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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PPT1
(I302V +2 more)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis 1
+3 more
GConflicting classifications of pathogenicity
PPT1
(N110S)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GConflicting classifications of pathogenicity