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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RORC
(S512* +1 more)
Single nucleotide variant
(nonsense)
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
GUncertain significance
RORC
(R10*)
Single nucleotide variant
(nonsense)
RORC-related disorder
+1 more
GLikely benign