U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 1 to 100 of 435

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KCNJ2
(T398N)
Single nucleotide variant
(missense variant)
Andersen Tawil syndrome
+1 more
GUncertain significance
KCNJ2
(C89R)
Single nucleotide variant
(missense variant)
Andersen Tawil syndrome
+1 more
GUncertain significance
KCNJ2
(G144V)
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
(I236L)
Single nucleotide variant
(missense variant)
Andersen Tawil syndrome
+1 more
GUncertain significance
KCNJ2
(G215C)
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
(V339L)
Single nucleotide variant
(missense variant)
Andersen Tawil syndrome
+1 more
GUncertain significance
KCNJ2
(A412V)
Single nucleotide variant
(missense variant)
Andersen Tawil syndrome
+1 more
GUncertain significance
KCNJ2
(V394A)
Single nucleotide variant
(missense variant)
Andersen Tawil syndrome
+1 more
GUncertain significance
KCNJ2
(I72V)
Single nucleotide variant
(missense variant)
Andersen Tawil syndrome
+1 more
GUncertain significance
KCNJ2
(I87M)
Single nucleotide variant
(missense variant)
Andersen Tawil syndrome
+1 more
GUncertain significance
KCNJ2
(T383R)
Single nucleotide variant
(missense variant)
Andersen Tawil syndrome
+1 more
GUncertain significance
KCNJ2
(V48M)
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
(S384N)
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
(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
(G18R)
Single nucleotide variant
(missense variant)
Andersen Tawil syndrome
+1 more
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
(N32K)
Single nucleotide variant
(missense variant)
Short QT syndrome type 3
+1 more
GUncertain significance
KCNJ2
(G2R)
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
(R422Q)
Single nucleotide variant
(missense variant)
Andersen Tawil syndrome
+1 more
GUncertain significance
KCNJ2
(M84I)
Single nucleotide variant
(missense variant)
Andersen Tawil syndrome
+1 more
GUncertain significance
KCNJ2
(M160V)
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
(T151M)
Single nucleotide variant
(missense variant)
Andersen Tawil syndrome
+1 more
GUncertain significance
KCNJ2
(A91V)
Single nucleotide variant
(missense variant)
Short QT syndrome type 3
+1 more
GUncertain significance
KCNJ2
Single nucleotide variant
(synonymous variant)
Short QT syndrome type 3
+1 more
GLikely benign
KCNJ2
(N318K)
Single nucleotide variant
(missense variant)
Short QT syndrome type 3
+1 more
GUncertain significance
KCNJ2
(Y336C)
Single nucleotide variant
(missense variant)
Short QT syndrome type 3
+1 more
GUncertain significance
KCNJ2
(A362E)
Single nucleotide variant
(missense variant)
Andersen Tawil syndrome
+1 more
GUncertain significance
KCNJ2
Single nucleotide variant
(missense variant)
Short QT syndrome type 3
GPathogenic
KCNJ2
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+2 more
GLikely benign
KCNJ2
Deletion
Andersen Tawil syndrome
+1 more
GUncertain significance
KCNJ2
Single nucleotide variant
(synonymous variant)
Andersen Tawil syndrome
+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)
not provided
+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
+2 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)
Andersen Tawil syndrome
+1 more
GUncertain significance
KCNJ2
Single nucleotide variant
(synonymous variant)
Andersen Tawil syndrome
+1 more
GLikely benign
KCNJ2
(I248M)
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
(L109H)
Single nucleotide variant
(missense variant)
Andersen Tawil syndrome
+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)
Short QT syndrome type 3
+1 more
GUncertain significance
KCNJ2
(I137T)
Single nucleotide variant
(missense variant)
Short QT syndrome type 3
+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)
Andersen Tawil syndrome
+1 more
GUncertain significance
KCNJ2
(D78N)
Single nucleotide variant
(missense variant)
Andersen Tawil syndrome
+1 more
GPathogenic
KCNJ2
(M211I)
Single nucleotide variant
(missense variant)
Short QT syndrome type 3
+1 more
GUncertain significance
KCNJ2
(T75K)
Single nucleotide variant
(missense variant)
Short QT syndrome type 3
+1 more
GUncertain significance
KCNJ2
(D401G)
Single nucleotide variant
(missense variant)
Short QT syndrome type 3
+1 more
GUncertain significance
KCNJ2
Single nucleotide variant
(synonymous variant)
Short QT syndrome type 3
+1 more
GLikely benign
KCNJ2
(S196R)
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
(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
+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
+2 more
GLikely benign
KCNJ2
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+2 more
GLikely benign
KCNJ2
Single nucleotide variant
(synonymous variant)
Andersen Tawil syndrome
+2 more
GLikely benign
KCNJ2
(D255H)
Single nucleotide variant
(missense variant)
Short QT syndrome type 3
+1 more
GUncertain significance
KCNJ2
(V194F)
Single nucleotide variant
(missense variant)
Short QT syndrome type 3
+1 more
GUncertain significance
KCNJ2
(K185E)
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
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
+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
Format
Items per page
Sort by
Choose Destination