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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CACNA1C
(A815fs +1 more)
Deletion
(frameshift variant)
Timothy syndrome
GLikely pathogenic
CACNA1C, CACNA1C-AS1
(R1850K +1 more)
Single nucleotide variant
(missense variant +1 more)
Timothy syndrome
GUncertain significance