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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CLN8
(N125S)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis 8
+5 more
GConflicting classifications of pathogenicity
CLN8
(E269V)
Single nucleotide variant
(missense variant)
not provided
+6 more
GConflicting classifications of pathogenicity