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Results: 1 to 20 of 155

NameGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review statusChrLocation
(GRCh38)
1.
IKBKGnot providednot providednot classified by submitterX154563613
2.
IKBKGnot providednot providednot classified by submitterX154563577
3.
IKBKGnot providednot providednot classified by submitterX154561696
4.
IKBKGnot providednot providednot classified by submitterX154560412
5.
IKBKGnot providednot providednot classified by submitterX154556344
6.
IKBKGnot providednot providednot classified by submitterX154556314
7.
IKBKGnot providedGO-ESP:0.00114(A)not providednot classified by submitterX154552171
8.
IKBKGnot providednot providednot classified by submitterX154564451
9.
IKBKGHypohidrotic ectodermal dysplasia with immune deficiencyUncertain significance
(Aug 18, 2011)
classified by single submitterX154558657
10.
IKBKGHypohidrotic ectodermal dysplasia with immune deficiencyPathogenic/Likely pathogenic
(Aug 18, 2011)
classified by single submitterX154558602
11.
IKBKGHypohidrotic ectodermal dysplasia with immune deficiencyUncertain significance
(Aug 18, 2011)
classified by single submitterX154556395
12.
IKBKGHypohidrotic ectodermal dysplasia with immune deficiencyPathogenic/Likely pathogenic
(Aug 18, 2011)
classified by single submitterX154556242 - 154556244
13.
IKBKGHypohidrotic ectodermal dysplasia with immune deficiencyUncertain significance
(Aug 18, 2011)
classified by single submitterX154563941
14.
G6PD, IKBKGSee casesUncertain significance
(Dec 10, 2012)
classified by single submitterX154539013 - 154545901
15.
G6PD, IKBKGSee casesUncertain significance
(Oct 21, 2011)
classified by single submitterX154544685 - 154548174
16.
G6PD, IKBKGnot providedPathogenic/Likely pathogenic
(Sep 6, 2012)
classified by single submitterX154546058
17.
IKBKGX-linked familial atypical mycobacteriosis, type 1Pathogenic/Likely pathogenic
(Sep 8, 2014)
classified by single submitterX154563602
18.
IKBKGX-linked familial atypical mycobacteriosis, type 1Pathogenic/Likely pathogenic
(Sep 8, 2014)
classified by single submitterX154563590
19.
IKBKGImmunodeficiency without anhidrotic ectodermal dysplasiaPathogenic/Likely pathogenic
(Mar 15, 2013)
classified by single submitter
20.
IKBKGHypohidrotic ectodermal dysplasia with immune deficiencyPathogenic/Likely pathogenic
(Sep 16, 2013)
classified by single submitter

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