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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ATL1
(A354V)
Single nucleotide variant
(missense variant)
Limb-girdle muscular dystrophy
GUncertain significance
FKRP
(L276I)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+19 more
GPathogenic/Likely pathogenic