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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ADGRV1
(D1301Y)
Single nucleotide variant
(missense variant +1 more)
Usher syndrome type 2C
GUncertain significance
ADGRV1
Single nucleotide variant
(splice donor variant)
not provided
+1 more
GLikely pathogenic
ADGRV1
(G4447D)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
ADGRV1
(L6028F)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
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