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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TPP1
(R208*)
Single nucleotide variant
(nonsense)
Abnormality of the nervous system
+6 more
GPathogenic
TPP1
Single nucleotide variant
(splice acceptor variant)
not provided
+5 more
GPathogenic