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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CACNA1C
(G406R +1 more)
Single nucleotide variant
(missense variant +1 more)
Timothy syndrome
+7 more
GPathogenic
CACNA1C
Single nucleotide variant
(synonymous variant)
Long QT syndrome
+1 more
GConflicting classifications of pathogenicity
CACNA1C, CACNA1C-AS1
(S1812N +10 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
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