"Illumina Laboratory Services, Illumina"[submitter] AND "RYR2"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 296699	NM_001035.3(RYR2):c.-63G>T	RYR2	Single nucleotide variant (5 prime UTR variant)	Arrhythmogenic right ventricular dysplasia 2 +2 more	GConflicting classifications of pathogenicity
Select item 296700	NM_001035.3(RYR2):c.-27C>A	RYR2	Single nucleotide variant (5 prime UTR variant)	Catecholaminergic polymorphic ventricular tachycardia +1 more	GUncertain significance
Select item 296701	NM_001035.3(RYR2):c.-20C>A	RYR2	Single nucleotide variant (5 prime UTR variant)	Catecholaminergic polymorphic ventricular tachycardia +1 more	GUncertain significance
Select item 874067	NM_001035.3(RYR2):c.-15A>G	RYR2	Single nucleotide variant (5 prime UTR variant)	Arrhythmogenic right ventricular dysplasia 2 +3 more	GUncertain significance
Select item 874068	NM_001035.3(RYR2):c.463+14G>A	RYR2	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 2 +2 more	GConflicting classifications of pathogenicity
Select item 43790	NM_001035.3(RYR2):c.464-8A>C	RYR2	Single nucleotide variant (intron variant)	Cardiovascular phenotype +5 more	GBenign
Select item 43810	NM_001035.3(RYR2):c.576+7G>C	RYR2	Single nucleotide variant (intron variant)	not specified +4 more	GBenign/Likely benign
Select item 296702	NM_001035.3(RYR2):c.577-14G>A	RYR2	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +4 more	GConflicting classifications of pathogenicity
Select item 296703	NM_001035.3(RYR2):c.595G>A (p.Gly199Ser)	RYR2 (G199S)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +1 more	GUncertain significance
Select item 296704	NM_001035.3(RYR2):c.625C>G (p.Gln209Glu)	RYR2 (Q209E)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GUncertain significance
Select item 165072	NM_001035.3(RYR2):c.649A>G (p.Ile217Val)	RYR2 (I217V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 43817	NM_001035.3(RYR2):c.677-11T>A	RYR2	Single nucleotide variant (intron variant)	Cardiovascular phenotype +6 more	GBenign
Select item 43818	NM_001035.3(RYR2):c.684C>T (p.Leu228=)	RYR2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +6 more	GConflicting classifications of pathogenicity
Select item 519353	NM_001035.3(RYR2):c.815G>T (p.Arg272Leu)	RYR2 (R272L)	Single nucleotide variant (missense variant)	Cardiomyopathy +6 more	GUncertain significance
Select item 296705	NM_001035.3(RYR2):c.828A>G (p.Arg276=)	RYR2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +7 more	GConflicting classifications of pathogenicity
Select item 296706	NM_001035.3(RYR2):c.837G>A (p.Thr279=)	RYR2	Single nucleotide variant (synonymous variant)	Cardiomyopathy +3 more	GConflicting classifications of pathogenicity
Select item 532404	NM_001035.3(RYR2):c.848+8G>C	RYR2	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 296707	NM_001035.3(RYR2):c.849-10T>C	RYR2	Single nucleotide variant (intron variant)	Cardiomyopathy +2 more	GConflicting classifications of pathogenicity
Select item 43834	NM_001035.3(RYR2):c.849-8T>C	RYR2	Single nucleotide variant (intron variant)	Cardiomyopathy +5 more	GBenign
Select item 93480	NM_001035.3(RYR2):c.982G>A (p.Ala328Thr)	RYR2 (A328T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GConflicting classifications of pathogenicity
Select item 296708	NM_001035.3(RYR2):c.1006-12C>T	RYR2	Single nucleotide variant (intron variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 138936	NM_001035.3(RYR2):c.1053A>G (p.Thr351=)	RYR2	Single nucleotide variant (synonymous variant)	not specified +5 more	GBenign/Likely benign
Select item 138937	NM_001035.3(RYR2):c.1218G>A (p.Ser406=)	RYR2	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia +6 more	GBenign/Likely benign
Select item 846341	NM_001035.3(RYR2):c.1241G>A (p.Arg414His)	RYR2 (R414H)	Single nucleotide variant (missense variant)	Cardiomyopathy +5 more	GConflicting classifications of pathogenicity
Select item 43728	NM_001035.3(RYR2):c.1359C>T (p.Ser453=)	RYR2	Single nucleotide variant (synonymous variant)	Cardiomyopathy +7 more	GBenign
Select item 296709	NM_001035.3(RYR2):c.1404G>A (p.Glu468=)	RYR2	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +3 more	GConflicting classifications of pathogenicity
Select item 296710	NM_001035.3(RYR2):c.1444C>T (p.Leu482=)	RYR2	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +1 more	GConflicting classifications of pathogenicity
Select item 43750	NM_001035.3(RYR2):c.1519G>A (p.Val507Ile)	RYR2 (V507I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GBenign/Likely benign
Select item 43751	NM_001035.3(RYR2):c.1548T>C (p.Asp516=)	RYR2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 36736	NM_001035.3(RYR2):c.1611G>A (p.Leu537=)	RYR2	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +6 more	GBenign
Select item 296711	NM_001035.3(RYR2):c.1612+10A>G	RYR2	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +2 more	GConflicting classifications of pathogenicity
Select item 179814	NM_001035.3(RYR2):c.1612+13A>G	RYR2	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 43752	NM_001035.3(RYR2):c.1612+14T>C	RYR2	Single nucleotide variant (intron variant)	Cardiovascular phenotype +5 more	GBenign
Select item 296712	NM_001035.3(RYR2):c.1712T>A (p.Ile571Asn)	RYR2 (I571N)	Single nucleotide variant (missense variant)	Cardiomyopathy +3 more	GUncertain significance
Select item 43753	NM_001035.3(RYR2):c.1776A>T (p.Gly592=)	RYR2	Single nucleotide variant (synonymous variant)	Cardiomyopathy +6 more	GBenign
Select item 874172	NM_001035.3(RYR2):c.1789A>G (p.Ile597Val)	RYR2 (I597V)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 2 +1 more	GConflicting classifications of pathogenicity
Select item 36737	NM_001035.3(RYR2):c.1863C>T (p.His621=)	RYR2	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +6 more	GBenign/Likely benign
Select item 463585	NM_001035.3(RYR2):c.1940G>A (p.Arg647His)	RYR2 (R647H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GUncertain significance
Select item 875103	NM_001035.3(RYR2):c.1945G>T (p.Val649Leu)	RYR2 (V649L)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +1 more	GUncertain significance
Select item 43755	NM_001035.3(RYR2):c.2046A>G (p.Thr682=)	RYR2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +6 more	GBenign/Likely benign
Select item 296713	NM_001035.3(RYR2):c.2101G>A (p.Glu701Lys)	RYR2 (E701K)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +3 more	GUncertain significance
Select item 875104	NM_001035.3(RYR2):c.2117A>G (p.Tyr706Cys)	RYR2 (Y706C)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 2 +2 more	GUncertain significance
Select item 876050	NM_001035.3(RYR2):c.2175T>C (p.Tyr725=)	RYR2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 296714	NM_001035.3(RYR2):c.2204-10C>A	RYR2	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia +1 more	GUncertain significance
Select item 36738	NM_001035.3(RYR2):c.2204-7C>G	RYR2	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +6 more	GBenign/Likely benign
Select item 696779	NM_001035.3(RYR2):c.2223A>G (p.Val741=)	RYR2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 2 +5 more	GConflicting classifications of pathogenicity
Select item 201162	NM_001035.3(RYR2):c.2253T>G (p.Thr751=)	RYR2	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +5 more	GConflicting classifications of pathogenicity
Select item 36739	NM_001035.3(RYR2):c.2267G>A (p.Ser756Asn)	RYR2 (S756N)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +5 more	GConflicting classifications of pathogenicity
Select item 93477	NM_001035.3(RYR2):c.2301G>T (p.Ser767=)	RYR2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +6 more	GBenign/Likely benign
Select item 43758	NM_001035.3(RYR2):c.2397-6C>T	RYR2	Single nucleotide variant (intron variant)	not provided +4 more	GBenign
Select item 874227	NM_001035.3(RYR2):c.2542C>T (p.Arg848Cys)	RYR2 (R848C)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 2 +2 more	GUncertain significance
Select item 201165	NM_001035.3(RYR2):c.2574G>A (p.Thr858=)	RYR2	Single nucleotide variant (synonymous variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 296715	NM_001035.3(RYR2):c.2643A>C (p.Ile881=)	RYR2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +6 more	GBenign/Likely benign
Select item 43760	NM_001035.3(RYR2):c.2717C>T (p.Pro906Leu)	RYR2 (P906L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GUncertain significance
Select item 43762	NM_001035.3(RYR2):c.2760G>A (p.Glu920=)	RYR2	Single nucleotide variant (synonymous variant)	Cardiomyopathy +6 more	GConflicting classifications of pathogenicity
Select item 296716	NM_001035.3(RYR2):c.2772G>A (p.Leu924=)	RYR2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 381914	NM_001035.3(RYR2):c.2808G>A (p.Ser936=)	RYR2	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia +4 more	GConflicting classifications of pathogenicity
Select item 463590	NM_001035.3(RYR2):c.2910C>T (p.Tyr970=)	RYR2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 875150	NM_001035.3(RYR2):c.2930A>T (p.Lys977Met)	RYR2 (K977M)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 178118	NM_001035.3(RYR2):c.2935G>T (p.Ala979Ser)	RYR2 (A979S)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 876112	NM_001035.3(RYR2):c.2964C>T (p.Leu988=)	RYR2	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +1 more	GUncertain significance
Select item 43763	NM_001035.3(RYR2):c.2973A>G (p.Ser991=)	RYR2	Single nucleotide variant (synonymous variant)	not specified +7 more	GBenign
Select item 43764	NM_001035.3(RYR2):c.3030T>C (p.Asp1010=)	RYR2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +7 more	GBenign/Likely benign
Select item 161381	NM_001035.3(RYR2):c.3038G>A (p.Arg1013Gln)	RYR2 (R1013Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GConflicting classifications of pathogenicity
Select item 178116	NM_001035.3(RYR2):c.3054T>C (p.Tyr1018=)	RYR2	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +5 more	GConflicting classifications of pathogenicity
Select item 874273	NM_001035.3(RYR2):c.3067-14G>C	RYR2	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 2 +3 more	GConflicting classifications of pathogenicity
Select item 296717	NM_001035.3(RYR2):c.3105C>T (p.Tyr1035=)	RYR2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 43766	NM_001035.3(RYR2):c.3153C>T (p.Arg1051=)	RYR2	Single nucleotide variant (synonymous variant)	Cardiomyopathy +4 more	GConflicting classifications of pathogenicity
Select item 201236	NM_001035.3(RYR2):c.3164G>A (p.Arg1055His)	RYR2 (R1055H)	Single nucleotide variant (missense variant)	Cardiomyopathy +5 more	GUncertain significance
Select item 296718	NM_001035.3(RYR2):c.3181G>A (p.Gly1061Ser)	RYR2 (G1061S)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia +2 more	GUncertain significance
Select item 875208	NM_001035.3(RYR2):c.3358C>T (p.Pro1120Ser)	RYR2 (P1120S)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +1 more	GUncertain significance
Select item 43769	NM_001035.3(RYR2):c.3380A>G (p.Glu1127Gly)	RYR2 (E1127G)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GConflicting classifications of pathogenicity
Select item 296719	NM_001035.3(RYR2):c.3400G>T (p.Ala1134Ser)	RYR2 (A1134S)	Single nucleotide variant (missense variant)	Cardiomyopathy +4 more	GUncertain significance
Select item 43770	NM_001035.3(RYR2):c.3407C>T (p.Ala1136Val)	RYR2 (A1136V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GBenign/Likely benign
Select item 296720	NM_001035.3(RYR2):c.3496G>A (p.Val1166Ile)	RYR2 (V1166I)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +1 more	GUncertain significance
Select item 201166	NM_001035.3(RYR2):c.3517A>G (p.Met1173Val)	RYR2 (M1173V)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 43772	NM_001035.3(RYR2):c.3537T>C (p.Gly1179=)	RYR2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 2 +5 more	GBenign/Likely benign
Select item 876166	NM_001035.3(RYR2):c.3598+13T>C	RYR2	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 2 +1 more	GConflicting classifications of pathogenicity
Select item 378487	NM_001035.3(RYR2):c.3729A>C (p.Thr1243=)	RYR2	Single nucleotide variant (synonymous variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 876308	NM_001035.3(RYR2):c.3766C>A (p.Pro1256Thr)	LOC126806067, RYR2 (P1256T)	Single nucleotide variant (missense variant)	Cardiomyopathy +2 more	GConflicting classifications of pathogenicity
Select item 201241	NM_001035.3(RYR2):c.3823G>A (p.Gly1275Ser)	LOC126806067, RYR2 (G1275S)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 296721	NM_001035.3(RYR2):c.3898A>C (p.Met1300Leu)	LOC126806067, RYR2 (M1300L)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia +2 more	GUncertain significance
Select item 296722	NM_001035.3(RYR2):c.4044G>A (p.Lys1348=)	LOC126806067, RYR2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +6 more	GConflicting classifications of pathogenicity
Select item 43778	NM_001035.3(RYR2):c.4068C>T (p.Pro1356=)	LOC126806067, RYR2	Single nucleotide variant (synonymous variant)	Cardiomyopathy +6 more	GConflicting classifications of pathogenicity
Select item 36743	NM_001035.3(RYR2):c.4069G>C (p.Asp1357His)	LOC126806067, RYR2 (D1357H)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +5 more	GConflicting classifications of pathogenicity
Select item 201381	NM_001035.3(RYR2):c.4094C>T (p.Ala1365Val)	LOC126806067, RYR2 (A1365V)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +5 more	GConflicting classifications of pathogenicity
Select item 43782	NM_001035.3(RYR2):c.4198A>G (p.Ser1400Gly)	RYR2 (S1400G)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GBenign/Likely benign
Select item 296723	NM_001035.3(RYR2):c.4250A>G (p.Tyr1417Cys)	RYR2 (Y1417C)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +3 more	GUncertain significance
Select item 296724	NM_001035.3(RYR2):c.4273A>G (p.Thr1425Ala)	RYR2 (T1425A)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +6 more	GConflicting classifications of pathogenicity
Select item 875259	NM_001035.3(RYR2):c.4382G>C (p.Arg1461Thr)	RYR2 (R1461T)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +1 more	GUncertain significance
Select item 191544	NM_001035.3(RYR2):c.4445G>A (p.Arg1482His)	RYR2 (R1482H)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +5 more	GConflicting classifications of pathogenicity
Select item 43786	NM_001035.3(RYR2):c.4597-11del	RYR2	Deletion	Cardiovascular phenotype +6 more	GBenign/Likely benign
Select item 43787	NM_001035.3(RYR2):c.4605G>A (p.Pro1535=)	RYR2	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +6 more	GBenign/Likely benign
Select item 201172	NM_001035.3(RYR2):c.4652A>G (p.Asn1551Ser)	RYR2 (N1551S)	Single nucleotide variant (missense variant)	Cardiomyopathy +5 more	GConflicting classifications of pathogenicity
Select item 43791	NM_001035.3(RYR2):c.4684-11C>T	RYR2	Single nucleotide variant (intron variant)	not provided +4 more	GBenign
Select item 43792	NM_001035.3(RYR2):c.4684-5G>C	RYR2	Single nucleotide variant (intron variant)	Cardiovascular phenotype +5 more	GBenign
Select item 296725	NM_001035.3(RYR2):c.4695T>C (p.Pro1565=)	RYR2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +6 more	GBenign/Likely benign
Select item 876354	NM_001035.3(RYR2):c.4703C>T (p.Ala1568Val)	RYR2 (A1568V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GUncertain significance
Select item 43794	NM_001035.3(RYR2):c.4734C>T (p.Pro1578=)	RYR2	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia +6 more	GConflicting classifications of pathogenicity
Select item 43795	NM_001035.3(RYR2):c.4740G>A (p.Pro1580=)	RYR2	Single nucleotide variant (synonymous variant)	not provided +6 more	GBenign/Likely benign

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