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Links from MedGen

Items: 1 to 100 of 397

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KCNH2
(S281R +4 more)
Single nucleotide variant
(missense variant +1 more)
Long QT syndrome 2
GPathogenic
KCNH2
(I267V +4 more)
Single nucleotide variant
(missense variant +1 more)
Long QT syndrome 2
GUncertain significance
KCNH2
(C215R +4 more)
Single nucleotide variant
(missense variant +1 more)
Long QT syndrome 2
GLikely pathogenic
KCNH2
(G1087fs +2 more)
Insertion
(frameshift variant +1 more)
Long QT syndrome 2
GLikely pathogenic
KCNH2
(W245* +4 more)
Single nucleotide variant
(nonsense +1 more)
Long QT syndrome 2
GLikely pathogenic
KCNH2
(E265fs +3 more)
Deletion
(frameshift variant +1 more)
Long QT syndrome 2
GLikely pathogenic
KCNH2
(S331fs)
Deletion
(frameshift variant)
Long QT syndrome 2
+1 more
GPathogenic
KCNH2
(E177* +3 more)
Single nucleotide variant
(nonsense)
Long QT syndrome 2
+1 more
GPathogenic
KCNH2
(T294P +4 more)
Single nucleotide variant
(missense variant)
Long QT syndrome 2
GUncertain significance
KCNH2
(N239Y +3 more)
Single nucleotide variant
(missense variant)
Long QT syndrome 2
GUncertain significance
KCNH2
(P1034fs +1 more)
Duplication
(frameshift variant)
Long QT syndrome
+1 more
GPathogenic
KCNH2
(M461I +4 more)
Single nucleotide variant
(missense variant +1 more)
Long QT syndrome 2
GLikely pathogenic
KCNH2
(R132H +4 more)
Single nucleotide variant
(missense variant)
Long QT syndrome
GUncertain significance
KCNH2
(R27fs)
Deletion
(frameshift variant)
Long QT syndrome 2
GLikely pathogenic
KCNH2
(E134* +3 more)
Single nucleotide variant
(nonsense)
Long QT syndrome 2
GLikely pathogenic
KCNH2
(R188fs +1 more)
Deletion
(frameshift variant)
Short QT syndrome type 1
+1 more
GPathogenic
KCNH2
(S579fs +1 more)
Duplication
(frameshift variant)
Long QT syndrome 2
GPathogenic
KCNH2
(D126A +4 more)
Single nucleotide variant
(missense variant)
Long QT syndrome 2
GPathogenic
KCNH2
(L248R +3 more)
Single nucleotide variant
(missense variant)
Long QT syndrome 2
GUncertain significance
KCNH2
(A185T +3 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GUncertain significance
KCNH2
(A244G +3 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
KCNH2
(I344V +4 more)
Single nucleotide variant
(missense variant)
Short QT syndrome type 1
+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)
not specified
+3 more
GConflicting classifications of pathogenicity
KCNH2
(N819K +1 more)
Single nucleotide variant
(missense variant)
Short QT syndrome type 1
+2 more
GUncertain significance
KCNH2
(P1125A +1 more)
Single nucleotide variant
(missense variant)
Long QT syndrome 2
+2 more
GUncertain significance
KCNH2
(P251S +3 more)
Indel
(missense variant +1 more)
Long QT syndrome 2
+2 more
GUncertain significance
KCNH2
(S284N +4 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GUncertain significance
KCNH2
(S140fs)
Deletion
(frameshift variant)
Long QT syndrome 2
GPathogenic
KCNH2
Single nucleotide variant
(splice donor variant)
Long QT syndrome
+1 more
GLikely pathogenic
KCNH2
Single nucleotide variant
(intron variant)
Long QT syndrome
+3 more
GBenign/Likely benign
KCNH2
(Q84R +1 more)
Single nucleotide variant
(missense variant)
Long QT syndrome 2
GUncertain significance
KCNH2
Single nucleotide variant
(intron variant)
not specified
+3 more
GBenign/Likely benign
KCNH2
(A78T +1 more)
Single nucleotide variant
(missense variant)
Long QT syndrome 2
+1 more
GPathogenic/Likely pathogenic
KCNH2
(Y135* +4 more)
Single nucleotide variant
(nonsense)
Long QT syndrome 2
GPathogenic
KCNH2
(R273* +3 more)
Single nucleotide variant
(nonsense)
not provided
+2 more
GPathogenic/Likely pathogenic
KCNH2
Indel
(intron variant)
Long QT syndrome 2
GLikely pathogenic
KCNH2
Deletion
(intron variant)
Long QT syndrome 2
GPathogenic
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)
Cardiovascular phenotype
+4 more
GUncertain significance
KCNH2
(L1136F +1 more)
Single nucleotide variant
(missense variant)
Long QT syndrome
+2 more
GUncertain significance
KCNH2
Single nucleotide variant
(intron variant)
Long QT syndrome 2
GUncertain significance
KCNH2
(L450P +4 more)
Single nucleotide variant
(missense variant)
Long QT syndrome 2
+1 more
GLikely pathogenic
KCNH2
(R523Q +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
KCNH2
Single nucleotide variant
(synonymous variant +1 more)
Long QT syndrome 2
+2 more
GConflicting classifications of pathogenicity
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
(R553fs +1 more)
Deletion
(frameshift variant)
Long QT syndrome 2
GLikely pathogenic
KCNH2
(F316fs +1 more)
Deletion
(frameshift variant)
Long QT syndrome 2
GPathogenic
KCNH2
(P617L +1 more)
Single nucleotide variant
(missense variant)
Long QT syndrome 2
GUncertain significance
KCNH2
(R345H +4 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
KCNH2
(A438T +4 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
KCNH2
(L192P +4 more)
Single nucleotide variant
(missense variant)
Long QT syndrome 2
+1 more
GConflicting classifications of pathogenicity
KCNH2
(I302M +4 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
KCNH2
(W410* +4 more)
Single nucleotide variant
(nonsense)
Long QT syndrome 2
GPathogenic
KCNH2
(C49F)
Single nucleotide variant
(missense variant)
Long QT syndrome 2
GLikely pathogenic
KCNH2
(Q335* +3 more)
Single nucleotide variant
(nonsense)
Long QT syndrome
GPathogenic
KCNH2
(A650T +1 more)
Single nucleotide variant
(missense variant)
Long QT syndrome
+3 more
GUncertain significance
KCNH2
(A160S +3 more)
Single nucleotide variant
(missense variant)
Short QT syndrome type 1
+3 more
GUncertain significance
KCNH2
(E698K +4 more)
Single nucleotide variant
(missense variant)
Long QT syndrome 2
+2 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
(T895K +1 more)
Single nucleotide variant
(missense variant)
Cardiac arrhythmia
+3 more
GUncertain significance
KCNH2
(R883W +1 more)
Single nucleotide variant
(missense variant)
Cardiac arrhythmia
+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)
Cardiac arrhythmia
+3 more
GUncertain significance
KCNH2
Microsatellite
(5 prime UTR variant)
Cardiac arrhythmia
+2 more
GUncertain significance
KCNH2
(C637W +1 more)
Single nucleotide variant
(missense variant)
Cardiac arrhythmia
+2 more
GUncertain significance
KCNH2
(T555R +1 more)
Single nucleotide variant
(missense variant)
Long QT syndrome
+2 more
GUncertain significance
KCNH2
Single nucleotide variant
(synonymous variant +1 more)
Long QT syndrome 2
+3 more
GConflicting classifications of pathogenicity
KCNH2
(S275R +3 more)
Single nucleotide variant
(missense variant)
Long QT syndrome 2
GUncertain significance
KCNH2
Single nucleotide variant
(synonymous variant +1 more)
Cardiovascular phenotype
+3 more
GConflicting classifications of pathogenicity
KCNH2
(D591N +4 more)
Single nucleotide variant
(missense variant)
Cardiac arrhythmia
+2 more
GUncertain significance
KCNH2
Single nucleotide variant
(synonymous variant)
Long QT syndrome 2
GUncertain significance
KCNH2
Single nucleotide variant
(3 prime UTR variant)
Long QT syndrome 2
GUncertain significance
KCNH2
Single nucleotide variant
(3 prime UTR variant)
Long QT syndrome 2
GUncertain significance
KCNH2
Single nucleotide variant
(3 prime UTR variant)
Long QT syndrome 2
GBenign
KCNH2
Single nucleotide variant
(synonymous variant +1 more)
Long QT syndrome 2
+4 more
GConflicting classifications of pathogenicity
KCNH2
Single nucleotide variant
(3 prime UTR variant)
Long QT syndrome 2
GUncertain significance
KCNH2
Single nucleotide variant
(3 prime UTR variant)
Long QT syndrome 2
+1 more
GBenign/Likely benign
KCNH2
Single nucleotide variant
(3 prime UTR variant)
Long QT syndrome 2
GUncertain significance
KCNH2
Single nucleotide variant
(5 prime UTR variant)
Long QT syndrome 2
GUncertain significance
KCNH2
Single nucleotide variant
(5 prime UTR variant)
Long QT syndrome 2
GUncertain significance
KCNH2
(Q376E +3 more)
Single nucleotide variant
(missense variant)
Long QT syndrome 2
GUncertain significance
KCNH2
Single nucleotide variant
(synonymous variant +1 more)
Long QT syndrome
+1 more
GConflicting classifications of pathogenicity
KCNH2
(D466G +4 more)
Single nucleotide variant
(missense variant)
Long QT syndrome
+1 more
GUncertain significance
KCNH2
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+3 more
GConflicting classifications of pathogenicity
KCNH2
Single nucleotide variant
(5 prime UTR variant)
Long QT syndrome 2
GUncertain significance
KCNH2
Single nucleotide variant
(5 prime UTR variant)
Long QT syndrome 2
GUncertain significance
KCNH2
Single nucleotide variant
(intron variant)
Cardiac arrhythmia
+2 more
GConflicting classifications of pathogenicity
KCNH2
(R194G +4 more)
Single nucleotide variant
(missense variant)
Long QT syndrome 2
GUncertain significance
KCNH2
Single nucleotide variant
(intron variant)
Long QT syndrome 2
+1 more
GConflicting classifications of pathogenicity
KCNH2
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+4 more
GConflicting classifications of pathogenicity
KCNH2
(A32V)
Single nucleotide variant
(missense variant)
Long QT syndrome 2
GPathogenic
KCNH2
(M305L +4 more)
Single nucleotide variant
(missense variant)
Long QT syndrome 2
GPathogenic
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