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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CDH23, CDH23-AS1
Deletion
(genic upstream transcript variant)
Usher syndrome type 1D
GPathogenic
CDH23
(A366T)
Single nucleotide variant
(missense variant)
Nonsyndromic genetic hearing loss
+4 more
GConflicting classifications of pathogenicity
CDH23
Single nucleotide variant
(intron variant)
Usher syndrome
GUncertain significance
CDH23, C10orf105
(G1118fs)
Deletion
(3 prime UTR variant +1 more)
Usher syndrome type 1D
GPathogenic
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