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Items: 8

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CASQ2
(R33*)
Single nucleotide variant
(nonsense)
Catecholaminergic polymorphic ventricular tachycardia 1
+3 more
GPathogenic/Likely pathogenic
CASQ2
(E21fs)
Deletion
(frameshift variant)
Catecholaminergic polymorphic ventricular tachycardia 2
+1 more
GPathogenic
RYR2
(P2328S)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia 1
GPathogenic
LOC126806068, RYR2
(Q4201R)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia 1
GPathogenic
RYR2
(R4497C)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GPathogenic
RYR2
(V4653F)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia 1
GPathogenic/Likely pathogenic
CALM1
(N54I +2 more)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia 4
GLikely pathogenic
CALM1
(N98S +2 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GPathogenic/Likely pathogenic
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