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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
IL12RB1
(G378R +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign
IL12RB1
(M365T +1 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign
IL12RB1
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign
IL12RB1
(Q214R +1 more)
Single nucleotide variant
(missense variant)
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
+3 more
GBenign/Likely benign
IL12RB1
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign
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