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 167

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KCNH2
(R188fs +1 more)
Deletion
(frameshift variant)
Long QT syndrome 2
+1 more
GPathogenic
KCNH2
(A185T +3 more)
Single nucleotide variant
(missense variant)
Long QT syndrome
+3 more
GUncertain significance
KCNH2
(I344V +4 more)
Single nucleotide variant
(missense variant)
Long QT syndrome
+2 more
GUncertain significance
KCNH2
(P300L +3 more)
Single nucleotide variant
(missense variant)
Long QT syndrome
+2 more
GUncertain significance
KCNH2
Single nucleotide variant
(intron variant)
Long QT syndrome
+3 more
GConflicting classifications of pathogenicity
KCNH2
(N819K +1 more)
Single nucleotide variant
(missense variant)
Long QT syndrome
+2 more
GUncertain significance
KCNH2
(P1125A +1 more)
Single nucleotide variant
(missense variant)
Long QT syndrome
+2 more
GUncertain significance
KCNH2
(P251S +3 more)
Indel
(missense variant +1 more)
Long QT syndrome
+2 more
GUncertain significance
KCNH2
(S284N +4 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GUncertain significance
KCNH2
Single nucleotide variant
(intron variant)
not provided
+3 more
GBenign/Likely benign
KCNH2
Single nucleotide variant
(intron variant)
Long QT syndrome
+3 more
GBenign/Likely benign
KCNH2
(R552H +1 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
KCNH2
(T145I +3 more)
Single nucleotide variant
(missense variant)
Short QT syndrome type 1
+2 more
GUncertain significance
KCNH2
(W927C +1 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
KCNH2
(L1136F +1 more)
Single nucleotide variant
(missense variant)
Short QT syndrome type 1
+2 more
GUncertain significance
KCNH2
(R1005W +1 more)
Single nucleotide variant
(missense variant)
Short QT syndrome type 1
+2 more
GUncertain significance
KCNH2
(T559K +1 more)
Single nucleotide variant
(missense variant)
Short QT syndrome type 1
+2 more
GUncertain significance
KCNH2
(A79T +1 more)
Single nucleotide variant
(missense variant)
Long QT syndrome
+4 more
GUncertain significance
KCNH2
(A650T +1 more)
Single nucleotide variant
(missense variant)
Short QT syndrome type 1
+3 more
GUncertain significance
KCNH2
(A160S +3 more)
Single nucleotide variant
(missense variant)
Long QT syndrome
+3 more
GUncertain significance
KCNH2
(V796L +4 more)
Single nucleotide variant
(missense variant)
Short QT syndrome type 1
+2 more
GUncertain significance
KCNH2
(R541C +4 more)
Single nucleotide variant
(missense variant)
Cardiac arrhythmia
+3 more
GUncertain significance
KCNH2
(P393L +4 more)
Single nucleotide variant
(missense variant)
Long QT syndrome
+2 more
GUncertain significance
KCNH2
(M137V +3 more)
Single nucleotide variant
(missense variant)
Short QT syndrome type 1
GUncertain significance
KCNH2
(T895K +1 more)
Single nucleotide variant
(missense variant)
Long QT syndrome 2
+4 more
GUncertain significance
KCNH2
(R883W +1 more)
Single nucleotide variant
(missense variant)
Long QT syndrome 2
+5 more
GUncertain significance
KCNH2
(R547G +1 more)
Single nucleotide variant
(missense variant)
Cardiac arrhythmia
+3 more
GUncertain significance
KCNH2
(R404Q +4 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+4 more
GUncertain significance
KCNH2
(T13N)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
+5 more
GUncertain significance
KCNH2
(G585E +1 more)
Single nucleotide variant
(missense variant)
Long QT syndrome 2
+3 more
GUncertain significance
KCNH2
Microsatellite
(5 prime UTR variant)
Long QT syndrome 2
+2 more
GUncertain significance
KCNH2
(C637W +1 more)
Single nucleotide variant
(missense variant)
Long QT syndrome 2
+3 more
GUncertain significance
KCNH2
Single nucleotide variant
(synonymous variant +1 more)
Long QT syndrome 2
+3 more
GConflicting classifications of pathogenicity
KCNH2
Microsatellite
(inframe_indel +1 more)
not specified
+3 more
GUncertain significance
KCNH2
(T559M +1 more)
Single nucleotide variant
(missense variant)
Cardiac arrhythmia
+5 more
GUncertain significance
KCNH2
(F881I +1 more)
Single nucleotide variant
(missense variant)
Cardiac arrhythmia
+4 more
GUncertain significance
KCNH2
(R57H +4 more)
Single nucleotide variant
(missense variant)
KCNH2-related disorder
+5 more
GUncertain significance
KCNH2
(G588E +1 more)
Single nucleotide variant
(missense variant)
Short QT syndrome type 1
+2 more
GUncertain significance
KCNH2
(P690L +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+5 more
GUncertain significance
KCNH2
Duplication
(inframe_insertion)
Long QT syndrome
+3 more
GUncertain significance
KCNH2
(S1107L +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
KCNH2
(P205L +3 more)
Single nucleotide variant
(missense variant)
Long QT syndrome 2
+1 more
GUncertain significance
KCNH2
Single nucleotide variant
(synonymous variant +1 more)
Long QT syndrome
+4 more
GConflicting classifications of pathogenicity
KCNH2
(R354C +4 more)
Single nucleotide variant
(missense variant)
Cardiac arrhythmia
+4 more
GUncertain significance
KCNH2
(R76L +1 more)
Single nucleotide variant
(missense variant)
Long QT syndrome 2
+4 more
GUncertain significance
KCNH2
(E944D +1 more)
Single nucleotide variant
(missense variant)
Cardiac arrhythmia
+3 more
GUncertain significance
KCNH2
(E357D +3 more)
Single nucleotide variant
(missense variant)
Long QT syndrome 2
+3 more
GUncertain significance
KCNH2
(R1047H +1 more)
Single nucleotide variant
(missense variant)
Long QT syndrome 2
+4 more
GUncertain significance
KCNH2
Single nucleotide variant
(intron variant)
not provided
+3 more
GConflicting classifications of pathogenicity
KCNH2
(R148Q +3 more)
Single nucleotide variant
(missense variant)
Long QT syndrome 2
+5 more
GConflicting classifications of pathogenicity
KCNH2
(A1017S +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+5 more
GUncertain significance
KCNH2
Single nucleotide variant
(synonymous variant)
Long QT syndrome 2
+5 more
GLikely benign
KCNH2
(A228P +3 more)
Single nucleotide variant
(missense variant +1 more)
Long QT syndrome 2
+3 more
GUncertain significance
KCNH2
(E604D +1 more)
Single nucleotide variant
(missense variant)
Long QT syndrome 2
+3 more
GUncertain significance
KCNH2
Single nucleotide variant
(synonymous variant)
Short QT syndrome type 1
+5 more
GBenign/Likely benign
KCNH2
(G584W +1 more)
Single nucleotide variant
(missense variant)
Short QT syndrome type 1
+4 more
GUncertain significance
KCNH2
Single nucleotide variant
(synonymous variant)
Short QT syndrome type 1
+5 more
GLikely benign
KCNH2
Single nucleotide variant
(synonymous variant +1 more)
Long QT syndrome
+3 more
GBenign/Likely benign
KCNH2
(P258L +3 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
KCNH2
(P1084L +1 more)
Single nucleotide variant
(missense variant)
Long QT syndrome 2
+4 more
GUncertain significance
KCNH2
(A442V +4 more)
Single nucleotide variant
(missense variant)
Short QT syndrome type 1
+2 more
GUncertain significance
KCNH2
(V69M +4 more)
Single nucleotide variant
(missense variant)
Long QT syndrome 2
+3 more
GUncertain significance
KCNH2
(C39R)
Single nucleotide variant
(missense variant)
KCNH2-related disorder
+5 more
GUncertain significance
KCNH2
Single nucleotide variant
(synonymous variant +1 more)
Cardiovascular phenotype
+4 more
GConflicting classifications of pathogenicity
KCNH2
Single nucleotide variant
(intron variant)
not provided
+5 more
GBenign/Likely benign
KCNH2
(P151A +3 more)
Single nucleotide variant
(missense variant)
Short QT syndrome type 1
+4 more
GUncertain significance
KCNH2
(D119H +3 more)
Single nucleotide variant
(missense variant)
Long QT syndrome
+4 more
GConflicting classifications of pathogenicity
KCNH2
(N317S +3 more)
Single nucleotide variant
(missense variant)
Short QT syndrome type 1
+3 more
GUncertain significance
KCNH2
(S206I +3 more)
Indel
(missense variant)
Short QT syndrome type 1
+4 more
GUncertain significance
KCNH2
Single nucleotide variant
(intron variant)
not specified
+4 more
GConflicting classifications of pathogenicity
KCNH2
Microsatellite
(inframe_insertion)
not specified
+6 more
GUncertain significance
KCNH2
(R545H +1 more)
Single nucleotide variant
(missense variant)
not provided
+6 more
GUncertain significance
KCNH2
Single nucleotide variant
(synonymous variant +1 more)
Short QT syndrome type 1
+5 more
GBenign/Likely benign
KCNH2
(A8V)
Single nucleotide variant
(missense variant +2 more)
Long QT syndrome
+5 more
GConflicting classifications of pathogenicity
KCNH2
(M291R +3 more)
Single nucleotide variant
(missense variant)
Short QT syndrome type 1
+3 more
GUncertain significance
KCNH2
Single nucleotide variant
(synonymous variant +2 more)
Cardiac arrhythmia
+1 more
GBenign/Likely benign
KCNH2
Single nucleotide variant
(5 prime UTR variant)
Short QT syndrome type 1
+1 more
GUncertain significance
KCNH2
(P1139L +1 more)
Single nucleotide variant
(missense variant)
Short QT syndrome type 1
+2 more
GUncertain significance
KCNH2
(T1146S +1 more)
Single nucleotide variant
(missense variant)
Cardiac arrhythmia
+5 more
GConflicting classifications of pathogenicity
KCNH2
(R232L +3 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GUncertain significance
KCNH2
Single nucleotide variant
(synonymous variant +2 more)
not specified
+4 more
GLikely benign
KCNH2
(D642N +1 more)
Single nucleotide variant
(missense variant)
Long QT syndrome 2
+5 more
GConflicting classifications of pathogenicity
KCNH2
(P628A +1 more)
Single nucleotide variant
(missense variant)
Long QT syndrome
+5 more
GUncertain significance
KCNH2
Single nucleotide variant
(synonymous variant +1 more)
Short QT syndrome type 1
+6 more
GBenign/Likely benign
KCNH2
(N462S +1 more)
Single nucleotide variant
(missense variant)
Long QT syndrome 2
+3 more
GUncertain significance
KCNH2
(G1006fs +1 more)
Deletion
(frameshift variant)
not provided
+3 more
GPathogenic
KCNH2
(L987fs +1 more)
Deletion
(frameshift variant)
Cardiovascular phenotype
+5 more
GPathogenic
KCNH2
Microsatellite
(inframe_indel +1 more)
Long QT syndrome 1
+6 more
GConflicting classifications of pathogenicity
KCNH2
(A9V)
Single nucleotide variant
(missense variant)
Long QT syndrome
+5 more
GUncertain significance
KCNH2
(T1083A +2 more)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
+5 more
GUncertain significance
KCNH2
(R1032W +1 more)
Single nucleotide variant
(missense variant)
Short QT syndrome type 1
+5 more
GConflicting classifications of pathogenicity
KCNH2
(W587L +1 more)
Single nucleotide variant
(missense variant)
Short QT syndrome type 1
+5 more
GConflicting classifications of pathogenicity
KCNH2
(G585A +2 more)
Single nucleotide variant
(missense variant)
Short QT syndrome type 1
+4 more
GUncertain significance
KCNH2
(G584R +2 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
KCNH2
(R580G +2 more)
Single nucleotide variant
(missense variant)
not provided
+5 more
GUncertain significance
KCNH2
(P529L +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+6 more
GUncertain significance
KCNH2
(R495Q +2 more)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
+4 more
GUncertain significance
KCNH2
(Q362* +4 more)
Single nucleotide variant
(nonsense)
not provided
+2 more
GPathogenic
KCNH2
(H238P +4 more)
Single nucleotide variant
(missense variant)
Long QT syndrome
+3 more
GUncertain significance
KCNH2
(V151I +4 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+6 more
GLikely benign
Format
Items per page
Sort by
Choose Destination