LIG4[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 310947	NM_206937.2(LIG4):c.*1081C>T	LIG4	Single nucleotide variant (3 prime UTR variant)	DNA ligase IV deficiency +1 more	GBenign
Select item 310948	NM_206937.2(LIG4):c.*1035G>A	LIG4	Single nucleotide variant (3 prime UTR variant)	DNA ligase IV deficiency +2 more	GBenign
Select item 310949	NM_206937.2(LIG4):c.*983G>A	LIG4	Single nucleotide variant (3 prime UTR variant)	DNA ligase IV deficiency +1 more	GBenign
Select item 310950	NM_206937.2(LIG4):c.*906T>A	LIG4	Single nucleotide variant (3 prime UTR variant)	DNA ligase IV deficiency +1 more	GUncertain significance
Select item 881611	NM_206937.2(LIG4):c.*857T>C	LIG4	Single nucleotide variant (3 prime UTR variant)	DNA ligase IV deficiency +1 more	GUncertain significance
Select item 310951	NM_206937.2(LIG4):c.855_856insTTTT	LIG4	Insertion (3 prime UTR variant)	DNA ligase IV deficiency +1 more	GLikely benign
Select item 310952	NM_206937.2(LIG4):c.*826A>T	LIG4	Single nucleotide variant (3 prime UTR variant)	Severe combined immunodeficiency due to DCLRE1C deficiency +1 more	GBenign
Select item 882771	NM_206937.2(LIG4):c.*781A>G	LIG4	Single nucleotide variant (3 prime UTR variant)	Severe combined immunodeficiency due to DCLRE1C deficiency +1 more	GUncertain significance
Select item 310953	NM_206937.2(LIG4):c.*738G>A	LIG4	Single nucleotide variant (3 prime UTR variant)	DNA ligase IV deficiency +1 more	GUncertain significance
Select item 882772	NM_206937.2(LIG4):c.*736C>G	LIG4	Single nucleotide variant (3 prime UTR variant)	DNA ligase IV deficiency +1 more	GUncertain significance
Select item 882773	NM_206937.2(LIG4):c.*685T>C	LIG4	Single nucleotide variant (3 prime UTR variant)	DNA ligase IV deficiency +1 more	GBenign
Select item 310954	NM_206937.2(LIG4):c.*677A>G	LIG4	Single nucleotide variant (3 prime UTR variant)	DNA ligase IV deficiency +2 more	GBenign
Select item 310955	NM_206937.2(LIG4):c.*620AATTG[1]	LIG4	Microsatellite (3 prime UTR variant)	DNA ligase IV deficiency +1 more	GUncertain significance
Select item 310956	NM_206937.2(LIG4):c.*614A>C	LIG4	Single nucleotide variant (3 prime UTR variant)	DNA ligase IV deficiency +1 more	GLikely benign
Select item 310957	NM_206937.2(LIG4):c.599_602del	LIG4	Deletion (3 prime UTR variant)	DNA ligase IV deficiency +1 more	GLikely benign
Select item 310958	NM_206937.2(LIG4):c.562_563insAAT	LIG4	Insertion (3 prime UTR variant)	DNA ligase IV deficiency +1 more	GLikely benign
Select item 883558	NM_206937.2(LIG4):c.*525T>G	LIG4	Single nucleotide variant (3 prime UTR variant)	DNA ligase IV deficiency +1 more	GUncertain significance
Select item 310959	NM_206937.2(LIG4):c.*486A>G	LIG4	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GUncertain significance
Select item 310960	NM_206937.2(LIG4):c.*352A>C	LIG4	Single nucleotide variant (3 prime UTR variant)	DNA ligase IV deficiency +1 more	GUncertain significance
Select item 310961	NM_206937.2(LIG4):c.*306A>G	LIG4	Single nucleotide variant (3 prime UTR variant)	DNA ligase IV deficiency +1 more	GUncertain significance
Select item 881190	NM_206937.2(LIG4):c.*291A>G	LIG4	Single nucleotide variant (3 prime UTR variant)	DNA ligase IV deficiency +1 more	GUncertain significance
Select item 310962	NM_206937.2(LIG4):c.*285A>G	LIG4	Single nucleotide variant (3 prime UTR variant)	DNA ligase IV deficiency +1 more	GUncertain significance
Select item 310963	NM_206937.2(LIG4):c.*242A>G	LIG4	Single nucleotide variant (3 prime UTR variant)	DNA ligase IV deficiency +1 more	GUncertain significance
Select item 310964	NM_206937.2(LIG4):c.*204A>G	LIG4	Single nucleotide variant (3 prime UTR variant)	DNA ligase IV deficiency +2 more	GBenign
Select item 310965	NM_206937.2(LIG4):c.*166G>C	LIG4	Single nucleotide variant (3 prime UTR variant)	DNA ligase IV deficiency +1 more	GUncertain significance
Select item 310966	NM_206937.2(LIG4):c.*131A>T	LIG4	Single nucleotide variant (3 prime UTR variant)	DNA ligase IV deficiency +2 more	GBenign
Select item 310967	NM_206937.2(LIG4):c.*129A>G	LIG4	Single nucleotide variant (3 prime UTR variant)	Severe combined immunodeficiency due to DCLRE1C deficiency +2 more	GBenign
Select item 310968	NM_206937.2(LIG4):c.*104C>G	LIG4	Single nucleotide variant (3 prime UTR variant)	DNA ligase IV deficiency +2 more	GBenign/Likely benign
Select item 310969	NM_206937.2(LIG4):c.*56G>C	LIG4	Single nucleotide variant (3 prime UTR variant)	DNA ligase IV deficiency +1 more	GUncertain significance
Select item 310970	NM_206937.2(LIG4):c.*54G>A	LIG4	Single nucleotide variant (3 prime UTR variant)	DNA ligase IV deficiency +2 more	GBenign/Likely benign
Select item 310971	NM_206937.2(LIG4):c.*34T>G	LIG4	Single nucleotide variant (3 prime UTR variant)	Severe combined immunodeficiency due to DCLRE1C deficiency +1 more	GLikely benign
Select item 883601	NM_206937.2(LIG4):c.*26C>G	LIG4	Single nucleotide variant (3 prime UTR variant)	Severe combined immunodeficiency due to DCLRE1C deficiency +1 more	GUncertain significance
Select item 310972	NM_206937.2(LIG4):c.*26del	LIG4	Deletion (3 prime UTR variant)	DNA ligase IV deficiency +1 more	GUncertain significance
Select item 665646	NC_000013.11:g.(?_108208513)_(108211288_?)del	LIG4	Deletion	DNA ligase IV deficiency	GPathogenic
Select item 583960	NC_000013.10:g.(?_108860861)_(108863636_?)dup	LIG4	Duplication	DNA ligase IV deficiency	GUncertain significance
Select item 465278	NM_206937.2(LIG4):c.*3del	LIG4	Deletion (3 prime UTR variant)	DNA ligase IV deficiency +1 more	GBenign/Likely benign
Select item 2814771	NM_206937.2(LIG4):c.2736A>G (p.Ter912=)	LIG4	Single nucleotide variant (synonymous variant)	DNA ligase IV deficiency	GLikely benign
Select item 2793823	NM_206937.2(LIG4):c.2715A>G (p.Glu905=)	LIG4	Single nucleotide variant (synonymous variant)	DNA ligase IV deficiency	GLikely benign
Select item 2849717	NM_206937.2(LIG4):c.2703T>C (p.Cys901=)	LIG4	Single nucleotide variant (synonymous variant)	DNA ligase IV deficiency	GLikely benign
Select item 3003097	NM_206937.2(LIG4):c.2700G>A (p.Lys900=)	LIG4	Single nucleotide variant (synonymous variant)	DNA ligase IV deficiency	GLikely benign
Select item 2176012	NM_206937.2(LIG4):c.2698A>C (p.Lys900Gln)	LIG4 (K833Q +2 more)	Single nucleotide variant (missense variant)	DNA ligase IV deficiency	GUncertain significance
Select item 1020928	NM_206937.2(LIG4):c.2690C>G (p.Ser897Ter)	LIG4 (S830* +2 more)	Single nucleotide variant (nonsense)	DNA ligase IV deficiency	GPathogenic
Select item 2804368	NM_206937.2(LIG4):c.2676T>C (p.Ser892=)	LIG4	Single nucleotide variant (synonymous variant)	DNA ligase IV deficiency	GLikely benign
Select item 860567	NM_206937.2(LIG4):c.2675G>T (p.Ser892Ile)	LIG4 (S825I +2 more)	Single nucleotide variant (missense variant)	DNA ligase IV deficiency	GUncertain significance
Select item 1328695	NM_206937.2(LIG4):c.2672A>G (p.Glu891Gly)	LIG4 (E824G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2807475	NM_206937.2(LIG4):c.2667A>G (p.Leu889=)	LIG4	Single nucleotide variant (synonymous variant)	DNA ligase IV deficiency	GLikely benign
Select item 2063415	NM_206937.2(LIG4):c.2667A>C (p.Leu889=)	LIG4	Single nucleotide variant (synonymous variant)	DNA ligase IV deficiency	GLikely benign
Select item 1022060	NM_206937.2(LIG4):c.2662A>T (p.Ile888Phe)	LIG4 (I821F +2 more)	Single nucleotide variant (missense variant)	DNA ligase IV deficiency	GUncertain significance
Select item 640061	NM_206937.2(LIG4):c.2662A>C (p.Ile888Leu)	LIG4 (I888L +2 more)	Single nucleotide variant (missense variant)	DNA ligase IV deficiency +1 more	GUncertain significance
Select item 966313	NM_206937.2(LIG4):c.2659A>G (p.Lys887Glu)	LIG4 (K820E +2 more)	Single nucleotide variant (missense variant)	DNA ligase IV deficiency	GUncertain significance
Select item 642740	NM_206937.2(LIG4):c.2657T>A (p.Phe886Tyr)	LIG4 (F886Y +2 more)	Single nucleotide variant (missense variant)	DNA ligase IV deficiency	GUncertain significance
Select item 2134586	NM_206937.2(LIG4):c.2653_2654dup (p.Phe886fs)	LIG4 (F819fs +2 more)	Duplication (frameshift variant)	DNA ligase IV deficiency	GPathogenic
Select item 696647	NM_206937.2(LIG4):c.2655G>A (p.Lys885=)	LIG4	Single nucleotide variant (synonymous variant)	DNA ligase IV deficiency	GLikely benign
Select item 2825384	NM_206937.2(LIG4):c.2645_2646del (p.Thr881_Phe882insTer)	LIG4	Deletion (nonsense)	DNA ligase IV deficiency	GPathogenic
Select item 2151630	NM_206937.2(LIG4):c.2645T>C (p.Phe882Ser)	LIG4 (F882S +2 more)	Single nucleotide variant (missense variant)	DNA ligase IV deficiency	GUncertain significance
Select item 1555266	NM_206937.2(LIG4):c.2643T>C (p.Thr881=)	LIG4	Single nucleotide variant (synonymous variant)	DNA ligase IV deficiency	GLikely benign
Select item 640393	NM_206937.2(LIG4):c.2636GAA[1] (p.Arg880del)	LIG4 (R880del +2 more)	Microsatellite (inframe_deletion)	DNA ligase IV deficiency	GUncertain significance
Select item 1469932	NM_206937.2(LIG4):c.2618C>G (p.Ala873Gly)	LIG4 (A806G +2 more)	Single nucleotide variant (missense variant)	DNA ligase IV deficiency	GUncertain significance
Select item 2637605	NM_206937.2(LIG4):c.2612G>A (p.Arg871His)	LIG4 (R804H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1436663	NM_206937.2(LIG4):c.2611C>T (p.Arg871Cys)	LIG4 (R804C +2 more)	Single nucleotide variant (missense variant)	DNA ligase IV deficiency	GUncertain significance
Select item 2988967	NM_206937.2(LIG4):c.2610T>C (p.Ser870=)	LIG4	Single nucleotide variant (synonymous variant)	DNA ligase IV deficiency	GLikely benign
Select item 2115906	NM_206937.2(LIG4):c.2609G>A (p.Ser870Asn)	LIG4 (S882N +2 more)	Single nucleotide variant (missense variant)	DNA ligase IV deficiency	GUncertain significance
Select item 3290658	NM_206937.2(LIG4):c.2599G>A (p.Glu867Lys)	LIG4 (E867K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2164323	NM_206937.2(LIG4):c.2596G>A (p.Gly866Arg)	LIG4 (G799R +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2864073	NM_206937.2(LIG4):c.2595T>A (p.Ile865=)	LIG4	Single nucleotide variant (synonymous variant)	DNA ligase IV deficiency	GLikely benign
Select item 863425	NM_206937.2(LIG4):c.2595del (p.Ile865fs)	LIG4 (I798fs +2 more)	Deletion (frameshift variant)	DNA ligase IV deficiency	GPathogenic
Select item 452857	NM_206937.2(LIG4):c.2592_2595del (p.Ile864fs)	LIG4 (I864fs +2 more)	Deletion (frameshift variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3290659	NM_206937.2(LIG4):c.2594T>C (p.Ile865Thr)	LIG4 (I798T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1462728	NM_206937.2(LIG4):c.2592A>G (p.Ile864Met)	LIG4 (I797M +2 more)	Single nucleotide variant (missense variant)	DNA ligase IV deficiency	GUncertain significance
Select item 2753565	NM_206937.2(LIG4):c.2585_2586del (p.His862fs)	LIG4 (H795fs +2 more)	Deletion (frameshift variant)	DNA ligase IV deficiency	GPathogenic
Select item 941378	NM_206937.2(LIG4):c.2586T>A (p.His862Gln)	LIG4 (H862Q +2 more)	Single nucleotide variant (missense variant)	DNA ligase IV deficiency	GUncertain significance
Select item 418285	NM_206937.2(LIG4):c.2584C>T (p.His862Tyr)	LIG4 (H862Y +2 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 2725162	NM_206937.2(LIG4):c.2580G>A (p.Val860=)	LIG4	Single nucleotide variant (synonymous variant)	DNA ligase IV deficiency	GLikely benign
Select item 310973	NM_206937.2(LIG4):c.2569G>A (p.Ala857Thr)	LIG4 (A857T +2 more)	Single nucleotide variant (missense variant)	DNA ligase IV deficiency +2 more	GBenign
Select item 2979311	NM_206937.2(LIG4):c.2556A>G (p.Val852=)	LIG4	Single nucleotide variant (synonymous variant)	DNA ligase IV deficiency	GLikely benign
Select item 310974	NM_206937.2(LIG4):c.2549C>T (p.Ala850Val)	LIG4 (A850V +2 more)	Single nucleotide variant (missense variant)	DNA ligase IV deficiency +1 more	GUncertain significance
Select item 2007314	NM_206937.2(LIG4):c.2545G>A (p.Gly849Arg)	LIG4 (G782R +2 more)	Single nucleotide variant (missense variant)	DNA ligase IV deficiency	GUncertain significance
Select item 435751	NM_206937.2(LIG4):c.2543A>G (p.His848Arg)	LIG4 (H848R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2714537	NM_206937.2(LIG4):c.2541T>C (p.Phe847=)	LIG4	Single nucleotide variant (synonymous variant)	DNA ligase IV deficiency	GLikely benign
Select item 1434162	NM_206937.2(LIG4):c.2537G>A (p.Arg846Gln)	LIG4 (R846Q +2 more)	Single nucleotide variant (missense variant)	DNA ligase IV deficiency	GUncertain significance
Select item 2848851	NM_206937.2(LIG4):c.2529G>A (p.Leu843=)	LIG4	Single nucleotide variant (synonymous variant)	DNA ligase IV deficiency	GLikely benign
Select item 1902230	NM_206937.2(LIG4):c.2527T>C (p.Leu843=)	LIG4	Single nucleotide variant (synonymous variant)	DNA ligase IV deficiency	GLikely benign
Select item 310975	NM_206937.2(LIG4):c.2525C>A (p.Ala842Asp)	LIG4 (A842D +2 more)	Single nucleotide variant (missense variant)	Multiple myeloma +4 more	GConflicting classifications of pathogenicity
Select item 1494567	NM_206937.2(LIG4):c.2519T>C (p.Ile840Thr)	LIG4 (I852T +2 more)	Single nucleotide variant (missense variant)	DNA ligase IV deficiency	GUncertain significance
Select item 310976	NM_206937.2(LIG4):c.2518A>G (p.Ile840Val)	LIG4 (I840V +2 more)	Single nucleotide variant (missense variant)	DNA ligase IV deficiency +2 more	GLikely benign
Select item 2131782	NM_206937.2(LIG4):c.2517T>C (p.Ala839=)	LIG4	Single nucleotide variant (synonymous variant)	DNA ligase IV deficiency	GLikely benign
Select item 744983	NM_206937.2(LIG4):c.2511G>A (p.Arg837=)	LIG4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2828054	NM_206937.2(LIG4):c.2505G>A (p.Gly835=)	LIG4	Single nucleotide variant (synonymous variant)	DNA ligase IV deficiency	GLikely benign
Select item 310977	NM_206937.2(LIG4):c.2499T>C (p.Asn833=)	LIG4	Single nucleotide variant (synonymous variant)	DNA ligase IV deficiency +1 more	GConflicting classifications of pathogenicity
Select item 1522958	NM_206937.2(LIG4):c.2492C>A (p.Thr831Asn)	LIG4 (T843N +2 more)	Single nucleotide variant (missense variant)	DNA ligase IV deficiency	GUncertain significance
Select item 942881	NM_206937.2(LIG4):c.2486T>C (p.Leu829Pro)	LIG4 (L762P +2 more)	Single nucleotide variant (missense variant)	DNA ligase IV deficiency +1 more	GUncertain significance
Select item 581852	NM_206937.2(LIG4):c.2486T>G (p.Leu829Arg)	LIG4 (L829R +2 more)	Single nucleotide variant (missense variant)	DNA ligase IV deficiency	GUncertain significance
Select item 2714961	NM_206937.2(LIG4):c.2485C>T (p.Leu829=)	LIG4	Single nucleotide variant (synonymous variant)	DNA ligase IV deficiency	GLikely benign
Select item 2123653	NM_206937.2(LIG4):c.2482G>A (p.Asp828Asn)	LIG4 (D761N +2 more)	Single nucleotide variant (missense variant)	DNA ligase IV deficiency	GUncertain significance
Select item 968998	NM_206937.2(LIG4):c.2480A>G (p.Asn827Ser)	LIG4 (N827S +2 more)	Single nucleotide variant (missense variant)	DNA ligase IV deficiency	GUncertain significance
Select item 2056100	NM_206937.2(LIG4):c.2470G>T (p.Ala824Ser)	LIG4 (A836S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 835493	NM_206937.2(LIG4):c.2468A>G (p.Tyr823Cys)	LIG4 (Y823C +2 more)	Single nucleotide variant (missense variant)	DNA ligase IV deficiency	GUncertain significance
Select item 1047035	NM_206937.2(LIG4):c.2467T>C (p.Tyr823His)	LIG4 (Y756H +2 more)	Single nucleotide variant (missense variant)	DNA ligase IV deficiency	GUncertain significance
Select item 2717346	NM_206937.2(LIG4):c.2466G>T (p.Ser822=)	LIG4	Single nucleotide variant (synonymous variant)	DNA ligase IV deficiency	GLikely benign
Select item 1136285	NM_206937.2(LIG4):c.2466G>A (p.Ser822=)	LIG4	Single nucleotide variant (synonymous variant)	DNA ligase IV deficiency	GLikely benign

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