LIG1 — 814 ClinVar variants
All ClinVar germline LIG1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 280 flagged for review →
2 Pathogenic · 1 Likely pathogenic · 8 Conflicting · 45 Benign · 19 Benign/Likely benign · 417 Likely benign · 322 Uncertain significance
Full LIG1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 280
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 4
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
Predictors lean, ClinVar uncertain 196
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 196
- LIG1 p.Ala269Thr Uncertain significance Multiple submitters
- LIG1 p.Ala293Val Uncertain significance Multiple submitters
- LIG1 p.Ala443Thr Uncertain significance Multiple submitters
- LIG1 p.Ala462Ser Uncertain significance Multiple submitters
- LIG1 p.Ala578Thr Uncertain significance Multiple submitters
- LIG1 p.Ala708Thr Uncertain significance Multiple submitters
- LIG1 p.Arg122Cys Uncertain significance Multiple submitters
- LIG1 p.Arg122His Uncertain significance Multiple submitters
- LIG1 p.Arg235Gln Uncertain significance Multiple submitters
- LIG1 p.Arg307Gln Uncertain significance Multiple submitters
- LIG1 p.Arg370Gln Uncertain significance Multiple submitters
- LIG1 p.Arg449Gln Uncertain significance Multiple submitters
- LIG1 p.Arg62Gln Uncertain significance Multiple submitters
-
LIG1 p.Arg672Cys
Uncertain significance
Multiple submitters
immunodeficiency 96
- LIG1 p.Arg774Gln Uncertain significance Multiple submitters
- LIG1 p.Arg871His Uncertain significance Multiple submitters
- LIG1 p.Arg874Trp Uncertain significance Multiple submitters
- LIG1 p.Arg898Gln Uncertain significance Multiple submitters
-
LIG1 p.Arg94His
Uncertain significance
Multiple submitters
immunodeficiency 96
- LIG1 p.Asp351Ala Uncertain significance Multiple submitters
- LIG1 p.Asp72Glu Uncertain significance Multiple submitters
- LIG1 p.Asp833His Uncertain significance Multiple submitters
- LIG1 p.Gln654His Uncertain significance Multiple submitters
- LIG1 p.Gln680His Uncertain significance Multiple submitters
- LIG1 p.Glu210Asp Uncertain significance Multiple submitters
- LIG1 p.Glu909Lys Uncertain significance Multiple submitters
- LIG1 p.Gly763Ser Uncertain significance Multiple submitters
-
LIG1 p.Gly776Arg
Uncertain significance
Multiple submitters
immunodeficiency 96
- LIG1 p.Lys845Asn Uncertain significance Multiple submitters
- LIG1 p.Pro11Arg Uncertain significance Multiple submitters
- LIG1 p.Pro187Ala Uncertain significance Multiple submitters
- LIG1 p.Pro196Leu Uncertain significance Multiple submitters
-
LIG1 p.Pro260Ser
Uncertain significance
Multiple submitters
immunodeficiency 96
- LIG1 p.Pro398Leu Uncertain significance Multiple submitters
- LIG1 p.Pro52Leu Uncertain significance Multiple submitters
- LIG1 p.Pro99Arg Uncertain significance Multiple submitters
- LIG1 p.Ser787Arg Uncertain significance Multiple submitters
- LIG1 p.Ser787Cys Uncertain significance Multiple submitters
- LIG1 p.Thr123Lys Uncertain significance Multiple submitters
- LIG1 p.Thr183Ala Uncertain significance Multiple submitters
- LIG1 p.Thr183Met Uncertain significance Multiple submitters
- LIG1 p.Thr197Met Uncertain significance Multiple submitters
- LIG1 p.Thr207Met Uncertain significance Multiple submitters
- LIG1 p.Tyr569His Uncertain significance Multiple submitters
-
LIG1 p.Val200Ile
Uncertain significance
Multiple submitters
immunodeficiency 96
- LIG1 p.Val276Leu Uncertain significance Multiple submitters
- LIG1 p.Val53Met Uncertain significance Multiple submitters
- LIG1 p.Val816Leu Uncertain significance Multiple submitters
- LIG1 p.Val841Leu Uncertain significance Multiple submitters
- LIG1 p.Ala103Gly Uncertain significance Single submitter
- LIG1 p.Ala124Thr Uncertain significance Single submitter
- LIG1 p.Ala148Pro Uncertain significance Single submitter
- LIG1 p.Ala224Gly Uncertain significance Single submitter
- LIG1 p.Ala269Ser Uncertain significance Single submitter
- LIG1 p.Ala293Ser Uncertain significance Single submitter
- LIG1 p.Ala321Val Uncertain significance Single submitter
- LIG1 p.Ala60Ser Uncertain significance Single submitter
- LIG1 p.Ala648Val Uncertain significance Single submitter
- LIG1 p.Ala74Val Uncertain significance Single submitter
- LIG1 p.Ala764Thr Uncertain significance Single submitter
- LIG1 p.Ala781Val Uncertain significance Single submitter
- LIG1 p.Ala78Gly Uncertain significance Single submitter
- LIG1 p.Ala840Thr Uncertain significance Single submitter
- LIG1 p.Ala891Thr Uncertain significance Single submitter
- LIG1 p.Ala96Asp Uncertain significance Single submitter
- LIG1 p.Arg222His Uncertain significance Single submitter
- LIG1 p.Arg294Gln Uncertain significance Single submitter
- LIG1 p.Arg294Trp Uncertain significance Single submitter
- LIG1 p.Arg364Leu Uncertain significance Single submitter
- LIG1 p.Arg387Leu Uncertain significance Single submitter
- LIG1 p.Arg3Gln Uncertain significance Single submitter
- LIG1 p.Arg527His Uncertain significance Single submitter
- LIG1 p.Arg55Gly Uncertain significance Single submitter
- LIG1 p.Arg55Lys Uncertain significance Single submitter
- LIG1 p.Arg55Thr Uncertain significance Single submitter
- LIG1 p.Arg627Gln Uncertain significance Single submitter
-
LIG1 p.Arg641Leu
Uncertain significance
Single submitter
immunodeficiency 96
- LIG1 p.Arg643Cys Uncertain significance Single submitter
- LIG1 p.Arg672His Uncertain significance Single submitter
- LIG1 p.Arg678His Uncertain significance Single submitter
- LIG1 p.Arg768Gln Uncertain significance Single submitter
- LIG1 p.Arg771Gln Uncertain significance Single submitter
- LIG1 p.Arg774Trp Uncertain significance Single submitter
- LIG1 p.Arg859Gln Uncertain significance Single submitter
- LIG1 p.Arg871Cys Uncertain significance Single submitter
- LIG1 p.Asn101Tyr Uncertain significance Single submitter
- LIG1 p.Asn272Ser Uncertain significance Single submitter
- LIG1 p.Asn385Asp Uncertain significance Single submitter
- LIG1 p.Asn385Ser Uncertain significance Single submitter
- LIG1 p.Asn685Lys Uncertain significance Single submitter
- LIG1 p.Asp326His Uncertain significance Single submitter
- LIG1 p.Asp378Asn Uncertain significance Single submitter
- LIG1 p.Asp593Glu Uncertain significance Single submitter
- LIG1 p.Asp647Asn Uncertain significance Single submitter
- LIG1 p.Asp784Asn Uncertain significance Single submitter
- LIG1 p.Asp827Ala Uncertain significance Single submitter
- LIG1 p.Asp863Gly Uncertain significance Single submitter
- LIG1 p.Asp910Glu Uncertain significance Single submitter
- LIG1 p.Cys656Tyr Uncertain significance Single submitter
- LIG1 p.Gln134Arg Uncertain significance Single submitter
- LIG1 p.Gln217Glu Uncertain significance Single submitter
- LIG1 p.Gln572Arg Uncertain significance Single submitter
- LIG1 p.Gln652His Uncertain significance Single submitter
- LIG1 p.Gln81His Uncertain significance Single submitter
- LIG1 p.Gln907His Uncertain significance Single submitter
- LIG1 p.Glu14Gly Uncertain significance Single submitter
- LIG1 p.Glu168Lys Uncertain significance Single submitter
- LIG1 p.Glu213Gln Uncertain significance Single submitter
- LIG1 p.Glu215Lys Uncertain significance Single submitter
- LIG1 p.Glu254Lys Uncertain significance Single submitter
- LIG1 p.Glu367Val Uncertain significance Single submitter
- LIG1 p.Glu41Lys Uncertain significance Single submitter
- LIG1 p.Glu650Ala Uncertain significance Single submitter
- LIG1 p.Glu709Lys Uncertain significance Single submitter
- LIG1 p.Glu885Lys Uncertain significance Single submitter
- LIG1 p.Gly15Asp Uncertain significance Single submitter
- LIG1 p.Gly178Arg Uncertain significance Single submitter
- LIG1 p.Gly259Arg Uncertain significance Single submitter
- LIG1 p.Gly348Val Uncertain significance Single submitter
- LIG1 p.Gly550Asp Uncertain significance Single submitter
- LIG1 p.Gly721Val Uncertain significance Single submitter
- LIG1 p.Gly773Ser Uncertain significance Single submitter
- LIG1 p.Gly777Asp Uncertain significance Single submitter
- LIG1 p.His337Arg Uncertain significance Single submitter
- LIG1 p.His577Arg Uncertain significance Single submitter
- LIG1 p.Ile299Met Uncertain significance Single submitter
- LIG1 p.Ile586Phe Uncertain significance Single submitter
- LIG1 p.Leu188Gln Uncertain significance Single submitter
- LIG1 p.Leu261Pro Uncertain significance Single submitter
- LIG1 p.Leu290Pro Uncertain significance Single submitter
- LIG1 p.Leu315Phe Uncertain significance Single submitter
- LIG1 p.Leu328Pro Uncertain significance Single submitter
- LIG1 p.Leu355Phe Uncertain significance Single submitter
- LIG1 p.Leu392Phe Uncertain significance Single submitter
- LIG1 p.Leu463Phe Uncertain significance Single submitter
-
LIG1 p.Leu64Pro
Uncertain significance
Single submitter
immunodeficiency 96
- LIG1 p.Leu745Val Uncertain significance Single submitter
- LIG1 p.Lys18Asn Uncertain significance Single submitter
- LIG1 p.Lys236Arg Uncertain significance Single submitter
- LIG1 p.Lys244Thr Uncertain significance Single submitter
- LIG1 p.Lys270Arg Uncertain significance Single submitter
- LIG1 p.Lys356Glu Uncertain significance Single submitter
- LIG1 p.Lys487Arg Uncertain significance Single submitter
- LIG1 p.Lys504Arg Uncertain significance Single submitter
- LIG1 p.Lys813Arg Uncertain significance Single submitter
- LIG1 p.Met111Thr Uncertain significance Single submitter
- LIG1 p.Met393Val Uncertain significance Single submitter
- LIG1 p.Met543Thr Uncertain significance Single submitter
- LIG1 p.Met6Thr Uncertain significance Single submitter
- LIG1 p.Phe405Leu Uncertain significance Single submitter
Predictors split 80
The independent predictors disagree with each other — read with care.
- LIG1 p.Ala412Thr Uncertain significance Multiple submitters
- LIG1 p.Ala545Gly Uncertain significance Multiple submitters
- LIG1 p.Arg131Gln Uncertain significance Multiple submitters
- LIG1 p.Arg131Trp Uncertain significance Multiple submitters
- LIG1 p.Arg235Trp Likely benign Multiple submitters
- LIG1 p.Arg370Trp Uncertain significance Multiple submitters
- LIG1 p.Arg435Cys Uncertain significance Multiple submitters
- LIG1 p.Arg449Trp Uncertain significance Multiple submitters
- LIG1 p.Arg677Leu Benign Multiple submitters
- LIG1 p.Arg677Trp Uncertain significance Multiple submitters
- LIG1 p.Arg768Trp Uncertain significance Multiple submitters
- LIG1 p.Arg821His Uncertain significance Multiple submitters
- LIG1 p.Asp833Asn Uncertain significance Multiple submitters
- LIG1 p.Gly524Ser Uncertain significance Multiple submitters
- LIG1 p.Lys747Arg Uncertain significance Multiple submitters
- LIG1 p.Phe231Cys Uncertain significance Multiple submitters
- LIG1 p.Pro395Leu Uncertain significance Multiple submitters
- LIG1 p.Pro529Ser Uncertain significance Multiple submitters
- LIG1 p.Thr470Met Uncertain significance Multiple submitters
- LIG1 p.Thr614Ile Benign Multiple submitters
- LIG1 p.Val519Leu Uncertain significance Multiple submitters
- LIG1 p.Val519Met Uncertain significance Multiple submitters
- LIG1 p.Ala696Thr Uncertain significance Single submitter
- LIG1 p.Ala814Val Uncertain significance Single submitter
- LIG1 p.Ala847Ser Uncertain significance Single submitter
- LIG1 p.Ala858Ser Uncertain significance Single submitter
- LIG1 p.Ala894Gly Uncertain significance Single submitter
- LIG1 p.Arg121Cys Uncertain significance Single submitter
- LIG1 p.Arg121His Uncertain significance Single submitter
- LIG1 p.Arg307Trp Uncertain significance Single submitter
- LIG1 p.Arg364Gln Uncertain significance Single submitter
- LIG1 p.Arg387Cys Uncertain significance Single submitter
- LIG1 p.Arg527Cys Uncertain significance Single submitter
- LIG1 p.Arg549Trp Uncertain significance Single submitter
- LIG1 p.Arg557Cys Uncertain significance Single submitter
- LIG1 p.Arg604Cys Uncertain significance Single submitter
- LIG1 p.Arg604His Uncertain significance Single submitter
- LIG1 p.Arg627Trp Uncertain significance Single submitter
- LIG1 p.Arg683Trp Uncertain significance Single submitter
- LIG1 p.Arg825Trp Uncertain significance Single submitter
- LIG1 p.Arg898Trp Uncertain significance Single submitter
- LIG1 p.Asn336Ser Uncertain significance Single submitter
- LIG1 p.Asp145Tyr Uncertain significance Single submitter
- LIG1 p.Asp50Tyr Uncertain significance Single submitter
- LIG1 p.Asp700Asn Uncertain significance Single submitter
- LIG1 p.Asp728Val Uncertain significance Single submitter
- LIG1 p.Asp751Ala Uncertain significance Single submitter
- LIG1 p.Glu497Val Uncertain significance Single submitter
- LIG1 p.Glu668Gly Uncertain significance Single submitter
- LIG1 p.Glu690Lys Uncertain significance Single submitter
- LIG1 p.Glu785Lys Uncertain significance Single submitter
- LIG1 p.Gly448Arg Likely benign Single submitter
- LIG1 p.Gly473Asp Uncertain significance Single submitter
- LIG1 p.His523Leu Uncertain significance Single submitter
- LIG1 p.Leu335Phe Conflicting Single submitter
- LIG1 p.Leu555Val Uncertain significance Single submitter
- LIG1 p.Lys716Glu Uncertain significance Single submitter
- LIG1 p.Lys882Arg Uncertain significance Single submitter
- LIG1 p.Phe441Leu Uncertain significance Single submitter
- LIG1 p.Pro397His Uncertain significance Single submitter
- LIG1 p.Pro471Thr Uncertain significance Single submitter
- LIG1 p.Pro477Leu Uncertain significance Single submitter
- LIG1 p.Pro529Leu Uncertain significance Single submitter
- LIG1 p.Pro611Leu Uncertain significance Single submitter
- LIG1 p.Pro77His Uncertain significance Single submitter
- LIG1 p.Pro884Leu Uncertain significance Single submitter
- LIG1 p.Pro884Ser Uncertain significance Single submitter
- LIG1 p.Ser163Ile Uncertain significance Single submitter
- LIG1 p.Ser230Arg Uncertain significance Single submitter
- LIG1 p.Ser334Asn Uncertain significance Single submitter
- LIG1 p.Ser386Asn Uncertain significance Single submitter
- LIG1 p.Ser612Leu Uncertain significance Single submitter
- LIG1 p.Ser612Trp Uncertain significance Single submitter
- LIG1 p.Thr295Met Uncertain significance Single submitter
- LIG1 p.Thr389Ile Uncertain significance Single submitter
- LIG1 p.Thr400Ile Uncertain significance Single submitter
- LIG1 p.Thr506Met Uncertain significance Single submitter
- LIG1 p.Thr889Ala Uncertain significance Single submitter
- LIG1 p.Val319Ala Uncertain significance Single submitter
- LIG1 p.Val646Leu Uncertain significance Single submitter
All LIG1 variants
Pathogenic 2
- p.Thr415fs Single submitter immunodeficiency 96
- p.Glu566Lys No assertion criteria immunodeficiency 96
Likely pathogenic 1
- p.Leu815fs Single submitter immunodeficiency 96
Conflicting classifications of pathogenicity 8
- c.1331+6C>T Single submitter immunodeficiency 96
- c.244-5T>A Single submitter immunodeficiency 96
- c.776+5G>T Single submitter immunodeficiency 96
- p.Arg409Cys Single submitter ⚠
- p.Arg771Trp Single submitter immunodeficiency 96 ⚠
- p.Ile424Thr Single submitter ⚠
- p.Leu335Phe Single submitter ⚠
- p.Ser782Ala Single submitter ⚠
Benign 45
- c.17+12C>T Multiple submitters
- c.1821+14A>T Multiple submitters
- c.2232+10G>A Multiple submitters
- c.2439+12C>T Multiple submitters
- c.2439+19G>A Multiple submitters
- c.370+20_370+27del Multiple submitters
- c.914+15C>A Multiple submitters
- c.-7C>T Multiple submitters
- p.Ala170= Multiple submitters
- p.Ala24Val Multiple submitters
- p.Arg409His Multiple submitters
- p.Arg677Leu Multiple submitters ⚠
- p.Asn267Ser Multiple submitters
- p.Asp802= Multiple submitters
- p.Gln900= Multiple submitters
- p.Gly377= Multiple submitters
- p.Ile762= Multiple submitters
- p.Met480Val Multiple submitters
- p.Pro884= Multiple submitters
- p.Thr614Ile Multiple submitters ⚠
- p.Val169= Multiple submitters
- p.Val369Ile Multiple submitters
- c.108-34C>T Single submitter
- c.1254+154T>G Single submitter
- c.1331+31G>C Single submitter
- c.1332-90A>G Single submitter
- c.1423+56C>T Single submitter
- c.17+98T>C Single submitter
- c.1821+35G>A Single submitter
- c.1822-131G>A Single submitter
- c.2005-29C>T Single submitter
- c.2232+16dup Single submitter
- c.2233-46G>A Single submitter
- c.2386-36T>C Single submitter
- c.2386-98T>C Single submitter
- c.244-48A>G Single submitter
- c.370+33G>A Single submitter
- c.466+10dup Single submitter
- c.777-21A>G Single submitter
- c.777-5C>T Single submitter
- c.858-27A>G Single submitter
- c.914+68T>C Single submitter
- c.915-15del Single submitter
- c.-57-87dup Single submitter
- p.Gly249Glu Single submitter
Benign/Likely benign 19
- c.108-5T>C Multiple submitters
- c.108-9A>G Multiple submitters
- c.1523+12G>A Multiple submitters
- c.1726-8C>T Multiple submitters
- c.1821+17C>G Multiple submitters
- c.1933-18C>T Multiple submitters
- c.2233-15C>T Multiple submitters
- c.2584-10G>A Multiple submitters
- c.370+7A>G Multiple submitters
- c.467-18C>T Multiple submitters
- p.Ala622= Multiple submitters
- p.Ala781= Multiple submitters
- p.Ile735= Multiple submitters
- p.Leu430= Multiple submitters
- p.Pro606= Multiple submitters
- p.Ser318= Multiple submitters
- p.Ser47Phe Multiple submitters immunodeficiency 96
- p.Val349Met Multiple submitters
- p.Val729= Multiple submitters
Likely benign 417
Showing the top 300 by review status; the full set is in the sitemap.
- c.1088-15C>T Multiple submitters
- c.1088-17C>T Multiple submitters
- c.1254+16C>T Multiple submitters
- c.1254+20C>T Multiple submitters
- c.1255-16T>A Multiple submitters
- c.1331+7G>A Multiple submitters
- c.1423+18G>A Multiple submitters
- c.1524-11C>T Multiple submitters
- c.17+8C>A Multiple submitters
- c.17+8C>T Multiple submitters
- c.1725+7G>A Multiple submitters
- c.18-20_18-19insA Multiple submitters
- c.2005-11C>T Multiple submitters
- c.2150-20C>T Multiple submitters
- c.2385+13_2385+14del Multiple submitters
- c.2386-16C>T Multiple submitters
- c.2439+18C>T Multiple submitters
- c.2583+11G>C Multiple submitters
- c.2584-11C>T Multiple submitters
- c.2584-4G>A Multiple submitters
- c.2677-4_2677-3del Multiple submitters
- c.2677-4G>C Multiple submitters
- c.370+9A>G Multiple submitters
- c.467-17G>A Multiple submitters
- c.467-6C>T Multiple submitters
- c.777-9C>T Multiple submitters
- p.Ala24Thr Multiple submitters
- p.Ala374= Multiple submitters
- p.Ala648= Multiple submitters
- p.Ala84= Multiple submitters
- p.Ala858= Multiple submitters
- p.Arg235Trp Multiple submitters ⚠
- p.Arg440= Multiple submitters
- p.Arg94Cys Multiple submitters
- p.Asn590= Multiple submitters
- p.Asp703= Multiple submitters
- p.Asp837= Multiple submitters
- p.Glu67= Multiple submitters
- p.Glu709= Multiple submitters
- p.Glu789= Multiple submitters
- p.Gly175= Multiple submitters
- p.Gly348= Multiple submitters
- p.His523= Multiple submitters
- p.Ile707= Multiple submitters
- p.Leu528= Multiple submitters
- p.Leu534= Multiple submitters
- p.Lys120= Multiple submitters
- p.Pro518= Multiple submitters
- p.Pro599= Multiple submitters
- p.Pro832= Multiple submitters
- p.Ser199= Multiple submitters
- p.Ser447= Multiple submitters
- p.Ser47= Multiple submitters
- p.Ser66= Multiple submitters
- p.Ser739= Multiple submitters
- p.Thr108= Multiple submitters
- p.Thr494= Multiple submitters
- p.Thr506= Multiple submitters
- p.Thr620= Multiple submitters
- p.Tyr658= Multiple submitters
- p.Tyr733= Multiple submitters
- c.108-11C>T Single submitter
- c.108-12C>T Single submitter
- c.108-14T>G Single submitter
- c.108-20C>G Single submitter
- c.108-7C>G Single submitter
- c.108-9A>C Single submitter
- c.1087+13G>A Single submitter
- c.1087+14_1087+15del Single submitter
- c.1087+16G>T Single submitter
- c.1088-11C>G Single submitter
- c.1088-13C>T Single submitter
- c.1088-14G>T Single submitter
- c.1088-16G>A Single submitter
- c.1088-20A>G Single submitter
- c.1088-9C>T Single submitter
- c.1254+11C>G Single submitter
- c.1254+11C>T Single submitter
- c.1254+12G>A Single submitter
- c.1254+12G>C Single submitter
- c.1254+17G>A Single submitter
- c.1254+17G>T Single submitter
- c.1254+9G>A Single submitter
- c.1255-11T>C Single submitter
- c.1255-12_1255-11del Single submitter
- c.1255-18C>T Single submitter
- c.1255-4C>T Single submitter
- c.1331+14C>A Single submitter
- c.1331+15C>T Single submitter
- c.1331+16T>C Single submitter
- c.1331+7G>C Single submitter
- c.1332-11T>C Single submitter
- c.1332-11TC[2] Single submitter
- c.1332-13G>A Single submitter
- c.1423+14G>A Single submitter
- c.1423+17_1423+20del Single submitter
- c.1423+17C>T Single submitter
- c.1423+18_1423+25del Single submitter
- c.1423+19T>G Single submitter
- c.1423+20C>T Single submitter
- c.1423+7T>C Single submitter
- c.1424-17G>A Single submitter
- c.1523+8C>T Single submitter
- c.1524-10G>A Single submitter
- c.1524-18T>C Single submitter
- c.1524-6C>T Single submitter
- c.1609+12A>C Single submitter
- c.1609+13G>C Single submitter
- c.1609+17C>T Single submitter
- c.1609+18G>A Single submitter
- c.1609+8C>A Single submitter
- c.1610-16T>C Single submitter
- c.1610-4C>A Single submitter
- c.1610-5C>T Single submitter
- c.1610-8T>C Single submitter
- c.17+13C>T Single submitter
- c.17+7A>G Single submitter
- c.1725+16C>T Single submitter
- c.1725+7G>C Single submitter
- c.1726-10A>G Single submitter
- c.1726-12C>A Single submitter
- c.1726-13C>G Single submitter
- c.1726-18C>T Single submitter
- c.1726-5G>T Single submitter
- c.1726-7G>A Single submitter
- c.1726-7G>C Single submitter
- c.1726-8C>G Single submitter
- c.1726-9T>A Single submitter
- c.18-11T>C Single submitter
- c.18-18C>T Single submitter
- c.18-4C>G Single submitter
- c.18-4C>T Single submitter
- c.18-6C>T Single submitter
- c.1821+10T>A Single submitter
- c.1821+12C>T Single submitter
- c.1821+17C>T Single submitter
- c.1821+19C>T Single submitter
- c.1821+7G>A Single submitter
- c.1821+9C>G Single submitter
- c.1822-10C>T Single submitter
- c.1822-13C>T Single submitter
- c.1822-17C>G Single submitter
- c.1822-25_1822-19del Single submitter
- c.1932+12C>T Single submitter
- c.1932+13G>A Single submitter
- c.1932+20T>C Single submitter
- c.1933-17G>A Single submitter
- c.1933-9C>G Single submitter
- c.2004+17T>C Single submitter
- c.2004+18G>T Single submitter
- c.2005-12C>T Single submitter
- c.2005-15C>T Single submitter
- c.2005-19C>A Single submitter
- c.2005-6C>T Single submitter
- c.2005-8C>T Single submitter
- c.2005-9del Single submitter
- c.2149+15T>G Single submitter
- c.2149+19C>T Single submitter
- c.2149+9G>C Single submitter
- c.2150-13G>A Single submitter
- c.2150-18C>A Single submitter
- c.2150-19G>A Single submitter
- c.2232+16C>A Single submitter
- c.2232+17A>T Single submitter
- c.2232+9C>T Single submitter
- c.2233-24_2233-5dup Single submitter
- c.2233-7C>T Single submitter
- c.2233-9T>G Single submitter
- c.2386-10C>T Single submitter
- c.2386-11C>T Single submitter
- c.2386-14C>T Single submitter
- c.2386-15G>A Single submitter
- c.243+16C>A Single submitter
- c.243+17C>T Single submitter
- c.243+20C>T Single submitter
- c.2439+11G>A Single submitter
- c.2439+16T>C Single submitter
- c.2439+7C>A Single submitter
- c.244-17G>C Single submitter
- c.244-18T>C Single submitter
- c.2440-13C>T Single submitter
- c.2440-14T>A Single submitter
- c.2440-9T>G Single submitter
- c.2583+16C>T Single submitter
- c.2584-12C>T Single submitter
- c.2584-14_2584-13delinsAA Single submitter
- c.2676+11G>C Single submitter
- c.2677-15A>G Single submitter
- c.2677-20G>A Single submitter
- c.2677-20G>T Single submitter
- c.2677-4G>A Single submitter
- c.370+12C>T Single submitter
- c.370+17C>T Single submitter
- c.370+19_370+26del Single submitter
- c.370+20del Single submitter
- c.370+20T>C Single submitter
- c.370+20T>G Single submitter
- c.370+21_370+27del Single submitter
- c.370+3_370+10dup Single submitter
- c.371-10G>C Single submitter
- c.371-11T>C Single submitter
- c.371-16C>T Single submitter
- c.371-17G>A Single submitter
- c.371-4C>G Single submitter
- c.371-9C>A Single submitter
- c.466+11A>T Single submitter
- c.466+17A>C Single submitter
- c.466+9C>T Single submitter
- c.467-10C>A Single submitter
- c.467-12_467-9del Single submitter
- c.467-8A>G Single submitter
- c.574+17C>G Single submitter
- c.574+20C>T Single submitter
- c.574+8T>G Single submitter
- c.575-10C>G Single submitter
- c.575-4G>A Single submitter
- c.575-5C>T Single submitter
- c.697+16T>C Single submitter
- c.698-14G>C Single submitter
- c.698-14G>T Single submitter
- c.698-9C>T Single submitter
- c.776+10T>C Single submitter
- c.776+14C>T Single submitter
- c.776+20T>C Single submitter
- c.776+9G>A Single submitter
- c.777-15G>A Single submitter
- c.777-16C>T Single submitter
- c.777-19C>T Single submitter
- c.777-4G>A Single submitter
- c.777-4G>T Single submitter
- c.777-6C>T Single submitter
- c.857+12C>G Single submitter
- c.857+16T>C Single submitter
- c.857+20A>T Single submitter
- c.858-12_858-11del Single submitter
- c.858-14T>C Single submitter
- c.858-19G>A Single submitter
- c.858-4C>G Single submitter
- c.858-5C>T Single submitter
- c.858-6C>G Single submitter
- c.915-11C>T Single submitter
- c.915-12C>G Single submitter
- c.915-14G>A Single submitter
- c.915-15C>G Single submitter
- c.915-15C>T Single submitter
- c.915-20A>G Single submitter
- c.915-4C>G Single submitter
- c.915-5_915-3del Single submitter
- c.915-9C>T Single submitter
- p.Ala206= Single submitter
- p.Ala269= Single submitter
- p.Ala293= Single submitter
- p.Ala37= Single submitter
- p.Ala373= Single submitter
- p.Ala373Val Single submitter
- p.Ala383= Single submitter
- p.Ala401= Single submitter
- p.Ala462= Single submitter
- p.Ala483= Single submitter
- p.Ala60= Single submitter
- p.Ala61= Single submitter
- p.Ala764= Single submitter
- p.Ala772= Single submitter
- p.Ala814= Single submitter
- p.Arg121= Single submitter
- p.Arg125= Single submitter
- p.Arg146= Single submitter
- p.Arg150= Single submitter
- p.Arg409= Single submitter
- p.Arg449= Single submitter
- p.Arg604= Single submitter
- p.Arg859= Single submitter
- p.Asp143= Single submitter
- p.Asp50= Single submitter
- p.Asp570= Single submitter
- p.Asp593= Single submitter
- p.Asp626= Single submitter
- p.Asp717= Single submitter
- p.Asp755= Single submitter
- p.Asp758= Single submitter
- p.Asp784= Single submitter
- p.Asp833= Single submitter
- p.Asp86= Single submitter
- p.Asp881= Single submitter
- p.Cys565= Single submitter
- p.Cys719= Single submitter
- p.Cys846= Single submitter
- p.Gln342= Single submitter
- p.Gln906= Single submitter
- p.Glu142= Single submitter
- p.Glu32= Single submitter
- p.Glu41= Single submitter
- p.Glu438= Single submitter
- p.Glu530= Single submitter
- p.Glu553= Single submitter
- p.Glu566= Single submitter
- p.Gly117= Single submitter
- p.Gly15= Single submitter
- p.Gly178= Single submitter
- p.Gly249= Single submitter
Uncertain significance 322
Showing the top 300 by review status; the full set is in the sitemap.
- p.Ala269Thr Multiple submitters ⚠
- p.Ala293Val Multiple submitters ⚠
- p.Ala412Thr Multiple submitters ⚠
- p.Ala443Thr Multiple submitters ⚠
- p.Ala462Ser Multiple submitters ⚠
- p.Ala545Gly Multiple submitters ⚠
- p.Ala578Thr Multiple submitters ⚠
- p.Ala708Thr Multiple submitters ⚠
- p.Arg122Cys Multiple submitters ⚠
- p.Arg122His Multiple submitters ⚠
- p.Arg131Gln Multiple submitters ⚠
- p.Arg131Trp Multiple submitters ⚠
- p.Arg235Gln Multiple submitters ⚠
- p.Arg307Gln Multiple submitters ⚠
- p.Arg370Gln Multiple submitters ⚠
- p.Arg370Trp Multiple submitters ⚠
- p.Arg435Cys Multiple submitters ⚠
- p.Arg449Gln Multiple submitters ⚠
- p.Arg449Trp Multiple submitters ⚠
- p.Arg62Gln Multiple submitters ⚠
- p.Arg672Cys Multiple submitters immunodeficiency 96 ⚠
- p.Arg677Trp Multiple submitters ⚠
- p.Arg768Trp Multiple submitters ⚠
- p.Arg774Gln Multiple submitters ⚠
- p.Arg821His Multiple submitters ⚠
- p.Arg871His Multiple submitters ⚠
- p.Arg874Trp Multiple submitters ⚠
- p.Arg898Gln Multiple submitters ⚠
- p.Arg94His Multiple submitters immunodeficiency 96 ⚠
- p.Asp351Ala Multiple submitters ⚠
- p.Asp72Glu Multiple submitters ⚠
- p.Asp833Asn Multiple submitters ⚠
- p.Asp833His Multiple submitters ⚠
- p.Gln654His Multiple submitters ⚠
- p.Gln680His Multiple submitters ⚠
- p.Glu210Asp Multiple submitters ⚠
- p.Glu909Lys Multiple submitters ⚠
- p.Gly524Ser Multiple submitters ⚠
- p.Gly763Ser Multiple submitters ⚠
- p.Gly776Arg Multiple submitters immunodeficiency 96 ⚠
- p.His436fs Multiple submitters immunodeficiency 96
- p.Lys747Arg Multiple submitters ⚠
- p.Lys845Asn Multiple submitters ⚠
- p.Phe231Cys Multiple submitters ⚠
- p.Pro11Arg Multiple submitters ⚠
- p.Pro187Ala Multiple submitters ⚠
- p.Pro196Leu Multiple submitters ⚠
- p.Pro260Ser Multiple submitters immunodeficiency 96 ⚠
- p.Pro395Leu Multiple submitters ⚠
- p.Pro398Leu Multiple submitters ⚠
- p.Pro529Ser Multiple submitters ⚠
- p.Pro52Leu Multiple submitters ⚠
- p.Pro99Arg Multiple submitters ⚠
- p.Ser612Ter Multiple submitters
- p.Ser787Arg Multiple submitters ⚠
- p.Ser787Cys Multiple submitters ⚠
- p.Thr123Lys Multiple submitters ⚠
- p.Thr183Ala Multiple submitters ⚠
- p.Thr183Met Multiple submitters ⚠
- p.Thr197Met Multiple submitters ⚠
- p.Thr207Met Multiple submitters ⚠
- p.Thr470Met Multiple submitters ⚠
- p.Tyr569His Multiple submitters ⚠
- p.Val200Ile Multiple submitters immunodeficiency 96 ⚠
- p.Val276Leu Multiple submitters ⚠
- p.Val519Leu Multiple submitters ⚠
- p.Val519Met Multiple submitters ⚠
- p.Val53Met Multiple submitters ⚠
- p.Val816Leu Multiple submitters ⚠
- p.Val841Leu Multiple submitters ⚠
- c.1087+6G>A Single submitter
- c.1088-2_1094del Single submitter
- c.1088-3A>T Single submitter
- c.1331+3A>G Single submitter
- c.1424-2A>G Single submitter
- c.1610-3C>G Single submitter
- c.1822-5T>C Single submitter
- c.2005-10G>A Single submitter
- c.2150-3C>T Single submitter
- c.2385+4C>A Single submitter
- c.2385+5T>C Single submitter
- c.243+4G>C Single submitter
- c.2439+6C>A Single submitter
- c.244-1G>A Single submitter
- c.2440-1G>A Single submitter
- c.370+6A>G Single submitter
- c.466+5G>C Single submitter
- c.575-8C>G Single submitter
- c.698-3T>C Single submitter
- c.776+4A>C Single submitter
- c.857+6del Single submitter
- c.857+6G>T Single submitter
- c.-8_17+1del Single submitter
- p.Ala103Gly Single submitter ⚠
- p.Ala124Thr Single submitter ⚠
- p.Ala148Pro Single submitter ⚠
- p.Ala224Gly Single submitter ⚠
- p.Ala269Ser Single submitter ⚠
- p.Ala293Ser Single submitter ⚠
- p.Ala321Val Single submitter ⚠
- p.Ala60Ser Single submitter ⚠
- p.Ala648Val Single submitter ⚠
- p.Ala696Thr Single submitter ⚠
- p.Ala74Val Single submitter ⚠
- p.Ala764Thr Single submitter ⚠
- p.Ala781Val Single submitter ⚠
- p.Ala78Gly Single submitter ⚠
- p.Ala814Val Single submitter ⚠
- p.Ala840Thr Single submitter ⚠
- p.Ala847Ser Single submitter ⚠
- p.Ala858Ser Single submitter ⚠
- p.Ala891Thr Single submitter ⚠
- p.Ala894Gly Single submitter ⚠
- p.Ala96Asp Single submitter ⚠
- p.Arg121Cys Single submitter ⚠
- p.Arg121His Single submitter ⚠
- p.Arg222His Single submitter ⚠
- p.Arg294Gln Single submitter ⚠
- p.Arg294Trp Single submitter ⚠
- p.Arg307Trp Single submitter ⚠
- p.Arg364Gln Single submitter ⚠
- p.Arg364Leu Single submitter ⚠
- p.Arg387Cys Single submitter ⚠
- p.Arg387Leu Single submitter ⚠
- p.Arg3Gln Single submitter ⚠
- p.Arg451Cys Single submitter
- p.Arg451His Single submitter
- p.Arg515Ter Single submitter
- p.Arg527Cys Single submitter ⚠
- p.Arg527His Single submitter ⚠
- p.Arg549Trp Single submitter ⚠
- p.Arg557Cys Single submitter ⚠
- p.Arg55Gly Single submitter ⚠
- p.Arg55Lys Single submitter ⚠
- p.Arg55Thr Single submitter ⚠
- p.Arg604Cys Single submitter ⚠
- p.Arg604His Single submitter ⚠
- p.Arg627Gln Single submitter ⚠
- p.Arg627Trp Single submitter ⚠
- p.Arg641Leu Single submitter immunodeficiency 96 ⚠
- p.Arg643Cys Single submitter ⚠
- p.Arg672His Single submitter ⚠
- p.Arg678His Single submitter ⚠
- p.Arg683Trp Single submitter ⚠
- p.Arg768Gln Single submitter ⚠
- p.Arg771Gln Single submitter ⚠
- p.Arg774= Single submitter
- p.Arg774Trp Single submitter ⚠
- p.Arg821Ser Single submitter
- p.Arg825Trp Single submitter ⚠
- p.Arg859Gln Single submitter ⚠
- p.Arg871Cys Single submitter ⚠
- p.Arg898Trp Single submitter ⚠
- p.Asn101Tyr Single submitter ⚠
- p.Asn272Ser Single submitter ⚠
- p.Asn336Ser Single submitter ⚠
- p.Asn385Asp Single submitter ⚠
- p.Asn385Ser Single submitter ⚠
- p.Asn590fs Single submitter
- p.Asn685Lys Single submitter ⚠
- p.Asp145Tyr Single submitter ⚠
- p.Asp326His Single submitter ⚠
- p.Asp378Asn Single submitter ⚠
- p.Asp50Tyr Single submitter ⚠
- p.Asp593Glu Single submitter ⚠
- p.Asp647Asn Single submitter ⚠
- p.Asp700Asn Single submitter ⚠
- p.Asp728Val Single submitter ⚠
- p.Asp751Ala Single submitter ⚠
- p.Asp784Asn Single submitter ⚠
- p.Asp827Ala Single submitter ⚠
- p.Asp863Gly Single submitter ⚠
- p.Asp910Glu Single submitter ⚠
- p.Cys656Tyr Single submitter ⚠
- p.Gln134Arg Single submitter ⚠
- p.Gln217Glu Single submitter ⚠
- p.Gln360Ter Single submitter
- p.Gln572Arg Single submitter ⚠
- p.Gln652His Single submitter ⚠
- p.Gln81His Single submitter ⚠
- p.Gln907His Single submitter ⚠
- p.Glu14Gly Single submitter ⚠
- p.Glu168Lys Single submitter ⚠
- p.Glu213Gln Single submitter ⚠
- p.Glu215Lys Single submitter ⚠
- p.Glu216del Single submitter
- p.Glu254Lys Single submitter ⚠
- p.Glu367Val Single submitter ⚠
- p.Glu41Lys Single submitter ⚠
- p.Glu497Val Single submitter ⚠
- p.Glu650Ala Single submitter ⚠
- p.Glu668Gly Single submitter ⚠
- p.Glu690Lys Single submitter ⚠
- p.Glu709Lys Single submitter ⚠
- p.Glu785Lys Single submitter ⚠
- p.Glu803Lys Single submitter
- p.Glu885Lys Single submitter ⚠
- p.Gly15Asp Single submitter ⚠
- p.Gly178Arg Single submitter ⚠
- p.Gly259Arg Single submitter ⚠
- p.Gly344Asp Single submitter
- p.Gly348Val Single submitter ⚠
- p.Gly473Asp Single submitter ⚠
- p.Gly550Asp Single submitter ⚠
- p.Gly721Val Single submitter ⚠
- p.Gly773Ser Single submitter ⚠
- p.Gly777Asp Single submitter ⚠
- p.Gly860Cys Single submitter
- p.Gly908= Single submitter
- p.His10fs Single submitter
- p.His337Arg Single submitter ⚠
- p.His523_Glu526del Single submitter
- p.His523Leu Single submitter ⚠
- p.His577Arg Single submitter ⚠
- p.Ile299Met Single submitter ⚠
- p.Ile586Phe Single submitter ⚠
- p.Ile793Met Single submitter
- p.Leu188Gln Single submitter ⚠
- p.Leu261Pro Single submitter ⚠
- p.Leu290Pro Single submitter ⚠
- p.Leu315Phe Single submitter ⚠
- p.Leu328Pro Single submitter ⚠
- p.Leu355del Single submitter
- p.Leu355Phe Single submitter ⚠
- p.Leu392Phe Single submitter ⚠
- p.Leu463Phe Single submitter ⚠
- p.Leu555Val Single submitter ⚠
- p.Leu64Pro Single submitter immunodeficiency 96 ⚠
- p.Leu745Val Single submitter ⚠
- p.Lys152del Single submitter
- p.Lys18Asn Single submitter ⚠
- p.Lys236Arg Single submitter ⚠
- p.Lys244Thr Single submitter ⚠
- p.Lys270Arg Single submitter ⚠
- p.Lys356Glu Single submitter ⚠
- p.Lys487Arg Single submitter ⚠
- p.Lys504Arg Single submitter ⚠
- p.Lys716Glu Single submitter ⚠
- p.Lys744= Single submitter
- p.Lys813Arg Single submitter ⚠
- p.Lys866Ter Single submitter
- p.Lys882Arg Single submitter ⚠
- p.Met111Thr Single submitter ⚠
- p.Met393Val Single submitter ⚠
- p.Met543Thr Single submitter ⚠
- p.Met6Thr Single submitter ⚠
- p.Phe231Ser Single submitter
- p.Phe405Leu Single submitter ⚠
- p.Phe441Leu Single submitter ⚠
- p.Phe476Ile Single submitter ⚠
- p.Phe558Leu Single submitter ⚠
- p.Phe9fs Single submitter
- p.Pro110Ser Single submitter ⚠
- p.Pro119Leu Single submitter ⚠
- p.Pro184Leu Single submitter ⚠
- p.Pro220Leu Single submitter ⚠
- p.Pro225fs Single submitter
- p.Pro234Ser Single submitter ⚠
- p.Pro251Ser Single submitter ⚠
- p.Pro260Leu Single submitter ⚠
- p.Pro260Thr Single submitter ⚠
- p.Pro283Leu Single submitter immunodeficiency 96 ⚠
- p.Pro325Arg Single submitter ⚠
- p.Pro325Leu Single submitter ⚠
- p.Pro33Thr Single submitter immunodeficiency 96 ⚠
- p.Pro397His Single submitter ⚠
- p.Pro471Thr Single submitter ⚠
- p.Pro477Leu Single submitter ⚠
- p.Pro529Leu Single submitter ⚠
- p.Pro599Leu Single submitter ⚠
- p.Pro611Leu Single submitter ⚠
- p.Pro77His Single submitter ⚠
- p.Pro822Ser Single submitter ⚠
- p.Pro884Leu Single submitter ⚠
- p.Pro884Ser Single submitter ⚠
- p.Pro915Ser Single submitter ⚠
- p.Pro92Leu Single submitter ⚠
- p.Pro95Leu Single submitter ⚠
- p.Ser163Asn Single submitter ⚠
- p.Ser163Ile Single submitter ⚠
- p.Ser191= Single submitter
- p.Ser199Gly Single submitter ⚠
- p.Ser230Arg Single submitter ⚠
- p.Ser264Pro Single submitter LIG1-related disorder ⚠
- p.Ser334Asn Single submitter ⚠
- p.Ser386Asn Single submitter ⚠
- p.Ser406Gly Single submitter ⚠
- p.Ser447Asn Single submitter ⚠
- p.Ser458Leu Single submitter ⚠
- p.Ser552Gly Single submitter ⚠
- p.Ser612Leu Single submitter ⚠
- p.Ser612Trp Single submitter ⚠
- p.Ser739Ter Single submitter
- p.Ser839Arg Single submitter ⚠
- p.Thr132Asn Single submitter ⚠
- p.Thr132Ile Single submitter ⚠
- p.Thr165Ile Single submitter ⚠
- p.Thr182Ile Single submitter ⚠
- p.Thr197Lys Single submitter ⚠
- p.Thr218Ser Single submitter ⚠