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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SAG
(R175*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
SAG
(R193*)
Single nucleotide variant
(nonsense)
Retinal dystrophy
+4 more
GPathogenic
SAG
(R292*)
Single nucleotide variant
(nonsense)
Oguchi disease-1
+2 more
GPathogenic
SAG
(E306*)
Single nucleotide variant
(nonsense)
Retinitis pigmentosa 47
GPathogenic
SAG
(N309fs)
Deletion
(frameshift variant)
Oguchi disease
+2 more
GPathogenic
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