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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ADGRV1
(Q613K)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GConflicting classifications of pathogenicity
ADGRV1
(E1064A)
Single nucleotide variant
(missense variant +1 more)
Usher syndrome type 2C
+4 more
GConflicting classifications of pathogenicity
ADGRV1
(T4788I)
Single nucleotide variant
(missense variant +1 more)
Usher syndrome type 2C
GUncertain significance
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