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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130005097, PNPLA2
(T54R)
Single nucleotide variant
(missense variant)
Neutral lipid storage myopathy
GUncertain significance
PNPLA2
(H109R)
Single nucleotide variant
(missense variant)
Neutral lipid storage myopathy
GUncertain significance