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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RPGRIP1L
(D1225fs +3 more)
Insertion
(frameshift variant)
not provided
+3 more
GConflicting classifications of pathogenicity
RPGRIP1L
(P964fs)
Deletion
(frameshift variant)
Joubert syndrome 7
GLikely pathogenic