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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ESPN
(S342F)
Single nucleotide variant
(missense variant)
Usher syndrome, type 1M
+2 more
GUncertain significance
ESPN
(N717S +2 more)
Single nucleotide variant
(missense variant)
Sensorineural hearing loss disorder
+1 more
GUncertain significance