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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
USH2A
(W3955*)
Single nucleotide variant
(nonsense)
Usher syndrome
+11 more
GPathogenic
USH2A
(C3090*)
Single nucleotide variant
(nonsense)
Rod-cone dystrophy
+4 more
GPathogenic
PDE6B, PDE6B-AS1
(C270*)
Single nucleotide variant
(nonsense +1 more)
Retinal dystrophy
+3 more
GPathogenic
GPHN, RDH12
(T155I)
Single nucleotide variant
(missense variant)
Cone-rod dystrophy
+4 more
GPathogenic
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