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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
USH2A
(E767fs)
Deletion
(frameshift variant)
Retinitis pigmentosa
+22 more
GConflicting classifications of pathogenicity
BLOC1S1-RDH5, CD63
+1 more
(G238W)
Single nucleotide variant
(non-coding transcript variant +1 more)
RDH5-related disorder
+4 more
GPathogenic/Likely pathogenic
BLOC1S1-RDH5, CD63
+1 more
(R280H)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+2 more
GPathogenic/Likely pathogenic
RLBP1
(R121Q)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
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