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Links from MedGen

Items: 1 to 100 of 432

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KCNJ2
(V200M)
Single nucleotide variant
(missense variant)
Andersen Tawil syndrome
GLikely pathogenic
KCNJ2
Deletion
Andersen Tawil syndrome
+1 more
GUncertain significance
KCNJ2
Single nucleotide variant
(synonymous variant)
Short QT syndrome type 3
+1 more
GLikely benign
KCNJ2
(E327K)
Single nucleotide variant
(missense variant)
Andersen Tawil syndrome
+1 more
GUncertain significance
KCNJ2
(M84T)
Single nucleotide variant
(missense variant)
Andersen Tawil syndrome
+2 more
GUncertain significance
KCNJ2
Single nucleotide variant
(synonymous variant)
Andersen Tawil syndrome
+1 more
GLikely benign
KCNJ2
(P415H)
Single nucleotide variant
(missense variant)
Andersen Tawil syndrome
+1 more
GUncertain significance
KCNJ2
(E153D)
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
(I248T)
Single nucleotide variant
(missense variant)
Andersen Tawil syndrome
+1 more
GUncertain significance
KCNJ2
(E241K)
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
(T308M)
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
(R213Q)
Single nucleotide variant
(missense variant)
Andersen Tawil syndrome
+1 more
GUncertain significance
KCNJ2
(G206D)
Single nucleotide variant
(missense variant)
Andersen Tawil syndrome
+1 more
GUncertain significance
KCNJ2
(M24V)
Single nucleotide variant
(missense variant)
Short QT syndrome type 3
+1 more
GUncertain significance
KCNJ2
Single nucleotide variant
(synonymous variant)
Andersen Tawil syndrome
+1 more
GLikely benign
KCNJ2
(I248M)
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
(L109H)
Single nucleotide variant
(missense variant)
Short QT syndrome type 3
+1 more
GUncertain significance
KCNJ2
(K36E)
Single nucleotide variant
(missense variant)
Andersen Tawil syndrome
+1 more
GUncertain significance
KCNJ2
(T400A)
Single nucleotide variant
(missense variant)
Andersen Tawil syndrome
+1 more
GUncertain significance
KCNJ2
(I137T)
Single nucleotide variant
(missense variant)
Andersen Tawil syndrome
+1 more
GUncertain significance
KCNJ2
(L193R)
Single nucleotide variant
(missense variant)
Andersen Tawil syndrome
+1 more
GUncertain significance
KCNJ2
(R40L)
Single nucleotide variant
(missense variant)
Andersen Tawil syndrome
+1 more
GUncertain significance
KCNJ2
(L69F)
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
(stop lost)
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
(Y337C)
Single nucleotide variant
(missense variant)
Short QT syndrome type 3
+1 more
GUncertain significance
KCNJ2
(D78N)
Single nucleotide variant
(missense variant)
Andersen Tawil syndrome
+1 more
GUncertain significance
KCNJ2
(M211I)
Single nucleotide variant
(missense variant)
Andersen Tawil syndrome
+1 more
GUncertain significance
KCNJ2
(T75K)
Single nucleotide variant
(missense variant)
Andersen Tawil syndrome
+1 more
GUncertain significance
KCNJ2
(D401G)
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
(S196R)
Single nucleotide variant
(missense variant)
Short QT syndrome type 3
+1 more
GUncertain significance
KCNJ2
Single nucleotide variant
(synonymous variant)
Andersen Tawil syndrome
+1 more
GLikely benign
KCNJ2
(I106T)
Single nucleotide variant
(missense variant)
Andersen Tawil syndrome
+1 more
GUncertain significance
KCNJ2
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+2 more
GLikely benign
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
(R5G)
Single nucleotide variant
(missense variant)
Andersen Tawil syndrome
+1 more
GUncertain significance
KCNJ2
(S390I)
Single nucleotide variant
(missense variant)
Andersen Tawil syndrome
GUncertain significance
KCNJ2
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+2 more
GLikely benign
KCNJ2
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+2 more
GLikely benign
KCNJ2
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+2 more
GLikely benign
KCNJ2
(Y280C)
Single nucleotide variant
(missense variant)
Andersen Tawil syndrome
GUncertain significance
KCNJ2
(D112Y)
Single nucleotide variant
(missense variant)
Andersen Tawil syndrome
GUncertain significance
KCNJ2
(D255H)
Single nucleotide variant
(missense variant)
Andersen Tawil syndrome
+1 more
GUncertain significance
KCNJ2
(V194F)
Single nucleotide variant
(missense variant)
Andersen Tawil syndrome
+1 more
GUncertain significance
KCNJ2
(K185E)
Single nucleotide variant
(missense variant)
Andersen Tawil syndrome
+1 more
GUncertain significance
KCNJ2
(Y68C)
Single nucleotide variant
(missense variant)
Andersen Tawil syndrome
GUncertain significance
KCNJ2
Single nucleotide variant
(synonymous variant)
Short QT syndrome type 3
+1 more
GLikely benign
KCNJ2
Single nucleotide variant
(synonymous variant)
Short QT syndrome type 3
+1 more
GLikely benign
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
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
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
Single nucleotide variant
(synonymous variant)
Andersen Tawil syndrome
+2 more
GLikely benign
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
Single nucleotide variant
(synonymous variant)
Short QT syndrome type 3
+1 more
GLikely benign
KCNJ2
Single nucleotide variant
(synonymous variant)
Short QT syndrome type 3
+1 more
GLikely benign
KCNJ2
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+2 more
GLikely benign
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
Single nucleotide variant
(synonymous variant)
Andersen Tawil syndrome
+1 more
GLikely benign
KCNJ2
Single nucleotide variant
(synonymous variant)
Short QT syndrome type 3
+1 more
GLikely benign
KCNJ2
Single nucleotide variant
(synonymous variant)
Andersen Tawil syndrome
+1 more
GLikely benign
KCNJ2
(Y366N)
Single nucleotide variant
(missense variant)
Andersen Tawil syndrome
+1 more
GUncertain significance
KCNJ2
(K34N)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GConflicting classifications of pathogenicity
KCNJ2
(F159S)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
KCNJ2
(Y348C)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
KCNJ2
(R422W)
Single nucleotide variant
(missense variant)
Andersen Tawil syndrome
+1 more
GUncertain significance
KCNJ2
Duplication
Andersen Tawil syndrome
+1 more
GUncertain significance
KCNJ2
(I156V)
Single nucleotide variant
(missense variant)
Andersen Tawil syndrome
+2 more
GUncertain significance
KCNJ2
(V167M)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
KCNJ2
(N372K)
Single nucleotide variant
(missense variant)
Andersen Tawil syndrome
+1 more
GUncertain significance
KCNJ2
(N216Y)
Single nucleotide variant
(missense variant)
Andersen Tawil syndrome
+1 more
GLikely pathogenic
KCNJ2
(N372S)
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
(S124C)
Single nucleotide variant
(missense variant)
Andersen Tawil syndrome
+1 more
GUncertain significance
KCNJ2
(L97P)
Single nucleotide variant
(missense variant)
Andersen Tawil syndrome
+1 more
GUncertain significance
KCNJ2
(W212*)
Single nucleotide variant
(nonsense)
Andersen Tawil syndrome
+1 more
GUncertain significance
KCNJ2
(R260H)
Single nucleotide variant
(missense variant)
Andersen Tawil syndrome
+1 more
GLikely pathogenic
KCNJ2
(K64R)
Single nucleotide variant
(missense variant)
Short QT syndrome type 3
+1 more
GUncertain significance
KCNJ2
(R228Q)
Single nucleotide variant
(missense variant)
Andersen Tawil syndrome
+1 more
GUncertain significance
KCNJ2
(A202T)
Single nucleotide variant
(missense variant)
Andersen Tawil syndrome
+1 more
GUncertain significance
KCNJ2
(E293Q)
Single nucleotide variant
(missense variant)
Andersen Tawil syndrome
+1 more
GUncertain significance
KCNJ2
(N370S)
Single nucleotide variant
(missense variant)
Andersen Tawil syndrome
+1 more
GUncertain significance
KCNJ2
(R46C)
Single nucleotide variant
(missense variant)
Andersen Tawil syndrome
+1 more
GUncertain significance
KCNJ2
(L232F)
Single nucleotide variant
(missense variant)
Andersen Tawil syndrome
+3 more
GUncertain significance
KCNJ2
(K50R)
Single nucleotide variant
(missense variant)
Short QT syndrome type 3
+2 more
GUncertain significance
KCNJ2
(N60S)
Single nucleotide variant
(missense variant)
Short QT syndrome type 3
+2 more
GUncertain significance
KCNJ2
(S413I)
Single nucleotide variant
(missense variant)
Andersen Tawil syndrome
+1 more
GUncertain significance
KCNJ2
(L408F)
Single nucleotide variant
(missense variant)
Andersen Tawil syndrome
+1 more
GUncertain significance
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