C1847827[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar

Search results

Items: 86

	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)	Severe combined immunodeficiency due to DCLRE1C deficiency +1 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 +1 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)	Severe combined immunodeficiency due to DCLRE1C deficiency +1 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)	not provided +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)	not provided +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)	not provided +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)	not provided +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 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 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 310975	NM_206937.2(LIG4):c.2525C>A (p.Ala842Asp)	LIG4 (A842D +2 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
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 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 881240	NM_206937.2(LIG4):c.2435T>G (p.Met812Arg)	LIG4 (M812R +2 more)	Single nucleotide variant (missense variant)	DNA ligase IV deficiency +1 more	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 310978	NM_206937.2(LIG4):c.2274T>C (p.Tyr758=)	LIG4	Single nucleotide variant (synonymous variant)	DNA ligase IV deficiency +1 more	GConflicting classifications of pathogenicity
Select item 310979	NM_206937.2(LIG4):c.2222G>A (p.Arg741His)	LIG4 (R741H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 632206	NM_206937.2(LIG4):c.2135_2136del (p.Ile712fs)	LIG4 (I645fs +2 more)	Deletion (frameshift variant)	LIG4-Related Disorders +1 more	GConflicting classifications of pathogenicity
Select item 211374	NM_206937.2(LIG4):c.2016C>G (p.Ser672Arg)	LIG4 (S672R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 310980	NM_206937.2(LIG4):c.1983T>C (p.Asp661=)	LIG4	Single nucleotide variant (synonymous variant)	DNA ligase IV deficiency +2 more	GConflicting classifications of pathogenicity
Select item 695189	NM_206937.2(LIG4):c.1972A>G (p.Ile658Val)	LIG4 (I658V +2 more)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to DCLRE1C deficiency +1 more	GBenign
Select item 882854	NM_206937.2(LIG4):c.1971T>C (p.Asn657=)	LIG4	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to DCLRE1C deficiency +1 more	GConflicting classifications of pathogenicity
Select item 577575	NM_206937.2(LIG4):c.1882C>T (p.Arg628Trp)	LIG4 (R628W +2 more)	Single nucleotide variant (missense variant)	Multiple myeloma +2 more	GUncertain significance
Select item 883646	NM_206937.2(LIG4):c.1830C>T (p.Leu610=)	LIG4	Single nucleotide variant (synonymous variant)	DNA ligase IV deficiency +1 more	GConflicting classifications of pathogenicity
Select item 211373	NM_206937.2(LIG4):c.1798G>A (p.Glu600Lys)	LIG4 (E600K +2 more)	Single nucleotide variant (missense variant)	DNA ligase IV deficiency +2 more	GBenign
Select item 310981	NM_206937.2(LIG4):c.1756G>T (p.Asp586Tyr)	LIG4 (D586Y +2 more)	Single nucleotide variant (missense variant)	DNA ligase IV deficiency +1 more	GUncertain significance
Select item 881301	NM_206937.2(LIG4):c.1710T>C (p.Tyr570=)	LIG4	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to DCLRE1C deficiency +1 more	GConflicting classifications of pathogenicity
Select item 881302	NM_206937.2(LIG4):c.1705A>G (p.Met569Val)	LIG4 (M569V +2 more)	Single nucleotide variant (missense variant)	DNA ligase IV deficiency +2 more	GUncertain significance
Select item 129482	NM_206937.2(LIG4):c.1704T>C (p.Asp568=)	LIG4	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 310982	NM_206937.2(LIG4):c.1617A>T (p.Leu539Phe)	LIG4 (L539F +2 more)	Single nucleotide variant (missense variant)	DNA ligase IV deficiency +1 more	GUncertain significance
Select item 310983	NM_206937.2(LIG4):c.1568C>G (p.Ala523Gly)	LIG4 (A523G +2 more)	Single nucleotide variant (missense variant)	DNA ligase IV deficiency +1 more	GUncertain significance
Select item 279838	NM_206937.2(LIG4):c.1271_1275del (p.Lys424fs)	LIG4 (K357fs +2 more)	Deletion (frameshift variant)	Multiple myeloma +3 more	GPathogenic
Select item 310984	NM_206937.2(LIG4):c.1252T>C (p.Leu418=)	LIG4	Single nucleotide variant (synonymous variant)	DNA ligase IV deficiency +1 more	GConflicting classifications of pathogenicity
Select item 881753	NM_206937.2(LIG4):c.1239A>G (p.Glu413=)	LIG4	Single nucleotide variant (synonymous variant)	DNA ligase IV deficiency +1 more	GConflicting classifications of pathogenicity
Select item 881754	NM_206937.2(LIG4):c.1235A>G (p.Asn412Ser)	LIG4 (N345S +2 more)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to DCLRE1C deficiency +1 more	GUncertain significance
Select item 310985	NM_206937.2(LIG4):c.1198A>C (p.Ile400Leu)	LIG4 (I400L +2 more)	Single nucleotide variant (missense variant)	DNA ligase IV deficiency +1 more	GUncertain significance
Select item 533822	NM_206937.2(LIG4):c.1094G>T (p.Cys365Phe)	LIG4 (C365F +2 more)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to DCLRE1C deficiency +2 more	GUncertain significance
Select item 310986	NM_206937.2(LIG4):c.1020A>G (p.Gln340=)	LIG4	Single nucleotide variant (synonymous variant)	DNA ligase IV deficiency +1 more	GConflicting classifications of pathogenicity
Select item 882900	NM_206937.2(LIG4):c.968T>C (p.Ile323Thr)	LIG4 (I256T +2 more)	Single nucleotide variant (missense variant)	DNA ligase IV deficiency +1 more	GUncertain significance
Select item 310987	NM_206937.2(LIG4):c.915T>C (p.Ser305=)	LIG4	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 310988	NM_206937.2(LIG4):c.807C>T (p.Tyr269=)	LIG4	Single nucleotide variant (synonymous variant)	DNA ligase IV deficiency +2 more	GBenign
Select item 883697	NM_206937.2(LIG4):c.713T>C (p.Ile238Thr)	LIG4 (I171T +2 more)	Single nucleotide variant (missense variant)	DNA ligase IV deficiency +1 more	GConflicting classifications of pathogenicity
Select item 310989	NM_206937.2(LIG4):c.607A>G (p.Ile203Val)	LIG4 (I203V +2 more)	Single nucleotide variant (missense variant)	DNA ligase IV deficiency +1 more	GUncertain significance
Select item 310990	NM_206937.2(LIG4):c.563G>A (p.Arg188Gln)	LIG4 (R188Q +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 310991	NM_206937.2(LIG4):c.560T>C (p.Ile187Thr)	LIG4 (I187T +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 211375	NM_206937.2(LIG4):c.513T>C (p.Leu171=)	LIG4	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 310992	NM_206937.2(LIG4):c.500T>G (p.Ile167Arg)	LIG4 (I167R +2 more)	Single nucleotide variant (missense variant)	DNA ligase IV deficiency +1 more	GConflicting classifications of pathogenicity
Select item 310993	NM_206937.2(LIG4):c.437A>G (p.Gln146Arg)	LIG4 (Q146R +2 more)	Single nucleotide variant (missense variant)	DNA ligase IV deficiency +1 more	GUncertain significance
Select item 435755	NM_206937.2(LIG4):c.285G>A (p.Glu95=)	LIG4	Single nucleotide variant (synonymous variant)	DNA ligase IV deficiency +3 more	GConflicting classifications of pathogenicity
Select item 310994	NM_206937.2(LIG4):c.180C>T (p.Val60=)	LIG4	Single nucleotide variant (synonymous variant +1 more)	LIG4-related condition +4 more	GBenign/Likely benign
Select item 7677	NM_206937.2(LIG4):c.26C>T (p.Thr9Ile)	LIG4 (T9I)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 310995	NM_206937.2(LIG4):c.13C>A (p.Gln5Lys)	LIG4 (Q5K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 7676	NM_206937.2(LIG4):c.8C>T (p.Ala3Val)	LIG4 (A3V)	Single nucleotide variant (missense variant +1 more)	Severe combined immunodeficiency due to DCLRE1C deficiency +2 more	GBenign/Likely benign
Select item 310996	NM_206937.2(LIG4):c.-7C>T	LIG4	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 310997	NM_206937.2(LIG4):c.-29+15T>G	LIG4	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to DCLRE1C deficiency +1 more	GLikely benign
Select item 310998	NM_206937.2(LIG4):c.-32C>T	LIG4 (P29S)	Single nucleotide variant (5 prime UTR variant +2 more)	Severe combined immunodeficiency due to DCLRE1C deficiency +1 more	GUncertain significance
Select item 310999	NM_206937.2(LIG4):c.-101-31A>G	LIG4	Single nucleotide variant (5 prime UTR variant +1 more)	DNA ligase IV deficiency +1 more	GLikely benign
Select item 311000	NM_206937.2(LIG4):c.-101-95G>A	LIG4	Single nucleotide variant (5 prime UTR variant +1 more)	Severe combined immunodeficiency due to DCLRE1C deficiency +1 more	GBenign
Select item 311001	NM_206937.2(LIG4):c.-101-159G>C	LIG4	Single nucleotide variant (5 prime UTR variant +1 more)	DNA ligase IV deficiency +1 more	GUncertain significance
Select item 311002	NM_206937.2(LIG4):c.-101-172C>T	LIG4	Single nucleotide variant (5 prime UTR variant +1 more)	DNA ligase IV deficiency +1 more	GBenign
Select item 369033	NM_206937.2(LIG4):c.-101-181T>C	LIG4	Single nucleotide variant (5 prime UTR variant +1 more)	DNA ligase IV deficiency +1 more	GUncertain significance

ClinVar

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Items: 86