C1865370[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 121

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 194347	NM_001033855.3(DCLRE1C):c.2001A>G (p.Leu667=)	DCLRE1C	Single nucleotide variant (synonymous variant +2 more)	not specified +4 more	GBenign/Likely benign
Select item 468484	NM_001033855.3(DCLRE1C):c.1903dup (p.Ser635fs)	DCLRE1C (S515fs +2 more)	Duplication (frameshift variant +2 more)	Histiocytic medullary reticulosis +3 more	GConflicting classifications of pathogenicity
Select item 137075	NM_001033855.3(DCLRE1C):c.1893C>T (p.Pro631=)	DCLRE1C	Single nucleotide variant (synonymous variant +2 more)	Histiocytic medullary reticulosis +3 more	GBenign/Likely benign
Select item 299311	NM_001033855.3(DCLRE1C):c.1692G>C (p.Glu564Asp)	DCLRE1C (E564D +2 more)	Single nucleotide variant (missense variant +1 more)	Histiocytic medullary reticulosis +1 more	GUncertain significance
Select item 299312	NM_001033855.3(DCLRE1C):c.1670C>T (p.Thr557Ile)	DCLRE1C (T557I +2 more)	Single nucleotide variant (missense variant +1 more)	Histiocytic medullary reticulosis +1 more	GUncertain significance
Select item 743312	NM_001033855.3(DCLRE1C):c.1602C>T (p.Ser534=)	DCLRE1C	Single nucleotide variant (synonymous variant +1 more)	Histiocytic medullary reticulosis +1 more	GConflicting classifications of pathogenicity
Select item 706525	NM_001033855.3(DCLRE1C):c.1587A>C (p.Ser529=)	DCLRE1C	Single nucleotide variant (synonymous variant +1 more)	Severe combined immunodeficiency due to DCLRE1C deficiency +1 more	GConflicting classifications of pathogenicity
Select item 299313	NM_001033855.3(DCLRE1C):c.1545A>G (p.Gly515=)	DCLRE1C	Single nucleotide variant (synonymous variant +1 more)	DCLRE1C-related condition +2 more	GBenign/Likely benign
Select item 299314	NM_001033855.3(DCLRE1C):c.1491T>C (p.Asp497=)	DCLRE1C	Single nucleotide variant (synonymous variant +1 more)	Histiocytic medullary reticulosis +1 more	GConflicting classifications of pathogenicity
Select item 878126	NM_001033855.3(DCLRE1C):c.1381G>A (p.Glu461Lys)	DCLRE1C (E346K +2 more)	Single nucleotide variant (missense variant +1 more)	Histiocytic medullary reticulosis +1 more	GUncertain significance
Select item 299315	NM_001033855.3(DCLRE1C):c.1368C>T (p.Asn456=)	DCLRE1C	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 286957	NM_001033855.3(DCLRE1C):c.1101A>G (p.Pro367=)	DCLRE1C	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 299316	NM_001033855.3(DCLRE1C):c.985T>A (p.Leu329Met)	DCLRE1C (L329M +2 more)	Single nucleotide variant (missense variant +1 more)	Severe combined immunodeficiency due to DCLRE1C deficiency +3 more	GUncertain significance
Select item 137073	NM_001033855.3(DCLRE1C):c.959C>G (p.Ser320Cys)	DCLRE1C (S320C +2 more)	Single nucleotide variant (missense variant +1 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GBenign FDA Recognized database
Select item 299317	NM_001033855.3(DCLRE1C):c.915G>A (p.Val305=)	DCLRE1C	Single nucleotide variant (synonymous variant +1 more)	Histiocytic medullary reticulosis +1 more	GConflicting classifications of pathogenicity
Select item 879591	NM_001033855.3(DCLRE1C):c.870C>T (p.Ser290=)	DCLRE1C	Single nucleotide variant (synonymous variant +1 more)	Severe combined immunodeficiency due to DCLRE1C deficiency +1 more	GConflicting classifications of pathogenicity
Select item 299318	NM_001033855.3(DCLRE1C):c.799T>C (p.Trp267Arg)	DCLRE1C (W267R +2 more)	Single nucleotide variant (missense variant +1 more)	Histiocytic medullary reticulosis +1 more	GUncertain significance
Select item 257181	NM_001033855.3(DCLRE1C):c.780+10C>T	DCLRE1C	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to DCLRE1C deficiency +3 more	GBenign
Select item 879592	NM_001033855.3(DCLRE1C):c.780+5G>A	DCLRE1C	Single nucleotide variant (intron variant)	Histiocytic medullary reticulosis +1 more	GUncertain significance
Select item 736910	NM_001033855.3(DCLRE1C):c.741A>G (p.Thr247=)	DCLRE1C	Single nucleotide variant (synonymous variant +1 more)	Histiocytic medullary reticulosis +1 more	GConflicting classifications of pathogenicity
Select item 299319	NM_001033855.3(DCLRE1C):c.737C>T (p.Thr246Ile)	DCLRE1C (T246I +2 more)	Single nucleotide variant (missense variant +1 more)	Histiocytic medullary reticulosis +2 more	GUncertain significance
Select item 257180	NM_001033855.3(DCLRE1C):c.728A>G (p.His243Arg)	DCLRE1C (H243R +2 more)	Single nucleotide variant (missense variant +1 more)	Histiocytic medullary reticulosis +3 more	GBenign
Select item 879593	NM_001033855.3(DCLRE1C):c.726T>C (p.Leu242=)	DCLRE1C	Single nucleotide variant (synonymous variant +1 more)	Severe combined immunodeficiency due to DCLRE1C deficiency +1 more	GConflicting classifications of pathogenicity
Select item 879947	NM_001033855.3(DCLRE1C):c.679-3T>C	DCLRE1C	Single nucleotide variant (intron variant)	Histiocytic medullary reticulosis +1 more	GUncertain significance
Select item 36000	NM_001033855.3(DCLRE1C):c.643C>T (p.Leu215=)	DCLRE1C	Single nucleotide variant (synonymous variant +1 more)	not provided +4 more	GBenign
Select item 299320	NM_001033855.3(DCLRE1C):c.550A>T (p.Ser184Cys)	DCLRE1C (S184C +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 811610	NM_001033855.3(DCLRE1C):c.537+14G>A	DCLRE1C	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 35999	NM_001033855.3(DCLRE1C):c.512C>G (p.Pro171Arg)	DCLRE1C (P171R +2 more)	Single nucleotide variant (missense variant +1 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GBenign FDA Recognized database
Select item 879948	NM_001033855.3(DCLRE1C):c.484G>A (p.Val162Ile)	DCLRE1C (V162I +2 more)	Single nucleotide variant (missense variant +1 more)	Histiocytic medullary reticulosis +1 more	GUncertain significance
Select item 879949	NM_001033855.3(DCLRE1C):c.457G>T (p.Gly153Trp)	DCLRE1C (G153W +2 more)	Single nucleotide variant (missense variant +1 more)	Histiocytic medullary reticulosis +1 more	GUncertain significance
Select item 299321	NM_001033855.3(DCLRE1C):c.384T>C (p.Asn128=)	DCLRE1C	Single nucleotide variant (synonymous variant +1 more)	Histiocytic medullary reticulosis +1 more	GConflicting classifications of pathogenicity
Select item 877153	NM_001033855.3(DCLRE1C):c.306+14A>G	DCLRE1C	Single nucleotide variant (intron variant)	Histiocytic medullary reticulosis +1 more	GConflicting classifications of pathogenicity
Select item 877154	NM_001033855.3(DCLRE1C):c.281C>A (p.Ser94Tyr)	DCLRE1C (S94Y)	Single nucleotide variant (missense variant +2 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GUncertain significance FDA Recognized database
Select item 379076	NM_001033855.3(DCLRE1C):c.227G>C (p.Arg76Thr)	DCLRE1C (R76T)	Single nucleotide variant (missense variant +3 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GBenign FDA Recognized database
Select item 299322	NM_001033855.3(DCLRE1C):c.169G>T (p.Val57Phe)	DCLRE1C (V57F)	Single nucleotide variant (missense variant +3 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GLikely benign FDA Recognized database
Select item 4674	NM_001033855.3(DCLRE1C):c.103C>G (p.His35Asp)	DCLRE1C (H35D)	Single nucleotide variant (missense variant +2 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GPathogenic FDA Recognized database
Select item 877155	NM_001033855.3(DCLRE1C):c.27C>T (p.Ala9=)	DCLRE1C	Single nucleotide variant (synonymous variant +2 more)	Severe combined immunodeficiency due to DCLRE1C deficiency +1 more	GConflicting classifications of pathogenicity
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 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 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

<< First< Prev

Page of 2