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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GH-LCR, SCN4A
(T1719S)
Single nucleotide variant
(missense variant)
Potassium-aggravated myotonia
GLikely pathogenic
SCN4A
(T163fs)
Insertion
(frameshift variant)
Potassium-aggravated myotonia
GLikely pathogenic