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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
IFNGR1
(N233fs +2 more)
Deletion
(frameshift variant)
Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency
+7 more
GPathogenic
IFNGR1
Single nucleotide variant
(5 prime UTR variant)
Disseminated atypical mycobacterial infection
+2 more
GBenign
IFNAR2, IFNAR2-IL10RB
(F8S)
Single nucleotide variant
(missense variant)
Immunodeficiency 45
+2 more
GBenign
IFNAR2-IL10RB, IL10RB
(K47E)
Single nucleotide variant
(missense variant)
not specified
+1 more
GBenign
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