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Links from MedGen

Items: 1 to 100 of 410

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GH-LCR, SCN4A
(R1135P)
Single nucleotide variant
(missense variant)
Potassium-aggravated myotonia
GUncertain significance
GH-LCR, SCN4A
(S1159P)
Single nucleotide variant
(missense variant)
Potassium-aggravated myotonia
GLikely pathogenic
RANBP2
(E805D)
Single nucleotide variant
(missense variant)
Paramyotonia congenita of Von Eulenburg
+4 more
GUncertain significance
GH-LCR, SCN4A
(A968D)
Single nucleotide variant
(missense variant)
Paramyotonia congenita of Von Eulenburg
+4 more
GUncertain significance
SCN4A
Single nucleotide variant
(intron variant)
Familial hyperkalemic periodic paralysis
+5 more
GLikely benign
SCN4A
Deletion
(intron variant)
Familial hyperkalemic periodic paralysis
+5 more
GLikely benign
SCN4A
Single nucleotide variant
(intron variant)
Paramyotonia congenita of Von Eulenburg
+5 more
GLikely benign
GH-LCR, SCN4A
Single nucleotide variant
(synonymous variant)
Congenital myasthenic syndrome 16
+5 more
GLikely benign
GH-LCR, SCN4A
Single nucleotide variant
(intron variant)
Congenital myasthenic syndrome 16
+5 more
GLikely benign
GH-LCR, SCN4A
Single nucleotide variant
(intron variant)
Hypokalemic periodic paralysis, type 1
+5 more
GLikely benign
GH-LCR, SCN4A
Single nucleotide variant
(synonymous variant)
Hypokalemic periodic paralysis, type 2
+5 more
GLikely benign
SCN4A
Single nucleotide variant
(intron variant)
Familial hyperkalemic periodic paralysis
+5 more
GLikely benign
SCN4A
Single nucleotide variant
(intron variant)
Familial hyperkalemic periodic paralysis
+5 more
GBenign/Likely benign
SCN4A
Single nucleotide variant
(synonymous variant)
Paramyotonia congenita of Von Eulenburg
+5 more
GLikely benign
GH-LCR, SCN4A
Single nucleotide variant
(synonymous variant)
Congenital myasthenic syndrome 16
+5 more
GLikely benign
GH-LCR, SCN4A
Single nucleotide variant
(synonymous variant)
Familial hyperkalemic periodic paralysis
+5 more
GLikely benign
GH-LCR, SCN4A
Single nucleotide variant
(intron variant)
Potassium-aggravated myotonia
+5 more
GLikely benign
SCN4A
Single nucleotide variant
(intron variant)
Hypokalemic periodic paralysis, type 2
+5 more
GLikely benign
GH-LCR, SCN4A
Single nucleotide variant
(intron variant)
Familial hyperkalemic periodic paralysis
+5 more
GLikely benign
SCN4A
(R179Q)
Single nucleotide variant
(missense variant)
Paramyotonia congenita of Von Eulenburg
+6 more
GUncertain significance
GH-LCR, SCN4A
(K1832R)
Single nucleotide variant
(missense variant)
Potassium-aggravated myotonia
+5 more
GUncertain significance
SCN4A
(L256F)
Single nucleotide variant
(missense variant)
Potassium-aggravated myotonia
+6 more
GUncertain significance
SCN4A
(M403V)
Single nucleotide variant
(missense variant)
Familial hyperkalemic periodic paralysis
+5 more
GUncertain significance
GH-LCR, SCN4A
(P1124H)
Single nucleotide variant
(missense variant)
Hypokalemic periodic paralysis, type 1
+6 more
GUncertain significance
SCN4A
(R22W)
Single nucleotide variant
(missense variant)
Familial hyperkalemic periodic paralysis
+5 more
GUncertain significance
GH-LCR, SCN4A
(A1465S)
Single nucleotide variant
(missense variant)
Familial hyperkalemic periodic paralysis
+5 more
GUncertain significance
GH-LCR, SCN4A
(T1804A)
Single nucleotide variant
(missense variant)
Familial hyperkalemic periodic paralysis
+6 more
GUncertain significance
GH-LCR, SCN4A
(G834S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+7 more
GConflicting classifications of pathogenicity
SCN4A
(P153L)
Single nucleotide variant
(missense variant)
Paramyotonia congenita of Von Eulenburg
+6 more
GUncertain significance
SCN4A
(L227F)
Single nucleotide variant
(missense variant)
Paramyotonia congenita of Von Eulenburg
+6 more
GUncertain significance
SCN4A
(N355S)
Single nucleotide variant
(missense variant)
Hypokalemic periodic paralysis, type 1
+6 more
GUncertain significance
GH-LCR, SCN4A
(D1759N)
Single nucleotide variant
(missense variant)
Familial hyperkalemic periodic paralysis
+6 more
GUncertain significance
SCN4A
(V428L)
Single nucleotide variant
(missense variant)
Hypokalemic periodic paralysis, type 1
+5 more
GUncertain significance
SCN4A
Single nucleotide variant
(intron variant)
Hypokalemic periodic paralysis, type 1
+5 more
GUncertain significance
SCN4A
(M625T)
Single nucleotide variant
(missense variant)
Familial hyperkalemic periodic paralysis
+5 more
GUncertain significance
GH-LCR, SCN4A
(R1013C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+7 more
GUncertain significance
GH-LCR, SCN4A
(M1805I)
Single nucleotide variant
(missense variant)
Hypokalemic periodic paralysis, type 1
+6 more
GUncertain significance
SCN4A
(P192S)
Single nucleotide variant
(missense variant)
Familial hyperkalemic periodic paralysis
+5 more
GUncertain significance
GH-LCR, SCN4A
(Q955K)
Single nucleotide variant
(missense variant)
Familial hyperkalemic periodic paralysis
+5 more
GUncertain significance
SCN4A
(G61S)
Single nucleotide variant
(missense variant)
Familial hyperkalemic periodic paralysis
+5 more
GUncertain significance
GH-LCR, SCN4A
(S1746F)
Single nucleotide variant
(missense variant)
Potassium-aggravated myotonia
+5 more
GUncertain significance
SCN4A
(L64V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+7 more
GUncertain significance
GH-LCR, SCN4A
(P904Q)
Single nucleotide variant
(missense variant)
Potassium-aggravated myotonia
+5 more
GUncertain significance
SCN4A
(H605Y)
Single nucleotide variant
(missense variant)
Potassium-aggravated myotonia
+5 more
GUncertain significance
GH-LCR, SCN4A
(P1822H)
Single nucleotide variant
(missense variant)
Familial hyperkalemic periodic paralysis
+5 more
GUncertain significance
SCN4A
(V667M)
Single nucleotide variant
(missense variant)
Potassium-aggravated myotonia
+5 more
GUncertain significance
GH-LCR, SCN4A
(V1423I)
Single nucleotide variant
(missense variant)
Familial hyperkalemic periodic paralysis
+5 more
GUncertain significance
GH-LCR, SCN4A
(A997V)
Single nucleotide variant
(missense variant)
Familial hyperkalemic periodic paralysis
+5 more
GUncertain significance
GH-LCR, SCN4A
(P1550S)
Single nucleotide variant
(missense variant)
not provided
+6 more
GUncertain significance
SCN4A
(G515R)
Single nucleotide variant
(missense variant)
Hypokalemic periodic paralysis, type 1
+6 more
GUncertain significance
SCN4A
(R31W)
Single nucleotide variant
(missense variant)
Hypokalemic periodic paralysis, type 1
+7 more
GUncertain significance
SCN4A
(P19S)
Single nucleotide variant
(missense variant)
Hypokalemic periodic paralysis, type 1
+6 more
GUncertain significance
GH-LCR, SCN4A
(K880del)
Microsatellite
(inframe_deletion)
Hypokalemic periodic paralysis, type 1
+6 more
GUncertain significance
GH-LCR, SCN4A
(R1129W)
Single nucleotide variant
(missense variant)
Hypokalemic periodic paralysis, type 1
+6 more
GUncertain significance
GH-LCR, SCN4A
Single nucleotide variant
(synonymous variant)
Paramyotonia congenita of Von Eulenburg
+5 more
GLikely benign
GH-LCR, SCN4A
Single nucleotide variant
(synonymous variant)
Potassium-aggravated myotonia
+5 more
GLikely benign
SCN4A
Single nucleotide variant
(intron variant)
Hypokalemic periodic paralysis, type 1
+5 more
GLikely benign
SCN4A
Single nucleotide variant
(intron variant)
Familial hyperkalemic periodic paralysis
+5 more
GLikely benign
GH-LCR, SCN4A
Single nucleotide variant
(synonymous variant)
Familial hyperkalemic periodic paralysis
+5 more
GLikely benign
GH-LCR, SCN4A
Single nucleotide variant
(intron variant)
Congenital myasthenic syndrome 16
+5 more
GLikely benign
GH-LCR, SCN4A
Single nucleotide variant
(synonymous variant)
Familial hyperkalemic periodic paralysis
+5 more
GLikely benign
GH-LCR, SCN4A
Single nucleotide variant
(synonymous variant)
Hypokalemic periodic paralysis, type 1
+5 more
GLikely benign
SCN4A
Single nucleotide variant
(synonymous variant)
Familial hyperkalemic periodic paralysis
+5 more
GLikely benign
GH-LCR, SCN4A
(M1747V)
Single nucleotide variant
(missense variant)
not provided
+6 more
GUncertain significance
GH-LCR, SCN4A
(E884K)
Single nucleotide variant
(missense variant)
Familial hyperkalemic periodic paralysis
+5 more
GUncertain significance
SCN4A
(T140I)
Single nucleotide variant
(missense variant)
Familial hyperkalemic periodic paralysis
+6 more
GUncertain significance
SCN4A, GH-LCR
(I1027T)
Single nucleotide variant
(missense variant)
Familial hyperkalemic periodic paralysis
+5 more
GUncertain significance
SCN4A
(A552T)
Single nucleotide variant
(missense variant)
Familial hyperkalemic periodic paralysis
+5 more
GUncertain significance
SCN4A
(R122L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+6 more
GUncertain significance
GH-LCR, SCN4A
(R1740W)
Single nucleotide variant
(missense variant)
Paramyotonia congenita of Von Eulenburg
+5 more
GUncertain significance
SCN4A
(I129T)
Single nucleotide variant
(missense variant)
not provided
+7 more
GUncertain significance
SCN4A
(K566N)
Single nucleotide variant
(missense variant)
Familial hyperkalemic periodic paralysis
+5 more
GUncertain significance
GH-LCR, SCN4A
(V1836I)
Single nucleotide variant
(missense variant)
Familial hyperkalemic periodic paralysis
+5 more
GUncertain significance
SCN4A
(E536K)
Single nucleotide variant
(missense variant)
Familial hyperkalemic periodic paralysis
+5 more
GUncertain significance
SCN4A
(E460K)
Single nucleotide variant
(missense variant)
Familial hyperkalemic periodic paralysis
+7 more
GUncertain significance
GH-LCR, SCN4A
Single nucleotide variant
(synonymous variant)
Congenital myasthenic syndrome 16
+5 more
GLikely benign
GH-LCR, SCN4A
(K1302Q)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
SCN4A
(G123R)
Single nucleotide variant
(missense variant)
not specified
+6 more
GUncertain significance
GH-LCR, SCN4A
(N1503S)
Single nucleotide variant
(missense variant)
not provided
+6 more
GUncertain significance
SCN4A
(R52Q)
Single nucleotide variant
(missense variant)
Familial hyperkalemic periodic paralysis
+6 more
GUncertain significance
SCN4A
(N291S)
Single nucleotide variant
(missense variant)
Familial hyperkalemic periodic paralysis
+5 more
GUncertain significance
SCN4A
(I571V)
Single nucleotide variant
(missense variant)
Familial hyperkalemic periodic paralysis
+5 more
GUncertain significance
GH-LCR, SCN4A
(I1468V)
Single nucleotide variant
(missense variant)
not provided
+6 more
GUncertain significance
SCN4A
(V247L)
Single nucleotide variant
(missense variant)
Potassium-aggravated myotonia
+6 more
GUncertain significance
GH-LCR, SCN4A
(M1360I)
Single nucleotide variant
(missense variant)
Familial hyperkalemic periodic paralysis
+6 more
GUncertain significance
GH-LCR, SCN4A
(V1507I)
Single nucleotide variant
(missense variant)
Potassium-aggravated myotonia
+6 more
GUncertain significance
GH-LCR, SCN4A
(G827W)
Single nucleotide variant
(missense variant)
Potassium-aggravated myotonia
+5 more
GUncertain significance
SCN4A
(R190W)
Single nucleotide variant
(missense variant)
Potassium-aggravated myotonia
+6 more
GUncertain significance
GH-LCR, SCN4A
(M897T)
Single nucleotide variant
(missense variant)
Hypokalemic periodic paralysis, type 2
+5 more
GUncertain significance
GH-LCR, SCN4A
(R1469Q)
Single nucleotide variant
(missense variant)
Hypokalemic periodic paralysis, type 2
+5 more
GUncertain significance
SCN4A
(N288S)
Single nucleotide variant
(missense variant)
Familial hyperkalemic periodic paralysis
+5 more
GUncertain significance
GH-LCR, SCN4A
Single nucleotide variant
(intron variant)
Familial hyperkalemic periodic paralysis
+5 more
GConflicting classifications of pathogenicity
GH-LCR, SCN4A
(I1455T)
Single nucleotide variant
(missense variant)
Hypokalemic periodic paralysis, type 2
+6 more
GConflicting classifications of pathogenicity
GH-LCR, SCN4A
(D1420N)
Single nucleotide variant
(missense variant)
Congenital myasthenic syndrome 16
+4 more
GUncertain significance
GH-LCR, SCN4A
Single nucleotide variant
(3 prime UTR variant)
Congenital myasthenic syndrome 16
+4 more
GUncertain significance
SCN4A
Single nucleotide variant
(synonymous variant)
Congenital myasthenic syndrome 16
+4 more
GConflicting classifications of pathogenicity
GH-LCR, SCN4A
Single nucleotide variant
(3 prime UTR variant)
Congenital myasthenic syndrome 16
+4 more
GUncertain significance
GH-LCR, SCN4A
(R1021H)
Single nucleotide variant
(missense variant)
Congenital myasthenic syndrome 16
+4 more
GConflicting classifications of pathogenicity
SCN4A
(I129M)
Single nucleotide variant
(missense variant)
Congenital myasthenic syndrome 16
+4 more
GUncertain significance
SCN4A
(I176T)
Single nucleotide variant
(missense variant)
Congenital myasthenic syndrome 16
+4 more
GUncertain significance
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