U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 1 to 100 of 2008

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABCA10, ADAM11
+2032 more
Copy number gain
See cases
GPathogenic
LOC130060795, LOC130060796
+1753 more
Copy number gain
See cases
GPathogenic
GH-LCR, SCN4A
Single nucleotide variant
not provided
GLikely benign
GH-LCR, SCN4A
Single nucleotide variant
not provided
GBenign
GH-LCR, SCN4A
Single nucleotide variant
(3 prime UTR variant)
Congenital myasthenic syndrome 16
+4 more
GUncertain significance
GH-LCR, SCN4A
Single nucleotide variant
(3 prime UTR variant)
Potassium-aggravated myotonia
+4 more
GConflicting classifications of pathogenicity
GH-LCR, SCN4A
Single nucleotide variant
(3 prime UTR variant)
Congenital myasthenic syndrome 16
+4 more
GConflicting classifications of pathogenicity
GH-LCR, SCN4A
Single nucleotide variant
(3 prime UTR variant)
Hypokalemic periodic paralysis, type 2
+4 more
GConflicting classifications of pathogenicity
GH-LCR, SCN4A
Single nucleotide variant
(3 prime UTR variant)
Potassium-aggravated myotonia
+4 more
GUncertain significance
GH-LCR, SCN4A
Single nucleotide variant
(3 prime UTR variant)
Paramyotonia congenita of Von Eulenburg
+4 more
GConflicting classifications of pathogenicity
SCN4A, GH-LCR
Single nucleotide variant
(3 prime UTR variant)
Hypokalemic periodic paralysis, type 2
+5 more
GBenign/Likely benign
GH-LCR, SCN4A
Single nucleotide variant
(3 prime UTR variant)
Potassium-aggravated myotonia
+4 more
GConflicting classifications of pathogenicity
GH-LCR, SCN4A
Single nucleotide variant
(3 prime UTR variant)
Hyperkalemic periodic paralysis
+4 more
GUncertain significance
GH-LCR, SCN4A
Single nucleotide variant
(3 prime UTR variant)
Hypokalemic periodic paralysis, type 2
+4 more
GUncertain significance
GH-LCR, SCN4A
Single nucleotide variant
(3 prime UTR variant)
Paramyotonia congenita of Von Eulenburg
+4 more
GUncertain significance
GH-LCR, SCN4A
Single nucleotide variant
(3 prime UTR variant)
Hyperkalemic periodic paralysis
+4 more
GBenign/Likely benign
GH-LCR, SCN4A
Single nucleotide variant
(3 prime UTR variant)
Congenital myasthenic syndrome 16
+5 more
GBenign
GH-LCR, SCN4A
Single nucleotide variant
(3 prime UTR variant)
not provided
GBenign
GH-LCR, SCN4A
Microsatellite
(3 prime UTR variant)
not provided
+5 more
GBenign
GH-LCR, SCN4A
Insertion
(3 prime UTR variant)
not provided
+5 more
GBenign/Likely benign
GH-LCR, SCN4A
Single nucleotide variant
(3 prime UTR variant)
Potassium-aggravated myotonia
+4 more
GBenign
GH-LCR, SCN4A
Single nucleotide variant
(3 prime UTR variant)
Potassium-aggravated myotonia
+4 more
GUncertain significance
GH-LCR, SCN4A
Single nucleotide variant
(3 prime UTR 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
GH-LCR, SCN4A
Single nucleotide variant
(3 prime UTR variant)
Congenital myasthenic syndrome 16
+4 more
GUncertain significance
GH-LCR, SCN4A
Single nucleotide variant
(3 prime UTR variant)
not provided
+5 more
GBenign
GH-LCR, SCN4A
Microsatellite
(3 prime UTR variant)
not provided
+5 more
GBenign
GH-LCR, SCN4A
Single nucleotide variant
(3 prime UTR variant)
not provided
+5 more
GBenign/Likely benign
GH-LCR, SCN4A
Single nucleotide variant
(3 prime UTR variant)
Paramyotonia congenita of Von Eulenburg
+5 more
GBenign
GH-LCR, SCN4A
Single nucleotide variant
(3 prime UTR variant)
Potassium-aggravated myotonia
+4 more
GUncertain significance
GH-LCR, SCN4A
Single nucleotide variant
(3 prime UTR variant)
Paramyotonia congenita of Von Eulenburg
+4 more
GConflicting classifications of pathogenicity
GH-LCR, SCN4A
Single nucleotide variant
(3 prime UTR variant)
Potassium-aggravated myotonia
+4 more
GUncertain significance
GH-LCR, SCN4A
Single nucleotide variant
(3 prime UTR variant)
Congenital myasthenic syndrome 16
+5 more
GBenign
GH-LCR, SCN4A
Single nucleotide variant
(3 prime UTR variant)
Congenital myasthenic syndrome 16
+4 more
GUncertain significance
GH-LCR, SCN4A
Single nucleotide variant
(3 prime UTR variant)
Hypokalemic periodic paralysis, type 2
+4 more
GUncertain significance
GH-LCR, SCN4A
Single nucleotide variant
(3 prime UTR variant)
Congenital myasthenic syndrome 16
+5 more
GBenign/Likely benign
GH-LCR, SCN4A
Single nucleotide variant
(3 prime UTR variant)
Congenital Myasthenic Syndrome, Recessive
+4 more
GUncertain significance
GH-LCR, SCN4A
Insertion
(3 prime UTR variant)
not provided
GBenign
SCN4A, GH-LCR
Single nucleotide variant
(3 prime UTR variant)
Paramyotonia congenita of Von Eulenburg
+4 more
GUncertain significance
GH-LCR, SCN4A
Single nucleotide variant
(3 prime UTR variant)
Congenital myasthenic syndrome 16
+4 more
GUncertain significance
GH-LCR, SCN4A
Single nucleotide variant
(3 prime UTR variant)
Congenital myasthenic syndrome 16
+5 more
GBenign/Likely benign
GH-LCR, SCN4A
Single nucleotide variant
(3 prime UTR variant)
Hypokalemic periodic paralysis, type 2
+4 more
GUncertain significance
GH-LCR, SCN4A
Single nucleotide variant
(3 prime UTR variant)
Paramyotonia congenita of Von Eulenburg
+4 more
GUncertain significance
GH-LCR, SCN4A
Single nucleotide variant
(3 prime UTR variant)
Hypokalemic periodic paralysis, type 2
+4 more
GBenign
GH-LCR, SCN4A
Single nucleotide variant
(3 prime UTR 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
GH-LCR, SCN4A
Single nucleotide variant
(3 prime UTR variant)
Paramyotonia congenita of Von Eulenburg
+4 more
GUncertain significance
GH-LCR, SCN4A
Single nucleotide variant
(3 prime UTR 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
GBenign
GH-LCR, SCN4A
Single nucleotide variant
(3 prime UTR variant)
Congenital Myasthenic Syndrome, Recessive
+4 more
GLikely benign
GH-LCR, SCN4A
Single nucleotide variant
(3 prime UTR 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
GBenign
GH-LCR, SCN4A
Single nucleotide variant
(3 prime UTR 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
GH-LCR, SCN4A
Single nucleotide variant
(3 prime UTR variant)
not provided
+5 more
GBenign/Likely benign
GH-LCR, SCN4A
Single nucleotide variant
(3 prime UTR variant)
Paramyotonia congenita of Von Eulenburg
+4 more
GUncertain significance
GH-LCR, SCN4A
Single nucleotide variant
(3 prime UTR variant)
Paramyotonia congenita of Von Eulenburg
+4 more
GConflicting classifications of pathogenicity
GH-LCR, SCN4A
Single nucleotide variant
(3 prime UTR variant)
Hyperkalemic periodic paralysis
+4 more
GUncertain significance
GH-LCR, SCN4A
Single nucleotide variant
(3 prime UTR variant)
Paramyotonia congenita of Von Eulenburg
+4 more
GConflicting classifications of pathogenicity
GH-LCR, SCN4A
Single nucleotide variant
(3 prime UTR variant)
Potassium-aggravated myotonia
+5 more
GBenign
GH-LCR, SCN4A
Single nucleotide variant
(3 prime UTR variant)
Potassium-aggravated myotonia
+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
Single nucleotide variant
(3 prime UTR variant)
not provided
+5 more
GBenign
GH-LCR, SCN4A
(V1836I)
Single nucleotide variant
(missense variant)
Hyperkalemic periodic paralysis
+5 more
GUncertain significance
GH-LCR, SCN4A
Single nucleotide variant
(synonymous variant)
Congenital myasthenic syndrome 16
+6 more
GBenign
GH-LCR, SCN4A
(E1833V)
Single nucleotide variant
(missense variant)
Hyperkalemic periodic paralysis
GUncertain significance
GH-LCR, SCN4A
(K1832R)
Single nucleotide variant
(missense variant)
Hypokalemic periodic paralysis, type 1
+5 more
GUncertain significance
GH-LCR, SCN4A
(V1831D)
Single nucleotide variant
(missense variant)
Hypokalemic periodic paralysis, type 2
+6 more
GUncertain significance
GH-LCR, SCN4A
(R1828H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SCN4A, GH-LCR
(R1828C)
Single nucleotide variant
(missense variant)
Paramyotonia congenita of Von Eulenburg
+6 more
GUncertain significance
GH-LCR, SCN4A
(V1827M)
Single nucleotide variant
(missense variant)
Hyperkalemic periodic paralysis
GUncertain significance
GH-LCR, SCN4A
Single nucleotide variant
(synonymous variant)
Hyperkalemic periodic paralysis
GLikely benign
GH-LCR, SCN4A
(T1826M)
Indel
(missense variant)
not provided
+6 more
GUncertain significance
GH-LCR, SCN4A
Single nucleotide variant
(synonymous variant)
Potassium-aggravated myotonia
+5 more
GBenign
GH-LCR, SCN4A
Single nucleotide variant
(synonymous variant)
Hyperkalemic periodic paralysis
GLikely benign
SCN4A, GH-LCR
(P1823R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
GH-LCR, SCN4A
(P1823T)
Single nucleotide variant
(missense variant)
Hyperkalemic periodic paralysis
GUncertain significance
GH-LCR, SCN4A
(P1822H)
Single nucleotide variant
(missense variant)
Hypokalemic periodic paralysis, type 2
+5 more
GUncertain significance
GH-LCR, SCN4A
(A1820T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
GH-LCR, SCN4A
Single nucleotide variant
(synonymous variant)
Hypokalemic periodic paralysis, type 2
+4 more
GConflicting classifications of pathogenicity
GH-LCR, SCN4A
(P1818L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
GH-LCR, SCN4A
(W1817*)
Single nucleotide variant
(nonsense)
Hyperkalemic periodic paralysis
GUncertain significance
GH-LCR, SCN4A
Single nucleotide variant
(synonymous variant)
Hypokalemic periodic paralysis, type 1
+5 more
GLikely benign
SCN4A, GH-LCR
Single nucleotide variant
(synonymous variant)
Hyperkalemic periodic paralysis
GLikely benign
GH-LCR, SCN4A
(S1813*)
Single nucleotide variant
(nonsense)
Hyperkalemic periodic paralysis
GUncertain significance
GH-LCR, SCN4A
Single nucleotide variant
(synonymous variant)
Hyperkalemic periodic paralysis
GLikely benign
GH-LCR, SCN4A
(P1812H)
Single nucleotide variant
(missense variant)
Hyperkalemic periodic paralysis
GUncertain significance
GH-LCR, SCN4A
(P1812S)
Single nucleotide variant
(missense variant)
Long QT syndrome
GUncertain significance
GH-LCR, SCN4A
(I1810T)
Single nucleotide variant
(missense variant)
Hyperkalemic periodic paralysis
GUncertain significance
GH-LCR, SCN4A
Deletion
not specified
+8 more
GUncertain significance
GH-LCR, SCN4A
(M1808I)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
GH-LCR, SCN4A
(G1806E)
Single nucleotide variant
(missense variant)
Hyperkalemic periodic paralysis
GUncertain significance
GH-LCR, SCN4A
(M1805I)
Single nucleotide variant
(missense variant)
not provided
+6 more
GUncertain significance
GH-LCR, SCN4A
(M1805V)
Single nucleotide variant
(missense variant)
Hyperkalemic periodic paralysis
GUncertain significance
GH-LCR, SCN4A
(T1804fs)
Duplication
(frameshift variant)
Hyperkalemic periodic paralysis
GUncertain significance
GH-LCR, SCN4A
(T1804A)
Single nucleotide variant
(missense variant)
not provided
+6 more
GUncertain significance
GH-LCR, SCN4A
Single nucleotide variant
(synonymous variant)
Hyperkalemic periodic paralysis
GLikely benign
GH-LCR, SCN4A
(G1802E)
Single nucleotide variant
(missense variant)
not provided
+6 more
GUncertain significance
GH-LCR, SCN4A
(G1802R)
Single nucleotide variant
(missense variant)
not provided
+5 more
GConflicting classifications of pathogenicity
GH-LCR, SCN4A
Single nucleotide variant
(synonymous variant)
Hyperkalemic periodic paralysis
GLikely benign
Format
Items per page
Sort by
Choose Destination