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Links from MedGen

Items: 21

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
IKBKG
(L122fs +1 more)
Deletion
(frameshift variant +1 more)
Incontinentia pigmenti syndrome
GLikely pathogenic
CMC4, CTAG1A
+200 more
Deletion
Ectodermal dysplasia and immunodeficiency 1
+5 more
GPathogenic
IKBKG
(R202G +4 more)
Single nucleotide variant
(missense variant +2 more)
Autoinflammatory disease, X-linked
+3 more
GUncertain significance
CTAG1A, IKBKG
Deletion
Incontinentia pigmenti syndrome
GPathogenic
IKBKG
(Q184* +4 more)
Single nucleotide variant
(nonsense +2 more)
not provided
+1 more
GPathogenic/Likely pathogenic
IKBKG
(Q188* +1 more)
Single nucleotide variant
(nonsense +1 more)
Incontinentia pigmenti syndrome
GPathogenic
IKBKG
Single nucleotide variant
(splice donor variant)
ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 1, MALE-RESTRICTED
+1 more
GPathogenic
IKBKG
Deletion
ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 1, MALE-RESTRICTED
+1 more
GPathogenic
G6PD, IKBKG
+1 more
(G43R)
Single nucleotide variant
(missense variant +1 more)
Immunodeficiency 33
+4 more
GUncertain significance
IKBKG
Single nucleotide variant
(intron variant)
Incontinentia pigmenti syndrome
+1 more
GPathogenic
IKBKG
Duplication
(splice acceptor variant +1 more)
Incontinentia pigmenti syndrome
+1 more
GPathogenic
IKBKG
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
IKBKG
(E390fs +5 more)
Duplication
(frameshift variant +1 more)
Ectodermal dysplasia and immunodeficiency 1
+3 more
GPathogenic
IKBKG
(D295fs +5 more)
Duplication
(frameshift variant +1 more)
Incontinentia pigmenti syndrome
GPathogenic
IKBKG
(D406V +5 more)
Single nucleotide variant
(missense variant +1 more)
ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 1, MALE-RESTRICTED
+1 more
GPathogenic
IKBKG
(R130* +1 more)
Single nucleotide variant
(nonsense +1 more)
not provided
GPathogenic
IKBKG
(E112fs +1 more)
Duplication
(frameshift variant +1 more)
Incontinentia pigmenti syndrome
GPathogenic
IKBKG
Single nucleotide variant
(stop lost +1 more)
ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 1, MALE-RESTRICTED
+1 more
GPathogenic
IKBKG
(M407V +5 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GConflicting classifications of pathogenicity
IKBKG
(A439fs +5 more)
Duplication
(frameshift variant +1 more)
not provided
GPathogenic
IKBKG, LOC107988021
Deletion
Incontinentia pigmenti syndrome
GPathogenic
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