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Items: 20

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SCN4A, GH-LCR
(F1705I)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
GH-LCR, SCN4A
(V1589M)
Single nucleotide variant
(missense variant)
Hypokalemic periodic paralysis, type 2
+3 more
GPathogenic
GH-LCR, SCN4A
(G1500S)
Single nucleotide variant
(missense variant)
Congenital myasthenic syndrome 16
GUncertain significance
SCN4A, GH-LCR
(I1462M)
Single nucleotide variant
(missense variant)
Congenital myasthenic syndrome 16
+6 more
GUncertain significance
GH-LCR, SCN4A
(R1448H)
Single nucleotide variant
(missense variant)
not provided
+3 more
GPathogenic
GH-LCR, SCN4A
(T1313M)
Single nucleotide variant
(missense variant)
Hyperkalemic periodic paralysis
+7 more
GPathogenic
GH-LCR, SCN4A
(G1306A)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
GH-LCR, SCN4A
(G1306V)
Single nucleotide variant
(missense variant)
Paramyotonia congenita of Von Eulenburg
+2 more
GPathogenic
GH-LCR, SCN4A
(K1302Q)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
GH-LCR, SCN4A
(L1235F)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
GH-LCR, SCN4A
(A1156T)
Single nucleotide variant
(missense variant)
Hyperkalemic periodic paralysis
+9 more
GPathogenic/Likely pathogenic
GH-LCR, SCN4A
(R1132Q)
Single nucleotide variant
(missense variant)
not specified
+3 more
GPathogenic
GH-LCR, SCN4A
(V999L)
Single nucleotide variant
(missense variant)
Hyperkalemic periodic paralysis
GUncertain significance
GH-LCR, SCN4A
(D969N)
Single nucleotide variant
(missense variant)
Hyperkalemic periodic paralysis
+1 more
GUncertain significance
GH-LCR, SCN4A
(T937P)
Single nucleotide variant
(missense variant)
Paramyotonia congenita of Von Eulenburg
+2 more
GUncertain significance
GH-LCR, SCN4A
(T704M)
Single nucleotide variant
(missense variant)
Hyperkalemic periodic paralysis
+8 more
GPathogenic
GH-LCR, SCN4A
(R675G)
Single nucleotide variant
(missense variant)
Hyperkalemic periodic paralysis
+2 more
GPathogenic/Likely pathogenic
SCN4A
(L433R)
Single nucleotide variant
(missense variant)
Paramyotonia congenita of Von Eulenburg
GUncertain significance
SCN4A
(C145*)
Single nucleotide variant
(nonsense)
Congenital myasthenic syndrome 16
GLikely pathogenic
SCN4A
(R122C)
Single nucleotide variant
(missense variant)
Paramyotonia congenita of Von Eulenburg
+5 more
GConflicting classifications of pathogenicity
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