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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
IRF8
(A201V +1 more)
Single nucleotide variant
(missense variant +1 more)
Immunodeficiency 32B
+3 more
GConflicting classifications of pathogenicity
IRF8
(P224L +2 more)
Single nucleotide variant
(missense variant)
Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
+1 more
GUncertain significance
IRF8
(V287M +2 more)
Single nucleotide variant
(missense variant)
Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
+1 more
GUncertain significance
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