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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SPEG, ASIC4-AS1
(I2324N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SPEG, ASIC4-AS1
(T3192N)
Single nucleotide variant
(missense variant)
Myopathy, centronuclear, 5
GUncertain significance