5897[geneid] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 545

<< First< Prev

Page of 6

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58858	GRCh38/hg38 11p14.3-12(chr11:22550115-38199159)x1	PAX6_HS3, PAX6_HS8 +334 more	Copy number loss	See cases	GPathogenic
Select item 59751	GRCh38/hg38 11p13-12(chr11:34161694-36799127)x3	ABTB2, APIP +100 more	Copy number gain	See cases	GPathogenic
Select item 154920	GRCh38/hg38 11p13-12(chr11:34168931-36820798)x3	ABTB2, APIP +100 more	Copy number gain	See cases	GUncertain significance
Select item 3338423	Single allele	APIP, CD44 +74 more	Duplication	11p13 microduplication syndrome	GUncertain significance
Select item 59413	GRCh38/hg38 11p13-12(chr11:35103218-38791492)x1	CD44, CD44-AS1 +66 more	Copy number loss	See cases	GUncertain significance
Select item 57374	GRCh38/hg38 11p13-12(chr11:35135480-37649168)x1	CD44, CD44-AS1 +56 more	Copy number loss	See cases	GUncertain significance
Select item 58889	GRCh38/hg38 11p13-11.2(chr11:35663578-46959820)x1	ACCS, ACCSL +225 more	Copy number loss	See cases	GPathogenic
Select item 149701	GRCh38/hg38 11p13-12(chr11:36007377-40318124)x1	COMMD9, IFTAP +36 more	Copy number loss	See cases	GLikely pathogenic
Select item 152867	GRCh38/hg38 11p12(chr11:36487236-40907935)x1	IFTAP, LINC01493 +22 more	Copy number loss	See cases	GUncertain significance
Select item 878829	NM_000536.4(RAG2):c.*582T>C	RAG2	Single nucleotide variant (3 prime UTR variant)	Histiocytic medullary reticulosis +1 more	GUncertain significance
Select item 304541	NM_000536.4(RAG2):c.*522C>G	RAG2	Single nucleotide variant (3 prime UTR variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more	GUncertain significance
Select item 878830	NM_000536.4(RAG2):c.*348C>G	RAG2	Single nucleotide variant (3 prime UTR variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more	GUncertain significance
Select item 304542	NM_000536.4(RAG2):c.*328A>G	RAG2	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 304543	NM_000536.4(RAG2):c.*227T>C	RAG2	Single nucleotide variant (3 prime UTR variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more	GLikely benign
Select item 304544	NM_000536.4(RAG2):c.*183C>A	RAG2	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 304545	NM_000536.4(RAG2):c.*144G>T	RAG2	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 304546	NM_000536.4(RAG2):c.*136A>C	RAG2	Single nucleotide variant (3 prime UTR variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more	GUncertain significance
Select item 304547	NM_000536.4(RAG2):c.*90T>G	RAG2	Single nucleotide variant (3 prime UTR variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more	GUncertain significance
Select item 304548	NM_000536.4(RAG2):c.*72T>C	RAG2	Single nucleotide variant (3 prime UTR variant)	Histiocytic medullary reticulosis +1 more	GUncertain significance
Select item 304549	NM_000536.4(RAG2):c.*52T>A	RAG2	Single nucleotide variant (3 prime UTR variant)	not specified +2 more	GLikely benign
Select item 304550	NM_000536.4(RAG2):c.*33G>T	RAG2	Single nucleotide variant (3 prime UTR variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more	GUncertain significance
Select item 1401136	NM_000536.4(RAG2):c.1581T>G (p.Asp527Glu)	RAG2 (D527E)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more	GUncertain significance
Select item 2937397	NM_000536.4(RAG2):c.1575G>A (p.Leu525=)	RAG2	Single nucleotide variant (synonymous variant)	Combined immunodeficiency with skin granulomas +1 more	GLikely benign
Select item 1143390	NM_000536.4(RAG2):c.1573T>C (p.Leu525=)	RAG2	Single nucleotide variant (synonymous variant)	Combined immunodeficiency with skin granulomas +1 more	GLikely benign
Select item 1107672	NM_000536.4(RAG2):c.1566T>G (p.Leu522=)	RAG2	Single nucleotide variant (synonymous variant)	Combined immunodeficiency with skin granulomas +1 more	GLikely benign
Select item 1025581	NM_000536.4(RAG2):c.1565T>C (p.Leu522Pro)	RAG2 (L522P)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more	GUncertain significance
Select item 1001151	NM_000536.4(RAG2):c.1564C>T (p.Leu522Phe)	RAG2 (L522F)	Single nucleotide variant (missense variant)	Combined immunodeficiency with skin granulomas +1 more	GUncertain significance
Select item 1101948	NM_000536.4(RAG2):c.1560C>T (p.Ser520=)	RAG2	Single nucleotide variant (synonymous variant)	Combined immunodeficiency with skin granulomas +1 more	GLikely benign
Select item 2015247	NM_000536.4(RAG2):c.1546C>T (p.Pro516Ser)	RAG2 (P516S)	Single nucleotide variant (missense variant)	Combined immunodeficiency with skin granulomas +1 more	GUncertain significance
Select item 2944946	NM_000536.4(RAG2):c.1545T>G (p.Thr515=)	RAG2	Single nucleotide variant (synonymous variant)	Combined immunodeficiency with skin granulomas +1 more	GLikely benign
Select item 1517138	NM_000536.4(RAG2):c.1544C>A (p.Thr515Asn)	RAG2 (T515N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 950085	NM_000536.4(RAG2):c.1542G>C (p.Leu514Phe)	RAG2 (L514F)	Single nucleotide variant (missense variant)	Combined immunodeficiency with skin granulomas +1 more	GUncertain significance
Select item 1617159	NM_000536.4(RAG2):c.1533A>G (p.Gly511=)	RAG2	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more	GLikely benign
Select item 1493398	NM_000536.4(RAG2):c.1532del (p.Gly511fs)	RAG2 (G511fs)	Deletion (frameshift variant)	Combined immunodeficiency with skin granulomas +1 more	GUncertain significance
Select item 1052226	NM_000536.4(RAG2):c.1531G>T (p.Gly511Ter)	RAG2 (G511*)	Single nucleotide variant (nonsense)	Combined immunodeficiency with skin granulomas +1 more	GUncertain significance
Select item 1665386	NM_000536.4(RAG2):c.1527T>G (p.Gly509=)	RAG2	Single nucleotide variant (synonymous variant)	Combined immunodeficiency with skin granulomas +1 more	GLikely benign
Select item 618341	NM_000536.4(RAG2):c.1526G>T (p.Gly509Val)	RAG2 (G509V)	Single nucleotide variant (missense variant)	Combined immunodeficiency with skin granulomas +3 more	GUncertain significance
Select item 1117371	NM_000536.4(RAG2):c.1518T>C (p.Arg506=)	RAG2	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more	GLikely benign
Select item 304551	NM_000536.4(RAG2):c.1517G>A (p.Arg506His)	RAG2 (R506H)	Single nucleotide variant (missense variant)	Combined immunodeficiency with skin granulomas +2 more	GConflicting classifications of pathogenicity
Select item 663452	NM_000536.4(RAG2):c.1516C>T (p.Arg506Cys)	RAG2 (R506C)	Single nucleotide variant (missense variant)	Combined immunodeficiency with skin granulomas +2 more	GUncertain significance
Select item 1902184	NM_000536.4(RAG2):c.1515C>T (p.Leu505=)	RAG2	Single nucleotide variant (synonymous variant)	Combined immunodeficiency with skin granulomas +1 more	GLikely benign
Select item 1154081	NM_000536.4(RAG2):c.1515C>A (p.Leu505=)	RAG2	Single nucleotide variant (synonymous variant)	Combined immunodeficiency with skin granulomas +1 more	GLikely benign
Select item 2018007	NM_000536.4(RAG2):c.1491_1506A[6]GCCTCCAATGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTAGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAAAGCCTCCAATG[1] (p.Lys503delinsGlyArgAlaArgTrpLeuThrProValIleProAlaLeuArgGluAlaGluAlaGlyGlySerTer)	RAG2	Insertion (nonsense)	Combined immunodeficiency with skin granulomas +1 more	GPathogenic
Select item 440231	NM_000536.4(RAG2):c.1504A>G (p.Met502Val)	RAG2 (M502V)	Single nucleotide variant (missense variant)	Combined immunodeficiency with skin granulomas +6 more	GConflicting classifications of pathogenicity
Select item 1000609	NM_000536.4(RAG2):c.1501C>G (p.Pro501Ala)	RAG2 (P501A)	Single nucleotide variant (missense variant)	Combined immunodeficiency with skin granulomas +1 more	GUncertain significance
Select item 1122682	NM_000536.4(RAG2):c.1497G>A (p.Lys499=)	RAG2	Single nucleotide variant (synonymous variant)	Combined immunodeficiency with skin granulomas +1 more	GLikely benign
Select item 955968	NM_000536.4(RAG2):c.1492A>T (p.Lys498Ter)	RAG2 (K498*)	Single nucleotide variant (nonsense)	Combined immunodeficiency with skin granulomas +1 more	GUncertain significance
Select item 1564275	NM_000536.4(RAG2):c.1491A>G (p.Leu497=)	RAG2	Single nucleotide variant (synonymous variant)	Combined immunodeficiency with skin granulomas +1 more	GLikely benign
Select item 1619047	NM_000536.4(RAG2):c.1488C>T (p.Pro496=)	RAG2	Single nucleotide variant (synonymous variant)	Combined immunodeficiency with skin granulomas +1 more	GLikely benign
Select item 1351921	NM_000536.4(RAG2):c.1486C>T (p.Pro496Ser)	RAG2 (P496S)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more	GUncertain significance
Select item 1453729	NM_000536.4(RAG2):c.1485A>T (p.Leu495=)	RAG2	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more	GLikely benign
Select item 799629	NM_000536.4(RAG2):c.1483C>T (p.Leu495=)	RAG2	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more	GLikely benign
Select item 1381133	NM_000536.4(RAG2):c.1478G>T (p.Arg493Ile)	RAG2 (R493I)	Single nucleotide variant (missense variant)	Combined immunodeficiency with skin granulomas +1 more	GUncertain significance
Select item 2070775	NM_000536.4(RAG2):c.1475A>G (p.Gln492Arg)	RAG2 (Q492R)	Single nucleotide variant (missense variant)	Combined immunodeficiency with skin granulomas +1 more	GUncertain significance
Select item 2003628	NM_000536.4(RAG2):c.1473C>G (p.Pro491=)	RAG2	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more	GLikely benign
Select item 1647212	NM_000536.4(RAG2):c.1473C>T (p.Pro491=)	RAG2	Single nucleotide variant (synonymous variant)	Combined immunodeficiency with skin granulomas +1 more	GLikely benign
Select item 1640851	NM_000536.4(RAG2):c.1470T>G (p.Thr490=)	RAG2	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more	GLikely benign
Select item 2003629	NM_000536.4(RAG2):c.1467C>G (p.His489Gln)	RAG2 (H489Q)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more	GUncertain significance
Select item 2937130	NM_000536.4(RAG2):c.1461T>G (p.Ala487=)	RAG2	Single nucleotide variant (synonymous variant)	Combined immunodeficiency with skin granulomas +1 more	GLikely benign
Select item 2943799	NM_000536.4(RAG2):c.1449G>A (p.Glu483=)	RAG2	Single nucleotide variant (synonymous variant)	Combined immunodeficiency with skin granulomas +1 more	GLikely benign
Select item 1394125	NM_000536.4(RAG2):c.1447G>A (p.Glu483Lys)	RAG2 (E483K)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more	GUncertain significance
Select item 2419989	NM_000536.4(RAG2):c.1444G>A (p.Val482Met)	RAG2 (V482M)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more	GUncertain significance
Select item 728292	NM_000536.4(RAG2):c.1443T>C (p.His481=)	RAG2	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more	GLikely benign
Select item 3336584	NM_000536.4(RAG2):c.1442A>T (p.His481Leu)	RAG2 (H481L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2938106	NM_000536.4(RAG2):c.1442A>G (p.His481Arg)	RAG2 (H481R)	Single nucleotide variant (missense variant)	Combined immunodeficiency with skin granulomas +1 more	GPathogenic
Select item 496634	NM_000536.4(RAG2):c.1442A>C (p.His481Pro)	RAG2 (H481P)	Single nucleotide variant (missense variant)	Recombinase activating gene 2 deficiency +1 more	GUncertain significance
Select item 2935560	NM_000536.4(RAG2):c.1441C>G (p.His481Asp)	RAG2 (H481D)	Single nucleotide variant (missense variant)	Combined immunodeficiency with skin granulomas +1 more	GPathogenic
Select item 13129	NM_000536.4(RAG2):c.1433G>A (p.Cys478Tyr)	RAG2 (C478Y)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +3 more	GConflicting classifications of pathogenicity
Select item 1082337	NM_000536.4(RAG2):c.1431C>T (p.Tyr477=)	RAG2	Single nucleotide variant (synonymous variant)	Combined immunodeficiency with skin granulomas +1 more	GLikely benign
Select item 496633	NM_000536.4(RAG2):c.1421A>G (p.Asn474Ser)	RAG2 (N474S)	Single nucleotide variant (missense variant)	Recombinase activating gene 2 deficiency	GUncertain significance FDA Recognized database
Select item 956389	NM_000536.4(RAG2):c.1414G>A (p.Gly472Arg)	RAG2 (G472R)	Single nucleotide variant (missense variant)	Combined immunodeficiency with skin granulomas +1 more	GUncertain significance
Select item 1937618	NM_000536.4(RAG2):c.1413A>C (p.Ala471=)	RAG2	Single nucleotide variant (synonymous variant)	Combined immunodeficiency with skin granulomas +1 more	GLikely benign
Select item 3257398	NM_000536.4(RAG2):c.1409C>G (p.Ser470Ter)	RAG2 (S470*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 624574	NM_000536.3(RAG2):c.[1403_1406delATCT;1A>G]	RAG2 (H468fs +1 more)	Deletion (frameshift variant +2 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive	GPathogenic
Select item 191271	NM_000536.4(RAG2):c.1403_1406del (p.His468fs)	RAG2 (H468fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 2943516	NM_000536.4(RAG2):c.1405C>T (p.Leu469=)	RAG2	Single nucleotide variant (synonymous variant)	Combined immunodeficiency with skin granulomas +1 more	GLikely benign
Select item 1069293	NM_000536.4(RAG2):c.1403_1404dup (p.Leu469fs)	RAG2 (L469fs)	Duplication (frameshift variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more	GPathogenic/Likely pathogenic
Select item 1113247	NM_000536.4(RAG2):c.1404T>C (p.His468=)	RAG2	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more	GLikely benign
Select item 469118	NM_000536.4(RAG2):c.1403A>G (p.His468Arg)	RAG2 (H468R)	Single nucleotide variant (missense variant)	Combined immunodeficiency with skin granulomas +2 more	GUncertain significance
Select item 650904	NM_000536.4(RAG2):c.1396C>T (p.Leu466Phe)	RAG2 (L466F)	Single nucleotide variant (missense variant)	Recombinase activating gene 2 deficiency	GLikely pathogenic FDA Recognized database
Select item 1142868	NM_000536.4(RAG2):c.1395A>C (p.Thr465=)	RAG2	Single nucleotide variant (synonymous variant)	Combined immunodeficiency with skin granulomas +1 more	GLikely benign
Select item 2641727	NM_000536.4(RAG2):c.1392C>A (p.Arg464=)	RAG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1909069	NM_000536.4(RAG2):c.1392C>T (p.Arg464=)	RAG2	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more	GLikely benign
Select item 1905463	NM_000536.4(RAG2):c.1391G>C (p.Arg464Pro)	RAG2 (R464P)	Single nucleotide variant (missense variant)	Combined immunodeficiency with skin granulomas +1 more	GUncertain significance
Select item 432772	NM_000536.4(RAG2):c.1391G>A (p.Arg464His)	RAG2 (R464H)	Single nucleotide variant (missense variant)	Combined immunodeficiency with skin granulomas +3 more	GConflicting classifications of pathogenicity
Select item 972658	NM_000536.4(RAG2):c.1390C>T (p.Arg464Cys)	RAG2 (R464C)	Single nucleotide variant (missense variant)	Combined immunodeficiency with skin granulomas +1 more	GUncertain significance
Select item 1535153	NM_000536.4(RAG2):c.1389A>G (p.Glu463=)	RAG2	Single nucleotide variant (synonymous variant)	Combined immunodeficiency with skin granulomas +1 more	GLikely benign
Select item 2940816	NM_000536.4(RAG2):c.1384G>A (p.Ala462Thr)	RAG2 (A462T)	Single nucleotide variant (missense variant)	Combined immunodeficiency with skin granulomas +1 more	GUncertain significance
Select item 763116	NM_000536.4(RAG2):c.1381C>T (p.Leu461=)	RAG2	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more	GLikely benign
Select item 1948739	NM_000536.4(RAG2):c.1375A>G (p.Met459Val)	RAG2 (M459V)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 496632	NM_000536.4(RAG2):c.1375A>C (p.Met459Leu)	RAG2 (M459L)	Single nucleotide variant (missense variant)	Combined immunodeficiency with skin granulomas +5 more	GLikely pathogenic
Select item 2036098	NM_000536.4(RAG2):c.1368T>G (p.Ala456=)	RAG2	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more	GLikely benign
Select item 1003883	NM_000536.4(RAG2):c.1367C>A (p.Ala456Asp)	RAG2 (A456D)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more	GUncertain significance
Select item 496631	NM_000536.4(RAG2):c.1366G>A (p.Ala456Thr)	RAG2 (A456T)	Single nucleotide variant (missense variant)	Recombinase activating gene 2 deficiency +2 more	GLikely pathogenic
Select item 1141275	NM_000536.4(RAG2):c.1365T>C (p.His455=)	RAG2	Single nucleotide variant (synonymous variant)	Combined immunodeficiency with skin granulomas +1 more	GLikely benign
Select item 1581102	NM_000536.4(RAG2):c.1362C>T (p.Val454=)	RAG2	Single nucleotide variant (synonymous variant)	Combined immunodeficiency with skin granulomas +1 more	GLikely benign
Select item 496630	NM_000536.4(RAG2):c.1357T>A (p.Trp453Arg)	RAG2 (W453R)	Single nucleotide variant (missense variant)	Recombinase activating gene 2 deficiency	GLikely pathogenic FDA Recognized database
Select item 13138	NM_000536.4(RAG2):c.1352G>C (p.Gly451Ala)	RAG2 (G451A)	Single nucleotide variant (missense variant)	Recombinase activating gene 2 deficiency	GPathogenic FDA Recognized database
Select item 2020432	NM_000536.4(RAG2):c.1348del (p.Asp450fs)	RAG2 (D450fs)	Deletion (frameshift variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more	GPathogenic
Select item 2930375	NM_000536.4(RAG2):c.1347G>A (p.Gly449=)	RAG2	Single nucleotide variant (synonymous variant)	Combined immunodeficiency with skin granulomas +1 more	GLikely benign

<< First< Prev

Page of 6