| | LOC126806068, RYR2 (L4188P) | Single nucleotide variant (missense variant) | not provided | |
| | LOC126806068, RYR2 (M4334T) | Single nucleotide variant (missense variant) | not provided | |
| | LOC126806068, RYR2 (R4144S) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | LOC126806068, RYR2 (S4153R) | Single nucleotide variant (missense variant) | Catecholaminergic polymorphic ventricular tachycardia 1 | |
| | | Duplication | Catecholaminergic polymorphic ventricular tachycardia 1 | |
| | | Duplication | Catecholaminergic polymorphic ventricular tachycardia 1 | |
| | | Duplication | Catecholaminergic polymorphic ventricular tachycardia 1 | |
| | | Duplication | Catecholaminergic polymorphic ventricular tachycardia 1 | |
| | | Duplication | Catecholaminergic polymorphic ventricular tachycardia 1 | |
| | | Duplication | Catecholaminergic polymorphic ventricular tachycardia 1 | |
| | | Deletion | Catecholaminergic polymorphic ventricular tachycardia 1 | |
| | | Deletion | Catecholaminergic polymorphic ventricular tachycardia 1 | |
| | | Deletion | Catecholaminergic polymorphic ventricular tachycardia 1 | |
| | | Deletion | Catecholaminergic polymorphic ventricular tachycardia 1 | |
| | | Deletion | Catecholaminergic polymorphic ventricular tachycardia 1 | |
| | | Deletion | Catecholaminergic polymorphic ventricular tachycardia 1 | |
| | | Deletion | Catecholaminergic polymorphic ventricular tachycardia 1 | |
| | | Single nucleotide variant (missense variant) | Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome | |
| | | Single nucleotide variant (missense variant) | Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome +1 more | |
| | LOC126806067, RYR2 (H1373R) | Single nucleotide variant (missense variant) | Cardiovascular phenotype | |
| | LOC126806067, RYR2 (R1358P) | Single nucleotide variant (missense variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype | |
| | LOC126806068, RYR2 (D4374G) | Single nucleotide variant (missense variant) | Cardiovascular phenotype | |
| | LOC126806068, RYR2 (K4272E) | Single nucleotide variant (missense variant) | Catecholaminergic polymorphic ventricular tachycardia | |
| | | Single nucleotide variant (synonymous variant) | Catecholaminergic polymorphic ventricular tachycardia | |
| | LOC126806068, RYR2 (K4385R) | Single nucleotide variant (missense variant) | Catecholaminergic polymorphic ventricular tachycardia | |
| | LOC126806068, RYR2 (N4333S) | Single nucleotide variant (missense variant) | Catecholaminergic polymorphic ventricular tachycardia | |
| | LOC126806067, RYR2 (K1316R) | Single nucleotide variant (missense variant) | Catecholaminergic polymorphic ventricular tachycardia | |
| | LOC126806067, RYR2 (A1325S) | Single nucleotide variant (missense variant) | Catecholaminergic polymorphic ventricular tachycardia | |
| | LOC126806068, RYR2 (V4271G) | Single nucleotide variant (missense variant) | Catecholaminergic polymorphic ventricular tachycardia | |
| | LOC126806067, RYR2 (T1297N) | Single nucleotide variant (missense variant) | Catecholaminergic polymorphic ventricular tachycardia | |
| | LOC126806068, RYR2 (V4319I) | Single nucleotide variant (missense variant) | Catecholaminergic polymorphic ventricular tachycardia | |
| | LOC126806067, RYR2 (D1278G) | Single nucleotide variant (missense variant) | Catecholaminergic polymorphic ventricular tachycardia | |
| | | Single nucleotide variant (synonymous variant) | Catecholaminergic polymorphic ventricular tachycardia | |
| | | Single nucleotide variant (synonymous variant) | Catecholaminergic polymorphic ventricular tachycardia | |
| | LOC126806068, RYR2 (M4279V) | Single nucleotide variant (missense variant) | Catecholaminergic polymorphic ventricular tachycardia | |
| | LOC126806067, RYR2 (V1313I) | Single nucleotide variant (missense variant) | Catecholaminergic polymorphic ventricular tachycardia | |
| | | Single nucleotide variant (intron variant) | Catecholaminergic polymorphic ventricular tachycardia | |
| | | Single nucleotide variant (synonymous variant) | Catecholaminergic polymorphic ventricular tachycardia | |
| | LOC126806068, RYR2 (Q4339R) | Single nucleotide variant (missense variant) | Catecholaminergic polymorphic ventricular tachycardia | |
| | LOC126806068, RYR2 (L4369P) | Single nucleotide variant (missense variant) | Catecholaminergic polymorphic ventricular tachycardia | |
| | LOC126806067, RYR2 (F1290L) | Single nucleotide variant (missense variant) | Catecholaminergic polymorphic ventricular tachycardia | |
| | | Single nucleotide variant (synonymous variant) | Catecholaminergic polymorphic ventricular tachycardia | |
| | | Single nucleotide variant (synonymous variant) | Catecholaminergic polymorphic ventricular tachycardia | |
| | LOC126806068, RYR2 (C4310F) | Single nucleotide variant (missense variant) | Catecholaminergic polymorphic ventricular tachycardia | |
| | | Single nucleotide variant (synonymous variant) | Catecholaminergic polymorphic ventricular tachycardia | |
| | LOC126806067, RYR2 (R1303C) | Single nucleotide variant (missense variant) | Catecholaminergic polymorphic ventricular tachycardia | |
| | | Single nucleotide variant (synonymous variant) | Catecholaminergic polymorphic ventricular tachycardia | |
| | LOC126806068, RYR2 (L4376I) | Single nucleotide variant (missense variant) | Catecholaminergic polymorphic ventricular tachycardia | |
| | LOC126806068, RYR2 (S4221R) | Single nucleotide variant (missense variant) | Catecholaminergic polymorphic ventricular tachycardia | |
| | LOC126806068, RYR2 (E4361G) | Single nucleotide variant (missense variant) | Catecholaminergic polymorphic ventricular tachycardia | |
| | LOC126806068, RYR2 (K4266Q) | Single nucleotide variant (missense variant) | Catecholaminergic polymorphic ventricular tachycardia | |
| | | Single nucleotide variant (synonymous variant) | Catecholaminergic polymorphic ventricular tachycardia | |
| | LOC126806068, RYR2 (S4141R) | Single nucleotide variant (missense variant) | Catecholaminergic polymorphic ventricular tachycardia | |
| | | Deletion (intron variant) | Catecholaminergic polymorphic ventricular tachycardia | |
| | LOC126806068, RYR2 (K4323R) | Single nucleotide variant (missense variant) | Catecholaminergic polymorphic ventricular tachycardia | |
| | LOC126806068, RYR2 (M4274T) | Single nucleotide variant (missense variant) | Catecholaminergic polymorphic ventricular tachycardia | |
| | LOC126806068, RYR2 (P4226L) | Single nucleotide variant (missense variant) | Catecholaminergic polymorphic ventricular tachycardia | |
| | LOC126806067, RYR2 (R1383C) | Single nucleotide variant (missense variant) | Catecholaminergic polymorphic ventricular tachycardia | |
| | | Single nucleotide variant (synonymous variant) | Catecholaminergic polymorphic ventricular tachycardia | |
| | LOC126806068, RYR2 (L4330V) | Single nucleotide variant (missense variant) | Catecholaminergic polymorphic ventricular tachycardia | |
| | LOC126806068, RYR2 (N4212K) | Single nucleotide variant (missense variant) | Catecholaminergic polymorphic ventricular tachycardia | |
| | LOC126806067, RYR2 (N1372S) | Single nucleotide variant (missense variant) | Catecholaminergic polymorphic ventricular tachycardia | |
| | LOC126806068, RYR2 (P4359S) | Single nucleotide variant (missense variant) | Catecholaminergic polymorphic ventricular tachycardia | |
| | LOC126806068, RYR2 (A4328V) | Single nucleotide variant (missense variant) | Catecholaminergic polymorphic ventricular tachycardia | |
| | | Single nucleotide variant (synonymous variant) | Catecholaminergic polymorphic ventricular tachycardia | |
| | LOC126806067, RYR2 (G1329R) | Single nucleotide variant (missense variant) | Catecholaminergic polymorphic ventricular tachycardia | |
| | LOC126806068, RYR2 (V4327L) | Single nucleotide variant (missense variant) | Catecholaminergic polymorphic ventricular tachycardia | |
| | LOC126806068, RYR2 (E4372Q) | Single nucleotide variant (missense variant) | Catecholaminergic polymorphic ventricular tachycardia | |
| | | Single nucleotide variant (synonymous variant) | Catecholaminergic polymorphic ventricular tachycardia | |
| | LOC126806067, RYR2 (S1263P) | Single nucleotide variant (missense variant) | Catecholaminergic polymorphic ventricular tachycardia | |
| | LOC126806068, RYR2 (I4197T) | Single nucleotide variant (missense variant) | Catecholaminergic polymorphic ventricular tachycardia | |
| | LOC126806068, RYR2 (W4288R) | Single nucleotide variant (missense variant) | Catecholaminergic polymorphic ventricular tachycardia | |
| | | Deletion (frameshift variant) | Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome | |
| | | Single nucleotide variant (missense variant) | Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome | |
| | | Single nucleotide variant (synonymous variant) | Catecholaminergic polymorphic ventricular tachycardia 1 | |
| | LOC126806068, RYR2 (G4344E) | Single nucleotide variant (missense variant) | Catecholaminergic polymorphic ventricular tachycardia 1 | |
| | | Single nucleotide variant (synonymous variant) | Catecholaminergic polymorphic ventricular tachycardia 1 +1 more | |
| | LOC126806067, RYR2 (H1267L) | Single nucleotide variant (missense variant) | Catecholaminergic polymorphic ventricular tachycardia 1 | |
| | | Single nucleotide variant (synonymous variant) | Catecholaminergic polymorphic ventricular tachycardia 1 | |
| | | Single nucleotide variant (synonymous variant) | Catecholaminergic polymorphic ventricular tachycardia 1 | |
| | | Single nucleotide variant (intron variant) | Catecholaminergic polymorphic ventricular tachycardia 1 | |
| | LOC126806068, RYR2 (D4374N) | Single nucleotide variant (missense variant) | Catecholaminergic polymorphic ventricular tachycardia 1 | |
| | | Single nucleotide variant (synonymous variant) | Catecholaminergic polymorphic ventricular tachycardia 1 | |
| | LOC126806068, RYR2 (E4194K) | Single nucleotide variant (missense variant) | Catecholaminergic polymorphic ventricular tachycardia 1 | |
| | LOC126806068, RYR2 (P4163A) | Single nucleotide variant (missense variant) | Catecholaminergic polymorphic ventricular tachycardia 1 | |
| | LOC126806068, RYR2 (G4321V) | Single nucleotide variant (missense variant) | Catecholaminergic polymorphic ventricular tachycardia 1 | |
| | | Single nucleotide variant (synonymous variant) | Catecholaminergic polymorphic ventricular tachycardia 1 | |
| | | Single nucleotide variant (synonymous variant) | Catecholaminergic polymorphic ventricular tachycardia 1 | |
| | | Single nucleotide variant (synonymous variant) | Catecholaminergic polymorphic ventricular tachycardia 1 | |
| | LOC126806068, RYR2 (M4292V) | Single nucleotide variant (missense variant) | Catecholaminergic polymorphic ventricular tachycardia 1 | |
| | LOC126806068, RYR2 (D4340N) | Single nucleotide variant (missense variant) | Catecholaminergic polymorphic ventricular tachycardia 1 | |
| | LOC126806068, RYR2 (P4353A) | Single nucleotide variant (missense variant) | Catecholaminergic polymorphic ventricular tachycardia 1 | |
| | | Indel (intron variant) | Catecholaminergic polymorphic ventricular tachycardia 1 | |
| | | Single nucleotide variant (intron variant) | Catecholaminergic polymorphic ventricular tachycardia 1 | |
| | | Single nucleotide variant (synonymous variant) | Catecholaminergic polymorphic ventricular tachycardia 1 | |
| | | Single nucleotide variant (synonymous variant) | Catecholaminergic polymorphic ventricular tachycardia 1 | |
| | LOC126806068, RYR2 (S4317I) | Single nucleotide variant (missense variant) | Catecholaminergic polymorphic ventricular tachycardia 1 | |
| | | Single nucleotide variant (synonymous variant) | Catecholaminergic polymorphic ventricular tachycardia +1 more | GConflicting classifications of pathogenicity |