RYR2[gene] AND (clinsig_pathogenic[prop] OR clinsig_likely_pathogenic[ - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 16781181.	NM_001035.3(RYR2):c.28G>T (p.Glu10Ter) GRCh37: Chr1:237205849 GRCh38: Chr1:237042549	RYR2	E10*	not provided	Likely pathogenic (Oct 12, 2021)	criteria provided, single submitter
Select item 8709752.	NM_001035.3(RYR2):c.120_135dup (p.Leu46fs) GRCh37: Chr1:237433863-237433864 GRCh38: Chr1:237270563-237270564	RYR2	L46fs	not provided	Likely pathogenic (Jul 1, 2019)	criteria provided, single submitter
Select item 18053963.	NM_001035.3(RYR2):c.139T>C (p.Cys47Arg) GRCh37: Chr1:237433887 GRCh38: Chr1:237270587	RYR2	C47R	Catecholaminergic polymorphic ventricular tachycardia 1	Likely pathogenic (Mar 31, 2022)	criteria provided, single submitter
Select item 298794.	NM_001035.3(RYR2):c.169-198_273+820del GRCh37: Chr1:237493979-237495101 GRCh38: Chr1:237330679-237331801	RYR2		Catecholaminergic polymorphic ventricular tachycardia 1	Pathogenic (Nov 24, 2009)	no assertion criteria provided
Select item 2282905.	NM_001035.2(RYR2):c.(?_169)_(273_?)del GRCh37: Chr1:237494178-237494282 GRCh38: Chr1:237330878-237330982	RYR2		Catecholaminergic polymorphic ventricular tachycardia	Likely pathogenic (Oct 12, 2015)	criteria provided, single submitter
Select item 4041906.	NM_001035.3(RYR2):c.230C>T (p.Ala77Val) GRCh37: Chr1:237494239 GRCh38: Chr1:237330939	RYR2	A77V	Catecholaminergic polymorphic ventricular tachycardia 1, Cardiovascular phenotype, not provided	Pathogenic/Likely pathogenic (Feb 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 2011907.	NM_001035.3(RYR2):c.239A>G (p.Glu80Gly) GRCh37: Chr1:237494248 GRCh38: Chr1:237330948	RYR2	E80G	Catecholaminergic polymorphic ventricular tachycardia 1	Pathogenic (Mar 31, 2022)	criteria provided, single submitter
Select item 6848068.	NM_001035.3(RYR2):c.243G>A (p.Met81Ile) GRCh37: Chr1:237494252 GRCh38: Chr1:237330952	RYR2	M81I	Conduction disorder of the heart	Likely pathogenic	criteria provided, single submitter
Select item 5721629.	NM_001035.3(RYR2):c.344A>G (p.Tyr115Cys) GRCh37: Chr1:237532868 GRCh38: Chr1:237369568	RYR2	Y115C	Catecholaminergic polymorphic ventricular tachycardia 1	Likely pathogenic (Sep 1, 2021)	criteria provided, multiple submitters, no conflicts
Select item 220300610.	NM_001035.3(RYR2):c.490C>T (p.Pro164Ser) GRCh37: Chr1:237540649 GRCh38: Chr1:237377349	RYR2	P164S	Catecholaminergic polymorphic ventricular tachycardia 1	Pathogenic (Jul 30, 2022)	criteria provided, single submitter
Select item 20119311.	NM_001035.3(RYR2):c.499A>G (p.Lys167Glu) GRCh37: Chr1:237540658 GRCh38: Chr1:237377358	RYR2	K167E	not provided	Likely pathogenic (Aug 30, 2017)	criteria provided, single submitter
Select item 42718412.	NM_001035.3(RYR2):c.502C>G (p.Gln168Glu) GRCh37: Chr1:237540661 GRCh38: Chr1:237377361	RYR2	Q168E	not provided	Likely pathogenic (Apr 24, 2015)	criteria provided, single submitter
Select item 174508613.	NM_001035.3(RYR2):c.505C>G (p.Arg169Gly) GRCh37: Chr1:237540664 GRCh38: Chr1:237377364	RYR2	R169G	Cardiovascular phenotype	Likely pathogenic (Oct 13, 2017)	criteria provided, single submitter
Select item 37258214.	NM_001035.3(RYR2):c.506G>T (p.Arg169Leu) GRCh37: Chr1:237540665 GRCh38: Chr1:237377365	RYR2	R169L	Cardiovascular phenotype, not provided	Pathogenic/Likely pathogenic (Mar 4, 2019)	criteria provided, multiple submitters, no conflicts
Select item 4380115.	NM_001035.3(RYR2):c.506G>A (p.Arg169Gln) GRCh37: Chr1:237540665 GRCh38: Chr1:237377365	RYR2	R169Q	Cardiovascular phenotype, not provided, Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia	Pathogenic/Likely pathogenic (Apr 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 20136716.	NM_001035.3(RYR2):c.512_514del (p.Glu171del) GRCh37: Chr1:237540669-237540671 GRCh38: Chr1:237377369-237377371	RYR2	E171del	not provided	Likely pathogenic (Feb 7, 2017)	criteria provided, single submitter
Select item 107292817.	NM_001035.3(RYR2):c.514G>A (p.Gly172Arg) GRCh37: Chr1:237540673 GRCh38: Chr1:237377373	RYR2	G172R	Catecholaminergic polymorphic ventricular tachycardia 1	Pathogenic (Aug 26, 2021)	criteria provided, single submitter
Select item 46360518.	NM_001035.3(RYR2):c.515G>A (p.Gly172Glu) GRCh37: Chr1:237540674 GRCh38: Chr1:237377374	RYR2	G172E	Catecholaminergic polymorphic ventricular tachycardia	Likely pathogenic (May 10, 2019)	criteria provided, single submitter
Select item 20119519.	NM_001035.3(RYR2):c.527G>T (p.Arg176Leu) GRCh37: Chr1:237540686 GRCh38: Chr1:237377386	RYR2	R176L	Cardiovascular phenotype, not provided	Likely pathogenic (Sep 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 20119420.	NM_001035.3(RYR2):c.527G>A (p.Arg176Gln) GRCh37: Chr1:237540686 GRCh38: Chr1:237377386	RYR2	R176Q	Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 1, Arrhythmogenic right ventricular dysplasia 2, not provided	Pathogenic (Oct 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 106713821.	NM_001035.3(RYR2):c.537T>A (p.Asp179Glu) GRCh37: Chr1:237540696 GRCh38: Chr1:237377396	RYR2	D179E	Catecholaminergic polymorphic ventricular tachycardia 1	Likely pathogenic (Aug 26, 2021)	criteria provided, single submitter
Select item 46360822.	NM_001035.3(RYR2):c.567A>T (p.Glu189Asp) GRCh37: Chr1:237540726 GRCh38: Chr1:237377426	RYR2	E189D	Catecholaminergic polymorphic ventricular tachycardia	Likely pathogenic (Aug 31, 2021)	criteria provided, single submitter
Select item 20136923.	NM_001035.3(RYR2):c.568A>G (p.Arg190Gly) GRCh37: Chr1:237540727 GRCh38: Chr1:237377427	RYR2	R190G	not provided	Pathogenic (Jul 22, 2011)	criteria provided, single submitter
Select item 94770224.	NM_001035.3(RYR2):c.677G>A (p.Gly226Glu) GRCh37: Chr1:237551387 GRCh38: Chr1:237388087	RYR2	G226E	Catecholaminergic polymorphic ventricular tachycardia 1	Likely pathogenic (Aug 28, 2021)	criteria provided, single submitter
Select item 20119825.	NM_001035.3(RYR2):c.704G>A (p.Arg235Lys) GRCh37: Chr1:237551414 GRCh38: Chr1:237388114	RYR2	R235K	not provided	Likely pathogenic (Jul 5, 2013)	criteria provided, single submitter
Select item 20120126.	NM_001035.3(RYR2):c.790G>C (p.Gly264Arg) GRCh37: Chr1:237580365 GRCh38: Chr1:237417065	RYR2	G264R	not provided	Likely pathogenic (May 28, 2013)	no assertion criteria provided
Select item 65479127.	NM_001035.3(RYR2):c.854G>T (p.Ser285Ile) GRCh37: Chr1:237586397 GRCh38: Chr1:237423097	RYR2	S285I	Catecholaminergic polymorphic ventricular tachycardia 1	Likely pathogenic (Aug 24, 2021)	criteria provided, single submitter
Select item 134289028.	NM_001035.3(RYR2):c.1031_1035del (p.Lys344fs) GRCh37: Chr1:237604640-237604644 GRCh38: Chr1:237441340-237441344	RYR2	K344fs	Catecholaminergic polymorphic ventricular tachycardia 1	Likely pathogenic (Feb 3, 2022)	criteria provided, single submitter
Select item 20120729.	NM_001035.3(RYR2):c.1066T>G (p.Tyr356Asp) GRCh37: Chr1:237604679 GRCh38: Chr1:237441379	RYR2	Y356D	not provided	Likely pathogenic (Aug 20, 2014)	criteria provided, single submitter
Select item 51953330.	NM_001035.3(RYR2):c.1069G>A (p.Gly357Ser) GRCh37: Chr1:237604682 GRCh38: Chr1:237441382	RYR2	G357S	Catecholaminergic polymorphic ventricular tachycardia 1, Cardiovascular phenotype, not provided	Pathogenic (Aug 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 203731031.	NM_001035.3(RYR2):c.1070G>A (p.Gly357Asp) GRCh37: Chr1:237604683 GRCh38: Chr1:237441383	RYR2	G357D	Catecholaminergic polymorphic ventricular tachycardia 1	Likely pathogenic (Jan 19, 2022)	criteria provided, single submitter
Select item 152490432.	NM_001035.3(RYR2):c.1172C>A (p.Ala391Asp) GRCh37: Chr1:237608702 GRCh38: Chr1:237445402	RYR2	A391D	Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 1	Likely pathogenic (Apr 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 46354933.	NM_001035.3(RYR2):c.1198G>A (p.Asp400Asn) GRCh37: Chr1:237608728 GRCh38: Chr1:237445428	RYR2	D400N	Catecholaminergic polymorphic ventricular tachycardia 1	Likely pathogenic (Jul 14, 2021)	criteria provided, single submitter
Select item 207522034.	NM_001035.3(RYR2):c.1199A>C (p.Asp400Ala) GRCh37: Chr1:237608729 GRCh38: Chr1:237445429	RYR2	D400A	Catecholaminergic polymorphic ventricular tachycardia 1	Pathogenic (Mar 18, 2022)	criteria provided, single submitter
Select item 180549735.	NM_001035.3(RYR2):c.1244C>T (p.Thr415Ile) GRCh37: Chr1:237608774 GRCh38: Chr1:237445474	RYR2	T415I	Catecholaminergic polymorphic ventricular tachycardia 1	Likely pathogenic (May 6, 2021)	criteria provided, single submitter
Select item 97920536.	NM_001035.3(RYR2):c.1244C>A (p.Thr415Lys) GRCh37: Chr1:237608774 GRCh38: Chr1:237445474	RYR2	T415K	Catecholaminergic polymorphic ventricular tachycardia 1	Likely pathogenic (Sep 13, 2020)	criteria provided, single submitter
Select item 20121537.	NM_001035.3(RYR2):c.1259G>A (p.Arg420Gln) GRCh37: Chr1:237608789 GRCh38: Chr1:237445489	RYR2	R420Q	not provided, Catecholaminergic polymorphic ventricular tachycardia 1, Cardiovascular phenotype	Pathogenic (Feb 22, 2023)	criteria provided, multiple submitters, no conflicts
Select item 1295938.	NM_001035.3(RYR2):c.1298T>C (p.Leu433Pro) GRCh37: Chr1:237617696 GRCh38: Chr1:237454396	RYR2	L433P	Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia	Pathogenic (Dec 26, 2017)	criteria provided, multiple submitters, no conflicts
Select item 133021539.	NM_001035.3(RYR2):c.1646C>T (p.Ala549Val) GRCh37: Chr1:237632425 GRCh38: Chr1:237469125	RYR2	A549V	Arrhythmogenic right ventricular dysplasia 2, Catecholaminergic polymorphic ventricular tachycardia 1	Likely pathogenic	criteria provided, single submitter
Select item 18048640.	NM_001035.3(RYR2):c.1847C>T (p.Ser616Leu) GRCh37: Chr1:237656273 GRCh38: Chr1:237492973	RYR2	S616L	not provided, Catecholaminergic polymorphic ventricular tachycardia 1	Likely pathogenic (Aug 27, 2021)	criteria provided, multiple submitters, no conflicts
Select item 20839641.	NM_001035.3(RYR2):c.2236C>T (p.Gln746Ter) GRCh37: Chr1:237664043 GRCh38: Chr1:237500743	RYR2	Q746*	Childhood-Onset Schizophrenia	Likely pathogenic (Jan 1, 2014)	criteria provided, single submitter
Select item 20839742.	NM_001035.3(RYR2):c.2238A>C (p.Gln746His) GRCh37: Chr1:237664045 GRCh38: Chr1:237500745	RYR2	Q746H	Childhood-Onset Schizophrenia	Likely pathogenic (Jan 1, 2014)	criteria provided, single submitter
Select item 20125443.	NM_001035.3(RYR2):c.5170G>A (p.Glu1724Lys) GRCh37: Chr1:237777598 GRCh38: Chr1:237614298	RYR2	E1724K	Catecholaminergic polymorphic ventricular tachycardia 1, Cardiovascular phenotype, not provided	Pathogenic/Likely pathogenic (Sep 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 98314744.	NM_001035.3(RYR2):c.6202C>T (p.Arg2068Ter) GRCh37: Chr1:237791142 GRCh38: Chr1:237627842	RYR2	R2068*	Arrhythmogenic right ventricular dysplasia 2	Pathogenic (Jan 1, 2019)	criteria provided, single submitter
Select item 53236645.	NM_001035.3(RYR2):c.6412G>A (p.Glu2138Lys) GRCh37: Chr1:237791352 GRCh38: Chr1:237628052	RYR2	E2138K	Catecholaminergic polymorphic ventricular tachycardia 1	Likely pathogenic (Jul 13, 2021)	criteria provided, single submitter
Select item 105150146.	NM_001035.3(RYR2):c.6504C>A (p.His2168Gln) GRCh37: Chr1:237794790 GRCh38: Chr1:237631490	RYR2	H2168Q	Catecholaminergic polymorphic ventricular tachycardia 1	Pathogenic (Oct 13, 2022)	criteria provided, single submitter
Select item 20126547.	NM_001035.3(RYR2):c.6598C>T (p.Leu2200Phe) GRCh37: Chr1:237796920 GRCh38: Chr1:237633620	RYR2	L2200F	not provided	Likely pathogenic (Jun 6, 2012)	criteria provided, single submitter
Select item 215192148.	NM_001035.3(RYR2):c.6602G>A (p.Cys2201Tyr) GRCh37: Chr1:237796924 GRCh38: Chr1:237633624	RYR2	C2201Y	Catecholaminergic polymorphic ventricular tachycardia 1	Pathogenic (Oct 4, 2022)	criteria provided, single submitter
Select item 201890349.	NM_001035.3(RYR2):c.6632A>C (p.Gln2211Pro) GRCh37: Chr1:237796954 GRCh38: Chr1:237633654	RYR2	Q2211P	Catecholaminergic polymorphic ventricular tachycardia 1	Pathogenic (Oct 7, 2022)	criteria provided, single submitter
Select item 57153250.	NM_001035.3(RYR2):c.6646G>C (p.Asp2216His) GRCh37: Chr1:237796968 GRCh38: Chr1:237633668	RYR2	D2216H	Catecholaminergic polymorphic ventricular tachycardia 1	Pathogenic (Sep 1, 2022)	criteria provided, single submitter
Select item 149903051.	NM_001035.3(RYR2):c.6647A>G (p.Asp2216Gly) GRCh37: Chr1:237796969 GRCh38: Chr1:237633669	RYR2	D2216G	Catecholaminergic polymorphic ventricular tachycardia 1	Likely pathogenic (Dec 15, 2021)	criteria provided, single submitter
Select item 95794252.	NM_001035.3(RYR2):c.6649C>T (p.His2217Tyr) GRCh37: Chr1:237796971 GRCh38: Chr1:237633671	RYR2	H2217Y	Catecholaminergic polymorphic ventricular tachycardia 1, Cardiovascular phenotype	Likely pathogenic (Sep 1, 2021)	criteria provided, multiple submitters, no conflicts
Select item 20126653.	NM_001035.3(RYR2):c.6683G>T (p.Gly2228Val) GRCh37: Chr1:237797005 GRCh38: Chr1:237633705	RYR2	G2228V	not provided	Likely pathogenic (Aug 17, 2012)	criteria provided, single submitter
Select item 95420254.	NM_001035.3(RYR2):c.6686T>C (p.Leu2229Pro) GRCh37: Chr1:237797008 GRCh38: Chr1:237633708	RYR2	L2229P	Catecholaminergic polymorphic ventricular tachycardia 1	Likely pathogenic (Jun 13, 2022)	criteria provided, single submitter
Select item 1295455.	NM_001035.3(RYR2):c.6737C>T (p.Ser2246Leu) GRCh37: Chr1:237798237 GRCh38: Chr1:237634937	RYR2	S2246L	not provided, Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia 1	Pathogenic (Sep 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 152786856.	NM_001035.3(RYR2):c.6749A>T (p.Asn2250Ile) GRCh37: Chr1:237798249 GRCh38: Chr1:237634949	RYR2	N2250I	Catecholaminergic polymorphic ventricular tachycardia 1	Likely pathogenic (May 18, 2021)	criteria provided, single submitter
Select item 20126757.	NM_001035.3(RYR2):c.6883G>A (p.Gly2295Arg) GRCh37: Chr1:237801747 GRCh38: Chr1:237638447	RYR2	G2295R	not provided	Likely pathogenic (Mar 10, 2020)	criteria provided, single submitter
Select item 40421858.	NM_001035.3(RYR2):c.6886G>A (p.Glu2296Lys) GRCh37: Chr1:237801750 GRCh38: Chr1:237638450	RYR2	E2296K	Catecholaminergic polymorphic ventricular tachycardia 1	Likely pathogenic (Jul 5, 2022)	criteria provided, single submitter
Select item 138458659.	NM_001035.3(RYR2):c.6900C>G (p.Asp2300Glu) GRCh37: Chr1:237801764 GRCh38: Chr1:237638464	RYR2	D2300E	Catecholaminergic polymorphic ventricular tachycardia 1	Pathogenic (Sep 17, 2021)	criteria provided, single submitter
Select item 210138360.	NM_001035.3(RYR2):c.6916G>T (p.Val2306Phe) GRCh37: Chr1:237801780 GRCh38: Chr1:237638480	RYR2	V2306F	Catecholaminergic polymorphic ventricular tachycardia 1	Likely pathogenic (Feb 22, 2022)	criteria provided, single submitter
Select item 20138761.	NM_001035.3(RYR2):c.6916G>A (p.Val2306Ile) GRCh37: Chr1:237801780 GRCh38: Chr1:237638480	RYR2	V2306I	not provided, Catecholaminergic polymorphic ventricular tachycardia 1	Pathogenic/Likely pathogenic (Jul 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 20126862.	NM_001035.3(RYR2):c.6916G>C (p.Val2306Leu) GRCh37: Chr1:237801780 GRCh38: Chr1:237638480	RYR2	V2306L	not provided	Pathogenic (Mar 18, 2013)	criteria provided, single submitter
Select item 106913063.	NM_001035.3(RYR2):c.6933G>C (p.Glu2311Asp) GRCh37: Chr1:237802319 GRCh38: Chr1:237639019	RYR2	E2311D	Catecholaminergic polymorphic ventricular tachycardia 1	Pathogenic (Aug 24, 2021)	criteria provided, single submitter
Select item 45083664.	NM_001035.3(RYR2):c.6940_6942delinsAAA (p.Glu2314Lys) GRCh37: Chr1:237802326-237802328 GRCh38: Chr1:237639026-237639028	RYR2	E2314K	not provided	Likely pathogenic (Jul 20, 2017)	criteria provided, single submitter
Select item 20127065.	NM_001035.3(RYR2):c.6940G>A (p.Glu2314Lys) GRCh37: Chr1:237802326 GRCh38: Chr1:237639026	RYR2	E2314K	not provided	Likely pathogenic (Nov 12, 2021)	criteria provided, single submitter
Select item 20127266.	NM_001035.3(RYR2):c.6950C>A (p.Ala2317Glu) GRCh37: Chr1:237802336 GRCh38: Chr1:237639036	RYR2	A2317E	not provided	Likely pathogenic (Mar 4, 2016)	criteria provided, single submitter
Select item 84037467.	NM_001035.3(RYR2):c.6982C>G (p.Pro2328Ala) GRCh37: Chr1:237802368 GRCh38: Chr1:237639068	RYR2	P2328A	Catecholaminergic polymorphic ventricular tachycardia 1	Pathogenic (Aug 12, 2021)	criteria provided, single submitter
Select item 1296068.	NM_001035.3(RYR2):c.6982C>T (p.Pro2328Ser) GRCh37: Chr1:237802368 GRCh38: Chr1:237639068	RYR2	P2328S	Catecholaminergic polymorphic ventricular tachycardia 1	Pathogenic (Jun 29, 2004)	no assertion criteria provided
Select item 46362469.	NM_001035.3(RYR2):c.7009G>C (p.Gly2337Arg) GRCh37: Chr1:237802395 GRCh38: Chr1:237639095	RYR2	G2337R	Catecholaminergic polymorphic ventricular tachycardia 1	Likely pathogenic (Aug 13, 2021)	criteria provided, single submitter
Select item 190475870.	NM_001035.3(RYR2):c.7010G>A (p.Gly2337Glu) GRCh37: Chr1:237802396 GRCh38: Chr1:237639096	RYR2	G2337E	Catecholaminergic polymorphic ventricular tachycardia 1	Likely pathogenic (Aug 9, 2022)	criteria provided, single submitter
Select item 51935671.	NM_001035.3(RYR2):c.7024G>A (p.Gly2342Arg) GRCh37: Chr1:237802410 GRCh38: Chr1:237639110	RYR2	G2342R	Cardiovascular phenotype	Likely pathogenic (Feb 9, 2017)	criteria provided, single submitter
Select item 1295872.	NM_001035.3(RYR2):c.7157A>T (p.Asn2386Ile) GRCh37: Chr1:237804238 GRCh38: Chr1:237640938	RYR2	N2386I	Catecholaminergic polymorphic ventricular tachycardia 1	Pathogenic (Feb 1, 2001)	no assertion criteria provided
Select item 20127673.	NM_001035.3(RYR2):c.7159G>A (p.Ala2387Thr) GRCh37: Chr1:237804240 GRCh38: Chr1:237640940	RYR2	A2387T	Catecholaminergic polymorphic ventricular tachycardia, Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 1, not provided	Pathogenic/Likely pathogenic (Jan 25, 2023)	criteria provided, multiple submitters, no conflicts
Select item 20127774.	NM_001035.3(RYR2):c.7160C>T (p.Ala2387Val) GRCh37: Chr1:237804241 GRCh38: Chr1:237640941	RYR2	A2387V	Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 1, not provided	Pathogenic/Likely pathogenic (Sep 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 180584575.	NM_001035.3(RYR2):c.7175A>G (p.Tyr2392Cys) GRCh37: Chr1:237804256 GRCh38: Chr1:237640956	RYR2	Y2392C	Catecholaminergic polymorphic ventricular tachycardia 1	Pathogenic (May 6, 2021)	criteria provided, single submitter
Select item 20127876.	NM_001035.3(RYR2):c.7189G>T (p.Asp2397Tyr) GRCh37: Chr1:237804270 GRCh38: Chr1:237640970	RYR2	D2397Y	not provided	Pathogenic (Apr 30, 2012)	criteria provided, single submitter
Select item 20128077.	NM_001035.3(RYR2):c.7202G>T (p.Arg2401Leu) GRCh37: Chr1:237804283 GRCh38: Chr1:237640983	RYR2	R2401L	not provided, Catecholaminergic polymorphic ventricular tachycardia 1	Pathogenic/Likely pathogenic (Mar 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 20127978.	NM_001035.3(RYR2):c.7202G>A (p.Arg2401His) GRCh37: Chr1:237804283 GRCh38: Chr1:237640983	RYR2	R2401H	not provided, Catecholaminergic polymorphic ventricular tachycardia 1, Cardiovascular phenotype	Pathogenic/Likely pathogenic (Apr 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 145161779.	NM_001035.3(RYR2):c.7213G>A (p.Glu2405Lys) GRCh37: Chr1:237804294 GRCh38: Chr1:237640994	RYR2	E2405K	Catecholaminergic polymorphic ventricular tachycardia 1	Pathogenic (Aug 10, 2022)	criteria provided, single submitter
Select item 210563080.	NM_001035.3(RYR2):c.7256T>C (p.Ile2419Thr) GRCh37: Chr1:237806661 GRCh38: Chr1:237643361	RYR2	I2419T	Catecholaminergic polymorphic ventricular tachycardia 1	Likely pathogenic (Mar 2, 2022)	criteria provided, single submitter
Select item 64992381.	NM_001035.3(RYR2):c.7256T>G (p.Ile2419Ser) GRCh37: Chr1:237806661 GRCh38: Chr1:237643361	RYR2	I2419S	Catecholaminergic polymorphic ventricular tachycardia 1	Likely pathogenic (Aug 28, 2021)	criteria provided, single submitter
Select item 20128182.	NM_001035.3(RYR2):c.7385C>T (p.Pro2462Leu) GRCh37: Chr1:237811786 GRCh38: Chr1:237648486	RYR2	P2462L	not provided	Likely pathogenic (Jul 31, 2012)	criteria provided, single submitter
Select item 1295583.	NM_001035.3(RYR2):c.7422G>C (p.Arg2474Ser) GRCh37: Chr1:237811823 GRCh38: Chr1:237648523	RYR2	R2474S	Catecholaminergic polymorphic ventricular tachycardia 1	Pathogenic (Jan 16, 2001)	no assertion criteria provided
Select item 86177084.	NM_001035.3(RYR2):c.7424T>C (p.Val2475Ala) GRCh37: Chr1:237811825 GRCh38: Chr1:237648525	RYR2	V2475A	Catecholaminergic polymorphic ventricular tachycardia 1	Likely pathogenic (Oct 13, 2022)	criteria provided, single submitter
Select item 91553185.	NM_001035.3(RYR2):c.7459_7470del (p.Leu2487_Val2490del) GRCh37: Chr1:237811859-237811870 GRCh38: Chr1:237648559-237648570	RYR2		Cardiomyopathy	Likely pathogenic (Nov 2, 2017)	criteria provided, single submitter
Select item 138374986.	NM_001035.3(RYR2):c.7580T>G (p.Leu2527Trp) GRCh37: Chr1:237813244 GRCh38: Chr1:237649944	RYR2	L2527W	Catecholaminergic polymorphic ventricular tachycardia 1	Pathogenic (Aug 14, 2021)	criteria provided, single submitter
Select item 98263487.	NM_001035.3(RYR2):c.8659dup (p.Glu2887fs) GRCh37: Chr1:237837463-237837464 GRCh38: Chr1:237674163-237674164	RYR2	E2887fs	Arrhythmogenic right ventricular dysplasia 2	Likely pathogenic (Jan 1, 2019)	criteria provided, single submitter
Select item 18049988.	NM_001035.3(RYR2):c.9352G>A (p.Gly3118Arg) GRCh37: Chr1:237863752 GRCh38: Chr1:237700452	RYR2	G3118R	Catecholaminergic polymorphic ventricular tachycardia 1	Pathogenic (Oct 17, 2022)	criteria provided, single submitter
Select item 25416189.	NM_001035.3(RYR2):c.9688C>A (p.Gln3230Lys) GRCh37: Chr1:237870356 GRCh38: Chr1:237707056	RYR2	Q3230K	Catecholaminergic polymorphic ventricular tachycardia 1	Likely pathogenic (Jul 25, 2016)	criteria provided, single submitter
Select item 97836690.	NM_001035.3(RYR2):c.9848T>A (p.Ile3283Asn) GRCh37: Chr1:237870516 GRCh38: Chr1:237707216	RYR2	I3283N	Conduction disorder of the heart	Likely pathogenic (Jun 10, 2019)	criteria provided, single submitter
Select item 93178191.	NM_001035.3(RYR2):c.10209dup (p.Ile3404fs) GRCh37: Chr1:237872843-237872844 GRCh38: Chr1:237709543-237709544	RYR2	I3404fs	Catecholaminergic polymorphic ventricular tachycardia 1	Likely pathogenic (Mar 24, 2020)	criteria provided, single submitter
Select item 171022792.	NM_001035.3(RYR2):c.10630_10652dup (p.Val3551_Leu3552insGlnArgArgArgTer) GRCh37: Chr1:237886501-237886502 GRCh38: Chr1:237723201-237723202	RYR2		Catecholaminergic polymorphic ventricular tachycardia 1	Pathogenic (Mar 1, 2022)	no assertion criteria provided
Select item 40420893.	NM_001035.3(RYR2):c.11200C>T (p.Arg3734Cys) GRCh37: Chr1:237919642 GRCh38: Chr1:237756342	RYR2	R3734C	not provided, Catecholaminergic polymorphic ventricular tachycardia 1	Likely pathogenic (Jul 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 93380494.	NM_001035.3(RYR2):c.11380_11388del (p.Ala3794_Leu3796del) GRCh37: Chr1:237923125-237923133 GRCh38: Chr1:237759825-237759833	RYR2		Catecholaminergic polymorphic ventricular tachycardia 1	Likely pathogenic (Aug 28, 2021)	criteria provided, single submitter
Select item 134656095.	NM_001035.3(RYR2):c.11444A>G (p.Glu3815Gly) GRCh37: Chr1:237924296 GRCh38: Chr1:237760996	RYR2	E3815G	Catecholaminergic polymorphic ventricular tachycardia 1	Likely pathogenic (Nov 17, 2021)	criteria provided, single submitter
Select item 103588696.	NM_001035.3(RYR2):c.11579C>T (p.Thr3860Ile) GRCh37: Chr1:237935333 GRCh38: Chr1:237772033	RYR2	T3860I	Catecholaminergic polymorphic ventricular tachycardia	Likely pathogenic (Sep 2, 2021)	criteria provided, single submitter
Select item 220300897.	NM_001035.3(RYR2):c.11583G>T (p.Gln3861His) GRCh37: Chr1:237935337 GRCh38: Chr1:237772037	RYR2	Q3861H	Catecholaminergic polymorphic ventricular tachycardia 1	Pathogenic (May 2, 2022)	criteria provided, single submitter
Select item 121311198.	NM_001035.3(RYR2):c.11583G>C (p.Gln3861His) GRCh37: Chr1:237935337 GRCh38: Chr1:237772037	RYR2	Q3861H	not provided	Likely pathogenic (Feb 22, 2019)	criteria provided, single submitter
Select item 65667099.	NM_001035.3(RYR2):c.11590A>G (p.Asn3864Asp) GRCh37: Chr1:237935344 GRCh38: Chr1:237772044	RYR2	N3864D	Catecholaminergic polymorphic ventricular tachycardia 1	Likely pathogenic (Mar 29, 2022)	criteria provided, single submitter
Select item 1328938100.	NM_001035.3(RYR2):c.11621C>T (p.Thr3874Ile) GRCh37: Chr1:237935375 GRCh38: Chr1:237772075	RYR2	T3874I	Catecholaminergic polymorphic ventricular tachycardia 1	Likely pathogenic (Jul 1, 2021)	criteria provided, single submitter

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