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Items: 1 to 100 of 2599

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130005128, LOC130005129
+723 more
Copy number gain
See cases
GPathogenic
LOC111718490, LOC112067719
+388 more
Copy number gain
See cases
GPathogenic
LOC130005104, LOC130005105
+271 more
Copy number gain
See cases
GPathogenic
STIM1-AS1, SYT8
+332 more
Copy number gain
See cases
GPathogenic
ANO9, AP2A2
+266 more
Copy number gain
See cases
GPathogenic
CHID1, CHRNA10
+917 more
Copy number gain
See cases
GPathogenic
BGLT3, A-GAMMA3'E
+328 more
Deletion
Thalassemia, gamma-delta-beta
GPathogenic
ASCL2, BRSK2
+129 more
Copy number loss
See cases
GPathogenic
ASCL2, C11orf21
+115 more
Copy number gain
See cases
GPathogenic
ASCL2, C11orf21
+83 more
Copy number loss
See cases
GUncertain significance
ASCL2, C11orf21
+52 more
Copy number gain
See cases
GPathogenic
ASCL2, C11orf21
+32 more
Copy number gain
See cases
GUncertain significance
ASCL2, C11orf21
+28 more
Copy number gain
See cases
GUncertain significance
KCNQ1
Single nucleotide variant
not provided
GLikely benign
LOC130005142, KCNQ1
Deletion
not provided
GBenign
KCNQ1, LOC130005142
Single nucleotide variant
not provided
GBenign
KCNQ1
Single nucleotide variant
(5 prime UTR variant)
Short QT syndrome type 2
+5 more
GUncertain significance
KCNQ1
Single nucleotide variant
(5 prime UTR variant)
Short QT syndrome type 2
+3 more
GUncertain significance
KCNQ1
Single nucleotide variant
(5 prime UTR variant)
Short QT syndrome type 2
+5 more
GConflicting classifications of pathogenicity
KCNQ1
Deletion
(5 prime UTR variant)
not specified
GLikely benign
KCNQ1
Single nucleotide variant
(5 prime UTR variant)
not provided
+7 more
GConflicting classifications of pathogenicity
KCNQ1
Single nucleotide variant
(5 prime UTR variant)
Cardiovascular phenotype
GUncertain significance
KCNQ1
Single nucleotide variant
(5 prime UTR variant)
Cardiovascular phenotype
GUncertain significance
KCNQ1
Single nucleotide variant
(5 prime UTR variant)
Cardiovascular phenotype
GUncertain significance
KCNQ1
(M1L)
Single nucleotide variant
(missense variant +1 more)
Long QT syndrome
GPathogenic
KCNQ1
(M1V)
Single nucleotide variant
(missense variant +1 more)
Congenital long QT syndrome
Gnot provided
KCNQ1
(M1K)
Single nucleotide variant
(missense variant +1 more)
not provided
GPathogenic
KCNQ1
(M1T)
Single nucleotide variant
(missense variant +1 more)
Congenital long QT syndrome
Gnot provided
KCNQ1
(A2T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KCNQ1
Single nucleotide variant
(missense variant)
Long QT syndrome 1
GLikely pathogenic
KCNQ1
(A2V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KCNQ1
(A3P)
Single nucleotide variant
(missense variant)
Long QT syndrome
GUncertain significance
KCNQ1
(A3G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KCNQ1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
KCNQ1
Single nucleotide variant
(synonymous variant +1 more)
Long QT syndrome
GLikely benign
KCNQ1
(P7fs)
Deletion
(frameshift variant)
not provided
GLikely pathogenic
KCNQ1
(P7S)
Single nucleotide variant
(missense variant)
Long QT syndrome
+8 more
GConflicting classifications of pathogenicity
KCNQ1
Single nucleotide variant
(synonymous variant +1 more)
Long QT syndrome
GLikely benign
KCNQ1
Single nucleotide variant
(synonymous variant +1 more)
Long QT syndrome
GLikely benign
KCNQ1
(R9T)
Single nucleotide variant
(missense variant)
Jervell and Lange-Nielsen syndrome 1
+1 more
GUncertain significance
KCNQ1
(A10T)
Single nucleotide variant
(missense variant +1 more)
Long QT syndrome
GUncertain significance
KCNQ1
(A10D)
Single nucleotide variant
(missense variant)
Familial atrial fibrillation
+4 more
GUncertain significance
KCNQ1
Single nucleotide variant
(synonymous variant +1 more)
Cardiovascular phenotype
GLikely benign
KCNQ1
(E11K)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
KCNQ1
(E11G)
Single nucleotide variant
(missense variant +1 more)
Long QT syndrome
GUncertain significance
KCNQ1
Single nucleotide variant
(synonymous variant +1 more)
Long QT syndrome
GLikely benign
KCNQ1
(K13*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
KCNQ1
(K13R)
Single nucleotide variant
(missense variant)
Long QT syndrome
GUncertain significance
KCNQ1
(R14C)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
KCNQ1
(R14L)
Single nucleotide variant
(missense variant)
Long QT syndrome 1
+7 more
GUncertain significance
KCNQ1
(W15C)
Single nucleotide variant
(missense variant)
Long QT syndrome
+1 more
GUncertain significance
KCNQ1
(G16fs)
Deletion
(frameshift variant +1 more)
Long QT syndrome
GPathogenic
KCNQ1
(W17*)
Single nucleotide variant
(nonsense)
Long QT syndrome
GPathogenic
KCNQ1
(P21L)
Single nucleotide variant
(missense variant)
Long QT syndrome
GUncertain significance
KCNQ1
(G22C)
Single nucleotide variant
(missense variant)
Long QT syndrome
GUncertain significance
KCNQ1
(G22R)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
KCNQ1
Single nucleotide variant
(synonymous variant +1 more)
Long QT syndrome
GLikely benign
KCNQ1
Single nucleotide variant
(synonymous variant)
Congenital long QT syndrome
+4 more
GUncertain significance
KCNQ1
(A23V)
Single nucleotide variant
(missense variant)
Long QT syndrome
GUncertain significance
KCNQ1
(R24W)
Single nucleotide variant
(missense variant)
Long QT syndrome
+1 more
GUncertain significance
KCNQ1
(R25P)
Single nucleotide variant
(missense variant)
Long QT syndrome
+1 more
GUncertain significance
KCNQ1
(S27N)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
GUncertain significance
KCNQ1
(S27R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KCNQ1
(A28G)
Single nucleotide variant
(missense variant)
Long QT syndrome
GUncertain significance
KCNQ1
(G29S)
Single nucleotide variant
(missense variant)
Long QT syndrome
GUncertain significance
KCNQ1
(G29V)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
GUncertain significance
KCNQ1
(L30P)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GUncertain significance
KCNQ1
(K32*)
Single nucleotide variant
(nonsense)
Long QT syndrome
+1 more
GPathogenic
KCNQ1
Single nucleotide variant
(synonymous variant +1 more)
Long QT syndrome
GLikely benign
KCNQ1
(C34*)
Single nucleotide variant
(nonsense +1 more)
Congenital long QT syndrome
+1 more
GPathogenic/Likely pathogenic
KCNQ1
(P35R)
Single nucleotide variant
(missense variant +1 more)
Long QT syndrome
GUncertain significance
KCNQ1
(P35L)
Single nucleotide variant
(missense variant)
Long QT syndrome
GUncertain significance
KCNQ1
Single nucleotide variant
(synonymous variant +1 more)
Long QT syndrome
GLikely benign
KCNQ1
(S37fs)
Duplication
(frameshift variant)
Cardiovascular phenotype
GPathogenic
KCNQ1
Single nucleotide variant
(synonymous variant)
Long QT syndrome
+3 more
GLikely benign
KCNQ1
Single nucleotide variant
(synonymous variant)
Long QT syndrome
GLikely benign
KCNQ1
Single nucleotide variant
(synonymous variant)
Long QT syndrome
GLikely benign
KCNQ1
Single nucleotide variant
(synonymous variant)
Long QT syndrome
GLikely benign
KCNQ1
(E39*)
Single nucleotide variant
(nonsense)
Jervell and Lange-Nielsen syndrome 1
GPathogenic
KCNQ1
Single nucleotide variant
(synonymous variant)
Long QT syndrome
GLikely benign
KCNQ1
(E42*)
Single nucleotide variant
(nonsense)
not provided
GLikely pathogenic
KCNQ1
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GLikely benign
KCNQ1
(G44S)
Single nucleotide variant
(missense variant +1 more)
Long QT syndrome
GUncertain significance
KCNQ1
(G44R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
KCNQ1
Duplication
(inframe_insertion +1 more)
Long QT syndrome
GUncertain significance
KCNQ1
(A49fs)
Duplication
(frameshift variant)
not provided
GPathogenic
KCNQ1
(P45L)
Single nucleotide variant
(missense variant +1 more)
Long QT syndrome
GUncertain significance
KCNQ1
(P45R)
Single nucleotide variant
(missense variant)
Long QT syndrome
+1 more
GUncertain significance
KCNQ1
Single nucleotide variant
(synonymous variant +1 more)
Long QT syndrome
GLikely benign
KCNQ1
Single nucleotide variant
(synonymous variant +1 more)
Long QT syndrome
GLikely benign
KCNQ1
(A46T)
Single nucleotide variant
(missense variant)
Atrial fibrillation, familial, 3
+8 more
GUncertain significance
KCNQ1
(A46E)
Single nucleotide variant
(missense variant)
Long QT syndrome
GUncertain significance
KCNQ1
Single nucleotide variant
(synonymous variant)
Long QT syndrome
GLikely benign
KCNQ1
Single nucleotide variant
(synonymous variant)
Long QT syndrome
GLikely benign
KCNQ1
(Y51fs)
Duplication
(frameshift variant)
Long QT syndrome 1
Gnot provided
KCNQ1
Microsatellite
(inframe_indel +1 more)
Cardiovascular phenotype
GUncertain significance
KCNQ1
(Y51C)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GUncertain significance
KCNQ1
Duplication
(inframe_insertion)
Ventricular fibrillation
+5 more
GConflicting classifications of pathogenicity
KCNQ1
(Y51*)
Single nucleotide variant
(nonsense)
Cardiac arrhythmia
+1 more
GPathogenic
KCNQ1
(Y51*)
Single nucleotide variant
(nonsense)
not provided
+4 more
GPathogenic/Likely pathogenic
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