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Items: 1 to 100 of 2665

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ANK2
(A8T)
Single nucleotide variant
(missense variant)
ANK2-related disorder
GLikely benign
ANK2
(A8G)
Single nucleotide variant
(missense variant)
Cardiac arrhythmia, ankyrin-B-related
GUncertain significance
ANK2
Single nucleotide variant
(intron variant)
not provided
GBenign
ANK2
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GBenign
ANK2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ANK2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ANK2
Single nucleotide variant
(intron variant)
not provided
GBenign
ANK2
Single nucleotide variant
(intron variant)
not provided
GBenign
ANK2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ANK2
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GBenign
ANK2
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GBenign
ANK2
Single nucleotide variant
(5 prime UTR variant +1 more)
Cardiac arrhythmia, ankyrin-B-related
+1 more
GConflicting classifications of pathogenicity
ANK2
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GBenign
ANK2
(M2V)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
GUncertain significance
ANK2
(M2I)
Single nucleotide variant
(missense variant +1 more)
Long QT syndrome
GUncertain significance
ANK2
(D5Y)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ANK2
(S10N)
Single nucleotide variant
(missense variant +1 more)
Autism spectrum disorder
GLikely benign
ANK2
(D11V)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
GUncertain significance
ANK2
(S12I)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ANK2
Single nucleotide variant
(synonymous variant +1 more)
Long QT syndrome
GLikely benign
ANK2
(G13*)
Single nucleotide variant
(nonsense +1 more)
Meniere disease
GUncertain significance
ANK2
(E14D)
Single nucleotide variant
(missense variant +1 more)
Long QT syndrome
GUncertain significance
ANK2
(F16L)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
GUncertain significance
ANK2
Single nucleotide variant
(synonymous variant +1 more)
Long QT syndrome
+1 more
GLikely benign
ANK2
(N17D)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
GUncertain significance
ANK2
(S19N)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
+3 more
GConflicting classifications of pathogenicity
ANK2
Single nucleotide variant
(intron variant +1 more)
Long QT syndrome
+1 more
GLikely benign
ANK2
(K27T)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
+3 more
GUncertain significance
ANK2
Single nucleotide variant
(synonymous variant +1 more)
Long QT syndrome
GUncertain significance
ANK2
Single nucleotide variant
(intron variant)
Long QT syndrome
+2 more
GBenign/Likely benign
ANK2
Single nucleotide variant
(intron variant)
not provided
+1 more
GLikely benign
ANK2
Single nucleotide variant
(intron variant)
Long QT syndrome
GLikely benign
ANK2
Single nucleotide variant
(intron variant)
Cardiac arrhythmia, ankyrin-B-related
+1 more
GConflicting classifications of pathogenicity
ANK2
Single nucleotide variant
(intron variant)
Long QT syndrome
GBenign
ANK2
(E24D)
Single nucleotide variant
(missense variant +1 more)
ANK2-related disorder
GUncertain significance
ANK2
(R35S)
Single nucleotide variant
(missense variant +1 more)
ANK2-related disorder
+1 more
GUncertain significance
ANK2
(R37H)
Single nucleotide variant
(missense variant +1 more)
ANK2-related disorder
GUncertain significance
ANK2
Single nucleotide variant
(intron variant +1 more)
not provided
GLikely pathogenic
ANK2
(A12V)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
ANK2
(D13Y)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
ANK2
(K14E)
Single nucleotide variant
(missense variant +1 more)
Autistic behavior
GUncertain significance
ANK2
(M22K)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
ANK2
(C10Y +1 more)
Single nucleotide variant
(missense variant +1 more)
ANK2-related disorder
GUncertain significance
ANK2
Single nucleotide variant
(intron variant)
Long QT syndrome
GLikely benign
ANK2
Single nucleotide variant
(intron variant)
Long QT syndrome
GLikely benign
ANK2
Deletion
Long QT syndrome
GUncertain significance
ANK2
(R23C)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
+2 more
GConflicting classifications of pathogenicity
ANK2
(R23H)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
+1 more
GBenign/Likely benign
ANK2
(Q24*)
Single nucleotide variant
(nonsense +1 more)
Cardiovascular phenotype
GUncertain significance
ANK2
(S10G +5 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ANK2
Single nucleotide variant
(synonymous variant)
Long QT syndrome
+1 more
GLikely benign
ANK2
(L36F +5 more)
Single nucleotide variant
(missense variant)
Long QT syndrome
GUncertain significance
ANK2
Single nucleotide variant
(synonymous variant)
Long QT syndrome
GLikely benign
ANK2
(R16C +5 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ANK2
(A17V +5 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ANK2
(A35S +5 more)
Single nucleotide variant
(missense variant)
Long QT syndrome
GUncertain significance
ANK2
Indel
(splice donor variant)
Long QT syndrome
GUncertain significance
ANK2
(A20T +5 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ANK2
(A35G +5 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
ANK2
(N43D +5 more)
Single nucleotide variant
(missense variant)
Long QT syndrome
GUncertain significance
ANK2
(L23V +5 more)
Single nucleotide variant
(missense variant)
Long QT syndrome
+2 more
GBenign/Likely benign
ANK2
Single nucleotide variant
(synonymous variant)
Long QT syndrome
+2 more
GLikely benign
ANK2
(V26F +5 more)
Single nucleotide variant
(missense variant)
Long QT syndrome
GUncertain significance
ANK2
(V26A +5 more)
Single nucleotide variant
(missense variant)
Long QT syndrome
GUncertain significance
ANK2
(V44M +5 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
ANK2
(Y50N +5 more)
Single nucleotide variant
(missense variant)
Long QT syndrome
GUncertain significance
ANK2
(K31fs +5 more)
Deletion
(frameshift variant)
not provided
GUncertain significance
ANK2
(K31R +5 more)
Single nucleotide variant
(missense variant)
Long QT syndrome
GUncertain significance
ANK2
(G47R +5 more)
Single nucleotide variant
(missense variant)
Long QT syndrome
GUncertain significance
ANK2
(G47W +5 more)
Single nucleotide variant
(missense variant)
Long QT syndrome
+1 more
GUncertain significance
ANK2
(G32R +5 more)
Single nucleotide variant
(missense variant)
Long QT syndrome
GUncertain significance
ANK2
(G32A +5 more)
Single nucleotide variant
(missense variant)
Long QT syndrome
+1 more
GUncertain significance
ANK2
(G33D +5 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GUncertain significance
ANK2
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+1 more
GLikely benign
ANK2
(N37D +5 more)
Single nucleotide variant
(missense variant)
Long QT syndrome
GUncertain significance
ANK2
(T38I +5 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
ANK2
Single nucleotide variant
(intron variant)
Long QT syndrome
GBenign
ANK2
Single nucleotide variant
(intron variant)
Cardiovascular phenotype
GUncertain significance
ANK2
Single nucleotide variant
(intron variant)
Long QT syndrome
GLikely benign
ANK2
Single nucleotide variant
(intron variant)
Long QT syndrome
GLikely benign
ANK2
Single nucleotide variant
(intron variant)
not specified
+1 more
GLikely benign
ANK2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ANK2
Single nucleotide variant
(intron variant)
not provided
GBenign
ANK2
Single nucleotide variant
(intron variant)
not provided
GBenign
ANK2
Duplication
(intron variant)
not provided
GBenign
ANK2
Single nucleotide variant
(intron variant)
Long QT syndrome
GLikely benign
ANK2
Single nucleotide variant
(intron variant)
Long QT syndrome
GLikely benign
ANK2
Microsatellite
(intron variant)
Long QT syndrome
+1 more
GConflicting classifications of pathogenicity
ANK2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ANK2
Single nucleotide variant
(intron variant)
not specified
GLikely benign
ANK2
Single nucleotide variant
(intron variant)
Cardiac arrhythmia, ankyrin-B-related
GUncertain significance
ANK2
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
GLikely benign
ANK2
(N45K +5 more)
Single nucleotide variant
(missense variant)
Long QT syndrome
GUncertain significance
ANK2
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+3 more
GConflicting classifications of pathogenicity
ANK2
(L62V +5 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GUncertain significance
ANK2
(G69A +5 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
ANK2
Single nucleotide variant
(synonymous variant)
Long QT syndrome
+1 more
GLikely benign
ANK2
(V56M +5 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
ANK2
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+1 more
GLikely benign
ANK2
Single nucleotide variant
(synonymous variant)
Cardiac arrhythmia, ankyrin-B-related
+4 more
GConflicting classifications of pathogenicity
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