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Items: 10

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CASQ2
Single nucleotide variant
(synonymous variant)
Catecholaminergic polymorphic ventricular tachycardia 1
+2 more
GPathogenic/Likely pathogenic
RYR2
(R1013Q)
Single nucleotide variant
(missense variant)
not specified
+6 more
GConflicting classifications of pathogenicity
RYR2
(N1551S)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+5 more
GConflicting classifications of pathogenicity
RYR2
(P1565A)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
RYR2
(A2498V)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GConflicting classifications of pathogenicity
RYR2
(V3980D)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia 1
GUncertain significance
RYR2
(H4742fs)
Insertion
(frameshift variant)
Catecholaminergic polymorphic ventricular tachycardia 1
GLikely benign
SCN5A
(R18W)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+10 more
GConflicting classifications of pathogenicity
TRDN
(I438S +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GBenign
DSG2
(V56M)
Single nucleotide variant
(missense variant)
DSG2-related condition
+7 more
GConflicting classifications of pathogenicity
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