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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GH-LCR, SCN4A
(R1457C)
Single nucleotide variant
(missense variant)
Familial hyperkalemic periodic paralysis
+1 more
GUncertain significance
GH-LCR, SCN4A
(K1302Q)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
GH-LCR, SCN4A
(S1159P)
Single nucleotide variant
(missense variant)
Potassium-aggravated myotonia
GLikely pathogenic
GH-LCR, SCN4A
(T704M)
Single nucleotide variant
(missense variant)
not provided
+8 more
GPathogenic
SCN4A
(S134R)
Single nucleotide variant
(missense variant)
Paramyotonia congenita of Von Eulenburg
GUncertain significance
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