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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PPT1
(R151* +1 more)
Single nucleotide variant
(nonsense)
PPT1-related condition
+5 more
GPathogenic/Likely pathogenic
PPT1
(Q116fs)
Deletion
(frameshift variant +1 more)
not provided
GPathogenic