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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CACNA1C
(P461S +1 more)
Single nucleotide variant
(missense variant)
Long qt syndrome 8
GUncertain significance
CACNA1C
(E786Q +1 more)
Single nucleotide variant
(missense variant)
Long qt syndrome 8
GUncertain significance
CACNA1C
(T1306S +4 more)
Single nucleotide variant
(missense variant +1 more)
Long qt syndrome 8
+1 more
GUncertain significance
CACNA1C, CACNA1C-AS1
(T1999I +13 more)
Single nucleotide variant
(missense variant)
Timothy syndrome
+4 more
GConflicting classifications of pathogenicity
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