Total 127 pathogenic variants reported for DNA ligase IV deficiency 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_206937.2(LIG4):c.1738C>T (p.Arg580Ter) SNV
Germline		 Chr13:108209531 Pathogenic/Likely pathogenic DNA ligase IV deficiency
Condition: not provided
Multiple myeloma
DNA ligase IV deficiency		 Criteria Provided
Multiple Submitters
No Conflicts
 CA118972 rs_104894418

4 SubmittersRCV000008111RCV001092918RCV005007834
NM_206937.2(LIG4):c.2440C>T (p.Arg814Ter) SNV
Germline		 Chr13:108208829 Pathogenic/Likely pathogenic DNA ligase IV deficiency
Condition: not provided
Inborn genetic diseases
Multiple myeloma
DNA ligase IV deficiency
prenatal LIG4 syndrome with aqueductal stenosis
LIG4-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA118975 rs_104894419

13 SubmittersRCV000008112RCV000399723RCV000623453RCV000763320RCV003483426RCV004532308
NM_206937.2(LIG4):c.1406G>A (p.Gly469Glu) SNV
Germline		 Chr13:108209863 Pathogenic DNA ligase IV deficiency No Assertion Criteria Provided
 CA118978 rs_104894420

1 SubmittersRCV000008113
NM_206937.2(LIG4):c.833G>A (p.Arg278His) SNV
Germline		 Chr13:108210436 Pathogenic DNA ligase IV deficiency
Condition: not provided
Severe combined immunodeficiency disease		 Criteria Provided
Multiple Submitters
No Conflicts
 CA118981 rs_104894421

5 SubmittersRCV000008114RCV001092919RCV005417421
NM_206937.2(LIG4):c.686A>G (p.His229Arg) SNV
Germline		 Chr13:108210583 Conflicting classifications of pathogenicity not specified
Condition: not provided
DNA ligase IV deficiency
LIG4-related disorder		 Criteria Provided
Conflicting Classifications
 CA209972 rs_142957638

4 SubmittersRCV000195272RCV000732275RCV001082219RCV004541244
NM_206937.2(LIG4):c.1312T>C (p.Tyr438His) SNV
Germline		 Chr13:108209957 Likely pathogenic DNA ligase IV deficiency Criteria Provided
Single Submitter
 CA10576017 rs_886037777

1 SubmittersRCV000241548
NM_206937.2(LIG4):c.2274T>C (p.Tyr758=) SNV
Germline		 Chr13:108208995 Conflicting classifications of pathogenicity Severe combined immunodeficiency due to DCLRE1C deficiency
DNA ligase IV deficiency		 Criteria Provided
Conflicting Classifications
 CA7043533 rs_529756815

2 SubmittersRCV000279874RCV000372014
NM_206937.2(LIG4):c.2499T>C (p.Asn833=) SNV
Germline		 Chr13:108208770 Conflicting classifications of pathogenicity Severe combined immunodeficiency due to DCLRE1C deficiency
DNA ligase IV deficiency		 Criteria Provided
Conflicting Classifications
 CA7043480 rs_769297575

2 SubmittersRCV000285774RCV000343104
NM_206937.2(LIG4):c.13C>A (p.Gln5Lys) SNV
Germline		 Chr13:108211256 Conflicting classifications of pathogenicity DNA ligase IV deficiency
Severe combined immunodeficiency due to DCLRE1C deficiency
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA7043910 rs_143590752

3 SubmittersRCV000290093RCV000347931RCV002520853
NM_206937.2(LIG4):c.2525C>A (p.Ala842Asp) SNV
Germline		 Chr13:108208744 Conflicting classifications of pathogenicity DNA ligase IV deficiency
DNA ligase IV deficiency
Multiple myeloma
Condition: not provided
Severe combined immunodeficiency due to DCLRE1C deficiency
not specified
LIG4-related disorder		 Criteria Provided
Conflicting Classifications
 CA7043477 rs_72660870

8 SubmittersRCV000272998RCV000763874RCV000857399RCV000383863RCV001820917RCV004537756
NM_206937.2(LIG4):c.2222G>A (p.Arg741His) SNV
Germline		 Chr13:108209047 Conflicting classifications of pathogenicity Severe combined immunodeficiency due to DCLRE1C deficiency
DNA ligase IV deficiency
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA7043543 rs_143767581

4 SubmittersRCV000337673RCV000393674RCV003238753RCV002520851
NM_206937.2(LIG4):c.1983T>C (p.Asp661=) SNV
Germline		 Chr13:108209286 Conflicting classifications of pathogenicity Severe combined immunodeficiency due to DCLRE1C deficiency
DNA ligase IV deficiency
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA7043571 rs_199638675

3 SubmittersRCV000312009RCV000350550RCV003884460
NM_206937.2(LIG4):c.1252T>C (p.Leu418=) SNV
Germline		 Chr13:108210017 Conflicting classifications of pathogenicity Severe combined immunodeficiency due to DCLRE1C deficiency
DNA ligase IV deficiency		 Criteria Provided
Conflicting Classifications
 CA7043721 rs_147181971

2 SubmittersRCV000315847RCV000378553
NM_206937.2(LIG4):c.563G>A (p.Arg188Gln) SNV
Germline		 Chr13:108210706 Conflicting classifications of pathogenicity Severe combined immunodeficiency due to DCLRE1C deficiency
DNA ligase IV deficiency
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA7043827 rs_748385144

3 SubmittersRCV000302024RCV000359181RCV000481605RCV002520852
NM_206937.2(LIG4):c.500T>G (p.Ile167Arg) SNV
Germline		 Chr13:108210769 Conflicting classifications of pathogenicity DNA ligase IV deficiency
Severe combined immunodeficiency due to DCLRE1C deficiency
LIG4-related disorder		 Criteria Provided
Conflicting Classifications
 CA7043833 rs_138021217

3 SubmittersRCV000318407RCV000356462RCV004732844
NM_206937.2(LIG4):c.1020A>G (p.Gln340=) SNV
Germline		 Chr13:108210249 Conflicting classifications of pathogenicity DNA ligase IV deficiency
Severe combined immunodeficiency due to DCLRE1C deficiency		 Criteria Provided
Conflicting Classifications
 CA7043762 rs_535025599

2 SubmittersRCV000338575RCV000386052
NM_206937.2(LIG4):c.2321T>C (p.Leu774Pro) SNV
Germline		 Chr13:108208948 Likely pathogenic DNA ligase IV deficiency Criteria Provided
Single Submitter
 CA16609403 rs_1060499662

1 SubmittersRCV000449526
NM_206937.2(LIG4):c.1345A>C (p.Lys449Gln) SNV
Germline		 Chr13:108209924 Conflicting classifications of pathogenicity not specified
DNA ligase IV deficiency
Multiple myeloma
DNA ligase IV deficiency		 Criteria Provided
Conflicting Classifications
 CA7043706 rs_758694012

3 SubmittersRCV000497617RCV001219812RCV005010417
NM_206937.2(LIG4):c.285G>A (p.Glu95=) SNV
Germline		 Chr13:108210984 Conflicting classifications of pathogenicity not specified
DNA ligase IV deficiency
Severe combined immunodeficiency due to DCLRE1C deficiency
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA7043863 rs_150146196

7 SubmittersRCV000503379RCV000641093RCV001111061RCV001575568
NM_206937.2(LIG4):c.1103A>T (p.Asp368Val) SNV
Germline		 Chr13:108210166 Conflicting classifications of pathogenicity Condition: not provided
not specified
DNA ligase IV deficiency		 Criteria Provided
Conflicting Classifications
 CA388618366 rs_1220876973

3 SubmittersRCV000788185RCV005432421RCV003619721
NM_206937.2(LIG4):c.712A>G (p.Ile238Val) SNV
Germline		 Chr13:108210557 Conflicting classifications of pathogenicity DNA ligase IV deficiency
DNA ligase IV deficiency
Multiple myeloma		 Criteria Provided
Conflicting Classifications
 CA7043808 rs_149012859

4 SubmittersRCV000823935RCV003224478
NM_206937.2(LIG4):c.847A>G (p.Lys283Glu) SNV
Germline		 Chr13:108210422 Likely pathogenic DNA ligase IV deficiency Criteria Provided
Multiple Submitters
No Conflicts
 CA388619699 rs_1594462950

2 SubmittersRCV001007660
NM_206937.2(LIG4):c.1242A>C (p.Val414=) SNV
Germline		 Chr13:108210027 Conflicting classifications of pathogenicity DNA ligase IV deficiency
DNA ligase IV deficiency
Multiple myeloma		 Criteria Provided
Conflicting Classifications
 CA7043726 rs_150828164

2 SubmittersRCV001027792RCV003224505
NM_206937.2(LIG4):c.845A>T (p.His282Leu) SNV
Germline		 Chr13:108210424 Pathogenic DNA ligase IV deficiency
Severe combined immunodeficiency disease		 Criteria Provided
Multiple Submitters
No Conflicts
 CA7043790 rs_777008519

2 SubmittersRCV001048790RCV002240198
NM_206937.2(LIG4):c.691C>T (p.Pro231Ser) SNV
Germline		 Chr13:108210578 Conflicting classifications of pathogenicity DNA ligase IV deficiency
DNA ligase IV deficiency
Multiple myeloma
not specified		 Criteria Provided
Conflicting Classifications
 CA7043809 rs_3093765

3 SubmittersRCV001035435RCV002481849RCV003151267
NM_206937.2(LIG4):c.1971T>C (p.Asn657=) SNV
Germline		 Chr13:108209298 Conflicting classifications of pathogenicity Severe combined immunodeficiency due to DCLRE1C deficiency
DNA ligase IV deficiency		 Criteria Provided
Conflicting Classifications
 CA7043574 rs_764483419

2 SubmittersRCV001112887RCV001112886
NM_206937.2(LIG4):c.1830C>T (p.Leu610=) SNV
Germline		 Chr13:108209439 Conflicting classifications of pathogenicity DNA ligase IV deficiency
Severe combined immunodeficiency due to DCLRE1C deficiency		 Criteria Provided
Conflicting Classifications
 CA7043608 rs_768563098

2 SubmittersRCV001114245RCV001114246
NM_206937.2(LIG4):c.1710T>C (p.Tyr570=) SNV
Germline		 Chr13:108209559 Conflicting classifications of pathogenicity DNA ligase IV deficiency
Severe combined immunodeficiency due to DCLRE1C deficiency		 Criteria Provided
Conflicting Classifications
 CA7043632 rs_763222026

2 SubmittersRCV001110223RCV001114248
NM_206937.2(LIG4):c.1239A>G (p.Glu413=) SNV
Germline		 Chr13:108210030 Conflicting classifications of pathogenicity DNA ligase IV deficiency
Severe combined immunodeficiency due to DCLRE1C deficiency		 Criteria Provided
Conflicting Classifications
 CA484975460 rs_1342090676

2 SubmittersRCV001110971RCV001110972
NM_206937.2(LIG4):c.713T>C (p.Ile238Thr) SNV
Germline		 Chr13:108210556 Conflicting classifications of pathogenicity DNA ligase IV deficiency
Severe combined immunodeficiency due to DCLRE1C deficiency		 Criteria Provided
Conflicting Classifications
 CA7043806 rs_201289944

2 SubmittersRCV001114332RCV001114333
NM_206937.2(LIG4):c.1288A>T (p.Met430Leu) SNV
Germline		 Chr13:108209981 Conflicting classifications of pathogenicity DNA ligase IV deficiency
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA7043714 rs_143618179

3 SubmittersRCV001221937RCV004792815
NM_206937.2(LIG4):c.1236T>A (p.Asn412Lys) SNV
Germline		 Chr13:108210033 Conflicting classifications of pathogenicity DNA ligase IV deficiency
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA7043727 rs_755358293

3 SubmittersRCV001240625RCV001507830RCV003317465
NM_206937.2(LIG4):c.832C>G (p.Arg278Gly) SNV
Germline		 Chr13:108210437 Pathogenic DNA ligase IV deficiency No Assertion Criteria Provided
 CA388619889 rs_574912936

1 SubmittersRCV001257441
NM_206937.2(LIG4):c.832C>T (p.Arg278Cys) SNV
Germline		 Chr13:108210437 Likely pathogenic DNA ligase IV deficiency Criteria Provided
Single Submitter
 CA7043793 rs_574912936

1 SubmittersRCV001297827
NM_206937.2(LIG4):c.2690C>G (p.Ser897Ter) SNV
Germline		 Chr13:108208579 Pathogenic DNA ligase IV deficiency Criteria Provided
Single Submitter
 CA7043443 rs_750080610

1 SubmittersRCV001320593
NM_206937.2(LIG4):c.1169G>A (p.Ser390Asn) SNV
Germline		 Chr13:108210100 Conflicting classifications of pathogenicity DNA ligase IV deficiency
Inborn genetic diseases
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA7043741 rs_35469724

3 SubmittersRCV001367545RCV002547871RCV002269367
NM_206937.2(LIG4):c.1282G>C (p.Gly428Arg) SNV
Unknown		 Chr13:108209987 Likely pathogenic DNA ligase IV deficiency Criteria Provided
Single Submitter
 CA388617902 rs_2138974645

1 SubmittersRCV001824262
NM_206937.2(LIG4):c.2094C>G (p.Tyr698Ter) SNV
Germline		 Chr13:108209175 Pathogenic/Likely pathogenic DNA ligase IV deficiency Criteria Provided
Multiple Submitters
No Conflicts
 CA7043559 rs_373938258

2 SubmittersRCV001844574
NM_206937.2(LIG4):c.32C>G (p.Ala11Gly) SNV
Germline		 Chr13:108211237 Conflicting classifications of pathogenicity DNA ligase IV deficiency
not specified		 Criteria Provided
Conflicting Classifications
 CA7043908 rs_778524098

2 SubmittersRCV002004714RCV004699580
NM_206937.2(LIG4):c.73C>T (p.Arg25Ter) SNV
Germline		 Chr13:108211196 Pathogenic DNA ligase IV deficiency Criteria Provided
Single Submitter
 CA7043897 rs_753883369

1 SubmittersRCV002002469
NM_206937.2(LIG4):c.743C>T (p.Pro248Leu) SNV
Germline		 Chr13:108210526 Likely pathogenic DNA ligase IV deficiency
Inborn genetic diseases		 Criteria Provided
Multiple Submitters
No Conflicts
 CA388620744 rs_2138978193

2 SubmittersRCV001880861RCV004041113
NM_206937.2(LIG4):c.68T>C (p.Leu23Ser) SNV
Germline		 Chr13:108211201 Likely pathogenic DNA ligase IV deficiency Criteria Provided
Single Submitter
 CA388624732 rs_1353165210

1 SubmittersRCV002285081
NM_206937.2(LIG4):c.845A>G (p.His282Arg) SNV
Germline		 Chr13:108210424 Likely pathogenic DNA ligase IV deficiency Criteria Provided
Single Submitter
 CA388619757 rs_777008519

1 SubmittersRCV003058425
NM_206937.2(LIG4):c.56T>G (p.Leu19Trp) SNV
Germline		 Chr13:108211213 Conflicting classifications of pathogenicity DNA ligase IV deficiency
not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA7043899 rs_765520147

3 SubmittersRCV002604251RCV004801229RCV005256870
NM_206937.2(LIG4):c.2317C>T (p.Gln773Ter) SNV
Germline		 Chr13:108208952 Pathogenic DNA ligase IV deficiency Criteria Provided
Single Submitter
 CA388613533 rs_1386691031

1 SubmittersRCV002770223
NM_206937.2(LIG4):c.1578G>A (p.Trp526Ter) SNV
Germline		 Chr13:108209691 Pathogenic DNA ligase IV deficiency Criteria Provided
Single Submitter
 CA388616789 rs_2501597863

1 SubmittersRCV003011582
NM_206937.2(LIG4):c.220C>T (p.Gln74Ter) SNV
Germline		 Chr13:108211049 Pathogenic/Likely pathogenic DNA ligase IV deficiency Criteria Provided
Multiple Submitters
No Conflicts
 CA388623981 rs_1566367610

2 SubmittersRCV003232906
NM_206937.2(LIG4):c.22C>T (p.Gln8Ter) SNV
Germline		 Chr13:108211247 Pathogenic DNA ligase IV deficiency Criteria Provided
Single Submitter
 CA388624845 rs_2501631607

1 SubmittersRCV003509855
NM_206937.2(LIG4):c.1621G>T (p.Gly541Ter) SNV
Germline		 Chr13:108209648 Pathogenic DNA ligase IV deficiency Criteria Provided
Single Submitter
 CA388616634 rs_2501597013

1 SubmittersRCV003510582
NM_206937.2(LIG4):c.1636G>T (p.Glu546Ter) SNV
Germline		 Chr13:108209633 Pathogenic DNA ligase IV deficiency Criteria Provided
Single Submitter
 CA388616599 rs_1304694234

1 SubmittersRCV003510532
NM_206937.2(LIG4):c.839A>G (p.Gln280Arg) SNV
Germline		 Chr13:108210430 Pathogenic DNA ligase IV deficiency Criteria Provided
Single Submitter
 CA388619805 rs_2501614620

1 SubmittersRCV003509001
NM_206937.2(LIG4):c.833G>T (p.Arg278Leu) SNV
Germline		 Chr13:108210436 Pathogenic DNA ligase IV deficiency
Severe combined immunodeficiency disease
DNA ligase IV deficiency
Multiple myeloma		 Criteria Provided
Multiple Submitters
No Conflicts
 CA388619863 rs_104894421

3 SubmittersRCV003509002RCV004690433RCV005013036
NM_206937.2(LIG4):c.833G>C (p.Arg278Pro) SNV
Germline		 Chr13:108210436 Likely pathogenic DNA ligase IV deficiency Criteria Provided
Single Submitter
 CA388619865 rs_104894421

1 SubmittersRCV003509003
NM_206937.2(LIG4):c.1870C>T (p.Gln624Ter) SNV
Germline		 Chr13:108209399 Pathogenic DNA ligase IV deficiency Criteria Provided
Single Submitter
 CA388615620 rs_1878332570

1 SubmittersRCV003511455
NM_206937.2(LIG4):c.536C>G (p.Ser179Ter) SNV
Germline		 Chr13:108210733 Pathogenic DNA ligase IV deficiency Criteria Provided
Single Submitter
 CA388621448 rs_2501621470

1 SubmittersRCV003509314
NM_206937.2(LIG4):c.832C>A (p.Arg278Ser) SNV
Germline		 Chr13:108210437 Conflicting classifications of pathogenicity DNA ligase IV deficiency
not specified		 Criteria Provided
Conflicting Classifications
 CA388619895 rs_574912936

2 SubmittersRCV003619967RCV005419665
NM_206937.2(LIG4):c.1561A>T (p.Lys521Ter) SNV
Germline		 Chr13:108209708 Pathogenic DNA ligase IV deficiency Criteria Provided
Single Submitter
 CA388616852 rs_2501598195

1 SubmittersRCV003620106
NM_206937.2(LIG4):c.877C>T (p.Arg293Ter) SNV
Germline		 Chr13:108210392 Pathogenic/Likely pathogenic DNA ligase IV deficiency
DNA ligase IV deficiency
Multiple myeloma		 Criteria Provided
Multiple Submitters
No Conflicts
 CA256182179 rs_948441067

2 SubmittersRCV003621332RCV005013102
NM_206937.2(LIG4):c.226G>T (p.Glu76Ter) SNV
Germline		 Chr13:108211043 Pathogenic DNA ligase IV deficiency Criteria Provided
Single Submitter
 CA388623957 rs_2501627619

1 SubmittersRCV003621261
NM_206937.2(LIG4):c.1798G>T (p.Glu600Ter) SNV
Germline		 Chr13:108209471 Pathogenic DNA ligase IV deficiency Criteria Provided
Single Submitter
 CA388615982 rs_61731910

1 SubmittersRCV003619347
NM_206937.2(LIG4):c.2269G>T (p.Glu757Ter) SNV
Germline		 Chr13:108209000 Pathogenic DNA ligase IV deficiency Criteria Provided
Single Submitter

1 SubmittersRCV005117810
NM_206937.2(LIG4):c.2359C>T (p.Gln787Ter) SNV
Germline		 Chr13:108208910 Pathogenic DNA ligase IV deficiency Criteria Provided
Single Submitter

1 SubmittersRCV005124288
NM_206937.2(LIG4):c.839A>C (p.Gln280Pro) SNV
Germline		 Chr13:108210430 Likely pathogenic DNA ligase IV deficiency Criteria Provided
Single Submitter

1 SubmittersRCV005132382
NM_206937.2(LIG4):c.2690C>A (p.Ser897Ter) SNV
Germline		 Chr13:108208579 Pathogenic DNA ligase IV deficiency Criteria Provided
Single Submitter

1 SubmittersRCV005152434
NM_206937.2(LIG4):c.367G>T (p.Gly123Ter) SNV
Germline		 Chr13:108210902 Likely pathogenic DNA ligase IV deficiency Criteria Provided
Single Submitter

1 SubmittersRCV005252468