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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NEXMIF
(R461H)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
NEXMIF
(E117*)
Duplication
(nonsense)
X-linked intellectual disability, Cantagrel type
GPathogenic