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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC101927157, CNGA1
(R420Q)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa
+2 more
GConflicting classifications of pathogenicity
CNGA1, LOC101927157
(L85fs)
Deletion
(frameshift variant)
Retinal dystrophy
+3 more
GPathogenic
CNGA1, LOC101927157
(G60fs)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic
CNGB1
(P530R +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
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