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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CCNF
(H69Y)
Single nucleotide variant
(missense variant +1 more)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 5
GUncertain significance
ABCA3, ADCY9
+159 more
Copy number gain
Chromosome 16p13.3 duplication syndrome
GPathogenic