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Links from MedGen

Items: 47

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)		Review status
1.
GRCh37:
Chr4:103514590
GRCh38:
Chr4:102593433
NFKB1E345*, E358*, E359*Immunodeficiency, common variable, 12Likely pathogenic
(Feb 24, 2022)		criteria provided, single submitter
2.
GRCh37:
Chr4:103533200
GRCh38:
Chr4:102612043
NFKB1Immunodeficiency, common variable, 12Likely pathogenic
(Dec 8, 2021)		criteria provided, single submitter
3.
GRCh37:
Chr4:102851823-104641864
SLC39A8, SLC9B1, SLC9B2, TACR3, UBE2D3, BANK1, BDH2, CENPE, CISD2, MANBA, NFKB1
Immunodeficiency, common variable, 12Likely pathogenicno assertion criteria provided
4.
GRCh37:
Chr4:103505899
GRCh38:
Chr4:102584742
NFKB1V316M, V329M, V330MImmunodeficiency, common variable, 12Likely pathogenic
(Sep 9, 2021)		no assertion criteria provided
5.
GRCh37:
Chr4:103528909
GRCh38:
Chr4:102607752
NFKB1Immunodeficiency, common variable, 12Likely pathogenic
(Aug 17, 2020)		criteria provided, single submitter
6.
NFKB1Immunodeficiency, common variable, 12Likely pathogenic
(Jul 18, 2022)		criteria provided, single submitter
7.
GRCh37:
Chr4:103488294
GRCh38:
Chr4:102567137
NFKB1Immunodeficiency, common variable, 12Pathogenic
(May 4, 2022)		criteria provided, single submitter
8.
GRCh37:
Chr4:103534734
GRCh38:
Chr4:102613577
NFKB1Immunodeficiency, common variable, 12Uncertain significance
(Mar 26, 2021)		criteria provided, single submitter
9.
GRCh37:
Chr4:103522150
GRCh38:
Chr4:102600993
NFKB1, LOC126807127R565K, R578K, R579Knot provided, Immunodeficiency, common variable, 12Conflicting interpretations of pathogenicity
(Dec 1, 2022)		criteria provided, conflicting interpretations
10.
GRCh37:
Chr4:103527848
GRCh38:
Chr4:102606691
NFKB1G636R, G649R, G650Rnot provided, Immunodeficiency, common variable, 12Conflicting interpretations of pathogenicity
(Feb 1, 2023)		criteria provided, conflicting interpretations
11.
GRCh37:
Chr4:103531783
GRCh38:
Chr4:102610626
NFKB1S746C, S759C, S760Cnot provided, Immunodeficiency, common variable, 12Uncertain significance
(Sep 25, 2022)		criteria provided, multiple submitters, no conflicts
12.
GRCh37:
Chr4:103514641
GRCh38:
Chr4:102593484
NFKB1G362S, G375S, G376SImmunodeficiency, common variable, 12, not providedUncertain significance
(Oct 7, 2022)		criteria provided, multiple submitters, no conflicts
13.
GRCh37:
Chr4:103501692
GRCh38:
Chr4:102580535
NFKB1K244R, K230R, K243RImmunodeficiency, common variable, 12, not providedUncertain significance
(Jul 19, 2022)		criteria provided, multiple submitters, no conflicts
14.
GRCh37:
Chr4:103498107
GRCh38:
Chr4:102576950
NFKB1A147V, A160V, A161Vnot provided, Immunodeficiency, common variable, 12Conflicting interpretations of pathogenicity
(Jun 27, 2022)		criteria provided, conflicting interpretations
15.
GRCh37:
Chr4:103514726
GRCh38:
Chr4:102593569
NFKB1Immunodeficiency, common variable, 12, not providedConflicting interpretations of pathogenicity
(Apr 1, 2023)		criteria provided, conflicting interpretations
16.
GRCh37:
Chr4:103500190
GRCh38:
Chr4:102579033
NFKB1D228H, D241H, D242Hnot provided, Immunodeficiency, common variable, 12Uncertain significance
(Nov 19, 2021)		criteria provided, multiple submitters, no conflicts
17.
GRCh37:
Chr4:103534560
GRCh38:
Chr4:102613403
NFKB1Immunodeficiency, common variable, 12, not providedBenign
(Sep 5, 2021)		criteria provided, multiple submitters, no conflicts
18.
GRCh37:
Chr4:103514658
GRCh38:
Chr4:102593501
NFKB1not provided, Immunodeficiency, common variable, 12Benign
(Nov 4, 2022)		criteria provided, multiple submitters, no conflicts
19.
GRCh37:
Chr4:103514741
GRCh38:
Chr4:102593584
NFKB1not provided, Immunodeficiency, common variable, 12Benign
(Nov 3, 2022)		criteria provided, multiple submitters, no conflicts
20.
GRCh37:
Chr4:103505915
GRCh38:
Chr4:102584758
NFKB1R321Q, R334Q, R335QImmunodeficiency, common variable, 12, not providedConflicting interpretations of pathogenicity
(Nov 2, 2022)		criteria provided, conflicting interpretations
21.
GRCh37:
Chr4:103505923
GRCh38:
Chr4:102584766
NFKB1S324fs, S337fs, S338fsImmunodeficiency, common variable, 12Pathogenic
(Apr 20, 2021)		no assertion criteria provided
22.
GRCh37:
Chr4:103498094
GRCh38:
Chr4:102576937
NFKB1R157*, R143*, R156*not providedPathogenic
(Jun 24, 2022)		criteria provided, single submitter
23.
GRCh37:
Chr4:103455020
GRCh38:
Chr4:102533863
NFKB1I33fs, I46fs, I47fsImmunodeficiency, common variable, 12Pathogenic
(Apr 20, 2021)		no assertion criteria provided
24.
GRCh37:
Chr4:103459024
GRCh38:
Chr4:102537867
NFKB1R43C, R56C, R57Cnot providedUncertain significance
(Aug 27, 2021)		criteria provided, single submitter
25.
GRCh37:
Chr4:103500137
GRCh38:
Chr4:102578980
NFKB1S210N, S224N, S223NImmunodeficiency, common variable, 12Uncertain significance
(Sep 26, 2019)		criteria provided, single submitter
26.
GRCh37:
Chr4:103528379
GRCh38:
Chr4:102607222
NFKB1A676V, A662V, A675VImmunodeficiency, common variable, 12Uncertain significance
(May 5, 2020)		criteria provided, single submitter
27.
GRCh37:
Chr4:103498041-103498050
GRCh38:
Chr4:102576884-102576893
NFKB1L126fs, L139fs, L140fsImmunodeficiency, common variable, 12Pathogenic
(Feb 20, 2020)		criteria provided, single submitter
28.
GRCh37:
Chr4:103505961
GRCh38:
Chr4:102584804
NFKB1Immunodeficiency, common variable, 12, not providedBenign
(Nov 3, 2022)		criteria provided, multiple submitters, no conflicts
29.
GRCh37:
Chr4:103534659
GRCh38:
Chr4:102613502
NFKB1A877fs, A890fs, A891fsImmunodeficiency, common variable, 12Likely pathogenic
(Oct 19, 2020)		no assertion criteria provided
30.
GRCh37:
Chr4:103498145-103498146
GRCh38:
Chr4:102576988-102576989
NFKB1L162*, L175*, L176*Immunodeficiency, common variable, 12Pathogenic
(Aug 27, 2020)		criteria provided, single submitter
31.
GRCh37:
Chr4:103455043
GRCh38:
Chr4:102533886
NFKB1Immunodeficiency, common variable, 12, not providedPathogenic/Likely pathogenic
(May 25, 2022)		criteria provided, multiple submitters, no conflicts
32.
GRCh37:
Chr19:36380907
GRCh38:
Chr19:35890005
NFKBIDP258L, P273L, P410L, P400LImmunodeficiency, common variable, 12Uncertain significance
(May 21, 2020)		no assertion criteria provided
33.
GRCh37:
Chr19:36386982
GRCh38:
Chr19:35896080
NFKBIDR184L, R169L, R321L, R311LImmunodeficiency, common variable, 12Uncertain significance
(May 21, 2020)		no assertion criteria provided
34.
GRCh37:
Chr4:103488293
GRCh38:
Chr4:102567136
NFKB1not provided, Immunodeficiency, common variable, 12Pathogenic/Likely pathogenic
(Dec 15, 2022)		criteria provided, multiple submitters, no conflicts
35.
GRCh37:
Chr4:103504037
GRCh38:
Chr4:102582880
NFKB1R283*, R284*Common variable immunodeficiency, Inherited Immunodeficiency Diseases, Immunodeficiency, common variable, 12,
not provided		Pathogenic/Likely pathogenic
(Jun 23, 2022)		criteria provided, multiple submitters, no conflicts
36.
GRCh37:
Chr4:103518718-103518722
GRCh38:
Chr4:102597561-102597565
NFKB1H512fs, H513fs, H499fsInherited Immunodeficiency DiseasesPathogenic
(Jan 1, 2019)		criteria provided, single submitter
37.
GRCh37:
Chr4:103488145
GRCh38:
Chr4:102566988
NFKB1I87S, I86SCommon variable immunodeficiencyPathogenic
(Jan 1, 2019)		criteria provided, single submitter
38.
GRCh37:
Chr4:103527655
GRCh38:
Chr4:102606498
NFKB1not provided, Immunodeficiency, common variable, 12Benign
(Nov 3, 2022)		criteria provided, multiple submitters, no conflicts
39.
GRCh37:
Chr4:103518782
GRCh38:
Chr4:102597625
NFKB1R533H, R534Hnot provided, Immunodeficiency, common variable, 12Likely benign
(Oct 25, 2022)		criteria provided, multiple submitters, no conflicts
40.
GRCh37:
Chr4:103527745
GRCh38:
Chr4:102606588
NFKB1L615F, L614Fnot provided, Immunodeficiency, common variable, 12Benign/Likely benign
(Oct 30, 2022)		criteria provided, multiple submitters, no conflicts
41.
GRCh37:
Chr4:103522167
GRCh38:
Chr4:102601010
LOC126807127, NFKB1Immunodeficiency, common variable, 12Likely pathogenic
(Aug 7, 2018)		criteria provided, single submitter
42.
GRCh37:
Chr4:103488196-103488197
GRCh38:
Chr4:102567039-102567040
NFKB1N106fs, N105fsImmunodeficiency, common variable, 12Likely pathogenic
(Dec 27, 2017)		criteria provided, single submitter
43.
GRCh37:
Chr4:103518700
GRCh38:
Chr4:102597543
NFKB1M507V, M506VImmunodeficiency, common variable, 12, not providedBenign/Likely benign
(Nov 1, 2022)		criteria provided, multiple submitters, no conflicts
44.
GRCh37:
Chr4:103504086-103504087
GRCh38:
Chr4:102582929-102582930
NFKB1S302fs, S301fsInherited Immunodeficiency Diseases, Immunodeficiency, common variable, 12, not provided
Pathogenic/Likely pathogenic
(Aug 24, 2022)		criteria provided, multiple submitters, no conflicts
45.
GRCh37:
Chr4:103498088-103498089
GRCh38:
Chr4:102576931-102576932
NFKB1A155fs, A156fsImmunodeficiency, common variable, 12Pathogenic
(Sep 3, 2015)		no assertion criteria provided
46.
GRCh37:
Chr4:103501798
GRCh38:
Chr4:102580641
NFKB1Immunodeficiency, common variable, 12Pathogenic
(Sep 3, 2015)		no assertion criteria provided
47.
GRCh37:
Chr4:103500200
GRCh38:
Chr4:102579043
NFKB1Immunodeficiency, common variable, 12Likely pathogenic
(Feb 2, 2022)		criteria provided, single submitter
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