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Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KCNQ1
(R192fs +1 more)
Deletion
(frameshift variant)
Congenital long QT syndrome
+8 more
GPathogenic
KCNQ1
(R195Q +2 more)
Single nucleotide variant
(missense variant)
Long QT syndrome
+5 more
GConflicting classifications of pathogenicity
KCNQ1
(S225L +2 more)
Single nucleotide variant
(missense variant)
Atrial fibrillation, familial, 3
+9 more
GPathogenic/Likely pathogenic
KCNQ1
(G229D +2 more)
Single nucleotide variant
(missense variant)
Long QT syndrome
+2 more
GConflicting classifications of pathogenicity
KCNQ1
(Q230* +2 more)
Single nucleotide variant
(nonsense)
KCNQ1-related disorder
+1 more
GPathogenic/Likely pathogenic
KCNQ1
(K362R +2 more)
Single nucleotide variant
(missense variant)
Atrial fibrillation, familial, 3
+23 more
GConflicting classifications of pathogenicity
KCNQ1
(R518* +4 more)
Single nucleotide variant
(nonsense)
Cardiac arrhythmia
+8 more
GPathogenic
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