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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NHLRC2
(D148Y)
Single nucleotide variant
(missense variant)
Fibrosis, neurodegeneration, and cerebral angiomatosis
+1 more
GPathogenic
ABLIM1, ABRAXAS2
+201 more
Copy number gain
See cases
GPathogenic