All variants in the RYR2 gene

Information The variants shown are described using the NM_001035.2 transcript reference sequence.

1280 entries on 13 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
+/. - c.1.1kb deletion r.(?) p.(?) - pathogenic g.? - 1.1kb deletion - NPHS2_000000 data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; PubMed: Bhuiyan 2007 - - Germline - - - 0 - Johan den Dunnen
+/. - c.1.1kb deletion r.(?) p.(?) - pathogenic g.? - 1.1kb deletion - NPHS2_000000 data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; PubMed: Medeiros-Domingo 2009 - - Germline - - - 0 - Johan den Dunnen
+/. - c.3.6kb deletion r.(?) p.(?) - pathogenic g.? - 3.6kb deletion - NPHS2_000000 data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; (grammar): Expected W:(acgt...) (at char 15), (line:1, col:16) PubMed: Medeiros-Domingo 2009 - - Germline - - - 0 - Johan den Dunnen
+/. - c.? r.(?) p.(?) - pathogenic g.? - - - NPHS2_000000 data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; PubMed: Creigthon 2006 - - Germline - - - 0 - Johan den Dunnen
+/. - c.? r.(?) p.(?) - pathogenic g.? - - - NPHS2_000000 data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; PubMed: Marjamaa 2009 - - Germline - - - 0 - Johan den Dunnen
+/. - c.? r.(?) p.(?) - pathogenic g.? - - - NPHS2_000000 data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; PubMed: Medeiros-Domingo 2009 - - Germline - - - 0 - Johan den Dunnen
+/. - c.? r.(?) p.(?) - pathogenic g.? - - - NPHS2_000000 data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; PubMed: Marjamaa 2009 - - Germline - - - 0 - Johan den Dunnen
+/. - c.? r.(?) p.(?) - pathogenic g.? - - - NPHS2_000000 data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; PubMed: Medeiros-Domingo 2009 - - Germline - - - 0 - Johan den Dunnen
+/. - c.? r.(?) p.(?) - pathogenic g.? - - - NPHS2_000000 data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; PubMed: Marjamaa 2009 - - Germline - - - 0 - Johan den Dunnen
+/. - c.? r.(?) p.(?) - pathogenic g.? - - - NPHS2_000000 data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; PubMed: Marjamaa 2009 - - Germline - - - 0 - Johan den Dunnen
+/. - c.? r.(?) p.(?) - pathogenic g.? - - - NPHS2_000000 data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; PubMed: Medeiros-Domingo 2009 - - Germline - - - 0 - Johan den Dunnen
+/. - c.? r.(?) p.(?) - pathogenic g.? - - - NPHS2_000000 data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; PubMed: Nishio 2008 - - Germline - - - 0 - Johan den Dunnen
+/. - c.? r.(?) p.(?) - pathogenic g.? - - - NPHS2_000000 data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; PubMed: Medeiros-Domingo 2009 - - Germline - - - 0 - Johan den Dunnen
+/. - c.? r.(?) p.(?) - pathogenic g.? - - - NPHS2_000000 data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; PubMed: Haugaa 2010 - - Germline - - - 0 - Johan den Dunnen
-/. - c.? r.(?) p.(?) - benign g.? - - - NPHS2_000000 data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; PubMed: Tester 2005 - - Germline - - - 0 - Johan den Dunnen
+/. - c.? r.(?) p.(?) - pathogenic g.? - - - NPHS2_000000 data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; PubMed: Marjamaa 2009 - - Germline - - - 0 - Johan den Dunnen
+/. - c.? r.(?) p.(?) - pathogenic g.? - - - NPHS2_000000 data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; PubMed: Marjamaa 2009 - - Germline - - - 0 - Johan den Dunnen
+/. - c.? r.(?) p.(?) - pathogenic g.? - - - NPHS2_000000 data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; PubMed: Davis 2006 - - Germline - - - 0 - Johan den Dunnen
+/. - c.? r.(?) p.(?) - pathogenic g.? - - - NPHS2_000000 data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; PubMed: Medeiros-Domingo 2009 - - Germline - - - 0 - Johan den Dunnen
+/. - c.? r.(?) p.(?) - pathogenic g.? - - - NPHS2_000000 data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; PubMed: Postma 2005 - - Germline - - - 0 - Johan den Dunnen
+/. - c.? r.(?) p.(?) - pathogenic g.? - - - NPHS2_000000 data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; PubMed: Hasdemir C 2008 - - Germline - - - 0 - Johan den Dunnen
+/. - c.? r.(?) p.(?) - pathogenic g.? - - - NPHS2_000000 data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; PubMed: Postma 2005 - - Germline - - - 0 - Johan den Dunnen
+/. - c.? r.(?) p.(?) - pathogenic g.? - - - NPHS2_000000 data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; PubMed: Berge 2008 - - Germline - - - 0 - Johan den Dunnen
+/. - c.? r.(?) p.(?) - pathogenic g.? - - - NPHS2_000000 data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; PubMed: Medeiros-Domingo 2009 - - Germline - - - 0 - Johan den Dunnen
+/. - c.? r.(?) p.(?) - pathogenic g.? - - - NPHS2_000000 data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; PubMed: Beckmann 2008 - - Germline - - - 0 - Johan den Dunnen
+/. - c.? r.(?) p.(?) - pathogenic g.? - - - NPHS2_000000 data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; PubMed: Beery 2009 - - Germline - - - 0 - Johan den Dunnen
+/. - c.? r.(?) p.(?) - pathogenic g.? - - - NPHS2_000000 data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; PubMed: Medeiros-Domingo 2009 - - Germline - - - 0 - Johan den Dunnen
+/. - c.? r.(?) p.(?) - pathogenic g.? - - - NPHS2_000000 data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; PubMed: Postma 2005 - - Germline - - - 0 - Johan den Dunnen
+/. - c.? r.(?) p.(?) - pathogenic g.? - - - NPHS2_000000 data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; PubMed: Haugaa 2010 - - Germline - - - 0 - Johan den Dunnen
+/. - c.? r.(?) p.(?) - pathogenic g.? - - - NPHS2_000000 data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; PubMed: Postma 2005 - - Germline - - - 0 - Johan den Dunnen
-/. - c.49-172C>T r.(=) p.(=) - benign g.237433625C>T g.237270325C>T RYR2(NM_001035.2):c.49-172C>T - RYR2_000790 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
?/. - c.141T>G r.(?) p.(Cys47Trp) - VUS g.237433889T>G g.237270589T>G RYR2(NM_001035.2):c.141T>G (p.C47W) - RYR2_001260 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 0 c.184C>T r.(?) p.(?) - pathogenic g.237494193C>T g.237330893C>T C184T - RYR2_000771 data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; PubMed: Medeiros-Domingo 2009 - - Germline - - - 0 - Johan den Dunnen
+/. 0 c.230C>T r.(?) p.(?) - pathogenic g.237494239C>T g.237330939C>T C230T - RYR2_000772 data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; PubMed: d'Amati 2005 - - Germline - - - 0 - Johan den Dunnen
+/. 0 c.230C>T r.(?) p.(?) - pathogenic g.237494239C>T g.237330939C>T C230T - RYR2_000772 data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; PubMed: Medeiros-Domingo 2009 - - Germline - - - 0 - Johan den Dunnen
+/. 0 c.230C>T r.(?) p.(?) - pathogenic g.237494239C>T g.237330939C>T C230T - RYR2_000772 data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; PubMed: D'Amati 2005 - - Germline - - - 0 - Johan den Dunnen
+/. - c.230C>T r.(?) p.(Ala77Val) - pathogenic g.237494239C>T g.237330939C>T RYR2(NM_001035.3):c.230C>T (p.A77V) - RYR2_000772 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 0 c.241A>C r.(?) p.(?) - pathogenic g.237494250A>C g.237330950A>C A241C - RYR2_000773 data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; PubMed: Medeiros-Domingo 2009 - - Germline - - - 0 - Johan den Dunnen
-?/. - c.273+3A>G r.spl? p.? - likely benign g.237494285A>G g.237330985A>G RYR2(NM_001035.3):c.273+3A>G - RYR2_000791 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.273+9C>T r.(=) p.(=) - benign g.237494291C>T g.237330991C>T RYR2(NM_001035.3):c.273+9C>T - RYR2_000792 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
?/. - c.281A>T r.(?) p.(Asp94Val) - VUS g.237519272A>T g.237355972A>T - - RYR2_001112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.294+7_294+8dup r.(=) p.(=) - benign g.237519292_237519293dup g.237355992_237355993dup RYR2(NM_001035.3):c.294+6_294+7dupTG - RYR2_001113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.309+1_309+5del r.spl? p.? - VUS g.237527673_237527677del g.237364373_237364377del RYR2(NM_001035.2):c.307_309+2delAAGGT - RYR2_001261 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.309+7C>T r.(=) p.(=) - likely benign g.237527679C>T g.237364379C>T RYR2(NM_001035.2):c.309+7C>T - RYR2_001114 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.310-23_310-21del r.(=) p.(=) - benign g.237532811_237532813del g.237369511_237369513del RYR2(NM_001035.2):c.310-23_310-21delCCT - RYR2_000794 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
?/. - c.322G>A r.(?) p.(Gly108Ser) - VUS g.237532846G>A g.237369546G>A - - RYR2_001262 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. - c.365G>A r.(?) p.(Arg122His) - likely pathogenic g.237532889G>A g.237369589G>A RYR2(NM_001035.3):c.365G>A (p.R122H) - RYR2_000795 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-?/. - c.375T>C r.(?) p.(Tyr125=) - likely benign g.237532899T>C g.237369599T>C RYR2(NM_001035.2):c.375T>C (p.Y125=) - RYR2_001115 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.385-9A>G r.(=) p.(=) - likely benign g.237538008A>G g.237374708A>G RYR2(NM_001035.2):c.385-9A>G - RYR2_001116 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.463+3A>G r.spl? p.? - likely benign g.237538098A>G g.237374798A>G RYR2(NM_001035.2):c.463+3A>G - RYR2_000796 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.464-8A>C r.(=) p.(=) - benign g.237540615A>C g.237377315A>C RYR2(NM_001035.2):c.464-8A>C, RYR2(NM_001035.3):c.464-8A>C - RYR2_000797 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.464-8A>C r.(=) p.(=) - benign g.237540615A>C g.237377315A>C RYR2(NM_001035.2):c.464-8A>C, RYR2(NM_001035.3):c.464-8A>C - RYR2_000797 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.464-8A>T r.(=) p.(=) - benign g.237540615A>T g.237377315A>T RYR2(NM_001035.3):c.464-8A>T - RYR2_000798 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-?/. - c.464-8A>T r.(=) p.(=) - likely benign g.237540615A>T g.237377315A>T RYR2(NM_001035.3):c.464-8A>T - RYR2_000798 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.473G>A r.(?) p.(Cys158Tyr) - VUS g.237540632G>A g.237377332G>A RYR2(NM_001035.2):c.473G>A (p.C158Y), RYR2(NM_001035.3):c.473G>A (p.C158Y) - RYR2_000799 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
?/. - c.473G>A r.(?) p.(Cys158Tyr) - VUS g.237540632G>A g.237377332G>A RYR2(NM_001035.2):c.473G>A (p.C158Y), RYR2(NM_001035.3):c.473G>A (p.C158Y) - RYR2_000799 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 0 c.490C>T r.(?) p.(?) - pathogenic g.237540649C>T g.237377349C>T C490T - RYR2_000774 data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; PubMed: Choi 2004 - - Germline - - - 0 - Johan den Dunnen
+/. 0 c.490C>T r.(?) p.(?) - pathogenic g.237540649C>T g.237377349C>T C490T - RYR2_000774 data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; PubMed: Tester 2006 - - Germline - - - 0 - Johan den Dunnen
+/. 0 c.493C>T r.(?) p.(?) - pathogenic g.237540652C>T g.237377352C>T C493T - RYR2_000775 data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; (variantchecker): C not found at position 613, found G instead. Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Choi 2004 - - Germline - - - 0 - Johan den Dunnen
+/. 0 c.493C>T r.(?) p.(?) - pathogenic g.237540652C>T g.237377352C>T C493T - RYR2_000775 data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; (variantchecker): C not found at position 613, found G instead. Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Medeiros-Domingo 2009 - - Germline - - - 0 - Johan den Dunnen
+/. 0 c.506G>A r.(?) p.(?) - pathogenic g.237540665G>A g.237377365G>A G506A - RYR2_000776 data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; PubMed: Hsueh 2006 - - Germline - - - 0 - Johan den Dunnen
+/. 0 c.506G>A r.(?) p.(?) - pathogenic g.237540665G>A g.237377365G>A G506A - RYR2_000776 data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; PubMed: Medeiros-Domingo 2009 - - Germline - - - 0 - Johan den Dunnen
+/. 0 c.506G>A r.(?) p.(?) - pathogenic g.237540665G>A g.237377365G>A G506A - RYR2_000776 data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; PubMed: Hsueh 2006 - - Germline - - - 0 - Johan den Dunnen
+?/. - c.506G>A r.(?) p.(Arg169Gln) - likely pathogenic g.237540665G>A g.237377365G>A - - RYR2_000776 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs397516539 Germline - 1/2795 individuals - 0 - Mohammed Faruq
+/. 0 c.527G>A r.(?) p.(?) - pathogenic g.237540686G>A g.237377386G>A G527A - RYR2_000777 data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; PubMed: Tiso 2001 - - Germline - - - 0 - Johan den Dunnen
+/. 0 c.527G>A r.(?) p.(?) - pathogenic g.237540686G>A g.237377386G>A G527A - RYR2_000777 data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; PubMed: Tester 2005 - - Germline - - - 0 - Johan den Dunnen
+/. 0 c.527G>A r.(?) p.(?) - pathogenic g.237540686G>A g.237377386G>A G527A - RYR2_000777 data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; PubMed: Haugaa 2010 - - Germline - - - 0 - Johan den Dunnen
+/. 0 c.556G>A r.(?) p.(?) - pathogenic g.237540715G>A g.237377415G>A G556A - RYR2_000046 data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; PubMed: Tester 2006 - - Germline - - - 0 - Johan den Dunnen
+/. 0 c.567A>T r.(?) p.(?) - pathogenic g.237540726A>T g.237377426A>T A567T - RYR2_000778 data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; PubMed: Davis 2006 - - Germline - - - 0 - Johan den Dunnen
+/. 0 c.567A>T r.(?) p.(?) - pathogenic g.237540726A>T g.237377426A>T A567T - RYR2_000778 data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; PubMed: Medeiros-Domingo 2009 - - Germline - - - 0 - Johan den Dunnen
+/. 0 c.567A>T r.(?) p.(?) - pathogenic g.237540726A>T g.237377426A>T A567T - RYR2_000778 data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; PubMed: Jones 2010 - - Germline - - - 0 - Johan den Dunnen
-?/. - c.576+7G>C r.(=) p.(=) - likely benign g.237540742G>C g.237377442G>C RYR2(NM_001035.2):c.576+7G>C, RYR2(NM_001035.3):c.576+7G>C - RYR2_000800 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.576+7G>C r.(=) p.(=) - benign g.237540742G>C g.237377442G>C RYR2(NM_001035.2):c.576+7G>C, RYR2(NM_001035.3):c.576+7G>C - RYR2_000800 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.576+7G>C r.(=) p.(=) - benign g.237540742G>C g.237377442G>C RYR2(NM_001035.2):c.576+7G>C, RYR2(NM_001035.3):c.576+7G>C - RYR2_000800 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.577-14G>A r.(=) p.(=) - likely benign g.237550567G>A g.237387267G>A RYR2(NM_001035.3):c.577-14G>A - RYR2_001263 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.577-14G>A r.(=) p.(=) - likely benign g.237550567G>A g.237387267G>A RYR2(NM_001035.3):c.577-14G>A - RYR2_001263 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.577-5_577-4insTT r.spl? p.? - likely benign g.237550576_237550577insTT g.237387276_237387277insTT - - RYR2_001264 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.577-4_577-2delinsTTATG r.spl? p.? - VUS g.237550577_237550579delinsTTATG g.237387277_237387279delinsTTATG - - RYR2_001265 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.577-3C>T r.spl? p.? - likely benign g.237550578C>T g.237387278C>T - - RYR2_001266 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.577-2A>G r.spl? p.? - VUS g.237550579A>G g.237387279A>G - - RYR2_001267 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.639C>T r.(?) p.(Ser213=) - benign g.237550643C>T g.237387343C>T RYR2(NM_001035.3):c.639C>T (p.S213=) - RYR2_001117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.649A>G r.(?) p.(Ile217Val) - VUS g.237550653A>G g.237387353A>G RYR2(NM_001035.2):c.649A>G (p.I217V), RYR2(NM_001035.3):c.649A>G (p.I217V) - RYR2_000801 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.649A>G r.(?) p.(Ile217Val) - likely benign g.237550653A>G g.237387353A>G RYR2(NM_001035.2):c.649A>G (p.I217V), RYR2(NM_001035.3):c.649A>G (p.I217V) - RYR2_000801 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.649A>G r.(?) p.(Ile217Val) - VUS g.237550653A>G - RYR2(NM_001035.2):c.649A>G (p.I217V), RYR2(NM_001035.3):c.649A>G (p.I217V) - RYR2_000801 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.651C>T r.(?) p.(Ile217=) - likely benign g.237550655C>T g.237387355C>T RYR2(NM_001035.2):c.651C>T (p.I217=) - RYR2_000802 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.677-11T>A r.(=) p.(=) - benign g.237551376T>A g.237388076T>A RYR2(NM_001035.3):c.677-11T>A - RYR2_000803 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
+?/. - c.689G>A r.(?) p.(Gly230Asp) - likely pathogenic g.237551399G>A g.237388099G>A RYR2(NM_001035.2):c.689G>A (p.G230D) - RYR2_000804 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
+?/. - c.704G>A r.(?) p.(Arg235Lys) - likely pathogenic g.237551414G>A g.237388114G>A - - RYR2_001329 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs794728711 Germline - 1/2795 individuals - 0 - Mohammed Faruq
-?/. - c.705G>A r.(?) p.(Arg235=) - likely benign g.237551415G>A - RYR2(NM_001035.2):c.705G>A (p.R235=) - RYR2_001348 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.724G>C r.(?) p.(Asp242His) - likely pathogenic g.237551434G>C g.237388134G>C RYR2(NM_001035.3):c.724G>C (p.D242H) - RYR2_000805 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.726C>T r.(?) p.(Asp242=) - benign g.237551436C>T g.237388136C>T RYR2(NM_001035.2):c.726C>T (p.D242=), RYR2(NM_001035.3):c.726C>T (p.D242=) - RYR2_001118 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.726C>T r.(?) p.(Asp242=) - likely benign g.237551436C>T g.237388136C>T RYR2(NM_001035.2):c.726C>T (p.D242=), RYR2(NM_001035.3):c.726C>T (p.D242=) - RYR2_001118 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 0 c.727G>A r.(?) p.(?) - pathogenic g.237551437G>A g.237388137G>A G727A - RYR2_000743 data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; PubMed: Medeiros-Domingo 2009 - - Germline - - - 0 - Johan den Dunnen
?/. - c.727G>A r.(?) p.(Glu243Lys) - VUS g.237551437G>A g.237388137G>A RYR2(NM_001035.3):c.727G>A (p.E243K) - RYR2_000743 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.745T>C r.(?) p.(Ser249Pro) - VUS g.237551455T>C g.237388155T>C RYR2(NM_001035.2):c.745T>C (p.S249P) - RYR2_001119 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.760G>A r.(?) p.(Glu254Lys) - VUS g.237551470G>A - RYR2(NM_001035.2):c.760G>A (p.E254K) - RYR2_001388 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.773+141C>T r.(=) p.(=) - benign g.237551624C>T g.237388324C>T RYR2(NM_001035.2):c.773+141C>T - RYR2_000806 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.774-9_774-8insG r.(=) p.(=) - benign g.237580340_237580341insG g.237417040_237417041insG RYR2(NM_001035.3):c.774-9_774-8insG - RYR2_001120 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.782A>G r.(?) p.(His261Arg) - VUS g.237580357A>G g.237417057A>G RYR2(NM_001035.2):c.782A>G (p.H261R) - RYR2_000808 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-?/. - c.828A>G r.(?) p.(Arg276=) - likely benign g.237580403A>G g.237417103A>G RYR2(NM_001035.2):c.828A>G (p.R276=) - RYR2_001121 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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