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 DNA ligase IV deficiency Multiple myeloma	Criteria Provided Multiple Submitters No Conflicts	CA118972	rs_104894418	4 SubmittersRCV000008111 RCV001092918 RCV005007834
NM_206937.2(LIG4):c.2440C>T (p.Arg814Ter)	SNV Germline	Chr13:108208829	Pathogenic/Likely pathogenic	DNA ligase IV deficiency Inborn genetic diseases Condition: not provided 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 SubmittersRCV000008112 RCV000623453 RCV000399723 RCV000763320 RCV003483426 RCV004532308
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 SubmittersRCV000008114 RCV001092919 RCV005417421
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 SubmittersRCV000195272 RCV000732275 RCV001082219 RCV004541244
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 SubmittersRCV000279874 RCV000372014
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 SubmittersRCV000285774 RCV000343104
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 SubmittersRCV000290093 RCV000347931 RCV002520853
NM_206937.2(LIG4):c.2525C>A (p.Ala842Asp)	SNV Germline	Chr13:108208744	Conflicting classifications of pathogenicity	DNA ligase IV deficiency Severe combined immunodeficiency due to DCLRE1C deficiency Multiple myeloma DNA ligase IV deficiency Condition: not provided not specified LIG4-related disorder	Criteria Provided Conflicting Classifications	CA7043477	rs_72660870	8 SubmittersRCV000272998 RCV000383863 RCV000763874 RCV000857399 RCV001820917 RCV004537756
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 Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA7043543	rs_143767581	4 SubmittersRCV000337673 RCV000393674 RCV002520851 RCV003238753
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 not specified	Criteria Provided Conflicting Classifications	CA7043571	rs_199638675	4 SubmittersRCV000312009 RCV000350550 RCV003884460 RCV006458235
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 SubmittersRCV000315847 RCV000378553
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 SubmittersRCV000302024 RCV000359181 RCV000481605 RCV002520852
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 SubmittersRCV000318407 RCV000356462 RCV004732844
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 SubmittersRCV000338575 RCV000386052
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 SubmittersRCV000497617 RCV001219812 RCV005010417
NM_206937.2(LIG4):c.2465C>T (p.Ser822Leu)	SNV Germline	Chr13:108208804	Conflicting classifications of pathogenicity	not specified DNA ligase IV deficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA7043490	rs_141441003	5 SubmittersRCV000503887 RCV000702296 RCV004691807
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 SubmittersRCV000503379 RCV000641093 RCV001111061 RCV001575568
NM_206937.2(LIG4):c.2146A>G (p.Asn716Asp)	SNV Germline	Chr13:108209123	Conflicting classifications of pathogenicity	DNA ligase IV deficiency Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7043555	rs_377032117	2 SubmittersRCV000695761 RCV005659956
NM_206937.2(LIG4):c.1103A>T (p.Asp368Val)	SNV Germline	Chr13:108210166	Conflicting classifications of pathogenicity	Condition: not provided DNA ligase IV deficiency not specified	Criteria Provided Conflicting Classifications	CA388618366	rs_1220876973	3 SubmittersRCV000788185 RCV003619721 RCV005432421
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 SubmittersRCV000823935 RCV003224478
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 SubmittersRCV001027792 RCV003224505
NM_206937.2(LIG4):c.2300T>C (p.Ile767Thr)	SNV Germline	Chr13:108208969	Conflicting classifications of pathogenicity	DNA ligase IV deficiency Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7043529	rs_750390328	2 SubmittersRCV001051850 RCV006367592
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 SubmittersRCV001048790 RCV002240198
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 SubmittersRCV001035435 RCV002481849 RCV003151267
NM_206937.2(LIG4):c.1971T>C (p.Asn657=)	SNV Germline	Chr13:108209298	Conflicting classifications of pathogenicity	DNA ligase IV deficiency Severe combined immunodeficiency due to DCLRE1C deficiency	Criteria Provided Conflicting Classifications	CA7043574	rs_764483419	2 SubmittersRCV001112886 RCV001112887
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 SubmittersRCV001114245 RCV001114246
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 SubmittersRCV001110223 RCV001114248
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 SubmittersRCV001110971 RCV001110972
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 SubmittersRCV001114332 RCV001114333
NM_206937.2(LIG4):c.1288A>T (p.Met430Leu)	SNV Germline	Chr13:108209981	Conflicting classifications of pathogenicity	DNA ligase IV deficiency Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA7043714	rs_143618179	4 SubmittersRCV001221937 RCV004792815 RCV006455533
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 SubmittersRCV001240625 RCV001507830 RCV003317465
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 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7043741	rs_35469724	3 SubmittersRCV001367545 RCV002269367 RCV002547871
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 SubmittersRCV002004714 RCV004699580
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 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA388620744	rs_2138978193	3 SubmittersRCV001880861 RCV004041113 RCV005638598
NM_206937.2(LIG4):c.68T>C (p.Leu23Ser)	SNV Germline	Chr13:108211201	Conflicting classifications of pathogenicity	DNA ligase IV deficiency not specified	Criteria Provided Conflicting Classifications	CA388624732	rs_1353165210	2 SubmittersRCV002285081 RCV006262407
NM_206937.2(LIG4):c.845A>G (p.His282Arg)	SNV Germline	Chr13:108210424	Likely pathogenic	DNA ligase IV deficiency	Criteria Provided Multiple Submitters No Conflicts	CA388619757	rs_777008519	2 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 SubmittersRCV002604251 RCV004801229 RCV005256870
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 Multiple myeloma DNA ligase IV deficiency Severe combined immunodeficiency disease	Criteria Provided Multiple Submitters No Conflicts	CA388619863	rs_104894421	3 SubmittersRCV003509002 RCV005013036 RCV004690433
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 SubmittersRCV003619967 RCV005419665
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 SubmittersRCV003621332 RCV005013102
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
NM_206937.2(LIG4):c.823G>C (p.Asp275His)	SNV Germline	Chr13:108210446	Conflicting classifications of pathogenicity	DNA ligase IV deficiency	Criteria Provided Conflicting Classifications			2 SubmittersRCV005864106
NM_206937.2(LIG4):c.138G>A (p.Trp46Ter)	SNV Germline	Chr13:108211131	Pathogenic	DNA ligase IV deficiency	Criteria Provided Single Submitter			1 SubmittersRCV006494571

NM_206937.2(LIG4):c.1738C>T (p.Arg580Ter)

SNV
Germline

Chr13:108209531

Pathogenic/Likely pathogenic

DNA ligase IV deficiency
Condition: not provided
DNA ligase IV deficiency
Multiple myeloma

Criteria Provided
Multiple Submitters
No Conflicts

CA118972

rs_104894418

4 SubmittersRCV000008111 RCV001092918 RCV005007834

NM_206937.2(LIG4):c.2440C>T (p.Arg814Ter)

SNV
Germline

Chr13:108208829

Pathogenic/Likely pathogenic

DNA ligase IV deficiency
Inborn genetic diseases
Condition: not provided
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 SubmittersRCV000008112 RCV000623453 RCV000399723 RCV000763320 RCV003483426 RCV004532308

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 SubmittersRCV000008114 RCV001092919 RCV005417421

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 SubmittersRCV000195272 RCV000732275 RCV001082219 RCV004541244

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 SubmittersRCV000279874 RCV000372014

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 SubmittersRCV000285774 RCV000343104

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 SubmittersRCV000290093 RCV000347931 RCV002520853

NM_206937.2(LIG4):c.2525C>A (p.Ala842Asp)

SNV
Germline

Chr13:108208744

Conflicting classifications of pathogenicity

DNA ligase IV deficiency
Severe combined immunodeficiency due to DCLRE1C deficiency
Multiple myeloma
DNA ligase IV deficiency
Condition: not provided
not specified
LIG4-related disorder

Criteria Provided
Conflicting Classifications

CA7043477

rs_72660870

8 SubmittersRCV000272998 RCV000383863 RCV000763874 RCV000857399 RCV001820917 RCV004537756

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
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7043543

rs_143767581

4 SubmittersRCV000337673 RCV000393674 RCV002520851 RCV003238753

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
not specified

Criteria Provided
Conflicting Classifications

CA7043571

rs_199638675

4 SubmittersRCV000312009 RCV000350550 RCV003884460 RCV006458235

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 SubmittersRCV000315847 RCV000378553

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 SubmittersRCV000302024 RCV000359181 RCV000481605 RCV002520852

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 SubmittersRCV000318407 RCV000356462 RCV004732844

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 SubmittersRCV000338575 RCV000386052

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 SubmittersRCV000497617 RCV001219812 RCV005010417

NM_206937.2(LIG4):c.2465C>T (p.Ser822Leu)

SNV
Germline

Chr13:108208804

Conflicting classifications of pathogenicity

not specified
DNA ligase IV deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7043490

rs_141441003

5 SubmittersRCV000503887 RCV000702296 RCV004691807

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 SubmittersRCV000503379 RCV000641093 RCV001111061 RCV001575568

NM_206937.2(LIG4):c.2146A>G (p.Asn716Asp)

SNV
Germline

Chr13:108209123

Conflicting classifications of pathogenicity

DNA ligase IV deficiency
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7043555

rs_377032117

2 SubmittersRCV000695761 RCV005659956

NM_206937.2(LIG4):c.1103A>T (p.Asp368Val)

SNV
Germline

Chr13:108210166

Conflicting classifications of pathogenicity

Condition: not provided
DNA ligase IV deficiency
not specified

Criteria Provided
Conflicting Classifications

CA388618366

rs_1220876973

3 SubmittersRCV000788185 RCV003619721 RCV005432421

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 SubmittersRCV000823935 RCV003224478

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 SubmittersRCV001027792 RCV003224505

NM_206937.2(LIG4):c.2300T>C (p.Ile767Thr)

SNV
Germline

Chr13:108208969

Conflicting classifications of pathogenicity

DNA ligase IV deficiency
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7043529

rs_750390328

2 SubmittersRCV001051850 RCV006367592

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 SubmittersRCV001048790 RCV002240198

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 SubmittersRCV001035435 RCV002481849 RCV003151267

NM_206937.2(LIG4):c.1971T>C (p.Asn657=)

SNV
Germline

Chr13:108209298

Conflicting classifications of pathogenicity

DNA ligase IV deficiency
Severe combined immunodeficiency due to DCLRE1C deficiency

Criteria Provided
Conflicting Classifications

CA7043574

rs_764483419

2 SubmittersRCV001112886 RCV001112887

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 SubmittersRCV001114245 RCV001114246

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 SubmittersRCV001110223 RCV001114248

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 SubmittersRCV001110971 RCV001110972

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 SubmittersRCV001114332 RCV001114333

NM_206937.2(LIG4):c.1288A>T (p.Met430Leu)

SNV
Germline

Chr13:108209981

Conflicting classifications of pathogenicity

DNA ligase IV deficiency
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA7043714

rs_143618179

4 SubmittersRCV001221937 RCV004792815 RCV006455533

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 SubmittersRCV001240625 RCV001507830 RCV003317465

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
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7043741

rs_35469724

3 SubmittersRCV001367545 RCV002269367 RCV002547871

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 SubmittersRCV002004714 RCV004699580

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
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA388620744

rs_2138978193

3 SubmittersRCV001880861 RCV004041113 RCV005638598

NM_206937.2(LIG4):c.68T>C (p.Leu23Ser)

SNV
Germline

Chr13:108211201

Conflicting classifications of pathogenicity

DNA ligase IV deficiency
not specified

Criteria Provided
Conflicting Classifications

CA388624732

rs_1353165210

2 SubmittersRCV002285081 RCV006262407

NM_206937.2(LIG4):c.845A>G (p.His282Arg)

SNV
Germline

Chr13:108210424

Likely pathogenic

DNA ligase IV deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA388619757

rs_777008519

2 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 SubmittersRCV002604251 RCV004801229 RCV005256870

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
Multiple myeloma
DNA ligase IV deficiency
Severe combined immunodeficiency disease

Criteria Provided
Multiple Submitters
No Conflicts

CA388619863

rs_104894421

3 SubmittersRCV003509002 RCV005013036 RCV004690433

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 SubmittersRCV003619967 RCV005419665

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 SubmittersRCV003621332 RCV005013102

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

NM_206937.2(LIG4):c.823G>C (p.Asp275His)

SNV
Germline

Chr13:108210446

Conflicting classifications of pathogenicity

DNA ligase IV deficiency

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005864106

NM_206937.2(LIG4):c.138G>A (p.Trp46Ter)

SNV
Germline

Chr13:108211131

Pathogenic

DNA ligase IV deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV006494571