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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
USH1G
Single nucleotide variant
(intron variant)
not provided
+1 more
GPathogenic/Likely pathogenic
USH1G
(A8P)
Single nucleotide variant
(5 prime UTR variant +1 more)
Usher syndrome type 1G
GUncertain significance