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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RERE
(Q354* +1 more)
Indel
(nonsense)
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
GLikely pathogenic
RERE
(R117fs)
Deletion
(frameshift variant)
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
GLikely pathogenic