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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
USH1C
(Q187fs)
Deletion
(frameshift variant +1 more)
Retinal dystrophy
GLikely pathogenic
USH1C
(V164fs)
Deletion
(frameshift variant +1 more)
Retinal dystrophy
+1 more
GPathogenic/Likely pathogenic
USH1C
(R80fs)
Duplication
(frameshift variant +1 more)
Usher syndrome
+6 more
GPathogenic
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