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Links from MedGen

Items: 23

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
G6PD, IKBKG
+1 more
(R50C)
Single nucleotide variant
(missense variant +1 more)
IKBKG-related condition
+1 more
GLikely benign
IDH3G, PDZD4
+200 more
Deletion
Immunodeficiency 33
+5 more
GPathogenic
IKBKG
(R202G +4 more)
Single nucleotide variant
(missense variant +2 more)
Autoinflammatory disease, X-linked
+3 more
GUncertain significance
IKBKG
Single nucleotide variant
(intron variant)
Immunodeficiency 33
+1 more
GUncertain significance
LOC108281126, G6PD
+1 more
(G43R)
Single nucleotide variant
(missense variant +1 more)
Autoinflammatory disease, X-linked
+4 more
GUncertain significance
IKBKG
(R62Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
IKBKG
(E390fs +5 more)
Duplication
(frameshift variant +1 more)
Ectodermal dysplasia and immunodeficiency 1
+3 more
GPathogenic
IKBKG
(D311N +5 more)
Single nucleotide variant
(missense variant +1 more)
Ectodermal dysplasia and immunodeficiency 1
GLikely pathogenic
IKBKG
(D113N +1 more)
Single nucleotide variant
(missense variant +1 more)
Ectodermal dysplasia and immunodeficiency 1
+1 more
GBenign/Likely benign
IKBKG
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
IKBKG
(Q157P +2 more)
Single nucleotide variant
(missense variant +1 more)
Ectodermal dysplasia and immunodeficiency 1
GLikely pathogenic
IKBKG
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
IKBKG
(E89del +1 more)
Microsatellite
(inframe_deletion +1 more)
Ectodermal dysplasia and immunodeficiency 1
GLikely pathogenic
IKBKG
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
IKBKG
(A288G +4 more)
Single nucleotide variant
(missense variant +2 more)
Ectodermal dysplasia and immunodeficiency 1
GPathogenic
IKBKG
(A228fs +5 more)
Duplication
(frameshift variant +1 more)
Ectodermal dysplasia and immunodeficiency 1
GPathogenic
IKBKG
Single nucleotide variant
(intron variant)
Ectodermal dysplasia and immunodeficiency 1
GPathogenic
IKBKG
(Q403* +5 more)
Single nucleotide variant
(nonsense +1 more)
Ectodermal dysplasia and immunodeficiency 1
GPathogenic
IKBKG
(L153R +2 more)
Single nucleotide variant
(missense variant +1 more)
Ectodermal dysplasia and immunodeficiency 1
GPathogenic
IKBKG
Duplication
Ectodermal dysplasia and immunodeficiency 1
GPathogenic
IKBKG
(C417F +5 more)
Single nucleotide variant
(missense variant +1 more)
Ectodermal dysplasia and immunodeficiency 1
GPathogenic
IKBKG
(C417R +5 more)
Single nucleotide variant
(missense variant +1 more)
Ectodermal dysplasia and immunodeficiency 1
GPathogenic
IKBKG
(E391* +5 more)
Single nucleotide variant
(nonsense +1 more)
not provided
GPathogenic
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