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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GH-LCR, SCN4A
(A1801T)
Single nucleotide variant
(missense variant)
Potassium-aggravated myotonia
+5 more
GConflicting classifications of pathogenicity
GH-LCR, SCN4A
(R1448H)
Single nucleotide variant
(missense variant)
not provided
+3 more
GPathogenic
SCN4A
(E452K)
Single nucleotide variant
(missense variant)
Hyperkalemic periodic paralysis
+6 more
GConflicting classifications of pathogenicity
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