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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TOE1
(T355fs)
Deletion
(frameshift variant)
Pontocerebellar hypoplasia type 7
GLikely pathogenic
TOE1
(S490N)
Single nucleotide variant
(missense variant)
Pontocerebellar hypoplasia type 7
GUncertain significance