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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130055387, NRL
Single nucleotide variant
(stop lost)
Retinitis pigmentosa
GUncertain significance
LOC130055387, NRL
(Q182* +1 more)
Single nucleotide variant
(nonsense)
not provided
GConflicting classifications of pathogenicity
NRL
(Q80*)
Single nucleotide variant
(nonsense +1 more)
Retinitis pigmentosa
GPathogenic
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