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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PROM1
(R373C +1 more)
Single nucleotide variant
(missense variant)
Retinal dystrophy
+6 more
GPathogenic
PROM1
(Q67*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic