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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126806067, RYR2
(S1295G)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia
+5 more
GConflicting classifications of pathogenicity
LOC126806067, RYR2
Single nucleotide variant
(synonymous variant)
not provided
+6 more
GConflicting classifications of pathogenicity
LOC126806067, RYR2
(G1324A)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia 1
+4 more
GUncertain significance
LOC126806067, RYR2
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+4 more
GBenign/Likely benign
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