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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ADGRV1
Deletion
Usher syndrome type 2C
GPathogenic
ADGRV1
Single nucleotide variant
(synonymous variant +1 more)
Usher syndrome type 2C
GLikely pathogenic
ADGRV1
(G3476R)
Single nucleotide variant
(missense variant +1 more)
Usher syndrome type 2C
GConflicting classifications of pathogenicity
ADGRV1
(S4772*)
Single nucleotide variant
(nonsense +1 more)
Usher syndrome type 2C
GLikely pathogenic
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