U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 14

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KCNH2
(P1075L +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GUncertain significance
KCNH2
(R1047C +2 more)
Single nucleotide variant
(missense variant +1 more)
Short QT syndrome type 1
+4 more
GUncertain significance
KCNH2
(T643I +2 more)
Single nucleotide variant
(missense variant +1 more)
Long QT syndrome 2
+4 more
GConflicting classifications of pathogenicity
KCNH2
(R547H +1 more)
Single nucleotide variant
(missense variant)
not provided
+5 more
GConflicting classifications of pathogenicity
KCNH2
(R545C +1 more)
Single nucleotide variant
(missense variant)
Long QT syndrome
+7 more
GConflicting classifications of pathogenicity
KCNH2
(P506A +1 more)
Single nucleotide variant
(missense variant)
Long QT syndrome 2
GUncertain significance
KCNH2
(R451W +4 more)
Single nucleotide variant
(missense variant)
Long QT syndrome
+5 more
GConflicting classifications of pathogenicity
KCNH2
(R752Q +4 more)
Single nucleotide variant
(missense variant)
Long QT syndrome
+2 more
GPathogenic/Likely pathogenic
KCNH2
(V195M +4 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
KCNH2
(P347S +3 more)
Single nucleotide variant
(missense variant)
not provided
+5 more
GConflicting classifications of pathogenicity
KCNH2
(R328C +3 more)
Single nucleotide variant
(missense variant)
not provided
+5 more
GConflicting classifications of pathogenicity
KCNH2
(R148W +3 more)
Single nucleotide variant
(missense variant)
not specified
+6 more
GConflicting classifications of pathogenicity
KCNH2
(P141L +3 more)
Single nucleotide variant
(missense variant)
Long QT syndrome
+6 more
GConflicting classifications of pathogenicity
KCNH2
(V115M +3 more)
Single nucleotide variant
(missense variant)
Long QT syndrome
+4 more
GUncertain significance
Format
Items per page
Sort by
Choose Destination