"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "RYR2"[gene] - ClinVar

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Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 201289	NM_001035.3(RYR2):c.37T>C (p.Phe13Leu)	RYR2 (F13L)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1006238	NM_001035.3(RYR2):c.39C>G (p.Phe13Leu)	RYR2 (F13L)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +1 more	GConflicting classifications of pathogenicity
Select item 201368	NM_001035.3(RYR2):c.184C>T (p.Leu62Phe)	RYR2 (L62F)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 463649	NM_001035.3(RYR2):c.892C>T (p.Arg298Cys)	RYR2 (R298C)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 201205	NM_001035.3(RYR2):c.893G>A (p.Arg298His)	RYR2 (R298H)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 451310	NM_001035.3(RYR2):c.950T>C (p.Met317Thr)	RYR2 (M317T)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +6 more	GConflicting classifications of pathogenicity
Select item 93480	NM_001035.3(RYR2):c.982G>A (p.Ala328Thr)	RYR2 (A328T)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 923317	NM_001035.3(RYR2):c.1092A>C (p.Gln364His)	RYR2 (Q364H)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia +4 more	GUncertain significance
Select item 3380781	NM_001035.3(RYR2):c.1211G>C (p.Ser404Thr)	RYR2 (S404T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 547976	NM_001035.3(RYR2):c.1600T>C (p.Tyr534His)	RYR2 (Y534H)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 2 +1 more	GUncertain significance
Select item 3380782	NM_001035.3(RYR2):c.1640A>T (p.Asn547Ile)	RYR2 (N547I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2682729	NM_001035.3(RYR2):c.1666G>A (p.Asp556Asn)	RYR2 (D556N)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +1 more	GUncertain significance
Select item 922641	NM_001035.3(RYR2):c.2042A>G (p.His681Arg)	RYR2 (H681R)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +4 more	GUncertain significance
Select item 3380783	NM_001035.3(RYR2):c.2323G>T (p.Val775Phe)	RYR2 (V775F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 180488	NM_001035.3(RYR2):c.2389G>A (p.Gly797Arg)	RYR2 (G797R)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 965446	NM_001035.3(RYR2):c.2863G>A (p.Glu955Lys)	RYR2 (E955K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 875150	NM_001035.3(RYR2):c.2930A>T (p.Lys977Met)	RYR2 (K977M)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 2 +2 more	GUncertain significance
Select item 393146	NM_001035.3(RYR2):c.3361G>C (p.Gly1121Arg)	RYR2 (G1121R)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 178120	NM_001035.3(RYR2):c.4465T>C (p.Cys1489Arg)	RYR2 (C1489R)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 43785	NM_001035.3(RYR2):c.4596+4C>T	RYR2	Single nucleotide variant (intron variant)	Cardiovascular phenotype +6 more	GUncertain significance
Select item 2561456	NM_001035.3(RYR2):c.4625C>T (p.Ala1542Val)	RYR2 (A1542V)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +3 more	GUncertain significance
Select item 1163780	NM_001035.3(RYR2):c.4626G>A (p.Ala1542=)	RYR2	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 519547	NM_001035.3(RYR2):c.5570C>T (p.Pro1857Leu)	RYR2 (P1857L)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia +4 more	GConflicting classifications of pathogenicity
Select item 375865	NM_001035.3(RYR2):c.5822G>A (p.Arg1941His)	RYR2 (R1941H)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia +6 more	GUncertain significance
Select item 921409	NM_001035.3(RYR2):c.6170C>T (p.Thr2057Ile)	RYR2 (T2057I)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +3 more	GUncertain significance
Select item 1016584	NM_001035.3(RYR2):c.6706G>A (p.Gly2236Ser)	RYR2 (G2236S)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +1 more	GUncertain significance
Select item 1693800	NM_001035.3(RYR2):c.6827G>T (p.Ser2276Ile)	RYR2 (S2276I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2568266	NM_001035.3(RYR2):c.7378T>C (p.Phe2460Leu)	RYR2 (F2460L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 451818	NM_001035.3(RYR2):c.8060G>A (p.Ser2687Asn)	RYR2 (S2687N)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 2682730	NM_001035.3(RYR2):c.8545C>T (p.His2849Tyr)	RYR2 (H2849Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1059453	NM_001035.3(RYR2):c.8879T>C (p.Ile2960Thr)	RYR2 (I2960T)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 629423	NM_001035.3(RYR2):c.9190G>A (p.Ala3064Thr)	RYR2 (A3064T)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +5 more	GUncertain significance
Select item 1015528	NM_001035.3(RYR2):c.9691A>G (p.Met3231Val)	RYR2 (M3231V)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +4 more	GUncertain significance
Select item 201299	NM_001035.3(RYR2):c.10043T>G (p.Met3348Arg)	RYR2 (M3348R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1320386	NM_001035.3(RYR2):c.10189C>T (p.Arg3397Cys)	RYR2 (R3397C)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 925524	NM_001035.3(RYR2):c.10190G>T (p.Arg3397Leu)	RYR2 (R3397L)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia +4 more	GConflicting classifications of pathogenicity
Select item 201348	NM_001035.3(RYR2):c.10897G>A (p.Glu3633Lys)	RYR2 (E3633K)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 3380784	NM_001035.3(RYR2):c.11383G>A (p.Gly3795Ser)	RYR2 (G3795S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 496655	NM_001035.3(RYR2):c.12023A>G (p.Asn4008Ser)	RYR2 (N4008S)	Single nucleotide variant (missense variant)	Cardiomyopathy +3 more	GUncertain significance
Select item 296758	NM_001035.3(RYR2):c.12083C>T (p.Ser4028Leu)	RYR2 (S4028L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 532339	NM_001035.3(RYR2):c.12091A>G (p.Thr4031Ala)	RYR2 (T4031A)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 2 +6 more	GConflicting classifications of pathogenicity
Select item 420230	NM_001035.3(RYR2):c.13476+8_13476+11dup	RYR2	Duplication (intron variant)	Cardiomyopathy +3 more	GConflicting classifications of pathogenicity
Select item 12957	NM_001035.3(RYR2):c.13489C>T (p.Arg4497Cys)	RYR2 (R4497C)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +3 more	GPathogenic

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Items: 43