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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AGTPBP1
(R759L +3 more)
Single nucleotide variant
(missense variant)
Neurodegeneration, childhood-onset, with cerebellar atrophy
GLikely pathogenic
AGTPBP1
(R374* +3 more)
Single nucleotide variant
(nonsense)
Neurodegeneration, childhood-onset, with cerebellar atrophy
GPathogenic