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Items: 1 to 100 of 110

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RYR2
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign
RYR2
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
+5 more
GBenign/Likely benign
RYR2
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+5 more
GConflicting classifications of pathogenicity
RYR2
Single nucleotide variant
(intron variant)
Catecholaminergic polymorphic ventricular tachycardia 1
+4 more
GConflicting classifications of pathogenicity
RYR2
(R272H)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia
+3 more
GUncertain significance
RYR2
Single nucleotide variant
(intron variant)
not specified
+5 more
GConflicting classifications of pathogenicity
RYR2
(G341A)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia 1
+4 more
GConflicting classifications of pathogenicity
RYR2
Single nucleotide variant
(synonymous variant)
Catecholaminergic polymorphic ventricular tachycardia
+5 more
GBenign/Likely benign
RYR2
Single nucleotide variant
(synonymous variant)
Catecholaminergic polymorphic ventricular tachycardia
+1 more
GLikely benign
RYR2
Single nucleotide variant
(synonymous variant)
Catecholaminergic polymorphic ventricular tachycardia 1
+6 more
GBenign/Likely benign
RYR2
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
RYR2
Single nucleotide variant
(intron variant)
not specified
+1 more
GLikely benign
RYR2
(D458N)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
RYR2
(P466Q)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
RYR2
(V507I)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+6 more
GBenign/Likely benign
RYR2
Single nucleotide variant
(synonymous variant)
Catecholaminergic polymorphic ventricular tachycardia
+6 more
GBenign
RYR2
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
+6 more
GBenign/Likely benign
RYR2
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+6 more
GBenign/Likely benign
RYR2
(E711K)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
RYR2
Single nucleotide variant
(intron variant)
not specified
+1 more
GBenign
RYR2
Single nucleotide variant
(intron variant)
Cardiomyopathy
+6 more
GBenign/Likely benign
RYR2
(F788L)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia 1
+2 more
GUncertain significance
RYR2
Single nucleotide variant
(intron variant)
Catecholaminergic polymorphic ventricular tachycardia 1
+4 more
GBenign/Likely benign
RYR2
Single nucleotide variant
(intron variant)
Arrhythmogenic right ventricular dysplasia 2
+4 more
GBenign
RYR2
(H877P)
Single nucleotide variant
(missense variant)
not specified
+5 more
GBenign/Likely benign
RYR2
(Y904C)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
RYR2
Single nucleotide variant
(synonymous variant)
Catecholaminergic polymorphic ventricular tachycardia 1
+6 more
GConflicting classifications of pathogenicity
RYR2
(M981V)
Single nucleotide variant
(missense variant)
not specified
+2 more
GUncertain significance
RYR2
Single nucleotide variant
(synonymous variant)
Arrhythmogenic right ventricular dysplasia 2
+7 more
GBenign/Likely benign
RYR2
(R1013Q)
Single nucleotide variant
(missense variant)
not specified
+6 more
GConflicting classifications of pathogenicity
RYR2
Deletion
(intron variant)
Catecholaminergic polymorphic ventricular tachycardia
+4 more
GLikely benign
RYR2
(E1052K)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia 1
+2 more
GUncertain significance
RYR2
(T1107M)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+4 more
GConflicting classifications of pathogenicity
RYR2
(E1127G)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia 1
+7 more
GConflicting classifications of pathogenicity
RYR2
(A1136V)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+6 more
GBenign/Likely benign
RYR2
(E1189K)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
LOC126806067, RYR2
Single nucleotide variant
(intron variant)
not specified
+1 more
GLikely benign
LOC126806067, RYR2
(V1355L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RYR2
(S1400G)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+7 more
GBenign/Likely benign
RYR2
(D1454G)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia
+5 more
GUncertain significance
RYR2
(C1489R)
Single nucleotide variant
(missense variant)
not specified
+5 more
GConflicting classifications of pathogenicity
RYR2
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign/Likely benign
RYR2
Deletion
Cardiovascular phenotype
+6 more
GBenign/Likely benign
RYR2
(Q1546*)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
RYR2
Single nucleotide variant
(intron variant)
Cardiovascular phenotype
+5 more
GBenign
RYR2
(P1578R)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia
+7 more
GUncertain significance
RYR2
Single nucleotide variant
(synonymous variant)
Catecholaminergic polymorphic ventricular tachycardia
+5 more
GBenign/Likely benign
RYR2
(S1765C)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular cardiomyopathy
+5 more
GConflicting classifications of pathogenicity
RYR2
Single nucleotide variant
(synonymous variant)
Catecholaminergic polymorphic ventricular tachycardia 1
+5 more
GBenign
RYR2
(G1885E)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+6 more
GBenign
RYR2
(G1886S)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia
+6 more
GBenign/Likely benign
RYR2
(K2053R)
Single nucleotide variant
(missense variant)
not specified
+3 more
GUncertain significance
RYR2
Single nucleotide variant
(intron variant)
Cardiovascular phenotype
+3 more
GBenign
RYR2
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
RYR2
(E2169G)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+2 more
GUncertain significance
RYR2
(E2173D)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
RYR2
Single nucleotide variant
(intron variant)
Arrhythmogenic right ventricular dysplasia 2
+5 more
GBenign
RYR2
Single nucleotide variant
(synonymous variant)
Catecholaminergic polymorphic ventricular tachycardia 1
+5 more
GBenign/Likely benign
RYR2
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
+5 more
GBenign/Likely benign
RYR2
Duplication
not specified
+1 more
GBenign/Likely benign
RYR2
Single nucleotide variant
(intron variant)
Catecholaminergic polymorphic ventricular tachycardia 1
+2 more
GBenign
RYR2
Single nucleotide variant
(synonymous variant)
not specified
+6 more
GBenign/Likely benign
RYR2
Single nucleotide variant
(synonymous variant)
Catecholaminergic polymorphic ventricular tachycardia
+5 more
GBenign/Likely benign
RYR2
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+5 more
GBenign/Likely benign
RYR2
Single nucleotide variant
(intron variant)
Catecholaminergic polymorphic ventricular tachycardia 1
+1 more
GLikely benign
RYR2
(I2721T)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+5 more
GConflicting classifications of pathogenicity
RYR2
Duplication
Catecholaminergic polymorphic ventricular tachycardia
+5 more
GBenign/Likely benign
RYR2
Single nucleotide variant
(synonymous variant)
Catecholaminergic polymorphic ventricular tachycardia 1
+6 more
GBenign
RYR2
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GLikely benign
RYR2
(Q2958R)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia
+6 more
GBenign/Likely benign
RYR2
Single nucleotide variant
(intron variant)
not provided
+3 more
GConflicting classifications of pathogenicity
RYR2
Single nucleotide variant
(synonymous variant)
Catecholaminergic polymorphic ventricular tachycardia
+6 more
GConflicting classifications of pathogenicity
RYR2
Single nucleotide variant
(intron variant)
not provided
+4 more
GBenign
RYR2
Single nucleotide variant
(synonymous variant)
not specified
+6 more
GBenign/Likely benign
RYR2
Single nucleotide variant
(synonymous variant)
Catecholaminergic polymorphic ventricular tachycardia 1
+6 more
GConflicting classifications of pathogenicity
RYR2
Single nucleotide variant
(intron variant)
Catecholaminergic polymorphic ventricular tachycardia 1
+2 more
GLikely benign
RYR2
Single nucleotide variant
(intron variant)
Catecholaminergic polymorphic ventricular tachycardia 1
+2 more
GBenign/Likely benign
RYR2
Single nucleotide variant
(intron variant)
not provided
+5 more
GConflicting classifications of pathogenicity
RYR2
Single nucleotide variant
(intron variant)
not specified
+5 more
GConflicting classifications of pathogenicity
RYR2
Single nucleotide variant
(synonymous variant)
not specified
+6 more
GBenign/Likely benign
RYR2
(H3560Q)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 2
+7 more
GUncertain significance
RYR2
Single nucleotide variant
(intron variant)
Cardiovascular phenotype
+2 more
GConflicting classifications of pathogenicity
RYR2
Single nucleotide variant
(synonymous variant)
not specified
+6 more
GConflicting classifications of pathogenicity
RYR2
Deletion
(intron variant)
not provided
+4 more
GConflicting classifications of pathogenicity
RYR2
(R3810*)
Single nucleotide variant
(nonsense)
Catecholaminergic polymorphic ventricular tachycardia
+4 more
GUncertain significance
RYR2
Single nucleotide variant
(intron variant)
not provided
+3 more
GBenign/Likely benign
RYR2
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
+5 more
GBenign/Likely benign
RYR2
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign
RYR2
Single nucleotide variant
(synonymous variant)
Catecholaminergic polymorphic ventricular tachycardia 1
+6 more
GConflicting classifications of pathogenicity
RYR2
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
+6 more
GBenign/Likely benign
RYR2
Deletion
(intron variant)
not specified
+5 more
GBenign/Likely benign
RYR2
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+6 more
GBenign/Likely benign
RYR2
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
+5 more
GLikely benign
RYR2
Single nucleotide variant
(synonymous variant)
Catecholaminergic polymorphic ventricular tachycardia 1
+6 more
GConflicting classifications of pathogenicity
LOC126806068, RYR2
(R4307C)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 2
+6 more
GConflicting classifications of pathogenicity
LOC126806068, RYR2
Single nucleotide variant
(intron variant)
not provided
+3 more
GBenign/Likely benign
RYR2
(E4431K)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 2
+8 more
GConflicting classifications of pathogenicity
RYR2
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
RYR2
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+4 more
GBenign/Likely benign
RYR2
(A4556P)
Single nucleotide variant
(missense variant)
not provided
+6 more
GUncertain significance
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