FERMT3 (FERM domain containing kindlin 3) - Rat Genome Database

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Gene: FERMT3 (FERM domain containing kindlin 3) Homo sapiens
Analyze
Symbol: FERMT3
Name: FERM domain containing kindlin 3
RGD ID: 1602673
HGNC Page HGNC:23151
Description: Enables lipid binding activity. Involved in several processes, including integrin activation; integrin-mediated signaling pathway; and substrate adhesion-dependent cell spreading. Located in extracellular exosome and membrane. Implicated in leukocyte adhesion deficiency 1 and leukocyte adhesion deficiency 3. Biomarker of acute myeloid leukemia.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: fermitin family homolog 3; fermitin family member 3; KIND3; kindlin 3; MGC10966; MIG-2; MIG2-like protein; MIG2B; UNC-112 related protein 2; unc-112-related protein 2; UNC112C; URP2; URP2SF
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: AC138761.2   AC233702.2  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381164,205,920 - 64,223,891 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1164,205,926 - 64,223,896 (+)EnsemblGRCh38hg38GRCh38
GRCh371163,973,392 - 63,991,363 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361163,730,782 - 63,747,939 (+)NCBINCBI36Build 36hg18NCBI36
Celera1161,300,902 - 61,318,205 (+)NCBICelera
Cytogenetic Map11q13.1NCBI
HuRef1160,302,226 - 60,319,415 (+)NCBIHuRef
CHM1_11163,857,143 - 63,874,352 (+)NCBICHM1_1
T2T-CHM13v2.01164,195,866 - 64,213,837 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Talins and kindlins: partners in integrin-mediated adhesion. Calderwood DA, etal., Nat Rev Mol Cell Biol. 2013 Aug;14(8):503-17. doi: 10.1038/nrm3624. Epub 2013 Jul 17.
2. Discovery of serum biomarkers implicated in the onset and progression of serous ovarian cancer in a rat model using iTRAQ technique. Huang Y, etal., Eur J Obstet Gynecol Reprod Biol. 2012 Nov;165(1):96-103. doi: 10.1016/j.ejogrb.2012.06.031. Epub 2012 Jul 18.
3. LAD-1/variant syndrome is caused by mutations in FERMT3. Kuijpers TW, etal., Blood. 2009 May 7;113(19):4740-6. doi: 10.1182/blood-2008-10-182154. Epub 2008 Dec 8.
4. Kindlin 3 (FERMT3) is associated with unstable atherosclerotic plaques, anti-inflammatory type II macrophages and upregulation of beta-2 integrins in all major arterial beds. Oksala N, etal., Atherosclerosis. 2015 Sep;242(1):145-54. doi: 10.1016/j.atherosclerosis.2015.06.058. Epub 2015 Jul 13.
5. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
6. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
7. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
8. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
9. Leukocyte adhesion deficiency-III is caused by mutations in KINDLIN3 affecting integrin activation. Svensson L, etal., Nat Med. 2009 Mar;15(3):306-12. doi: 10.1038/nm.1931. Epub 2009 Feb 22.
10. [Expression of Kindlins and angiopoietins in acute myeloid leukemia]. Wu WB, etal., Zhongguo Shi Yan Xue Ye Xue Za Zhi. 2012 Feb;20(1):7-11.
Additional References at PubMed
PMID:12477932   PMID:12697302   PMID:12789646   PMID:12886250   PMID:14702039   PMID:15231747   PMID:15489334   PMID:18280249   PMID:18779414   PMID:19234460   PMID:19234461   PMID:19240021  
PMID:19617577   PMID:19647987   PMID:19738201   PMID:19786618   PMID:19854292   PMID:19946888   PMID:20216991   PMID:20357244   PMID:20378539   PMID:20458337   PMID:21044950   PMID:21536861  
PMID:21784300   PMID:21832049   PMID:21871525   PMID:21873635   PMID:21911599   PMID:22134107   PMID:22139635   PMID:22334666   PMID:22564402   PMID:22623428   PMID:22983444   PMID:23012377  
PMID:23022222   PMID:23144497   PMID:23382103   PMID:23437269   PMID:23595985   PMID:23823319   PMID:24010654   PMID:24336678   PMID:24469992   PMID:24523237   PMID:24583125   PMID:24615351  
PMID:25086068   PMID:25152024   PMID:25237194   PMID:25344860   PMID:25450970   PMID:25609252   PMID:25724625   PMID:25854317   PMID:26282877   PMID:26334393   PMID:26344197   PMID:26359933  
PMID:26496610   PMID:26677948   PMID:26994136   PMID:27101375   PMID:28514442   PMID:28533407   PMID:28677779   PMID:28778805   PMID:29242293   PMID:29478914   PMID:29656482   PMID:30021884  
PMID:30196744   PMID:30397336   PMID:30463901   PMID:30783087   PMID:31586073   PMID:31724816   PMID:31907416   PMID:32094207   PMID:32296183   PMID:32350230   PMID:32513696   PMID:32644996  
PMID:32777822   PMID:33417921   PMID:33783564   PMID:33961781   PMID:34742298   PMID:35048636   PMID:35672907   PMID:36217030   PMID:36648575   PMID:36649586   PMID:36849460   PMID:38117590  
PMID:38255822  


Genomics

Comparative Map Data
FERMT3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381164,205,920 - 64,223,891 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1164,205,926 - 64,223,896 (+)EnsemblGRCh38hg38GRCh38
GRCh371163,973,392 - 63,991,363 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361163,730,782 - 63,747,939 (+)NCBINCBI36Build 36hg18NCBI36
Celera1161,300,902 - 61,318,205 (+)NCBICelera
Cytogenetic Map11q13.1NCBI
HuRef1160,302,226 - 60,319,415 (+)NCBIHuRef
CHM1_11163,857,143 - 63,874,352 (+)NCBICHM1_1
T2T-CHM13v2.01164,195,866 - 64,213,837 (+)NCBIT2T-CHM13v2.0
Fermt3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39196,976,326 - 6,996,837 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl196,976,326 - 6,996,837 (-)EnsemblGRCm39 Ensembl
GRCm38196,998,958 - 7,019,469 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl196,998,958 - 7,019,469 (-)EnsemblGRCm38mm10GRCm38
MGSCv37197,073,448 - 7,093,959 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36197,066,022 - 7,086,479 (-)NCBIMGSCv36mm8
Celera196,776,072 - 6,796,571 (-)NCBICelera
Cytogenetic Map19ANCBI
cM Map195.13NCBI
Fermt3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81213,618,691 - 213,636,889 (-)NCBIGRCr8
mRatBN7.21204,189,483 - 204,207,683 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1204,189,484 - 204,207,587 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1212,539,412 - 212,557,495 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01219,634,742 - 219,652,846 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01212,325,797 - 212,343,899 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01222,254,183 - 222,272,775 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1222,254,184 - 222,272,285 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01229,244,957 - 229,263,151 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41209,672,810 - 209,691,579 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11209,831,588 - 209,849,487 (-)NCBI
Celera1201,722,934 - 201,740,947 (-)NCBICelera
Cytogenetic Map1q43NCBI
Fermt3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495542220,851,805 - 20,870,463 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495542220,854,297 - 20,870,463 (-)NCBIChiLan1.0ChiLan1.0
FERMT3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2965,432,712 - 65,451,101 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11166,478,042 - 66,496,235 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01159,562,861 - 59,581,054 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11162,909,030 - 62,928,191 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1162,909,030 - 62,928,191 (+)Ensemblpanpan1.1panPan2
FERMT3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11852,833,954 - 52,851,775 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1852,834,001 - 52,851,667 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1851,440,706 - 51,458,507 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01853,879,047 - 53,896,895 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1853,879,061 - 53,896,859 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11852,981,873 - 52,999,678 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01852,557,448 - 52,575,268 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01853,341,355 - 53,359,153 (-)NCBIUU_Cfam_GSD_1.0
Fermt3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244049478,533,086 - 8,546,891 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365994,973,172 - 4,989,166 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365994,975,435 - 4,989,225 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
FERMT3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl27,886,790 - 7,909,158 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.127,886,781 - 7,909,892 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.226,953,552 - 6,976,689 (-)NCBISscrofa10.2Sscrofa10.2susScr3
FERMT3
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1110,012,007 - 10,031,177 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl110,009,626 - 10,031,209 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666038107,351,345 - 107,371,901 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Fermt3
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462476722,082,436 - 22,100,969 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462476722,082,431 - 22,101,003 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in FERMT3
476 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_031471.6(FERMT3):c.1841A>G (p.Asn614Ser) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV000551814] Chr11:64223341 [GRCh38]
Chr11:63990813 [GRCh37]
Chr11:11q13.1		 uncertain significance
FERMT3, GLY308ARG single nucleotide variant LEUKOCYTE ADHESION DEFICIENCY, TYPE III [RCV000023664]|Leukocyte adhesion deficiency, type III [RCV000023664] Chr11:11q12 pathogenic
NM_031471.6(FERMT3):c.1275del (p.Glu426fs) deletion Leukocyte adhesion deficiency 3 [RCV000023665] Chr11:64220290 [GRCh38]
Chr11:63987762 [GRCh37]
Chr11:11q13.1		 pathogenic
NM_031471.6(FERMT3):c.161-2A>C single nucleotide variant Leukocyte adhesion deficiency 3 [RCV000024239] Chr11:64210609 [GRCh38]
Chr11:63978081 [GRCh37]
Chr11:11q13.1		 pathogenic
NM_031471.6(FERMT3):c.1671-2A>G single nucleotide variant Leukocyte adhesion deficiency 3 [RCV000002827] Chr11:64223046 [GRCh38]
Chr11:63990518 [GRCh37]
Chr11:11q13.1		 pathogenic
NM_031471.6(FERMT3):c.48G>A (p.Trp16Ter) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV000002828] Chr11:64207412 [GRCh38]
Chr11:63974884 [GRCh37]
Chr11:11q13.1		 pathogenic
NM_031471.6(FERMT3):c.1717C>T (p.Arg573Ter) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV000002829] Chr11:64223094 [GRCh38]
Chr11:63990566 [GRCh37]
Chr11:11q13.1		 pathogenic|likely pathogenic
NM_031471.6(FERMT3):c.687G>A (p.Trp229Ter) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV000002830] Chr11:64211648 [GRCh38]
Chr11:63979120 [GRCh37]
Chr11:11q13.1		 pathogenic
NM_031471.6(FERMT3):c.1525C>T (p.Arg509Ter) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV000002831] Chr11:64220649 [GRCh38]
Chr11:63988121 [GRCh37]
Chr11:11q13.1		 pathogenic
NM_031471.6(FERMT3):c.941C>T (p.Ala314Val) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV000552041] Chr11:64219570 [GRCh38]
Chr11:63987042 [GRCh37]
Chr11:11q13.1		 uncertain significance
Single allele deletion Intellectual disability [RCV001293382] Chr11:118359328..118372573 [GRCh37]
Chr11:11p15.3-q23.3		 pathogenic
NM_031471.6(FERMT3):c.1917G>A (p.Thr639=) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV000527694]|not specified [RCV000174955] Chr11:64223417 [GRCh38]
Chr11:63990889 [GRCh37]
Chr11:11q13.1		 benign
NM_031471.6(FERMT3):c.159C>G (p.Ile53Met) single nucleotide variant FERMT3-related condition [RCV003907578]|Leukocyte adhesion deficiency 3 [RCV000646732]|not specified [RCV000175956] Chr11:64207523 [GRCh38]
Chr11:63974995 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.130G>A (p.Gly44Arg) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV001081827]|not provided [RCV000526322]|not specified [RCV000175957] Chr11:64207494 [GRCh38]
Chr11:63974966 [GRCh37]
Chr11:11q13.1		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_031471.6(FERMT3):c.405C>T (p.His135=) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV000540280]|not provided [RCV003390901]|not specified [RCV000178372] Chr11:64211062 [GRCh38]
Chr11:63978534 [GRCh37]
Chr11:11q13.1		 benign
NM_031471.6(FERMT3):c.1188G>A (p.Gln396=) single nucleotide variant FERMT3-related condition [RCV003907556]|Leukocyte adhesion deficiency 3 [RCV001079604]|not provided [RCV000173905] Chr11:64219999 [GRCh38]
Chr11:63987471 [GRCh37]
Chr11:11q13.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_031471.6(FERMT3):c.1893C>T (p.Ile631=) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV000603085]|not provided [RCV000174954] Chr11:64223393 [GRCh38]
Chr11:63990865 [GRCh37]
Chr11:11q13.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 11q12.3-13.1(chr11:62893226-64335043)x1 copy number loss See cases [RCV000140879] Chr11:62893226..64335043 [GRCh38]
Chr11:62660698..64102515 [GRCh37]
Chr11:62417274..63859091 [NCBI36]
Chr11:11q12.3-13.1		 likely pathogenic
NM_031471.6(FERMT3):c.708C>T (p.Leu236=) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV002515276]|not provided [RCV000179545] Chr11:64211669 [GRCh38]
Chr11:63979141 [GRCh37]
Chr11:11q13.1		 likely benign|uncertain significance
NM_031471.6(FERMT3):c.615C>T (p.Pro205=) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV001086489]|not provided [RCV000288795] Chr11:64211375 [GRCh38]
Chr11:63978847 [GRCh37]
Chr11:11q13.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_031471.6(FERMT3):c.568C>G (p.Gln190Glu) single nucleotide variant FERMT3-related condition [RCV003949896]|Leukocyte adhesion deficiency 3 [RCV001217090]|not provided [RCV000323465] Chr11:64211328 [GRCh38]
Chr11:63978800 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.1918C>T (p.Arg640Trp) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV002519264]|not provided [RCV000292901] Chr11:64223418 [GRCh38]
Chr11:63990890 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.593T>C (p.Leu198Pro) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV002281006] Chr11:64211353 [GRCh38]
Chr11:63978825 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.1404C>T (p.Ala468=) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV000646733]|not specified [RCV000593665] Chr11:64220528 [GRCh38]
Chr11:63988000 [GRCh37]
Chr11:11q13.1		 benign|likely benign
NM_031471.6(FERMT3):c.1320G>A (p.Gln440=) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV000539188] Chr11:64220444 [GRCh38]
Chr11:63987916 [GRCh37]
Chr11:11q13.1		 benign|likely benign
NM_031471.6(FERMT3):c.331C>T (p.Arg111Cys) single nucleotide variant Inborn genetic diseases [RCV002536597]|Leukocyte adhesion deficiency 3 [RCV000767975] Chr11:64210781 [GRCh38]
Chr11:63978253 [GRCh37]
Chr11:11q13.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_031471.6(FERMT3):c.1506C>T (p.Leu502=) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV001518720]|not provided [RCV001598669]|not specified [RCV000454692] Chr11:64220630 [GRCh38]
Chr11:63988102 [GRCh37]
Chr11:11q13.1		 benign
NM_031471.6(FERMT3):c.161-16C>G single nucleotide variant Leukocyte adhesion deficiency 3 [RCV001515579]|not provided [RCV001683490]|not specified [RCV000454704] Chr11:64210595 [GRCh38]
Chr11:63978067 [GRCh37]
Chr11:11q13.1		 benign
NM_031471.6(FERMT3):c.86C>T (p.Ala29Val) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV000477963] Chr11:64207450 [GRCh38]
Chr11:63974922 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.787-10C>A single nucleotide variant Leukocyte adhesion deficiency 3 [RCV001518718]|not provided [RCV001707692]|not specified [RCV000455375] Chr11:64219241 [GRCh38]
Chr11:63986713 [GRCh37]
Chr11:11q13.1		 benign
NM_031471.6(FERMT3):c.1080-24C>T single nucleotide variant not provided [RCV001675898]|not specified [RCV000456019] Chr11:64219867 [GRCh38]
Chr11:63987339 [GRCh37]
Chr11:11q13.1		 benign
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) copy number gain See cases [RCV000511729] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 copy number gain See cases [RCV000510881] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
NM_031471.6(FERMT3):c.1317G>A (p.Gln439=) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV000625036] Chr11:64220441 [GRCh38]
Chr11:63987913 [GRCh37]
Chr11:11q13.1		 benign|likely benign
NM_031471.6(FERMT3):c.796G>A (p.Val266Met) single nucleotide variant Inborn genetic diseases [RCV003258299] Chr11:64219260 [GRCh38]
Chr11:63986732 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.536G>A (p.Arg179Gln) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV000646729] Chr11:64211296 [GRCh38]
Chr11:63978768 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.268C>T (p.Arg90Cys) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV000646730] Chr11:64210718 [GRCh38]
Chr11:63978190 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.447GAA[3] (p.Lys153del) microsatellite Leukocyte adhesion deficiency 3 [RCV000646731] Chr11:64211103..64211105 [GRCh38]
Chr11:63978575..63978577 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.1158C>G (p.Ser386Arg) single nucleotide variant FERMT3-related condition [RCV003953162]|Leukocyte adhesion deficiency 3 [RCV000646734] Chr11:64219969 [GRCh38]
Chr11:63987441 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.930G>C (p.Val310=) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV000646735] Chr11:64219559 [GRCh38]
Chr11:63987031 [GRCh37]
Chr11:11q13.1		 benign|likely benign
NM_031471.6(FERMT3):c.684-10C>G single nucleotide variant Leukocyte adhesion deficiency 3 [RCV000646736] Chr11:64211635 [GRCh38]
Chr11:63979107 [GRCh37]
Chr11:11q13.1		 benign
NM_031471.6(FERMT3):c.320G>A (p.Arg107His) single nucleotide variant Inborn genetic diseases [RCV002530483]|Leukocyte adhesion deficiency 3 [RCV000646737] Chr11:64210770 [GRCh38]
Chr11:63978242 [GRCh37]
Chr11:11q13.1		 likely benign|uncertain significance
NM_031471.6(FERMT3):c.607C>T (p.Pro203Ser) single nucleotide variant Inborn genetic diseases [RCV003343973]|Leukocyte adhesion deficiency 3 [RCV000646738] Chr11:64211367 [GRCh38]
Chr11:63978839 [GRCh37]
Chr11:11q13.1		 likely benign|uncertain significance
NM_031471.6(FERMT3):c.1080-4G>A single nucleotide variant Leukocyte adhesion deficiency 3 [RCV001425618] Chr11:64219887 [GRCh38]
Chr11:63987359 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.1692C>T (p.Asp564=) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV000646740] Chr11:64223069 [GRCh38]
Chr11:63990541 [GRCh37]
Chr11:11q13.1		 benign|likely benign
NM_031471.6(FERMT3):c.558G>A (p.Ser186=) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV000767977] Chr11:64211318 [GRCh38]
Chr11:63978790 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.849G>T (p.Glu283Asp) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV000687389] Chr11:64219313 [GRCh38]
Chr11:63986785 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.386G>A (p.Arg129His) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV000698068] Chr11:64210836 [GRCh38]
Chr11:63978308 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.1895G>T (p.Gly632Val) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV000699817] Chr11:64223395 [GRCh38]
Chr11:63990867 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.56G>A (p.Arg19Gln) single nucleotide variant Inborn genetic diseases [RCV002536387]|Leukocyte adhesion deficiency 3 [RCV000704580] Chr11:64207420 [GRCh38]
Chr11:63974892 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.634C>T (p.Arg212Cys) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV000699563] Chr11:64211394 [GRCh38]
Chr11:63978866 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.922G>A (p.Gly308Arg) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV000702881] Chr11:64219551 [GRCh38]
Chr11:63987023 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.298G>A (p.Val100Ile) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV000707414] Chr11:64210748 [GRCh38]
Chr11:63978220 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.332G>A (p.Arg111His) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV000701213]|Leukocyte adhesion deficiency [RCV002466570]|not provided [RCV001529981] Chr11:64210782 [GRCh38]
Chr11:63978254 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.1924C>T (p.Arg642Trp) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV000705954] Chr11:64223424 [GRCh38]
Chr11:63990896 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.736G>A (p.Ala246Thr) single nucleotide variant FERMT3-related condition [RCV003892690]|Inborn genetic diseases [RCV002533929]|Leukocyte adhesion deficiency 3 [RCV000767978]|not provided [RCV002293478] Chr11:64211697 [GRCh38]
Chr11:63979169 [GRCh37]
Chr11:11q13.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 copy number gain not provided [RCV000737348] Chr11:198510..134934063 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 copy number gain not provided [RCV000749874] Chr11:70864..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
NM_031471.6(FERMT3):c.1448C>T (p.Pro483Leu) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV001046043] Chr11:64220572 [GRCh38]
Chr11:63988044 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.1722G>C (p.Leu574=) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV000882340] Chr11:64223099 [GRCh38]
Chr11:63990571 [GRCh37]
Chr11:11q13.1		 benign
NM_031471.6(FERMT3):c.963C>T (p.Asp321=) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV002065997] Chr11:64219592 [GRCh38]
Chr11:63987064 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.1434G>A (p.Thr478=) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV000926556] Chr11:64220558 [GRCh38]
Chr11:63988030 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.138C>T (p.Leu46=) single nucleotide variant not provided [RCV000925616] Chr11:64207502 [GRCh38]
Chr11:63974974 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.1408C>T (p.Leu470=) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV000943708] Chr11:64220532 [GRCh38]
Chr11:63988004 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.1464C>T (p.His488=) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV001476439] Chr11:64220588 [GRCh38]
Chr11:63988060 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.527C>T (p.Ala176Val) single nucleotide variant FERMT3-related condition [RCV003930468]|Inborn genetic diseases [RCV002536805]|Leukocyte adhesion deficiency 3 [RCV000879029]|not specified [RCV003330986] Chr11:64211287 [GRCh38]
Chr11:63978759 [GRCh37]
Chr11:11q13.1		 benign|likely benign|uncertain significance
NM_031471.6(FERMT3):c.303C>T (p.Ile101=) single nucleotide variant FERMT3-related condition [RCV003905932]|Leukocyte adhesion deficiency 3 [RCV000967629]|not provided [RCV003392710] Chr11:64210753 [GRCh38]
Chr11:63978225 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.1393G>A (p.Glu465Lys) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV000883977] Chr11:64220517 [GRCh38]
Chr11:63987989 [GRCh37]
Chr11:11q13.1		 benign
NM_031471.6(FERMT3):c.1523A>C (p.Gln508Pro) single nucleotide variant FERMT3-related condition [RCV003957986]|Inborn genetic diseases [RCV003344121]|Leukocyte adhesion deficiency 3 [RCV000892963] Chr11:64220647 [GRCh38]
Chr11:63988119 [GRCh37]
Chr11:11q13.1		 likely benign|uncertain significance
NM_031471.6(FERMT3):c.684-10C>T single nucleotide variant Leukocyte adhesion deficiency 3 [RCV000922046] Chr11:64211635 [GRCh38]
Chr11:63979107 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.315C>G (p.Pro105=) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV000884807] Chr11:64210765 [GRCh38]
Chr11:63978237 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.536G>T (p.Arg179Leu) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV001061264] Chr11:64211296 [GRCh38]
Chr11:63978768 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.608C>T (p.Pro203Leu) single nucleotide variant FERMT3-related condition [RCV003411966]|Inborn genetic diseases [RCV002551438]|Leukocyte adhesion deficiency 3 [RCV001039076] Chr11:64211368 [GRCh38]
Chr11:63978840 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.635G>A (p.Arg212His) single nucleotide variant Inborn genetic diseases [RCV002554639]|Leukocyte adhesion deficiency 3 [RCV001071937] Chr11:64211395 [GRCh38]
Chr11:63978867 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.249C>T (p.Tyr83=) single nucleotide variant FERMT3-related condition [RCV003902842]|Leukocyte adhesion deficiency 3 [RCV000908457] Chr11:64210699 [GRCh38]
Chr11:63978171 [GRCh37]
Chr11:11q13.1		 benign|likely benign
NM_031471.6(FERMT3):c.1548C>A (p.Leu516=) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV000977305] Chr11:64221018 [GRCh38]
Chr11:63988490 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.786+10G>T single nucleotide variant Leukocyte adhesion deficiency 3 [RCV000886942] Chr11:64211757 [GRCh38]
Chr11:63979229 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.921C>T (p.Ser307=) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV000887352]|not provided [RCV003392676] Chr11:64219550 [GRCh38]
Chr11:63987022 [GRCh37]
Chr11:11q13.1		 benign|likely benign
NM_031471.6(FERMT3):c.684-5C>G single nucleotide variant FERMT3-related condition [RCV003908378]|Leukocyte adhesion deficiency 3 [RCV000879030] Chr11:64211640 [GRCh38]
Chr11:63979112 [GRCh37]
Chr11:11q13.1		 benign
NM_031471.6(FERMT3):c.1545+10G>A single nucleotide variant Leukocyte adhesion deficiency 3 [RCV000943603] Chr11:64220679 [GRCh38]
Chr11:63988151 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.660A>G (p.Ser220=) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV001427056] Chr11:64211420 [GRCh38]
Chr11:63978892 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.206A>C (p.Lys69Thr) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV000950765] Chr11:64210656 [GRCh38]
Chr11:63978128 [GRCh37]
Chr11:11q13.1		 benign
NM_031471.6(FERMT3):c.787-8C>T single nucleotide variant Leukocyte adhesion deficiency 3 [RCV001432771] Chr11:64219243 [GRCh38]
Chr11:63986715 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.41C>G (p.Ser14Trp) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV000796873] Chr11:64207405 [GRCh38]
Chr11:63974877 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.1029+2T>C single nucleotide variant Leukocyte adhesion deficiency 3 [RCV000801162] Chr11:64219660 [GRCh38]
Chr11:63987132 [GRCh37]
Chr11:11q13.1		 pathogenic
NM_031471.6(FERMT3):c.517G>A (p.Val173Met) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV000820388] Chr11:64211277 [GRCh38]
Chr11:63978749 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.565G>A (p.Ala189Thr) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV000804033] Chr11:64211325 [GRCh38]
Chr11:63978797 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.901A>G (p.Ile301Val) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV000800561] Chr11:64219530 [GRCh38]
Chr11:63987002 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.1472A>C (p.Asp491Ala) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV000799221] Chr11:64220596 [GRCh38]
Chr11:63988068 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.1400A>G (p.Gln467Arg) single nucleotide variant Inborn genetic diseases [RCV002535969]|Leukocyte adhesion deficiency 3 [RCV000823023] Chr11:64220524 [GRCh38]
Chr11:63987996 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.1658_1659del (p.Tyr553fs) deletion Leukocyte adhesion deficiency 3 [RCV000797769] Chr11:64221127..64221128 [GRCh38]
Chr11:63988599..63988600 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.814dup (p.Tyr272fs) duplication Leukocyte adhesion deficiency 3 [RCV000808521] Chr11:64219277..64219278 [GRCh38]
Chr11:63986749..63986750 [GRCh37]
Chr11:11q13.1		 pathogenic
NM_031471.6(FERMT3):c.992A>C (p.Glu331Ala) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV000811283] Chr11:64219621 [GRCh38]
Chr11:63987093 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.1520T>G (p.Phe507Cys) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV001045414] Chr11:64220644 [GRCh38]
Chr11:63988116 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.269G>A (p.Arg90His) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV000810614] Chr11:64210719 [GRCh38]
Chr11:63978191 [GRCh37]
Chr11:11q13.1		 uncertain significance
dup(11)(q13.1q13.1) duplication Ependymoma [RCV000785872] Chr11:63533279..65429676 [GRCh37]
Chr11:11q13.1		 likely pathogenic
NM_031471.6(FERMT3):c.664_665del (p.Lys222fs) deletion Leukocyte adhesion deficiency 3 [RCV000797176] Chr11:64211424..64211425 [GRCh38]
Chr11:63978896..63978897 [GRCh37]
Chr11:11q13.1		 pathogenic
NM_031471.6(FERMT3):c.1237G>A (p.Gly413Ser) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV000800920] Chr11:64220252 [GRCh38]
Chr11:63987724 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.1507G>A (p.Val503Ile) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV001065452] Chr11:64220631 [GRCh38]
Chr11:63988103 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.5C>T (p.Ala2Val) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV001210681] Chr11:64207369 [GRCh38]
Chr11:63974841 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.140T>A (p.Leu47Gln) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV001046680] Chr11:64207504 [GRCh38]
Chr11:63974976 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.629T>A (p.Leu210His) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV001226337] Chr11:64211389 [GRCh38]
Chr11:63978861 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.1030-3T>C single nucleotide variant Leukocyte adhesion deficiency 3 [RCV001243005] Chr11:64219737 [GRCh38]
Chr11:63987209 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.1139C>T (p.Thr380Ile) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV001220582] Chr11:64219950 [GRCh38]
Chr11:63987422 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.616G>A (p.Asp206Asn) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV001237298] Chr11:64211376 [GRCh38]
Chr11:63978848 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.1931G>A (p.Arg644His) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV001223521] Chr11:64223431 [GRCh38]
Chr11:63990903 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.1312-2A>C single nucleotide variant Leukocyte adhesion deficiency 3 [RCV001218117] Chr11:64220434 [GRCh38]
Chr11:63987906 [GRCh37]
Chr11:11q13.1		 likely pathogenic
NM_031471.6(FERMT3):c.34A>G (p.Ile12Val) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV001221854] Chr11:64207398 [GRCh38]
Chr11:63974870 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.1501G>A (p.Gly501Ser) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV001207660] Chr11:64220625 [GRCh38]
Chr11:63988097 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.104_105delinsTA (p.Arg35Leu) indel Leukocyte adhesion deficiency 3 [RCV001215278] Chr11:64207468..64207469 [GRCh38]
Chr11:63974940..63974941 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.325G>A (p.Ala109Thr) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV001213075] Chr11:64210775 [GRCh38]
Chr11:63978247 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.1545+58C>T single nucleotide variant not provided [RCV001649254] Chr11:64220727 [GRCh38]
Chr11:63988199 [GRCh37]
Chr11:11q13.1		 benign
NM_031471.6(FERMT3):c.1374C>G (p.Ala458=) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV001429646] Chr11:64220498 [GRCh38]
Chr11:63987970 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.531G>C (p.Leu177=) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV001444936] Chr11:64211291 [GRCh38]
Chr11:63978763 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.515-5T>A single nucleotide variant Leukocyte adhesion deficiency 3 [RCV000908439]|not provided [RCV003396540] Chr11:64211270 [GRCh38]
Chr11:63978742 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.1546-6C>T single nucleotide variant Leukocyte adhesion deficiency 3 [RCV000974677] Chr11:64221010 [GRCh38]
Chr11:63988482 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.1983G>A (p.Glu661=) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV001412198] Chr11:64223483 [GRCh38]
Chr11:63990955 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.1546-5C>T single nucleotide variant Leukocyte adhesion deficiency 3 [RCV001442206] Chr11:64221011 [GRCh38]
Chr11:63988483 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.1708G>A (p.Ala570Thr) single nucleotide variant Inborn genetic diseases [RCV003160203]|Leukocyte adhesion deficiency 3 [RCV001035274] Chr11:64223085 [GRCh38]
Chr11:63990557 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.683+5A>C single nucleotide variant Leukocyte adhesion deficiency 3 [RCV001235890] Chr11:64211448 [GRCh38]
Chr11:63978920 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.308G>A (p.Arg103Gln) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV001203758] Chr11:64210758 [GRCh38]
Chr11:63978230 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.1712A>T (p.Asn571Ile) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV001227445] Chr11:64223089 [GRCh38]
Chr11:63990561 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.1808G>A (p.Arg603Gln) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV001037329] Chr11:64223185 [GRCh38]
Chr11:63990657 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.1165G>A (p.Glu389Lys) single nucleotide variant Inborn genetic diseases [RCV002555861]|Leukocyte adhesion deficiency 3 [RCV001067681] Chr11:64219976 [GRCh38]
Chr11:63987448 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.160+10C>T single nucleotide variant Leukocyte adhesion deficiency 3 [RCV000913278] Chr11:64207534 [GRCh38]
Chr11:63975006 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.369T>C (p.Ala123=) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV001417542] Chr11:64210819 [GRCh38]
Chr11:63978291 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.161-136C>T single nucleotide variant not provided [RCV001721734] Chr11:64210475 [GRCh38]
Chr11:63977947 [GRCh37]
Chr11:11q13.1		 benign
NM_031471.6(FERMT3):c.1546-148G>A single nucleotide variant not provided [RCV001721741] Chr11:64220868 [GRCh38]
Chr11:63988340 [GRCh37]
Chr11:11q13.1		 benign
NM_031471.6(FERMT3):c.862G>A (p.Glu288Lys) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV001228811] Chr11:64219326 [GRCh38]
Chr11:63986798 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.25G>A (p.Gly9Arg) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV001047380] Chr11:64207389 [GRCh38]
Chr11:63974861 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.1671-218G>A single nucleotide variant not provided [RCV001690420] Chr11:64222830 [GRCh38]
Chr11:63990302 [GRCh37]
Chr11:11q13.1		 benign
NM_031471.6(FERMT3):c.1205-51A>T single nucleotide variant not provided [RCV001616290] Chr11:64220169 [GRCh38]
Chr11:63987641 [GRCh37]
Chr11:11q13.1		 benign
NM_031471.6(FERMT3):c.1361G>A (p.Gly454Asp) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV001203893] Chr11:64220485 [GRCh38]
Chr11:63987957 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.1504C>T (p.Leu502Phe) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV001060639] Chr11:64220628 [GRCh38]
Chr11:63988100 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.516C>T (p.Gly172=) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV001230102] Chr11:64211276 [GRCh38]
Chr11:63978748 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.1301G>A (p.Arg434Gln) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV001230850] Chr11:64220316 [GRCh38]
Chr11:63987788 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.535C>T (p.Arg179Trp) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV001205840] Chr11:64211295 [GRCh38]
Chr11:63978767 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.967C>G (p.Leu323Val) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV001205366] Chr11:64219596 [GRCh38]
Chr11:63987068 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.728C>G (p.Ala243Gly) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV001232913] Chr11:64211689 [GRCh38]
Chr11:63979161 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.1231G>A (p.Val411Ile) single nucleotide variant Inborn genetic diseases [RCV002561670]|Leukocyte adhesion deficiency 3 [RCV001208136] Chr11:64220246 [GRCh38]
Chr11:63987718 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.731G>A (p.Gly244Glu) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV001048218] Chr11:64211692 [GRCh38]
Chr11:63979164 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.439AAG[1] (p.Lys148del) microsatellite Leukocyte adhesion deficiency 3 [RCV001063972] Chr11:64211094..64211096 [GRCh38]
Chr11:63978566..63978568 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.1828G>A (p.Asp610Asn) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV001064612] Chr11:64223328 [GRCh38]
Chr11:63990800 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.514+4A>G single nucleotide variant Leukocyte adhesion deficiency 3 [RCV003224512] Chr11:64211175 [GRCh38]
Chr11:63978647 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.1741G>A (p.Val581Met) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV001349622]|not specified [RCV001192941] Chr11:64223118 [GRCh38]
Chr11:63990590 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.1363C>T (p.Arg455Cys) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV001063618] Chr11:64220487 [GRCh38]
Chr11:63987959 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.1030G>T (p.Asp344Tyr) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV001341166] Chr11:64219740 [GRCh38]
Chr11:63987212 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.1873C>T (p.Arg625Ter) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV001343036] Chr11:64223373 [GRCh38]
Chr11:63990845 [GRCh37]
Chr11:11q13.1		 uncertain significance
NC_000011.9:g.(?_59596957)_(68707199_?)dup duplication Familial temporal lobe epilepsy 8 [RCV001372442] Chr11:59596957..68707199 [GRCh37]
Chr11:11q12.1-13.3		 uncertain significance
NM_031471.6(FERMT3):c.786+8G>A single nucleotide variant Leukocyte adhesion deficiency 3 [RCV001433393] Chr11:64211755 [GRCh38]
Chr11:63979227 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.1314G>A (p.Glu438=) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV001412733] Chr11:64220438 [GRCh38]
Chr11:63987910 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.894+10G>A single nucleotide variant Leukocyte adhesion deficiency 3 [RCV001413083] Chr11:64219368 [GRCh38]
Chr11:63986840 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.1884C>T (p.His628=) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV001415039] Chr11:64223384 [GRCh38]
Chr11:63990856 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.1465G>A (p.Gly489Ser) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV001359596] Chr11:64220589 [GRCh38]
Chr11:63988061 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.1707C>T (p.Ile569=) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV001414624] Chr11:64223084 [GRCh38]
Chr11:63990556 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.56G>T (p.Arg19Leu) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV001359675] Chr11:64207420 [GRCh38]
Chr11:63974892 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.560A>G (p.Asp187Gly) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV001322965] Chr11:64211320 [GRCh38]
Chr11:63978792 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.163C>A (p.Arg55Ser) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV001364980] Chr11:64210613 [GRCh38]
Chr11:63978085 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.419C>T (p.Ser140Phe) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV001301789] Chr11:64211076 [GRCh38]
Chr11:63978548 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.475G>A (p.Glu159Lys) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV001343899] Chr11:64211132 [GRCh38]
Chr11:63978604 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.1688A>G (p.Lys563Arg) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV001318908] Chr11:64223065 [GRCh38]
Chr11:63990537 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.644G>A (p.Arg215Gln) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV001322061] Chr11:64211404 [GRCh38]
Chr11:63978876 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.1445G>A (p.Gly482Asp) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV001361347] Chr11:64220569 [GRCh38]
Chr11:63988041 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.1119G>C (p.Trp373Cys) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV001338223] Chr11:64219930 [GRCh38]
Chr11:63987402 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.1375G>A (p.Asp459Asn) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV001359568] Chr11:64220499 [GRCh38]
Chr11:63987971 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.427C>T (p.Arg143Trp) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV001364266] Chr11:64211084 [GRCh38]
Chr11:63978556 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.507G>C (p.Leu169Phe) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV001315085] Chr11:64211164 [GRCh38]
Chr11:63978636 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.262G>A (p.Asp88Asn) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV001309887] Chr11:64210712 [GRCh38]
Chr11:63978184 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.706C>T (p.Leu236Phe) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV001316778] Chr11:64211667 [GRCh38]
Chr11:63979139 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.1239C>T (p.Gly413=) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV001327731] Chr11:64220254 [GRCh38]
Chr11:63987726 [GRCh37]
Chr11:11q13.1		 likely benign|uncertain significance
NM_031471.6(FERMT3):c.699G>T (p.Ser233=) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV001413757] Chr11:64211660 [GRCh38]
Chr11:63979132 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.1364G>A (p.Arg455His) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV001326690] Chr11:64220488 [GRCh38]
Chr11:63987960 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.395-10C>T single nucleotide variant Leukocyte adhesion deficiency 3 [RCV001454454] Chr11:64211042 [GRCh38]
Chr11:63978514 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.1821C>T (p.Ile607=) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV001457775] Chr11:64223321 [GRCh38]
Chr11:63990793 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.735C>T (p.Asp245=) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV001424794] Chr11:64211696 [GRCh38]
Chr11:63979168 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.1527A>C (p.Arg509=) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV001492374] Chr11:64220651 [GRCh38]
Chr11:63988123 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.1030-12G>C single nucleotide variant Leukocyte adhesion deficiency 3 [RCV001519358] Chr11:64219728 [GRCh38]
Chr11:63987200 [GRCh37]
Chr11:11q13.1		 benign
NM_031471.6(FERMT3):c.1430G>A (p.Arg477His) single nucleotide variant Inborn genetic diseases [RCV002568028]|Leukocyte adhesion deficiency 3 [RCV001515334] Chr11:64220554 [GRCh38]
Chr11:63988026 [GRCh37]
Chr11:11q13.1		 benign|uncertain significance
NM_031471.6(FERMT3):c.42G>A (p.Ser14=) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV001452225] Chr11:64207406 [GRCh38]
Chr11:63974878 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.126C>T (p.Ile42=) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV001405639] Chr11:64207490 [GRCh38]
Chr11:63974962 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.771C>T (p.Phe257=) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV001465814] Chr11:64211732 [GRCh38]
Chr11:63979204 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.1578T>C (p.Asn526=) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV001455816] Chr11:64221048 [GRCh38]
Chr11:63988520 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.683+18G>A single nucleotide variant Leukocyte adhesion deficiency 3 [RCV001467140]|not specified [RCV003388018] Chr11:64211461 [GRCh38]
Chr11:63978933 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.1236C>T (p.Ser412=) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV001398132] Chr11:64220251 [GRCh38]
Chr11:63987723 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.6G>A (p.Ala2=) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV001438241] Chr11:64207370 [GRCh38]
Chr11:63974842 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.1030-9C>G single nucleotide variant Leukocyte adhesion deficiency 3 [RCV001419797] Chr11:64219731 [GRCh38]
Chr11:63987203 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.144G>A (p.Lys48=) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV001403085] Chr11:64207508 [GRCh38]
Chr11:63974980 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.684-9G>A single nucleotide variant Leukocyte adhesion deficiency 3 [RCV001438602] Chr11:64211636 [GRCh38]
Chr11:63979108 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.144G>T (p.Lys48Asn) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV001410039] Chr11:64207508 [GRCh38]
Chr11:63974980 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.93G>A (p.Ser31=) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV001407334] Chr11:64207457 [GRCh38]
Chr11:63974929 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.1813-13G>A single nucleotide variant Leukocyte adhesion deficiency 3 [RCV001441704] Chr11:64223300 [GRCh38]
Chr11:63990772 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.684-8C>T single nucleotide variant Leukocyte adhesion deficiency 3 [RCV001403490] Chr11:64211637 [GRCh38]
Chr11:63979109 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.161-5C>T single nucleotide variant Leukocyte adhesion deficiency 3 [RCV001449343] Chr11:64210606 [GRCh38]
Chr11:63978078 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.930G>T (p.Val310=) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV001401163] Chr11:64219559 [GRCh38]
Chr11:63987031 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.1503C>T (p.Gly501=) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV001444559] Chr11:64220627 [GRCh38]
Chr11:63988099 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.1014G>A (p.Ala338=) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV001447487] Chr11:64219643 [GRCh38]
Chr11:63987115 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.1312-6G>A single nucleotide variant Leukocyte adhesion deficiency 3 [RCV001410981] Chr11:64220430 [GRCh38]
Chr11:63987902 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.1079+8G>T single nucleotide variant Leukocyte adhesion deficiency 3 [RCV001419316] Chr11:64219797 [GRCh38]
Chr11:63987269 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.432T>G (p.Ala144=) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV001447499] Chr11:64211089 [GRCh38]
Chr11:63978561 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.75G>A (p.Glu25=) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV001401523] Chr11:64207439 [GRCh38]
Chr11:63974911 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.161-6C>T single nucleotide variant Leukocyte adhesion deficiency 3 [RCV001411337] Chr11:64210605 [GRCh38]
Chr11:63978077 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.1080-5C>T single nucleotide variant Leukocyte adhesion deficiency 3 [RCV001445354]|not specified [RCV002509683] Chr11:64219886 [GRCh38]
Chr11:63987358 [GRCh37]
Chr11:11q13.1		 likely benign|uncertain significance
NM_031471.6(FERMT3):c.1449G>A (p.Pro483=) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV001518719]|not provided [RCV001597286] Chr11:64220573 [GRCh38]
Chr11:63988045 [GRCh37]
Chr11:11q13.1		 benign
NM_031471.6(FERMT3):c.1743G>T (p.Val581=) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV001450464] Chr11:64223120 [GRCh38]
Chr11:63990592 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.1914G>C (p.Ser638=) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV001515669] Chr11:64223414 [GRCh38]
Chr11:63990886 [GRCh37]
Chr11:11q13.1		 benign
NM_031471.6(FERMT3):c.120G>A (p.Ser40=) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV001451349] Chr11:64207484 [GRCh38]
Chr11:63974956 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.1584C>T (p.Ala528=) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV001491066] Chr11:64221054 [GRCh38]
Chr11:63988526 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.1095C>T (p.Thr365=) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV001458812] Chr11:64219906 [GRCh38]
Chr11:63987378 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.324C>T (p.Arg108=) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV001486684] Chr11:64210774 [GRCh38]
Chr11:63978246 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.1813-17C>T single nucleotide variant Leukocyte adhesion deficiency 3 [RCV001500430] Chr11:64223296 [GRCh38]
Chr11:63990768 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.483C>T (p.Leu161=) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV001459995] Chr11:64211140 [GRCh38]
Chr11:63978612 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.729C>T (p.Ala243=) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV001522182]|not provided [RCV001658226] Chr11:64211690 [GRCh38]
Chr11:63979162 [GRCh37]
Chr11:11q13.1		 benign
NM_031471.6(FERMT3):c.895-4C>T single nucleotide variant Leukocyte adhesion deficiency 3 [RCV001522183]|not provided [RCV001720294] Chr11:64219520 [GRCh38]
Chr11:63986992 [GRCh37]
Chr11:11q13.1		 benign
NM_031471.6(FERMT3):c.1635C>G (p.Ser545=) single nucleotide variant FERMT3-related condition [RCV003930915]|Leukocyte adhesion deficiency 3 [RCV001428452] Chr11:64221105 [GRCh38]
Chr11:63988577 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.912G>T (p.Leu304=) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV001473163] Chr11:64219541 [GRCh38]
Chr11:63987013 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.786+7C>T single nucleotide variant Leukocyte adhesion deficiency 3 [RCV001486240] Chr11:64211754 [GRCh38]
Chr11:63979226 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.1050A>G (p.Pro350=) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV001406112] Chr11:64219760 [GRCh38]
Chr11:63987232 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.1047C>A (p.Ile349=) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV001480035] Chr11:64219757 [GRCh38]
Chr11:63987229 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.1312-7C>T single nucleotide variant Leukocyte adhesion deficiency 3 [RCV001462776] Chr11:64220429 [GRCh38]
Chr11:63987901 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.264C>T (p.Asp88=) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV001491523] Chr11:64210714 [GRCh38]
Chr11:63978186 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.161-11G>A single nucleotide variant Leukocyte adhesion deficiency 3 [RCV001519095] Chr11:64210600 [GRCh38]
Chr11:63978072 [GRCh37]
Chr11:11q13.1		 benign
NM_031471.6(FERMT3):c.885C>T (p.Ala295=) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV001482354] Chr11:64219349 [GRCh38]
Chr11:63986821 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.1813-15_1813-14del microsatellite Leukocyte adhesion deficiency 3 [RCV001521408] Chr11:64223296..64223297 [GRCh38]
Chr11:63990768..63990769 [GRCh37]
Chr11:11q13.1		 benign
NM_031471.6(FERMT3):c.1269C>A (p.Pro423=) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV001440572] Chr11:64220284 [GRCh38]
Chr11:63987756 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.895-19T>C single nucleotide variant Leukocyte adhesion deficiency 3 [RCV001463405] Chr11:64219505 [GRCh38]
Chr11:63986977 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.683+20C>T single nucleotide variant Leukocyte adhesion deficiency 3 [RCV001426406] Chr11:64211463 [GRCh38]
Chr11:63978935 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.1671-15C>G single nucleotide variant Leukocyte adhesion deficiency 3 [RCV001515818]|not provided [RCV001720291] Chr11:64223033 [GRCh38]
Chr11:63990505 [GRCh37]
Chr11:11q13.1		 benign
NM_031471.6(FERMT3):c.421C>T (p.Leu141=) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV001424565] Chr11:64211078 [GRCh38]
Chr11:63978550 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.795C>T (p.Pro265=) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV001424882] Chr11:64219259 [GRCh38]
Chr11:63986731 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.787-7G>A single nucleotide variant Leukocyte adhesion deficiency 3 [RCV001505836] Chr11:64219244 [GRCh38]
Chr11:63986716 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.921del (p.Ser307fs) deletion Leukocyte adhesion deficiency 3 [RCV002248304] Chr11:64219550 [GRCh38]
Chr11:63987022 [GRCh37]
Chr11:11q13.1		 pathogenic
NM_031471.6(FERMT3):c.2T>C (p.Met1Thr) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV001781098] Chr11:64207366 [GRCh38]
Chr11:63974838 [GRCh37]
Chr11:11q13.1		 likely pathogenic
NM_031471.6(FERMT3):c.521C>T (p.Ala174Val) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV002024987] Chr11:64211281 [GRCh38]
Chr11:63978753 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.1650C>T (p.Gly550=) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV002044785] Chr11:64221120 [GRCh38]
Chr11:63988592 [GRCh37]
Chr11:11q13.1		 likely benign|uncertain significance
NM_031471.6(FERMT3):c.389T>G (p.Leu130Arg) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV001988034] Chr11:64210839 [GRCh38]
Chr11:63978311 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.1642G>A (p.Asp548Asn) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV001928803] Chr11:64221112 [GRCh38]
Chr11:63988584 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.1916C>T (p.Thr639Met) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV002025199] Chr11:64223416 [GRCh38]
Chr11:63990888 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.28G>A (p.Asp10Asn) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV001971705] Chr11:64207392 [GRCh38]
Chr11:63974864 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.275T>G (p.Phe92Cys) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV001910957] Chr11:64210725 [GRCh38]
Chr11:63978197 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.886G>A (p.Ala296Thr) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV002005232] Chr11:64219350 [GRCh38]
Chr11:63986822 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.1545+5C>T single nucleotide variant Leukocyte adhesion deficiency 3 [RCV001870832] Chr11:64220674 [GRCh38]
Chr11:63988146 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.939G>A (p.Pro313=) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV002005927] Chr11:64219568 [GRCh38]
Chr11:63987040 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.765C>A (p.Ser255Arg) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV001965807] Chr11:64211726 [GRCh38]
Chr11:63979198 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.894+9C>T single nucleotide variant Leukocyte adhesion deficiency 3 [RCV001892985] Chr11:64219367 [GRCh38]
Chr11:63986839 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.787-8C>A single nucleotide variant Leukocyte adhesion deficiency 3 [RCV002024307] Chr11:64219243 [GRCh38]
Chr11:63986715 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.1819A>G (p.Ile607Val) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV002024317] Chr11:64223319 [GRCh38]
Chr11:63990791 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.1013C>T (p.Ala338Val) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV001913979] Chr11:64219642 [GRCh38]
Chr11:63987114 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.1867A>G (p.Ser623Gly) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV001946060] Chr11:64223367 [GRCh38]
Chr11:63990839 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.1516C>A (p.Arg506Ser) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV002007908]|not provided [RCV002293546] Chr11:64220640 [GRCh38]
Chr11:63988112 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.540del (p.Met181fs) deletion Leukocyte adhesion deficiency 3 [RCV002002460] Chr11:64211296 [GRCh38]
Chr11:63978768 [GRCh37]
Chr11:11q13.1		 pathogenic
NM_031471.6(FERMT3):c.1104C>G (p.Gly368=) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV002003633] Chr11:64219915 [GRCh38]
Chr11:63987387 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.409G>A (p.Glu137Lys) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV002021783] Chr11:64211066 [GRCh38]
Chr11:63978538 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.1931G>C (p.Arg644Pro) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV002043640] Chr11:64223431 [GRCh38]
Chr11:63990903 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.1545+12C>T single nucleotide variant Leukocyte adhesion deficiency 3 [RCV001890733] Chr11:64220681 [GRCh38]
Chr11:63988153 [GRCh37]
Chr11:11q13.1		 likely benign|uncertain significance
NM_031471.6(FERMT3):c.827G>A (p.Arg276Gln) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV001924355] Chr11:64219291 [GRCh38]
Chr11:63986763 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.445G>A (p.Glu149Lys) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV001963336] Chr11:64211102 [GRCh38]
Chr11:63978574 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.1471G>C (p.Asp491His) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV002038205] Chr11:64220595 [GRCh38]
Chr11:63988067 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.902T>C (p.Ile301Thr) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV002037302] Chr11:64219531 [GRCh38]
Chr11:63987003 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.1866C>T (p.Ala622=) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV002000130] Chr11:64223366 [GRCh38]
Chr11:63990838 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.1247T>G (p.Phe416Cys) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV002039228] Chr11:64220262 [GRCh38]
Chr11:63987734 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.1715A>G (p.Asn572Ser) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV001981734] Chr11:64223092 [GRCh38]
Chr11:63990564 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.613C>A (p.Pro205Thr) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV001989830] Chr11:64211373 [GRCh38]
Chr11:63978845 [GRCh37]
Chr11:11q13.1		 uncertain significance
NC_000011.9:g.(?_63974837)_(63990964_?)dup duplication Leukocyte adhesion deficiency 3 [RCV001992522] Chr11:63974837..63990964 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.724A>G (p.Lys242Glu) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV002032084] Chr11:64211685 [GRCh38]
Chr11:63979157 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.698C>T (p.Ser233Leu) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV001954359] Chr11:64211659 [GRCh38]
Chr11:63979131 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.790G>C (p.Asp264His) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV001931893] Chr11:64219254 [GRCh38]
Chr11:63986726 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.481C>G (p.Leu161Val) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV001898721] Chr11:64211138 [GRCh38]
Chr11:63978610 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.938C>T (p.Pro313Leu) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV001930578] Chr11:64219567 [GRCh38]
Chr11:63987039 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.598C>T (p.Arg200Trp) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV002036081] Chr11:64211358 [GRCh38]
Chr11:63978830 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.1546-12A>G single nucleotide variant Leukocyte adhesion deficiency 3 [RCV001919221] Chr11:64221004 [GRCh38]
Chr11:63988476 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.1904T>A (p.Ile635Asn) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV002029644] Chr11:64223404 [GRCh38]
Chr11:63990876 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.1516C>T (p.Arg506Cys) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV001917986] Chr11:64220640 [GRCh38]
Chr11:63988112 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.1726C>T (p.Arg576Cys) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV001876485] Chr11:64223103 [GRCh38]
Chr11:63990575 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.74A>G (p.Glu25Gly) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV001932683] Chr11:64207438 [GRCh38]
Chr11:63974910 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.52C>G (p.Leu18Val) single nucleotide variant Inborn genetic diseases [RCV003355600]|Leukocyte adhesion deficiency 3 [RCV001885921] Chr11:64207416 [GRCh38]
Chr11:63974888 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.1108C>T (p.Arg370Cys) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV002026233] Chr11:64219919 [GRCh38]
Chr11:63987391 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.1439G>C (p.Ser480Thr) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV001921115] Chr11:64220563 [GRCh38]
Chr11:63988035 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.27G>T (p.Gly9=) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV002017392] Chr11:64207391 [GRCh38]
Chr11:63974863 [GRCh37]
Chr11:11q13.1		 likely benign|uncertain significance
NM_031471.6(FERMT3):c.113G>C (p.Gly38Ala) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV002046545] Chr11:64207477 [GRCh38]
Chr11:63974949 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.1042A>G (p.Thr348Ala) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV002034448] Chr11:64219752 [GRCh38]
Chr11:63987224 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.37G>A (p.Asp13Asn) single nucleotide variant Inborn genetic diseases [RCV002579597]|Leukocyte adhesion deficiency 3 [RCV001998846] Chr11:64207401 [GRCh38]
Chr11:63974873 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.772G>A (p.Asp258Asn) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV001907403] Chr11:64211733 [GRCh38]
Chr11:63979205 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.599G>A (p.Arg200Gln) single nucleotide variant Inborn genetic diseases [RCV002563553]|Leukocyte adhesion deficiency 3 [RCV001997556] Chr11:64211359 [GRCh38]
Chr11:63978831 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.719G>A (p.Gly240Asp) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV002026208] Chr11:64211680 [GRCh38]
Chr11:63979152 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.644G>T (p.Arg215Leu) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV001933050] Chr11:64211404 [GRCh38]
Chr11:63978876 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.500T>C (p.Val167Ala) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV001978998] Chr11:64211157 [GRCh38]
Chr11:63978629 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.1497C>G (p.Pro499=) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV001883023] Chr11:64220621 [GRCh38]
Chr11:63988093 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.307C>T (p.Arg103Trp) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV002050897] Chr11:64210757 [GRCh38]
Chr11:63978229 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.1746C>T (p.Gly582=) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV001875713] Chr11:64223123 [GRCh38]
Chr11:63990595 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.479A>T (p.Glu160Val) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV002050296] Chr11:64211136 [GRCh38]
Chr11:63978608 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.435T>C (p.Pro145=) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV002188618] Chr11:64211092 [GRCh38]
Chr11:63978564 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.552C>T (p.His184=) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV002146850] Chr11:64211312 [GRCh38]
Chr11:63978784 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.1192C>T (p.Leu398Phe) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV002091230] Chr11:64220003 [GRCh38]
Chr11:63987475 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.1842T>C (p.Asn614=) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV002185152] Chr11:64223342 [GRCh38]
Chr11:63990814 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.1260C>T (p.Leu420=) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV002147261] Chr11:64220275 [GRCh38]
Chr11:63987747 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.1671-14T>C single nucleotide variant Leukocyte adhesion deficiency 3 [RCV002188138] Chr11:64223034 [GRCh38]
Chr11:63990506 [GRCh37]
Chr11:11q13.1		 benign
NM_031471.6(FERMT3):c.1251C>T (p.Cys417=) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV002090932] Chr11:64220266 [GRCh38]
Chr11:63987738 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.1670+10C>T single nucleotide variant Leukocyte adhesion deficiency 3 [RCV002168739] Chr11:64221150 [GRCh38]
Chr11:63988622 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.1812+12C>T single nucleotide variant Leukocyte adhesion deficiency 3 [RCV002165630] Chr11:64223201 [GRCh38]
Chr11:63990673 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.1205-16C>T single nucleotide variant Leukocyte adhesion deficiency 3 [RCV002192044] Chr11:64220204 [GRCh38]
Chr11:63987676 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.1029+14C>T single nucleotide variant Leukocyte adhesion deficiency 3 [RCV002073646] Chr11:64219672 [GRCh38]
Chr11:63987144 [GRCh37]
Chr11:11q13.1		 benign
NM_031471.6(FERMT3):c.657G>A (p.Leu219=) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV002192531] Chr11:64211417 [GRCh38]
Chr11:63978889 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.1545+13G>A single nucleotide variant Leukocyte adhesion deficiency 3 [RCV002207216] Chr11:64220682 [GRCh38]
Chr11:63988154 [GRCh37]
Chr11:11q13.1		 benign
NM_031471.6(FERMT3):c.1080-17C>T single nucleotide variant Leukocyte adhesion deficiency 3 [RCV002091444] Chr11:64219874 [GRCh38]
Chr11:63987346 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.1030-20T>C single nucleotide variant Leukocyte adhesion deficiency 3 [RCV002206805] Chr11:64219720 [GRCh38]
Chr11:63987192 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.787-8dup duplication Leukocyte adhesion deficiency 3 [RCV002124954] Chr11:64219237..64219238 [GRCh38]
Chr11:63986709..63986710 [GRCh37]
Chr11:11q13.1		 benign
NM_031471.6(FERMT3):c.642A>G (p.Pro214=) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV002208183] Chr11:64211402 [GRCh38]
Chr11:63978874 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.1029+18G>A single nucleotide variant Leukocyte adhesion deficiency 3 [RCV002146542] Chr11:64219676 [GRCh38]
Chr11:63987148 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.889C>T (p.Leu297=) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV002080912] Chr11:64219353 [GRCh38]
Chr11:63986825 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.129C>T (p.Gly43=) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV002079183] Chr11:64207493 [GRCh38]
Chr11:63974965 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.1221C>T (p.Pro407=) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV002095748] Chr11:64220236 [GRCh38]
Chr11:63987708 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.1647C>T (p.Phe549=) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV002117246] Chr11:64221117 [GRCh38]
Chr11:63988589 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.1080-15C>T single nucleotide variant Leukocyte adhesion deficiency 3 [RCV002193270] Chr11:64219876 [GRCh38]
Chr11:63987348 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.1609C>T (p.Leu537=) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV002094767] Chr11:64221079 [GRCh38]
Chr11:63988551 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.683+17C>G single nucleotide variant Leukocyte adhesion deficiency 3 [RCV002212508] Chr11:64211460 [GRCh38]
Chr11:63978932 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.1896G>A (p.Gly632=) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV002153326] Chr11:64223396 [GRCh38]
Chr11:63990868 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.700C>A (p.Arg234=) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV002174870] Chr11:64211661 [GRCh38]
Chr11:63979133 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.683+19C>G single nucleotide variant Leukocyte adhesion deficiency 3 [RCV002113236] Chr11:64211462 [GRCh38]
Chr11:63978934 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.894+16G>A single nucleotide variant Leukocyte adhesion deficiency 3 [RCV002081105] Chr11:64219374 [GRCh38]
Chr11:63986846 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.1749C>T (p.Asp583=) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV002171988] Chr11:64223126 [GRCh38]
Chr11:63990598 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.787-9C>T single nucleotide variant Leukocyte adhesion deficiency 3 [RCV002188123] Chr11:64219242 [GRCh38]
Chr11:63986714 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.756G>A (p.Lys252=) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV002084728] Chr11:64211717 [GRCh38]
Chr11:63979189 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.138C>G (p.Leu46=) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV002211764] Chr11:64207502 [GRCh38]
Chr11:63974974 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.787-8C>G single nucleotide variant Leukocyte adhesion deficiency 3 [RCV002076340] Chr11:64219243 [GRCh38]
Chr11:63986715 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.160+11G>A single nucleotide variant Leukocyte adhesion deficiency 3 [RCV002174303] Chr11:64207535 [GRCh38]
Chr11:63975007 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.1029+19C>G single nucleotide variant Leukocyte adhesion deficiency 3 [RCV002092957] Chr11:64219677 [GRCh38]
Chr11:63987149 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.787-8del deletion Leukocyte adhesion deficiency 3 [RCV002132847] Chr11:64219238 [GRCh38]
Chr11:63986710 [GRCh37]
Chr11:11q13.1		 benign
NM_031471.6(FERMT3):c.219G>A (p.Leu73=) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV002176364] Chr11:64210669 [GRCh38]
Chr11:63978141 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.1389C>T (p.Thr463=) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV002163955] Chr11:64220513 [GRCh38]
Chr11:63987985 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.1362C>G (p.Gly454=) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV002161134] Chr11:64220486 [GRCh38]
Chr11:63987958 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.160+17C>G single nucleotide variant Leukocyte adhesion deficiency 3 [RCV002121559] Chr11:64207541 [GRCh38]
Chr11:63975013 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.891G>A (p.Leu297=) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV002158485] Chr11:64219355 [GRCh38]
Chr11:63986827 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.1812+18G>A single nucleotide variant Leukocyte adhesion deficiency 3 [RCV002217360] Chr11:64223207 [GRCh38]
Chr11:63990679 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.394+12G>A single nucleotide variant Leukocyte adhesion deficiency 3 [RCV002160198] Chr11:64210856 [GRCh38]
Chr11:63978328 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.702G>A (p.Arg234=) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV002198942] Chr11:64211663 [GRCh38]
Chr11:63979135 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.1205-7C>T single nucleotide variant Leukocyte adhesion deficiency 3 [RCV002177401] Chr11:64220213 [GRCh38]
Chr11:63987685 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.787-12C>T single nucleotide variant Leukocyte adhesion deficiency 3 [RCV002140982] Chr11:64219239 [GRCh38]
Chr11:63986711 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.429G>C (p.Arg143=) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV002220969] Chr11:64211086 [GRCh38]
Chr11:63978558 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.24C>T (p.Ser8=) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV002160260] Chr11:64207388 [GRCh38]
Chr11:63974860 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.1374C>T (p.Ala458=) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV002184014] Chr11:64220498 [GRCh38]
Chr11:63987970 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.1731C>T (p.Ile577=) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV002155163] Chr11:64223108 [GRCh38]
Chr11:63990580 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.161-12C>T single nucleotide variant Leukocyte adhesion deficiency 3 [RCV002122297] Chr11:64210599 [GRCh38]
Chr11:63978071 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.1311+9G>A single nucleotide variant Leukocyte adhesion deficiency 3 [RCV002177131] Chr11:64220335 [GRCh38]
Chr11:63987807 [GRCh37]
Chr11:11q13.1		 likely benign
NC_000011.9:g.(?_58916346)_(64972349_?)dup duplication Leukocyte adhesion deficiency 3 [RCV003113394]|not provided [RCV003113393] Chr11:58916346..64972349 [GRCh37]
Chr11:11q12.1-13.1		 uncertain significance|no classifications from unflagged records
NM_031471.6(FERMT3):c.894+20G>A single nucleotide variant Leukocyte adhesion deficiency 3 [RCV003121567] Chr11:64219378 [GRCh38]
Chr11:63986850 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.1725C>A (p.Ile575=) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV003118881] Chr11:64223102 [GRCh38]
Chr11:63990574 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.450G>C (p.Lys150Asn) single nucleotide variant Inborn genetic diseases [RCV003294863] Chr11:64211107 [GRCh38]
Chr11:63978579 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.1613G>A (p.Arg538His) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV003101463]|not provided [RCV002261922] Chr11:64221083 [GRCh38]
Chr11:63988555 [GRCh37]
Chr11:11q13.1		 uncertain significance
GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3 copy number gain MISSED ABORTION [RCV002282973] Chr11:32799481..134938470 [GRCh37]
Chr11:11p13-q25		 pathogenic
NM_031471.6(FERMT3):c.1433C>A (p.Thr478Lys) single nucleotide variant Inborn genetic diseases [RCV002837055] Chr11:64220557 [GRCh38]
Chr11:63988029 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.619C>G (p.Pro207Ala) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV002904265] Chr11:64211379 [GRCh38]
Chr11:63978851 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.1612C>T (p.Arg538Cys) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV002995703] Chr11:64221082 [GRCh38]
Chr11:63988554 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.213G>C (p.Gln71His) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV002730065] Chr11:64210663 [GRCh38]
Chr11:63978135 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.1311+6T>G single nucleotide variant Leukocyte adhesion deficiency 3 [RCV002862234] Chr11:64220332 [GRCh38]
Chr11:63987804 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.684-1G>A single nucleotide variant Leukocyte adhesion deficiency 3 [RCV002970954] Chr11:64211644 [GRCh38]
Chr11:63979116 [GRCh37]
Chr11:11q13.1		 likely pathogenic
NM_031471.6(FERMT3):c.1907T>A (p.Phe636Tyr) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV002861685] Chr11:64223407 [GRCh38]
Chr11:63990879 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.1187A>G (p.Gln396Arg) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV002794909] Chr11:64219998 [GRCh38]
Chr11:63987470 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.1392C>T (p.Ser464=) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV002615826] Chr11:64220516 [GRCh38]
Chr11:63987988 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.1917_1918delinsAG (p.Arg640Gly) indel Leukocyte adhesion deficiency 3 [RCV002731160] Chr11:64223417..64223418 [GRCh38]
Chr11:63990889..63990890 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.515-10T>G single nucleotide variant Leukocyte adhesion deficiency 3 [RCV003017420] Chr11:64211265 [GRCh38]
Chr11:63978737 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.894+9C>A single nucleotide variant Leukocyte adhesion deficiency 3 [RCV002593346] Chr11:64219367 [GRCh38]
Chr11:63986839 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.1913C>A (p.Ser638Ter) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV003055386] Chr11:64223413 [GRCh38]
Chr11:63990885 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.1222G>A (p.Asp408Asn) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV002761680] Chr11:64220237 [GRCh38]
Chr11:63987709 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.351C>G (p.Ser117=) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV003055687] Chr11:64210801 [GRCh38]
Chr11:63978273 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.1512C>T (p.Ala504=) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV002800103] Chr11:64220636 [GRCh38]
Chr11:63988108 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.385C>T (p.Arg129Cys) single nucleotide variant Inborn genetic diseases [RCV002925158] Chr11:64210835 [GRCh38]
Chr11:63978307 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.1718G>A (p.Arg573Gln) single nucleotide variant Inborn genetic diseases [RCV002591640]|Leukocyte adhesion deficiency 3 [RCV002591639] Chr11:64223095 [GRCh38]
Chr11:63990567 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.1030-16T>G single nucleotide variant Leukocyte adhesion deficiency 3 [RCV003018133] Chr11:64219724 [GRCh38]
Chr11:63987196 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.124A>G (p.Ile42Val) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV002591417] Chr11:64207488 [GRCh38]
Chr11:63974960 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.392T>G (p.Leu131Arg) single nucleotide variant Inborn genetic diseases [RCV002887007] Chr11:64210842 [GRCh38]
Chr11:63978314 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.826C>T (p.Arg276Trp) single nucleotide variant Inborn genetic diseases [RCV002925461] Chr11:64219290 [GRCh38]
Chr11:63986762 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.485A>G (p.Tyr162Cys) single nucleotide variant Inborn genetic diseases [RCV002911862] Chr11:64211142 [GRCh38]
Chr11:63978614 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.964G>A (p.Asp322Asn) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV003080640] Chr11:64219593 [GRCh38]
Chr11:63987065 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.1670+19C>A single nucleotide variant Leukocyte adhesion deficiency 3 [RCV003100519] Chr11:64221159 [GRCh38]
Chr11:63988631 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.1813G>A (p.Val605Met) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV002591036] Chr11:64223313 [GRCh38]
Chr11:63990785 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.514+15G>A single nucleotide variant Leukocyte adhesion deficiency 3 [RCV002596691] Chr11:64211186 [GRCh38]
Chr11:63978658 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.847_853del (p.Glu283fs) deletion Leukocyte adhesion deficiency 3 [RCV002852944] Chr11:64219310..64219316 [GRCh38]
Chr11:63986782..63986788 [GRCh37]
Chr11:11q13.1		 pathogenic
NM_031471.6(FERMT3):c.544C>T (p.Pro182Ser) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV003007636] Chr11:64211304 [GRCh38]
Chr11:63978776 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.2T>G (p.Met1Arg) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV002597377] Chr11:64207366 [GRCh38]
Chr11:63974838 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.46T>C (p.Trp16Arg) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV003023498] Chr11:64207410 [GRCh38]
Chr11:63974882 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.1352C>G (p.Ala451Gly) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV002805901] Chr11:64220476 [GRCh38]
Chr11:63987948 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.161-20T>C single nucleotide variant Leukocyte adhesion deficiency 3 [RCV002932557] Chr11:64210591 [GRCh38]
Chr11:63978063 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.749G>T (p.Arg250Leu) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV002790814] Chr11:64211710 [GRCh38]
Chr11:63979182 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.1202A>C (p.Lys401Thr) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV003006073] Chr11:64220013 [GRCh38]
Chr11:63987485 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.1701G>A (p.Leu567=) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV002851969] Chr11:64223078 [GRCh38]
Chr11:63990550 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.420C>T (p.Ser140=) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV003083239] Chr11:64211077 [GRCh38]
Chr11:63978549 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.1766G>T (p.Arg589Leu) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV002828460] Chr11:64223143 [GRCh38]
Chr11:63990615 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.1740C>T (p.Ala580=) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV003083529] Chr11:64223117 [GRCh38]
Chr11:63990589 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.155A>G (p.Gln52Arg) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV003040292] Chr11:64207519 [GRCh38]
Chr11:63974991 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.843G>A (p.Leu281=) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV002850875] Chr11:64219307 [GRCh38]
Chr11:63986779 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.609G>A (p.Pro203=) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV002700216] Chr11:64211369 [GRCh38]
Chr11:63978841 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.1894G>A (p.Gly632Arg) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV003005725] Chr11:64223394 [GRCh38]
Chr11:63990866 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.394+11C>T single nucleotide variant Leukocyte adhesion deficiency 3 [RCV003004947] Chr11:64210855 [GRCh38]
Chr11:63978327 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.737C>T (p.Ala246Val) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV002790984] Chr11:64211698 [GRCh38]
Chr11:63979170 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.1977C>T (p.Gly659=) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV002595978] Chr11:64223477 [GRCh38]
Chr11:63990949 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.1360G>A (p.Gly454Ser) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV003031774] Chr11:64220484 [GRCh38]
Chr11:63987956 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.786+18G>A single nucleotide variant Leukocyte adhesion deficiency 3 [RCV003065795] Chr11:64211765 [GRCh38]
Chr11:63979237 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.1205-3C>T single nucleotide variant Leukocyte adhesion deficiency 3 [RCV002630246] Chr11:64220217 [GRCh38]
Chr11:63987689 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.1483G>A (p.Glu495Lys) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV003091071] Chr11:64220607 [GRCh38]
Chr11:63988079 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.1077T>G (p.Phe359Leu) single nucleotide variant Inborn genetic diseases [RCV002633098]|Leukocyte adhesion deficiency 3 [RCV002633097] Chr11:64219787 [GRCh38]
Chr11:63987259 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.45A>G (p.Ser15=) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV003091338] Chr11:64207409 [GRCh38]
Chr11:63974881 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.107T>C (p.Val36Ala) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV003028000] Chr11:64207471 [GRCh38]
Chr11:63974943 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.834C>T (p.Asp278=) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV003043959] Chr11:64219298 [GRCh38]
Chr11:63986770 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.1070G>A (p.Arg357Gln) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV002715156] Chr11:64219780 [GRCh38]
Chr11:63987252 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.748C>T (p.Arg250Cys) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV002630230] Chr11:64211709 [GRCh38]
Chr11:63979181 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.1164C>T (p.Asp388=) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV002933590] Chr11:64219975 [GRCh38]
Chr11:63987447 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.1566A>T (p.Glu522Asp) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV003009906] Chr11:64221036 [GRCh38]
Chr11:63988508 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.431C>G (p.Ala144Gly) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV002717033] Chr11:64211088 [GRCh38]
Chr11:63978560 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.1011G>A (p.Ser337=) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV002716649] Chr11:64219640 [GRCh38]
Chr11:63987112 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.1812+13C>A single nucleotide variant Leukocyte adhesion deficiency 3 [RCV002857413] Chr11:64223202 [GRCh38]
Chr11:63990674 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.323G>A (p.Arg108His) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV002938782] Chr11:64210773 [GRCh38]
Chr11:63978245 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.1572C>A (p.His524Gln) single nucleotide variant Inborn genetic diseases [RCV002836143] Chr11:64221042 [GRCh38]
Chr11:63988514 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.1634C>T (p.Ser545Phe) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV002810914] Chr11:64221104 [GRCh38]
Chr11:63988576 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.1887G>C (p.Glu629Asp) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV003090042] Chr11:64223387 [GRCh38]
Chr11:63990859 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.265G>A (p.Ala89Thr) single nucleotide variant Inborn genetic diseases [RCV002960174] Chr11:64210715 [GRCh38]
Chr11:63978187 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.643C>T (p.Arg215Trp) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV002988796] Chr11:64211403 [GRCh38]
Chr11:63978875 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.1029+6G>T single nucleotide variant Leukocyte adhesion deficiency 3 [RCV003060248] Chr11:64219664 [GRCh38]
Chr11:63987136 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.1170C>G (p.Ala390=) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV002671381] Chr11:64219981 [GRCh38]
Chr11:63987453 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.514+20G>A single nucleotide variant Leukocyte adhesion deficiency 3 [RCV003089691] Chr11:64211191 [GRCh38]
Chr11:63978663 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.1596G>A (p.Leu532=) single nucleotide variant FERMT3-related condition [RCV003953842]|Leukocyte adhesion deficiency 3 [RCV003064887] Chr11:64221066 [GRCh38]
Chr11:63988538 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.1979A>G (p.His660Arg) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV002671077] Chr11:64223479 [GRCh38]
Chr11:63990951 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.1448C>G (p.Pro483Arg) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV003045544] Chr11:64220572 [GRCh38]
Chr11:63988044 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.700C>T (p.Arg234Trp) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV002600399] Chr11:64211661 [GRCh38]
Chr11:63979133 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.1128C>T (p.Phe376=) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV002720411] Chr11:64219939 [GRCh38]
Chr11:63987411 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.164G>A (p.Arg55His) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV003068832] Chr11:64210614 [GRCh38]
Chr11:63978086 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.749G>A (p.Arg250His) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV002725851] Chr11:64211710 [GRCh38]
Chr11:63979182 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.1732G>A (p.Asp578Asn) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV002635777] Chr11:64223109 [GRCh38]
Chr11:63990581 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.984C>A (p.Ser328Arg) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV002634624] Chr11:64219613 [GRCh38]
Chr11:63987085 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.313C>T (p.Pro105Ser) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV002653045] Chr11:64210763 [GRCh38]
Chr11:63978235 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.1029+11G>C single nucleotide variant Leukocyte adhesion deficiency 3 [RCV002605444] Chr11:64219669 [GRCh38]
Chr11:63987141 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.1908C>T (p.Phe636=) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV003092926] Chr11:64223408 [GRCh38]
Chr11:63990880 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.1807C>T (p.Arg603Trp) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV002607269] Chr11:64223184 [GRCh38]
Chr11:63990656 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.1029+20A>G single nucleotide variant Leukocyte adhesion deficiency 3 [RCV002583227] Chr11:64219678 [GRCh38]
Chr11:63987150 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.1889A>G (p.Tyr630Cys) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV003066611] Chr11:64223389 [GRCh38]
Chr11:63990861 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.1545+14T>C single nucleotide variant Leukocyte adhesion deficiency 3 [RCV003052685] Chr11:64220683 [GRCh38]
Chr11:63988155 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.534C>T (p.Phe178=) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV002608926] Chr11:64211294 [GRCh38]
Chr11:63978766 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.1080-16C>G single nucleotide variant Leukocyte adhesion deficiency 3 [RCV003051331] Chr11:64219875 [GRCh38]
Chr11:63987347 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.1857C>T (p.Cys619=) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV002607812] Chr11:64223357 [GRCh38]
Chr11:63990829 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.730G>A (p.Gly244Arg) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV002589070] Chr11:64211691 [GRCh38]
Chr11:63979163 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.394+19T>G single nucleotide variant Leukocyte adhesion deficiency 3 [RCV002585553] Chr11:64210863 [GRCh38]
Chr11:63978335 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.444G>C (p.Lys148Asn) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV002814996] Chr11:64211101 [GRCh38]
Chr11:63978573 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.930G>A (p.Val310=) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV002943097] Chr11:64219559 [GRCh38]
Chr11:63987031 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.1429C>T (p.Arg477Cys) single nucleotide variant Inborn genetic diseases [RCV003200315] Chr11:64220553 [GRCh38]
Chr11:63988025 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.701G>A (p.Arg234Gln) single nucleotide variant Inborn genetic diseases [RCV003198920] Chr11:64211662 [GRCh38]
Chr11:63979134 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.1225G>A (p.Val409Ile) single nucleotide variant Inborn genetic diseases [RCV003195808] Chr11:64220240 [GRCh38]
Chr11:63987712 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.287A>G (p.Gln96Arg) single nucleotide variant Inborn genetic diseases [RCV003260819] Chr11:64210737 [GRCh38]
Chr11:63978209 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.1601_1602del (p.Glu534fs) microsatellite Leukocyte adhesion deficiency 3 [RCV003335907] Chr11:64221069..64221070 [GRCh38]
Chr11:63988541..63988542 [GRCh37]
Chr11:11q13.1		 pathogenic
NM_031471.6(FERMT3):c.1312-13C>T single nucleotide variant Leukocyte adhesion deficiency 3 [RCV003875420] Chr11:64220423 [GRCh38]
Chr11:63987895 [GRCh37]
Chr11:11q13.1		 likely benign
GRCh37/hg19 11q13.1(chr11:63643711-64533636)x1 copy number loss not provided [RCV003483125] Chr11:63643711..64533636 [GRCh37]
Chr11:11q13.1		 uncertain significance
GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3 copy number gain not provided [RCV003484842] Chr11:59923608..76272324 [GRCh37]
Chr11:11q12.2-13.5		 pathogenic
NM_031471.6(FERMT3):c.1918C>A (p.Arg640=) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV003880340] Chr11:64223418 [GRCh38]
Chr11:63990890 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.1620C>T (p.Ile540=) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV003605897] Chr11:64221090 [GRCh38]
Chr11:63988562 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.1686G>A (p.Arg562=) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV003606229] Chr11:64223063 [GRCh38]
Chr11:63990535 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.1080-18C>A single nucleotide variant Leukocyte adhesion deficiency 3 [RCV003606491] Chr11:64219873 [GRCh38]
Chr11:63987345 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.514+17G>A single nucleotide variant Leukocyte adhesion deficiency 3 [RCV003606695] Chr11:64211188 [GRCh38]
Chr11:63978660 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.9G>A (p.Gly3=) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV003606959] Chr11:64207373 [GRCh38]
Chr11:63974845 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.1593G>T (p.Ser531=) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV003605361] Chr11:64221063 [GRCh38]
Chr11:63988535 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.1593G>A (p.Ser531=) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV003606833] Chr11:64221063 [GRCh38]
Chr11:63988535 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.1747G>A (p.Asp583Asn) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV003606835] Chr11:64223124 [GRCh38]
Chr11:63990596 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.564C>T (p.Ser188=) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV003606838] Chr11:64211324 [GRCh38]
Chr11:63978796 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.161-16C>T single nucleotide variant Leukocyte adhesion deficiency 3 [RCV003606849] Chr11:64210595 [GRCh38]
Chr11:63978067 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.1454A>G (p.Asn485Ser) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV003876797] Chr11:64220578 [GRCh38]
Chr11:63988050 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.1839C>T (p.Ile613=) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV003606436] Chr11:64223339 [GRCh38]
Chr11:63990811 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.895-5C>T single nucleotide variant Leukocyte adhesion deficiency 3 [RCV003606623] Chr11:64219519 [GRCh38]
Chr11:63986991 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.1030-12G>A single nucleotide variant Leukocyte adhesion deficiency 3 [RCV003606705] Chr11:64219728 [GRCh38]
Chr11:63987200 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.515-7A>T single nucleotide variant Leukocyte adhesion deficiency 3 [RCV003606066] Chr11:64211268 [GRCh38]
Chr11:63978740 [GRCh37]
Chr11:11q13.1		 benign
NM_031471.6(FERMT3):c.111T>C (p.Thr37=) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV003606680] Chr11:64207475 [GRCh38]
Chr11:63974947 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.1545+17G>C single nucleotide variant Leukocyte adhesion deficiency 3 [RCV003606743] Chr11:64220686 [GRCh38]
Chr11:63988158 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.258G>A (p.Leu86=) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV003606765] Chr11:64210708 [GRCh38]
Chr11:63978180 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.36C>T (p.Ile12=) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV003606786] Chr11:64207400 [GRCh38]
Chr11:63974872 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.357C>T (p.Pro119=) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV003606794] Chr11:64210807 [GRCh38]
Chr11:63978279 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.1671-19C>G single nucleotide variant Leukocyte adhesion deficiency 3 [RCV003606809] Chr11:64223029 [GRCh38]
Chr11:63990501 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.273C>T (p.Leu91=) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV003605247] Chr11:64210723 [GRCh38]
Chr11:63978195 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.1671-18T>A single nucleotide variant Leukocyte adhesion deficiency 3 [RCV003606907] Chr11:64223030 [GRCh38]
Chr11:63990502 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.1312-11del deletion Leukocyte adhesion deficiency 3 [RCV003606257] Chr11:64220422 [GRCh38]
Chr11:63987894 [GRCh37]
Chr11:11q13.1		 benign
NM_031471.6(FERMT3):c.861C>T (p.Thr287=) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV003607000] Chr11:64219325 [GRCh38]
Chr11:63986797 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.1926G>C (p.Arg642=) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV003606133] Chr11:64223426 [GRCh38]
Chr11:63990898 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.18A>G (p.Thr6=) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV003606820] Chr11:64207382 [GRCh38]
Chr11:63974854 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.100C>T (p.Leu34=) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV003605601] Chr11:64207464 [GRCh38]
Chr11:63974936 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.1080-12C>T single nucleotide variant Leukocyte adhesion deficiency 3 [RCV003606050] Chr11:64219879 [GRCh38]
Chr11:63987351 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.1671-4_1671del deletion Leukocyte adhesion deficiency 3 [RCV003606055] Chr11:64223042..64223046 [GRCh38]
Chr11:63990514..63990518 [GRCh37]
Chr11:11q13.1		 likely pathogenic
NM_031471.6(FERMT3):c.294G>A (p.Arg98=) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV003606446] Chr11:64210744 [GRCh38]
Chr11:63978216 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.511G>A (p.Gly171Arg) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV003606515] Chr11:64211168 [GRCh38]
Chr11:63978640 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.987C>T (p.Asn329=) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV003605889] Chr11:64219616 [GRCh38]
Chr11:63987088 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.1812+8C>T single nucleotide variant Leukocyte adhesion deficiency 3 [RCV003606049] Chr11:64223197 [GRCh38]
Chr11:63990669 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.787-10C>T single nucleotide variant Leukocyte adhesion deficiency 3 [RCV003498455] Chr11:64219241 [GRCh38]
Chr11:63986713 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.514+13G>T single nucleotide variant Leukocyte adhesion deficiency 3 [RCV003499036] Chr11:64211184 [GRCh38]
Chr11:63978656 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.1312-18C>T single nucleotide variant Leukocyte adhesion deficiency 3 [RCV003498022] Chr11:64220418 [GRCh38]
Chr11:63987890 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.684-6G>T single nucleotide variant Leukocyte adhesion deficiency 3 [RCV003498745] Chr11:64211639 [GRCh38]
Chr11:63979111 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.1790del (p.Asn597fs) deletion Leukocyte adhesion deficiency 3 [RCV003498405] Chr11:64223166 [GRCh38]
Chr11:63990638 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.540G>A (p.Gly180=) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV003499154] Chr11:64211300 [GRCh38]
Chr11:63978772 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.1954C>T (p.Leu652Phe) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV003499174] Chr11:64223454 [GRCh38]
Chr11:63990926 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.1914G>A (p.Ser638=) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV003854913] Chr11:64223414 [GRCh38]
Chr11:63990886 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.515-16C>G single nucleotide variant Leukocyte adhesion deficiency 3 [RCV003814386] Chr11:64211259 [GRCh38]
Chr11:63978731 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.228C>T (p.Thr76=) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV003855133] Chr11:64210678 [GRCh38]
Chr11:63978150 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.1443G>C (p.Gly481=) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV003499517] Chr11:64220567 [GRCh38]
Chr11:63988039 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.1911G>A (p.Leu637=) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV003499584] Chr11:64223411 [GRCh38]
Chr11:63990883 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.1311+10G>A single nucleotide variant Leukocyte adhesion deficiency 3 [RCV003498748] Chr11:64220336 [GRCh38]
Chr11:63987808 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.1469_1504del (p.Pro490_Gly501del) deletion Leukocyte adhesion deficiency 3 [RCV003498772] Chr11:64220587..64220622 [GRCh38]
Chr11:63988059..63988094 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.1079+10G>T single nucleotide variant Leukocyte adhesion deficiency 3 [RCV003499072] Chr11:64219799 [GRCh38]
Chr11:63987271 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.90G>A (p.Glu30=) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV003498974] Chr11:64207454 [GRCh38]
Chr11:63974926 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.786+1G>T single nucleotide variant Leukocyte adhesion deficiency 3 [RCV003865916] Chr11:64211748 [GRCh38]
Chr11:63979220 [GRCh37]
Chr11:11q13.1		 likely pathogenic
NM_031471.6(FERMT3):c.87C>T (p.Ala29=) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV003860097] Chr11:64207451 [GRCh38]
Chr11:63974923 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.1311+13_1311+29del deletion Leukocyte adhesion deficiency 3 [RCV003847887] Chr11:64220334..64220350 [GRCh38]
Chr11:63987806..63987822 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_031471.6(FERMT3):c.1230C>T (p.Asn410=) single nucleotide variant Leukocyte adhesion deficiency 3 [RCV003822406] Chr11:64220245 [GRCh38]
Chr11:63987717 [GRCh37]
Chr11:11q13.1		 likely benign
GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3 copy number gain not specified [RCV003986944] Chr11:56895955..69295402 [GRCh37]
Chr11:11q12.1-13.3		 likely pathogenic
NM_031471.6(FERMT3):c.786+16G>A single nucleotide variant Leukocyte adhesion deficiency 3 [RCV003866019] Chr11:64211763 [GRCh38]
Chr11:63979235 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.1311+11dup duplication Leukocyte adhesion deficiency 3 [RCV003842684] Chr11:64220334..64220335 [GRCh38]
Chr11:63987806..63987807 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.27G>A (p.Gly9=) single nucleotide variant FERMT3-related condition [RCV003931585] Chr11:64207391 [GRCh38]
Chr11:63974863 [GRCh37]
Chr11:11q13.1		 likely benign
NM_031471.6(FERMT3):c.1971C>T (p.Thr657=) single nucleotide variant FERMT3-related condition [RCV003961944] Chr11:64223471 [GRCh38]
Chr11:63990943 [GRCh37]
Chr11:11q13.1		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3042
Count of miRNA genes:894
Interacting mature miRNAs:1100
Transcripts:ENST00000279227, ENST00000345728, ENST00000540554, ENST00000540957, ENST00000541252, ENST00000541326, ENST00000544997, ENST00000545896, ENST00000546255
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region
WI-16915  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371163,991,139 - 63,991,263UniSTSGRCh37
Build 361163,747,715 - 63,747,839RGDNCBI36
Celera1161,317,981 - 61,318,105RGD
Cytogenetic Map11q13UniSTS
Cytogenetic Map11q13.1UniSTS
HuRef1160,319,191 - 60,319,315UniSTS
GeneMap99-GB4 RH Map11248.07UniSTS
Whitehead-RH Map11336.2UniSTS
G33073  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371163,987,957 - 63,988,070UniSTSGRCh37
Build 361163,744,533 - 63,744,646RGDNCBI36
Celera1161,314,803 - 61,314,916RGD
Cytogenetic Map11q13UniSTS
Cytogenetic Map11q13.1UniSTS
HuRef1160,316,015 - 60,316,128UniSTS
RH41986  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371163,991,402 - 63,991,643UniSTSGRCh37
Build 361163,747,978 - 63,748,219RGDNCBI36
Celera1161,318,244 - 61,318,485RGD
Cytogenetic Map11q13UniSTS
Cytogenetic Map11q13.1UniSTS
HuRef1160,319,454 - 60,319,695UniSTS
GeneMap99-GB4 RH Map11238.23UniSTS
NCBI RH Map11573.2UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 1483 1848 887 222 1913 135 1948 489 812 160 508 1184 88 1160 1137 2 1
Low 943 1141 830 397 37 325 2396 1699 2914 246 941 403 86 1 44 1651 4 1
Below cutoff 13 2 9 5 1 5 11 9 8 13 11 26

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_016360 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001382361 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001382362 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001382363 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001382364 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001382448 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_031471 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_178443 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047427676 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054370132 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AK093719 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL560215 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP005668 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY093951 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY093952 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC004347 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC013366 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC015584 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG491422 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471076 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068267 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L25343 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000279227   ⟹   ENSP00000279227
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1164,206,670 - 64,223,891 (+)Ensembl
RefSeq Acc Id: ENST00000345728   ⟹   ENSP00000339950
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1164,206,721 - 64,223,891 (+)Ensembl
RefSeq Acc Id: ENST00000540554
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1164,217,497 - 64,223,889 (+)Ensembl
RefSeq Acc Id: ENST00000540957
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1164,219,477 - 64,220,450 (+)Ensembl
RefSeq Acc Id: ENST00000541252   ⟹   ENSP00000438885
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1164,207,772 - 64,223,890 (+)Ensembl
RefSeq Acc Id: ENST00000541326
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1164,211,645 - 64,220,669 (+)Ensembl
RefSeq Acc Id: ENST00000544997   ⟹   ENSP00000445778
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1164,206,632 - 64,223,896 (+)Ensembl
RefSeq Acc Id: ENST00000545896   ⟹   ENSP00000440209
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1164,220,436 - 64,223,848 (+)Ensembl
RefSeq Acc Id: ENST00000546255
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1164,206,732 - 64,223,853 (+)Ensembl
RefSeq Acc Id: ENST00000698845   ⟹   ENSP00000513981
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1164,206,627 - 64,223,886 (+)Ensembl
RefSeq Acc Id: ENST00000698846
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1164,206,692 - 64,223,889 (+)Ensembl
RefSeq Acc Id: ENST00000698847   ⟹   ENSP00000513982
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1164,206,726 - 64,223,806 (+)Ensembl
RefSeq Acc Id: ENST00000698848
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1164,219,453 - 64,220,482 (+)Ensembl
RefSeq Acc Id: ENST00000698849
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1164,219,510 - 64,220,667 (+)Ensembl
RefSeq Acc Id: ENST00000698850
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1164,211,650 - 64,223,857 (+)Ensembl
RefSeq Acc Id: ENST00000698852   ⟹   ENSP00000513984
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1164,205,926 - 64,223,833 (+)Ensembl
RefSeq Acc Id: ENST00000698853   ⟹   ENSP00000513985
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1164,206,711 - 64,223,857 (+)Ensembl
RefSeq Acc Id: ENST00000698854   ⟹   ENSP00000513986
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1164,206,729 - 64,223,830 (+)Ensembl
RefSeq Acc Id: ENST00000698855
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1164,208,799 - 64,223,777 (+)Ensembl
RefSeq Acc Id: ENST00000698856
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1164,209,531 - 64,223,889 (+)Ensembl
RefSeq Acc Id: ENST00000698859
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1164,206,665 - 64,223,824 (+)Ensembl
RefSeq Acc Id: ENST00000698860   ⟹   ENSP00000513988
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1164,206,670 - 64,223,890 (+)Ensembl
RefSeq Acc Id: ENST00000698861   ⟹   ENSP00000513989
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1164,206,689 - 64,223,886 (+)Ensembl
RefSeq Acc Id: ENST00000698862   ⟹   ENSP00000513990
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1164,206,703 - 64,223,831 (+)Ensembl
RefSeq Acc Id: ENST00000698863   ⟹   ENSP00000513991
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1164,206,716 - 64,223,896 (+)Ensembl
RefSeq Acc Id: ENST00000698864
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1164,206,723 - 64,223,833 (+)Ensembl
RefSeq Acc Id: ENST00000698865   ⟹   ENSP00000513992
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1164,206,723 - 64,223,875 (+)Ensembl
RefSeq Acc Id: ENST00000698866   ⟹   ENSP00000513993
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1164,206,738 - 64,223,833 (+)Ensembl
RefSeq Acc Id: ENST00000698867
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1164,206,742 - 64,223,882 (+)Ensembl
RefSeq Acc Id: ENST00000698868   ⟹   ENSP00000513994
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1164,206,742 - 64,223,882 (+)Ensembl
RefSeq Acc Id: ENST00000698869   ⟹   ENSP00000513995
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1164,206,744 - 64,223,822 (+)Ensembl
RefSeq Acc Id: ENST00000698870   ⟹   ENSP00000513996
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1164,206,759 - 64,223,756 (+)Ensembl
RefSeq Acc Id: ENST00000698871
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1164,207,108 - 64,223,886 (+)Ensembl
RefSeq Acc Id: ENST00000698872   ⟹   ENSP00000513997
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1164,207,731 - 64,223,828 (+)Ensembl
RefSeq Acc Id: ENST00000698873   ⟹   ENSP00000513998
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1164,207,971 - 64,223,828 (+)Ensembl
RefSeq Acc Id: ENST00000698874   ⟹   ENSP00000513999
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1164,207,976 - 64,223,891 (+)Ensembl
RefSeq Acc Id: ENST00000698875
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1164,210,792 - 64,223,808 (+)Ensembl
RefSeq Acc Id: ENST00000698876
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1164,218,691 - 64,223,815 (+)Ensembl
RefSeq Acc Id: ENST00000698877
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1164,218,897 - 64,223,853 (+)Ensembl
RefSeq Acc Id: ENST00000698878   ⟹   ENSP00000514000
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1164,206,716 - 64,223,831 (+)Ensembl
RefSeq Acc Id: ENST00000698879   ⟹   ENSP00000514001
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1164,210,611 - 64,219,358 (+)Ensembl
RefSeq Acc Id: ENST00000698880   ⟹   ENSP00000514002
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1164,210,611 - 64,223,891 (+)Ensembl
RefSeq Acc Id: NM_001382361   ⟹   NP_001369290
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381164,206,721 - 64,223,891 (+)NCBI
T2T-CHM13v2.01164,196,667 - 64,213,837 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001382362   ⟹   NP_001369291
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381164,206,721 - 64,223,891 (+)NCBI
T2T-CHM13v2.01164,196,667 - 64,213,837 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001382363   ⟹   NP_001369292
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381164,207,706 - 64,223,891 (+)NCBI
T2T-CHM13v2.01164,197,652 - 64,213,837 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001382364   ⟹   NP_001369293
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381164,207,706 - 64,223,891 (+)NCBI
T2T-CHM13v2.01164,197,652 - 64,213,837 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001382448   ⟹   NP_001369377
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381164,205,920 - 64,223,891 (+)NCBI
T2T-CHM13v2.01164,195,866 - 64,213,837 (+)NCBI
Sequence:
RefSeq Acc Id: NM_031471   ⟹   NP_113659
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381164,206,721 - 64,223,891 (+)NCBI
GRCh371163,974,152 - 63,991,363 (+)ENTREZGENE
Build 361163,730,789 - 63,747,939 (+)NCBI Archive
HuRef1160,302,226 - 60,319,415 (+)ENTREZGENE
CHM1_11163,857,143 - 63,874,352 (+)NCBI
T2T-CHM13v2.01164,196,667 - 64,213,837 (+)NCBI
Sequence:
RefSeq Acc Id: NM_178443   ⟹   NP_848537
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381164,206,721 - 64,223,891 (+)NCBI
GRCh371163,974,152 - 63,991,363 (+)ENTREZGENE
Build 361163,730,782 - 63,747,930 (+)NCBI Archive
HuRef1160,302,226 - 60,319,415 (+)ENTREZGENE
CHM1_11163,857,143 - 63,874,352 (+)NCBI
T2T-CHM13v2.01164,196,667 - 64,213,837 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047427676   ⟹   XP_047283632
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381164,211,074 - 64,223,891 (+)NCBI
RefSeq Acc Id: XM_054370132   ⟹   XP_054226107
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01164,201,009 - 64,213,837 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001369290 (Get FASTA)   NCBI Sequence Viewer  
  NP_001369291 (Get FASTA)   NCBI Sequence Viewer  
  NP_001369292 (Get FASTA)   NCBI Sequence Viewer  
  NP_001369293 (Get FASTA)   NCBI Sequence Viewer  
  NP_001369377 (Get FASTA)   NCBI Sequence Viewer  
  NP_113659 (Get FASTA)   NCBI Sequence Viewer  
  NP_848537 (Get FASTA)   NCBI Sequence Viewer  
  XP_047283632 (Get FASTA)   NCBI Sequence Viewer  
  XP_054226107 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH04347 (Get FASTA)   NCBI Sequence Viewer  
  AAH13366 (Get FASTA)   NCBI Sequence Viewer  
  AAH15584 (Get FASTA)   NCBI Sequence Viewer  
  AAM19736 (Get FASTA)   NCBI Sequence Viewer  
  AAM19737 (Get FASTA)   NCBI Sequence Viewer  
  BAC04220 (Get FASTA)   NCBI Sequence Viewer  
  EAW74199 (Get FASTA)   NCBI Sequence Viewer  
  EAW74200 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000279227
  ENSP00000279227.5
  ENSP00000339950
  ENSP00000339950.5
  ENSP00000438885
  ENSP00000438885.2
  ENSP00000440209.2
  ENSP00000445778
  ENSP00000445778.1
  ENSP00000445778.2
  ENSP00000513981.1
  ENSP00000513982.1
  ENSP00000513984.1
  ENSP00000513985.1
  ENSP00000513986.1
  ENSP00000513988
  ENSP00000513988.1
  ENSP00000513989.1
  ENSP00000513990.1
  ENSP00000513991.1
  ENSP00000513992.1
  ENSP00000513993.1
  ENSP00000513994.1
  ENSP00000513995.1
  ENSP00000513996.1
  ENSP00000513997.1
  ENSP00000513998.1
  ENSP00000513999.1
  ENSP00000514000.1
  ENSP00000514001.1
  ENSP00000514002.1
GenBank Protein Q86UX7 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_848537   ⟸   NM_178443
- Peptide Label: long isoform
- UniProtKB: Q8N207 (UniProtKB/Swiss-Prot),   Q8IUA1 (UniProtKB/Swiss-Prot),   Q9BT48 (UniProtKB/Swiss-Prot),   Q86UX7 (UniProtKB/Swiss-Prot),   A0A8V8TME2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_113659   ⟸   NM_031471
- Peptide Label: short isoform
- UniProtKB: A0A8V8TME2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001369377   ⟸   NM_001382448
- Peptide Label: short isoform
- UniProtKB: A0A8V8TME2 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001369291   ⟸   NM_001382362
- Peptide Label: long isoform
- UniProtKB: Q8N207 (UniProtKB/Swiss-Prot),   Q8IUA1 (UniProtKB/Swiss-Prot),   Q86UX7 (UniProtKB/Swiss-Prot),   Q9BT48 (UniProtKB/Swiss-Prot),   A0A8V8TME2 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001369290   ⟸   NM_001382361
- Peptide Label: short isoform
- UniProtKB: A0A8V8TME2 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001369293   ⟸   NM_001382364
- Peptide Label: isoform 6
RefSeq Acc Id: NP_001369292   ⟸   NM_001382363
- Peptide Label: isoform 5
- UniProtKB: F5H3I6 (UniProtKB/TrEMBL)
RefSeq Acc Id: ENSP00000438885   ⟸   ENST00000541252
RefSeq Acc Id: ENSP00000339950   ⟸   ENST00000345728
RefSeq Acc Id: ENSP00000445778   ⟸   ENST00000544997
RefSeq Acc Id: ENSP00000440209   ⟸   ENST00000545896
RefSeq Acc Id: ENSP00000279227   ⟸   ENST00000279227
RefSeq Acc Id: XP_047283632   ⟸   XM_047427676
- Peptide Label: isoform X1
RefSeq Acc Id: ENSP00000514001   ⟸   ENST00000698879
RefSeq Acc Id: ENSP00000513982   ⟸   ENST00000698847
RefSeq Acc Id: ENSP00000513995   ⟸   ENST00000698869
RefSeq Acc Id: ENSP00000514002   ⟸   ENST00000698880
RefSeq Acc Id: ENSP00000513994   ⟸   ENST00000698868
RefSeq Acc Id: ENSP00000513981   ⟸   ENST00000698845
RefSeq Acc Id: ENSP00000513992   ⟸   ENST00000698865
RefSeq Acc Id: ENSP00000513986   ⟸   ENST00000698854
RefSeq Acc Id: ENSP00000513984   ⟸   ENST00000698852
RefSeq Acc Id: ENSP00000513993   ⟸   ENST00000698866
RefSeq Acc Id: ENSP00000513998   ⟸   ENST00000698873
RefSeq Acc Id: ENSP00000514000   ⟸   ENST00000698878
RefSeq Acc Id: ENSP00000513990   ⟸   ENST00000698862
RefSeq Acc Id: ENSP00000513996   ⟸   ENST00000698870
RefSeq Acc Id: ENSP00000513991   ⟸   ENST00000698863
RefSeq Acc Id: ENSP00000513997   ⟸   ENST00000698872
RefSeq Acc Id: ENSP00000513985   ⟸   ENST00000698853
RefSeq Acc Id: ENSP00000513989   ⟸   ENST00000698861
RefSeq Acc Id: ENSP00000513988   ⟸   ENST00000698860
RefSeq Acc Id: ENSP00000513999   ⟸   ENST00000698874
RefSeq Acc Id: XP_054226107   ⟸   XM_054370132
- Peptide Label: isoform X1
Protein Domains
Band 4.1   FERM   FERM central   Kindlin-2 N-terminal   PH

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q86UX7-F1-model_v2 AlphaFold Q86UX7 1-667 view protein structure

Promoters
RGD ID:6788924
Promoter ID:HG_KWN:13192
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_031471,   NM_178443
Position:
Human AssemblyChrPosition (strand)Source
Build 361163,729,891 - 63,730,942 (+)MPROMDB
RGD ID:7220813
Promoter ID:EPDNEW_H16152
Type:initiation region
Name:FERMT3_1
Description:fermitin family member 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381164,206,721 - 64,206,781EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:23151 AgrOrtholog
COSMIC FERMT3 COSMIC
Ensembl Genes ENSG00000149781 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000279227 ENTREZGENE
  ENST00000279227.10 UniProtKB/Swiss-Prot
  ENST00000345728 ENTREZGENE
  ENST00000345728.10 UniProtKB/Swiss-Prot
  ENST00000541252 ENTREZGENE
  ENST00000541252.2 UniProtKB/TrEMBL
  ENST00000544997 ENTREZGENE
  ENST00000544997.5 UniProtKB/TrEMBL
  ENST00000544997.6 UniProtKB/Swiss-Prot
  ENST00000545896.2 UniProtKB/TrEMBL
  ENST00000698845.1 UniProtKB/TrEMBL
  ENST00000698847.1 UniProtKB/TrEMBL
  ENST00000698852.1 UniProtKB/Swiss-Prot
  ENST00000698853.1 UniProtKB/TrEMBL
  ENST00000698854.1 UniProtKB/TrEMBL
  ENST00000698860 ENTREZGENE
  ENST00000698860.1 UniProtKB/Swiss-Prot
  ENST00000698861.1 UniProtKB/Swiss-Prot
  ENST00000698862.1 UniProtKB/TrEMBL
  ENST00000698863.1 UniProtKB/Swiss-Prot
  ENST00000698865.1 UniProtKB/TrEMBL
  ENST00000698866.1 UniProtKB/TrEMBL
  ENST00000698868.1 UniProtKB/TrEMBL
  ENST00000698869.1 UniProtKB/TrEMBL
  ENST00000698870.1 UniProtKB/Swiss-Prot
  ENST00000698872.1 UniProtKB/TrEMBL
  ENST00000698873.1 UniProtKB/TrEMBL
  ENST00000698874.1 UniProtKB/TrEMBL
  ENST00000698875 ENTREZGENE
  ENST00000698878.1 UniProtKB/TrEMBL
  ENST00000698879.1 UniProtKB/TrEMBL
  ENST00000698880.1 UniProtKB/TrEMBL
Gene3D-CATH 1.20.80.10 UniProtKB/TrEMBL
  2.30.29.30 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000149781 GTEx
HGNC ID HGNC:23151 ENTREZGENE
Human Proteome Map FERMT3 Human Proteome Map
InterPro Band_41_domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FERM/acyl-CoA-bd_prot_sf UniProtKB/TrEMBL
  FERM_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FERM_central UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FERM_CS UniProtKB/TrEMBL
  Kindlin/fermitin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Kindlin_2_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PH-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PH_domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PH_Kindlin/fermitin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:83706 UniProtKB/Swiss-Prot
NCBI Gene 83706 ENTREZGENE
OMIM 607901 OMIM
PANTHER FERMITIN FAMILY HOMOLOG 3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR16160 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam FERM_M UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Kindlin_2_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PF00169 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA162388384 PharmGKB
PROSITE FERM_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PH_DOMAIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART B41 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SM00233 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP PH domain-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Second domain of FERM UniProtKB/TrEMBL, UniProtKB/Swiss-Prot
UniProt A0A8V8TMB3_HUMAN UniProtKB/TrEMBL
  A0A8V8TMD7_HUMAN UniProtKB/TrEMBL
  A0A8V8TME2 ENTREZGENE, UniProtKB/TrEMBL
  A0A8V8TMS8_HUMAN UniProtKB/TrEMBL
  A0A8V8TMT4_HUMAN UniProtKB/TrEMBL
  A0A8V8TMT7_HUMAN UniProtKB/TrEMBL
  A0A8V8TMU1_HUMAN UniProtKB/TrEMBL
  A0A8V8TNT4_HUMAN UniProtKB/TrEMBL
  A0A8V8TNT9_HUMAN UniProtKB/TrEMBL
  A0A8V8TP41_HUMAN UniProtKB/TrEMBL
  A0A8V8TP46_HUMAN UniProtKB/TrEMBL
  F5H1C6_HUMAN UniProtKB/TrEMBL
  F5H3I6 ENTREZGENE, UniProtKB/TrEMBL
  H0YFT5_HUMAN UniProtKB/TrEMBL
  Q86UX7 ENTREZGENE
  Q8IUA1 ENTREZGENE
  Q8N207 ENTREZGENE
  Q9BT48 ENTREZGENE
  URP2_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary Q8IUA1 UniProtKB/Swiss-Prot
  Q8N207 UniProtKB/Swiss-Prot
  Q9BT48 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2021-02-15 FERMT3  FERM domain containing kindlin 3  FERMT3  fermitin family member 3  Symbol and/or name change 19259463 PROVISIONAL
2011-07-27 FERMT3  fermitin family member 3  FERMT3  fermitin family homolog 3 (Drosophila)  Symbol and/or name change 5135510 APPROVED