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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CRYAB
(F14S)
Single nucleotide variant
(missense variant)
Myofibrillar myopathy 2
+2 more
GUncertain significance
ACER3, ACP2
+904 more
Deletion
Intellectual disability
GPathogenic