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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PCARE
(W1001*)
Single nucleotide variant
(nonsense)
PCARE-related condition
+5 more
GPathogenic/Likely pathogenic
PCARE
(W253*)
Single nucleotide variant
(nonsense)
Retinal dystrophy
GPathogenic