh37: Chr11:63988079 GRCh38: Chr11:64220607	FERMT3	E499K, E315K, E319K, E495K	Leukocyte adhesion deficiency 3	Uncertain significance (Dec 30, 2021)	criteria provided, single submitter
Select item 215082219.	NM_031471.6(FERMT3):c.1740C>T (p.Ala580=) GRCh37: Chr11:63990589 GRCh38: Chr11:64223117	FERMT3		Leukocyte adhesion deficiency 3	Likely benign (Apr 4, 2022)	criteria provided, single submitter
Select item 215006020.	NM_031471.6(FERMT3):c.786+18G>A GRCh37: Chr11:63979237 GRCh38: Chr11:64211765	FERMT3		Leukocyte adhesion deficiency 3	Likely benign (Aug 31, 2022)	criteria provided, single submitter
Select item 214972521.	NM_031471.6(FERMT3):c.420C>T (p.Ser140=) GRCh37: Chr11:63978549 GRCh38: Chr11:64211077	FERMT3		Leukocyte adhesion deficiency 3	Likely benign (Jul 19, 2022)	criteria provided, single submitter
Select item 214847522.	NM_031471.6(FERMT3):c.164G>A (p.Arg55His) GRCh37: Chr11:63978086 GRCh38: Chr11:64210614	FERMT3	R55H	Leukocyte adhesion deficiency 3	Uncertain significance (Jun 10, 2022)	criteria provided, single submitter
Select item 214516223.	NM_031471.6(FERMT3):c.1596G>A (p.Leu532=) GRCh37: Chr11:63988538 GRCh38: Chr11:64221066	FERMT3		Leukocyte adhesion deficiency 3	Likely benign (Sep 14, 2022)	criteria provided, single submitter
Select item 214309224.	NM_031471.6(FERMT3):c.1080-16C>G GRCh37: Chr11:63987347 GRCh38: Chr11:64219875	FERMT3		Leukocyte adhesion deficiency 3	Likely benign (Jul 6, 2022)	criteria provided, single submitter
Select item 214096425.	NM_031471.6(FERMT3):c.1029+6G>T GRCh37: Chr11:63987136 GRCh38: Chr11:64219664	FERMT3		Leukocyte adhesion deficiency 3	Uncertain significance (Sep 6, 2022)	criteria provided, single submitter
Select item 213960726.	NM_031471.6(FERMT3):c.1545+14T>C GRCh37: Chr11:63988155 GRCh38: Chr11:64220683	FERMT3		Leukocyte adhesion deficiency 3	Likely benign (Aug 21, 2022)	criteria provided, single submitter
Select item 213948427.	NM_031471.6(FERMT3):c.1889A>G (p.Tyr630Cys) GRCh37: Chr11:63990861 GRCh38: Chr11:64223389	FERMT3	Y630C, Y454C, Y450C, Y634C	Leukocyte adhesion deficiency 3	Uncertain significance (May 20, 2022)	criteria provided, single submitter
Select item 212894728.	NM_031471.6(FERMT3):c.155A>G (p.Gln52Arg) GRCh37: Chr11:63974991 GRCh38: Chr11:64207519	FERMT3	Q52R	Leukocyte adhesion deficiency 3	Uncertain significance (Aug 2, 2022)	criteria provided, single submitter
Select item 212782929.	NM_031471.6(FERMT3):c.351C>G (p.Ser117=) GRCh37: Chr11:63978273 GRCh38: Chr11:64210801	FERMT3		Leukocyte adhesion deficiency 3	Likely benign (Apr 18, 2022)	criteria provided, single submitter
Select item 212720930.	NM_031471.6(FERMT3):c.1913C>A (p.Ser638Ter) GRCh37: Chr11:63990885 GRCh38: Chr11:64223413	FERMT3	S458, S462, S642, S638	Leukocyte adhesion deficiency 3	Uncertain significance (Apr 17, 2022)	criteria provided, single submitter
Select item 212611231.	NM_031471.6(FERMT3):c.834C>T (p.Asp278=) GRCh37: Chr11:63986770 GRCh38: Chr11:64219298	FERMT3		Leukocyte adhesion deficiency 3	Likely benign (Jul 9, 2022)	criteria provided, single submitter
Select item 212147232.	NM_031471.6(FERMT3):c.107T>C (p.Val36Ala) GRCh37: Chr11:63974943 GRCh38: Chr11:64207471	FERMT3	V36A	Leukocyte adhesion deficiency 3	Uncertain significance (Apr 4, 2022)	criteria provided, single submitter
Select item 210913833.	NM_031471.6(FERMT3):c.1360G>A (p.Gly454Ser) GRCh37: Chr11:63987956 GRCh38: Chr11:64220484	FERMT3	G274S, G278S, G458S, G454S	Leukocyte adhesion deficiency 3	Uncertain significance (Mar 11, 2022)	criteria provided, single submitter
Select item 210744734.	NM_031471.6(FERMT3):c.515-10T>G GRCh37: Chr11:63978737 GRCh38: Chr11:64211265	FERMT3		Leukocyte adhesion deficiency 3	Likely benign (Mar 6, 2022)	criteria provided, single submitter
Select item 210712335.	NM_031471.6(FERMT3):c.1448C>G (p.Pro483Arg) GRCh37: Chr11:63988044 GRCh38: Chr11:64220572	FERMT3	P303R, P307R, P487R, P483R	Leukocyte adhesion deficiency 3	Uncertain significance (Oct 13, 2022)	criteria provided, single submitter
Select item 210553236.	NM_031471.6(FERMT3):c.46T>C (p.Trp16Arg) GRCh37: Chr11:63974882 GRCh38: Chr11:64207410	FERMT3	W16R	Leukocyte adhesion deficiency 3	Uncertain significance (Mar 1, 2022)	criteria provided, single submitter
Select item 209624937.	NM_031471.6(FERMT3):c.1202A>C (p.Lys401Thr) GRCh37: Chr11:63987485 GRCh38: Chr11:64220013	FERMT3	K225T, K405T, K221T, K401T	Leukocyte adhesion deficiency 3	Uncertain significance (Feb 21, 2022)	criteria provided, single submitter
Select item 208992338.	NM_031471.6(FERMT3):c.1894G>A (p.Gly632Arg) GRCh37: Chr11:63990866 GRCh38: Chr11:64223394	FERMT3	G452R, G632R, G456R, G636R	Leukocyte adhesion deficiency 3	Uncertain significance (Feb 5, 2022)	criteria provided, single submitter
Select item 208856939.	NM_031471.6(FERMT3):c.1030-16T>G GRCh37: Chr11:63987196 GRCh38: Chr11:64219724	FERMT3		Leukocyte adhesion deficiency 3	Likely benign (Oct 17, 2022)	criteria provided, single submitter
Select item 208811740.	NM_031471.6(FERMT3):c.1566A>T (p.Glu522Asp) GRCh37: Chr11:63988508 GRCh38: Chr11:64221036	FERMT3	E522D, E342D, E526D, E346D	Leukocyte adhesion deficiency 3	Uncertain significance (Jul 12, 2022)	criteria provided, single submitter
Select item 208673941.	NM_031471.6(FERMT3):c.544C>T (p.Pro182Ser) GRCh37: Chr11:63978776 GRCh38: Chr11:64211304	FERMT3	P182S, P2S	Leukocyte adhesion deficiency 3	Uncertain significance (Feb 11, 2022)	criteria provided, single submitter
Select item 208520842.	NM_031471.6(FERMT3):c.394+11C>T GRCh37: Chr11:63978327 GRCh38: Chr11:64210855	FERMT3		Leukocyte adhesion deficiency 3	Likely benign (Aug 5, 2022)	criteria provided, single submitter
Select item 208189843.	NM_031471.6(FERMT3):c.1612C>T (p.Arg538Cys) GRCh37: Chr11:63988554 GRCh38: Chr11:64221082	FERMT3	R538C, R358C, R542C, R362C	Leukocyte adhesion deficiency 3	Uncertain significance (Mar 13, 2022)	criteria provided, single submitter
Select item 207874644.	NM_031471.6(FERMT3):c.643C>T (p.Arg215Trp) GRCh37: Chr11:63978875 GRCh38: Chr11:64211403	FERMT3	R35W, R215W	Leukocyte adhesion deficiency 3	Uncertain significance (Oct 26, 2022)	criteria provided, single submitter
Select item 206817245.	NM_031471.6(FERMT3):c.684-1G>A GRCh37: Chr11:63979116 GRCh38: Chr11:64211644	FERMT3		Leukocyte adhesion deficiency 3	Likely pathogenic (Jan 1, 2022)	criteria provided, single submitter
Select item 206395746.	NM_031471.6(FERMT3):c.930G>A (p.Val310=) GRCh37: Chr11:63987031 GRCh38: Chr11:64219559	FERMT3		Leukocyte adhesion deficiency 3	Likely benign (Dec 28, 2021)	criteria provided, single submitter
Select item 206041547.	NM_031471.6(FERMT3):c.323G>A (p.Arg108His) GRCh37: Chr11:63978245 GRCh38: Chr11:64210773	FERMT3	R108H	Leukocyte adhesion deficiency 3	Uncertain significance (Mar 13, 2022)	criteria provided, single submitter
Select item 205916048.	NM_031471.6(FERMT3):c.1164C>T (p.Asp388=) GRCh37: Chr11:63987447 GRCh38: Chr11:64219975	FERMT3		Leukocyte adhesion deficiency 3	Likely benign (May 25, 2022)	criteria provided, single submitter
Select item 205220449.	NM_031471.6(FERMT3):c.161-20T>C GRCh37: Chr11:63978063 GRCh38: Chr11:64210591	FERMT3		Leukocyte adhesion deficiency 3	Likely benign (Dec 21, 2021)	criteria provided, single submitter
Select item 204738350.	NM_031471.6(FERMT3):c.619C>G (p.Pro207Ala) GRCh37: Chr11:63978851 GRCh38: Chr11:64211379	FERMT3	P207A, P27A	Leukocyte adhesion deficiency 3	Uncertain significance (Dec 18, 2021)	criteria provided, single submitter
Select item 202304751.	NM_031471.6(FERMT3):c.847_853del (p.Glu283fs) GRCh37: Chr11:63986782-63986788 GRCh38: Chr11:64219310-64219316	FERMT3	E103fs, E283fs	Leukocyte adhesion deficiency 3	Pathogenic (Aug 9, 2022)	criteria provided, single submitter
Select item 202061652.	NM_031471.6(FERMT3):c.1812+13C>A GRCh37: Chr11:63990674 GRCh38: Chr11:64223202	FERMT3		Leukocyte adhesion deficiency 3	Likely benign (Jul 30, 2022)	criteria provided, single submitter
Select item 201963953.	NM_031471.6(FERMT3):c.1701G>A (p.Leu567=) GRCh37: Chr11:63990550 GRCh38: Chr11:64223078	FERMT3		Leukocyte adhesion deficiency 3	Likely benign (Aug 9, 2022)	criteria provided, single submitter
Select item 201877154.	NM_031471.6(FERMT3):c.1311+6T>G GRCh37: Chr11:63987804 GRCh38: Chr11:64220332	FERMT3		Leukocyte adhesion deficiency 3	Uncertain significance (Jul 21, 2022)	criteria provided, single submitter
Select item 201485755.	NM_031471.6(FERMT3):c.1907T>A (p.Phe636Tyr) GRCh37: Chr11:63990879 GRCh38: Chr11:64223407	FERMT3	F636Y, F640Y, F460Y, F456Y	Leukocyte adhesion deficiency 3	Uncertain significance (Jul 7, 2022)	criteria provided, single submitter
Select item 200978056.	NM_031471.6(FERMT3):c.843G>A (p.Leu281=) GRCh37: Chr11:63986779 GRCh38: Chr11:64219307	FERMT3		Leukocyte adhesion deficiency 3	Likely benign (Jun 23, 2022)	criteria provided, single submitter
Select item 200513857.	NM_031471.6(FERMT3):c.1766G>T (p.Arg589Leu) GRCh37: Chr11:63990615 GRCh38: Chr11:64223143	FERMT3	R413L, R589L, R593L, R409L	Leukocyte adhesion deficiency 3	Uncertain significance (Jun 12, 2022)	criteria provided, single submitter
Select item 200110358.	NM_031471.6(FERMT3):c.1634C>T (p.Ser545Phe) GRCh37: Chr11:63988576 GRCh38: Chr11:64221104	FERMT3	S369F, S545F, S549F, S365F	Leukocyte adhesion deficiency 3	Uncertain significance (May 30, 2022)	criteria provided, single submitter
Select item 199889259.	NM_031471.6(FERMT3):c.444G>C (p.Lys148Asn) GRCh37: Chr11:63978573 GRCh38: Chr11:64211101	FERMT3	K148N	Leukocyte adhesion deficiency 3	Uncertain significance (May 25, 2022)	criteria provided, single submitter
Select item 199191360.	NM_031471.6(FERMT3):c.737C>T (p.Ala246Val) GRCh37: Chr11:63979170 GRCh38: Chr11:64211698	FERMT3	A66V, A246V	Leukocyte adhesion deficiency 3	Uncertain significance (May 30, 2022)	criteria provided, single submitter
Select item 199169461.	NM_031471.6(FERMT3):c.749G>T (p.Arg250Leu) GRCh37: Chr11:63979182 GRCh38: Chr11:64211710	FERMT3	R70L, R250L	Leukocyte adhesion deficiency 3	Uncertain significance (May 25, 2022)	criteria provided, single submitter
Select item 199086662.	NM_031471.6(FERMT3):c.1352C>G (p.Ala451Gly) GRCh37: Chr11:63987948 GRCh38: Chr11:64220476	FERMT3	A271G, A275G, A451G, A455G	Leukocyte adhesion deficiency 3	Uncertain significance (Jul 16, 2022)	criteria provided, single submitter
Select item 198379763.	NM_031471.6(FERMT3):c.1512C>T (p.Ala504=) GRCh37: Chr11:63988108 GRCh38: Chr11:64220636	FERMT3		Leukocyte adhesion deficiency 3	Likely benign (Oct 15, 2022)	criteria provided, single submitter
Select item 198197664.	NM_031471.6(FERMT3):c.1187A>G (p.Gln396Arg) GRCh37: Chr11:63987470 GRCh38: Chr11:64219998	FERMT3	Q396R, Q220R, Q216R, Q400R	Leukocyte adhesion deficiency 3	Uncertain significance (Apr 10, 2022)	criteria provided, single submitter
Select item 198088465.	NM_031471.6(FERMT3):c.1222G>A (p.Asp408Asn) GRCh37: Chr11:63987709 GRCh38: Chr11:64220237	FERMT3	D408N, D228N, D412N, D232N	Leukocyte adhesion deficiency 3	Uncertain significance (Apr 10, 2022)	criteria provided, single submitter
Select item 197596466.	NM_031471.6(FERMT3):c.1917_1918delinsAG (p.Arg640Gly) GRCh37: Chr11:63990889-63990890 GRCh38: Chr11:64223417-64223418	FERMT3	R464G, R640G, R460G, R644G	Leukocyte adhesion deficiency 3	Uncertain significance (Sep 27, 2022)	criteria provided, single submitter
Select item 196924567.	NM_031471.6(FERMT3):c.213G>C (p.Gln71His) GRCh37: Chr11:63978135 GRCh38: Chr11:64210663	FERMT3	Q71H	Leukocyte adhesion deficiency 3	Uncertain significance (May 12, 2022)	criteria provided, single submitter
Select item 196914068.	NM_031471.6(FERMT3):c.431C>G (p.Ala144Gly) GRCh37: Chr11:63978560 GRCh38: Chr11:64211088	FERMT3	A144G	Leukocyte adhesion deficiency 3	Uncertain significance (Dec 19, 2021)	criteria provided, single submitter
Select item 196654169.	NM_031471.6(FERMT3):c.1011G>A (p.Ser337=) GRCh37: Chr11:63987112 GRCh38: Chr11:64219640	FERMT3		Leukocyte adhesion deficiency 3	Likely benign (Aug 27, 2022)	criteria provided, single submitter
Select item 196205670.	NM_031471.6(FERMT3):c.749G>A (p.Arg250His) GRCh37: Chr11:63979182 GRCh38: Chr11:64211710	FERMT3	R250H, R70H	Leukocyte adhesion deficiency 3	Uncertain significance (Jun 29, 2022)	criteria provided, single submitter
Select item 195708671.	NM_031471.6(FERMT3):c.1128C>T (p.Phe376=) GRCh37: Chr11:63987411 GRCh38: Chr11:64219939	FERMT3		Leukocyte adhesion deficiency 3	Likely benign (Dec 12, 2021)	criteria provided, single submitter
Select item 195490872.	NM_031471.6(FERMT3):c.1070G>A (p.Arg357Gln) GRCh37: Chr11:63987252 GRCh38: Chr11:64219780	FERMT3	R177Q, R357Q	Leukocyte adhesion deficiency 3	Uncertain significance (Apr 7, 2022)	criteria provided, single submitter
Select item 195322073.	NM_031471.6(FERMT3):c.609G>A (p.Pro203=) GRCh37: Chr11:63978841 GRCh38: Chr11:64211369	FERMT3		Leukocyte adhesion deficiency 3	Likely benign (Oct 17, 2022)	criteria provided, single submitter
Select item 195000674.	NM_031471.6(FERMT3):c.1170C>G (p.Ala390=) GRCh37: Chr11:63987453 GRCh38: Chr11:64219981	FERMT3		Leukocyte adhesion deficiency 3	Likely benign (Aug 22, 2022)	criteria provided, single submitter
Select item 194430375.	NM_031471.6(FERMT3):c.1979A>G (p.His660Arg) GRCh37: Chr11:63990951 GRCh38: Chr11:64223479	FERMT3	H484R, H480R, H660R, H664R	Leukocyte adhesion deficiency 3	Uncertain significance (Jun 21, 2022)	criteria provided, single submitter
Select item 193698176.	NM_031471.6(FERMT3):c.313C>T (p.Pro105Ser) GRCh37: Chr11:63978235 GRCh38: Chr11:64210763	FERMT3	P105S	Leukocyte adhesion deficiency 3	Uncertain significance (Aug 8, 2022)	criteria provided, single submitter
Select item 193309577.	NM_031471.6(FERMT3):c.1732G>A (p.Asp578Asn) GRCh37: Chr11:63990581 GRCh38: Chr11:64223109	FERMT3	D402N, D582N, D398N, D578N	Leukocyte adhesion deficiency 3	Uncertain significance (Jun 23, 2022)	criteria provided, single submitter
Select item 193112478.	NM_031471.6(FERMT3):c.1029+11G>C GRCh37: Chr11:63987141 GRCh38: Chr11:64219669	FERMT3		Leukocyte adhesion deficiency 3	Likely benign (Jul 8, 2022)	criteria provided, single submitter
Select item 192361379.	NM_031471.6(FERMT3):c.984C>A (p.Ser328Arg) GRCh37: Chr11:63987085 GRCh38: Chr11:64219613	FERMT3	S148R, S328R	Leukocyte adhesion deficiency 3	Uncertain significance (Jul 11, 2022)	criteria provided, single submitter
Select item 192149480.	NM_031471.6(FERMT3):c.534C>T (p.Phe178=) GRCh37: Chr11:63978766 GRCh38: Chr11:64211294	FERMT3		Leukocyte adhesion deficiency 3	Likely benign (Jun 10, 2022)	criteria provided, single submitter
Select item 192021081.	NM_031471.6(FERMT3):c.1813G>A (p.Val605Met) GRCh37: Chr11:63990785 GRCh38: Chr11:64223313	FERMT3	V429M, V609M, V425M, V605M	Leukocyte adhesion deficiency 3	Uncertain significance (May 17, 2022)	criteria provided, single submitter
Select item 191922682.	NM_031471.6(FERMT3):c.1205-3C>T GRCh37: Chr11:63987689 GRCh38: Chr11:64220217	FERMT3		Leukocyte adhesion deficiency 3	Uncertain significance (Dec 24, 2021)	criteria provided, single submitter
Select item 191913983.	NM_031471.6(FERMT3):c.748C>T (p.Arg250Cys) GRCh37: Chr11:63979181 GRCh38: Chr11:64211709	FERMT3	R70C, R250C	Leukocyte adhesion deficiency 3	Uncertain significance (Jul 21, 2022)	criteria provided, single submitter
Select item 191200684.	NM_031471.6(FERMT3):c.2T>G (p.Met1Arg) GRCh37: Chr11:63974838 GRCh38: Chr11:64207366	FERMT3	M1R	Leukocyte adhesion deficiency 3	Uncertain significance (Mar 12, 2022)	criteria provided, single submitter
Select item 191054385.	NM_031471.6(FERMT3):c.894+9C>A GRCh37: Chr11:63986839 GRCh38: Chr11:64219367	FERMT3		Leukocyte adhesion deficiency 3	Likely benign (Sep 14, 2022)	criteria provided, single submitter
Select item 190970386.	NM_031471.6(FERMT3):c.700C>T (p.Arg234Trp) GRCh37: Chr11:63979133 GRCh38: Chr11:64211661	FERMT3	R234W, R54W	Leukocyte adhesion deficiency 3	Uncertain significance (Feb 25, 2022)	criteria provided, single submitter
Select item 190863087.	NM_031471.6(FERMT3):c.514+15G>A GRCh37: Chr11:63978658 GRCh38: Chr11:64211186	FERMT3		Leukocyte adhesion deficiency 3	Likely benign (Jul 6, 2022)	criteria provided, single submitter
Select item 190654988.	NM_031471.6(FERMT3):c.730G>A (p.Gly244Arg) GRCh37: Chr11:63979163 GRCh38: Chr11:64211691	FERMT3	G244R, G64R	Leukocyte adhesion deficiency 3	Uncertain significance (Jul 6, 2022)	criteria provided, single submitter
Select item 190282889.	NM_031471.6(FERMT3):c.1029+20A>G GRCh37: Chr11:63987150 GRCh38: Chr11:64219678	FERMT3		Leukocyte adhesion deficiency 3	Likely benign (Jan 11, 2022)	criteria provided, single submitter
Select item 170384790.	NM_031471.6(FERMT3):c.593T>C (p.Leu198Pro) GRCh37: Chr11:63978825 GRCh38: Chr11:64211353	FERMT3	L18P, L198P	Leukocyte adhesion deficiency 3	Uncertain significance	criteria provided, single submitter
Select item 169405391.	NM_031471.6(FERMT3):c.1613G>A (p.Arg538His) GRCh37: Chr11:63988555 GRCh38: Chr11:64221083	FERMT3	R358H, R362H, R538H, R542H	not provided, Leukocyte adhesion deficiency 3	Uncertain significance (Mar 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 168680392.	NM_031471.6(FERMT3):c.921del (p.Ser307fs) GRCh37: Chr11:63987022 GRCh38: Chr11:64219550	FERMT3	S127fs, S307fs	Leukocyte adhesion deficiency 3	Pathogenic (May 5, 2020)	no assertion criteria provided
Select item 167197493.	NM_031471.6(FERMT3):c.642A>G (p.Pro214=) GRCh37: Chr11:63978874 GRCh38: Chr11:64211402	FERMT3		Leukocyte adhesion deficiency 3	Likely benign (Sep 19, 2022)	criteria provided, single submitter
Select item 167145994.	NM_031471.6(FERMT3):c.702G>A (p.Arg234=) GRCh37: Chr11:63979135 GRCh38: Chr11:64211663	FERMT3		Leukocyte adhesion deficiency 3	Likely benign (Jan 14, 2021)	criteria provided, single submitter
Select item 166365195.	NM_031471.6(FERMT3):c.435T>C (p.Pro145=) GRCh37: Chr11:63978564 GRCh38: Chr11:64211092	FERMT3		Leukocyte adhesion deficiency 3	Likely benign (Oct 4, 2022)	criteria provided, single submitter
Select item 166182296.	NM_031471.6(FERMT3):c.1080-15C>T GRCh37: Chr11:63987348 GRCh38: Chr11:64219876	FERMT3		Leukocyte adhesion deficiency 3	Likely benign (Jul 12, 2022)	criteria provided, single submitter
Select item 166098497.	NM_031471.6(FERMT3):c.219G>A (p.Leu73=) GRCh37: Chr11:63978141 GRCh38: Chr11:64210669	FERMT3		Leukocyte adhesion deficiency 3	Likely benign (May 21, 2021)	criteria provided, single submitter
Select item 166068798.	NM_031471.6(FERMT3):c.1374C>T (p.Ala458=) GRCh37: Chr11:63987970 GRCh38: Chr11:64220498	FERMT3		Leukocyte adhesion deficiency 3	Likely benign (Jul 12, 2021)	criteria provided, single submitter
Select item 165872799.	NM_031471.6(FERMT3):c.160+11G>A GRCh37: Chr11:63975007 GRCh38: Chr11:64207535	FERMT3		Leukocyte adhesion deficiency 3	Likely benign (Dec 4, 2020)	criteria provided, single submitter
Select item 1654423100.	NM_031471.6(FERMT3):c.1389C>T (p.Thr463=) GRCh37: Chr11:63987985 GRCh38: Chr11:64220513	FERMT3		Leukocyte adhesion deficiency 3	Likely benign (Dec 15, 2020)	criteria provided, single submitter

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