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Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126806068, RYR2
(R4144C)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 2
+3 more
GUncertain significance
LOC126806068, RYR2
(E4182A)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+2 more
GConflicting classifications of pathogenicity
LOC126806068, RYR2
Single nucleotide variant
(synonymous variant)
not specified
+6 more
GConflicting classifications of pathogenicity
LOC126806068, RYR2
Single nucleotide variant
(synonymous variant)
Catecholaminergic polymorphic ventricular tachycardia 1
+4 more
GLikely benign
LOC126806068, RYR2
(T4281M)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+4 more
GLikely benign
LOC126806068, RYR2
Single nucleotide variant
(synonymous variant)
Catecholaminergic polymorphic ventricular tachycardia
+5 more
GLikely benign
LOC126806068, RYR2
(A4357V)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GUncertain significance
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