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Links from MedGen

Items: 1 to 100 of 120

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KCNJ5
(E279K)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
KCNJ5
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+3 more
GLikely benign
KCNJ5
Indel
(intron variant)
Familial hyperaldosteronism type III
+2 more
GLikely benign
KCNJ5
(R50H)
Single nucleotide variant
(missense variant)
Long QT syndrome
+3 more
GUncertain significance
KCNJ5
(S75N)
Single nucleotide variant
(missense variant)
Familial hyperaldosteronism type III
+3 more
GUncertain significance
KCNJ5
(R87C)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
KCNJ5
(R319W)
Single nucleotide variant
(missense variant)
Familial hyperaldosteronism type III
+3 more
GUncertain significance
KCNJ5
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+3 more
GLikely benign
KCNJ5
Single nucleotide variant
(synonymous variant)
Long QT syndrome
+2 more
GLikely benign
KCNJ5
Single nucleotide variant
(synonymous variant)
Long QT syndrome 13
+3 more
GLikely benign
KCNJ5
(R211W)
Single nucleotide variant
(missense variant)
Familial hyperaldosteronism type III
+3 more
GUncertain significance
KCNJ5
(R332*)
Single nucleotide variant
(nonsense)
Long QT syndrome
+2 more
GUncertain significance
KCNJ5
(R416S)
Single nucleotide variant
(missense variant)
Familial hyperaldosteronism type III
+2 more
GUncertain significance
KCNJ5
(V178I)
Single nucleotide variant
(missense variant)
Long QT syndrome 13
+2 more
GUncertain significance
KCNJ5
(V92I)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
KCNJ5
(R50C)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
KCNJ5
(T40M)
Single nucleotide variant
(missense variant)
Familial hyperaldosteronism type III
+2 more
GUncertain significance
KCNJ5
(R72W)
Single nucleotide variant
(missense variant)
Long QT syndrome 13
+4 more
GConflicting classifications of pathogenicity
KCNJ5
Single nucleotide variant
(5 prime UTR variant)
Familial hyperaldosteronism type III
GUncertain significance
KCNJ5
Single nucleotide variant
(3 prime UTR variant)
Familial hyperaldosteronism type III
GUncertain significance
KCNJ5
Single nucleotide variant
(3 prime UTR variant)
Familial hyperaldosteronism type III
GUncertain significance
KCNJ5
Single nucleotide variant
(synonymous variant)
Familial hyperaldosteronism type III
GUncertain significance
KCNJ5
Single nucleotide variant
(5 prime UTR variant)
Familial hyperaldosteronism type III
GUncertain significance
KCNJ5
Single nucleotide variant
(5 prime UTR variant)
Familial hyperaldosteronism type III
GUncertain significance
KCNJ5
Single nucleotide variant
(5 prime UTR variant)
Familial hyperaldosteronism type III
GUncertain significance
KCNJ5
Single nucleotide variant
(5 prime UTR variant)
Familial hyperaldosteronism type III
GBenign
KCNJ5
Single nucleotide variant
(5 prime UTR variant)
Long QT syndrome 13
+1 more
GUncertain significance
KCNJ5
Single nucleotide variant
(3 prime UTR variant)
Familial hyperaldosteronism type III
GUncertain significance
KCNJ5
(R319Q)
Single nucleotide variant
(missense variant)
Familial hyperaldosteronism type III
GUncertain significance
KCNJ5
Single nucleotide variant
(5 prime UTR variant)
Familial hyperaldosteronism type III
+1 more
GConflicting classifications of pathogenicity
KCNJ5
Single nucleotide variant
(5 prime UTR variant)
Familial hyperaldosteronism type III
+1 more
GConflicting classifications of pathogenicity
KCNJ5
Single nucleotide variant
(5 prime UTR variant)
Familial hyperaldosteronism type III
+1 more
GConflicting classifications of pathogenicity
KCNJ5
Single nucleotide variant
(5 prime UTR variant)
Familial hyperaldosteronism type III
+1 more
GConflicting classifications of pathogenicity
KCNJ5
Single nucleotide variant
(5 prime UTR variant)
Familial hyperaldosteronism type III
GUncertain significance
KCNJ5
Single nucleotide variant
(5 prime UTR variant)
Familial hyperaldosteronism type III
GUncertain significance
KCNJ5
Single nucleotide variant
(3 prime UTR variant)
Familial hyperaldosteronism type III
GBenign
KCNJ5
Single nucleotide variant
(3 prime UTR variant)
Familial hyperaldosteronism type III
GUncertain significance
KCNJ5
(E159G)
Single nucleotide variant
(missense variant)
Familial hyperaldosteronism type III
GUncertain significance
KCNJ5
(Y152C)
Single nucleotide variant
(missense variant)
Familial hyperaldosteronism type III
GUncertain significance
KCNJ5
(K407R)
Single nucleotide variant
(missense variant)
Familial hyperaldosteronism type III
+2 more
GUncertain significance
KCNJ5
(R242Q)
Single nucleotide variant
(missense variant)
Familial hyperaldosteronism type III
+2 more
GUncertain significance
KCNJ5
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+3 more
GLikely benign
KCNJ5
Single nucleotide variant
(synonymous variant)
not provided
+4 more
GBenign/Likely benign
KCNJ5
Single nucleotide variant
(synonymous variant)
Long QT syndrome
+4 more
GBenign/Likely benign
KCNJ5
(R225H)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GUncertain significance
KCNJ5
Single nucleotide variant
(synonymous variant)
Long QT syndrome
+4 more
GLikely benign
KCNJ5
(A396T)
Single nucleotide variant
(missense variant)
Familial hyperaldosteronism type III
+3 more
GUncertain significance
KCNJ5
Single nucleotide variant
(synonymous variant)
Long QT syndrome 13
+3 more
GLikely benign
KCNJ5
Single nucleotide variant
(synonymous variant)
Long QT syndrome
+4 more
GBenign/Likely benign
KCNJ5
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+5 more
GBenign/Likely benign
KCNJ5
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GLikely benign
KCNJ5
(D123N)
Single nucleotide variant
(missense variant)
Long QT syndrome
+2 more
GUncertain significance
KCNJ5
(E147K)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+5 more
GUncertain significance
KCNJ5
(G222D)
Single nucleotide variant
(missense variant)
Long QT syndrome 13
+3 more
GUncertain significance
KCNJ5
(D395A)
Single nucleotide variant
(missense variant)
Familial hyperaldosteronism type III
+2 more
GUncertain significance
KCNJ5
Single nucleotide variant
(3 prime UTR variant)
Congenital long QT syndrome
+1 more
GBenign/Likely benign
KCNJ5
Single nucleotide variant
(3 prime UTR variant)
Familial hyperaldosteronism type III
+1 more
GBenign/Likely benign
KCNJ5
Single nucleotide variant
(3 prime UTR variant)
Familial hyperaldosteronism type III
+1 more
GBenign/Likely benign
KCNJ5
Single nucleotide variant
(3 prime UTR variant)
Familial hyperaldosteronism type III
+2 more
GBenign
KCNJ5
Single nucleotide variant
(3 prime UTR variant)
Congenital long QT syndrome
+1 more
GUncertain significance
KCNJ5
Single nucleotide variant
(3 prime UTR variant)
Familial hyperaldosteronism type III
+2 more
GBenign/Likely benign
KCNJ5
Single nucleotide variant
(3 prime UTR variant)
Familial hyperaldosteronism type III
+2 more
GBenign
KCNJ5
Single nucleotide variant
(3 prime UTR variant)
Familial hyperaldosteronism type III
+1 more
GUncertain significance
KCNJ5
Single nucleotide variant
(3 prime UTR variant)
Familial hyperaldosteronism type III
+1 more
GUncertain significance
KCNJ5
Single nucleotide variant
(3 prime UTR variant)
Familial hyperaldosteronism type III
+1 more
GBenign/Likely benign
KCNJ5
Single nucleotide variant
(3 prime UTR variant)
not provided
+2 more
GBenign
KCNJ5
Single nucleotide variant
(3 prime UTR variant)
Familial hyperaldosteronism type III
+1 more
GConflicting classifications of pathogenicity
KCNJ5
Single nucleotide variant
(3 prime UTR variant)
Familial hyperaldosteronism type III
+2 more
GBenign/Likely benign
KCNJ5
Single nucleotide variant
(3 prime UTR variant)
Familial hyperaldosteronism type III
+2 more
GUncertain significance
KCNJ5
Single nucleotide variant
(3 prime UTR variant)
not provided
+2 more
GBenign
KCNJ5
Single nucleotide variant
(3 prime UTR variant)
Familial hyperaldosteronism type III
+2 more
GBenign
KCNJ5
Single nucleotide variant
(3 prime UTR variant)
Familial hyperaldosteronism type III
+2 more
GBenign
KCNJ5
Single nucleotide variant
(3 prime UTR variant)
Familial hyperaldosteronism type III
+2 more
GBenign/Likely benign
KCNJ5
Single nucleotide variant
(3 prime UTR variant)
Familial hyperaldosteronism type III
+1 more
GUncertain significance
KCNJ5
Single nucleotide variant
(3 prime UTR variant)
Familial hyperaldosteronism type III
+1 more
GUncertain significance
KCNJ5
Single nucleotide variant
(3 prime UTR variant)
Congenital long QT syndrome
+1 more
GBenign/Likely benign
KCNJ5
Single nucleotide variant
(3 prime UTR variant)
Familial hyperaldosteronism type III
+1 more
GBenign
KCNJ5
Single nucleotide variant
(3 prime UTR variant)
Familial hyperaldosteronism type III
GLikely benign
KCNJ5
Single nucleotide variant
(3 prime UTR variant)
Congenital long QT syndrome
+1 more
GBenign
KCNJ5
Single nucleotide variant
(3 prime UTR variant)
Familial hyperaldosteronism type III
+1 more
GUncertain significance
KCNJ5
Single nucleotide variant
(3 prime UTR variant)
Familial hyperaldosteronism type III
+1 more
GUncertain significance
KCNJ5
Single nucleotide variant
(3 prime UTR variant)
Familial hyperaldosteronism type III
+1 more
GBenign/Likely benign
KCNJ5
Single nucleotide variant
(3 prime UTR variant)
Familial hyperaldosteronism type III
+1 more
GUncertain significance
KCNJ5
Single nucleotide variant
(3 prime UTR variant)
Congenital long QT syndrome
+2 more
GBenign/Likely benign
KCNJ5
Single nucleotide variant
(3 prime UTR variant)
not provided
+2 more
GBenign/Likely benign
KCNJ5
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+3 more
GBenign/Likely benign
KCNJ5
(M323T)
Single nucleotide variant
(missense variant)
Familial hyperaldosteronism type III
+2 more
GUncertain significance
KCNJ5
(R267H)
Single nucleotide variant
(missense variant)
Familial hyperaldosteronism type III
+2 more
GUncertain significance
KCNJ5
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+5 more
GBenign/Likely benign
KCNJ5
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+3 more
GConflicting classifications of pathogenicity
KCNJ5
(I144V)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+5 more
GConflicting classifications of pathogenicity
KCNJ5
Single nucleotide variant
(synonymous variant)
Familial hyperaldosteronism
+7 more
GBenign/Likely benign
KCNJ5
Single nucleotide variant
(5 prime UTR variant)
Familial hyperaldosteronism type III
+1 more
GConflicting classifications of pathogenicity
KCNJ5
Single nucleotide variant
(5 prime UTR variant)
Familial hyperaldosteronism type III
+1 more
GUncertain significance
KCNJ5
Single nucleotide variant
(5 prime UTR variant)
Familial hyperaldosteronism type III
+1 more
GUncertain significance
KCNJ5
Single nucleotide variant
(5 prime UTR variant)
Familial hyperaldosteronism type III
+2 more
GUncertain significance
KCNJ5
Single nucleotide variant
(5 prime UTR variant)
Familial hyperaldosteronism type III
+1 more
GUncertain significance
KCNJ5
Single nucleotide variant
(5 prime UTR variant)
Familial hyperaldosteronism type III
+1 more
GUncertain significance
KCNJ5
Microsatellite
(5 prime UTR variant)
Congenital long QT syndrome
+3 more
GUncertain significance
KCNJ5
Microsatellite
(5 prime UTR variant)
Congenital long QT syndrome
+3 more
GUncertain significance
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