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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GH-LCR, SCN4A
(T1313M)
Single nucleotide variant
(missense variant)
not provided
+8 more
GPathogenic
SCN4A
(H599R)
Single nucleotide variant
(missense variant)
not provided
+5 more
GConflicting classifications of pathogenicity
SCN4A
(R3T)
Single nucleotide variant
(missense variant)
Familial hyperkalemic periodic paralysis
+5 more
GUncertain significance
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