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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PPT1
(R151* +1 more)
Single nucleotide variant
(nonsense)
Neuronal Ceroid-Lipofuscinosis, Recessive
+5 more
GPathogenic/Likely pathogenic
PPT1
(R122W)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GPathogenic