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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ROBO1
(W452* +1 more)
Single nucleotide variant
(nonsense)
ROBO1-related disorder
GLikely pathogenic
ROBO1
(R322H +1 more)
Single nucleotide variant
(missense variant)
Neurooculorenal syndrome
+1 more
GLikely benign