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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GH-LCR, SCN4A
(M1501V)
Single nucleotide variant
(missense variant)
Hypokalemic periodic paralysis, type 2
GUncertain significance
GH-LCR, SCN4A
(V1401M)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
GH-LCR, SCN4A
(G1306E)
Single nucleotide variant
(missense variant)
Hyperkalemic periodic paralysis
+6 more
GPathogenic
SCN4A
(R672C)
Single nucleotide variant
(missense variant)
Hypokalemic periodic paralysis, type 2
+2 more
GPathogenic
SCN4A
(T512A)
Single nucleotide variant
(missense variant)
Paramyotonia congenita of Von Eulenburg
GUncertain significance
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