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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

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Disease Browser
Parent Node: Diseases (C)
Parent Node: Polymorphic catecholergic ventricular tachycardia (C536334)
..Starting node ..VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY (OMIM:604772)
Child Nodes:
Sister Nodes:
..VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY (OMIM:604772)
..VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 2 (OMIM:611938)
..VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 3 (OMIM:614021)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

11572

Name:

VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY

Definition:

Alternative IDs:

ParentIDs:

MESH:C536334

TreeNumbers:

C14.280.067.845.940/C536334/604772 |C23.550.073.845.940/C536334/604772

Synonyms:

CPVT1 |VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC |VTSIP

Slim Mappings:

Cardiovascular disease|Pathology (process)

Reference:

MedGen: 604772
MeSH: 604772
OMIM: 604772;

Genes: RYR2;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0005110	Atrial fibrillation	HP:0040283
3	HP:0025478	Atrial standstill	HP:0040283
4	HP:0001250	Seizure
5	HP:0001699	Sudden death
6	HP:0001279	Syncope
7	HP:0004756	Ventricular tachycardia

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_001148.4(ANK2):c.10708G>A (p.Glu3570Lys)	287	ANK2	Likely pathogenic;Pathogenic	180843436	RCV000143869; RCV000058340;	N	MedGen:C1141890, Orphanet:ORPHA768,SNOMED CT:442917000; MedGen:CN033270,OMIM:604772	4	114282005	114282005	NM_001148.4:c.10708G>A	NP_001139.3:p.Glu3570Lys	NC_000004.11:g.114282005G>A	-	C1141890 Congenital long QT syndrome; CN033270 604772 Ventricular tachycardia, catecholaminergic polymorphic, 1
NM_001148.4(ANK2):c.11611G>A (p.Gly3871Arg)	287	ANK2	Uncertain significance	786205729	RCV000208166; RCV000170719;	N	MedGen:CN033270,OMIM:604772; MedGen:CN169374	4	114294246	114294246	NM_001148.4:c.11611G>A	NP_001139.3:p.Gly3871Arg	NC_000004.11:g.114294246G>A	-	CN169374 not specified; CN033270 604772 Ventricular tachycardia, catecholaminergic polymorphic, 1
NM_006888.4(CALM1):c.161A>T (p.Asn54Ile)	801	CALM1	Likely pathogenic;Pathogenic	267607276	RCV000157133; RCV000032976;	N	MedGen:C3554047,OMIM:614916; MedGen:CN033270,OMIM:604772	14	90867729	90867729	NM_006888.4:c.161A>T	NP_008819.1:p.Asn54Ile	NC_000014.8:g.90867729A>T	OMIM Allelic Variant:114180.0001	CN033270 604772 Ventricular tachycardia, catecholaminergic polymorphic, 1; C3554047 614916 Ventricular tachycardia, catecholaminergic polymorphic, 4
NM_006888.4(CALM1):c.293A>G (p.Asn98Ser)	801	CALM1	Likely pathogenic;Pathogenic	267607277	RCV000157134; RCV000032977;	N	MedGen:C3554047,OMIM:614916; MedGen:CN033270,OMIM:604772	14	90870730	90870730	NM_006888.4:c.293A>G	NP_008819.1:p.Asn98Ser	NC_000014.8:g.90870730A>G	OMIM Allelic Variant:114180.0002	CN033270 604772 Ventricular tachycardia, catecholaminergic polymorphic, 1; C3554047 614916 Ventricular tachycardia, catecholaminergic polymorphic, 4
NM_001232.3(CASQ2):c.546delT (p.Phe182Leufs)	845	CASQ2	Likely pathogenic	763955301	RCV000208054;	N	MedGen:CN033270,OMIM:604772	1	116275582	116275582	NM_001232.3:c.546delT	NP_001223.2:p.Phe182Leufs	NC_000001.10:g.116275582delA	-	CN033270 604772 Ventricular tachycardia, catecholaminergic polymorphic, 1
NM_001081563.2(DMPK):c.612-6G>C	1760	DMPK	Uncertain significance	766818029	RCV000208175;	N	MedGen:CN033270,OMIM:604772	19	46281484	46281484	NM_001081563.2:c.612-6G>C		NC_000019.9:g.46281484C>G	-	CN033270 604772 Ventricular tachycardia, catecholaminergic polymorphic, 1
NM_001943.3(DSG2):c.166G>A (p.Val56Met)	1829	DSG2	Likely benign;Pathogenic;Uncertain significance;risk factor	121913013	RCV000157179; RCV000018311; RCV000157180; RCV000018312; RCV000148471; RCV000037270;	N	MedGen:C0349788,ORPHA:247,SNOMED CT:253528005,SNOMED CT:281170005; MedGen:C0949658, Orphanet:ORPHA155, Orphanet:ORPHA99739,SNOMED CT:83978005; MedGen:C1857777,OMIM:610193; MedGen:C2752072,OMIM:612877; MedGen:CN033270,OMIM:604772; MedGen:CN169374	18	29099850	29099850	NM_001943.3:c.166G>A	NP_001934.2:p.Val56Met	NC_000018.9:g.29099850G>A	OMIM Allelic Variant:125671.0009	C0349788 Arrhythmogenic right ventricular cardiomyopathy; C1857777 610193 Arrhythmogenic right ventricular cardiomyopathy, type 10; C2752072 612877 Dilated cardiomyopathy 1BB; CN169374 not specified; C0949658 Primary familial hypertrophic cardiomyopat
NM_004415.3(DSP):c.2597G>A (p.Arg866His)	1832	DSP	Uncertain significance	764965132	RCV000208025;	N	MedGen:CN033270,OMIM:604772	6	7575688	7575688	NM_004415.3:c.2597G>A	NP_004406.2:p.Arg866His	NC_000006.11:g.7575688G>A	-	CN033270 604772 Ventricular tachycardia, catecholaminergic polymorphic, 1
NM_000238.3(KCNH2):c.473-7C>G	3757	KCNH2	Uncertain significance	146570628	RCV000157270;	N	MedGen:CN033270,OMIM:604772	7	150655597	150655597	NM_000238.3:c.473-7C>G		NC_000007.13:g.150655597G>A,NC_000007.13:g.150655597G>C	-	CN033270 604772 Ventricular tachycardia, catecholaminergic polymorphic, 1
NM_001105206.2(LAMA4):c.2576C>T (p.Thr859Met)	3910	LAMA4	Uncertain significance	730880121	RCV000157277;	N	MedGen:CN033270,OMIM:604772	6	112463412	112463412	NM_001105206.2:c.2576C>T	NP_001098676.2:p.Thr859Met	NC_000006.11:g.112463412G>A	-	CN033270 604772 Ventricular tachycardia, catecholaminergic polymorphic, 1
NM_005572.3(LMNA):c.1201C>T (p.Arg401Cys)	4000	LMNA	Uncertain significance	61094188	RCV000157295; RCV000172002; RCV000057258; RCV000041313;	N	MedGen:C0410189, Orphanet:ORPHA261,SNOMED CT:111508004; MedGen:CN033270,OMIM:604772; MedGen:CN169374; MedGen:CN221809	1	156106048	156106048	NM_005572.3:c.1201C>T	NP_005563.1:p.Arg401Cys	NC_000001.10:g.156106048C>T	-	C0410189 Emery-Dreifuss muscular dystrophy; CN221809 not provided; CN169374 not specified; CN033270 604772 Ventricular tachycardia, catecholaminergic polymorphic, 1
NM_000256.3(MYBPC3):c.3118T>G (p.Ser1040Ala)	4607	MYBPC3	Uncertain significance	730880139	RCV000157316;	N	MedGen:CN033270,OMIM:604772	11	47355180	47355180	NM_000256.3:c.3118T>G	NP_000247.2:p.Ser1040Ala	NC_000011.9:g.47355180A>C	-	CN033270 604772 Ventricular tachycardia, catecholaminergic polymorphic, 1
NM_000256.3(MYBPC3):c.503T>C (p.Val168Ala)	4607	MYBPC3	Likely benign;Uncertain significance	727505267	RCV000157303; RCV000156792;	N	MedGen:CN033270,OMIM:604772; MedGen:CN169374	11	47371567	47371567	NM_000256.3:c.503T>C	NP_000247.2:p.Val168Ala	NC_000011.9:g.47371567A>G	-	CN169374 not specified; CN033270 604772 Ventricular tachycardia, catecholaminergic polymorphic, 1
NM_001035.2(RYR2):c.169-199_273+819del	6262	RYR2	Pathogenic	-1	RCV000022760;	N	MedGen:CN033270,OMIM:604772	1	237493979	237495101	NM_001035.2:c.169-199_273+819del			OMIM Allelic Variant:180902.0011,dbVar:nssv3761586,dbVar:nsv1067837	CN033270 604772 Ventricular tachycardia, catecholaminergic polymorphic, 1
NM_001035.2(RYR2):c.365G>A (p.Arg122His)	6262	RYR2	Likely pathogenic;Uncertain significance	727503396	RCV000157442; RCV000151753;	N	MedGen:CN033270,OMIM:604772; MedGen:CN169374	1	237532889	237532889	NM_001035.2:c.365G>A	NP_001026.2:p.Arg122His	NC_000001.10:g.237532889G>A	-	CN169374 not specified; CN033270 604772 Ventricular tachycardia, catecholaminergic polymorphic, 1
NM_001035.2(RYR2):c.527G>A (p.Arg176Gln)	6262	RYR2	Pathogenic	794728708	RCV000208033; RCV000182659;	N	MedGen:CN033270,OMIM:604772; MedGen:CN221809	1	237540686	237540686	NM_001035.2:c.527G>A	NP_001026.2:p.Arg176Gln	NC_000001.10:g.237540686G>A,NC_000001.10:g.237540686G>T	-	CN221809 not provided; CN033270 604772 Ventricular tachycardia, catecholaminergic polymorphic, 1
NM_001035.2(RYR2):c.1144G>A (p.Val382Met)	6262	RYR2	Uncertain significance	370057029	RCV000202980; RCV000182675;	N	MedGen:CN033270,OMIM:604772; MedGen:CN169374	1	237604757	237604757	NM_001035.2:c.1144G>A	NP_001026.2:p.Val382Met	NC_000001.10:g.237604757G>A	-	CN169374 not specified; CN033270 604772 Ventricular tachycardia, catecholaminergic polymorphic, 1
NM_001035.2(RYR2):c.1604A>G (p.Glu535Gly)	6262	RYR2	Uncertain significance	869025509	RCV000208013;	N	MedGen:CN033270,OMIM:604772	1	237620027	237620027	NM_001035.2:c.1604A>G	NP_001026.2:p.Glu535Gly	NC_000001.10:g.237620027A>G	-	CN033270 604772 Ventricular tachycardia, catecholaminergic polymorphic, 1
NM_001035.2(RYR2):c.1847C>T (p.Ser616Leu)	6262	RYR2	Likely pathogenic	730880187	RCV000157444;	N	MedGen:CN033270,OMIM:604772	1	237656273	237656273	NM_001035.2:c.1847C>T	NP_001026.2:p.Ser616Leu	NC_000001.10:g.237656273C>T	-	CN033270 604772 Ventricular tachycardia, catecholaminergic polymorphic, 1
NM_001035.2(RYR2):c.2204-7C>G	6262	RYR2	Benign	147479514	RCV000204496; RCV000030417; RCV000036713;	N	MedGen:C0878544, Orphanet:ORPHA167848,SNOMED CT:85898001; MedGen:CN033270,OMIM:604772; MedGen:CN169374	1	237664004	237664004	NM_001035.2:c.2204-7C>G		NC_000001.10:g.237664004C>G	-	C0878544 Cardiomyopathy; CN169374 not specified; CN033270 604772 Ventricular tachycardia, catecholaminergic polymorphic, 1
NM_001035.2(RYR2):c.2306G>T (p.Arg769Leu)	6262	RYR2	Uncertain significance	754901791	RCV000185547; RCV000185548;	N	MedGen:C1832931,OMIM:600996; MedGen:CN033270,OMIM:604772	1	237664113	237664113	NM_001035.2:c.2306G>T	NP_001026.2:p.Arg769Leu	NC_000001.10:g.237664113G>T	-	C1832931 600996 Arrhythmogenic right ventricular cardiomyopathy, type 2; CN033270 604772 Ventricular tachycardia, catecholaminergic polymorphic, 1
NM_001035.2(RYR2):c.3038G>A (p.Arg1013Gln)	6262	RYR2	Uncertain significance	149514924	RCV000148833; RCV000182707;	N	MedGen:CN033270,OMIM:604772; MedGen:CN169374	1	237711862	237711862	NM_001035.2:c.3038G>A	NP_001026.2:p.Arg1013Gln	NC_000001.10:g.237711862G>A	-	CN169374 not specified; CN033270 604772 Ventricular tachycardia, catecholaminergic polymorphic, 1
NM_001035.2(RYR2):c.3271G>A (p.Glu1091Lys)	6262	RYR2	Likely pathogenic	730880191	RCV000157453;	N	MedGen:CN033270,OMIM:604772	1	237729923	237729923	NM_001035.2:c.3271G>A	NP_001026.2:p.Glu1091Lys	NC_000001.10:g.237729923G>A	-	CN033270 604772 Ventricular tachycardia, catecholaminergic polymorphic, 1
NM_001035.2(RYR2):c.3320C>T (p.Thr1107Met)	6262	RYR2	Likely benign;Uncertain significance	200236750	RCV000171761; RCV000036728;	N	MedGen:CN033270,OMIM:604772; MedGen:CN169374	1	237729972	237729972	NM_001035.2:c.3320C>T	NP_001026.2:p.Thr1107Met	NC_000001.10:g.237729972C>T	-	CN169374 not specified; CN033270 604772 Ventricular tachycardia, catecholaminergic polymorphic, 1
NM_001035.2(RYR2):c.3407C>T (p.Ala1136Val)	6262	RYR2	Benign	72549415	RCV000203794; RCV000036730;	N	MedGen:CN033270,OMIM:604772; MedGen:CN169374	1	237730059	237730059	NM_001035.2:c.3407C>T	NP_001026.2:p.Ala1136Val	NC_000001.10:g.237730059C>T	-	CN169374 not specified; CN033270 604772 Ventricular tachycardia, catecholaminergic polymorphic, 1
NM_001035.2(RYR2):c.6337G>A (p.Val2113Met)	6262	RYR2	Likely benign;Uncertain significance	186906598	RCV000171764; RCV000036777;	N	MedGen:CN033270,OMIM:604772; MedGen:CN169374	1	237791277	237791277	NM_001035.2:c.6337G>A	NP_001026.2:p.Val2113Met	NC_000001.10:g.237791277G>A	-	CN169374 not specified; CN033270 604772 Ventricular tachycardia, catecholaminergic polymorphic, 1
NM_001035.2(RYR2):c.6737C>T (p.Ser2246Leu)	6262	RYR2	Pathogenic	121918597	RCV000013820; RCV000182746;	N	MedGen:CN033270,OMIM:604772; MedGen:CN221809	1	237798237	237798237	NM_001035.2:c.6737C>T	NP_001026.2:p.Ser2246Leu	NC_000001.10:g.237798237C>T	OMIM Allelic Variant:180902.0001	CN221809 not provided; CN033270 604772 Ventricular tachycardia, catecholaminergic polymorphic, 1
NM_001035.2(RYR2):c.6928+4G>A	6262	RYR2	Benign	79862521	RCV000205682; RCV000036784;	N	MedGen:CN033270,OMIM:604772; MedGen:CN169374	1	237801796	237801796	NM_001035.2:c.6928+4G>A		NC_000001.10:g.237801796G>A	-	CN169374 not specified; CN033270 604772 Ventricular tachycardia, catecholaminergic polymorphic, 1
NM_001035.2(RYR2):c.6982C>T (p.Pro2328Ser)	6262	RYR2	Pathogenic	121918603	RCV000013826;	N	MedGen:CN033270,OMIM:604772	1	237802368	237802368	NM_001035.2:c.6982C>T	NP_001026.2:p.Pro2328Ser	NC_000001.10:g.237802368C>T	OMIM Allelic Variant:180902.0007	CN033270 604772 Ventricular tachycardia, catecholaminergic polymorphic, 1
NM_001035.2(RYR2):c.7202G>A (p.Arg2401His)	6262	RYR2	Likely pathogenic;Pathogenic	794728756	RCV000208074; RCV000182760;	N	MedGen:CN033270,OMIM:604772; MedGen:CN221809	1	237804283	237804283	NM_001035.2:c.7202G>A	NP_001026.2:p.Arg2401His	NC_000001.10:g.237804283G>A,NC_000001.10:g.237804283G>T	-	CN221809 not provided; CN033270 604772 Ventricular tachycardia, catecholaminergic polymorphic, 1
NM_001035.2(RYR2):c.7422G>C (p.Arg2474Ser)	6262	RYR2	Pathogenic	121918598	RCV000013821;	N	MedGen:CN033270,OMIM:604772	1	237811823	237811823	NM_001035.2:c.7422G>C	NP_001026.2:p.Arg2474Ser	NC_000001.10:g.237811823G>C	OMIM Allelic Variant:180902.0002	CN033270 604772 Ventricular tachycardia, catecholaminergic polymorphic, 1
NM_001035.2(RYR2):c.7493C>T (p.Ala2498Val)	6262	RYR2	Likely benign	374191985	RCV000148832;	N	MedGen:CN033270,OMIM:604772	1	237811894	237811894	NM_001035.2:c.7493C>T	NP_001026.2:p.Ala2498Val	NC_000001.10:g.237811894C>T	-	CN033270 604772 Ventricular tachycardia, catecholaminergic polymorphic, 1
NM_001035.2(RYR2):c.9352G>A (p.Gly3118Arg)	6262	RYR2	Uncertain significance	730880194	RCV000157462;	N	MedGen:CN033270,OMIM:604772	1	237863752	237863752	NM_001035.2:c.9352G>A	NP_001026.2:p.Gly3118Arg	NC_000001.10:g.237863752G>A	-	CN033270 604772 Ventricular tachycardia, catecholaminergic polymorphic, 1
NM_001035.2(RYR2):c.9449+8T>A	6262	RYR2	Benign	60777199	RCV000206308; RCV000036804;	N	MedGen:CN033270,OMIM:604772; MedGen:CN169374	1	237865367	237865367	NM_001035.2:c.9449+8T>A		NC_000001.10:g.237865367T>A	-	CN169374 not specified; CN033270 604772 Ventricular tachycardia, catecholaminergic polymorphic, 1
NM_001035.2(RYR2):c.10324-4A>G	6262	RYR2	Benign;Likely benign	72751287	RCV000202863; RCV000036649;	N	MedGen:CN033270,OMIM:604772; MedGen:CN169374	1	237880494	237880494	NM_001035.2:c.10324-4A>G		NC_000001.10:g.237880494A>G	-	CN169374 not specified; CN033270 604772 Ventricular tachycardia, catecholaminergic polymorphic, 1
NM_001035.2(RYR2):c.11197G>A (p.Asp3733Asn)	6262	RYR2	Uncertain significance	760307737	RCV000206608;	N	MedGen:CN033270,OMIM:604772	1	237919639	237919639	NM_001035.2:c.11197G>A	NP_001026.2:p.Asp3733Asn	NC_000001.10:g.237919639G>A	-	CN033270 604772 Ventricular tachycardia, catecholaminergic polymorphic, 1
NM_001035.2(RYR2):c.11570A>G (p.Tyr3857Cys)	6262	RYR2	Likely pathogenic	587782975	RCV000143948; RCV000182797;	N	MedGen:CN033270,OMIM:604772; MedGen:CN221809	1	237935324	237935324	NM_001035.2:c.11570A>G	NP_001026.2:p.Tyr3857Cys	NC_000001.10:g.237935324A>G	-	CN221809 not provided; CN033270 604772 Ventricular tachycardia, catecholaminergic polymorphic, 1
NM_001035.2(RYR2):c.12312C>G (p.Asn4104Lys)	6262	RYR2	Pathogenic	121918599	RCV000013822;	N	MedGen:CN033270,OMIM:604772	1	237947324	237947324	NM_001035.2:c.12312C>G	NP_001026.2:p.Asn4104Lys	NC_000001.10:g.237947324C>G	OMIM Allelic Variant:180902.0003	CN033270 604772 Ventricular tachycardia, catecholaminergic polymorphic, 1
NM_001035.2(RYR2):c.12325A>G (p.Met4109Val)	6262	RYR2	Likely pathogenic	730880196	RCV000157465;	N	MedGen:CN033270,OMIM:604772	1	237947337	237947337	NM_001035.2:c.12325A>G	NP_001026.2:p.Met4109Val	NC_000001.10:g.237947337A>G	-	CN033270 604772 Ventricular tachycardia, catecholaminergic polymorphic, 1
NM_001035.2(RYR2):c.12602A>G (p.Gln4201Arg)	6262	RYR2	Pathogenic	121918605	RCV000013828;	N	MedGen:CN033270,OMIM:604772	1	237947614	237947614	NM_001035.2:c.12602A>G	NP_001026.2:p.Gln4201Arg	NC_000001.10:g.237947614A>G	OMIM Allelic Variant:180902.0009	CN033270 604772 Ventricular tachycardia, catecholaminergic polymorphic, 1
NM_001035.2(RYR2):c.13476+6_13476+7insTGTT	6262	RYR2	Uncertain significance	864309562	RCV000203178;	N	MedGen:CN033270,OMIM:604772	1	237951441	237951442	NM_001035.2:c.13476+6_13476+7insTGTT		NC_000001.10:g.237951441_237951442insTGTT	-	CN033270 604772 Ventricular tachycardia, catecholaminergic polymorphic, 1
NM_001035.2(RYR2):c.13489C>T (p.Arg4497Cys)	6262	RYR2	Pathogenic	121918600	RCV000013823;	N	MedGen:CN033270,OMIM:604772	1	237954741	237954741	NM_001035.2:c.13489C>T	NP_001026.2:p.Arg4497Cys	NC_000001.10:g.237954741C>T	OMIM Allelic Variant:180902.0004	CN033270 604772 Ventricular tachycardia, catecholaminergic polymorphic, 1
NM_001035.2(RYR2):c.13528G>A (p.Ala4510Thr)	6262	RYR2	Likely pathogenic;Uncertain significance	397516510	RCV000208469; RCV000036678;	N	MedGen:CN033270,OMIM:604772; MedGen:CN169374	1	237954780	237954780	NM_001035.2:c.13528G>A	NP_001026.2:p.Ala4510Thr	NC_000001.10:g.237954780G>A,NC_000001.10:g.237954780G>T	-	CN169374 not specified; CN033270 604772 Ventricular tachycardia, catecholaminergic polymorphic, 1
NM_001035.2(RYR2):c.13564-41A>G	6262	RYR2	Benign	114289907	RCV000202797;	N	MedGen:CN033270,OMIM:604772	1	237955364	237955364	NM_001035.2:c.13564-41A>G		NC_000001.10:g.237955364A>G	-	CN033270 604772 Ventricular tachycardia, catecholaminergic polymorphic, 1
NM_001035.2(RYR2):c.13957G>T (p.Val4653Phe)	6262	RYR2	Likely pathogenic;Pathogenic	121918604	RCV000013827;	N	MedGen:CN033270,OMIM:604772	1	237961337	237961337	NM_001035.2:c.13957G>T	NP_001026.2:p.Val4653Phe	NC_000001.10:g.237961337G>T	OMIM Allelic Variant:180902.0008	CN033270 604772 Ventricular tachycardia, catecholaminergic polymorphic, 1
NM_001035.2(RYR2):c.13983C>T (p.Tyr4661=)	6262	RYR2	Benign;Likely benign	138498780	RCV000206826; RCV000036687;	N	MedGen:CN033270,OMIM:604772; MedGen:CN169374	1	237961363	237961363	NM_001035.2:c.13983C>T	NP_001026.2:p.Tyr4661=	NC_000001.10:g.237961363C>T	-	CN169374 not specified; CN033270 604772 Ventricular tachycardia, catecholaminergic polymorphic, 1
NM_001035.2(RYR2):c.14579C>G (p.Ala4860Gly)	6262	RYR2	Pathogenic	121918606	RCV000013829;	N	MedGen:CN033270,OMIM:604772	1	237982481	237982481	NM_001035.2:c.14579C>G	NP_001026.2:p.Ala4860Gly	NC_000001.10:g.237982481C>G	OMIM Allelic Variant:180902.0010	CN033270 604772 Ventricular tachycardia, catecholaminergic polymorphic, 1
NM_001035.2(RYR2):c.14726C>T (p.Thr4909Ile)	6262	RYR2	Likely pathogenic	730880201	RCV000157470;	N	MedGen:CN033270,OMIM:604772	1	237993900	237993900	NM_001035.2:c.14726C>T	NP_001026.2:p.Thr4909Ile	NC_000001.10:g.237993900C>T	-	CN033270 604772 Ventricular tachycardia, catecholaminergic polymorphic, 1
NM_001035.2(RYR2):c.14733G>A (p.Gln4911=)	6262	RYR2	Likely benign	751453181	RCV000205512;	N	MedGen:CN033270,OMIM:604772	1	237993907	237993907	NM_001035.2:c.14733G>A	NP_001026.2:p.Gln4911=	NC_000001.10:g.237993907G>A	-	CN033270 604772 Ventricular tachycardia, catecholaminergic polymorphic, 1
NM_174934.3(SCN4B):c.592_593+1delAAG	6330	SCN4B	Uncertain significance	587782976	RCV000143950;	N	MedGen:CN033270,OMIM:604772	11	118011921	118011923	NM_174934.3:c.592_593+1delAAG		NC_000011.9:g.118011921_118011923delCTT	-	CN033270 604772 Ventricular tachycardia, catecholaminergic polymorphic, 1
NM_001099405.1(SCN5A):c.1840C>T (p.Pro614Ser)	6331	SCN5A	Uncertain significance	730880204	RCV000157482;	N	MedGen:CN033270,OMIM:604772	3	38645253	38645253	NM_001099405.1:c.1840C>T	NP_001092875.1:p.Pro614Ser	NC_000003.11:g.38645253G>A	-	CN033270 604772 Ventricular tachycardia, catecholaminergic polymorphic, 1
NM_198056.2(SCN5A):c.52C>T (p.Arg18Trp)	6331	SCN5A	Uncertain significance	199473044	RCV000157474; RCV000058764; RCV000212988;	N	MedGen:CN033270,OMIM:604772; MedGen:CN169374; MedGen:CN221809	3	38674747	38674747	NM_198056.2:c.52C>T	NP_932173.1:p.Arg18Trp	NC_000003.11:g.38674747G>A	-	CN221809 not provided; CN169374 not specified; CN033270 604772 Ventricular tachycardia, catecholaminergic polymorphic, 1
NM_000366.5(TPM1):c.375-3C>T	7168	TPM1	Likely benign;Uncertain significance	202228866	RCV000157544; RCV000154861;	N	MedGen:CN033270,OMIM:604772; MedGen:CN169374	15	63351759	63351759	NM_000366.5:c.375-3C>T		NC_000015.9:g.63351759C>T	-	CN169374 not specified; CN033270 604772 Ventricular tachycardia, catecholaminergic polymorphic, 1
NM_001195227.1(TRPM4):c.3077G>A (p.Arg1026His)	54795	TRPM4	Uncertain significance	762615860	RCV000208482;	N	MedGen:CN033270,OMIM:604772	19	49714322	49714322	NM_001195227.1:c.3077G>A	NP_001182156.1:p.Arg1026His	NC_000019.9:g.49714322G>A	-	CN033270 604772 Ventricular tachycardia, catecholaminergic polymorphic, 1