C1847827[trait identifier] AND "Labcorp Genetics (formerly Invitae), L - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 +1 more	GPathogenic/Likely pathogenic
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 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)	not provided +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 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)	not provided +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)	not specified +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 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)	not provided +1 more	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
Select item 1926441	NM_206937.2(LIG4):c.2465C>G (p.Ser822Trp)	LIG4 (S834W +2 more)	Single nucleotide variant (missense variant)	DNA ligase IV deficiency	GUncertain significance
Select item 435752	NM_206937.2(LIG4):c.2465C>T (p.Ser822Leu)	LIG4 (S822L +2 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 1897733	NM_206937.2(LIG4):c.2462A>G (p.Asp821Gly)	LIG4 (D821G +2 more)	Single nucleotide variant (missense variant)	DNA ligase IV deficiency +1 more	GUncertain significance
Select item 1586444	NM_206937.2(LIG4):c.2451C>T (p.Thr817=)	LIG4	Single nucleotide variant (synonymous variant)	DNA ligase IV deficiency	GLikely benign
Select item 2151954	NM_206937.2(LIG4):c.2449A>G (p.Thr817Ala)	LIG4 (T750A +2 more)	Single nucleotide variant (missense variant)	DNA ligase IV deficiency	GUncertain significance
Select item 1589464	NM_206937.2(LIG4):c.2448C>T (p.His816=)	LIG4	Single nucleotide variant (synonymous variant)	DNA ligase IV deficiency	GLikely benign
Select item 1627093	NM_206937.2(LIG4):c.2445C>A (p.Arg815=)	LIG4	Single nucleotide variant (synonymous variant)	DNA ligase IV deficiency	GLikely benign
Select item 1519395	NM_206937.2(LIG4):c.2444G>T (p.Arg815Leu)	LIG4 (R748L +2 more)	Single nucleotide variant (missense variant)	DNA ligase IV deficiency	GUncertain significance
Select item 1060361	NM_206937.2(LIG4):c.2443C>T (p.Arg815Cys)	LIG4 (R748C +2 more)	Single nucleotide variant (missense variant)	DNA ligase IV deficiency +1 more	GUncertain significance
Select item 1925034	NM_206937.2(LIG4):c.2441G>T (p.Arg814Leu)	LIG4 (R826L +2 more)	Single nucleotide variant (missense variant)	DNA ligase IV deficiency	GUncertain significance
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 7673	NM_206937.2(LIG4):c.2440C>T (p.Arg814Ter)	LIG4 (R814* +2 more)	Single nucleotide variant (nonsense)	prenatal LIG4 syndrome with aqueductal stenosis +4 more	GPathogenic/Likely pathogenic
Select item 881240	NM_206937.2(LIG4):c.2435T>G (p.Met812Arg)	LIG4 (M812R +2 more)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to DCLRE1C deficiency +1 more	GUncertain significance
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 2787143	NM_206937.2(LIG4):c.2430C>T (p.Leu810=)	LIG4	Single nucleotide variant (synonymous variant)	DNA ligase IV deficiency	GLikely benign
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 2834761	NM_206937.2(LIG4):c.2427T>A (p.Pro809=)	LIG4	Single nucleotide variant (synonymous variant)	DNA ligase IV deficiency	GLikely benign
Select item 2002360	NM_206937.2(LIG4):c.2426C>T (p.Pro809Leu)	LIG4 (P809L +2 more)	Single nucleotide variant (missense variant)	DNA ligase IV deficiency	GUncertain significance
Select item 647972	NM_206937.2(LIG4):c.2425C>G (p.Pro809Ala)	LIG4 (P742A +2 more)	Single nucleotide variant (missense variant)	DNA ligase IV deficiency +3 more	GUncertain significance
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 2702543	NM_206937.2(LIG4):c.2409T>C (p.Tyr803=)	LIG4	Single nucleotide variant (synonymous variant)	DNA ligase IV deficiency	GLikely benign
Select item 641337	NM_206937.2(LIG4):c.2405G>A (p.Arg802Gln)	LIG4 (R802Q +2 more)	Single nucleotide variant (missense variant)	DNA ligase IV deficiency	GUncertain significance
Select item 565703	NM_206937.2(LIG4):c.2404C>T (p.Arg802Trp)	LIG4 (R802W +2 more)	Single nucleotide variant (missense variant)	DNA ligase IV deficiency	GUncertain significance
Select item 955416	NM_206937.2(LIG4):c.2401T>G (p.Tyr801Asp)	LIG4 (Y801D +2 more)	Single nucleotide variant (missense variant)	DNA ligase IV deficiency	GUncertain significance
Select item 1448943	NM_206937.2(LIG4):c.2390C>T (p.Ala797Val)	LIG4 (A809V +2 more)	Single nucleotide variant (missense variant)	DNA ligase IV deficiency	GUncertain significance
Select item 533825	NM_206937.2(LIG4):c.2389G>T (p.Ala797Ser)	LIG4 (A797S +2 more)	Single nucleotide variant (missense 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 1020554	NM_206937.2(LIG4):c.2388T>G (p.Ile796Met)	LIG4 (I729M +2 more)	Single nucleotide variant (missense variant)	DNA ligase IV deficiency	GUncertain significance
Select item 1023480	NM_206937.2(LIG4):c.2387T>G (p.Ile796Ser)	LIG4 (I729S +2 more)	Single nucleotide variant (missense variant)	DNA ligase IV deficiency	GUncertain significance
Select item 1586912	NM_206937.2(LIG4):c.2355C>T (p.Asn785=)	LIG4	Single nucleotide variant (synonymous variant)	DNA ligase IV deficiency	GLikely benign
Select item 1470288	NM_206937.2(LIG4):c.2339G>A (p.Gly780Glu)	LIG4 (G792E +2 more)	Single nucleotide variant (missense variant)	DNA ligase IV deficiency	GUncertain significance
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 2842868	NM_206937.2(LIG4):c.2316_2332del (p.Gln773fs)	LIG4 (Q773fs +2 more)	Deletion (frameshift variant)	DNA ligase IV deficiency	GPathogenic
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 2830712	NM_206937.2(LIG4):c.2320C>T (p.Leu774=)	LIG4	Single nucleotide variant (synonymous variant)	DNA ligase IV deficiency	GLikely benign
Select item 837865	NM_206937.2(LIG4):c.2320C>G (p.Leu774Val)	LIG4 (L707V +2 more)	Single nucleotide variant (missense variant)	DNA ligase IV deficiency	GUncertain significance
Select item 795355	NM_206937.2(LIG4):c.2319A>G (p.Gln773=)	LIG4	Single nucleotide variant (synonymous variant)	DNA ligase IV deficiency	GLikely benign
Select item 1983356	NM_206937.2(LIG4):c.2317C>T (p.Gln773Ter)	LIG4 (Q706* +2 more)	Single nucleotide variant (nonsense)	DNA ligase IV deficiency	GPathogenic
Select item 657797	NM_206937.2(LIG4):c.2317C>A (p.Gln773Lys)	LIG4 (Q773K +2 more)	Single nucleotide variant (missense variant)	DNA ligase IV deficiency	GUncertain significance
Select item 1153147	NM_206937.2(LIG4):c.2316C>T (p.Asn772=)	LIG4	Single nucleotide variant (synonymous variant)	DNA ligase IV deficiency	GLikely benign

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