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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CASQ2
(D307H)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia 2
GPathogenic
CASQ2
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia 2
GUncertain significance
CASQ2
(R33*)
Single nucleotide variant
(nonsense)
Catecholaminergic polymorphic ventricular tachycardia 1
+3 more
GPathogenic/Likely pathogenic
CASQ2
(E21fs)
Deletion
(frameshift variant)
Catecholaminergic polymorphic ventricular tachycardia 2
+1 more
GPathogenic
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