Full data view for gene NFKB1

Information The variants shown are described using the transcript reference sequence.

53 entries on 1 page. Showing entries 1 - 53.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+?/. - c.40-1G>T r.spl? p.? Unknown - likely pathogenic g.103450992G>T - - - NFKB1_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.115A>G r.(?) p.(Thr39Ala) Unknown - VUS g.103451068A>G - - - NFKB1_000026 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.115A>G r.(?) p.(Thr39Ala) Unknown - VUS g.103451068A>G - - - NFKB1_000026 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.118G>A r.(?) p.(Asp40Asn) Unknown - VUS g.103451071G>A g.102529914G>A NFKB1(NM_003998.4):c.118G>A (p.A40T) - NFKB1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.183dup r.(?) p.(Glu62*) Unknown - pathogenic g.103459041dup - NFKB1(NM_003998.4):c.186dupT (p.E63*) - NFKB1_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.256-5T>C r.spl? p.? Unknown - likely benign g.103488139T>C - NFKB1(NM_003998.4):c.259-5T>C - NFKB1_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.286A>G r.(?) p.(Ile96Val) Unknown - VUS g.103488174A>G - - - NFKB1_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.314del r.(?) p.(Asn105IlefsTer21) Unknown - pathogenic g.103488202del g.102567045del NFKB1(NM_003998.4):c.317delA (p.N106Ifs*21) - NFKB1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.580G>T r.(?) p.(Glu194Ter) Unknown - pathogenic g.103500049G>T g.102578892G>T - - NFKB1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.590G>A r.(?) p.(Arg197His) Unknown - likely benign g.103500059G>A - NFKB1(NM_001165412.1):c.590G>A (p.R197H) - NFKB1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.720T>C r.(?) p.(Tyr240=) Unknown - likely benign g.103500189T>C - NFKB1(NM_001165412.1):c.720T>C (p.Y240=) - NFKB1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.727+4A>G r.spl? p.? Unknown - pathogenic g.103500200A>G g.102579043A>G - - NFKB1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.791G>A r.(?) p.(Gly264Glu) Unknown - VUS g.103501755G>A - - - NFKB1_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.886G>T r.(?) p.(Gly296*) Unknown - pathogenic g.103504076G>T - - - NFKB1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.925-13T>A r.(=) p.(=) Unknown - likely benign g.103505826T>A - NFKB1(NM_003998.4):c.928-13T>A - NFKB1_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1045T>C r.(?) p.(Tyr349His) Unknown - likely pathogenic g.103505959T>C - NFKB1(NM_003998.4):c.1048T>C (p.Y350H) - NFKB1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1047C>T r.(?) p.(Tyr349=) Unknown - likely benign g.103505961C>T g.102584804C>T NFKB1(NM_001165412.1):c.1047C>T (p.(Tyr349=)) - NFKB1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.1108T>A r.(?) p.(Phe370Ile) Unknown - likely pathogenic g.103514626T>A g.102593469T>A NM_003998.3(NFKB1):c.1111T>A p.(Phe371Ile) - NFKB1_000001 variant could not be associated with disease phenotype PubMed: Vogelaar 2017, Journal: Vogelaar 2017 - - Germline - - - - - DNA SEQ-NG - - cancer, gastric Vogelaar-531A PubMed: Vogelaar 2017, Journal: Vogelaar 2017 54 patients from 53 families with genetically unexplained diffuse-type and intestinal-type gastric cancer - - - - - - - - 1 Marjolijn JL Ligtenberg
-/. - c.1140T>C r.(?) p.(Ala380=) Unknown - benign g.103514658T>C g.102593501T>C NFKB1(NM_003998.4):c.1143T>C (p.A381=) - NFKB1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1161G>T r.(?) p.(Met387Ile) Unknown - VUS g.103514679G>T - NFKB1(NM_003998.4):c.1164G>T (p.M388I) - NFKB1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1173C>T r.(?) p.(Gly391=) Unknown - likely benign g.103514691C>T g.102593534C>T NFKB1(NM_001165412.1):c.1173C>T (p.G391=) - NFKB1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1207+16T>C r.(=) p.(=) Unknown - benign g.103514741T>C g.102593584T>C NFKB1(NM_003998.4):c.1210+16T>C - NFKB1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1258C>T r.(?) p.(His420Tyr) Unknown - VUS g.103516099C>T - NFKB1(NM_003998.4):c.1261C>T (p.H421Y) - NFKB1_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1385T>C r.(?) p.(Ile462Thr) Unknown - likely benign g.103517382T>C - NFKB1(NM_003998.4):c.1388T>C (p.I463T) - NFKB1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1452G>A r.(?) p.(=) Unknown - VUS g.103517449G>A - NFKB1(NM_003998.4):c.1455G>A (p.T485=) - NFKB1_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1480G>T r.(?) p.(Ala494Ser) Unknown - likely benign g.103517477G>T - NFKB1(NM_003998.4):c.1483G>T (p.A495S) - NFKB1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1598G>A r.(?) p.(Arg533His) Unknown - likely benign g.103518782G>A g.102597625G>A NFKB1(NM_003998.4):c.1601G>A (p.R534H) - NFKB1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1598G>A r.(?) p.(Arg533His) Unknown - VUS g.103518782G>A - - - NFKB1_000012 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.1598G>A r.(?) p.(Arg533His) Unknown - VUS g.103518782G>A - NFKB1(NM_003998.4):c.1601G>A (p.R534H) - NFKB1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1598G>A r.(?) p.(Arg533His) Unknown - VUS g.103518782G>A - NFKB1(NM_003998.4):c.1601G>A (p.R534H) - NFKB1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1634+12C>G r.(=) p.(=) Unknown - likely benign g.103518830C>G g.102597673C>G NFKB1(NM_003998.4):c.1637+12C>G - NFKB1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1733G>A r.(?) p.(Arg578Lys) Unknown - likely benign g.103522150G>A g.102600993G>A NFKB1(NM_003998.4):c.1736G>A (p.R579K) - NFKB1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1733G>A r.(?) p.(Arg578Lys) Unknown - likely benign g.103522150G>A - NFKB1(NM_003998.4):c.1736G>A (p.R579K) - NFKB1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1752G>A r.(?) p.(Thr584=) Unknown - likely benign g.103527655G>A g.102606498G>A NFKB1(NM_001165412.1):c.1752G>A (p.(Thr584=)) - NFKB1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1796A>C r.(?) p.(Glu599Ala) Unknown - VUS g.103527699A>C - - - NFKB1_000027 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
-?/. - c.1842G>T r.(?) p.(Leu614Phe) Unknown - likely benign g.103527745G>T - NFKB1(NM_003998.4):c.1845G>T (p.L615F) - NFKB1_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1951+13C>A r.(=) p.(=) Unknown - likely benign g.103527867C>A - NFKB1(NM_003998.4):c.1954+13C>A - NFKB1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2108G>T r.(?) p.(Cys703Phe) Unknown - VUS g.103528463G>T - NFKB1(NM_003998.4):c.2111G>T (p.C704F) - NFKB1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2193C>T r.(?) p.(Ser731=) Unknown - likely benign g.103528877C>T - NFKB1(NM_001165412.1):c.2193C>T (p.S731=) - NFKB1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2224+18C>T r.(=) p.(=) Unknown - likely benign g.103528926C>T g.102607769C>T NFKB1(NM_003998.4):c.2227+18C>T - NFKB1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2229A>G r.(?) p.(Ala743=) Unknown - likely benign g.103531736A>G g.102610579A>G NFKB1(NM_003998.4):c.2232A>G (p.A744=) - NFKB1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2270A>G r.(?) p.(Asp757Gly) Unknown - VUS g.103531777A>G - NFKB1(NM_001165412.1):c.2270A>G (p.D757G) - NFKB1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2278T>A r.(?) p.(Trp760Arg) Unknown - likely benign g.103531785T>A g.102610628T>A NFKB1(NM_003998.4):c.2281T>A (p.W761R) - NFKB1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2334G>A r.(?) p.(Met778Ile) Unknown - likely benign g.103531841G>A - NFKB1(NM_003998.4):c.2337G>A (p.M779I) - NFKB1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2375C>G r.(?) p.(Pro792Arg) Unknown - VUS g.103533226C>G g.102612069C>G NFKB1(NM_003998.4):c.2378C>G (p.P793R) - NFKB1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2416G>A r.(?) p.(Gly806Arg) Unknown - likely pathogenic g.103533267G>A g.102612110G>A - - NFKB1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2457G>C r.(?) p.(Leu819=) Unknown - benign g.103533631G>C - NFKB1(NM_003998.4):c.2460G>C (p.L820=) - NFKB1_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2528T>C r.(?) p.(Ile843Thr) Unknown - VUS g.103533702T>C - - - NFKB1_000028 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
+?/. - c.2528_2532dup r.(?) p.(Asn845TyrfsTer8) Unknown - likely pathogenic g.103533702_103533706dup g.102612545_102612549dup NFKB1(NM_001165412.1):c.2528_2532dupTACTT (p.N845Yfs*8) - NFKB1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2589+13C>G r.(=) p.(=) Unknown - likely benign g.103533776C>G - NFKB1(NM_003998.4):c.2592+13C>G - NFKB1_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2671G>A r.(?) p.(Ala891Thr) Unknown - VUS g.103534663G>A - NFKB1(NM_001165412.1):c.2671G>A (p.A891T) - NFKB1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2735G>A r.(?) p.(Arg912Lys) Unknown - likely benign g.103534727G>A - NFKB1(NM_003998.3):c.2738G>A (p.(Arg913Lys)) - NFKB1_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2853C>T r.(?) p.(Leu951=) Unknown - likely benign g.103537697C>T g.102616540C>T NFKB1(NM_003998.4):c.2856C>T (p.L952=) - NFKB1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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