List of variants in gene RYR2 reported as pathogenic for polymorphic ventricular tachycardia

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 97

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HGVS	dbSNP	gnomAD frequency
NM_001035.3(RYR2):c.12334G>A (p.Asp4112Asn)	rs1695348814	0.00001
NM_001035.3(RYR2):c.1240C>T (p.Arg414Cys)	rs764698152	0.00001
NM_001035.3(RYR2):c.1258C>T (p.Arg420Trp)	rs190140598	0.00001
NM_001035.3(RYR2):c.848+1G>A	rs772984053	0.00001
NM_001035.3(RYR2):c.9352G>A (p.Gly3118Arg)	rs730880194	0.00001
NM_001035.3(RYR2):c.9872A>T (p.Asp3291Val)	rs1209752961	0.00001
GRCh37/hg19 1q43(chr1:237413038-237540797)
NC_000001.10:g.(?_237494158)_(237494302_?)del
NC_000001.11:g.(?_237330868)_(237330992_?)del
NM_001035.2(RYR2):c.(?_169)_(273_?)del (p.(?))
NM_001035.3(RYR2):c.10414C>T (p.Arg3472Trp)	rs1689344988
NM_001035.3(RYR2):c.10630_10652dup (p.Val3551_Leu3552insGlnArgArgArgTer)
NM_001035.3(RYR2):c.1069G>A (p.Gly357Ser)	rs1401116572
NM_001035.3(RYR2):c.11583G>T (p.Gln3861His)
NM_001035.3(RYR2):c.11623G>A (p.Val3875Ile)	rs1060500137
NM_001035.3(RYR2):c.11814C>A (p.Ser3938Arg)	rs794728704
NM_001035.3(RYR2):c.11836G>A (p.Gly3946Ser)	rs794728777
NM_001035.3(RYR2):c.11837G>A (p.Gly3946Asp)	rs1226397753
NM_001035.3(RYR2):c.11959G>C (p.Glu3987Gln)	rs794728778
NM_001035.3(RYR2):c.11989A>G (p.Lys3997Glu)	rs1064794210
NM_001035.3(RYR2):c.1198G>A (p.Asp400Asn)	rs1553454821
NM_001035.3(RYR2):c.1199A>C (p.Asp400Ala)
NM_001035.3(RYR2):c.12239A>G (p.Tyr4080Cys)	rs794728781
NM_001035.3(RYR2):c.12269C>T (p.Pro4090Leu)	rs2149353116
NM_001035.3(RYR2):c.12272C>T (p.Ala4091Val)	rs794728783
NM_001035.3(RYR2):c.12312C>G (p.Asn4104Lys)	rs121918599
NM_001035.3(RYR2):c.12322C>T (p.His4108Tyr)
NM_001035.3(RYR2):c.12372C>A (p.Ser4124Arg)	rs771994461
NM_001035.3(RYR2):c.1255A>T (p.Ile419Phe)
NM_001035.3(RYR2):c.1259G>A (p.Arg420Gln)	rs794728721
NM_001035.3(RYR2):c.1298T>C (p.Leu433Pro)	rs121918602
NM_001035.3(RYR2):c.13489C>T (p.Arg4497Cys)	rs121918600
NM_001035.3(RYR2):c.13528G>A (p.Ala4510Thr)	rs397516510
NM_001035.3(RYR2):c.13528G>C (p.Ala4510Pro)	rs397516510
NM_001035.3(RYR2):c.13763T>C (p.Ile4588Thr)	rs876661386
NM_001035.3(RYR2):c.13798T>C (p.Phe4600Leu)	rs2149388042
NM_001035.3(RYR2):c.13823G>A (p.Arg4608Gln)	rs1553328170
NM_001035.3(RYR2):c.13836T>G (p.Phe4612Leu)	rs2149388137
NM_001035.3(RYR2):c.13937A>C (p.Asp4646Ala)	rs1658967336
NM_001035.3(RYR2):c.13957G>T (p.Val4653Phe)	rs121918604
NM_001035.3(RYR2):c.14012G>A (p.Gly4671Asp)
NM_001035.3(RYR2):c.14174A>G (p.Tyr4725Cys)	rs2149437479
NM_001035.3(RYR2):c.14251A>G (p.Lys4751Glu)	rs794728802
NM_001035.3(RYR2):c.14288A>G (p.Asn4763Ser)	rs794728803
NM_001035.3(RYR2):c.14311G>A (p.Val4771Ile)	rs794728804
NM_001035.3(RYR2):c.14473G>A (p.Gly4825Arg)
NM_001035.3(RYR2):c.14553C>A (p.Phe4851Leu)	rs1291829047
NM_001035.3(RYR2):c.14569A>G (p.Ile4857Val)	rs1085307524
NM_001035.3(RYR2):c.14586A>G (p.Ile4862Met)	rs1558481148
NM_001035.3(RYR2):c.14590G>T (p.Gly4864Cys)	rs1553339086
NM_001035.3(RYR2):c.14638G>A (p.Val4880Ile)	rs2102926494
NM_001035.3(RYR2):c.14710G>A (p.Gly4904Ser)	rs2102947297
NM_001035.3(RYR2):c.14711G>A (p.Gly4904Asp)	rs886038888
NM_001035.3(RYR2):c.14777T>C (p.Ile4926Thr)	rs1663793007
NM_001035.3(RYR2):c.14864G>A (p.Gly4955Glu)	rs1553343100
NM_001035.3(RYR2):c.14876G>A (p.Arg4959Gln)	rs794728811
NM_001035.3(RYR2):c.14885A>G (p.Tyr4962Cys)	rs794728832
NM_001035.3(RYR2):c.14897T>C (p.Leu4966Pro)
NM_001035.3(RYR2):c.169-198_273+820del
NM_001035.3(RYR2):c.1814G>T (p.Gly605Val)
NM_001035.3(RYR2):c.230C>T (p.Ala77Val)	rs1060500142
NM_001035.3(RYR2):c.239A>G (p.Glu80Gly)	rs794728706
NM_001035.3(RYR2):c.344A>G (p.Tyr115Cys)	rs1558698334
NM_001035.3(RYR2):c.37T>C (p.Phe13Leu)	rs794728761
NM_001035.3(RYR2):c.490C>T (p.Pro164Ser)
NM_001035.3(RYR2):c.506G>A (p.Arg169Gln)	rs397516539
NM_001035.3(RYR2):c.514G>A (p.Gly172Arg)	rs1701129738
NM_001035.3(RYR2):c.5170G>A (p.Glu1724Lys)	rs794728740
NM_001035.3(RYR2):c.527G>A (p.Arg176Gln)	rs794728708
NM_001035.3(RYR2):c.567A>C (p.Glu189Asp)
NM_001035.3(RYR2):c.567A>T (p.Glu189Asp)	rs1415931588
NM_001035.3(RYR2):c.6202C>T (p.Arg2068Ter)	rs1679845277
NM_001035.3(RYR2):c.6504C>A (p.His2168Gln)	rs760237464
NM_001035.3(RYR2):c.6504C>G (p.His2168Gln)	rs760237464
NM_001035.3(RYR2):c.6602G>A (p.Cys2201Tyr)
NM_001035.3(RYR2):c.6632A>C (p.Gln2211Pro)
NM_001035.3(RYR2):c.6646G>C (p.Asp2216His)	rs1558103974
NM_001035.3(RYR2):c.6737C>T (p.Ser2246Leu)	rs121918597
NM_001035.3(RYR2):c.6886G>A (p.Glu2296Lys)	rs1060500156
NM_001035.3(RYR2):c.6900C>G (p.Asp2300Glu)	rs2148724390
NM_001035.3(RYR2):c.6916G>A (p.Val2306Ile)	rs794728746
NM_001035.3(RYR2):c.6933G>C (p.Glu2311Asp)	rs794728747
NM_001035.3(RYR2):c.6973A>G (p.Ile2325Val)
NM_001035.3(RYR2):c.6982C>G (p.Pro2328Ala)	rs121918603
NM_001035.3(RYR2):c.6982C>T (p.Pro2328Ser)	rs121918603
NM_001035.3(RYR2):c.7010G>T (p.Gly2337Val)	rs2148727943
NM_001035.3(RYR2):c.7157A>T (p.Asn2386Ile)	rs121918601
NM_001035.3(RYR2):c.7159G>A (p.Ala2387Thr)	rs794728753
NM_001035.3(RYR2):c.7160C>T (p.Ala2387Val)	rs794728754
NM_001035.3(RYR2):c.7175A>G (p.Tyr2392Cys)
NM_001035.3(RYR2):c.7202G>A (p.Arg2401His)	rs794728756
NM_001035.3(RYR2):c.7213G>A (p.Glu2405Lys)	rs2148739141
NM_001035.3(RYR2):c.7277T>G (p.Leu2426Arg)
NM_001035.3(RYR2):c.7421G>A (p.Arg2474Lys)	rs2148789775
NM_001035.3(RYR2):c.7422G>C (p.Arg2474Ser)	rs121918598
NM_001035.3(RYR2):c.7580T>G (p.Leu2527Trp)	rs1682561583
NM_001035.3(RYR2):c.7906G>A (p.Glu2636Lys)	rs1683044033

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