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Items: 1 to 100 of 600

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC112533659, LOC112533660
+2032 more
Copy number gain
See cases
GPathogenic
LOC129390924, LOC129390925
+59 more
Copy number loss
See cases
GPathogenic
MIR636, MIR6516
+1033 more
Copy number gain
See cases
GPathogenic
CASC17, KCNJ16
+18 more
Copy number loss
See cases
GUncertain significance
AANAT, AATK
+1013 more
Copy number gain
See cases
GPathogenic
CASC17, KCNJ16
+12 more
Copy number gain
See cases
GLikely benign
KCNJ16, KCNJ2
+7 more
Copy number gain
See cases
GUncertain significance
KCNJ2, KCNJ2-AS1
+1 more
Duplication
not provided
GUncertain significance
KCNJ2, KCNJ2-AS1
+1 more
Single nucleotide variant
(non-coding transcript variant)
not provided
GBenign
KCNJ2, LOC130061539
Single nucleotide variant
(5 prime UTR variant)
Atrial fibrillation, familial, 9
+2 more
GUncertain significance
KCNJ2, LOC130061539
Single nucleotide variant
(5 prime UTR variant)
Andersen Tawil syndrome
+3 more
GConflicting classifications of pathogenicity
KCNJ2, LOC130061539
Single nucleotide variant
(5 prime UTR variant)
Atrial fibrillation, familial, 9
+2 more
GUncertain significance
KCNJ2
Single nucleotide variant
(5 prime UTR variant)
Short QT syndrome type 3
+2 more
GConflicting classifications of pathogenicity
KCNJ2
Single nucleotide variant
(5 prime UTR variant)
Andersen Tawil syndrome
+2 more
GUncertain significance
KCNJ2
Single nucleotide variant
(5 prime UTR variant)
not specified
GLikely benign
KCNJ2
Single nucleotide variant
(5 prime UTR variant)
Andersen Tawil syndrome
+3 more
GConflicting classifications of pathogenicity
KCNJ2
Single nucleotide variant
(intron variant)
not specified
GLikely benign
KCNJ2
Single nucleotide variant
(intron variant)
not provided
GBenign
KCNJ2
Deletion
(splice acceptor variant +1 more)
Andersen Tawil syndrome
+1 more
GPathogenic
KCNJ2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
KCNJ2
Single nucleotide variant
(intron variant)
not provided
GBenign
KCNJ2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
KCNJ2
Single nucleotide variant
(5 prime UTR variant)
not specified
GLikely benign
KCNJ2
Single nucleotide variant
(5 prime UTR variant)
Short QT syndrome type 3
+3 more
GConflicting classifications of pathogenicity
KCNJ2
Insertion
(5 prime UTR variant)
not provided
+3 more
GBenign/Likely benign
KCNJ2
Insertion
(5 prime UTR variant)
not provided
+3 more
GBenign/Likely benign
KCNJ2
Single nucleotide variant
(5 prime UTR variant)
not provided
GBenign
KCNJ2
Indel
(5 prime UTR variant)
Familial atrial fibrillation
+2 more
GUncertain significance
KCNJ2
Single nucleotide variant
(5 prime UTR variant)
not provided
GBenign
KCNJ2
Single nucleotide variant
(5 prime UTR variant)
Familial atrial fibrillation
+2 more
GUncertain significance
KCNJ2
Single nucleotide variant
(5 prime UTR variant)
not provided
GBenign
KCNJ2
Single nucleotide variant
(5 prime UTR variant)
not provided
GBenign
KCNJ2
Single nucleotide variant
(5 prime UTR variant)
Cardiovascular phenotype
GUncertain significance
KCNJ2
Single nucleotide variant
(5 prime UTR variant)
Cardiovascular phenotype
+4 more
GBenign/Likely benign
KCNJ2
Single nucleotide variant
(5 prime UTR variant)
Cardiovascular phenotype
GUncertain significance
KCNJ2
Single nucleotide variant
(5 prime UTR variant)
KCNJ2-related disorder
+1 more
GConflicting classifications of pathogenicity
KCNJ2
(M1T)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
+1 more
GUncertain significance
KCNJ2
(G2R)
Single nucleotide variant
(missense variant)
Andersen Tawil syndrome
+1 more
GUncertain significance
KCNJ2
Insertion
(inframe_insertion)
Andersen Tawil syndrome
+1 more
GUncertain significance
KCNJ2
Single nucleotide variant
(synonymous variant)
Andersen Tawil syndrome
+2 more
GLikely benign
KCNJ2
(S3T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KCNJ2
Single nucleotide variant
(synonymous variant)
Short QT syndrome type 3
+1 more
GLikely benign
KCNJ2
(R5G)
Single nucleotide variant
(missense variant)
Andersen Tawil syndrome
+1 more
GUncertain significance
KCNJ2
(R5*)
Single nucleotide variant
(nonsense)
Cardiovascular phenotype
+2 more
GUncertain significance
KCNJ2
(R5Q)
Single nucleotide variant
(missense variant)
Short QT syndrome type 3
+1 more
GUncertain significance
KCNJ2
(T6S)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GLikely benign
KCNJ2
(T6I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KCNJ2
Single nucleotide variant
(synonymous variant)
Short QT syndrome type 3
+1 more
GLikely benign
KCNJ2
(N7K)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
KCNJ2
(R8C)
Single nucleotide variant
(missense variant)
Atrial fibrillation, familial, 9
+3 more
GUncertain significance
KCNJ2
(R8H)
Single nucleotide variant
(missense variant)
Andersen Tawil syndrome
+1 more
GUncertain significance
KCNJ2
Single nucleotide variant
(synonymous variant)
Andersen Tawil syndrome
+1 more
GLikely benign
KCNJ2
(I11V)
Single nucleotide variant
(missense variant)
Andersen Tawil syndrome
+1 more
GUncertain significance
KCNJ2
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GLikely benign
KCNJ2
Single nucleotide variant
(synonymous variant)
Andersen Tawil syndrome
+1 more
GLikely benign
KCNJ2
(E16Q)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
KCNJ2
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+2 more
GLikely benign
KCNJ2
(D17N)
Single nucleotide variant
(missense variant)
Wolff-Parkinson-White pattern
GUncertain significance
KCNJ2
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GLikely benign
KCNJ2
(G18R)
Single nucleotide variant
(missense variant)
Andersen Tawil syndrome
+1 more
GUncertain significance
KCNJ2
(G18S)
Single nucleotide variant
(missense variant)
Andersen Tawil syndrome
+1 more
GUncertain significance
KCNJ2
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+3 more
GLikely benign
KCNJ2
(M24V)
Single nucleotide variant
(missense variant)
Andersen Tawil syndrome
+1 more
GUncertain significance
KCNJ2
Single nucleotide variant
(synonymous variant)
Andersen Tawil syndrome
+1 more
GLikely benign
KCNJ2
Single nucleotide variant
(synonymous variant)
Andersen Tawil syndrome
+1 more
GLikely benign
KCNJ2
(N28S)
Single nucleotide variant
(missense variant)
Brugada syndrome
GUncertain significance
KCNJ2
Single nucleotide variant
(synonymous variant)
Andersen Tawil syndrome
+1 more
GLikely benign
KCNJ2
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+2 more
GLikely benign
KCNJ2
(F30S)
Single nucleotide variant
(missense variant)
Andersen Tawil syndrome
+1 more
GUncertain significance
KCNJ2
Single nucleotide variant
(synonymous variant)
Andersen Tawil syndrome
+1 more
GLikely benign
KCNJ2
(N32K)
Single nucleotide variant
(missense variant)
Short QT syndrome type 3
+1 more
GUncertain significance
KCNJ2
Single nucleotide variant
(synonymous variant)
Andersen Tawil syndrome
+3 more
GBenign/Likely benign
KCNJ2
(G33R)
Single nucleotide variant
(missense variant)
Long QT syndrome
+2 more
GUncertain significance
KCNJ2
(G33R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KCNJ2
Single nucleotide variant
(synonymous variant)
Short QT syndrome type 3
+1 more
GLikely benign
KCNJ2
(K34R)
Single nucleotide variant
(missense variant)
Andersen Tawil syndrome
+1 more
GUncertain significance
KCNJ2
(K34N)
Single nucleotide variant
(missense variant)
Andersen Tawil syndrome
+2 more
GConflicting classifications of pathogenicity
KCNJ2
Single nucleotide variant
(synonymous variant)
Andersen Tawil syndrome
+1 more
GLikely benign
KCNJ2
(K34N)
Single nucleotide variant
(missense variant)
Andersen Tawil syndrome
GUncertain significance
KCNJ2
(K36E)
Single nucleotide variant
(missense variant)
Andersen Tawil syndrome
+1 more
GUncertain significance
KCNJ2
(V37I)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
KCNJ2
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
GLikely benign
KCNJ2
(R40*)
Single nucleotide variant
(nonsense)
Cardiovascular phenotype
+3 more
GConflicting classifications of pathogenicity
KCNJ2
(R40L)
Single nucleotide variant
(missense variant)
Andersen Tawil syndrome
+1 more
GUncertain significance
KCNJ2
(R40P)
Single nucleotide variant
(missense variant)
Andersen Tawil syndrome
+1 more
GUncertain significance
KCNJ2
(R40Q)
Single nucleotide variant
(missense variant)
not provided
+5 more
GConflicting classifications of pathogenicity
KCNJ2
Single nucleotide variant
(synonymous variant)
Andersen Tawil syndrome
+1 more
GLikely benign
KCNJ2
(C43Y)
Single nucleotide variant
(missense variant)
Andersen Tawil syndrome
+2 more
GConflicting classifications of pathogenicity
KCNJ2
(R44K)
Single nucleotide variant
(missense variant)
Andersen Tawil syndrome
+1 more
GUncertain significance
KCNJ2
Single nucleotide variant
(synonymous variant)
Andersen Tawil syndrome
+2 more
GLikely benign
KCNJ2
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
GLikely benign
KCNJ2
(R46C)
Single nucleotide variant
(missense variant)
Andersen Tawil syndrome
+1 more
GUncertain significance
KCNJ2
(R46G)
Single nucleotide variant
(missense variant)
Andersen Tawil syndrome
+1 more
GUncertain significance
KCNJ2
(R46H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KCNJ2
Single nucleotide variant
(synonymous variant)
not provided
+4 more
GLikely benign
KCNJ2
(V48M)
Single nucleotide variant
(missense variant)
Andersen Tawil syndrome
+1 more
GUncertain significance
KCNJ2
(K50R)
Single nucleotide variant
(missense variant)
Andersen Tawil syndrome
+2 more
GUncertain significance
KCNJ2
(G52V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KCNJ2
(H53R)
Single nucleotide variant
(missense variant)
Andersen Tawil syndrome
+1 more
GUncertain significance
KCNJ2
(C54G)
Single nucleotide variant
(missense variant)
Short QT syndrome type 3
+1 more
GUncertain significance
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