U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 20

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KCNQ1
Single nucleotide variant
(5 prime UTR variant)
Cardiovascular phenotype
+7 more
GConflicting classifications of pathogenicity
KCNQ1
Duplication
(inframe_insertion)
KCNQ1-related condition
+5 more
GConflicting classifications of pathogenicity
KCNQ1
(P64S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
KCNQ1
Single nucleotide variant
(intron variant)
not provided
+6 more
GConflicting classifications of pathogenicity
KCNQ1
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+3 more
GBenign/Likely benign
KCNQ1
Single nucleotide variant
(synonymous variant +1 more)
Cardiovascular phenotype
+3 more
GConflicting classifications of pathogenicity
KCNQ1
Single nucleotide variant
(synonymous variant +1 more)
Cardiovascular phenotype
+3 more
GConflicting classifications of pathogenicity
KCNQ1
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
KCNQ1
(K393N +4 more)
Single nucleotide variant
(missense variant)
Long QT syndrome 1
+10 more
GConflicting classifications of pathogenicity
KCNQ1
(R274W +4 more)
Single nucleotide variant
(missense variant)
Cardiac arrhythmia
+4 more
GUncertain significance
KCNQ1
Deletion
(intron variant)
Cardiac arrhythmia
+2 more
GBenign/Likely benign
KCNQ1
(K292T +4 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KCNQ1
(P448R +4 more)
Single nucleotide variant
(missense variant)
Short QT syndrome type 2
+8 more
GBenign/Likely benign
KCNQ1, KCNQ1OT1
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
KCNQ1
(R519H +4 more)
Single nucleotide variant
(missense variant)
Short QT syndrome type 2
+7 more
GConflicting classifications of pathogenicity
KCNQ1
(S546L +4 more)
Single nucleotide variant
(missense variant)
Long QT syndrome 1
+4 more
GPathogenic/Likely pathogenic
KCNQ1
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
KCNQ1, KCNQ1-AS1
Single nucleotide variant
(synonymous variant)
Long QT syndrome
+9 more
GConflicting classifications of pathogenicity
KCNQ1, KCNQ1-AS1
(G516S +5 more)
Single nucleotide variant
(missense variant)
not provided
+8 more
GBenign/Likely benign
KCNQ1, KCNQ1-AS1
(V521I +5 more)
Single nucleotide variant
(missense variant)
not specified
+9 more
GBenign/Likely benign
Format
Items per page
Sort by
Choose Destination