FERMT3 — 611 ClinVar variants
All ClinVar germline FERMT3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 225 flagged for review →
18 Pathogenic · 1 Pathogenic/Likely pathogenic · 6 Likely pathogenic · 14 Conflicting · 21 Benign · 18 Benign/Likely benign · 279 Likely benign · 254 Uncertain significance
Full FERMT3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 225
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors agree, ClinVar conflicts 8
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
FERMT3 p.Ala176Val
Conflicting
Single submitter
Inborn genetic diseases
-
FERMT3 p.Ala246Thr
Conflicting
Single submitter
Inborn genetic diseases
-
FERMT3 p.Arg107His
Conflicting
Single submitter
leukocyte adhesion deficiency 3
-
FERMT3 p.Arg111Cys
Conflicting
Single submitter
leukocyte adhesion deficiency 3
-
FERMT3 p.Arg477His
Conflicting
Single submitter
Inborn genetic diseases
-
FERMT3 p.Pro203Ser
Conflicting
Single submitter
leukocyte adhesion deficiency 3
-
FERMT3 p.Ser386Arg
Conflicting
Single submitter
leukocyte adhesion deficiency 3
-
FERMT3 p.Val100Ile
Conflicting
Single submitter
leukocyte adhesion deficiency 3
Predictors lean, ClinVar uncertain 162
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 162
-
FERMT3 p.Ala109Thr
Uncertain significance
Multiple submitters
leukocyte adhesion deficiency 3
-
FERMT3 p.Ala338Val
Uncertain significance
Multiple submitters
leukocyte adhesion deficiency 3
-
FERMT3 p.Ala570Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FERMT3 p.Arg103Gln
Uncertain significance
Multiple submitters
leukocyte adhesion deficiency 3
-
FERMT3 p.Arg111His
Uncertain significance
Multiple submitters
leukocyte adhesion deficiency
-
FERMT3 p.Arg129His
Uncertain significance
Multiple submitters
leukocyte adhesion deficiency 3
-
FERMT3 p.Arg179Leu
Uncertain significance
Multiple submitters
leukocyte adhesion deficiency 3
-
FERMT3 p.Arg19Gln
Uncertain significance
Multiple submitters
leukocyte adhesion deficiency 3
-
FERMT3 p.Arg200Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FERMT3 p.Arg212His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FERMT3 p.Arg506Cys
Uncertain significance
Multiple submitters
leukocyte adhesion deficiency 3
-
FERMT3 p.Arg506Ser
Uncertain significance
Multiple submitters
leukocyte adhesion deficiency 3
-
FERMT3 p.Arg538Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FERMT3 p.Arg538His
Uncertain significance
Multiple submitters
leukocyte adhesion deficiency 3
-
FERMT3 p.Arg573Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FERMT3 p.Arg603Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FERMT3 p.Arg640Trp
Uncertain significance
Multiple submitters
leukocyte adhesion deficiency 3
-
FERMT3 p.Arg644His
Uncertain significance
Multiple submitters
leukocyte adhesion deficiency 3
-
FERMT3 p.Arg90Cys
Uncertain significance
Multiple submitters
leukocyte adhesion deficiency 3
-
FERMT3 p.Asp206Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FERMT3 p.Asp408Asn
Uncertain significance
Multiple submitters
leukocyte adhesion deficiency 3
-
FERMT3 p.Asp491Ala
Uncertain significance
Multiple submitters
leukocyte adhesion deficiency 3
-
FERMT3 p.Asp88Asn
Uncertain significance
Multiple submitters
leukocyte adhesion deficiency 3
-
FERMT3 p.Gln190Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FERMT3 p.Glu137Lys
Uncertain significance
Multiple submitters
leukocyte adhesion deficiency 3
-
FERMT3 p.Glu629Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FERMT3 p.Gly244Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FERMT3 p.Gly413Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FERMT3 p.Gly489Ser
Uncertain significance
Multiple submitters
leukocyte adhesion deficiency 3
-
FERMT3 p.Leu18Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FERMT3 p.Pro203Leu
Uncertain significance
Multiple submitters
FERMT3-related disorder
-
FERMT3 p.Pro313Leu
Uncertain significance
Multiple submitters
leukocyte adhesion deficiency 3
-
FERMT3 p.Pro483Leu
Uncertain significance
Multiple submitters
leukocyte adhesion deficiency 3
-
FERMT3 p.Trp373Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FERMT3 p.Val173Met
Uncertain significance
Multiple submitters
leukocyte adhesion deficiency 3
-
FERMT3 p.Val409Ile
Uncertain significance
Multiple submitters
leukocyte adhesion deficiency 3
-
FERMT3 p.Val411Ile
Uncertain significance
Multiple submitters
leukocyte adhesion deficiency 3
-
FERMT3 p.Val581Met
Uncertain significance
Multiple submitters
leukocyte adhesion deficiency 3
-
FERMT3 p.Ala144Gly
Uncertain significance
Single submitter
leukocyte adhesion deficiency 3
-
FERMT3 p.Ala174Val
Uncertain significance
Single submitter
leukocyte adhesion deficiency 3
-
FERMT3 p.Ala189Thr
Uncertain significance
Single submitter
leukocyte adhesion deficiency 3
-
FERMT3 p.Ala243Gly
Uncertain significance
Single submitter
leukocyte adhesion deficiency 3
-
FERMT3 p.Ala246Val
Uncertain significance
Single submitter
leukocyte adhesion deficiency 3
-
FERMT3 p.Ala296Thr
Uncertain significance
Single submitter
leukocyte adhesion deficiency 3
-
FERMT3 p.Ala29Val
Uncertain significance
Single submitter
leukocyte adhesion deficiency 3
-
FERMT3 p.Ala314Val
Uncertain significance
Single submitter
leukocyte adhesion deficiency 3
-
FERMT3 p.Ala580Thr
Uncertain significance
Single submitter
leukocyte adhesion deficiency 3
-
FERMT3 p.Arg108His
Uncertain significance
Single submitter
leukocyte adhesion deficiency 3
-
FERMT3 p.Arg129Cys
Uncertain significance
Single submitter
Inborn genetic diseases
- FERMT3 p.Arg134Gln Uncertain significance Single submitter
-
FERMT3 p.Arg143Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
FERMT3 p.Arg143Trp
Uncertain significance
Single submitter
leukocyte adhesion deficiency 3
-
FERMT3 p.Arg179Gln
Uncertain significance
Single submitter
leukocyte adhesion deficiency 3
-
FERMT3 p.Arg19Leu
Uncertain significance
Single submitter
leukocyte adhesion deficiency 3
-
FERMT3 p.Arg200Trp
Uncertain significance
Single submitter
leukocyte adhesion deficiency 3
-
FERMT3 p.Arg212Cys
Uncertain significance
Single submitter
leukocyte adhesion deficiency 3
-
FERMT3 p.Arg215Gln
Uncertain significance
Single submitter
leukocyte adhesion deficiency 3
-
FERMT3 p.Arg215Leu
Uncertain significance
Single submitter
leukocyte adhesion deficiency 3
-
FERMT3 p.Arg215Trp
Uncertain significance
Single submitter
leukocyte adhesion deficiency 3
-
FERMT3 p.Arg234Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
FERMT3 p.Arg250Cys
Uncertain significance
Single submitter
leukocyte adhesion deficiency 3
-
FERMT3 p.Arg250Leu
Uncertain significance
Single submitter
leukocyte adhesion deficiency 3
-
FERMT3 p.Arg357Gln
Uncertain significance
Single submitter
leukocyte adhesion deficiency 3
-
FERMT3 p.Arg370His
Uncertain significance
Single submitter
Inborn genetic diseases
-
FERMT3 p.Arg449Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
FERMT3 p.Arg455His
Uncertain significance
Single submitter
leukocyte adhesion deficiency 3
-
FERMT3 p.Arg55Ser
Uncertain significance
Single submitter
leukocyte adhesion deficiency 3
-
FERMT3 p.Arg576Cys
Uncertain significance
Single submitter
leukocyte adhesion deficiency 3
-
FERMT3 p.Arg589Leu
Uncertain significance
Single submitter
leukocyte adhesion deficiency 3
- FERMT3 p.Arg642Gln Uncertain significance Single submitter
-
FERMT3 p.Arg644Pro
Uncertain significance
Single submitter
leukocyte adhesion deficiency 3
-
FERMT3 p.Asn485Ser
Uncertain significance
Single submitter
leukocyte adhesion deficiency 3
-
FERMT3 p.Asn54Asp
Uncertain significance
Single submitter
leukocyte adhesion deficiency 3
-
FERMT3 p.Asn614Ser
Uncertain significance
Single submitter
leukocyte adhesion deficiency 3
-
FERMT3 p.Asp10Asn
Uncertain significance
Single submitter
leukocyte adhesion deficiency 3
-
FERMT3 p.Asp187Gly
Uncertain significance
Single submitter
leukocyte adhesion deficiency 3
-
FERMT3 p.Asp221Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
FERMT3 p.Asp258Asn
Uncertain significance
Single submitter
leukocyte adhesion deficiency 3
-
FERMT3 p.Asp491His
Uncertain significance
Single submitter
leukocyte adhesion deficiency 3
-
FERMT3 p.Asp578Asn
Uncertain significance
Single submitter
leukocyte adhesion deficiency 3
-
FERMT3 p.Asp583Glu
Uncertain significance
Single submitter
leukocyte adhesion deficiency 3
- FERMT3 p.Gln122Arg Uncertain significance Single submitter
-
FERMT3 p.Gln396Arg
Uncertain significance
Single submitter
leukocyte adhesion deficiency 3
-
FERMT3 p.Gln52Arg
Uncertain significance
Single submitter
leukocyte adhesion deficiency 3
- FERMT3 p.Gln52His Uncertain significance Single submitter
-
FERMT3 p.Gln71His
Uncertain significance
Single submitter
leukocyte adhesion deficiency 3
-
FERMT3 p.Gln96Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
FERMT3 p.Glu149Lys
Uncertain significance
Single submitter
leukocyte adhesion deficiency 3
-
FERMT3 p.Glu154Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
FERMT3 p.Glu158Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
FERMT3 p.Glu159Lys
Uncertain significance
Single submitter
leukocyte adhesion deficiency 3
-
FERMT3 p.Glu160Val
Uncertain significance
Single submitter
leukocyte adhesion deficiency 3
-
FERMT3 p.Glu25Gly
Uncertain significance
Single submitter
leukocyte adhesion deficiency 3
-
FERMT3 p.Glu283Asp
Uncertain significance
Single submitter
leukocyte adhesion deficiency 3
-
FERMT3 p.Glu288Lys
Uncertain significance
Single submitter
leukocyte adhesion deficiency 3
-
FERMT3 p.Glu312Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
FERMT3 p.Glu495Lys
Uncertain significance
Single submitter
leukocyte adhesion deficiency 3
-
FERMT3 p.Glu608Gly
Uncertain significance
Single submitter
leukocyte adhesion deficiency 3
-
FERMT3 p.Gly171Arg
Uncertain significance
Single submitter
leukocyte adhesion deficiency 3
-
FERMT3 p.Gly171Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
FERMT3 p.Gly240Asp
Uncertain significance
Single submitter
leukocyte adhesion deficiency 3
-
FERMT3 p.Gly308Arg
Uncertain significance
Single submitter
leukocyte adhesion deficiency 3
-
FERMT3 p.Gly392Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
FERMT3 p.Gly482Asp
Uncertain significance
Single submitter
leukocyte adhesion deficiency 3
-
FERMT3 p.Gly501Ser
Uncertain significance
Single submitter
leukocyte adhesion deficiency 3
-
FERMT3 p.Gly632Arg
Uncertain significance
Single submitter
leukocyte adhesion deficiency 3
-
FERMT3 p.Gly632Val
Uncertain significance
Single submitter
leukocyte adhesion deficiency 3
-
FERMT3 p.His488Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
FERMT3 p.His660Arg
Uncertain significance
Single submitter
leukocyte adhesion deficiency 3
-
FERMT3 p.Ile12Val
Uncertain significance
Single submitter
leukocyte adhesion deficiency 3
-
FERMT3 p.Ile301Thr
Uncertain significance
Single submitter
leukocyte adhesion deficiency 3
-
FERMT3 p.Ile301Val
Uncertain significance
Single submitter
leukocyte adhesion deficiency 3
-
FERMT3 p.Ile42Val
Uncertain significance
Single submitter
leukocyte adhesion deficiency 3
- FERMT3 p.Ile540Leu Uncertain significance Single submitter
- FERMT3 p.Ile577Met Uncertain significance Single submitter
-
FERMT3 p.Ile607Val
Uncertain significance
Single submitter
leukocyte adhesion deficiency 3
-
FERMT3 p.Ile635Asn
Uncertain significance
Single submitter
leukocyte adhesion deficiency 3
-
FERMT3 p.Leu130Arg
Uncertain significance
Single submitter
leukocyte adhesion deficiency 3
-
FERMT3 p.Leu131Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
FERMT3 p.Leu161Val
Uncertain significance
Single submitter
leukocyte adhesion deficiency 3
-
FERMT3 p.Leu169Phe
Uncertain significance
Single submitter
leukocyte adhesion deficiency 3
-
FERMT3 p.Leu198Pro
Uncertain significance
Single submitter
leukocyte adhesion deficiency 3
-
FERMT3 p.Leu236Phe
Uncertain significance
Single submitter
leukocyte adhesion deficiency 3
-
FERMT3 p.Leu323Val
Uncertain significance
Single submitter
leukocyte adhesion deficiency 3
-
FERMT3 p.Leu34Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
FERMT3 p.Leu47Gln
Uncertain significance
Single submitter
leukocyte adhesion deficiency 3
-
FERMT3 p.Leu502Phe
Uncertain significance
Single submitter
leukocyte adhesion deficiency 3
-
FERMT3 p.Leu637Arg
Uncertain significance
Single submitter
leukocyte adhesion deficiency 3
-
FERMT3 p.Lys148Asn
Uncertain significance
Single submitter
leukocyte adhesion deficiency 3
-
FERMT3 p.Lys242Glu
Uncertain significance
Single submitter
leukocyte adhesion deficiency 3
-
FERMT3 p.Lys419Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
FERMT3 p.Lys563Arg
Uncertain significance
Single submitter
leukocyte adhesion deficiency 3
-
FERMT3 p.Lys563Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
FERMT3 p.Phe416Cys
Uncertain significance
Single submitter
leukocyte adhesion deficiency 3
-
FERMT3 p.Phe507Cys
Uncertain significance
Single submitter
leukocyte adhesion deficiency 3
-
FERMT3 p.Phe92Cys
Uncertain significance
Single submitter
leukocyte adhesion deficiency 3
-
FERMT3 p.Pro105Ser
Uncertain significance
Single submitter
leukocyte adhesion deficiency 3
-
FERMT3 p.Pro175Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
FERMT3 p.Pro205Thr
Uncertain significance
Single submitter
leukocyte adhesion deficiency 3
-
FERMT3 p.Pro207Ala
Uncertain significance
Single submitter
leukocyte adhesion deficiency 3
-
FERMT3 p.Pro216Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
FERMT3 p.Pro27Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
FERMT3 p.Pro483Arg
Uncertain significance
Single submitter
leukocyte adhesion deficiency 3
-
FERMT3 p.Ser140Phe
Uncertain significance
Single submitter
leukocyte adhesion deficiency 3
-
FERMT3 p.Ser233Leu
Uncertain significance
Single submitter
leukocyte adhesion deficiency 3
-
FERMT3 p.Ser328Arg
Uncertain significance
Single submitter
leukocyte adhesion deficiency 3
-
FERMT3 p.Ser480Thr
Uncertain significance
Single submitter
leukocyte adhesion deficiency 3
-
FERMT3 p.Ser623Gly
Uncertain significance
Single submitter
leukocyte adhesion deficiency 3
-
FERMT3 p.Ser638Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
FERMT3 p.Ser8Phe
Uncertain significance
Single submitter
Inborn genetic diseases
Predictors split 55
The independent predictors disagree with each other — read with care.
-
FERMT3 p.Arg179Trp
Uncertain significance
Multiple submitters
leukocyte adhesion deficiency 3
-
FERMT3 p.Arg55His
Uncertain significance
Multiple submitters
leukocyte adhesion deficiency 3
-
FERMT3 p.Arg90His
Uncertain significance
Multiple submitters
leukocyte adhesion deficiency 3
-
FERMT3 p.Asp13Asn
Uncertain significance
Multiple submitters
leukocyte adhesion deficiency 3
-
FERMT3 p.Asp583Asn
Uncertain significance
Multiple submitters
leukocyte adhesion deficiency 3
-
FERMT3 p.Asp610Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FERMT3 p.Gln467Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FERMT3 p.Glu389Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FERMT3 p.Gly454Asp
Uncertain significance
Multiple submitters
leukocyte adhesion deficiency 3
-
FERMT3 p.Leu210His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FERMT3 p.Phe359Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FERMT3 p.Val605Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FERMT3 p.Ala2Val
Uncertain significance
Single submitter
leukocyte adhesion deficiency 3
-
FERMT3 p.Ala390Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
FERMT3 p.Ala451Gly
Uncertain significance
Single submitter
leukocyte adhesion deficiency 3
-
FERMT3 p.Ala89Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
FERMT3 p.Arg103Trp
Uncertain significance
Single submitter
leukocyte adhesion deficiency 3
-
FERMT3 p.Arg250His
Uncertain significance
Single submitter
leukocyte adhesion deficiency 3
-
FERMT3 p.Arg276Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
FERMT3 p.Arg360Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
FERMT3 p.Arg434Gln
Uncertain significance
Single submitter
leukocyte adhesion deficiency 3
-
FERMT3 p.Arg443His
Likely benign
Single submitter
Inborn genetic diseases
-
FERMT3 p.Arg455Cys
Uncertain significance
Single submitter
leukocyte adhesion deficiency 3
-
FERMT3 p.Arg477Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
FERMT3 p.Arg603Trp
Uncertain significance
Single submitter
leukocyte adhesion deficiency 3
-
FERMT3 p.Arg642Trp
Uncertain significance
Single submitter
leukocyte adhesion deficiency 3
-
FERMT3 p.Asn572Ser
Uncertain significance
Single submitter
leukocyte adhesion deficiency 3
-
FERMT3 p.Asp264His
Uncertain significance
Single submitter
leukocyte adhesion deficiency 3
-
FERMT3 p.Asp278His
Uncertain significance
Single submitter
leukocyte adhesion deficiency 3
-
FERMT3 p.Asp344Tyr
Uncertain significance
Single submitter
leukocyte adhesion deficiency 3
-
FERMT3 p.Asp548Asn
Uncertain significance
Single submitter
leukocyte adhesion deficiency 3
-
FERMT3 p.Glu331Ala
Uncertain significance
Single submitter
leukocyte adhesion deficiency 3
-
FERMT3 p.Gly244Arg
Uncertain significance
Single submitter
leukocyte adhesion deficiency 3
-
FERMT3 p.Gly38Ala
Uncertain significance
Single submitter
leukocyte adhesion deficiency 3
-
FERMT3 p.Gly454Ser
Uncertain significance
Single submitter
leukocyte adhesion deficiency 3
-
FERMT3 p.Gly9Arg
Uncertain significance
Single submitter
leukocyte adhesion deficiency 3
-
FERMT3 p.Leu164Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
FERMT3 p.Leu334Pro
Uncertain significance
Single submitter
leukocyte adhesion deficiency 3
-
FERMT3 p.Leu366Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
FERMT3 p.Lys150Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
FERMT3 p.Lys262Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
FERMT3 p.Lys401Thr
Uncertain significance
Single submitter
leukocyte adhesion deficiency 3
-
FERMT3 p.Phe257Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
FERMT3 p.Pro182Ser
Uncertain significance
Single submitter
leukocyte adhesion deficiency 3
-
FERMT3 p.Pro505Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
FERMT3 p.Ser14Trp
Uncertain significance
Single submitter
leukocyte adhesion deficiency 3
-
FERMT3 p.Ser255Arg
Uncertain significance
Single submitter
leukocyte adhesion deficiency 3
-
FERMT3 p.Ser345Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- FERMT3 p.Ser531Leu Uncertain significance Single submitter
-
FERMT3 p.Ser545Phe
Uncertain significance
Single submitter
leukocyte adhesion deficiency 3
-
FERMT3 p.Thr37Ile
Uncertain significance
Single submitter
leukocyte adhesion deficiency 3
-
FERMT3 p.Tyr383Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
FERMT3 p.Tyr432Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
FERMT3 p.Tyr630Cys
Uncertain significance
Single submitter
leukocyte adhesion deficiency 3
-
FERMT3 p.Val266Met
Uncertain significance
Single submitter
Inborn genetic diseases
All FERMT3 variants
Pathogenic 18
- c.1029+2T>C Single submitter leukocyte adhesion deficiency 3
- p.Asp393fs Single submitter leukocyte adhesion deficiency 3
- p.Gln476Ter Single submitter leukocyte adhesion deficiency 3
- p.Gln75fs Single submitter leukocyte adhesion deficiency 3
- p.Glu283fs Single submitter leukocyte adhesion deficiency 3
- p.Glu534fs Single submitter leukocyte adhesion deficiency 3
- p.His488fs Single submitter leukocyte adhesion deficiency 3
- p.Lys222fs Single submitter leukocyte adhesion deficiency 3
- p.Met181fs Single submitter leukocyte adhesion deficiency 3
- p.Trp16Ter Single submitter leukocyte adhesion deficiency
- p.Tyr272fs Single submitter leukocyte adhesion deficiency 3
- p.Tyr432Ter Single submitter leukocyte adhesion deficiency 3
- c.161-2A>C No assertion criteria leukocyte adhesion deficiency 3
- c.1671-2A>G No assertion criteria leukocyte adhesion deficiency 3
- p.Arg509Ter No assertion criteria leukocyte adhesion deficiency 3
- p.Glu426fs No assertion criteria leukocyte adhesion deficiency 3
- p.Ser307fs No assertion criteria leukocyte adhesion deficiency 3
- p.Trp229Ter No assertion criteria leukocyte adhesion deficiency 3
Pathogenic/Likely pathogenic 1
- p.Arg573Ter Multiple submitters leukocyte adhesion deficiency 3
Likely pathogenic 6
- c.1204+1G>T Single submitter leukocyte adhesion deficiency 3
- c.1312-2A>C Single submitter leukocyte adhesion deficiency 3
- c.1671-4_1671del Single submitter leukocyte adhesion deficiency 3
- c.684-1G>A Single submitter leukocyte adhesion deficiency 3
- c.786+1G>T Single submitter leukocyte adhesion deficiency 3
- c.787-14_788del Single submitter leukocyte adhesion deficiency 3
Conflicting classifications of pathogenicity 14
- c.515-5T>A Single submitter leukocyte adhesion deficiency 3
- p.Ala176Val Single submitter Inborn genetic diseases ⚠
- p.Ala246Thr Single submitter Inborn genetic diseases ⚠
- p.Arg107His Single submitter leukocyte adhesion deficiency 3 ⚠
- p.Arg111Cys Single submitter leukocyte adhesion deficiency 3 ⚠
- p.Arg477His Single submitter Inborn genetic diseases ⚠
- p.Gln396= Single submitter leukocyte adhesion deficiency 3
- p.Gln508Pro Single submitter Inborn genetic diseases
- p.Ile631= Single submitter leukocyte adhesion deficiency 3
- p.Leu236= Single submitter leukocyte adhesion deficiency 3
- p.Pro203Ser Single submitter leukocyte adhesion deficiency 3 ⚠
- p.Pro205= Single submitter leukocyte adhesion deficiency 3
- p.Ser386Arg Single submitter leukocyte adhesion deficiency 3 ⚠
- p.Val100Ile Single submitter leukocyte adhesion deficiency 3 ⚠
Benign 21
- c.1030-12G>C Multiple submitters leukocyte adhesion deficiency 3
- c.1080-24C>T Multiple submitters
- c.1205-51A>T Multiple submitters
- c.1545+58C>T Multiple submitters
- c.1546-148G>A Multiple submitters
- c.161-16C>G Multiple submitters leukocyte adhesion deficiency 3
- c.1671-15C>G Multiple submitters leukocyte adhesion deficiency 3
- c.787-10C>A Multiple submitters leukocyte adhesion deficiency 3
- c.895-4C>T Multiple submitters leukocyte adhesion deficiency 3
- p.Ala243= Multiple submitters leukocyte adhesion deficiency 3
- p.Glu465Lys Multiple submitters leukocyte adhesion deficiency 3
- p.His135= Multiple submitters leukocyte adhesion deficiency 3
- p.Leu502= Multiple submitters leukocyte adhesion deficiency 3
- p.Pro483= Multiple submitters leukocyte adhesion deficiency 3
- c.1312-11del Single submitter leukocyte adhesion deficiency 3
- c.161-136C>T Single submitter
- c.1671-14T>C Single submitter leukocyte adhesion deficiency 3
- c.1671-218G>A Single submitter
- c.787-8del Single submitter leukocyte adhesion deficiency 3
- c.787-8dup Single submitter leukocyte adhesion deficiency 3
- p.Leu574= Single submitter leukocyte adhesion deficiency 3
Benign/Likely benign 18
- c.1029+14C>T Multiple submitters leukocyte adhesion deficiency 3
- c.1545+13G>A Multiple submitters leukocyte adhesion deficiency 3
- c.161-11G>A Multiple submitters leukocyte adhesion deficiency 3
- c.1813-15_1813-14del Multiple submitters leukocyte adhesion deficiency 3
- c.515-7A>T Multiple submitters leukocyte adhesion deficiency 3
- c.684-10C>G Multiple submitters leukocyte adhesion deficiency 3
- c.684-5C>G Multiple submitters leukocyte adhesion deficiency 3
- p.Ala468= Multiple submitters leukocyte adhesion deficiency 3
- p.Asp564= Multiple submitters leukocyte adhesion deficiency 3
- p.Gln439= Multiple submitters leukocyte adhesion deficiency 3
- p.Gln440= Multiple submitters leukocyte adhesion deficiency 3
- p.Gly3= Multiple submitters leukocyte adhesion deficiency 3
- p.Gly44Arg Multiple submitters leukocyte adhesion deficiency 3
- p.Lys69Thr Multiple submitters leukocyte adhesion deficiency 3
- p.Ser307= Multiple submitters leukocyte adhesion deficiency 3
- p.Ser638= Multiple submitters leukocyte adhesion deficiency 3
- p.Thr639= Multiple submitters leukocyte adhesion deficiency 3
- p.Tyr83= Multiple submitters leukocyte adhesion deficiency 3
Likely benign 279
- c.1030-9C>G Multiple submitters leukocyte adhesion deficiency 3
- c.1079+11G>T Multiple submitters leukocyte adhesion deficiency 3
- c.1080-16C>G Multiple submitters leukocyte adhesion deficiency 3
- c.1080-17C>T Multiple submitters leukocyte adhesion deficiency 3
- c.1080-5C>T Multiple submitters leukocyte adhesion deficiency 3
- c.1311+9G>A Multiple submitters leukocyte adhesion deficiency 3
- c.1312-6G>A Multiple submitters leukocyte adhesion deficiency 3
- c.1546-6C>T Multiple submitters leukocyte adhesion deficiency 3
- c.160+10C>T Multiple submitters leukocyte adhesion deficiency 3
- c.161-12C>T Multiple submitters leukocyte adhesion deficiency 3
- c.161-16C>T Multiple submitters leukocyte adhesion deficiency 3
- c.1813-13G>A Multiple submitters leukocyte adhesion deficiency 3
- c.394+12G>A Multiple submitters leukocyte adhesion deficiency 3
- c.683+17C>G Multiple submitters leukocyte adhesion deficiency 3
- c.683+18G>A Multiple submitters leukocyte adhesion deficiency 3
- c.786+10G>T Multiple submitters leukocyte adhesion deficiency 3
- c.787-8C>T Multiple submitters leukocyte adhesion deficiency 3
- c.894+10G>A Multiple submitters leukocyte adhesion deficiency 3
- c.895-5C>T Multiple submitters leukocyte adhesion deficiency 3
- p.Ala295= Multiple submitters leukocyte adhesion deficiency 3
- p.Ala458= Multiple submitters leukocyte adhesion deficiency 3
- p.Ala528= Multiple submitters leukocyte adhesion deficiency 3
- p.Ala580= Multiple submitters leukocyte adhesion deficiency 3
- p.Ala7= Multiple submitters leukocyte adhesion deficiency 3
- p.Arg108= Multiple submitters leukocyte adhesion deficiency 3
- p.Asp245= Multiple submitters leukocyte adhesion deficiency 3
- p.Asp321= Multiple submitters leukocyte adhesion deficiency 3
- p.Asp583= Multiple submitters leukocyte adhesion deficiency 3
- p.Glu25= Multiple submitters leukocyte adhesion deficiency 3
- p.Gly43= Multiple submitters leukocyte adhesion deficiency 3
- p.Gly501= Multiple submitters leukocyte adhesion deficiency 3
- p.His488= Multiple submitters leukocyte adhesion deficiency 3
- p.Ile101= Multiple submitters leukocyte adhesion deficiency 3
- p.Ile53Met Multiple submitters leukocyte adhesion deficiency 3
- p.Ile569= Multiple submitters leukocyte adhesion deficiency 3
- p.Ile607= Multiple submitters leukocyte adhesion deficiency 3
- p.Lys48Asn Multiple submitters leukocyte adhesion deficiency 3
- p.Phe257= Multiple submitters leukocyte adhesion deficiency 3
- p.Phe549= Multiple submitters leukocyte adhesion deficiency 3
- p.Pro105= Multiple submitters leukocyte adhesion deficiency 3
- p.Pro214= Multiple submitters leukocyte adhesion deficiency 3
- p.Ser14= Multiple submitters leukocyte adhesion deficiency 3
- p.Ser545= Multiple submitters leukocyte adhesion deficiency 3
- p.Thr287= Multiple submitters leukocyte adhesion deficiency 3
- p.Thr37= Multiple submitters leukocyte adhesion deficiency 3
- p.Thr478= Multiple submitters leukocyte adhesion deficiency 3
- p.Val310= Multiple submitters leukocyte adhesion deficiency 3
- c.1029+11G>C Single submitter leukocyte adhesion deficiency 3
- c.1029+18G>A Single submitter leukocyte adhesion deficiency 3
- c.1029+19C>G Single submitter leukocyte adhesion deficiency 3
- c.1029+20A>G Single submitter leukocyte adhesion deficiency 3
- c.1030-12G>A Single submitter leukocyte adhesion deficiency 3
- c.1030-16T>G Single submitter leukocyte adhesion deficiency 3
- c.1030-20T>C Single submitter leukocyte adhesion deficiency 3
- c.1030-7C>T Single submitter leukocyte adhesion deficiency 3
- c.1079+10G>T Single submitter leukocyte adhesion deficiency 3
- c.1079+8G>T Single submitter leukocyte adhesion deficiency 3
- c.1080-12C>T Single submitter leukocyte adhesion deficiency 3
- c.1080-15C>T Single submitter leukocyte adhesion deficiency 3
- c.1080-17C>G Single submitter leukocyte adhesion deficiency 3
- c.1080-18C>A Single submitter leukocyte adhesion deficiency 3
- c.1080-18C>T Single submitter
- c.1080-4G>A Single submitter leukocyte adhesion deficiency 3
- c.1080-9C>T Single submitter leukocyte adhesion deficiency 3
- c.1204+8C>T Single submitter
- c.1205-16C>T Single submitter leukocyte adhesion deficiency 3
- c.1205-24_1205-16del Single submitter leukocyte adhesion deficiency 3
- c.1205-7C>T Single submitter leukocyte adhesion deficiency 3
- c.1311+10G>A Single submitter leukocyte adhesion deficiency 3
- c.1311+11dup Single submitter leukocyte adhesion deficiency 3
- c.1312-13C>T Single submitter leukocyte adhesion deficiency 3
- c.1312-18C>T Single submitter leukocyte adhesion deficiency 3
- c.1312-7C>T Single submitter leukocyte adhesion deficiency 3
- c.1545+10G>A Single submitter leukocyte adhesion deficiency 3
- c.1545+12C>T Single submitter leukocyte adhesion deficiency 3
- c.1545+14_1545+17del Single submitter leukocyte adhesion deficiency 3
- c.1545+14T>C Single submitter leukocyte adhesion deficiency 3
- c.1545+17G>C Single submitter leukocyte adhesion deficiency 3
- c.1545+18G>T Single submitter leukocyte adhesion deficiency 3
- c.1545+19G>A Single submitter leukocyte adhesion deficiency 3
- c.1546-12A>G Single submitter leukocyte adhesion deficiency 3
- c.1546-15A>G Single submitter leukocyte adhesion deficiency 3
- c.1546-5C>T Single submitter leukocyte adhesion deficiency 3
- c.160+11G>A Single submitter leukocyte adhesion deficiency 3
- c.160+14G>A Single submitter leukocyte adhesion deficiency 3
- c.160+15C>T Single submitter leukocyte adhesion deficiency 3
- c.160+17C>G Single submitter leukocyte adhesion deficiency 3
- c.160+17C>T Single submitter
- c.160+18G>A Single submitter
- c.161-15C>G Single submitter leukocyte adhesion deficiency 3
- c.161-20T>C Single submitter leukocyte adhesion deficiency 3
- c.161-5C>T Single submitter leukocyte adhesion deficiency 3
- c.161-6C>T Single submitter leukocyte adhesion deficiency 3
- c.161-7C>T Single submitter leukocyte adhesion deficiency 3
- c.1670+10C>T Single submitter leukocyte adhesion deficiency 3
- c.1670+19C>A Single submitter leukocyte adhesion deficiency 3
- c.1671-11C>T Single submitter leukocyte adhesion deficiency 3
- c.1671-17C>G Single submitter leukocyte adhesion deficiency 3
- c.1671-17C>T Single submitter leukocyte adhesion deficiency 3
- c.1671-18T>A Single submitter leukocyte adhesion deficiency 3
- c.1671-19C>G Single submitter leukocyte adhesion deficiency 3
- c.1812+12C>T Single submitter leukocyte adhesion deficiency 3
- c.1812+13C>A Single submitter leukocyte adhesion deficiency 3
- c.1812+18G>A Single submitter leukocyte adhesion deficiency 3
- c.1812+8C>T Single submitter leukocyte adhesion deficiency 3
- c.1813-17C>T Single submitter leukocyte adhesion deficiency 3
- c.394+11C>T Single submitter leukocyte adhesion deficiency 3
- c.394+19T>G Single submitter leukocyte adhesion deficiency 3
- c.394+20C>G Single submitter leukocyte adhesion deficiency 3
- c.395-10C>T Single submitter leukocyte adhesion deficiency 3
- c.514+13G>C Single submitter leukocyte adhesion deficiency 3
- c.514+13G>T Single submitter leukocyte adhesion deficiency 3
- c.514+15G>A Single submitter leukocyte adhesion deficiency 3
- c.514+17G>A Single submitter leukocyte adhesion deficiency 3
- c.514+20G>A Single submitter leukocyte adhesion deficiency 3
- c.515-10T>G Single submitter leukocyte adhesion deficiency 3
- c.515-11C>G Single submitter leukocyte adhesion deficiency 3
- c.515-16C>G Single submitter leukocyte adhesion deficiency 3
- c.515-8C>A Single submitter leukocyte adhesion deficiency 3
- c.683+17C>T Single submitter leukocyte adhesion deficiency 3
- c.683+19C>G Single submitter leukocyte adhesion deficiency 3
- c.683+20C>T Single submitter leukocyte adhesion deficiency 3
- c.683+8C>G Single submitter leukocyte adhesion deficiency 3
- c.684-10C>T Single submitter leukocyte adhesion deficiency 3
- c.684-19T>C Single submitter leukocyte adhesion deficiency 3
- c.684-6G>T Single submitter leukocyte adhesion deficiency 3
- c.684-8C>T Single submitter leukocyte adhesion deficiency 3
- c.684-9G>A Single submitter leukocyte adhesion deficiency 3
- c.684-9G>T Single submitter leukocyte adhesion deficiency 3
- c.786+16G>A Single submitter leukocyte adhesion deficiency 3
- c.786+18G>A Single submitter leukocyte adhesion deficiency 3
- c.786+18G>C Single submitter leukocyte adhesion deficiency 3
- c.786+7C>T Single submitter leukocyte adhesion deficiency 3
- c.786+8G>A Single submitter leukocyte adhesion deficiency 3
- c.787-10C>T Single submitter leukocyte adhesion deficiency 3
- c.787-12C>T Single submitter leukocyte adhesion deficiency 3
- c.787-13C>T Single submitter leukocyte adhesion deficiency 3
- c.787-20C>T Single submitter leukocyte adhesion deficiency 3
- c.787-7G>A Single submitter leukocyte adhesion deficiency 3
- c.787-8C>G Single submitter leukocyte adhesion deficiency 3
- c.787-9C>T Single submitter leukocyte adhesion deficiency 3
- c.894+16G>A Single submitter leukocyte adhesion deficiency 3
- c.894+20G>A Single submitter leukocyte adhesion deficiency 3
- c.894+9C>A Single submitter leukocyte adhesion deficiency 3
- c.895-19T>C Single submitter leukocyte adhesion deficiency 3
- p.Ala123= Single submitter leukocyte adhesion deficiency 3
- p.Ala144= Single submitter leukocyte adhesion deficiency 3
- p.Ala170= Single submitter leukocyte adhesion deficiency 3
- p.Ala2= Single submitter leukocyte adhesion deficiency 3
- p.Ala29= Single submitter leukocyte adhesion deficiency 3
- p.Ala338= Single submitter leukocyte adhesion deficiency 3
- p.Ala390= Single submitter leukocyte adhesion deficiency 3
- p.Ala451= Single submitter leukocyte adhesion deficiency 3
- p.Ala504= Single submitter leukocyte adhesion deficiency 3
- p.Ala622= Single submitter leukocyte adhesion deficiency 3
- p.Ala87= Single submitter leukocyte adhesion deficiency 3
- p.Arg143= Single submitter leukocyte adhesion deficiency 3
- p.Arg215= Single submitter
- p.Arg234= Single submitter leukocyte adhesion deficiency 3
- p.Arg267= Single submitter leukocyte adhesion deficiency 3
- p.Arg443= Single submitter
- p.Arg443His Single submitter Inborn genetic diseases ⚠
- p.Arg509= Single submitter leukocyte adhesion deficiency 3
- p.Arg562= Single submitter leukocyte adhesion deficiency 3
- p.Arg640= Single submitter leukocyte adhesion deficiency 3
- p.Arg642= Single submitter leukocyte adhesion deficiency 3
- p.Arg98= Single submitter leukocyte adhesion deficiency 3
- p.Asn329= Single submitter leukocyte adhesion deficiency 3
- p.Asn410= Single submitter leukocyte adhesion deficiency 3
- p.Asn526= Single submitter leukocyte adhesion deficiency 3
- p.Asn614= Single submitter leukocyte adhesion deficiency 3
- p.Asp221= Single submitter
- p.Asp278= Single submitter leukocyte adhesion deficiency 3
- p.Asp388= Single submitter leukocyte adhesion deficiency 3
- p.Asp393= Single submitter leukocyte adhesion deficiency 3
- p.Asp459= Single submitter leukocyte adhesion deficiency 3
- p.Asp88= Single submitter leukocyte adhesion deficiency 3
- p.Cys417= Single submitter leukocyte adhesion deficiency 3
- p.Cys619= Single submitter leukocyte adhesion deficiency 3
- p.Gln371= Single submitter leukocyte adhesion deficiency 3
- p.Glu154= Single submitter
- p.Glu156= Single submitter leukocyte adhesion deficiency 3
- p.Glu28= Single submitter leukocyte adhesion deficiency 3
- p.Glu30= Single submitter leukocyte adhesion deficiency 3
- p.Glu438= Single submitter leukocyte adhesion deficiency 3
- p.Glu522= Single submitter
- p.Glu661= Single submitter leukocyte adhesion deficiency 3
- p.Gly172= Single submitter leukocyte adhesion deficiency 3
- p.Gly180= Single submitter leukocyte adhesion deficiency 3
- p.Gly368= Single submitter leukocyte adhesion deficiency 3
- p.Gly413= Single submitter leukocyte adhesion deficiency 3
- p.Gly454= Single submitter leukocyte adhesion deficiency 3
- p.Gly481= Single submitter leukocyte adhesion deficiency 3
- p.Gly550= Single submitter leukocyte adhesion deficiency 3
- p.Gly582= Single submitter leukocyte adhesion deficiency 3
- p.Gly632= Single submitter leukocyte adhesion deficiency 3
- p.Gly659= Single submitter leukocyte adhesion deficiency 3
- p.Gly84= Single submitter leukocyte adhesion deficiency 3
- p.Gly9= Single submitter leukocyte adhesion deficiency 3
- p.His184= Single submitter leukocyte adhesion deficiency 3
- p.His488Gln Single submitter Inborn genetic diseases
- p.His628= Single submitter leukocyte adhesion deficiency 3
- p.Ile12= Single submitter leukocyte adhesion deficiency 3
- p.Ile133= Single submitter leukocyte adhesion deficiency 3
- p.Ile349= Single submitter leukocyte adhesion deficiency 3
- p.Ile42= Single submitter leukocyte adhesion deficiency 3
- p.Ile540= Single submitter leukocyte adhesion deficiency 3
- p.Ile575= Single submitter leukocyte adhesion deficiency 3
- p.Ile577= Single submitter leukocyte adhesion deficiency 3
- p.Ile613= Single submitter leukocyte adhesion deficiency 3
- p.Ile635= Single submitter leukocyte adhesion deficiency 3
- p.Leu141= Single submitter leukocyte adhesion deficiency 3
- p.Leu161= Single submitter leukocyte adhesion deficiency 3
- p.Leu177= Single submitter leukocyte adhesion deficiency 3
- p.Leu198= Single submitter leukocyte adhesion deficiency 3
- p.Leu219= Single submitter leukocyte adhesion deficiency 3
- p.Leu281= Single submitter leukocyte adhesion deficiency 3
- p.Leu297= Single submitter leukocyte adhesion deficiency 3
- p.Leu304= Single submitter leukocyte adhesion deficiency 3
- p.Leu327= Single submitter leukocyte adhesion deficiency 3
- p.Leu34= Single submitter leukocyte adhesion deficiency 3
- p.Leu364= Single submitter
- p.Leu398Phe Single submitter leukocyte adhesion deficiency 3
- p.Leu420= Single submitter leukocyte adhesion deficiency 3
- p.Leu46= Single submitter leukocyte adhesion deficiency 3
- p.Leu470= Single submitter leukocyte adhesion deficiency 3
- p.Leu497= Single submitter leukocyte adhesion deficiency 3
- p.Leu516= Single submitter leukocyte adhesion deficiency 3
- p.Leu532= Single submitter leukocyte adhesion deficiency 3
- p.Leu537= Single submitter leukocyte adhesion deficiency 3
- p.Leu567= Single submitter leukocyte adhesion deficiency 3
- p.Leu579= Single submitter leukocyte adhesion deficiency 3
- p.Leu637= Single submitter leukocyte adhesion deficiency 3
- p.Leu656= Single submitter leukocyte adhesion deficiency 3
- p.Leu73= Single submitter leukocyte adhesion deficiency 3
- p.Leu86= Single submitter leukocyte adhesion deficiency 3
- p.Leu91= Single submitter leukocyte adhesion deficiency 3
- p.Lys148= Single submitter leukocyte adhesion deficiency 3
- p.Lys150= Single submitter leukocyte adhesion deficiency 3
- p.Lys222= Single submitter
- p.Lys252= Single submitter leukocyte adhesion deficiency 3
- p.Lys48= Single submitter leukocyte adhesion deficiency 3
- p.Phe178= Single submitter leukocyte adhesion deficiency 3
- p.Phe376= Single submitter leukocyte adhesion deficiency 3
- p.Phe636= Single submitter leukocyte adhesion deficiency 3
- p.Pro119= Single submitter leukocyte adhesion deficiency 3
- p.Pro136= Single submitter leukocyte adhesion deficiency 3
- p.Pro145= Single submitter leukocyte adhesion deficiency 3
- p.Pro203= Single submitter leukocyte adhesion deficiency 3
- p.Pro265= Single submitter leukocyte adhesion deficiency 3
- p.Pro313= Single submitter leukocyte adhesion deficiency 3
- p.Pro350= Single submitter leukocyte adhesion deficiency 3
- p.Pro361= Single submitter leukocyte adhesion deficiency 3
- p.Pro407= Single submitter leukocyte adhesion deficiency 3
- p.Pro423= Single submitter leukocyte adhesion deficiency 3
- p.Pro499= Single submitter leukocyte adhesion deficiency 3
- p.Pro547= Single submitter
- p.Ser117= Single submitter leukocyte adhesion deficiency 3
- p.Ser140= Single submitter leukocyte adhesion deficiency 3
- p.Ser15= Single submitter leukocyte adhesion deficiency 3
- p.Ser188= Single submitter leukocyte adhesion deficiency 3
- p.Ser220= Single submitter leukocyte adhesion deficiency 3
- p.Ser233= Single submitter leukocyte adhesion deficiency 3
- p.Ser31= Single submitter leukocyte adhesion deficiency 3
- p.Ser337= Single submitter leukocyte adhesion deficiency 3
- p.Ser40= Single submitter leukocyte adhesion deficiency 3
- p.Ser412= Single submitter leukocyte adhesion deficiency 3
- p.Ser464= Single submitter leukocyte adhesion deficiency 3
- p.Ser474= Single submitter leukocyte adhesion deficiency 3
- p.Ser531= Single submitter leukocyte adhesion deficiency 3
- p.Ser8= Single submitter leukocyte adhesion deficiency 3
- p.Thr365= Single submitter leukocyte adhesion deficiency 3
- p.Thr463= Single submitter leukocyte adhesion deficiency 3
- p.Thr6= Single submitter leukocyte adhesion deficiency 3
- p.Thr76= Single submitter leukocyte adhesion deficiency 3
- p.Tyr195= Single submitter leukocyte adhesion deficiency 3
- p.Tyr384= Single submitter leukocyte adhesion deficiency 3
- p.Val581= Single submitter leukocyte adhesion deficiency 3
- p.Thr657= No assertion criteria FERMT3-related disorder
Uncertain significance 254
- p.Ala109Thr Multiple submitters leukocyte adhesion deficiency 3 ⚠
- p.Ala338Val Multiple submitters leukocyte adhesion deficiency 3 ⚠
- p.Ala570Thr Multiple submitters Inborn genetic diseases ⚠
- p.Arg103Gln Multiple submitters leukocyte adhesion deficiency 3 ⚠
- p.Arg111His Multiple submitters leukocyte adhesion deficiency ⚠
- p.Arg129His Multiple submitters leukocyte adhesion deficiency 3 ⚠
- p.Arg179Leu Multiple submitters leukocyte adhesion deficiency 3 ⚠
- p.Arg179Trp Multiple submitters leukocyte adhesion deficiency 3 ⚠
- p.Arg19Gln Multiple submitters leukocyte adhesion deficiency 3 ⚠
- p.Arg200Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg212His Multiple submitters Inborn genetic diseases ⚠
- p.Arg234Trp Multiple submitters Inborn genetic diseases
- p.Arg506Cys Multiple submitters leukocyte adhesion deficiency 3 ⚠
- p.Arg506Ser Multiple submitters leukocyte adhesion deficiency 3 ⚠
- p.Arg538Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg538His Multiple submitters leukocyte adhesion deficiency 3 ⚠
- p.Arg55His Multiple submitters leukocyte adhesion deficiency 3 ⚠
- p.Arg573Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg603Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg640Trp Multiple submitters leukocyte adhesion deficiency 3 ⚠
- p.Arg644His Multiple submitters leukocyte adhesion deficiency 3 ⚠
- p.Arg90Cys Multiple submitters leukocyte adhesion deficiency 3 ⚠
- p.Arg90His Multiple submitters leukocyte adhesion deficiency 3 ⚠
- p.Asp13Asn Multiple submitters leukocyte adhesion deficiency 3 ⚠
- p.Asp206Asn Multiple submitters Inborn genetic diseases ⚠
- p.Asp408Asn Multiple submitters leukocyte adhesion deficiency 3 ⚠
- p.Asp491Ala Multiple submitters leukocyte adhesion deficiency 3 ⚠
- p.Asp583Asn Multiple submitters leukocyte adhesion deficiency 3 ⚠
- p.Asp610Asn Multiple submitters Inborn genetic diseases ⚠
- p.Asp88Asn Multiple submitters leukocyte adhesion deficiency 3 ⚠
- p.Gln190Glu Multiple submitters Inborn genetic diseases ⚠
- p.Gln467Arg Multiple submitters Inborn genetic diseases ⚠
- p.Glu137Lys Multiple submitters leukocyte adhesion deficiency 3 ⚠
- p.Glu389Lys Multiple submitters Inborn genetic diseases ⚠
- p.Glu629Asp Multiple submitters Inborn genetic diseases ⚠
- p.Gly244Glu Multiple submitters Inborn genetic diseases ⚠
- p.Gly413Ser Multiple submitters Inborn genetic diseases ⚠
- p.Gly454Asp Multiple submitters leukocyte adhesion deficiency 3 ⚠
- p.Gly489Ser Multiple submitters leukocyte adhesion deficiency 3 ⚠
- p.Leu18Val Multiple submitters Inborn genetic diseases ⚠
- p.Leu210His Multiple submitters Inborn genetic diseases ⚠
- p.Lys153del Multiple submitters leukocyte adhesion deficiency 3
- p.Phe359Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro203Leu Multiple submitters FERMT3-related disorder ⚠
- p.Pro313Leu Multiple submitters leukocyte adhesion deficiency 3 ⚠
- p.Pro483Leu Multiple submitters leukocyte adhesion deficiency 3 ⚠
- p.Trp373Cys Multiple submitters Inborn genetic diseases ⚠
- p.Val173Met Multiple submitters leukocyte adhesion deficiency 3 ⚠
- p.Val409Ile Multiple submitters leukocyte adhesion deficiency 3 ⚠
- p.Val411Ile Multiple submitters leukocyte adhesion deficiency 3 ⚠
- p.Val581Met Multiple submitters leukocyte adhesion deficiency 3 ⚠
- p.Val605Met Multiple submitters Inborn genetic diseases ⚠
- c.1029+6G>T Single submitter leukocyte adhesion deficiency 3
- c.1030-3T>C Single submitter leukocyte adhesion deficiency 3
- c.1205-3C>T Single submitter leukocyte adhesion deficiency 3
- c.1311+13_1311+29del Single submitter leukocyte adhesion deficiency 3
- c.1311+6T>G Single submitter leukocyte adhesion deficiency 3
- c.1545+5C>T Single submitter leukocyte adhesion deficiency 3
- c.514+4A>G Single submitter leukocyte adhesion deficiency 3
- c.683+5A>C Single submitter leukocyte adhesion deficiency 3
- c.787-8C>A Single submitter leukocyte adhesion deficiency 3
- c.894+9C>T Single submitter leukocyte adhesion deficiency 3
- c.-14-9T>A Single submitter
- p.Ala144Gly Single submitter leukocyte adhesion deficiency 3 ⚠
- p.Ala174Val Single submitter leukocyte adhesion deficiency 3 ⚠
- p.Ala189Thr Single submitter leukocyte adhesion deficiency 3 ⚠
- p.Ala243Gly Single submitter leukocyte adhesion deficiency 3 ⚠
- p.Ala246Val Single submitter leukocyte adhesion deficiency 3 ⚠
- p.Ala296Thr Single submitter leukocyte adhesion deficiency 3 ⚠
- p.Ala29Val Single submitter leukocyte adhesion deficiency 3 ⚠
- p.Ala2Val Single submitter leukocyte adhesion deficiency 3 ⚠
- p.Ala314Val Single submitter leukocyte adhesion deficiency 3 ⚠
- p.Ala390Gly Single submitter Inborn genetic diseases ⚠
- p.Ala451Gly Single submitter leukocyte adhesion deficiency 3 ⚠
- p.Ala580Thr Single submitter leukocyte adhesion deficiency 3 ⚠
- p.Ala89Thr Single submitter Inborn genetic diseases ⚠
- p.Arg103Trp Single submitter leukocyte adhesion deficiency 3 ⚠
- p.Arg108His Single submitter leukocyte adhesion deficiency 3 ⚠
- p.Arg129Cys Single submitter Inborn genetic diseases ⚠
- p.Arg134Gln Single submitter ⚠
- p.Arg143Gln Single submitter Inborn genetic diseases ⚠
- p.Arg143Trp Single submitter leukocyte adhesion deficiency 3 ⚠
- p.Arg179Gln Single submitter leukocyte adhesion deficiency 3 ⚠
- p.Arg19Leu Single submitter leukocyte adhesion deficiency 3 ⚠
- p.Arg200Trp Single submitter leukocyte adhesion deficiency 3 ⚠
- p.Arg212Cys Single submitter leukocyte adhesion deficiency 3 ⚠
- p.Arg215Gln Single submitter leukocyte adhesion deficiency 3 ⚠
- p.Arg215Leu Single submitter leukocyte adhesion deficiency 3 ⚠
- p.Arg215Trp Single submitter leukocyte adhesion deficiency 3 ⚠
- p.Arg234Gln Single submitter Inborn genetic diseases ⚠
- p.Arg250Cys Single submitter leukocyte adhesion deficiency 3 ⚠
- p.Arg250His Single submitter leukocyte adhesion deficiency 3 ⚠
- p.Arg250Leu Single submitter leukocyte adhesion deficiency 3 ⚠
- p.Arg276Gln Single submitter leukocyte adhesion deficiency 3
- p.Arg276Trp Single submitter Inborn genetic diseases ⚠
- p.Arg357Gln Single submitter leukocyte adhesion deficiency 3 ⚠
- p.Arg35Leu Single submitter leukocyte adhesion deficiency 3
- p.Arg360Trp Single submitter Inborn genetic diseases ⚠
- p.Arg370Cys Single submitter leukocyte adhesion deficiency 3
- p.Arg370His Single submitter Inborn genetic diseases ⚠
- p.Arg434Gln Single submitter leukocyte adhesion deficiency 3 ⚠
- p.Arg449Cys Single submitter Inborn genetic diseases ⚠
- p.Arg455Cys Single submitter leukocyte adhesion deficiency 3 ⚠
- p.Arg455His Single submitter leukocyte adhesion deficiency 3 ⚠
- p.Arg477Cys Single submitter Inborn genetic diseases ⚠
- p.Arg509Gln Single submitter Inborn genetic diseases
- p.Arg55Ser Single submitter leukocyte adhesion deficiency 3 ⚠
- p.Arg576Cys Single submitter leukocyte adhesion deficiency 3 ⚠
- p.Arg589Leu Single submitter leukocyte adhesion deficiency 3 ⚠
- p.Arg603Trp Single submitter leukocyte adhesion deficiency 3 ⚠
- p.Arg625Ter Single submitter leukocyte adhesion deficiency 3
- p.Arg640Gly Single submitter leukocyte adhesion deficiency 3
- p.Arg642Gln Single submitter ⚠
- p.Arg642Trp Single submitter leukocyte adhesion deficiency 3 ⚠
- p.Arg644Pro Single submitter leukocyte adhesion deficiency 3 ⚠
- p.Asn485Ser Single submitter leukocyte adhesion deficiency 3 ⚠
- p.Asn54Asp Single submitter leukocyte adhesion deficiency 3 ⚠
- p.Asn571Ile Single submitter leukocyte adhesion deficiency 3
- p.Asn572Ser Single submitter leukocyte adhesion deficiency 3 ⚠
- p.Asn597fs Single submitter leukocyte adhesion deficiency 3
- p.Asn614Ser Single submitter leukocyte adhesion deficiency 3 ⚠
- p.Asp10Asn Single submitter leukocyte adhesion deficiency 3 ⚠
- p.Asp187Gly Single submitter leukocyte adhesion deficiency 3 ⚠
- p.Asp221Glu Single submitter Inborn genetic diseases ⚠
- p.Asp245His Single submitter leukocyte adhesion deficiency 3
- p.Asp258Asn Single submitter leukocyte adhesion deficiency 3 ⚠
- p.Asp264His Single submitter leukocyte adhesion deficiency 3 ⚠
- p.Asp278His Single submitter leukocyte adhesion deficiency 3 ⚠
- p.Asp322Asn Single submitter leukocyte adhesion deficiency 3
- p.Asp344Tyr Single submitter leukocyte adhesion deficiency 3 ⚠
- p.Asp459Asn Single submitter leukocyte adhesion deficiency 3
- p.Asp491His Single submitter leukocyte adhesion deficiency 3 ⚠
- p.Asp548Asn Single submitter leukocyte adhesion deficiency 3 ⚠
- p.Asp578Asn Single submitter leukocyte adhesion deficiency 3 ⚠
- p.Asp583Glu Single submitter leukocyte adhesion deficiency 3 ⚠
- p.Asp583His Single submitter Inborn genetic diseases
- p.Gln122Arg Single submitter ⚠
- p.Gln396Arg Single submitter leukocyte adhesion deficiency 3 ⚠
- p.Gln515Ter Single submitter leukocyte adhesion deficiency 3
- p.Gln52Arg Single submitter leukocyte adhesion deficiency 3 ⚠
- p.Gln52His Single submitter ⚠
- p.Gln71His Single submitter leukocyte adhesion deficiency 3 ⚠
- p.Gln96Arg Single submitter Inborn genetic diseases ⚠
- p.Glu149Lys Single submitter leukocyte adhesion deficiency 3 ⚠
- p.Glu154Gln Single submitter Inborn genetic diseases ⚠
- p.Glu158Gln Single submitter Inborn genetic diseases ⚠
- p.Glu159Lys Single submitter leukocyte adhesion deficiency 3 ⚠
- p.Glu160Val Single submitter leukocyte adhesion deficiency 3 ⚠
- p.Glu25Gly Single submitter leukocyte adhesion deficiency 3 ⚠
- p.Glu283Asp Single submitter leukocyte adhesion deficiency 3 ⚠
- p.Glu288Lys Single submitter leukocyte adhesion deficiency 3 ⚠
- p.Glu312Asp Single submitter Inborn genetic diseases ⚠
- p.Glu331Ala Single submitter leukocyte adhesion deficiency 3 ⚠
- p.Glu495Lys Single submitter leukocyte adhesion deficiency 3 ⚠
- p.Glu522Asp Single submitter leukocyte adhesion deficiency 3
- p.Glu534Lys Single submitter Inborn genetic diseases
- p.Glu608Gly Single submitter leukocyte adhesion deficiency 3 ⚠
- p.Gly171Arg Single submitter leukocyte adhesion deficiency 3 ⚠
- p.Gly171Glu Single submitter Inborn genetic diseases ⚠
- p.Gly240Asp Single submitter leukocyte adhesion deficiency 3 ⚠
- p.Gly244Arg Single submitter leukocyte adhesion deficiency 3 ⚠
- p.Gly308Arg Single submitter leukocyte adhesion deficiency 3 ⚠
- p.Gly38Ala Single submitter leukocyte adhesion deficiency 3 ⚠
- p.Gly392Glu Single submitter Inborn genetic diseases ⚠
- p.Gly454Ser Single submitter leukocyte adhesion deficiency 3 ⚠
- p.Gly482Asp Single submitter leukocyte adhesion deficiency 3 ⚠
- p.Gly501Ser Single submitter leukocyte adhesion deficiency 3 ⚠
- p.Gly632Arg Single submitter leukocyte adhesion deficiency 3 ⚠
- p.Gly632Val Single submitter leukocyte adhesion deficiency 3 ⚠
- p.Gly9Arg Single submitter leukocyte adhesion deficiency 3 ⚠
- p.His488Tyr Single submitter Inborn genetic diseases ⚠
- p.His524Gln Single submitter Inborn genetic diseases
- p.His660Arg Single submitter leukocyte adhesion deficiency 3 ⚠
- p.Ile12Val Single submitter leukocyte adhesion deficiency 3 ⚠
- p.Ile301Thr Single submitter leukocyte adhesion deficiency 3 ⚠
- p.Ile301Val Single submitter leukocyte adhesion deficiency 3 ⚠
- p.Ile42Val Single submitter leukocyte adhesion deficiency 3 ⚠
- p.Ile540Leu Single submitter ⚠
- p.Ile577Met Single submitter ⚠
- p.Ile607Val Single submitter leukocyte adhesion deficiency 3 ⚠
- p.Ile635Asn Single submitter leukocyte adhesion deficiency 3 ⚠
- p.Leu130Arg Single submitter leukocyte adhesion deficiency 3 ⚠
- p.Leu131Arg Single submitter Inborn genetic diseases ⚠
- p.Leu161Val Single submitter leukocyte adhesion deficiency 3 ⚠
- p.Leu164Trp Single submitter Inborn genetic diseases ⚠
- p.Leu169Phe Single submitter leukocyte adhesion deficiency 3 ⚠
- p.Leu198Pro Single submitter leukocyte adhesion deficiency 3 ⚠
- p.Leu236Phe Single submitter leukocyte adhesion deficiency 3 ⚠
- p.Leu280Met Single submitter Inborn genetic diseases
- p.Leu323Val Single submitter leukocyte adhesion deficiency 3 ⚠
- p.Leu334Pro Single submitter leukocyte adhesion deficiency 3 ⚠
- p.Leu34Val Single submitter Inborn genetic diseases ⚠
- p.Leu366Val Single submitter Inborn genetic diseases ⚠
- p.Leu47Gln Single submitter leukocyte adhesion deficiency 3 ⚠
- p.Leu502Phe Single submitter leukocyte adhesion deficiency 3 ⚠
- p.Leu637Arg Single submitter leukocyte adhesion deficiency 3 ⚠
- p.Leu652Phe Single submitter leukocyte adhesion deficiency 3
- p.Lys148Asn Single submitter leukocyte adhesion deficiency 3 ⚠
- p.Lys148del Single submitter leukocyte adhesion deficiency 3
- p.Lys150Asn Single submitter Inborn genetic diseases ⚠
- p.Lys242Glu Single submitter leukocyte adhesion deficiency 3 ⚠
- p.Lys262Glu Single submitter Inborn genetic diseases ⚠
- p.Lys401Thr Single submitter leukocyte adhesion deficiency 3 ⚠
- p.Lys419Asn Single submitter Inborn genetic diseases ⚠
- p.Lys563Arg Single submitter leukocyte adhesion deficiency 3 ⚠
- p.Lys563Glu Single submitter Inborn genetic diseases ⚠
- p.Met1Arg Single submitter leukocyte adhesion deficiency 3
- p.Phe257Leu Single submitter Inborn genetic diseases ⚠
- p.Phe416Cys Single submitter leukocyte adhesion deficiency 3 ⚠
- p.Phe507Cys Single submitter leukocyte adhesion deficiency 3 ⚠
- p.Phe636Tyr Single submitter leukocyte adhesion deficiency 3
- p.Phe92Cys Single submitter leukocyte adhesion deficiency 3 ⚠
- p.Pro105Ser Single submitter leukocyte adhesion deficiency 3 ⚠
- p.Pro175Ser Single submitter Inborn genetic diseases ⚠
- p.Pro182Ser Single submitter leukocyte adhesion deficiency 3 ⚠
- p.Pro205Thr Single submitter leukocyte adhesion deficiency 3 ⚠
- p.Pro207Ala Single submitter leukocyte adhesion deficiency 3 ⚠
- p.Pro216Leu Single submitter Inborn genetic diseases ⚠
- p.Pro27Ser Single submitter Inborn genetic diseases ⚠
- p.Pro483Arg Single submitter leukocyte adhesion deficiency 3 ⚠
- p.Pro490_Gly501del Single submitter leukocyte adhesion deficiency 3
- p.Pro505Leu Single submitter Inborn genetic diseases ⚠
- p.Ser140Phe Single submitter leukocyte adhesion deficiency 3 ⚠
- p.Ser14Trp Single submitter leukocyte adhesion deficiency 3 ⚠
- p.Ser186= Single submitter leukocyte adhesion deficiency 3
- p.Ser233Leu Single submitter leukocyte adhesion deficiency 3 ⚠
- p.Ser255Arg Single submitter leukocyte adhesion deficiency 3 ⚠
- p.Ser328Arg Single submitter leukocyte adhesion deficiency 3 ⚠
- p.Ser345Arg Single submitter Inborn genetic diseases ⚠
- p.Ser480Thr Single submitter leukocyte adhesion deficiency 3 ⚠
- p.Ser531Leu Single submitter ⚠
- p.Ser545Phe Single submitter leukocyte adhesion deficiency 3 ⚠
- p.Ser623Gly Single submitter leukocyte adhesion deficiency 3 ⚠
- p.Ser638Leu Single submitter Inborn genetic diseases ⚠
- p.Ser638Ter Single submitter leukocyte adhesion deficiency 3
- p.Ser8Phe Single submitter Inborn genetic diseases ⚠
- p.Thr348Ala Single submitter leukocyte adhesion deficiency 3 ⚠
- p.Thr37Ile Single submitter leukocyte adhesion deficiency 3 ⚠
- p.Thr380Ile Single submitter leukocyte adhesion deficiency 3 ⚠
- p.Thr478Lys Single submitter Inborn genetic diseases ⚠
- p.Thr478Met Single submitter leukocyte adhesion deficiency 3 ⚠
- p.Thr639Met Single submitter leukocyte adhesion deficiency 3 ⚠
- p.Trp16Arg Single submitter leukocyte adhesion deficiency 3 ⚠
- p.Tyr162Cys Single submitter Inborn genetic diseases ⚠
- p.Tyr383Ser Single submitter Inborn genetic diseases ⚠
- p.Tyr432Cys Single submitter Inborn genetic diseases ⚠
- p.Tyr553fs Single submitter leukocyte adhesion deficiency 3
- p.Tyr630Cys Single submitter leukocyte adhesion deficiency 3 ⚠
- p.Val124Leu Single submitter leukocyte adhesion deficiency 3 ⚠
- p.Val167Ala Single submitter leukocyte adhesion deficiency 3 ⚠
- p.Val20Ala Single submitter Inborn genetic diseases ⚠
- p.Val266Met Single submitter Inborn genetic diseases ⚠
- p.Val36Ala Single submitter leukocyte adhesion deficiency 3 ⚠
- p.Val503Ile Single submitter leukocyte adhesion deficiency 3 ⚠