U.S. flag

An official website of the United States government

Format
Sort by
Choose Destination

Links from MedGen

Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SCN5A
(N291H)
Single nucleotide variant
(missense variant)
Cardiac arrhythmia
+1 more
GUncertain significance
ANK2
(V687M +15 more)
Single nucleotide variant
(missense variant)
Torsades de pointes
Gnot provided
ANK2
(G454R +11 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GUncertain significance
KCNQ1
(K218E +2 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
KCNH2
(R1047L +1 more)
Single nucleotide variant
(missense variant)
not provided
+8 more
GConflicting classifications of pathogenicity
Format
Sort by
Choose Destination