ClinVar for MedGen (Select 339855) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3023102	NM_206937.2(LIG4):c.1893C>T (p.Ala631=)	LIG4	Single nucleotide variant (synonymous variant)	DNA ligase IV deficiency	GLikely benign
Select item 3022322	NM_206937.2(LIG4):c.438G>A (p.Gln146=)	LIG4	Single nucleotide variant (synonymous variant)	DNA ligase IV deficiency	GLikely benign
Select item 3022321	NM_206937.2(LIG4):c.439del (p.Gln147fs)	LIG4 (Q147fs +2 more)	Deletion (frameshift variant)	DNA ligase IV deficiency	GPathogenic
Select item 3020681	NM_206937.2(LIG4):c.936C>T (p.Thr312=)	LIG4	Single nucleotide variant (synonymous variant)	DNA ligase IV deficiency	GLikely benign
Select item 3020377	NM_206937.2(LIG4):c.195T>C (p.Tyr65=)	LIG4	Single nucleotide variant (synonymous variant +1 more)	DNA ligase IV deficiency	GLikely benign
Select item 3019815	NM_206937.2(LIG4):c.1224T>C (p.Ala408=)	LIG4	Single nucleotide variant (synonymous variant)	DNA ligase IV deficiency	GLikely benign
Select item 3018381	NM_206937.2(LIG4):c.1911T>C (p.Val637=)	LIG4	Single nucleotide variant (synonymous variant)	DNA ligase IV deficiency	GLikely benign
Select item 3017065	NM_206937.2(LIG4):c.1108T>C (p.Leu370=)	LIG4	Single nucleotide variant (synonymous variant)	DNA ligase IV deficiency	GLikely benign
Select item 3016609	NM_206937.2(LIG4):c.2440C>A (p.Arg814=)	LIG4	Single nucleotide variant (synonymous variant)	DNA ligase IV deficiency	GLikely benign
Select item 3014534	NM_206937.2(LIG4):c.2334C>T (p.Phe778=)	LIG4	Single nucleotide variant (synonymous variant)	DNA ligase IV deficiency	GLikely benign
Select item 3013499	NM_206937.2(LIG4):c.93A>G (p.Gly31=)	LIG4	Single nucleotide variant (synonymous variant +1 more)	DNA ligase IV deficiency	GLikely benign
Select item 3007679	NM_206937.2(LIG4):c.1430del (p.Gly477fs)	LIG4 (G477fs +2 more)	Deletion (frameshift variant)	DNA ligase IV deficiency	GPathogenic
Select item 3007330	NM_206937.2(LIG4):c.2172A>G (p.Ala724=)	LIG4	Single nucleotide variant (synonymous variant)	DNA ligase IV deficiency	GLikely benign
Select item 3006698	NM_206937.2(LIG4):c.861A>G (p.Val287=)	LIG4	Single nucleotide variant (synonymous variant)	DNA ligase IV deficiency	GLikely benign
Select item 3003951	NM_206937.2(LIG4):c.1269T>C (p.Asp423=)	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 2999463	NM_206937.2(LIG4):c.1245T>A (p.Ile415=)	LIG4	Single nucleotide variant (synonymous variant)	DNA ligase IV deficiency	GLikely benign
Select item 2995852	NM_206937.2(LIG4):c.1314C>T (p.Tyr438=)	LIG4	Single nucleotide variant (synonymous variant)	DNA ligase IV deficiency	GLikely benign
Select item 2992025	NM_206937.2(LIG4):c.2166G>A (p.Lys722=)	LIG4	Single nucleotide variant (synonymous variant)	DNA ligase IV deficiency	GLikely benign
Select item 2990504	NM_206937.2(LIG4):c.717T>C (p.Ser239=)	LIG4	Single nucleotide variant (synonymous variant)	DNA ligase IV deficiency	GLikely benign
Select item 2989863	NM_206937.2(LIG4):c.773A>G (p.His258Arg)	LIG4 (H191R +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 2987000	NM_206937.2(LIG4):c.237A>G (p.Arg79=)	LIG4	Single nucleotide variant (synonymous variant)	DNA ligase IV deficiency	GLikely benign
Select item 2985444	NM_206937.2(LIG4):c.243C>T (p.Ala81=)	LIG4	Single nucleotide variant (synonymous variant)	DNA ligase IV deficiency	GLikely benign
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 2973182	NM_206937.2(LIG4):c.1005T>C (p.Tyr335=)	LIG4	Single nucleotide variant (synonymous variant)	DNA ligase IV deficiency	GLikely benign
Select item 2969569	NM_206937.2(LIG4):c.2028T>C (p.Pro676=)	LIG4	Single nucleotide variant (synonymous variant)	DNA ligase IV deficiency	GLikely benign
Select item 2960400	NM_206937.2(LIG4):c.1589A>G (p.His530Arg)	LIG4 (H463R +2 more)	Single nucleotide variant (missense variant)	DNA ligase IV deficiency	GLikely benign
Select item 2960210	NM_206937.2(LIG4):c.150T>C (p.His50=)	LIG4	Single nucleotide variant (synonymous variant +1 more)	DNA ligase IV deficiency	GLikely benign
Select item 2957708	NM_206937.2(LIG4):c.480T>A (p.Ser160=)	LIG4	Single nucleotide variant (synonymous variant)	DNA ligase IV deficiency	GLikely benign
Select item 2955914	NM_206937.2(LIG4):c.2388T>C (p.Ile796=)	LIG4	Single nucleotide variant (synonymous variant)	DNA ligase IV deficiency	GLikely benign
Select item 2954918	NM_206937.2(LIG4):c.483T>G (p.Ala161=)	LIG4	Single nucleotide variant (synonymous variant)	DNA ligase IV deficiency	GLikely benign
Select item 2917039	NM_206937.2(LIG4):c.1920T>C (p.Ile640=)	LIG4	Single nucleotide variant (synonymous variant)	DNA ligase IV deficiency	GLikely benign
Select item 2915649	NM_206937.2(LIG4):c.1245T>C (p.Ile415=)	LIG4	Single nucleotide variant (synonymous variant)	DNA ligase IV deficiency	GLikely benign
Select item 2909042	NM_206937.2(LIG4):c.1107A>T (p.Val369=)	LIG4	Single nucleotide variant (synonymous variant)	DNA ligase IV deficiency	GLikely benign
Select item 2907200	NM_206937.2(LIG4):c.1992T>C (p.Phe664=)	LIG4	Single nucleotide variant (synonymous variant)	DNA ligase IV deficiency +1 more	GLikely benign
Select item 2906326	NM_206937.2(LIG4):c.1191A>G (p.Pro397=)	LIG4	Single nucleotide variant (synonymous variant)	DNA ligase IV deficiency	GLikely benign
Select item 2903860	NM_206937.2(LIG4):c.2326del (p.Glu776fs)	LIG4 (E709fs +2 more)	Deletion (frameshift variant)	DNA ligase IV deficiency	GPathogenic
Select item 2903478	NM_206937.2(LIG4):c.663G>A (p.Leu221=)	LIG4	Single nucleotide variant (synonymous variant)	DNA ligase IV deficiency +1 more	GLikely benign
Select item 2900798	NM_206937.2(LIG4):c.1305A>G (p.Leu435=)	LIG4	Single nucleotide variant (synonymous variant)	DNA ligase IV deficiency	GLikely benign
Select item 2897639	NM_206937.2(LIG4):c.741A>G (p.Lys247=)	LIG4	Single nucleotide variant (synonymous variant)	DNA ligase IV deficiency	GLikely benign
Select item 2896057	NM_206937.2(LIG4):c.1583del (p.Pro528fs)	LIG4 (P528fs +2 more)	Deletion (frameshift variant)	DNA ligase IV deficiency	GPathogenic
Select item 2881650	NM_206937.2(LIG4):c.771G>A (p.Glu257=)	LIG4	Single nucleotide variant (synonymous variant)	DNA ligase IV deficiency	GLikely benign
Select item 2880594	NM_206937.2(LIG4):c.1869A>G (p.Pro623=)	LIG4	Single nucleotide variant (synonymous variant)	DNA ligase IV deficiency	GLikely benign
Select item 2880465	NM_206937.2(LIG4):c.1878_1880del (p.Lys627del)	LIG4 (K560del +2 more)	Deletion (inframe_deletion)	DNA ligase IV deficiency	GUncertain significance
Select item 2877148	NM_206937.2(LIG4):c.1326A>G (p.Lys442=)	LIG4	Single nucleotide variant (synonymous variant)	DNA ligase IV deficiency	GLikely benign
Select item 2875382	NM_206937.2(LIG4):c.1798G>T (p.Glu600Ter)	LIG4 (E600* +2 more)	Single nucleotide variant (nonsense)	DNA ligase IV deficiency	GPathogenic
Select item 2872841	NM_206937.2(LIG4):c.1482T>C (p.Gly494=)	LIG4	Single nucleotide variant (synonymous variant)	DNA ligase IV deficiency	GLikely benign
Select item 2872071	NM_206937.2(LIG4):c.510C>T (p.Ser170=)	LIG4	Single nucleotide variant (synonymous variant)	DNA ligase IV deficiency	GLikely benign
Select item 2866782	NM_206937.2(LIG4):c.2295T>C (p.Tyr765=)	LIG4	Single nucleotide variant (synonymous variant)	DNA ligase IV deficiency	GLikely benign
Select item 2865789	NM_206937.2(LIG4):c.1392T>A (p.Ile464=)	LIG4	Single nucleotide variant (synonymous variant)	DNA ligase IV deficiency	GLikely benign
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 2861651	NM_206937.2(LIG4):c.708T>C (p.Ser236=)	LIG4	Single nucleotide variant (synonymous variant)	DNA ligase IV deficiency	GLikely benign
Select item 2861623	NM_206937.2(LIG4):c.1384T>C (p.Leu462=)	LIG4	Single nucleotide variant (synonymous variant)	DNA ligase IV deficiency	GLikely benign
Select item 2860555	NM_206937.2(LIG4):c.1095T>C (p.Cys365=)	LIG4	Single nucleotide variant (synonymous variant)	DNA ligase IV deficiency	GLikely benign
Select item 2859019	NM_206937.2(LIG4):c.1026del (p.Phe342fs)	LIG4 (F354fs +2 more)	Deletion (frameshift variant)	DNA ligase IV deficiency	GPathogenic
Select item 2857575	NM_206937.2(LIG4):c.1545G>C (p.Leu515=)	LIG4	Single nucleotide variant (synonymous variant)	DNA ligase IV deficiency	GLikely benign
Select item 2856074	NM_206937.2(LIG4):c.672C>T (p.Val224=)	LIG4	Single nucleotide variant (synonymous variant)	DNA ligase IV deficiency	GLikely benign
Select item 2855847	NM_206937.2(LIG4):c.1809G>A (p.Arg603=)	LIG4	Single nucleotide variant (synonymous variant)	DNA ligase IV deficiency	GLikely benign
Select item 2854221	NM_206937.2(LIG4):c.2283T>C (p.Tyr761=)	LIG4	Single nucleotide variant (synonymous variant)	DNA ligase IV deficiency	GLikely benign
Select item 2852759	NM_206937.2(LIG4):c.877C>T (p.Arg293Ter)	LIG4 (R226* +2 more)	Single nucleotide variant (nonsense)	DNA ligase IV deficiency	GPathogenic
Select item 2852120	NM_206937.2(LIG4):c.2172A>C (p.Ala724=)	LIG4	Single nucleotide variant (synonymous variant)	DNA ligase IV deficiency	GLikely benign
Select item 2851204	NM_206937.2(LIG4):c.1748del (p.Lys583fs)	LIG4 (K595fs +2 more)	Deletion (frameshift variant)	DNA ligase IV deficiency	GPathogenic
Select item 2849907	NM_206937.2(LIG4):c.2427dup (p.Leu810fs)	LIG4 (L810fs +2 more)	Duplication (frameshift variant)	DNA ligase IV deficiency	GPathogenic
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 2848851	NM_206937.2(LIG4):c.2529G>A (p.Leu843=)	LIG4	Single nucleotide variant (synonymous variant)	DNA ligase IV deficiency	GLikely benign
Select item 2848437	NM_206937.2(LIG4):c.226G>T (p.Glu76Ter)	LIG4 (E76* +2 more)	Single nucleotide variant (nonsense)	DNA ligase IV deficiency	GPathogenic
Select item 2847364	NM_206937.2(LIG4):c.2412C>T (p.Ser804=)	LIG4	Single nucleotide variant (synonymous variant)	DNA ligase IV deficiency	GLikely benign
Select item 2842868	NM_206937.2(LIG4):c.2316_2332del (p.Gln773fs)	LIG4 (Q773fs +2 more)	Deletion (frameshift variant)	DNA ligase IV deficiency	GPathogenic
Select item 2841733	NM_206937.2(LIG4):c.612T>C (p.Phe204=)	LIG4	Single nucleotide variant (synonymous variant)	DNA ligase IV deficiency	GLikely benign
Select item 2841622	NM_206937.2(LIG4):c.2426_2430del (p.Pro809fs)	LIG4 (P742fs +2 more)	Microsatellite (frameshift variant)	DNA ligase IV deficiency	GPathogenic
Select item 2841586	NM_206937.2(LIG4):c.2031C>T (p.Asp677=)	LIG4	Single nucleotide variant (synonymous variant)	DNA ligase IV deficiency	GLikely benign
Select item 2841573	NM_206937.2(LIG4):c.684G>A (p.Leu228=)	LIG4	Single nucleotide variant (synonymous variant)	DNA ligase IV deficiency	GLikely benign
Select item 2839656	NM_206937.2(LIG4):c.1380T>A (p.Asp460Glu)	LIG4 (D472E +2 more)	Single nucleotide variant (missense variant)	DNA ligase IV deficiency	GUncertain significance
Select item 2838741	NM_206937.2(LIG4):c.1122T>C (p.Asn374=)	LIG4	Single nucleotide variant (synonymous variant)	DNA ligase IV deficiency	GLikely benign
Select item 2837748	NM_206937.2(LIG4):c.840A>G (p.Gln280=)	LIG4	Single nucleotide variant (synonymous variant)	DNA ligase IV deficiency	GLikely benign
Select item 2834761	NM_206937.2(LIG4):c.2427T>A (p.Pro809=)	LIG4	Single nucleotide variant (synonymous variant)	DNA ligase IV deficiency	GLikely benign
Select item 2833945	NM_206937.2(LIG4):c.2049A>C (p.Ala683=)	LIG4	Single nucleotide variant (synonymous variant)	DNA ligase IV deficiency	GLikely benign
Select item 2832269	NM_206937.2(LIG4):c.1928del (p.His643fs)	LIG4 (H643fs +2 more)	Deletion (frameshift variant)	DNA ligase IV deficiency	GPathogenic
Select item 2831186	NM_206937.2(LIG4):c.1243_1244del (p.Val414_Ile415insTer)	LIG4	Deletion (nonsense)	DNA ligase IV deficiency	GPathogenic
Select item 2830712	NM_206937.2(LIG4):c.2320C>T (p.Leu774=)	LIG4	Single nucleotide variant (synonymous variant)	DNA ligase IV deficiency	GLikely benign
Select item 2830466	NM_206937.2(LIG4):c.1973del (p.Ile658fs)	LIG4 (I658fs +2 more)	Deletion (frameshift variant)	DNA ligase IV deficiency	GPathogenic
Select item 2829581	NM_206937.2(LIG4):c.506A>T (p.Lys169Met)	LIG4 (K102M +2 more)	Single nucleotide variant (missense variant)	DNA ligase IV deficiency	GUncertain significance
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 2825632	NM_206937.2(LIG4):c.1575T>C (p.Tyr525=)	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 2823124	NM_206937.2(LIG4):c.1842C>T (p.His614=)	LIG4	Single nucleotide variant (synonymous variant)	DNA ligase IV deficiency	GLikely benign
Select item 2822914	NM_206937.2(LIG4):c.1767G>A (p.Glu589=)	LIG4	Single nucleotide variant (synonymous variant)	DNA ligase IV deficiency	GLikely benign
Select item 2820419	NM_206937.2(LIG4):c.1643A>G (p.Tyr548Cys)	LIG4 (Y560C +2 more)	Single nucleotide variant (missense variant)	DNA ligase IV deficiency	GUncertain significance
Select item 2817456	NM_206937.2(LIG4):c.1289dup (p.Met430fs)	LIG4 (M363fs +2 more)	Duplication (frameshift variant)	DNA ligase IV deficiency	GPathogenic
Select item 2816407	NM_206937.2(LIG4):c.399G>A (p.Leu133=)	LIG4	Single nucleotide variant (synonymous variant)	DNA ligase IV deficiency	GLikely 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 2811888	NM_206937.2(LIG4):c.2118C>T (p.Asn706=)	LIG4	Single nucleotide variant (synonymous variant)	DNA ligase IV deficiency	GLikely benign
Select item 2810446	NM_206937.2(LIG4):c.2250C>G (p.Thr750=)	LIG4	Single nucleotide variant (synonymous variant)	DNA ligase IV deficiency	GLikely benign
Select item 2809640	NM_206937.2(LIG4):c.1270_1273del (p.Lys424fs)	LIG4 (K357fs +2 more)	Deletion (frameshift variant)	DNA ligase IV deficiency	GPathogenic
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 2804368	NM_206937.2(LIG4):c.2676T>C (p.Ser892=)	LIG4	Single nucleotide variant (synonymous variant)	DNA ligase IV deficiency	GLikely benign
Select item 2802597	NM_206937.2(LIG4):c.1605A>G (p.Pro535=)	LIG4	Single nucleotide variant (synonymous variant)	DNA ligase IV deficiency	GLikely benign
Select item 2796524	NM_206937.2(LIG4):c.939A>G (p.Pro313=)	LIG4	Single nucleotide variant (synonymous variant)	DNA ligase IV deficiency	GLikely benign
Select item 2795308	NM_206937.2(LIG4):c.819G>A (p.Lys273=)	LIG4	Single nucleotide variant (synonymous variant)	DNA ligase IV deficiency	GLikely benign

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