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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AGTPBP1
(Q274fs +1 more)
Deletion
(frameshift variant)
Neurodegeneration, childhood-onset, with cerebellar atrophy
GPathogenic
IFNA16, NTRK2
+326 more
Inversion
Recurrent spontaneous abortion
+1 more
GLikely pathogenic