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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RNF216
(R334T +1 more)
Single nucleotide variant
(missense variant)
Cerebellar ataxia-hypogonadism syndrome
GUncertain significance
RNF216
(D36E)
Single nucleotide variant
(missense variant)
Cerebellar ataxia-hypogonadism syndrome
GUncertain significance
PNPLA6
(Q487P +3 more)
Single nucleotide variant
(missense variant)
Cerebellar ataxia-hypogonadism syndrome
GUncertain significance
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