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Links from Gene

Items: 1 to 100 of 618

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RYR2
(L4919V)
Single nucleotide variant
(missense variant)
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome
GUncertain significance
RYR2
(L3724F)
Single nucleotide variant
(missense variant)
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome
+1 more
GUncertain significance
LOC126806067, RYR2
(H1373R)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
LOC126806067, RYR2
(R1358P)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
LOC126806067, RYR2
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
GLikely benign
LOC126806068, RYR2
(D4374G)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
LOC126806068, RYR2
(K4272E)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia
GUncertain significance
LOC126806067, RYR2
Single nucleotide variant
(synonymous variant)
Catecholaminergic polymorphic ventricular tachycardia
GLikely benign
LOC126806068, RYR2
(K4385R)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia
GUncertain significance
LOC126806068, RYR2
(N4333S)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia
GUncertain significance
LOC126806067, RYR2
(K1316R)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia
GUncertain significance
LOC126806067, RYR2
(A1325S)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia
GUncertain significance
LOC126806068, RYR2
(V4271G)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia
GUncertain significance
LOC126806067, RYR2
(T1297N)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia
GUncertain significance
LOC126806068, RYR2
(V4319I)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia
GUncertain significance
LOC126806067, RYR2
(D1278G)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia
GUncertain significance
LOC126806067, RYR2
Single nucleotide variant
(synonymous variant)
Catecholaminergic polymorphic ventricular tachycardia
GLikely benign
LOC126806068, RYR2
Single nucleotide variant
(synonymous variant)
Catecholaminergic polymorphic ventricular tachycardia
GLikely benign
LOC126806068, RYR2
(M4279V)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia
GUncertain significance
LOC126806067, RYR2
(V1313I)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia
GUncertain significance
LOC126806067, RYR2
Single nucleotide variant
(intron variant)
Catecholaminergic polymorphic ventricular tachycardia
GUncertain significance
LOC126806068, RYR2
Single nucleotide variant
(synonymous variant)
Catecholaminergic polymorphic ventricular tachycardia
GLikely benign
LOC126806068, RYR2
(Q4339R)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia
GUncertain significance
LOC126806068, RYR2
(L4369P)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia
GUncertain significance
LOC126806067, RYR2
(F1290L)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia
GUncertain significance
LOC126806067, RYR2
Single nucleotide variant
(synonymous variant)
Catecholaminergic polymorphic ventricular tachycardia
GLikely benign
LOC126806068, RYR2
Single nucleotide variant
(synonymous variant)
Catecholaminergic polymorphic ventricular tachycardia
GLikely benign
LOC126806068, RYR2
(C4310F)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia
GUncertain significance
LOC126806068, RYR2
Single nucleotide variant
(synonymous variant)
Catecholaminergic polymorphic ventricular tachycardia
GLikely benign
LOC126806067, RYR2
(R1303C)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia
GUncertain significance
LOC126806068, RYR2
Single nucleotide variant
(synonymous variant)
Catecholaminergic polymorphic ventricular tachycardia
GUncertain significance
LOC126806068, RYR2
(L4376I)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia
GUncertain significance
LOC126806068, RYR2
(S4221R)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia
GUncertain significance
LOC126806068, RYR2
(E4361G)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia
GUncertain significance
LOC126806068, RYR2
(K4266Q)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia
GUncertain significance
LOC126806068, RYR2
Single nucleotide variant
(synonymous variant)
Catecholaminergic polymorphic ventricular tachycardia
GUncertain significance
LOC126806068, RYR2
(S4141R)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia
GUncertain significance
LOC126806067, RYR2
Deletion
(intron variant)
Catecholaminergic polymorphic ventricular tachycardia
GUncertain significance
LOC126806068, RYR2
(K4323R)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia
GUncertain significance
LOC126806068, RYR2
(M4274T)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia
GUncertain significance
LOC126806068, RYR2
(P4226L)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia
GUncertain significance
LOC126806067, RYR2
(R1383C)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia
GUncertain significance
LOC126806067, RYR2
Single nucleotide variant
(synonymous variant)
Catecholaminergic polymorphic ventricular tachycardia
GLikely benign
LOC126806068, RYR2
(L4330V)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia
GUncertain significance
LOC126806068, RYR2
(N4212K)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia
GUncertain significance
LOC126806067, RYR2
(N1372S)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia
GUncertain significance
LOC126806068, RYR2
(P4359S)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia
GUncertain significance
LOC126806068, RYR2
(A4328V)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia
GUncertain significance
LOC126806067, RYR2
Single nucleotide variant
(synonymous variant)
Catecholaminergic polymorphic ventricular tachycardia
GUncertain significance
LOC126806067, RYR2
(G1329R)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia
GUncertain significance
LOC126806068, RYR2
(V4327L)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia
GUncertain significance
LOC126806068, RYR2
(E4372Q)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia
GUncertain significance
LOC126806068, RYR2
Single nucleotide variant
(synonymous variant)
Catecholaminergic polymorphic ventricular tachycardia
GLikely benign
LOC126806067, RYR2
(S1263P)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia
GUncertain significance
LOC126806068, RYR2
(I4197T)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia
GUncertain significance
LOC126806068, RYR2
(W4288R)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia
GUncertain significance
RYR2
(K3311fs)
Deletion
(frameshift variant)
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome
GLikely pathogenic
RYR2
(L3470V)
Single nucleotide variant
(missense variant)
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome
GUncertain significance
LOC126806068, RYR2
Single nucleotide variant
(synonymous variant)
Catecholaminergic polymorphic ventricular tachycardia 1
GLikely benign
LOC126806068, RYR2
(G4344E)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia 1
GUncertain significance
LOC126806068, RYR2
Single nucleotide variant
(synonymous variant)
Catecholaminergic polymorphic ventricular tachycardia 1
+1 more
GLikely benign
LOC126806067, RYR2
(H1267L)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia 1
GUncertain significance
LOC126806068, RYR2
Single nucleotide variant
(synonymous variant)
Catecholaminergic polymorphic ventricular tachycardia 1
GLikely benign
LOC126806068, RYR2
Single nucleotide variant
(synonymous variant)
Catecholaminergic polymorphic ventricular tachycardia 1
GLikely benign
LOC126806067, RYR2
Single nucleotide variant
(intron variant)
Catecholaminergic polymorphic ventricular tachycardia 1
GLikely benign
LOC126806068, RYR2
(D4374N)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia 1
GUncertain significance
LOC126806068, RYR2
Single nucleotide variant
(synonymous variant)
Catecholaminergic polymorphic ventricular tachycardia 1
GLikely benign
LOC126806068, RYR2
(E4194K)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia 1
GUncertain significance
LOC126806068, RYR2
(P4163A)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia 1
GUncertain significance
LOC126806068, RYR2
(G4321V)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia 1
GUncertain significance
LOC126806067, RYR2
Single nucleotide variant
(synonymous variant)
Catecholaminergic polymorphic ventricular tachycardia 1
GLikely benign
LOC126806068, RYR2
Single nucleotide variant
(synonymous variant)
Catecholaminergic polymorphic ventricular tachycardia 1
GLikely benign
LOC126806067, RYR2
Single nucleotide variant
(synonymous variant)
Catecholaminergic polymorphic ventricular tachycardia 1
GLikely benign
LOC126806068, RYR2
(M4292V)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia 1
GUncertain significance
LOC126806068, RYR2
(D4340N)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia 1
GUncertain significance
LOC126806068, RYR2
(P4353A)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia 1
GUncertain significance
LOC126806068, RYR2
Indel
(intron variant)
Catecholaminergic polymorphic ventricular tachycardia 1
GUncertain significance
LOC126806067, RYR2
Single nucleotide variant
(intron variant)
Catecholaminergic polymorphic ventricular tachycardia 1
GLikely benign
LOC126806068, RYR2
Single nucleotide variant
(synonymous variant)
Catecholaminergic polymorphic ventricular tachycardia 1
GLikely benign
LOC126806067, RYR2
Single nucleotide variant
(synonymous variant)
Catecholaminergic polymorphic ventricular tachycardia 1
GLikely benign
LOC126806068, RYR2
(S4317I)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia 1
GUncertain significance
LOC126806067, RYR2
Single nucleotide variant
(synonymous variant)
Catecholaminergic polymorphic ventricular tachycardia 1
+1 more
GConflicting classifications of pathogenicity
LOC126806067, RYR2
(N1372H)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia 1
GUncertain significance
LOC126806067, RYR2
(T1271I)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia 1
GUncertain significance
LOC126806067, RYR2
(K1331N)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia 1
GUncertain significance
LOC126806068, RYR2
Single nucleotide variant
(synonymous variant)
Catecholaminergic polymorphic ventricular tachycardia 1
GLikely benign
LOC126806068, RYR2
(V4410L)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+1 more
GUncertain significance
LOC126806068, RYR2
(P4398Q)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GUncertain significance
LOC126806068, RYR2
(K4367N)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GUncertain significance
LOC126806068, RYR2
(E4350G)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+3 more
GUncertain significance
LOC126806068, RYR2
(I4308F)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GUncertain significance
LOC126806068, RYR2
Single nucleotide variant
(synonymous variant)
Catecholaminergic polymorphic ventricular tachycardia 1
+3 more
GLikely benign
LOC126806068, RYR2
(N4212K)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GUncertain significance
LOC126806068, RYR2
(N4191fs)
Duplication
(frameshift variant)
Cardiomyopathy
GUncertain significance
LOC126806068, RYR2
(E4161K)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GUncertain significance
LOC126806068, RYR2
(M4139T)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GUncertain significance
LOC126806067, RYR2
(R1358L)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GUncertain significance
LOC126806067, RYR2
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
GLikely benign
LOC126806067, RYR2
(P1323R)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GUncertain significance
LOC126806067, RYR2
(F1314del)
Microsatellite
(inframe_deletion)
Cardiomyopathy
GUncertain significance
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