LIG4 — 786 ClinVar variants

All ClinVar germline LIG4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 351 flagged for review →

77 Pathogenic · 14 Pathogenic/Likely pathogenic · 17 Likely pathogenic · 38 Conflicting · 20 Benign · 10 Benign/Likely benign · 241 Likely benign · 369 Uncertain significance

Full LIG4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 351

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 23

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

LIG4 p.Ala11Gly Conflicting Single submitter
DNA ligase IV deficiency
LIG4 p.Ala797Ser Conflicting Single submitter
DNA ligase IV deficiency
LIG4 p.Ala842Asp Conflicting Single submitter
plasma cell myeloma
LIG4 p.Arg278Ser Conflicting Single submitter
DNA ligase IV deficiency
LIG4 p.Arg741His Conflicting Single submitter
Inborn genetic diseases
LIG4 p.Asn412Lys Conflicting Single submitter
DNA ligase IV deficiency
LIG4 p.Asn716Asp Conflicting Single submitter
Inborn genetic diseases
LIG4 p.Asn98Ser Conflicting Single submitter
DNA ligase IV deficiency
LIG4 p.Asp275His Conflicting Single submitter
DNA ligase IV deficiency
LIG4 p.Asp368Val Conflicting Single submitter
DNA ligase IV deficiency
LIG4 p.Gln5Lys Conflicting Single submitter
DNA ligase IV deficiency
LIG4 p.His229Arg Conflicting Single submitter
DNA ligase IV deficiency
LIG4 p.His862Tyr Conflicting Single submitter
Inborn genetic diseases
LIG4 p.Ile238Thr Conflicting Single submitter
DNA ligase IV deficiency
LIG4 p.Ile238Val Conflicting Single submitter
DNA ligase IV deficiency
LIG4 p.Ile767Thr Conflicting Single submitter
Inborn genetic diseases
LIG4 p.Leu19Trp Conflicting Single submitter
DNA ligase IV deficiency
LIG4 p.Leu23Ser Conflicting Single submitter
DNA ligase IV deficiency
LIG4 p.Lys449Gln Conflicting Single submitter
DNA ligase IV deficiency
LIG4 p.Pro231Ser Conflicting Single submitter
plasma cell myeloma
LIG4 p.Ser390Asn Conflicting Single submitter
Inborn genetic diseases
LIG4 p.Ser536Asn Conflicting Single submitter
DNA ligase IV deficiency
LIG4 p.Ser822Leu Conflicting Single submitter
DNA ligase IV deficiency

Predictors lean, ClinVar uncertain 254

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 254

LIG4 p.Ala523Gly Uncertain significance Multiple submitters
Inborn genetic diseases
LIG4 p.Ala611Thr Uncertain significance Multiple submitters
DNA ligase IV deficiency
LIG4 p.Ala702Gly Uncertain significance Multiple submitters
Inborn genetic diseases
LIG4 p.Ala797Val Uncertain significance Multiple submitters
DNA ligase IV deficiency
LIG4 p.Ala824Ser Uncertain significance Multiple submitters
Inborn genetic diseases
LIG4 p.Ala850Val Uncertain significance Multiple submitters
DNA ligase IV deficiency
LIG4 p.Arg25Gln Uncertain significance Multiple submitters
Inborn genetic diseases
LIG4 p.Arg293Gln Uncertain significance Multiple submitters
DNA ligase IV deficiency
LIG4 p.Arg32Leu Uncertain significance Multiple submitters
DNA ligase IV deficiency
LIG4 p.Arg577His Uncertain significance Multiple submitters
DNA ligase IV deficiency
LIG4 p.Arg580Gln Uncertain significance Multiple submitters
DNA ligase IV deficiency
LIG4 p.Arg585Ile Uncertain significance Multiple submitters
DNA ligase IV deficiency
LIG4 p.Arg628Gln Uncertain significance Multiple submitters
DNA ligase IV deficiency
LIG4 p.Arg756His Uncertain significance Multiple submitters
Inborn genetic diseases
LIG4 p.Arg756Ser Uncertain significance Multiple submitters
Inborn genetic diseases
LIG4 p.Arg77Lys Uncertain significance Multiple submitters
DNA ligase IV deficiency
LIG4 p.Arg815Cys Uncertain significance Multiple submitters
Inborn genetic diseases
LIG4 p.Arg846Gln Uncertain significance Multiple submitters
Inborn genetic diseases
LIG4 p.Asn412Ser Uncertain significance Multiple submitters
severe combined immunodeficiency due to DCLRE1C deficiency
LIG4 p.Asp300Asn Uncertain significance Multiple submitters
LIG4-related disorder
LIG4 p.Asp416Gly Uncertain significance Multiple submitters
Inborn genetic diseases
LIG4 p.Asp586His Uncertain significance Multiple submitters
DNA ligase IV deficiency
LIG4 p.Gln146Arg Uncertain significance Multiple submitters
DNA ligase IV deficiency
LIG4 p.Gln177Glu Uncertain significance Multiple submitters
DNA ligase IV deficiency
LIG4 p.Gln177Leu Uncertain significance Multiple submitters
DNA ligase IV deficiency
LIG4 p.Glu786Lys Uncertain significance Multiple submitters
DNA ligase IV deficiency
LIG4 p.Gly197Val Uncertain significance Multiple submitters
Inborn genetic diseases
LIG4 p.Gly330Val Uncertain significance Multiple submitters
DNA ligase IV deficiency
LIG4 p.Gly398Asp Uncertain significance Multiple submitters
DNA ligase IV deficiency
LIG4 p.Ile203Val Uncertain significance Multiple submitters
DNA ligase IV deficiency
LIG4 p.Ile323Thr Uncertain significance Multiple submitters
severe combined immunodeficiency due to DCLRE1C deficiency
LIG4 p.Ile638Thr Uncertain significance Multiple submitters
DNA ligase IV deficiency
LIG4 p.Ile682Leu Uncertain significance Multiple submitters
Inborn genetic diseases
LIG4 p.Ile888Leu Uncertain significance Multiple submitters
DNA ligase IV deficiency
LIG4 p.Ile94Val Uncertain significance Multiple submitters
DNA ligase IV deficiency
LIG4 p.Leu539Phe Uncertain significance Multiple submitters
severe combined immunodeficiency due to DCLRE1C deficiency
LIG4 p.Leu820Phe Uncertain significance Multiple submitters
DNA ligase IV deficiency
LIG4 p.Leu829Pro Uncertain significance Multiple submitters
DNA ligase IV deficiency
LIG4 p.Lys513Arg Uncertain significance Multiple submitters
DNA ligase IV deficiency
LIG4 p.Met127Ile Uncertain significance Multiple submitters
DNA ligase IV deficiency
LIG4 p.Met263Thr Uncertain significance Multiple submitters
DNA ligase IV deficiency
LIG4 p.Met479Ile Uncertain significance Multiple submitters
DNA ligase IV deficiency
LIG4 p.Met512Ile Uncertain significance Multiple submitters
DNA ligase IV deficiency
LIG4 p.Met68Ile Uncertain significance Multiple submitters
DNA ligase IV deficiency
LIG4 p.Met812Arg Uncertain significance Multiple submitters
DNA ligase IV deficiency
LIG4 p.Phe39Leu Uncertain significance Multiple submitters
DNA ligase IV deficiency
LIG4 p.Phe64Ser Uncertain significance Multiple submitters
Inborn genetic diseases
LIG4 p.Pro535Leu Uncertain significance Multiple submitters
LIG4-related disorder
LIG4 p.Pro566Ser Uncertain significance Multiple submitters
DNA ligase IV deficiency
LIG4 p.Pro809Ala Uncertain significance Multiple submitters
severe combined immunodeficiency due to DCLRE1C deficiency
LIG4 p.Pro809Leu Uncertain significance Multiple submitters
DNA ligase IV deficiency
LIG4 p.Ser391Gly Uncertain significance Multiple submitters
DNA ligase IV deficiency
LIG4 p.Ser672Arg Uncertain significance Multiple submitters
severe combined immunodeficiency due to DCLRE1C deficiency
LIG4 p.Ser715Thr Uncertain significance Multiple submitters
DNA ligase IV deficiency
LIG4 p.Ser749Pro Uncertain significance Multiple submitters
DNA ligase IV deficiency
LIG4 p.Tyr616Cys Uncertain significance Multiple submitters
Inborn genetic diseases
LIG4 p.Tyr823His Uncertain significance Multiple submitters
DNA ligase IV deficiency
LIG4 p.Val198Ile Uncertain significance Multiple submitters
DNA ligase IV deficiency
LIG4 p.Val499Ala Uncertain significance Multiple submitters
plasma cell myeloma
LIG4 p.Val499Met Uncertain significance Multiple submitters
Inborn genetic diseases
LIG4 p.Ala122Val Uncertain significance Single submitter
Inborn genetic diseases
LIG4 p.Ala161Gly Uncertain significance Single submitter
DNA ligase IV deficiency
LIG4 p.Ala211Pro Uncertain significance Single submitter
Inborn genetic diseases
LIG4 p.Ala252Gly Uncertain significance Single submitter
DNA ligase IV deficiency
LIG4 p.Ala304Val Uncertain significance Single submitter
DNA ligase IV deficiency
LIG4 p.Ala33Thr Uncertain significance Single submitter
DNA ligase IV deficiency
LIG4 p.Ala408Val Uncertain significance Single submitter
DNA ligase IV deficiency
LIG4 p.Ala417Val Uncertain significance Single submitter
DNA ligase IV deficiency
LIG4 p.Ala533Gly Uncertain significance Single submitter
DNA ligase IV deficiency
LIG4 p.Ala630Pro Uncertain significance Single submitter
DNA ligase IV deficiency
LIG4 p.Ala631Ser Uncertain significance Single submitter
DNA ligase IV deficiency
LIG4 p.Ala873Gly Uncertain significance Single submitter
DNA ligase IV deficiency
LIG4 p.Arg32His Uncertain significance Single submitter
DNA ligase IV deficiency
LIG4 p.Arg385Ser Uncertain significance Single submitter
DNA ligase IV deficiency
LIG4 p.Arg505Cys Uncertain significance Single submitter
DNA ligase IV deficiency
LIG4 p.Arg577Cys Uncertain significance Single submitter
Inborn genetic diseases
LIG4 p.Arg681Lys Uncertain significance Single submitter
DNA ligase IV deficiency
LIG4 p.Arg802Gln Uncertain significance Single submitter
DNA ligase IV deficiency
LIG4 p.Arg815His Uncertain significance Single submitter
DNA ligase IV deficiency
LIG4 p.Arg815Leu Uncertain significance Single submitter
DNA ligase IV deficiency
LIG4 p.Asn297Asp Uncertain significance Single submitter
DNA ligase IV deficiency
LIG4 p.Asn317Asp Uncertain significance Single submitter
DNA ligase IV deficiency
LIG4 p.Asn412Thr Uncertain significance Single submitter
DNA ligase IV deficiency
LIG4 p.Asn56Asp Uncertain significance Single submitter
Inborn genetic diseases
LIG4 p.Asn648His Uncertain significance Single submitter
DNA ligase IV deficiency
LIG4 p.Asn680Asp Uncertain significance Single submitter
DNA ligase IV deficiency
LIG4 p.Asn827Ser Uncertain significance Single submitter
DNA ligase IV deficiency
LIG4 p.Asp121Gly Uncertain significance Single submitter
Inborn genetic diseases
LIG4 p.Asp18Val Uncertain significance Single submitter
DNA ligase IV deficiency
LIG4 p.Asp230Val Uncertain significance Single submitter
DNA ligase IV deficiency
LIG4 p.Asp255Gly Uncertain significance Single submitter
DNA ligase IV deficiency
LIG4 p.Asp275Tyr Uncertain significance Single submitter
LIG4 p.Asp286Asn Uncertain significance Single submitter
DNA ligase IV deficiency
LIG4 p.Asp322Asn Uncertain significance Single submitter
DNA ligase IV deficiency
LIG4 p.Asp368Asn Uncertain significance Single submitter
LIG4 p.Asp368Tyr Uncertain significance Single submitter
LIG4 p.Asp416His Uncertain significance Single submitter
DNA ligase IV deficiency
LIG4 p.Asp416Val Uncertain significance Single submitter
Inborn genetic diseases
LIG4 p.Asp441Asn Uncertain significance Single submitter
DNA ligase IV deficiency
LIG4 p.Asp460Glu Uncertain significance Single submitter
DNA ligase IV deficiency
LIG4 p.Asp568Ala Uncertain significance Single submitter
Inborn genetic diseases
LIG4 p.Asp568Gly Uncertain significance Single submitter
DNA ligase IV deficiency
LIG4 p.Asp586Glu Uncertain significance Single submitter
DNA ligase IV deficiency
LIG4 p.Asp586Tyr Uncertain significance Single submitter
DNA ligase IV deficiency
LIG4 p.Asp597Glu Uncertain significance Single submitter
Inborn genetic diseases
LIG4 p.Asp598Asn Uncertain significance Single submitter
DNA ligase IV deficiency
LIG4 p.Asp620Gly Uncertain significance Single submitter
DNA ligase IV deficiency
LIG4 p.Asp661Ala Uncertain significance Single submitter
DNA ligase IV deficiency
LIG4 p.Asp759Gly Uncertain significance Single submitter
DNA ligase IV deficiency
LIG4 p.Asp763Ala Uncertain significance Single submitter
Inborn genetic diseases
LIG4 p.Asp828Asn Uncertain significance Single submitter
DNA ligase IV deficiency
LIG4 p.Cys20Phe Uncertain significance Single submitter
Inborn genetic diseases
LIG4 p.Cys747Arg Uncertain significance Single submitter
DNA ligase IV deficiency
LIG4 p.Gln301Glu Uncertain significance Single submitter
LIG4 p.Gln324Arg Uncertain significance Single submitter
Inborn genetic diseases
LIG4 p.Gln5His Uncertain significance Single submitter
DNA ligase IV deficiency
LIG4 p.Gln773Lys Uncertain significance Single submitter
DNA ligase IV deficiency
LIG4 p.Glu222Asp Uncertain significance Single submitter
DNA ligase IV deficiency
LIG4 p.Glu427Ala Uncertain significance Single submitter
LIG4 p.Glu546Lys Uncertain significance Single submitter
DNA ligase IV deficiency
LIG4 p.Glu679Lys Uncertain significance Single submitter
DNA ligase IV deficiency
LIG4 p.Glu776Asp Uncertain significance Single submitter
DNA ligase IV deficiency
LIG4 p.Glu867Lys Uncertain significance Single submitter
Inborn genetic diseases
LIG4 p.Glu891Gly Uncertain significance Single submitter
LIG4 p.Glu902Lys Uncertain significance Single submitter
Inborn genetic diseases
LIG4 p.Gly276Asp Uncertain significance Single submitter
LIG4 p.Gly398Arg Uncertain significance Single submitter
DNA ligase IV deficiency
LIG4 p.Gly398Val Uncertain significance Single submitter
DNA ligase IV deficiency
LIG4 p.Gly428Val Uncertain significance Single submitter
Inborn genetic diseases
LIG4 p.Gly472Asp Uncertain significance Single submitter
DNA ligase IV deficiency
LIG4 p.Gly507Arg Uncertain significance Single submitter
DNA ligase IV deficiency
LIG4 p.Gly619Ser Uncertain significance Single submitter
DNA ligase IV deficiency
LIG4 p.Gly639Ala Uncertain significance Single submitter
DNA ligase IV deficiency
LIG4 p.Gly687Ser Uncertain significance Single submitter
DNA ligase IV deficiency
LIG4 p.Gly780Glu Uncertain significance Single submitter
DNA ligase IV deficiency
LIG4 p.Gly849Arg Uncertain significance Single submitter
DNA ligase IV deficiency
LIG4 p.His215Tyr Uncertain significance Single submitter
DNA ligase IV deficiency
LIG4 p.His258Arg Uncertain significance Single submitter
DNA ligase IV deficiency
LIG4 p.His265Arg Uncertain significance Single submitter
DNA ligase IV deficiency
LIG4 p.His379Pro Uncertain significance Single submitter
Inborn genetic diseases
LIG4 p.His501Arg Uncertain significance Single submitter
DNA ligase IV deficiency
LIG4 p.His50Arg Uncertain significance Single submitter
DNA ligase IV deficiency
LIG4 p.His54Arg Uncertain significance Single submitter
Inborn genetic diseases
LIG4 p.His848Arg Uncertain significance Single submitter
LIG4 p.His848Asp Uncertain significance Single submitter
Inborn genetic diseases
LIG4 p.His862Gln Uncertain significance Single submitter
DNA ligase IV deficiency
LIG4 p.Ile191Leu Uncertain significance Single submitter
Inborn genetic diseases
LIG4 p.Ile238Leu Uncertain significance Single submitter
DNA ligase IV deficiency
LIG4 p.Ile240Val Uncertain significance Single submitter
DNA ligase IV deficiency
LIG4 p.Ile253Val Uncertain significance Single submitter
DNA ligase IV deficiency

Predictors split 74

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

LIG4 p.Arg32Cys Uncertain significance Multiple submitters
DNA ligase IV deficiency
LIG4 p.Arg603Trp Uncertain significance Multiple submitters
DNA ligase IV deficiency
LIG4 p.Arg628Trp Uncertain significance Multiple submitters
plasma cell myeloma
LIG4 p.Arg802Trp Uncertain significance Multiple submitters
DNA ligase IV deficiency
LIG4 p.Arg871His Uncertain significance Multiple submitters
DNA ligase IV deficiency
LIG4 p.Asp416Tyr Uncertain significance Multiple submitters
DNA ligase IV deficiency
LIG4 p.Asp587Asn Uncertain significance Multiple submitters
Inborn genetic diseases
LIG4 p.Cys574Arg Uncertain significance Multiple submitters
DNA ligase IV deficiency
LIG4 p.Glu95Lys Uncertain significance Multiple submitters
DNA ligase IV deficiency
LIG4 p.Gly197Ala Uncertain significance Multiple submitters
Inborn genetic diseases
LIG4 p.Gly295Arg Uncertain significance Multiple submitters
Inborn genetic diseases
LIG4 p.Gly446Ala Uncertain significance Multiple submitters
DNA ligase IV deficiency
LIG4 p.Gly866Arg Uncertain significance Multiple submitters
Inborn genetic diseases
LIG4 p.His745Arg Uncertain significance Multiple submitters
Inborn genetic diseases
LIG4 p.Ile415Thr Uncertain significance Multiple submitters
DNA ligase IV deficiency
LIG4 p.Lys626Glu Uncertain significance Multiple submitters
DNA ligase IV deficiency
LIG4 p.Met263Ile Uncertain significance Multiple submitters
DNA ligase IV deficiency
LIG4 p.Thr176Pro Uncertain significance Multiple submitters
DNA ligase IV deficiency
LIG4 p.Tyr298His Uncertain significance Multiple submitters
DNA ligase IV deficiency
LIG4 p.Val547Ile Uncertain significance Multiple submitters
DNA ligase IV deficiency
LIG4 p.Ala180Thr Uncertain significance Single submitter
DNA ligase IV deficiency
LIG4 p.Ala417Gly Uncertain significance Single submitter
DNA ligase IV deficiency
LIG4 p.Arg188Gln Conflicting Single submitter
Inborn genetic diseases
LIG4 p.Arg476Gln Uncertain significance Single submitter
Inborn genetic diseases
LIG4 p.Arg476Trp Uncertain significance Single submitter
DNA ligase IV deficiency
LIG4 p.Arg814Leu Uncertain significance Single submitter
DNA ligase IV deficiency
LIG4 p.Arg846Trp Uncertain significance Single submitter
DNA ligase IV deficiency
LIG4 p.Arg871Cys Uncertain significance Single submitter
DNA ligase IV deficiency
LIG4 p.Asp165Asn Uncertain significance Single submitter
DNA ligase IV deficiency
LIG4 p.Asp350Asn Uncertain significance Single submitter
DNA ligase IV deficiency
LIG4 p.Asp441Val Uncertain significance Single submitter
Inborn genetic diseases
LIG4 p.Asp62Asn Uncertain significance Single submitter
DNA ligase IV deficiency
LIG4 p.Cys699Phe Uncertain significance Single submitter
Inborn genetic diseases
LIG4 p.Gln266Pro Uncertain significance Single submitter
Inborn genetic diseases
LIG4 p.Gln739Pro Uncertain significance Single submitter
DNA ligase IV deficiency
LIG4 p.Glu461Gly Uncertain significance Single submitter
DNA ligase IV deficiency
LIG4 p.Glu663Asp Uncertain significance Single submitter
LIG4 p.Glu684Lys Uncertain significance Single submitter
DNA ligase IV deficiency
LIG4 p.Gly285Val Uncertain significance Single submitter
DNA ligase IV deficiency
LIG4 p.Gly295Glu Uncertain significance Single submitter
DNA ligase IV deficiency
LIG4 p.Gly494Val Uncertain significance Single submitter
DNA ligase IV deficiency
LIG4 p.Gly762Ser Uncertain significance Single submitter
DNA ligase IV deficiency
LIG4 p.Ile167Arg Conflicting Single submitter
severe combined immunodeficiency due to DCLRE1C deficiency
LIG4 p.Ile323Lys Uncertain significance Single submitter
Inborn genetic diseases
LIG4 p.Ile400Thr Uncertain significance Single submitter
DNA ligase IV deficiency
LIG4 p.Ile658Thr Uncertain significance Single submitter
DNA ligase IV deficiency
LIG4 p.Ile682Met Uncertain significance Single submitter
DNA ligase IV deficiency
LIG4 p.Ile707Phe Uncertain significance Single submitter
DNA ligase IV deficiency
LIG4 p.Ile864Met Uncertain significance Single submitter
DNA ligase IV deficiency
LIG4 p.Ile888Phe Uncertain significance Single submitter
DNA ligase IV deficiency
LIG4 p.Leu678Met Uncertain significance Single submitter
Inborn genetic diseases
LIG4 p.Leu678Val Uncertain significance Single submitter
DNA ligase IV deficiency
LIG4 p.Leu70Val Uncertain significance Single submitter
DNA ligase IV deficiency
LIG4 p.Leu774Val Uncertain significance Single submitter
DNA ligase IV deficiency
LIG4 p.Leu903Ser Uncertain significance Single submitter
DNA ligase IV deficiency
LIG4 p.Lys411Glu Uncertain significance Single submitter
DNA ligase IV deficiency
LIG4 p.Met430Leu Conflicting Single submitter
DNA ligase IV deficiency
LIG4 p.Phe730Cys Uncertain significance Single submitter
DNA ligase IV deficiency
LIG4 p.Phe742Leu Uncertain significance Single submitter
DNA ligase IV deficiency
LIG4 p.Pro313Leu Uncertain significance Single submitter
DNA ligase IV deficiency
LIG4 p.Pro647Leu Uncertain significance Single submitter
DNA ligase IV deficiency
LIG4 p.Ser178Asn Uncertain significance Single submitter
DNA ligase IV deficiency
LIG4 p.Ser704Pro Uncertain significance Single submitter
DNA ligase IV deficiency
LIG4 p.Ser897Ala Uncertain significance Single submitter
DNA ligase IV deficiency
LIG4 p.Thr272Ser Uncertain significance Single submitter
DNA ligase IV deficiency
LIG4 p.Thr299Ala Uncertain significance Single submitter
DNA ligase IV deficiency
LIG4 p.Thr831Asn Uncertain significance Single submitter
DNA ligase IV deficiency
LIG4 p.Tyr335Cys Uncertain significance Single submitter
DNA ligase IV deficiency
LIG4 p.Tyr364Cys Uncertain significance Single submitter
Inborn genetic diseases
LIG4 p.Tyr438His Likely pathogenic Single submitter
DNA ligase IV deficiency
LIG4 p.Tyr548Cys Uncertain significance Single submitter
DNA ligase IV deficiency
LIG4 p.Tyr570His Uncertain significance Single submitter
DNA ligase IV deficiency
LIG4 p.Val132Leu Uncertain significance Single submitter
DNA ligase IV deficiency
LIG4 p.Val825Phe Uncertain significance Single submitter
Inborn genetic diseases

All LIG4 variants

Pathogenic 77

p.Arg278His Multiple submitters severe combined immunodeficiency
p.Arg278Leu Multiple submitters DNA ligase IV deficiency
p.Arg505fs Multiple submitters DNA ligase IV deficiency
p.His282Leu Multiple submitters DNA ligase IV deficiency
p.Ile584fs Multiple submitters DNA ligase IV deficiency
p.Lys424fs Multiple submitters LIG4-related disorder
p.Lys635fs Multiple submitters DNA ligase IV deficiency
p.Ser205fs Multiple submitters DNA ligase IV deficiency
p.Trp526Ter Multiple submitters DNA ligase IV deficiency
p.Ala161fs Single submitter DNA ligase IV deficiency
p.Arg226fs Single submitter DNA ligase IV deficiency
p.Arg25Ter Single submitter DNA ligase IV deficiency
p.Arg628fs Single submitter DNA ligase IV deficiency
p.Arg79fs Single submitter DNA ligase IV deficiency
p.Gln147fs Single submitter DNA ligase IV deficiency
p.Gln280Arg Single submitter DNA ligase IV deficiency
p.Gln404fs Single submitter DNA ligase IV deficiency
p.Gln624Ter Single submitter DNA ligase IV deficiency
p.Gln773fs Single submitter DNA ligase IV deficiency
p.Gln787Ter Single submitter DNA ligase IV deficiency
p.Gln8Ter Single submitter DNA ligase IV deficiency
p.Glu461fs Single submitter DNA ligase IV deficiency
p.Glu546Ter Single submitter DNA ligase IV deficiency
p.Glu600Ter Single submitter DNA ligase IV deficiency
p.Glu757Ter Single submitter DNA ligase IV deficiency
p.Glu76Ter Single submitter DNA ligase IV deficiency
p.Glu776fs Single submitter DNA ligase IV deficiency
p.Gly346fs Single submitter DNA ligase IV deficiency
p.Gly477fs Single submitter DNA ligase IV deficiency
p.Gly541Ter Single submitter DNA ligase IV deficiency
p.His208fs Single submitter DNA ligase IV deficiency
p.His501fs Single submitter DNA ligase IV deficiency
p.His643fs Single submitter DNA ligase IV deficiency
p.Ile175fs Single submitter DNA ligase IV deficiency
p.Ile253fs Single submitter DNA ligase IV deficiency
p.Ile351fs Single submitter DNA ligase IV deficiency
p.Ile36fs Single submitter DNA ligase IV deficiency
p.Ile658fs Single submitter DNA ligase IV deficiency
p.Ile712fs Single submitter DNA ligase IV deficiency
p.Ile84fs Single submitter DNA ligase IV deficiency
p.Ile865fs Single submitter DNA ligase IV deficiency
p.Leu418fs Single submitter DNA ligase IV deficiency
p.Leu810fs Single submitter DNA ligase IV deficiency
p.Lys192fs Single submitter DNA ligase IV deficiency
p.Lys384fs Single submitter DNA ligase IV deficiency
p.Lys521Ter Single submitter DNA ligase IV deficiency
p.Lys583fs Single submitter DNA ligase IV deficiency
p.Lys588del Single submitter DNA ligase IV deficiency
p.Lys717fs Single submitter DNA ligase IV deficiency
p.Met430fs Single submitter DNA ligase IV deficiency
p.Met512_Lys513delinsIleTer Single submitter DNA ligase IV deficiency
p.Phe125fs Single submitter DNA ligase IV deficiency
p.Phe268_Tyr269insTer Single submitter DNA ligase IV deficiency
p.Phe302fs Single submitter DNA ligase IV deficiency
p.Phe342fs Single submitter DNA ligase IV deficiency
p.Phe730fs Single submitter DNA ligase IV deficiency
p.Phe754fs Single submitter DNA ligase IV deficiency
p.Phe886fs Single submitter DNA ligase IV deficiency
p.Pro492fs Single submitter DNA ligase IV deficiency
p.Pro528fs Single submitter DNA ligase IV deficiency
p.Pro674fs Single submitter DNA ligase IV deficiency
p.Pro809fs Single submitter DNA ligase IV deficiency
p.Ser170fs Single submitter DNA ligase IV deficiency
p.Ser179Ter Single submitter DNA ligase IV deficiency
p.Ser475Ter Single submitter
p.Ser63fs Single submitter DNA ligase IV deficiency
p.Ser734fs Single submitter DNA ligase IV deficiency
p.Ser897Ter Single submitter DNA ligase IV deficiency
p.Thr769fs Single submitter DNA ligase IV deficiency
p.Thr881_Phe882insTer Single submitter DNA ligase IV deficiency
p.Trp725fs Single submitter DNA ligase IV deficiency
p.Tyr269fs Single submitter DNA ligase IV deficiency
p.Tyr548fs Single submitter DNA ligase IV deficiency
p.Val414_Ile415insTer Single submitter DNA ligase IV deficiency
p.Arg278Gly No assertion criteria DNA ligase IV deficiency
p.Gln433del No assertion criteria DNA ligase IV deficiency
p.Gly469Glu No assertion criteria DNA ligase IV deficiency

Pathogenic/Likely pathogenic 14

p.Arg293Ter Multiple submitters DNA ligase IV deficiency
p.Arg580Ter Multiple submitters DNA ligase IV deficiency
p.Arg814Ter Multiple submitters prenatal LIG4 syndrome with aqueductal stenosis
p.Asn294fs Multiple submitters plasma cell myeloma
p.Gln200fs Multiple submitters DNA ligase IV deficiency
p.Gln74Ter Multiple submitters DNA ligase IV deficiency
p.Gln773Ter Multiple submitters DNA ligase IV deficiency
p.Glu582fs Multiple submitters DNA ligase IV deficiency
p.His862fs Multiple submitters DNA ligase IV deficiency
p.Leu242fs Multiple submitters plasma cell myeloma
p.Leu382fs Multiple submitters DNA ligase IV deficiency
p.Ser267fs Multiple submitters DNA ligase IV deficiency
p.Trp46Ter Multiple submitters DNA ligase IV deficiency
p.Tyr698Ter Multiple submitters LIG4-related disorder

Likely pathogenic 17

p.Gly303Arg Multiple submitters Inborn genetic diseases
p.His282Arg Multiple submitters DNA ligase IV deficiency
p.Lys283Glu Multiple submitters DNA ligase IV deficiency
p.Pro248Leu Multiple submitters Inborn genetic diseases
p.Arg278Cys Single submitter DNA ligase IV deficiency
p.Arg278Pro Single submitter DNA ligase IV deficiency
p.Gln266Ter Single submitter
p.Gln280Pro Single submitter DNA ligase IV deficiency
p.Gln558Pro Single submitter thyroid gland papillary carcinoma
p.Glu426fs Single submitter
p.Gly123Ter Single submitter DNA ligase IV deficiency
p.Gly428Arg Single submitter DNA ligase IV deficiency
p.Leu774Pro Single submitter DNA ligase IV deficiency
p.Phe778_Ser779insTer Single submitter Inborn genetic diseases
p.Tyr438His Single submitter DNA ligase IV deficiency ⚠
p.Tyr801fs Single submitter DNA ligase IV deficiency
p.Met480fs No assertion criteria LIG4-related disorder

Conflicting classifications of pathogenicity 38

p.Ala11Gly Single submitter DNA ligase IV deficiency ⚠
p.Ala797Ser Single submitter DNA ligase IV deficiency ⚠
p.Ala842Asp Single submitter plasma cell myeloma ⚠
p.Arg188Gln Single submitter Inborn genetic diseases ⚠
p.Arg278Ser Single submitter DNA ligase IV deficiency ⚠
p.Arg741His Single submitter Inborn genetic diseases ⚠
p.Asn412Lys Single submitter DNA ligase IV deficiency ⚠
p.Asn657= Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
p.Asn716Asp Single submitter Inborn genetic diseases ⚠
p.Asn833= Single submitter DNA ligase IV deficiency
p.Asn98Ser Single submitter DNA ligase IV deficiency ⚠
p.Asp275His Single submitter DNA ligase IV deficiency ⚠
p.Asp368Val Single submitter DNA ligase IV deficiency ⚠
p.Asp661= Single submitter DNA ligase IV deficiency
p.Gln340= Single submitter DNA ligase IV deficiency
p.Gln5Lys Single submitter DNA ligase IV deficiency ⚠
p.Glu413= Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
p.Glu95= Single submitter DNA ligase IV deficiency
p.His229Arg Single submitter DNA ligase IV deficiency ⚠
p.His862Tyr Single submitter Inborn genetic diseases ⚠
p.Ile167Arg Single submitter severe combined immunodeficiency due to DCLRE1C deficiency ⚠
p.Ile238Thr Single submitter DNA ligase IV deficiency ⚠
p.Ile238Val Single submitter DNA ligase IV deficiency ⚠
p.Ile767Thr Single submitter Inborn genetic diseases ⚠
p.Ile864fs Single submitter severe combined immunodeficiency
p.Leu19Trp Single submitter DNA ligase IV deficiency ⚠
p.Leu23Ser Single submitter DNA ligase IV deficiency ⚠
p.Leu418= Single submitter DNA ligase IV deficiency
p.Leu610= Single submitter DNA ligase IV deficiency
p.Lys449Gln Single submitter DNA ligase IV deficiency ⚠
p.Met430Leu Single submitter DNA ligase IV deficiency ⚠
p.Pro231Ser Single submitter plasma cell myeloma ⚠
p.Ser390Asn Single submitter Inborn genetic diseases ⚠
p.Ser536Asn Single submitter DNA ligase IV deficiency ⚠
p.Ser822Leu Single submitter DNA ligase IV deficiency ⚠
p.Tyr570= Single submitter DNA ligase IV deficiency
p.Tyr758= Single submitter DNA ligase IV deficiency
p.Val414= Single submitter DNA ligase IV deficiency

Benign 20

c.-101-172C>T Multiple submitters severe combined immunodeficiency due to DCLRE1C deficiency
c.-28-37T>C Multiple submitters
c.*1035G>A Multiple submitters DNA ligase IV deficiency
c.*129A>G Multiple submitters DNA ligase IV deficiency
c.*131A>T Multiple submitters DNA ligase IV deficiency
c.*204A>G Multiple submitters DNA ligase IV deficiency
c.*677A>G Multiple submitters DNA ligase IV deficiency
p.Asp568= Multiple submitters DNA ligase IV deficiency
p.Ile658Val Multiple submitters DNA ligase IV deficiency
p.Leu171= Multiple submitters DNA ligase IV deficiency
p.Ser305= Multiple submitters DNA ligase IV deficiency
p.Tyr269= Multiple submitters DNA ligase IV deficiency
c.-101-95G>A Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
c.-28-123dup Single submitter
c.-28-294C>T Single submitter
c.*1081C>T Single submitter DNA ligase IV deficiency
c.*685T>C Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
c.*826A>T Single submitter DNA ligase IV deficiency
c.*983G>A Single submitter DNA ligase IV deficiency
p.Ser12Thr Single submitter DNA ligase IV deficiency

Benign/Likely benign 10

c.-7C>T Multiple submitters DNA ligase IV deficiency
c.*104C>G Multiple submitters DNA ligase IV deficiency
c.*3del Multiple submitters DNA ligase IV deficiency
c.*54G>A Multiple submitters DNA ligase IV deficiency
p.Ala3Val Multiple submitters DNA ligase IV deficiency
p.Ala857Thr Multiple submitters DNA ligase IV deficiency
p.Glu600Lys Multiple submitters DNA ligase IV deficiency
p.Pro491= Multiple submitters DNA ligase IV deficiency
p.Thr9Ile Multiple submitters DNA ligase IV deficiency
p.Val60= Multiple submitters severe combined immunodeficiency due to DCLRE1C deficiency

Likely benign 241

p.Ala562= Multiple submitters DNA ligase IV deficiency
p.Ala631Thr Multiple submitters DNA ligase IV deficiency
p.Arg505= Multiple submitters DNA ligase IV deficiency
p.Asn149= Multiple submitters DNA ligase IV deficiency
p.Asn651= Multiple submitters DNA ligase IV deficiency
p.Asn785= Multiple submitters DNA ligase IV deficiency
p.Ile840Val Multiple submitters DNA ligase IV deficiency
p.Leu503= Multiple submitters DNA ligase IV deficiency
p.Leu520= Multiple submitters DNA ligase IV deficiency
p.Leu70= Multiple submitters DNA ligase IV deficiency
p.Lys885= Multiple submitters DNA ligase IV deficiency
p.Pro313= Multiple submitters DNA ligase IV deficiency
p.Ser567= Multiple submitters DNA ligase IV deficiency
p.Ser734= Multiple submitters DNA ligase IV deficiency
p.Thr697= Multiple submitters DNA ligase IV deficiency
p.Tyr288= Multiple submitters DNA ligase IV deficiency
p.Val547= Multiple submitters DNA ligase IV deficiency
c.-101-31A>G Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
c.-29+15T>G Single submitter DNA ligase IV deficiency
c.*34T>G Single submitter DNA ligase IV deficiency
c.*614A>C Single submitter DNA ligase IV deficiency
p.Ala11= Single submitter DNA ligase IV deficiency
p.Ala129= Single submitter DNA ligase IV deficiency
p.Ala161= Single submitter DNA ligase IV deficiency
p.Ala245= Single submitter DNA ligase IV deficiency
p.Ala251= Single submitter DNA ligase IV deficiency
p.Ala408= Single submitter DNA ligase IV deficiency
p.Ala417= Single submitter DNA ligase IV deficiency
p.Ala421= Single submitter DNA ligase IV deficiency
p.Ala486= Single submitter DNA ligase IV deficiency
p.Ala523= Single submitter DNA ligase IV deficiency
p.Ala631= Single submitter DNA ligase IV deficiency
p.Ala683= Single submitter DNA ligase IV deficiency
p.Ala724= Single submitter DNA ligase IV deficiency
p.Ala81= Single submitter DNA ligase IV deficiency
p.Ala839= Single submitter DNA ligase IV deficiency
p.Arg136= Single submitter DNA ligase IV deficiency
p.Arg163Ser Single submitter DNA ligase IV deficiency
p.Arg226= Single submitter DNA ligase IV deficiency
p.Arg25= Single submitter DNA ligase IV deficiency
p.Arg278= Single submitter DNA ligase IV deficiency
p.Arg293= Single submitter DNA ligase IV deficiency
p.Arg353= Single submitter DNA ligase IV deficiency
p.Arg385= Single submitter DNA ligase IV deficiency
p.Arg443= Single submitter DNA ligase IV deficiency
p.Arg476= Single submitter DNA ligase IV deficiency
p.Arg580= Single submitter DNA ligase IV deficiency
p.Arg585= Single submitter DNA ligase IV deficiency
p.Arg603= Single submitter DNA ligase IV deficiency
p.Arg628= Single submitter DNA ligase IV deficiency
p.Arg79= Single submitter DNA ligase IV deficiency
p.Arg802= Single submitter DNA ligase IV deficiency
p.Arg814= Single submitter DNA ligase IV deficiency
p.Arg815= Single submitter DNA ligase IV deficiency
p.Arg837= Single submitter
p.Arg884= Single submitter DNA ligase IV deficiency
p.Asn158= Single submitter DNA ligase IV deficiency
p.Asn297= Single submitter DNA ligase IV deficiency
p.Asn374= Single submitter DNA ligase IV deficiency
p.Asn680= Single submitter DNA ligase IV deficiency
p.Asn706= Single submitter DNA ligase IV deficiency
p.Asn772= Single submitter DNA ligase IV deficiency
p.Asp102= Single submitter
p.Asp150= Single submitter DNA ligase IV deficiency
p.Asp153= Single submitter DNA ligase IV deficiency
p.Asp237= Single submitter DNA ligase IV deficiency
p.Asp423= Single submitter DNA ligase IV deficiency
p.Asp597= Single submitter DNA ligase IV deficiency
p.Asp671= Single submitter DNA ligase IV deficiency
p.Asp677= Single submitter DNA ligase IV deficiency
p.Asp719= Single submitter DNA ligase IV deficiency
p.Asp763= Single submitter DNA ligase IV deficiency
p.Asp770= Single submitter DNA ligase IV deficiency
p.Cys137= Single submitter DNA ligase IV deficiency
p.Cys225= Single submitter DNA ligase IV deficiency
p.Cys363= Single submitter DNA ligase IV deficiency
p.Cys365= Single submitter DNA ligase IV deficiency
p.Cys552= Single submitter DNA ligase IV deficiency
p.Cys574= Single submitter DNA ligase IV deficiency
p.Cys901= Single submitter DNA ligase IV deficiency
p.Gln146= Single submitter DNA ligase IV deficiency
p.Gln173= Single submitter DNA ligase IV deficiency
p.Gln201= Single submitter DNA ligase IV deficiency
p.Gln280= Single submitter DNA ligase IV deficiency
p.Gln344= Single submitter DNA ligase IV deficiency
p.Gln773= Single submitter DNA ligase IV deficiency
p.Gln8= Single submitter DNA ligase IV deficiency
p.Gln904= Single submitter DNA ligase IV deficiency
p.Glu222= Single submitter DNA ligase IV deficiency
p.Glu257= Single submitter DNA ligase IV deficiency
p.Glu420= Single submitter DNA ligase IV deficiency
p.Glu453= Single submitter DNA ligase IV deficiency
p.Glu563= Single submitter DNA ligase IV deficiency
p.Glu589= Single submitter DNA ligase IV deficiency
p.Glu600= Single submitter DNA ligase IV deficiency
p.Glu705Lys Single submitter Inborn genetic diseases
p.Glu905= Single submitter DNA ligase IV deficiency
p.Gly120= Single submitter DNA ligase IV deficiency
p.Gly295= Single submitter DNA ligase IV deficiency
p.Gly31= Single submitter DNA ligase IV deficiency
p.Gly378= Single submitter DNA ligase IV deficiency
p.Gly469= Single submitter DNA ligase IV deficiency
p.Gly474= Single submitter DNA ligase IV deficiency
p.Gly494= Single submitter DNA ligase IV deficiency
p.Gly541= Single submitter DNA ligase IV deficiency
p.Gly619= Single submitter DNA ligase IV deficiency
p.Gly780= Single submitter DNA ligase IV deficiency
p.Gly835= Single submitter DNA ligase IV deficiency
p.His13= Single submitter DNA ligase IV deficiency
p.His316= Single submitter DNA ligase IV deficiency
p.His50= Single submitter DNA ligase IV deficiency
p.His501= Single submitter DNA ligase IV deficiency
p.His530Arg Single submitter DNA ligase IV deficiency
p.His614= Single submitter DNA ligase IV deficiency
p.His816= Single submitter DNA ligase IV deficiency
p.Ile190= Single submitter DNA ligase IV deficiency
p.Ile238= Single submitter DNA ligase IV deficiency
p.Ile240= Single submitter DNA ligase IV deficiency
p.Ile415= Single submitter DNA ligase IV deficiency
p.Ile437= Single submitter DNA ligase IV deficiency
p.Ile464= Single submitter DNA ligase IV deficiency
p.Ile564= Single submitter DNA ligase IV deficiency
p.Ile640= Single submitter DNA ligase IV deficiency
p.Ile689= Single submitter DNA ligase IV deficiency
p.Ile796= Single submitter DNA ligase IV deficiency
p.Ile840= Single submitter DNA ligase IV deficiency
p.Ile865= Single submitter DNA ligase IV deficiency
p.Leu107= Single submitter DNA ligase IV deficiency
p.Leu133= Single submitter DNA ligase IV deficiency
p.Leu166= Single submitter DNA ligase IV deficiency
p.Leu194= Single submitter DNA ligase IV deficiency
p.Leu221= Single submitter DNA ligase IV deficiency
p.Leu228= Single submitter DNA ligase IV deficiency
p.Leu242= Single submitter DNA ligase IV deficiency
p.Leu250= Single submitter DNA ligase IV deficiency
p.Leu370= Single submitter DNA ligase IV deficiency
p.Leu382= Single submitter DNA ligase IV deficiency
p.Leu435= Single submitter DNA ligase IV deficiency
p.Leu462= Single submitter DNA ligase IV deficiency
p.Leu515= Single submitter DNA ligase IV deficiency
p.Leu522= Single submitter DNA ligase IV deficiency
p.Leu599= Single submitter DNA ligase IV deficiency
p.Leu774= Single submitter DNA ligase IV deficiency
p.Leu810= Single submitter DNA ligase IV deficiency
p.Leu829= Single submitter DNA ligase IV deficiency
p.Leu843= Single submitter DNA ligase IV deficiency
p.Leu889= Single submitter DNA ligase IV deficiency
p.Leu96= Single submitter DNA ligase IV deficiency
p.Lys169= Single submitter DNA ligase IV deficiency
p.Lys195= Single submitter DNA ligase IV deficiency
p.Lys247= Single submitter DNA ligase IV deficiency
p.Lys273= Single submitter DNA ligase IV deficiency
p.Lys345= Single submitter DNA ligase IV deficiency
p.Lys376= Single submitter DNA ligase IV deficiency
p.Lys405= Single submitter DNA ligase IV deficiency
p.Lys439= Single submitter DNA ligase IV deficiency
p.Lys442= Single submitter DNA ligase IV deficiency
p.Lys449= Single submitter DNA ligase IV deficiency
p.Lys451= Single submitter DNA ligase IV deficiency
p.Lys521= Single submitter DNA ligase IV deficiency
p.Lys58= Single submitter DNA ligase IV deficiency
p.Lys722= Single submitter DNA ligase IV deficiency
p.Lys900= Single submitter DNA ligase IV deficiency
p.Phe204= Single submitter DNA ligase IV deficiency
p.Phe268= Single submitter DNA ligase IV deficiency
p.Phe302= Single submitter DNA ligase IV deficiency
p.Phe342= Single submitter DNA ligase IV deficiency
p.Phe664= Single submitter DNA ligase IV deficiency
p.Phe778= Single submitter DNA ligase IV deficiency
p.Phe847= Single submitter DNA ligase IV deficiency
p.Pro397= Single submitter DNA ligase IV deficiency
p.Pro440= Single submitter DNA ligase IV deficiency
p.Pro493= Single submitter DNA ligase IV deficiency
p.Pro497= Single submitter DNA ligase IV deficiency
p.Pro535= Single submitter DNA ligase IV deficiency
p.Pro551= Single submitter DNA ligase IV deficiency
p.Pro623= Single submitter DNA ligase IV deficiency
p.Pro676= Single submitter DNA ligase IV deficiency
p.Pro723= Single submitter DNA ligase IV deficiency
p.Pro73= Single submitter DNA ligase IV deficiency
p.Pro748= Single submitter DNA ligase IV deficiency
p.Pro809= Single submitter DNA ligase IV deficiency
p.Ser160= Single submitter DNA ligase IV deficiency
p.Ser170= Single submitter DNA ligase IV deficiency
p.Ser205= Single submitter DNA ligase IV deficiency
p.Ser236= Single submitter DNA ligase IV deficiency
p.Ser239= Single submitter DNA ligase IV deficiency
p.Ser456= Single submitter DNA ligase IV deficiency
p.Ser537= Single submitter DNA ligase IV deficiency
p.Ser612= Single submitter DNA ligase IV deficiency
p.Ser63= Single submitter DNA ligase IV deficiency
p.Ser715= Single submitter
p.Ser764= Single submitter DNA ligase IV deficiency
p.Ser804= Single submitter DNA ligase IV deficiency
p.Ser808= Single submitter DNA ligase IV deficiency
p.Ser822= Single submitter DNA ligase IV deficiency
p.Ser870= Single submitter DNA ligase IV deficiency
p.Ser892= Single submitter DNA ligase IV deficiency
p.Ter912= Single submitter DNA ligase IV deficiency
p.Thr218= Single submitter DNA ligase IV deficiency
p.Thr299= Single submitter DNA ligase IV deficiency
p.Thr312= Single submitter DNA ligase IV deficiency
p.Thr339= Single submitter DNA ligase IV deficiency
p.Thr341= Single submitter DNA ligase IV deficiency
p.Thr406= Single submitter DNA ligase IV deficiency
p.Thr750= Single submitter DNA ligase IV deficiency
p.Thr817= Single submitter DNA ligase IV deficiency
p.Thr87= Single submitter DNA ligase IV deficiency
p.Thr881= Single submitter DNA ligase IV deficiency
p.Thr9= Single submitter DNA ligase IV deficiency
p.Tyr298= Single submitter DNA ligase IV deficiency
p.Tyr335= Single submitter DNA ligase IV deficiency
p.Tyr364= Single submitter DNA ligase IV deficiency
p.Tyr438= Single submitter DNA ligase IV deficiency
p.Tyr525= Single submitter DNA ligase IV deficiency
p.Tyr65= Single submitter DNA ligase IV deficiency
p.Tyr761= Single submitter DNA ligase IV deficiency
p.Tyr765= Single submitter DNA ligase IV deficiency
p.Tyr803= Single submitter DNA ligase IV deficiency
p.Tyr82= Single submitter DNA ligase IV deficiency
p.Tyr93= Single submitter DNA ligase IV deficiency
p.Val217= Single submitter DNA ligase IV deficiency
p.Val224= Single submitter DNA ligase IV deficiency
p.Val287= Single submitter DNA ligase IV deficiency
p.Val355= Single submitter DNA ligase IV deficiency
p.Val369= Single submitter DNA ligase IV deficiency
p.Val403= Single submitter DNA ligase IV deficiency
p.Val431= Single submitter DNA ligase IV deficiency
p.Val555= Single submitter DNA ligase IV deficiency
p.Val557= Single submitter DNA ligase IV deficiency
p.Val637= Single submitter DNA ligase IV deficiency
p.Val666= Single submitter DNA ligase IV deficiency
p.Val690= Single submitter DNA ligase IV deficiency
p.Val721= Single submitter DNA ligase IV deficiency
p.Val777= Single submitter DNA ligase IV deficiency
p.Val852= Single submitter DNA ligase IV deficiency
p.Val860= Single submitter DNA ligase IV deficiency
c.-37C>G No assertion criteria LIG4-related disorder
p.Asn209= No assertion criteria LIG4-related disorder
p.His229= No assertion criteria LIG4-related disorder
p.Ile767Val No assertion criteria DNA ligase IV deficiency

Uncertain significance 369

Showing the top 300 by review status; the full set is in the sitemap.

c.-32C>T Multiple submitters DNA ligase IV deficiency
c.*486A>G Multiple submitters DNA ligase IV deficiency
p.Ala523Gly Multiple submitters Inborn genetic diseases ⚠
p.Ala611Thr Multiple submitters DNA ligase IV deficiency ⚠
p.Ala702Gly Multiple submitters Inborn genetic diseases ⚠
p.Ala797Val Multiple submitters DNA ligase IV deficiency ⚠
p.Ala824Ser Multiple submitters Inborn genetic diseases ⚠
p.Ala850Val Multiple submitters DNA ligase IV deficiency ⚠
p.Arg25Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg293Gln Multiple submitters DNA ligase IV deficiency ⚠
p.Arg32Cys Multiple submitters DNA ligase IV deficiency ⚠
p.Arg32Leu Multiple submitters DNA ligase IV deficiency ⚠
p.Arg577His Multiple submitters DNA ligase IV deficiency ⚠
p.Arg580Gln Multiple submitters DNA ligase IV deficiency ⚠
p.Arg585Ile Multiple submitters DNA ligase IV deficiency ⚠
p.Arg603Trp Multiple submitters DNA ligase IV deficiency ⚠
p.Arg628Gln Multiple submitters DNA ligase IV deficiency ⚠
p.Arg628Trp Multiple submitters plasma cell myeloma ⚠
p.Arg756His Multiple submitters Inborn genetic diseases ⚠
p.Arg756Ser Multiple submitters Inborn genetic diseases ⚠
p.Arg77Lys Multiple submitters DNA ligase IV deficiency ⚠
p.Arg802Trp Multiple submitters DNA ligase IV deficiency ⚠
p.Arg815Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg846Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg871His Multiple submitters DNA ligase IV deficiency ⚠
p.Arg880del Multiple submitters DNA ligase IV deficiency
p.Asn412Ser Multiple submitters severe combined immunodeficiency due to DCLRE1C deficiency ⚠
p.Asp300Asn Multiple submitters LIG4-related disorder ⚠
p.Asp416Gly Multiple submitters Inborn genetic diseases ⚠
p.Asp416Tyr Multiple submitters DNA ligase IV deficiency ⚠
p.Asp586His Multiple submitters DNA ligase IV deficiency ⚠
p.Asp587Asn Multiple submitters Inborn genetic diseases ⚠
p.Asp821Gly Multiple submitters DNA ligase IV deficiency
p.Cys365Phe Multiple submitters DNA ligase IV deficiency
p.Cys574Arg Multiple submitters DNA ligase IV deficiency ⚠
p.Gln146Arg Multiple submitters DNA ligase IV deficiency ⚠
p.Gln177Glu Multiple submitters DNA ligase IV deficiency ⚠
p.Gln177Leu Multiple submitters DNA ligase IV deficiency ⚠
p.Glu679Gln Multiple submitters DNA ligase IV deficiency
p.Glu786Lys Multiple submitters DNA ligase IV deficiency ⚠
p.Glu95Lys Multiple submitters DNA ligase IV deficiency ⚠
p.Gly197Ala Multiple submitters Inborn genetic diseases ⚠
p.Gly197Val Multiple submitters Inborn genetic diseases ⚠
p.Gly295Arg Multiple submitters Inborn genetic diseases ⚠
p.Gly330Val Multiple submitters DNA ligase IV deficiency ⚠
p.Gly398Asp Multiple submitters DNA ligase IV deficiency ⚠
p.Gly446Ala Multiple submitters DNA ligase IV deficiency ⚠
p.Gly866Arg Multiple submitters Inborn genetic diseases ⚠
p.His745Arg Multiple submitters Inborn genetic diseases ⚠
p.Ile175Thr Multiple submitters DNA ligase IV deficiency
p.Ile187Thr Multiple submitters DNA ligase IV deficiency
p.Ile203Val Multiple submitters DNA ligase IV deficiency ⚠
p.Ile323Thr Multiple submitters severe combined immunodeficiency due to DCLRE1C deficiency ⚠
p.Ile415Thr Multiple submitters DNA ligase IV deficiency ⚠
p.Ile638Thr Multiple submitters DNA ligase IV deficiency ⚠
p.Ile682Leu Multiple submitters Inborn genetic diseases ⚠
p.Ile888Leu Multiple submitters DNA ligase IV deficiency ⚠
p.Ile94Val Multiple submitters DNA ligase IV deficiency ⚠
p.Leu328del Multiple submitters DNA ligase IV deficiency
p.Leu539Phe Multiple submitters severe combined immunodeficiency due to DCLRE1C deficiency ⚠
p.Leu820Phe Multiple submitters DNA ligase IV deficiency ⚠
p.Leu829Pro Multiple submitters DNA ligase IV deficiency ⚠
p.Lys513Arg Multiple submitters DNA ligase IV deficiency ⚠
p.Lys626Glu Multiple submitters DNA ligase IV deficiency ⚠
p.Met127Ile Multiple submitters DNA ligase IV deficiency ⚠
p.Met263Ile Multiple submitters DNA ligase IV deficiency ⚠
p.Met263Thr Multiple submitters DNA ligase IV deficiency ⚠
p.Met354Thr Multiple submitters DNA ligase IV deficiency
p.Met479Ile Multiple submitters DNA ligase IV deficiency ⚠
p.Met512Ile Multiple submitters DNA ligase IV deficiency ⚠
p.Met569Val Multiple submitters DNA ligase IV deficiency
p.Met68Ile Multiple submitters DNA ligase IV deficiency ⚠
p.Met812Arg Multiple submitters DNA ligase IV deficiency ⚠
p.Phe39Leu Multiple submitters DNA ligase IV deficiency ⚠
p.Phe64Ser Multiple submitters Inborn genetic diseases ⚠
p.Pro434Ser Multiple submitters Inborn genetic diseases
p.Pro535Leu Multiple submitters LIG4-related disorder ⚠
p.Pro566Ser Multiple submitters DNA ligase IV deficiency ⚠
p.Pro809Ala Multiple submitters severe combined immunodeficiency due to DCLRE1C deficiency ⚠
p.Pro809Leu Multiple submitters DNA ligase IV deficiency ⚠
p.Ser391Gly Multiple submitters DNA ligase IV deficiency ⚠
p.Ser672Arg Multiple submitters severe combined immunodeficiency due to DCLRE1C deficiency ⚠
p.Ser715Thr Multiple submitters DNA ligase IV deficiency ⚠
p.Ser749Pro Multiple submitters DNA ligase IV deficiency ⚠
p.Thr176Pro Multiple submitters DNA ligase IV deficiency ⚠
p.Trp738Met Multiple submitters DNA ligase IV deficiency
p.Tyr298His Multiple submitters DNA ligase IV deficiency ⚠
p.Tyr616Cys Multiple submitters Inborn genetic diseases ⚠
p.Tyr758Cys Multiple submitters Inborn genetic diseases
p.Tyr823His Multiple submitters DNA ligase IV deficiency ⚠
p.Val198Ile Multiple submitters DNA ligase IV deficiency ⚠
p.Val499Ala Multiple submitters plasma cell myeloma ⚠
p.Val499Met Multiple submitters Inborn genetic diseases ⚠
p.Val547Ile Multiple submitters DNA ligase IV deficiency ⚠
c.-101-159G>C Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
c.-101-8C>A Single submitter
c.*166G>C Single submitter DNA ligase IV deficiency
c.*242A>G Single submitter DNA ligase IV deficiency
c.*26C>G Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
c.*285A>G Single submitter DNA ligase IV deficiency
c.*291A>G Single submitter DNA ligase IV deficiency
c.*306A>G Single submitter DNA ligase IV deficiency
c.*352A>C Single submitter DNA ligase IV deficiency
c.*525T>G Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
c.*56G>C Single submitter DNA ligase IV deficiency
c.*736C>G Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
c.*738G>A Single submitter DNA ligase IV deficiency
c.*781A>G Single submitter severe combined immunodeficiency due to DCLRE1C deficiency
c.*857T>C Single submitter DNA ligase IV deficiency
c.*906T>A Single submitter DNA ligase IV deficiency
p.Ala122Val Single submitter Inborn genetic diseases ⚠
p.Ala156Val Single submitter DNA ligase IV deficiency
p.Ala161Gly Single submitter DNA ligase IV deficiency ⚠
p.Ala180Thr Single submitter DNA ligase IV deficiency ⚠
p.Ala211Pro Single submitter Inborn genetic diseases ⚠
p.Ala252Gly Single submitter DNA ligase IV deficiency ⚠
p.Ala304Val Single submitter DNA ligase IV deficiency ⚠
p.Ala33Thr Single submitter DNA ligase IV deficiency ⚠
p.Ala408Val Single submitter DNA ligase IV deficiency ⚠
p.Ala417Gly Single submitter DNA ligase IV deficiency ⚠
p.Ala417Val Single submitter DNA ligase IV deficiency ⚠
p.Ala533Gly Single submitter DNA ligase IV deficiency ⚠
p.Ala630Pro Single submitter DNA ligase IV deficiency ⚠
p.Ala631Ser Single submitter DNA ligase IV deficiency ⚠
p.Ala873Gly Single submitter DNA ligase IV deficiency ⚠
p.Arg32His Single submitter DNA ligase IV deficiency ⚠
p.Arg385Ser Single submitter DNA ligase IV deficiency ⚠
p.Arg476Gln Single submitter Inborn genetic diseases ⚠
p.Arg476Trp Single submitter DNA ligase IV deficiency ⚠
p.Arg505Cys Single submitter DNA ligase IV deficiency ⚠
p.Arg505His Single submitter DNA ligase IV deficiency
p.Arg577Cys Single submitter Inborn genetic diseases ⚠
p.Arg681Lys Single submitter DNA ligase IV deficiency ⚠
p.Arg802Gln Single submitter DNA ligase IV deficiency ⚠
p.Arg814Leu Single submitter DNA ligase IV deficiency ⚠
p.Arg815His Single submitter DNA ligase IV deficiency ⚠
p.Arg815Leu Single submitter DNA ligase IV deficiency ⚠
p.Arg846Trp Single submitter DNA ligase IV deficiency ⚠
p.Arg871Cys Single submitter DNA ligase IV deficiency ⚠
p.Asn216del Single submitter DNA ligase IV deficiency
p.Asn297Asp Single submitter DNA ligase IV deficiency ⚠
p.Asn317Asp Single submitter DNA ligase IV deficiency ⚠
p.Asn412Thr Single submitter DNA ligase IV deficiency ⚠
p.Asn56Asp Single submitter Inborn genetic diseases ⚠
p.Asn648His Single submitter DNA ligase IV deficiency ⚠
p.Asn680Asp Single submitter DNA ligase IV deficiency ⚠
p.Asn827Ser Single submitter DNA ligase IV deficiency ⚠
p.Asp121Gly Single submitter Inborn genetic diseases ⚠
p.Asp165Asn Single submitter DNA ligase IV deficiency ⚠
p.Asp18Val Single submitter DNA ligase IV deficiency ⚠
p.Asp230Val Single submitter DNA ligase IV deficiency ⚠
p.Asp255Gly Single submitter DNA ligase IV deficiency ⚠
p.Asp275Tyr Single submitter ⚠
p.Asp286Asn Single submitter DNA ligase IV deficiency ⚠
p.Asp322Asn Single submitter DNA ligase IV deficiency ⚠
p.Asp350Asn Single submitter DNA ligase IV deficiency ⚠
p.Asp368Asn Single submitter ⚠
p.Asp368Tyr Single submitter ⚠
p.Asp416His Single submitter DNA ligase IV deficiency ⚠
p.Asp416Val Single submitter Inborn genetic diseases ⚠
p.Asp441Asn Single submitter DNA ligase IV deficiency ⚠
p.Asp441Val Single submitter Inborn genetic diseases ⚠
p.Asp460Glu Single submitter DNA ligase IV deficiency ⚠
p.Asp568Ala Single submitter Inborn genetic diseases ⚠
p.Asp568Gly Single submitter DNA ligase IV deficiency ⚠
p.Asp586Glu Single submitter DNA ligase IV deficiency ⚠
p.Asp586Tyr Single submitter DNA ligase IV deficiency ⚠
p.Asp597Glu Single submitter Inborn genetic diseases ⚠
p.Asp598Asn Single submitter DNA ligase IV deficiency ⚠
p.Asp620Gly Single submitter DNA ligase IV deficiency ⚠
p.Asp62Asn Single submitter DNA ligase IV deficiency ⚠
p.Asp661Ala Single submitter DNA ligase IV deficiency ⚠
p.Asp759Gly Single submitter DNA ligase IV deficiency ⚠
p.Asp763Ala Single submitter Inborn genetic diseases ⚠
p.Asp828Asn Single submitter DNA ligase IV deficiency ⚠
p.Cys20Phe Single submitter Inborn genetic diseases ⚠
p.Cys574Leu Single submitter DNA ligase IV deficiency
p.Cys699Phe Single submitter Inborn genetic diseases ⚠
p.Cys747Arg Single submitter DNA ligase IV deficiency ⚠
p.Gln266Pro Single submitter Inborn genetic diseases ⚠
p.Gln301Glu Single submitter ⚠
p.Gln324Arg Single submitter Inborn genetic diseases ⚠
p.Gln5His Single submitter DNA ligase IV deficiency ⚠
p.Gln739Pro Single submitter DNA ligase IV deficiency ⚠
p.Gln773Lys Single submitter DNA ligase IV deficiency ⚠
p.Glu222Asp Single submitter DNA ligase IV deficiency ⚠
p.Glu427Ala Single submitter ⚠
p.Glu461Gly Single submitter DNA ligase IV deficiency ⚠
p.Glu514Asp Single submitter DNA ligase IV deficiency
p.Glu546Lys Single submitter DNA ligase IV deficiency ⚠
p.Glu663Asp Single submitter ⚠
p.Glu679Lys Single submitter DNA ligase IV deficiency ⚠
p.Glu684Lys Single submitter DNA ligase IV deficiency ⚠
p.Glu776Asp Single submitter DNA ligase IV deficiency ⚠
p.Glu867Lys Single submitter Inborn genetic diseases ⚠
p.Glu891Gly Single submitter ⚠
p.Glu902Lys Single submitter Inborn genetic diseases ⚠
p.Gly103Glu Single submitter DNA ligase IV deficiency
p.Gly276Asp Single submitter ⚠
p.Gly285Val Single submitter DNA ligase IV deficiency ⚠
p.Gly295Glu Single submitter DNA ligase IV deficiency ⚠
p.Gly398Arg Single submitter DNA ligase IV deficiency ⚠
p.Gly398Val Single submitter DNA ligase IV deficiency ⚠
p.Gly428Val Single submitter Inborn genetic diseases ⚠
p.Gly472Asp Single submitter DNA ligase IV deficiency ⚠
p.Gly494Val Single submitter DNA ligase IV deficiency ⚠
p.Gly507Arg Single submitter DNA ligase IV deficiency ⚠
p.Gly619Ser Single submitter DNA ligase IV deficiency ⚠
p.Gly639Ala Single submitter DNA ligase IV deficiency ⚠
p.Gly687Ser Single submitter DNA ligase IV deficiency ⚠
p.Gly762Ser Single submitter DNA ligase IV deficiency ⚠
p.Gly780Glu Single submitter DNA ligase IV deficiency ⚠
p.Gly849Arg Single submitter DNA ligase IV deficiency ⚠
p.His215Tyr Single submitter DNA ligase IV deficiency ⚠
p.His258Arg Single submitter DNA ligase IV deficiency ⚠
p.His265_Gln266delinsGlnLys Single submitter DNA ligase IV deficiency
p.His265Arg Single submitter DNA ligase IV deficiency ⚠
p.His379Pro Single submitter Inborn genetic diseases ⚠
p.His501Arg Single submitter DNA ligase IV deficiency ⚠
p.His50Arg Single submitter DNA ligase IV deficiency ⚠
p.His54Arg Single submitter Inborn genetic diseases ⚠
p.His848Arg Single submitter ⚠
p.His848Asp Single submitter Inborn genetic diseases ⚠
p.His862Gln Single submitter DNA ligase IV deficiency ⚠
p.Ile191Leu Single submitter Inborn genetic diseases ⚠
p.Ile238Leu Single submitter DNA ligase IV deficiency ⚠
p.Ile240Val Single submitter DNA ligase IV deficiency ⚠
p.Ile253Val Single submitter DNA ligase IV deficiency ⚠
p.Ile256Lys Single submitter DNA ligase IV deficiency
p.Ile323Lys Single submitter Inborn genetic diseases ⚠
p.Ile36Met Single submitter DNA ligase IV deficiency ⚠
p.Ile400Leu Single submitter DNA ligase IV deficiency ⚠
p.Ile400Thr Single submitter DNA ligase IV deficiency ⚠
p.Ile402Val Single submitter DNA ligase IV deficiency ⚠
p.Ile422Thr Single submitter DNA ligase IV deficiency ⚠
p.Ile437Leu Single submitter DNA ligase IV deficiency ⚠
p.Ile466Val Single submitter DNA ligase IV deficiency ⚠
p.Ile549Thr Single submitter Inborn genetic diseases ⚠
p.Ile584Thr Single submitter DNA ligase IV deficiency ⚠
p.Ile617Val Single submitter DNA ligase IV deficiency ⚠
p.Ile640Met Single submitter DNA ligase IV deficiency ⚠
p.Ile640Phe Single submitter DNA ligase IV deficiency ⚠
p.Ile640Val Single submitter DNA ligase IV deficiency ⚠
p.Ile641Thr Single submitter DNA ligase IV deficiency ⚠
p.Ile658Met Single submitter DNA ligase IV deficiency ⚠
p.Ile658Thr Single submitter DNA ligase IV deficiency ⚠
p.Ile682Met Single submitter DNA ligase IV deficiency ⚠
p.Ile689Thr Single submitter ⚠
p.Ile707Phe Single submitter DNA ligase IV deficiency ⚠
p.Ile713Met Single submitter DNA ligase IV deficiency ⚠
p.Ile796Met Single submitter DNA ligase IV deficiency ⚠
p.Ile796Ser Single submitter DNA ligase IV deficiency ⚠
p.Ile840Thr Single submitter DNA ligase IV deficiency ⚠
p.Ile864Met Single submitter DNA ligase IV deficiency ⚠
p.Ile865Thr Single submitter Inborn genetic diseases ⚠
p.Ile888Phe Single submitter DNA ligase IV deficiency ⚠
p.Leu194Ser Single submitter Inborn genetic diseases
p.Leu19Phe Single submitter DNA ligase IV deficiency ⚠
p.Leu242del Single submitter DNA ligase IV deficiency
p.Leu389Arg Single submitter DNA ligase IV deficiency ⚠
p.Leu465Ser Single submitter Inborn genetic diseases ⚠
p.Leu503Val Single submitter DNA ligase IV deficiency ⚠
p.Leu610Ile Single submitter DNA ligase IV deficiency ⚠
p.Leu644Phe Single submitter DNA ligase IV deficiency ⚠
p.Leu678Met Single submitter Inborn genetic diseases ⚠
p.Leu678Val Single submitter DNA ligase IV deficiency ⚠
p.Leu70Pro Single submitter DNA ligase IV deficiency ⚠
p.Leu70Val Single submitter DNA ligase IV deficiency ⚠
p.Leu714Phe Single submitter Inborn genetic diseases ⚠
p.Leu72Ile Single submitter DNA ligase IV deficiency ⚠
p.Leu774Val Single submitter DNA ligase IV deficiency ⚠
p.Leu829Arg Single submitter DNA ligase IV deficiency ⚠
p.Leu903Ser Single submitter DNA ligase IV deficiency ⚠
p.Leu96Phe Single submitter DNA ligase IV deficiency ⚠
p.Lys169Met Single submitter DNA ligase IV deficiency ⚠
p.Lys320Arg Single submitter DNA ligase IV deficiency ⚠
p.Lys411Glu Single submitter DNA ligase IV deficiency ⚠
p.Lys449Asn Single submitter ⚠
p.Lys496Arg Single submitter DNA ligase IV deficiency ⚠
p.Lys532Asn Single submitter Inborn genetic diseases ⚠
p.Lys58Glu Single submitter DNA ligase IV deficiency ⚠
p.Lys613Asn Single submitter DNA ligase IV deficiency ⚠
p.Lys627del Single submitter DNA ligase IV deficiency
p.Lys635Arg Single submitter ⚠
p.Lys731Asn Single submitter DNA ligase IV deficiency ⚠
p.Lys733Glu Single submitter DNA ligase IV deficiency ⚠
p.Lys887Glu Single submitter DNA ligase IV deficiency ⚠
p.Lys900Gln Single submitter DNA ligase IV deficiency ⚠
p.Met279Arg Single submitter DNA ligase IV deficiency ⚠
p.Met281Thr Single submitter DNA ligase IV deficiency ⚠
p.Met332Thr Single submitter DNA ligase IV deficiency ⚠
p.Met371Ile Single submitter DNA ligase IV deficiency
p.Met430Thr Single submitter DNA ligase IV deficiency ⚠
p.Met459Val Single submitter Inborn genetic diseases ⚠
p.Met479Leu Single submitter DNA ligase IV deficiency ⚠
p.Met480Ile Single submitter DNA ligase IV deficiency ⚠
p.Met594Leu Single submitter DNA ligase IV deficiency ⚠
p.Met746Thr Single submitter DNA ligase IV deficiency ⚠
p.Met88Val Single submitter ⚠
p.Phe342Ser Single submitter ⚠