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.

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

Predictors split 55

The independent predictors disagree with each other — read with care.

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

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