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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CACNA1C
(G329S +1 more)
Single nucleotide variant
(missense variant)
Long QT syndrome
+6 more
GUncertain significance
CACNA1C
(G406R)
Single nucleotide variant
(missense variant +1 more)
Timothy syndrome
+1 more
GPathogenic
CACNA1C
(E850del +1 more)
Microsatellite
(inframe_deletion)
Cardiovascular phenotype
+3 more
GConflicting classifications of pathogenicity
CACNA1C
(R860P +1 more)
Single nucleotide variant
(missense variant)
Long QT syndrome
+2 more
GConflicting classifications of pathogenicity
CACNA1C, CACNA1C-AS1
(A1717G +10 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+7 more
GConflicting classifications of pathogenicity
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