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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NR2E3
Single nucleotide variant
(splice acceptor variant)
not specified
+11 more
GPathogenic/Likely pathogenic
NR2E3
(V118L)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 37
GUncertain significance