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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
USH2A
(R4674G)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
USH2A
(C3307W)
Single nucleotide variant
(missense variant)
Usher syndrome
GUncertain significance
USH2A-AS1, USH2A
(G1301V)
Single nucleotide variant
Usher syndrome
GBenign
USH2A
(E767fs)
Deletion
(frameshift variant)
Rare genetic deafness
+23 more
GConflicting classifications of pathogenicity
USH2A
(C759F)
Single nucleotide variant
(missense variant)
Usher syndrome
GPathogenic
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