U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 33

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GH-LCR, SCN4A
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
GH-LCR, SCN4A
(S1789L)
Single nucleotide variant
(missense variant)
not provided
+6 more
GUncertain significance
GH-LCR, SCN4A
Single nucleotide variant
(synonymous variant)
Hypokalemic periodic paralysis, type 2
+6 more
GBenign
GH-LCR, SCN4A
(V1564I)
Single nucleotide variant
(missense variant)
SCN4A-related condition
+7 more
GConflicting classifications of pathogenicity
GH-LCR, SCN4A
Single nucleotide variant
(synonymous variant)
Hypokalemic periodic paralysis, type 2
+6 more
GBenign
SCN4A, GH-LCR
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
GH-LCR, SCN4A
(R1448C)
Single nucleotide variant
(missense variant)
not provided
+3 more
GPathogenic
GH-LCR, SCN4A
(N1376D)
Single nucleotide variant
(missense variant)
Hypokalemic periodic paralysis, type 2
+6 more
GBenign
GH-LCR, SCN4A
(G1306A)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
GH-LCR, SCN4A
(F1298C)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
GH-LCR, SCN4A
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
GH-LCR, SCN4A
(R1129Q)
Single nucleotide variant
(missense variant)
not provided
+5 more
GConflicting classifications of pathogenicity
GH-LCR, SCN4A
Single nucleotide variant
(intron variant)
not specified
+5 more
GBenign
GH-LCR, SCN4A
(D1069N)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
GH-LCR, SCN4A
(T937P)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
SCN4A, GH-LCR
(N916K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
GH-LCR, SCN4A
(E908K)
Single nucleotide variant
(missense variant)
Congenital myasthenic syndrome 16
+6 more
GBenign/Likely benign
GH-LCR, SCN4A
Single nucleotide variant
(synonymous variant)
not provided
+1 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
Single nucleotide variant
(synonymous variant)
not specified
+5 more
GBenign
GH-LCR, SCN4A
Single nucleotide variant
(synonymous variant)
SCN4A-related condition
+6 more
GConflicting classifications of pathogenicity
GH-LCR, SCN4A
(V781I)
Single nucleotide variant
(missense variant)
Hypokalemic periodic paralysis, type 1
+8 more
GBenign/Likely benign
GH-LCR, SCN4A
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
SCN4A
Single nucleotide variant
(intron variant)
not specified
+1 more
GBenign
SCN4A
(S524G)
Single nucleotide variant
(missense variant)
not specified
+5 more
GBenign
SCN4A
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
SCN4A
Single nucleotide variant
(intron variant)
not specified
+7 more
GBenign/Likely benign
SCN4A
Single nucleotide variant
(synonymous variant)
Hyperkalemic periodic paralysis
+5 more
GBenign
SCN4A
(T323M)
Single nucleotide variant
(missense variant)
not provided
+7 more
GBenign/Likely benign
SCN4A
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign/Likely benign
SCN4A
Deletion
(intron variant)
not specified
+1 more
GBenign
SCN4A
(D185N)
Single nucleotide variant
(missense variant)
Congenital myasthenic syndrome 16
+5 more
GConflicting classifications of pathogenicity
SCN4A
Single nucleotide variant
(intron variant)
SCN4A-related condition
+2 more
GConflicting classifications of pathogenicity
Format
Items per page
Sort by
Choose Destination