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Items: 15

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KCNH2
Single nucleotide variant
(intron variant)
Long QT syndrome
+3 more
GBenign/Likely benign
KCNH2
Single nucleotide variant
(synonymous variant +1 more)
not specified
+4 more
GConflicting classifications of pathogenicity
KCNH2
(R695fs +2 more)
Deletion
(frameshift variant +1 more)
Long QT syndrome
+1 more
GPathogenic
KCNH2
(T643I +2 more)
Single nucleotide variant
(missense variant +1 more)
Cardiac arrhythmia
+4 more
GConflicting classifications of pathogenicity
KCNH2
(E564V +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KCNH2
Duplication
(inframe_insertion)
not provided
GUncertain significance
KCNH2
(R547C +1 more)
Single nucleotide variant
(missense variant)
not provided
+5 more
GUncertain significance
KCNH2
(R523* +1 more)
Single nucleotide variant
(nonsense)
Congenital long QT syndrome
+3 more
GPathogenic
KCNH2
Single nucleotide variant
(synonymous variant +1 more)
not specified
+5 more
GConflicting classifications of pathogenicity
KCNH2
Single nucleotide variant
(synonymous variant +1 more)
not provided
+5 more
GConflicting classifications of pathogenicity
KCNH2
Single nucleotide variant
(synonymous variant +1 more)
Long QT syndrome
+5 more
GConflicting classifications of pathogenicity
KCNH2
Single nucleotide variant
(synonymous variant +1 more)
Long QT syndrome
+5 more
GConflicting classifications of pathogenicity
KCNH2
(R356H +3 more)
Single nucleotide variant
(missense variant)
Long QT syndrome
+3 more
GConflicting classifications of pathogenicity
KCNH2
(R148W +3 more)
Single nucleotide variant
(missense variant)
not specified
+6 more
GConflicting classifications of pathogenicity
KCNH2
Single nucleotide variant
(synonymous variant +1 more)
Cardiac arrhythmia
+5 more
GConflicting classifications of pathogenicity
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