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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HESX1
(R159W)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
HESX1
(V129I)
Single nucleotide variant
(missense variant)
Septo-optic dysplasia sequence
+3 more
GConflicting classifications of pathogenicity