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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PIEZO2
(Y2590* +1 more)
Single nucleotide variant
(nonsense)
Abnormality of the skeletal system
GPathogenic
PIEZO2
(T987I +1 more)
Single nucleotide variant
(missense variant)
Myopathy
GUncertain significance