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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NHS
(N1022fs +3 more)
Duplication
(frameshift variant)
Nance-Horan syndrome
GPathogenic/Likely pathogenic
NHS
(E1115fs +3 more)
Deletion
(frameshift variant)
Nance-Horan syndrome
GLikely pathogenic