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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CACNA1S
(Q765*)
Single nucleotide variant
(nonsense)
Hypokalemic periodic paralysis, type 1
GLikely pathogenic
CACNA1S
(A574T)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
CACNA1S
(P310R)
Single nucleotide variant
(missense variant)
Hypokalemic periodic paralysis, type 1
+1 more
GUncertain significance
CACNA1S
(T248M)
Single nucleotide variant
(missense variant)
Hypokalemic periodic paralysis, type 1
+2 more
GConflicting classifications of pathogenicity
CACNA1S
(I61fs)
Deletion
(frameshift variant)
Hypokalemic periodic paralysis, type 1
GLikely pathogenic
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