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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SPEG
(D140N)
Single nucleotide variant
(missense variant)
Myopathy, centronuclear, 5
GUncertain significance
ASIC4-AS1, SPEG
(G1966A)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance