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Items: 8

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CACNA1S
(R1239H)
Single nucleotide variant
(missense variant)
Malignant hyperthermia, susceptibility to, 5
+3 more
GConflicting classifications of pathogenicity
CACNA1S
(R1239G)
Single nucleotide variant
(missense variant)
Hypokalemic periodic paralysis, type 1
+2 more
GPathogenic
CACNA1S
(R900S)
Single nucleotide variant
(missense variant)
Malignant hyperthermia, susceptibility to, 5
+1 more
GLikely pathogenic
CACNA1S
(R897S)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
CACNA1S
(V876E)
Single nucleotide variant
(missense variant)
Hypokalemic periodic paralysis, type 1
GLikely pathogenic
CACNA1S
(R528H)
Single nucleotide variant
(missense variant)
Malignant hyperthermia, susceptibility to, 5
+3 more
GPathogenic
CACNA1S
(R528C)
Single nucleotide variant
(missense variant)
not provided
+3 more
GLikely pathogenic
CACNA1S
(R528G)
Single nucleotide variant
(missense variant)
Hypokalemic periodic paralysis, type 1
GPathogenic
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