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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ADGRV1
(G2379R)
Single nucleotide variant
(missense variant +1 more)
Febrile seizures, familial, 4
GUncertain significance
ADGRV1
(Y5840fs)
Deletion
(frameshift variant +1 more)
Usher syndrome type 2C
GLikely pathogenic