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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
USH1C
Single nucleotide variant
(splice donor variant)
not provided
+3 more
GPathogenic
USH1C
(R80fs)
Duplication
(frameshift variant +1 more)
Usher syndrome
+6 more
GPathogenic
USH1C
Single nucleotide variant
(synonymous variant +1 more)
Rare genetic deafness
+5 more
GPathogenic
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