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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CACNA1S
(R1539C)
Single nucleotide variant
(missense variant)
Hypokalemic periodic paralysis, type 1
+5 more
GBenign
CACNA1S
(R1239H)
Single nucleotide variant
(missense variant)
Malignant hyperthermia, susceptibility to, 5
+3 more
GConflicting classifications of pathogenicity
CACNA1S
(K88E)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
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