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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CLN3
(R405W +4 more)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis 3
+4 more
GConflicting classifications of pathogenicity
CLN3
Deletion
(splice acceptor variant +1 more)
Retinitis pigmentosa
+1 more
GPathogenic