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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CASQ1
(E192Q)
Single nucleotide variant
(missense variant)
Myopathy due to calsequestrin and SERCA1 protein overload
+2 more
GUncertain significance
CASQ1
(D279E)
Single nucleotide variant
(missense variant)
Myopathy due to calsequestrin and SERCA1 protein overload
GUncertain significance