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Items: 27

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GH-LCR, SCN4A
(M1592V)
Single nucleotide variant
(missense variant)
Congenital myasthenic syndrome 16
+6 more
GPathogenic
GH-LCR, SCN4A
(M1493I +1 more)
Single nucleotide variant
(missense variant)
Hyperkalemic periodic paralysis
GPathogenic
GH-LCR, SCN4A
(R1454W)
Single nucleotide variant
(missense variant)
Congenital myasthenic syndrome 16
+1 more
GConflicting classifications of pathogenicity
SCN4A, GH-LCR
(R1448P)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
GH-LCR, SCN4A
(R1448H)
Single nucleotide variant
(missense variant)
not provided
+3 more
GPathogenic
GH-LCR, SCN4A
(R1448S)
Single nucleotide variant
(missense variant)
Hyperkalemic periodic paralysis
Gnot provided
GH-LCR, SCN4A
(R1448C)
Single nucleotide variant
(missense variant)
not provided
+3 more
GPathogenic
GH-LCR, SCN4A
(V1442E)
Single nucleotide variant
(missense variant)
Congenital myasthenic syndrome 16
GPathogenic
GH-LCR, SCN4A
(M1370V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
GH-LCR, SCN4A
(R1135H)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic
GH-LCR, SCN4A
(R1132Q)
Single nucleotide variant
(missense variant)
not specified
+3 more
GPathogenic
GH-LCR, SCN4A
(R1129Q)
Single nucleotide variant
(missense variant)
not provided
+5 more
GConflicting classifications of pathogenicity
GH-LCR, SCN4A
(S906T)
Single nucleotide variant
(missense variant)
Hypokalemic periodic paralysis, type 1
+6 more
GBenign/Likely benign
GH-LCR, SCN4A
(V781I)
Single nucleotide variant
(missense variant)
Hypokalemic periodic paralysis, type 1
+8 more
GBenign/Likely benign
GH-LCR, SCN4A
(L689I)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
GH-LCR, SCN4A
(R675Q)
Single nucleotide variant
(missense variant)
Congenital myasthenic syndrome 16
+4 more
GPathogenic
GH-LCR, SCN4A
(R675G)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
GH-LCR, SCN4A
(R675W)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
SCN4A
(R672H)
Single nucleotide variant
(missense variant)
Congenital myasthenic syndrome 16
+7 more
GConflicting classifications of pathogenicity
SCN4A
(R672C)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
SCN4A
(R672S)
Single nucleotide variant
(missense variant)
Hyperkalemic periodic paralysis
GPathogenic
SCN4A
(R672G)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
SCN4A
(R669H)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
SCN4A
(T323M)
Single nucleotide variant
(missense variant)
not provided
+7 more
GBenign/Likely benign
SCN4A
(S246L)
Single nucleotide variant
(missense variant)
Hyperkalemic periodic paralysis
GUncertain significance
SCN4A
(R222G)
Single nucleotide variant
(missense variant)
Hypokalemic periodic paralysis, type 2
Gnot provided
SCN4A
(R222W)
Single nucleotide variant
(missense variant)
SCN4A-related condition
+7 more
GPathogenic/Likely pathogenic
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