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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RORC
(Q441* +1 more)
Single nucleotide variant
(nonsense)
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
GPathogenic
RORC
(Q329* +1 more)
Single nucleotide variant
(nonsense)
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
GPathogenic
RORC
(S38L +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
GPathogenic
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