Unique variants in the RYR2 gene

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

778 entries on 8 pages. Showing entries 1 - 100.
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Effect     

Reported     

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     
+/. 2 - 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, PubMed: Medeiros-Domingo 2009 - - Germline - - - - - Johan den Dunnen
+/. 1 - c.3.6kb deletion r.(?) p.(?) - pathogenic g.? - 3.6kb deletion - NPHS2_000000 1 more item PubMed: Medeiros-Domingo 2009 - - Germline - - - - - Johan den Dunnen
+/., -/. 27 - c.? r.(?) p.(?) - benign, pathogenic g.? - - - NPHS2_000000 data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; PubMed: Beckmann 2008, PubMed: Beery 2009, PubMed: Berge 2008, PubMed: Creigthon 2006, 9 more items - - Germline - - - - - Johan den Dunnen
-/. 1 - 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 - - - - - VKGL-NL_Groningen
?/. 1 - 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
+/. 1 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 - - - - - Johan den Dunnen
+/. 4 0 c.230C>T r.(?) p.(?), p.(Ala77Val) - pathogenic g.237494239C>T g.237330939C>T C230T, RYR2(NM_001035.3):c.230C>T (p.A77V) - RYR2_000772 VKGL data sharing initiative Nederland, 1 more item PubMed: d'Amati 2005, PubMed: Medeiros-Domingo 2009 - - CLASSIFICATION record, Germline - - - - - Johan den Dunnen, VKGL-NL_AMC
+/. 1 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 - - - - - Johan den Dunnen
-?/. 1 - 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 - - - - - VKGL-NL_AMC
-/. 1 - 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 - - - - - VKGL-NL_AMC
?/. 1 - 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
-/. 1 - 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
?/. 1 - 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
-?/. 1 - 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
-/. 1 - 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 - - - - - VKGL-NL_Groningen
?/. 1 - 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
+?/. 1 - 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 - - - - - VKGL-NL_AMC
-?/. 1 - 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
-?/. 1 - 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
-?/. 1 - 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 - - - - - VKGL-NL_Groningen
-/. 2 - 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 - - - - - VKGL-NL_Groningen, VKGL-NL_AMC
-/., -?/. 2 - c.464-8A>T r.(=) p.(=) - benign, 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, VKGL-NL_AMC
?/. 2 - 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_Utrecht, VKGL-NL_AMC
+/. 2 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, PubMed: Tester 2006 - - Germline - - - - - Johan den Dunnen
+/. 2 0 c.493C>T r.(?) p.(?) - pathogenic g.237540652C>T g.237377352C>T C493T - RYR2_000775 1 more item PubMed: Choi 2004, PubMed: Medeiros-Domingo 2009 - - Germline - - - - - Johan den Dunnen
+/., +?/. 4 0 c.506G>A r.(?) p.(?), p.(Arg169Gln) - likely pathogenic, pathogenic g.237540665G>A g.237377365G>A G506A - RYR2_000776 1 heterozygous, no homozygous; Clinindb (India), 1 more item PubMed: Hsueh 2006, PubMed: Medeiros-Domingo 2009, PubMed: Narang 2020, Journal: Narang 2020 - rs397516539 Germline - 1/2795 individuals - - - Johan den Dunnen, Mohammed Faruq
+/. 3 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 , PubMed: Tester 2005, PubMed: Tiso 2001 - - Germline - - - - - Johan den Dunnen
+/. 1 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 - - - - - Johan den Dunnen
+/. 3 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, PubMed: Jones 2010, PubMed: Medeiros-Domingo 2009 - - Germline - - - - - Johan den Dunnen
-/., -?/. 3 - c.576+7G>C r.(=) p.(=) - benign, 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 - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_AMC
-?/. 2 - 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, VKGL-NL_AMC
-?/. 1 - 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
?/. 1 - 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
-?/. 1 - 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
?/. 1 - 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
-/. 1 - 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
-?/., ?/. 3 - c.649A>G r.(?) p.(Ile217Val) - likely benign, 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 - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht, VKGL-NL_AMC
-?/. 1 - 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 - - - - - VKGL-NL_Utrecht
-/. 1 - 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 - - - - - VKGL-NL_AMC
+?/. 1 - 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 - - - - - VKGL-NL_Utrecht
+?/. 1 - 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 - - - Mohammed Faruq
-?/. 1 - 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
+?/. 1 - 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 - - - - - VKGL-NL_AMC
-/., -?/. 2 - c.726C>T r.(?) p.(Asp242=) - benign, 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, VKGL-NL_AMC
+/., ?/. 2 0 c.727G>A r.(?) p.(?), p.(Glu243Lys) - pathogenic, VUS g.237551437G>A g.237388137G>A G727A, RYR2(NM_001035.3):c.727G>A (p.E243K) - RYR2_000743 VKGL data sharing initiative Nederland, 1 more item PubMed: Medeiros-Domingo 2009 - - CLASSIFICATION record, Germline - - - - - Johan den Dunnen, VKGL-NL_AMC
?/. 1 - 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
?/. 1 - 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
-/. 1 - 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 - - - - - VKGL-NL_Utrecht
-/. 1 - 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
?/. 1 - 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 - - - - - VKGL-NL_Groningen
-?/. 1 - 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
+?/., ?/. 3 - c.836C>T r.(?) p.(Thr279Met) - likely pathogenic, VUS g.237580411C>T g.237417111C>T RYR2(NM_001035.2):c.836C>T (p.T279M), RYR2(NM_001035.3):c.836C>T (p.T279M) - RYR2_001122 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Utrecht, VKGL-NL_AMC
-?/. 1 - c.848+8G>C r.(=) p.(=) - likely benign g.237580431G>C g.237417131G>C RYR2(NM_001035.2):c.848+8G>C - RYR2_001337 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 1 - c.849-8T>C r.(=) p.(=) - benign g.237586384T>C g.237423084T>C RYR2(NM_001035.3):c.849-8T>C - RYR2_001123 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 2 - c.892C>T r.(?) p.(Arg298Cys) - VUS g.237586435C>T g.237423135C>T RYR2(NM_001035.2):c.892C>T (p.R298C), RYR2(NM_001035.3):c.892C>T (p.R298C) - RYR2_000809 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_AMC
?/. 1 - c.893G>A r.(?) p.(Arg298His) - VUS g.237586436G>A g.237423136G>A RYR2(NM_001035.3):c.893G>A (p.R298H) - RYR2_001124 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.950T>C r.(?) p.(Met317Thr) - VUS g.237586493T>C g.237423193T>C RYR2(NM_001035.3):c.950T>C (p.M317T) - RYR2_000810 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 1 0 c.985T>C r.(?) p.(?) - pathogenic g.237586528T>C g.237423228T>C T985C - RYR2_000744 data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; PubMed: Medeiros-Domingo 2009 - - Germline - - - - - Johan den Dunnen
+/., ?/. 3 0 c.994C>T r.(?) p.(?), p.(Arg332Trp) ACMG pathogenic, VUS g.237586537C>T g.237423237C>T C994T - RYR2_000745 ACMG grading: PM2,PP3 secondary finding, ACMG: PM2,PP3, 1 more item PubMed: Medeiros-Domingo 2009 - rs876657995 Germline - - - - - Johan den Dunnen, Andreas Laner
-?/. 1 - c.1005+6A>G r.(=) p.(=) - likely benign g.237586554A>G g.237423254A>G RYR2(NM_001035.2):c.1005+6A>G - RYR2_001338 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/., -?/. 3 - c.1005+13A>G r.(=) p.(=) - benign, likely benign g.237586561A>G g.237423261A>G RYR2(NM_001035.2):c.1005+13A>G, RYR2(NM_001035.3):c.1005+13A>G - RYR2_000811 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Utrecht, VKGL-NL_AMC
-/., -?/. 2 - c.1006-12C>T r.(=) p.(=) - benign, likely benign g.237604607C>T g.237441307C>T RYR2(NM_001035.3):c.1006-12C>T - RYR2_001125 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_AMC
+?/. 1 - c.1006-3T>G r.spl? p.? - likely pathogenic g.237604616T>G g.237441316T>G RYR2(NM_001035.3):c.1006-3T>G - RYR2_000812 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.1038A>G r.(?) p.(Val346=) - likely benign g.237604651A>G g.237441351A>G RYR2(NM_001035.2):c.1038A>G (p.V346=) - RYR2_000813 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. 1 - c.1053A>G r.(?) p.(Thr351=) - benign g.237604666A>G g.237441366A>G RYR2(NM_001035.2):c.1053A>G (p.T351=) - RYR2_000814 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 4 - c.1069G>A r.(?) p.(Gly357Ser) - pathogenic g.237604682G>A g.237441382G>A RYR2(NM_001035.2):c.1069G>A (p.G357S), RYR2(NM_001035.3):c.1069G>A (p.G357S) - RYR2_001126 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Utrecht, VKGL-NL_AMC
+/. 1 0 c.1072G>A r.(?) p.(?) - pathogenic g.237604685G>A g.237441385G>A G1072A - RYR2_000746 data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; PubMed: Medeiros-Domingo 2009 - - Germline - - - - - Johan den Dunnen
?/. 1 - c.1081T>C r.(?) p.(Cys361Arg) - VUS g.237604694T>C g.237441394T>C RYR2(NM_001035.3):c.1081T>C (p.C361R) - RYR2_000815 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 2 - c.1108C>T r.(?) p.(Leu370=) - likely benign g.237604721C>T g.237441421C>T RYR2(NM_001035.2):c.1108C>T (p.L370=) - RYR2_001127 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
-?/. 2 - c.1110A>G r.(?) p.(Leu370=) - likely benign g.237604723A>G g.237441423A>G RYR2(NM_001035.2):c.1110A>G (p.L370=) - RYR2_000816 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_Nijmegen
-/. 1 0 c.1129G>A r.(?) p.(?) - benign g.237604742G>A g.237441442G>A G1129A - RYR2_000747 data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; PubMed: Medeiros-Domingo 2009 - - Germline - - - - - Johan den Dunnen
-/., -?/. 5 - c.1134C>T r.(?) p.(Asp378=) - benign, likely benign g.237604747C>T g.237441447C>T RYR2(NM_001035.2):c.1134C>T (p.D378=), RYR2(NM_001035.3):c.1134C>T (p.D378=) - RYR2_000817 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Utrecht, VKGL-NL_Nijmegen, VKGL-NL_AMC
-?/. 3 - c.1135G>A r.(?) p.(Val379Met) - likely benign g.237604748G>A g.237441448G>A RYR2(NM_001035.2):c.1135G>A (p.V379M) - RYR2_001128 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Utrecht
-?/. 2 - c.1143C>T r.(?) p.(Ser381=) - likely benign g.237604756C>T g.237441456C>T RYR2(NM_001035.2):c.1143C>T (p.S381=) - RYR2_000818 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen
?/. 2 - c.1144G>A r.(?) p.(Val382Met) - VUS g.237604757G>A g.237441457G>A RYR2(NM_001035.2):c.1144G>A (p.V382M), RYR2(NM_001035.3):c.1144G>A (p.V382M) - RYR2_000819 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_AMC
-/. 1 - c.1170+10T>C r.(=) p.(=) - benign g.237604793T>C g.237441493T>C RYR2(NM_001035.3):c.1170+10T>C - RYR2_000820 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.1203T>C r.(?) p.(Asp401=) - likely benign g.237608733T>C g.237445433T>C RYR2(NM_001035.2):c.1203T>C (p.D401=) - RYR2_001268 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/., -?/. 4 - c.1218G>A r.(?) p.(Ser406=) - benign, likely benign g.237608748G>A g.237445448G>A RYR2(NM_001035.2):c.1218G>A (p.S406=, p.=), RYR2(NM_001035.3):c.1218G>A (p.S406=) - RYR2_000821 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Utrecht, VKGL-NL_AMC
+/., ?/. 5 0 c.1240C>T r.(?) p.(?), p.(Arg414Cys) - pathogenic, VUS g.237608770C>T g.237445470C>T C1240T, RYR2(NM_001035.2):c.1240C>T (p.R414C), RYR2(NM_001035.3):c.1240C>T (p.R414C) - RYR2_000748 4 heterozygous, no homozygous; Clinindb (India), VKGL data sharing initiative Nederland, 1 more item PubMed: Medeiros-Domingo 2009, PubMed: Narang 2020, Journal: Narang 2020, PubMed: Tester 2005 - rs764698152 CLASSIFICATION record, Germline - 4/2795 individuals - - - Johan den Dunnen, VKGL-NL_Groningen, VKGL-NL_AMC, Mohammed Faruq
?/. 2 - c.1241G>A r.(?) p.(Arg414His) - VUS g.237608771G>A g.237445471G>A RYR2(NM_001035.2):c.1241G>A (p.R414H), RYR2(NM_001035.3):c.1241G>A (p.R414H) - RYR2_000822 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
+/. 2 0 c.1241G>T r.(?) p.(?) - pathogenic g.237608771G>T g.237445471G>T G1241T - RYR2_000749 data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; PubMed: Choi 2004, PubMed: Tester 2005 - - Germline - - - - - Johan den Dunnen
+/. 1 0 c.1244C>G r.(?) p.(?) - pathogenic g.237608774C>G g.237445474C>G C1244G - RYR2_000750 data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; PubMed: Medeiros-Domingo 2009 - - Germline - - - - - Johan den Dunnen
+/. 2 0 c.1255A>T r.(?) p.(?) - pathogenic g.237608785A>T g.237445485A>T A1255T - RYR2_000751 data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; PubMed: Choi 2004, PubMed: Tester 2005 - - Germline - - - - - Johan den Dunnen
+/. 4 0 c.1258C>T r.(?) p.(?), p.(Arg420Trp) - pathogenic g.237608788C>T g.237445488C>T C1258T, RYR2(NM_001035.3):c.1258C>T (p.R420W) - RYR2_000752 VKGL data sharing initiative Nederland, 1 more item PubMed: Bauce 2002, PubMed: Nishio 2006, PubMed: Tester 2004 - - CLASSIFICATION record, Germline - - - - - Johan den Dunnen, VKGL-NL_AMC
+/. 1 0 c.1259G>A r.(?) p.(?) - pathogenic g.237608789G>A g.237445489G>A G1259A - RYR2_000753 data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; PubMed: Medeiros-Domingo 2009 - - Germline - - - - - Johan den Dunnen
-/. 1 - c.1266A>G r.(?) p.(Thr422=) - benign g.237608796A>G g.237445496A>G RYR2(NM_001035.3):c.1266A>G (p.T422=) - RYR2_000823 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/., -?/. 3 - c.1292+20C>T r.(=) p.(=) - benign, likely benign g.237608842C>T g.237445542C>T RYR2(NM_001035.2):c.1292+20C>T, RYR2(NM_001035.3):c.1292+20C>T - RYR2_000824 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_AMC
-/., -?/. 3 - c.1293-14A>G r.(=) p.(=) - benign, likely benign g.237617677A>G g.237454377A>G RYR2(NM_001035.2):c.1293-14A>G, RYR2(NM_001035.3):c.1293-14A>G - RYR2_000825 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Utrecht, VKGL-NL_AMC
-?/. 1 - c.1296C>A r.(?) p.(Gly432=) - likely benign g.237617694C>A g.237454394C>A RYR2(NM_001035.2):c.1296C>A (p.G432=) - RYR2_001129 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1296C>T r.(?) p.(Gly432=) - likely benign g.237617694C>T g.237454394C>T RYR2(NM_001035.2):c.1296C>T (p.G432=) - RYR2_000826 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 0 c.1298T>C r.(?) p.(?) - pathogenic g.237617696T>C g.237454396T>C T1298C - RYR2_000754 data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; PubMed: Tiso 2001 - - Germline - - - - - Johan den Dunnen
-?/. 1 - c.1319C>T r.(?) p.(Ala440Val) - likely benign g.237617717C>T - RYR2(NM_001035.2):c.1319C>T (p.A440V) - RYR2_001389 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.1320G>A r.(?) p.(Ala440=) - likely benign g.237617718G>A g.237454418G>A RYR2(NM_001035.2):c.1320G>A (p.A440=) - RYR2_000827 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 2 - c.1335C>T r.(?) p.(Val445=) - likely benign g.237617733C>T g.237454433C>T RYR2(NM_001035.2):c.1335C>T (p.V445=), RYR2(NM_001035.3):c.1335C>T (p.V445=) - RYR2_000828 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_AMC
?/. 1 - c.1343C>T r.(?) p.(Pro448Leu) - VUS g.237617741C>T g.237454441C>T RYR2(NM_001035.2):c.1343C>T (p.P448L) - RYR2_001130 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 15 c.1358G>C r.(?) p.(Ser453Thr) - likely pathogenic g.237617756G>C g.237454456G>C - - RYR2_000012 - - - - Germline - - - - - Sofie Lindgren Christiansen
-/. 3 - c.1359C>T r.(?) p.(Ser453=) - benign g.237617757C>T g.237454457C>T RYR2(NM_001035.2):c.1359C>T (p.S453=), RYR2(NM_001035.3):c.1359C>T (p.S453=) - RYR2_000829 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Nijmegen, VKGL-NL_AMC
?/. 1 - c.1392C>A r.(?) p.(His464Gln) - VUS g.237617790C>A g.237454490C>A RYR2(NM_001035.2):c.1392C>A (p.H464Q) - RYR2_001131 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/., -?/. 4 - c.1395C>A r.(?) p.(Pro465=) - benign, likely benign g.237617793C>A g.237454493C>A RYR2(NM_001035.2):c.1395C>A (p.P465=), RYR2(NM_001035.3):c.1395C>A (p.P465=) - RYR2_001132 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht, VKGL-NL_Nijmegen, VKGL-NL_AMC
+/., ?/. 4 0 c.1396C>G r.(?) p.(?), p.(Pro466Ala) ACMG pathogenic, VUS g.237617794C>G g.237454494C>G C1396G, RYR2(NM_001035.2):c.1396C>G (p.P466A) - RYR2_000109 VKGL data sharing initiative Nederland, 1 more item PubMed: Tester 2005 - rs376612295 CLASSIFICATION record, Germline - - - - - Johan den Dunnen, Andreas Laner, VKGL-NL_Groningen, VKGL-NL_Nijmegen
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