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Links from MedGen

Items: 1 to 100 of 122

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KCNJ2
(L232F)
Single nucleotide variant
(missense variant)
Atrial fibrillation, familial, 9
+3 more
GUncertain significance
KCNJ2
(K50R)
Single nucleotide variant
(missense variant)
Andersen Tawil syndrome
+2 more
GUncertain significance
KCNJ2
(L108V)
Single nucleotide variant
(missense variant)
Andersen Tawil syndrome
+2 more
GUncertain significance
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
(3 prime UTR variant)
Andersen Tawil syndrome
+3 more
GBenign
KCNJ2
Single nucleotide variant
(3 prime UTR variant)
Andersen Tawil syndrome
+3 more
GBenign
KCNJ2
Single nucleotide variant
(3 prime UTR variant)
not provided
+3 more
GConflicting classifications of pathogenicity
KCNJ2
Single nucleotide variant
(3 prime UTR variant)
Atrial fibrillation, familial, 9
+2 more
GUncertain significance
KCNJ2
Single nucleotide variant
(3 prime UTR variant)
Atrial fibrillation, familial, 9
+2 more
GUncertain significance
KCNJ2
Single nucleotide variant
(3 prime UTR variant)
Atrial fibrillation, familial, 9
+2 more
GConflicting classifications of pathogenicity
KCNJ2
Single nucleotide variant
(3 prime UTR variant)
Atrial fibrillation, familial, 9
+2 more
GConflicting classifications of pathogenicity
KCNJ2
Single nucleotide variant
(3 prime UTR variant)
Atrial fibrillation, familial, 9
+2 more
GUncertain significance
KCNJ2
Single nucleotide variant
(3 prime UTR variant)
not provided
+3 more
GConflicting classifications of pathogenicity
KCNJ2
Single nucleotide variant
(3 prime UTR variant)
Atrial fibrillation, familial, 9
+2 more
GUncertain significance
KCNJ2
Single nucleotide variant
(3 prime UTR variant)
Atrial fibrillation, familial, 9
+3 more
GBenign
KCNJ2
Single nucleotide variant
(3 prime UTR variant)
Atrial fibrillation, familial, 9
+2 more
GUncertain significance
KCNJ2
Single nucleotide variant
(3 prime UTR variant)
Andersen Tawil syndrome
+2 more
GUncertain significance
KCNJ2
(P404R)
Single nucleotide variant
(missense variant)
Atrial fibrillation, familial, 9
+2 more
GUncertain significance
KCNJ2
(R8C)
Single nucleotide variant
(missense variant)
Atrial fibrillation, familial, 9
+3 more
GUncertain significance
KCNJ2
Single nucleotide variant
(3 prime UTR variant)
Atrial fibrillation, familial, 9
+2 more
GUncertain significance
KCNJ2
Single nucleotide variant
(3 prime UTR variant)
Atrial fibrillation, familial, 9
+2 more
GUncertain significance
KCNJ2
Single nucleotide variant
(3 prime UTR variant)
Andersen Tawil syndrome
+2 more
GUncertain significance
KCNJ2
Single nucleotide variant
(3 prime UTR variant)
Atrial fibrillation, familial, 9
+2 more
GUncertain significance
KCNJ2
Single nucleotide variant
(3 prime UTR variant)
Atrial fibrillation, familial, 9
+2 more
GConflicting classifications of pathogenicity
KCNJ2
Single nucleotide variant
(3 prime UTR variant)
Atrial fibrillation, familial, 9
+2 more
GConflicting classifications of pathogenicity
KCNJ2
Single nucleotide variant
(3 prime UTR variant)
Andersen Tawil syndrome
+2 more
GUncertain significance
KCNJ2
Single nucleotide variant
(3 prime UTR variant)
Andersen Tawil syndrome
+2 more
GUncertain significance
KCNJ2
Single nucleotide variant
(3 prime UTR variant)
Andersen Tawil syndrome
+2 more
GConflicting classifications of pathogenicity
KCNJ2
Single nucleotide variant
(synonymous variant)
Andersen Tawil syndrome
+3 more
GConflicting classifications of pathogenicity
KCNJ2
(D114G)
Single nucleotide variant
(missense variant)
Andersen Tawil syndrome
+2 more
GUncertain significance
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)
Atrial fibrillation, familial, 9
+2 more
GUncertain significance
KCNJ2
Single nucleotide variant
(3 prime UTR variant)
Atrial fibrillation, familial, 9
+2 more
GUncertain significance
KCNJ2
Single nucleotide variant
(3 prime UTR variant)
Andersen Tawil syndrome
+2 more
GUncertain significance
KCNJ2
Single nucleotide variant
(3 prime UTR variant)
Andersen Tawil syndrome
+3 more
GConflicting classifications of pathogenicity
KCNJ2
Single nucleotide variant
(3 prime UTR variant)
Short QT syndrome type 3
+2 more
GUncertain significance
KCNJ2
Single nucleotide variant
(3 prime UTR variant)
Short QT syndrome type 3
+2 more
GUncertain significance
KCNJ2
Single nucleotide variant
(3 prime UTR variant)
Short QT syndrome type 3
+2 more
GUncertain significance
KCNJ2
Single nucleotide variant
(3 prime UTR variant)
Atrial fibrillation, familial, 9
+2 more
GUncertain significance
KCNJ2
Single nucleotide variant
(3 prime UTR variant)
Short QT syndrome type 3
+2 more
GUncertain significance
KCNJ2
Single nucleotide variant
(3 prime UTR variant)
Short QT syndrome type 3
+2 more
GUncertain significance
KCNJ2
Single nucleotide variant
(3 prime UTR variant)
Short QT syndrome type 3
+2 more
GUncertain significance
KCNJ2
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+4 more
GConflicting classifications of pathogenicity
KCNJ2
(E299G)
Single nucleotide variant
(missense variant)
Andersen Tawil syndrome
+2 more
GLikely pathogenic
KCNJ2
(L282W)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+4 more
GConflicting classifications of pathogenicity
KCNJ2
(N251S)
Single nucleotide variant
(missense variant)
Atrial fibrillation, familial, 9
+3 more
GUncertain significance
KCNJ2
(C101F)
Single nucleotide variant
(missense variant)
Short QT syndrome type 3
+3 more
GUncertain significance
KCNJ2
(R325H)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
KCNJ2
(A70S)
Single nucleotide variant
(missense variant)
Andersen Tawil syndrome
+5 more
GConflicting classifications of pathogenicity
KCNJ2
Single nucleotide variant
(synonymous variant)
Andersen Tawil syndrome
+4 more
GConflicting classifications of pathogenicity
KCNJ2
Single nucleotide variant
(synonymous variant)
Atrial fibrillation, familial, 9
+4 more
GConflicting classifications of pathogenicity
KCNJ2
Single nucleotide variant
(3 prime UTR variant)
Short QT syndrome type 3
+2 more
GUncertain significance
KCNJ2
Single nucleotide variant
(3 prime UTR variant)
Short QT syndrome type 3
+2 more
GUncertain significance
KCNJ2
Single nucleotide variant
(3 prime UTR variant)
Short QT syndrome type 3
+2 more
GBenign
KCNJ2
Single nucleotide variant
(3 prime UTR variant)
Short QT syndrome type 3
+2 more
GUncertain significance
KCNJ2
Single nucleotide variant
(3 prime UTR variant)
Short QT syndrome type 3
+2 more
GUncertain significance
KCNJ2
Single nucleotide variant
(3 prime UTR variant)
Short QT syndrome type 3
+3 more
GConflicting classifications of pathogenicity
KCNJ2
Single nucleotide variant
(3 prime UTR variant)
Andersen Tawil syndrome
+3 more
GConflicting classifications of pathogenicity
KCNJ2
Single nucleotide variant
(3 prime UTR variant)
Short QT syndrome type 3
+2 more
GUncertain significance
KCNJ2
Single nucleotide variant
(3 prime UTR variant)
Short QT syndrome type 3
+3 more
GConflicting classifications of pathogenicity
KCNJ2
Single nucleotide variant
(3 prime UTR variant)
Atrial fibrillation, familial, 9
+2 more
GUncertain significance
KCNJ2
Single nucleotide variant
(3 prime UTR variant)
not provided
+3 more
GConflicting classifications of pathogenicity
KCNJ2
Duplication
(3 prime UTR variant)
Andersen Tawil syndrome
+4 more
GUncertain significance
KCNJ2
Single nucleotide variant
(3 prime UTR variant)
Andersen Tawil syndrome
+2 more
GUncertain significance
KCNJ2
Single nucleotide variant
(3 prime UTR variant)
Andersen Tawil syndrome
+2 more
GUncertain significance
KCNJ2
Single nucleotide variant
(3 prime UTR variant)
Andersen Tawil syndrome
+2 more
GUncertain significance
KCNJ2
Single nucleotide variant
(3 prime UTR variant)
Atrial fibrillation, familial, 9
+2 more
GUncertain significance
KCNJ2
Single nucleotide variant
(3 prime UTR variant)
Short QT syndrome type 3
+2 more
GUncertain significance
KCNJ2
Single nucleotide variant
(3 prime UTR variant)
Short QT syndrome type 3
+2 more
GUncertain significance
KCNJ2
Single nucleotide variant
(3 prime UTR variant)
Short QT syndrome type 3
+2 more
GUncertain significance
KCNJ2
Single nucleotide variant
(3 prime UTR variant)
Short QT syndrome type 3
+3 more
GConflicting classifications of pathogenicity
KCNJ2
Single nucleotide variant
(3 prime UTR variant)
Atrial fibrillation, familial, 9
+2 more
GUncertain significance
KCNJ2
Single nucleotide variant
(3 prime UTR variant)
Short QT syndrome type 3
+2 more
GConflicting classifications of pathogenicity
KCNJ2
Single nucleotide variant
(3 prime UTR variant)
Short QT syndrome type 3
+2 more
GUncertain significance
KCNJ2
Single nucleotide variant
(3 prime UTR variant)
Andersen Tawil syndrome
+2 more
GUncertain significance
KCNJ2
Single nucleotide variant
(3 prime UTR variant)
not provided
+3 more
GBenign/Likely benign
KCNJ2
Single nucleotide variant
(3 prime UTR variant)
Andersen Tawil syndrome
+2 more
GUncertain significance
KCNJ2
Single nucleotide variant
(3 prime UTR variant)
Andersen Tawil syndrome
+2 more
GUncertain significance
KCNJ2
Single nucleotide variant
(3 prime UTR variant)
Short QT syndrome type 3
+2 more
GUncertain significance
KCNJ2
Single nucleotide variant
(3 prime UTR variant)
Short QT syndrome type 3
+3 more
GBenign/Likely benign
KCNJ2
Single nucleotide variant
(3 prime UTR variant)
not provided
+3 more
GBenign
KCNJ2
Single nucleotide variant
(3 prime UTR variant)
Short QT syndrome type 3
+3 more
GBenign
KCNJ2
Single nucleotide variant
(3 prime UTR variant)
Short QT syndrome type 3
+3 more
GBenign
KCNJ2
Duplication
(3 prime UTR variant)
Familial atrial fibrillation
+4 more
GUncertain significance
KCNJ2
Single nucleotide variant
(3 prime UTR variant)
Short QT syndrome type 3
+2 more
GBenign/Likely benign
KCNJ2
Single nucleotide variant
(3 prime UTR variant)
Short QT syndrome type 3
+3 more
GBenign
KCNJ2
Single nucleotide variant
(3 prime UTR variant)
Short QT syndrome type 3
+2 more
GConflicting classifications of pathogenicity
KCNJ2
Single nucleotide variant
(3 prime UTR variant)
Short QT syndrome type 3
+3 more
GBenign
KCNJ2
Single nucleotide variant
(3 prime UTR variant)
Short QT syndrome type 3
+2 more
GConflicting classifications of pathogenicity
KCNJ2
Single nucleotide variant
(3 prime UTR variant)
Short QT syndrome type 3
+2 more
GConflicting classifications of pathogenicity
KCNJ2
Single nucleotide variant
(3 prime UTR variant)
Atrial fibrillation, familial, 9
+2 more
GUncertain significance
KCNJ2
Single nucleotide variant
(3 prime UTR variant)
Short QT syndrome type 3
+3 more
GBenign
KCNJ2
Single nucleotide variant
(3 prime UTR variant)
Atrial fibrillation, familial, 9
+2 more
GUncertain significance
KCNJ2
Single nucleotide variant
(3 prime UTR variant)
not provided
+3 more
GBenign
KCNJ2
Single nucleotide variant
(3 prime UTR variant)
Andersen Tawil syndrome
+2 more
GUncertain significance
KCNJ2
Single nucleotide variant
(3 prime UTR variant)
Short QT syndrome type 3
+3 more
GConflicting classifications of pathogenicity
KCNJ2
Single nucleotide variant
(3 prime UTR variant)
not provided
+3 more
GBenign
KCNJ2
Single nucleotide variant
(3 prime UTR variant)
Andersen Tawil syndrome
+2 more
GUncertain significance
KCNJ2
Single nucleotide variant
(3 prime UTR variant)
Andersen Tawil syndrome
+2 more
GUncertain significance
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