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Links from MedGen

Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KCNQ1, KCNQ1-AS1
(G635E +5 more)
Single nucleotide variant
(missense variant)
Long QT syndrome
+8 more
GUncertain significance
RYR2
(K1887fs)
Duplication
(frameshift variant)
Polymorphic ventricular tachycardia
+5 more
GUncertain significance
CASQ2
(F189L)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+7 more
GConflicting classifications of pathogenicity
RYR2
(A4556T)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GUncertain significance
RYR2
(P466A)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+5 more
GUncertain significance
RYR2
(V186M)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+4 more
GUncertain significance
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