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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RNF216
(Q274* +1 more)
Single nucleotide variant
(nonsense)
Cerebellar ataxia-hypogonadism syndrome
GPathogenic
RNF216
Copy number loss
Cerebellar ataxia-hypogonadism syndrome
GPathogenic