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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CAPN3
(T599fs +1 more)
Duplication
(frameshift variant +2 more)
Abnormality of the musculature
+3 more
GPathogenic
CAPN3
(R748Q +4 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2A
+3 more
GPathogenic/Likely pathogenic