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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KCNE1
(D85N)
Single nucleotide variant
(missense variant)
Long QT syndrome 5
+7 more
GConflicting classifications of pathogenicity; other; risk factor
KCNE1
(D76N)
Single nucleotide variant
(missense variant)
Long QT syndrome 5
+8 more
GConflicting classifications of pathogenicity
KCNE1
(S74L)
Single nucleotide variant
(missense variant)
not specified
+5 more
GConflicting classifications of pathogenicity
KCNE1
Indel
(missense variant)
not provided
+3 more
GLikely pathogenic
KCNE1
(T7I)
Single nucleotide variant
(missense variant)
Jervell and Lange-Nielsen syndrome 2
GPathogenic
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