Full data view for gene RYR2

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

1591 entries on 16 pages. Showing entries 1 - 100.
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Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

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DB-ID     

Variant remarks     

Reference     

ClinVar ID     

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Segregation     

Frequency     

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Methylation     

Template     

Technique     

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Remarks     

Disease     

ID_report     

Reference     

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Owner     
+/. - c.1.1kb deletion r.(?) p.(?) Unknown - pathogenic g.? - 1.1kb deletion - NPHS2_000000 data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; PubMed: Bhuiyan 2007 - - Germline - - - - - DNA SEQ - - CPVT1 -? PubMed: Bhuiyan 2007 data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; - - - - - - - - 1 Johan den Dunnen
+/. - c.1.1kb deletion r.(?) p.(?) Unknown - pathogenic g.? - 1.1kb deletion - NPHS2_000000 data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; PubMed: Medeiros-Domingo 2009 - - Germline - - - - - DNA SEQ - - CPVT1 19926015-? PubMed: Medeiros-Domingo 2009 data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; - - - - - - - - 1 Johan den Dunnen
+/. - c.3.6kb deletion r.(?) p.(?) Unknown - 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 - - - - - DNA SEQ - - CPVT1 19926015-? PubMed: Medeiros-Domingo 2009 data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; - - - - - - - - 1 Johan den Dunnen
+/. - c.? r.(?) p.(?) Unknown - pathogenic g.? - - - NPHS2_000000 data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; PubMed: Creigthon 2006 - - Germline - - - - - DNA SEQ - - ? 16436635-? PubMed: Creigthon 2006 data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; - - - - - - - - 1 Johan den Dunnen
+/. - c.? r.(?) p.(?) Unknown - pathogenic g.? - - - NPHS2_000000 data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; PubMed: Marjamaa 2009 - - Germline - - - - - DNA SEQ - - CPVT1 19781797-? PubMed: Marjamaa 2009 data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; - - - - - - - - 1 Johan den Dunnen
+/. - c.? r.(?) p.(?) Unknown - pathogenic g.? - - - NPHS2_000000 data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; PubMed: Medeiros-Domingo 2009 - - Germline - - - - - DNA SEQ - - CPVT1 19926015-? PubMed: Medeiros-Domingo 2009 data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; - - - - - - - - 1 Johan den Dunnen
+/. - c.? r.(?) p.(?) Unknown - pathogenic g.? - - - NPHS2_000000 data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; PubMed: Marjamaa 2009 - - Germline - - - - - DNA SEQ - - CPVT1 19781797-? PubMed: Marjamaa 2009 data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; - - - - - - - - 1 Johan den Dunnen
+/. - c.? r.(?) p.(?) Unknown - pathogenic g.? - - - NPHS2_000000 data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; PubMed: Medeiros-Domingo 2009 - - Germline - - - - - DNA SEQ - - CPVT1 19926015-? PubMed: Medeiros-Domingo 2009 data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; - - - - - - - - 1 Johan den Dunnen
+/. - c.? r.(?) p.(?) Unknown - pathogenic g.? - - - NPHS2_000000 data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; PubMed: Marjamaa 2009 - - Germline - - - - - DNA SEQ - - ? 19781797-? PubMed: Marjamaa 2009 data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; - - - - - - - - 1 Johan den Dunnen
+/. - c.? r.(?) p.(?) Unknown - pathogenic g.? - - - NPHS2_000000 data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; PubMed: Marjamaa 2009 - - Germline - - - - - DNA SEQ - - CPVT1 19781797-? PubMed: Marjamaa 2009 data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; - - - - - - - - 1 Johan den Dunnen
+/. - c.? r.(?) p.(?) Unknown - pathogenic g.? - - - NPHS2_000000 data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; PubMed: Medeiros-Domingo 2009 - - Germline - - - - - DNA SEQ - - CPVT1 19926015-? PubMed: Medeiros-Domingo 2009 data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; - - - - - - - - 1 Johan den Dunnen
+/. - c.? r.(?) p.(?) Unknown - pathogenic g.? - - - NPHS2_000000 data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; PubMed: Nishio 2008 - - Germline - - - - - DNA SEQ - - CPVT1 17062961-? PubMed: Nishio 2008 data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; - - - - - - - - 1 Johan den Dunnen
+/. - c.? r.(?) p.(?) Unknown - pathogenic g.? - - - NPHS2_000000 data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; PubMed: Medeiros-Domingo 2009 - - Germline - - - - - DNA SEQ - - CPVT1 19926015-? PubMed: Medeiros-Domingo 2009 data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; - - - - - - - - 1 Johan den Dunnen
+/. - c.? r.(?) p.(?) Unknown - pathogenic g.? - - - NPHS2_000000 data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; PubMed: Haugaa 2010 - - Germline - - - - - DNA SEQ - - CPVT1 20106799-? PubMed: Haugaa 2010 data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; - - - - - - - - 1 Johan den Dunnen
-/. - c.? r.(?) p.(?) Unknown - benign g.? - - - NPHS2_000000 data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; PubMed: Tester 2005 - - Germline - - - - - DNA SEQ - - Healthy/Control 16188589-? PubMed: Tester 2005 data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; - - - - - - - - 1 Johan den Dunnen
+/. - c.? r.(?) p.(?) Unknown - pathogenic g.? - - - NPHS2_000000 data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; PubMed: Marjamaa 2009 - - Germline - - - - - DNA SEQ - - Healthy/Control 19216760-? PubMed: Marjamaa 2009 data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; - - - - - - - - 1 Johan den Dunnen
+/. - c.? r.(?) p.(?) Unknown - pathogenic g.? - - - NPHS2_000000 data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; PubMed: Marjamaa 2009 - - Germline - - - - - DNA SEQ - - ? 19781797-? PubMed: Marjamaa 2009 data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; - - - - - - - - 1 Johan den Dunnen
+/. - c.? r.(?) p.(?) Unknown - pathogenic g.? - - - NPHS2_000000 data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; PubMed: Davis 2006 - - Germline - - - - - DNA SEQ - - CPVT1 19926015-? PubMed: Davis 2006 data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; - - - - - - - - 1 Johan den Dunnen
+/. - c.? r.(?) p.(?) Unknown - pathogenic g.? - - - NPHS2_000000 data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; PubMed: Medeiros-Domingo 2009 - - Germline - - - - - DNA SEQ - - CPVT1 19926015-? PubMed: Medeiros-Domingo 2009 data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; - - - - - - - - 1 Johan den Dunnen
+/. - c.? r.(?) p.(?) Unknown - pathogenic g.? - - - NPHS2_000000 data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; PubMed: Postma 2005 - - Germline - - - - - DNA SEQ - - CPVT1 16272262-? PubMed: Postma 2005 data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; - - - - - - - - 1 Johan den Dunnen
+/. - c.? r.(?) p.(?) Unknown - pathogenic g.? - - - NPHS2_000000 data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; PubMed: Hasdemir C 2008 - - Germline - - - - - DNA SEQ - - CPVT1 18849218-? PubMed: Hasdemir C 2008 data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; - - - - - - - - 1 Johan den Dunnen
+/. - c.? r.(?) p.(?) Unknown - pathogenic g.? - - - NPHS2_000000 data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; PubMed: Postma 2005 - - Germline - - - - - DNA SEQ - - CPVT1 16272262-? PubMed: Postma 2005 data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; - - - - - - - - 1 Johan den Dunnen
+/. - c.? r.(?) p.(?) Unknown - pathogenic g.? - - - NPHS2_000000 data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; PubMed: Berge 2008 - - Germline - - - - - DNA SEQ - - CPVT1 18752142-? PubMed: Berge 2008 data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; - - - - - - - - 1 Johan den Dunnen
+/. - c.? r.(?) p.(?) Unknown - pathogenic g.? - - - NPHS2_000000 data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; PubMed: Medeiros-Domingo 2009 - - Germline - - - - - DNA SEQ - - CPVT1 19926015-? PubMed: Medeiros-Domingo 2009 data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; - - - - - - - - 1 Johan den Dunnen
+/. - c.? r.(?) p.(?) Unknown - pathogenic g.? - - - NPHS2_000000 data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; PubMed: Beckmann 2008 - - Germline - - - - - DNA SEQ - - CPVT1 18463390-? PubMed: Beckmann 2008 data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; - - - - - - - - 1 Johan den Dunnen
+/. - c.? r.(?) p.(?) Unknown - pathogenic g.? - - - NPHS2_000000 data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; PubMed: Beery 2009 - - Germline - - - - - DNA SEQ - - CPVT1 19398417-? PubMed: Beery 2009 data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; - - - - - - - - 1 Johan den Dunnen
+/. - c.? r.(?) p.(?) Unknown - pathogenic g.? - - - NPHS2_000000 data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; PubMed: Medeiros-Domingo 2009 - - Germline - - - - - DNA SEQ - - CPVT1 19926015-? PubMed: Medeiros-Domingo 2009 data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; - - - - - - - - 1 Johan den Dunnen
+/. - c.? r.(?) p.(?) Unknown - pathogenic g.? - - - NPHS2_000000 data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; PubMed: Postma 2005 - - Germline - - - - - DNA SEQ - - CPVT1 16272262-? PubMed: Postma 2005 data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; - - - - - - - - 1 Johan den Dunnen
+/. - c.? r.(?) p.(?) Unknown - pathogenic g.? - - - NPHS2_000000 data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; PubMed: Haugaa 2010 - - Germline - - - - - DNA SEQ - - CPVT1 20106799-? PubMed: Haugaa 2010 data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; - - - - - - - - 1 Johan den Dunnen
+/. - c.? r.(?) p.(?) Unknown - pathogenic g.? - - - NPHS2_000000 data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; PubMed: Postma 2005 - - Germline - - - - - DNA SEQ - - CPVT1 16272262-? PubMed: Postma 2005 data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; - - - - - - - - 1 Johan den Dunnen
-/. - c.49-172C>T r.(=) p.(=) Unknown - benign g.237433625C>T g.237270325C>T RYR2(NM_001035.3):c.49-172C>T - RYR2_000790 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.141T>G r.(?) p.(Cys47Trp) Unknown - VUS g.237433889T>G g.237270589T>G RYR2(NM_001035.3):c.141T>G (p.C47W) - RYR2_001260 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.184C>T r.(?) p.(?) Unknown - 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 - - - - - DNA SEQ - - CPVT1 19926015-? PubMed: Medeiros-Domingo 2009 data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; - - - - - - - - 1 Johan den Dunnen
?/. - c.218T>C r.(?) p.(Leu73Pro) Unknown - VUS g.237494227T>C g.237330927T>C - - RYR2_001529 variant definitively linked to disease Fusco 2042, submitted - - Germline - - - - - DNA SEQ-NG blood - CM Fam26Pat46 Fusco 2042, submitted - F - Italy white - - - - 1 Carmela Fusco
+/. - c.230C>T r.(?) p.(?) Unknown - 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 - - - - - DNA SEQ - - CPVT1 16084945-? PubMed: d'Amati 2005 data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; - - - - - - - - 1 Johan den Dunnen
+/. - c.230C>T r.(?) p.(?) Unknown - 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 - - - - - DNA SEQ - - CPVT1 19926015-? PubMed: Medeiros-Domingo 2009 data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; - - - - - - - - 1 Johan den Dunnen
+/. - c.230C>T r.(?) p.(?) Unknown - 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 - - - - - DNA SEQ - - ? 16084945-? PubMed: D'Amati 2005 data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; - - - - - - - - 1 Johan den Dunnen
+/. - c.230C>T r.(?) p.(Ala77Val) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.241A>C r.(?) p.(?) Unknown - 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 - - - - - DNA SEQ - - CPVT1 19926015-? PubMed: Medeiros-Domingo 2009 data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; - - - - - - - - 1 Johan den Dunnen
+?/. - c.241A>C r.(?) p.(Met81Leu) Unknown - likely pathogenic g.237494250A>C - RYR2(NM_001035.3):c.241A>C (p.M81L) - RYR2_000773 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.273+3A>G r.spl? p.? Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.273+9C>T r.(=) p.(=) Unknown - benign g.237494291C>T g.237330991C>T RYR2(NM_001035.3):c.273+9C>T - RYR2_000792 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.281A>T r.(?) p.(Asp94Val) Unknown - VUS g.237519272A>T g.237355972A>T - - RYR2_001112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.294+7_294+8dup r.(=) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.309+1_309+5del r.spl? p.? Unknown - VUS g.237527673_237527677del g.237364373_237364377del RYR2(NM_001035.2):c.307_309+2delAAGGT - RYR2_001261 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.309+7C>T r.(=) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.309+20A>C r.(=) p.(=) Unknown - benign g.237527692A>C - RYR2(NM_001035.3):c.309+20A>C - RYR2_001490 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.310-23_310-21del r.(=) p.(=) Unknown - benign g.237532811_237532813del g.237369511_237369513del RYR2(NM_001035.3):c.310-23_310-21delCCT - RYR2_000794 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.310-23_310-21del r.(=) p.(=) Unknown - likely benign g.237532811_237532813del - RYR2(NM_001035.3):c.310-23_310-21delCCT - RYR2_000794 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.322G>A r.(?) p.(Gly108Ser) Unknown - likely benign g.237532846G>A g.237369546G>A - - RYR2_001262 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.365G>A r.(?) p.(Arg122His) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.371C>T r.(?) p.(Ser124Phe) Unknown - VUS g.237532895C>T - - - RYR2_001509 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.375T>C r.(?) p.(Tyr125=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.385-9A>G r.(=) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.463+3A>G r.spl? p.? Unknown - likely benign g.237538098A>G g.237374798A>G RYR2(NM_001035.3):c.463+3A>G - RYR2_000796 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.463+18C>T r.(=) p.(=) Unknown - benign g.237538113C>T - RYR2(NM_001035.3):c.463+18C>T - RYR2_001460 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.464-8A>C r.(=) p.(=) Unknown - benign g.237540615A>C g.237377315A>C RYR2(NM_001035.3):c.464-8A>C - RYR2_000797 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.464-8A>C r.(=) p.(=) Unknown - benign g.237540615A>C g.237377315A>C RYR2(NM_001035.3):c.464-8A>C - RYR2_000797 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.464-8A>T r.(=) p.(=) Unknown - benign g.237540615A>T g.237377315A>T RYR2(NM_001035.3):c.464-8A>T - RYR2_000798 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.464-8A>T r.(=) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.473G>A r.(?) p.(Cys158Tyr) Unknown - VUS g.237540632G>A g.237377332G>A RYR2(NM_001035.3):c.473G>A (p.C158Y) - RYR2_000799 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.473G>A r.(?) p.(Cys158Tyr) Unknown - VUS g.237540632G>A g.237377332G>A RYR2(NM_001035.3):c.473G>A (p.C158Y) - RYR2_000799 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.490C>T r.(?) p.(?) Unknown - 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 - - - - - DNA SEQ - - ? 15466642-? PubMed: Choi 2004 data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; - - - - - - - - 1 Johan den Dunnen
+/. - c.490C>T r.(?) p.(?) Unknown - 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 - - - - - DNA SEQ - - ? 16818210-? PubMed: Tester 2006 data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; - - - - - - - - 1 Johan den Dunnen
+/. - c.493C>T r.(?) p.(?) Unknown - 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 - - - - - DNA SEQ - - CPVT1 15466642-? PubMed: Choi 2004 data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; - - - - - - - - 1 Johan den Dunnen
+/. - c.493C>T r.(?) p.(?) Unknown - 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 - - - - - DNA SEQ - - CPVT1 19926015-? PubMed: Medeiros-Domingo 2009 data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; - - - - - - - - 1 Johan den Dunnen
+/. - c.506G>A r.(?) p.(?) Unknown - 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 - - - - - DNA SEQ - - CPVT1 16517285-? PubMed: Hsueh 2006 data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; - - - - - - - - 1 Johan den Dunnen
+/. - c.506G>A r.(?) p.(?) Unknown - 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 - - - - - DNA SEQ - - CPVT1 19926015-? PubMed: Medeiros-Domingo 2009 data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; - - - - - - - - 1 Johan den Dunnen
+/. - c.506G>A r.(?) p.(?) Unknown - 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 - - - - - DNA SEQ - - CPVT1 16517285-? PubMed: Hsueh 2006 data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; - - - - - - - - 1 Johan den Dunnen
+?/. - c.506G>A r.(?) p.(Arg169Gln) Parent #1 - 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 - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
+/. - c.527G>A r.(?) p.(?) Unknown - 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 - - - - - DNA SEQ - - ? 11159936-? PubMed: Tiso 2001 data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; - - - - - - - - 1 Johan den Dunnen
+/. - c.527G>A r.(?) p.(?) Unknown - 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 - - - - - DNA SEQ - - ? 16188589-? PubMed: Tester 2005 data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; - - - - - - - - 1 Johan den Dunnen
+/. - c.527G>A r.(?) p.(?) Unknown - 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 - - - - - DNA SEQ - - ? 20106799-? PubMed: Haugaa 2010 data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; - - - - - - - - 1 Johan den Dunnen
+/. - c.556G>A r.(?) p.(?) Unknown - 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 - - - - - DNA SEQ - - CPVT1 16818210-? PubMed: Tester 2006 data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; - - - - - - - - 1 Johan den Dunnen
+/. - c.567A>T r.(?) p.(?) Unknown - 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 - - - - - DNA SEQ - - CPVT1 19926015-? PubMed: Davis 2006 data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; - - - - - - - - 1 Johan den Dunnen
+/. - c.567A>T r.(?) p.(?) Unknown - 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 - - - - - DNA SEQ - - CPVT1 19926015-? PubMed: Medeiros-Domingo 2009 data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; - - - - - - - - 1 Johan den Dunnen
+/. - c.567A>T r.(?) p.(?) Unknown - 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 - - - - - DNA SEQ - - CPVT1 19926015-? PubMed: Jones 2010 data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; - - - - - - - - 1 Johan den Dunnen
+?/. - c.569G>C r.(?) p.(Arg190Thr) Unknown - likely pathogenic g.237540728G>C - - - RYR2_001579 - - - - Unknown - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.576+7G>C r.(=) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.576+7G>C r.(=) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.576+7G>C r.(=) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.576+7G>C r.(=) p.(=) Unknown - likely benign g.237540742G>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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.577-14G>A r.(=) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.577-14G>A r.(=) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.577-5_577-4insTT r.spl? p.? Unknown - likely benign g.237550576_237550577insTT g.237387276_237387277insTT - - RYR2_001264 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.577-4_577-2delinsTTATG r.spl? p.? Unknown - VUS g.237550577_237550579delinsTTATG g.237387277_237387279delinsTTATG - - RYR2_001265 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.577-3C>T r.spl? p.? Unknown - likely benign g.237550578C>T g.237387278C>T - - RYR2_001266 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.577-2A>G r.spl? p.? Unknown - VUS g.237550579A>G g.237387279A>G - - RYR2_001267 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.615C>T r.(?) p.(=) Unknown - likely benign g.237550619C>T - RYR2(NM_001035.3):c.615C>T (p.A205=) - RYR2_001559 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.639C>T r.(?) p.(Ser213=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.649A>G r.(?) p.(Ile217Val) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.649A>G r.(?) p.(Ile217Val) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.649A>G r.(?) p.(Ile217Val) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.651C>T r.(?) p.(Ile217=) Unknown - likely benign g.237550655C>T g.237387355C>T RYR2(NM_001035.3):c.651C>T (p.I217=) - RYR2_000802 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.676+13_676+17del r.(=) p.(=) Unknown - benign g.237550693_237550697del - RYR2(NM_001035.3):c.676+13_676+17delCTTCA - RYR2_001483 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.676+18A>G r.(=) p.(=) Unknown - benign g.237550698A>G - RYR2(NM_001035.3):c.676+18A>G - RYR2_001429 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.677-11T>A r.(=) p.(=) Unknown - benign g.237551376T>A g.237388076T>A RYR2(NM_001035.3):c.677-11T>A - RYR2_000803 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.684C>T r.(?) p.(=) Unknown - likely benign g.237551394C>T - RYR2(NM_001035.3):c.684C>T (p.L228=) - RYR2_001510 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.688G>A r.(?) p.(Gly230Ser) Unknown - VUS g.237551398G>A - RYR2(NM_001035.3):c.688G>A (p.G230S) - RYR2_001496 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.689G>A r.(?) p.(Gly230Asp) Unknown - likely pathogenic g.237551399G>A g.237388099G>A RYR2(NM_001035.3):c.689G>A (p.G230D) - RYR2_000804 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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