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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GPHN, RDH12
(R62*)
Single nucleotide variant
(nonsense)
not provided
+3 more
GPathogenic
GPHN, RDH12
(R95W)
Single nucleotide variant
(missense variant)
Retinitis Pigmentosa, Recessive
+3 more
GConflicting classifications of pathogenicity
GPHN, RDH12
(L99I)
Single nucleotide variant
(missense variant)
not provided
+3 more
GPathogenic/Likely pathogenic
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