Unique variants in the RYR1 gene

This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages
Information The variants shown are described using the NM_000540.2 transcript reference sequence.

924 entries on 10 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 1 c.-108T>C r.(?) p.(=) - benign g.38924362T>C g.38433722T>C g.43616202C>T - RYR1_000039 5'UTR, VKGL data sharing initiative Nederland PubMed: Robinson 2006 - rs4632259 CLASSIFICATION record, Germline - - - - - Johan den Dunnen, VKGL-NL_Nijmegen
?/. 2 ? c.? r.0 p.0? - VUS g.? - - - RYR1_000282 - PubMed: Zhou 2006 - - Germline - - - - - Jorge Oliveira
+/. 1 1 c.35_37delinsCG r.35_37delinscg p.Phe12Serfs*106 - pathogenic g.38924504_38924506delinsCG g.38433864_38433866delinsCG 34del, 37C>G - RYR1_000323 low expression at mRNA level PubMed: Monnier 2008 - - Germline - - - - - Jorge Oliveira
+/. 2 1 c.38T>G r.(?) p.(Leu13Arg) - pathogenic g.38924507T>G g.38433867T>G - - RYR1_000134 VKGL data sharing initiative Nederland Ibarra Moreno 2005, PubMed: Robinson 2006, PubMed: Ibarra 2006 - - CLASSIFICATION record, Germline - - - - - Johan den Dunnen, VKGL-NL_Nijmegen
-/. 1 1i c.45+300T>C r.(=) p.(=) - benign g.38924814T>C g.38434174T>C g.43616654C>T - RYR1_000330 - PubMed: Robinson 2006 - rs919781 Germline - - - - - Johan den Dunnen
+?/. 1 - c.46-10G>A r.(=) p.(=) - likely pathogenic g.38931375G>A - RYR1(NM_000540.2):c.46-10G>A (p.(=)) - RYR1_001103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 1 2 c.51_53del r.(?) p.(Asp17del) - pathogenic g.38931390_38931392del g.38440750_38440752del 51_53delTGA - RYR1_000254 - PubMed: Ibarra 2006 - - Germline - - - - - Johan den Dunnen
?/. 1 2 c.94C>T r.(?) p.(Leu32Phe) - VUS g.38931433C>T g.38440793C>T - - RYR1_000422 - - - - Germline - - - - - Tom Winder
+/. 1 2 c.97A>G r.(?) p.(Lys33Glu) - pathogenic g.38931436A>G g.38440796A>G A97G - RYR1_000300 Conserved residue; not in 200 normal controls PubMed: D'Arcy 2008 - - De novo - - - - - Jorge Oliveira
+/. 6 2 c.(103T>C?), c.103T>C r.(?) p.(Cys35Arg), p.Cys35Arg ACMG NA, pathogenic g.38931442T>C, g.? g.38440802T>C - - RYR1_000000, RYR1_000027 ACMG PS4_M, PM1, PP1_St, PP3_M, 1 more item European MH Group genetic testing guidelines May 2005, Lynch (1997), Monnier (2005), 2 more items - - CLASSIFICATION record, Germline, In vitro (cloned) - - - - - Johan den Dunnen, Jorge Oliveira
+?/. 1 - c.122T>C r.(?) p.(Phe41Ser) ACMG likely pathogenic (recessive) g.38931461T>C g.38440821T>C - - RYR1_001079 ACMG PM2, PM3, PP3, PP5 PubMed: Natera-de Benito 2021 - - Germline - - - - - Johan den Dunnen
+/., +?/. 2 2 c.130C>T r.(?) p.(Arg44Cys) ACMG likely pathogenic, pathogenic g.38931469C>T g.38440829C>T - - RYR1_000213 ACMG PS3_M, PS4_M, PM1, PP3_M Journal: Johnston 2020, PubMed: Tammaro 2003 - - CLASSIFICATION record, Germline - - - - - Johan den Dunnen
+/. 2 2 c.131G>A r.(?), r.131g>a p.(Arg44His), p.Arg44His - pathogenic g.38931470G>A g.38440830G>A - - RYR1_000076 - PubMed: Galli 2006, PubMed: Robinson 2006 - - Germline - - - - - Johan den Dunnen, Jorge Oliveira
?/. 1 - c.143T>C r.(?) p.(Leu48Pro) - VUS g.38931482T>C g.38440842T>C - - RYR1_000713 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/., ?/. 2 2 c.152C>A r.(?) p.(Thr51Asn) ACMG likely pathogenic, VUS g.38931491C>A g.38440851C>A - - RYR1_000309 ACMG PM1, not in 100 controls Journal: Johnston 2020, PubMed: Gillies 2008 - - CLASSIFICATION record, Germline - - - - - Johan den Dunnen, Jorge Oliveira
-/. 1 2i c.165+74G>C r.(=) p.(=) - benign g.38931578G>C g.38440938G>C g.43623418C>G - RYR1_000332 - PubMed: Robinson 2006 - rs2304145 Germline - 0.03 - - - Johan den Dunnen
-?/. 1 - c.166-19C>T r.(=) p.(=) - likely benign g.38932970C>T g.38442330C>T RYR1(NM_000540.2):c.166-19C>T (p.(=)) - RYR1_000611 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.177C>T r.(?) p.(Pro59=) - likely benign g.38933000C>T g.38442360C>T RYR1(NM_000540.2):c.177C>T (p.P59=) - RYR1_000612 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/., +?/. 3 3 c.178G>A r.(?), r.178g>a p.(Asp60Asn), p.Asp60Asn - likely pathogenic, pathogenic g.38933001G>A g.38442361G>A - - RYR1_000077 - PubMed: Robinson 2006, PubMed: Wu 2006 - - Germline - - - - - Johan den Dunnen, Tom Winder, Jorge Oliveira
+/. 1 3 c.190T>C r.190u>c p.Cys64Arg - pathogenic g.38933013T>C g.38442373T>C - - RYR1_000395 not in 200 control chromosomes PubMed: Kraeva 2011 - - Germline - 0/200 BtsCI+ - - Natalia Kraeva
+/. 4 3 c.212C>A r.(?), r.212c>a p.(Ser71Tyr), p.Ser71Tyr - pathogenic g.38933035C>A g.38442395C>A - - RYR1_000265 - PubMed: Zhou 2006, PubMed: Zhou 2007, PubMed: Galli 2006 - - Germline - - - - - Jorge Oliveira
-/. 1 - c.216G>T r.(?) p.(Leu72=) - benign g.38933039G>T g.38442399G>T - - RYR1_000714 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.243G>A r.(?) p.(Leu81=) - likely benign g.38933066G>A - RYR1(NM_000540.2):c.243G>A (p.(=)) - RYR1_001104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/., ?/. 2 3 c.251C>T r.(?) p.(Thr84Met) - pathogenic, VUS g.38933074C>T g.38442434C>T RYR1(NM_000540.2):c.251C>T (p.(Thr84Met)) - RYR1_000610 VKGL data sharing initiative Nederland - - - CLASSIFICATION record, Germline - - - - - VKGL-NL_Leiden, Toshimichi Yasuda
+/. 1 3i c.270+2T>C r.spl p.? - pathogenic (recessive) g.38933095T>C g.38442455T>C - - RYR1_000441 Muscle RNA seq studies pending PubMed: O'Grady 2016 - - Germline yes - - - - Sandra Cooper
-?/. 1 - c.270+10C>T r.(=) p.(=) - likely benign g.38933103C>T g.38442463C>T RYR1(NM_000540.2):c.270+10C>T - RYR1_000941 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 2i c.270+27G>A r.(=) p.(=) - benign g.38933120G>A g.38442480G>A g.43624690A>G - RYR1_000329 - PubMed: Robinson 2006 - rs3745843 Germline - - - - - Johan den Dunnen
+/., +?/. 7 4 c.325C>T r.(?), r.325c>u p.(Arg109Trp), p.Arg109Trp ACMG likely pathogenic, pathogenic, pathogenic (recessive) g.38934252C>T g.38443612C>T - - RYR1_000280 ACMG PM2, PM3, PP3, PP5, combination of variants not reported, VKGL data sharing initiative Nederland, 1 more item PubMed: Jungbluth 2005; PubMed: Zhou 2006, PubMed: Natera-de Benito 2021, PubMed: Topf 2020, 1 more item - - CLASSIFICATION record, Germline - 2/1001 cases - - - Johan den Dunnen, Jorge Oliveira, Osorio Abath Neto, VKGL-NL_Nijmegen
?/. 1 - c.329A>G r.(?) p.(His110Arg) - VUS g.38934256A>G g.38443616A>G - - RYR1_000715 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/., ?/. 2 - c.418G>A r.(?) p.(Ala140Thr) - likely benign, VUS g.38934430G>A g.38443790G>A RYR1(NM_000540.2):c.418G>A (p.A140T) - RYR1_000614 2 heterozygous, no homozygous; Clinindb (India), VKGL data sharing initiative Nederland PubMed: Narang 2020, Journal: Narang 2020 - rs142474192 CLASSIFICATION record, Germline - 2/2793 individuals - - - VKGL-NL_Rotterdam, Mohammed Faruq
+/. 1 - c.424+2T>C r.spl? p.? - pathogenic g.38934438T>C g.38443798T>C - - RYR1_000716 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.425-19A>G r.(=) p.(=) - likely benign g.38934770A>G - RYR1(NM_000540.2):c.425-19A>G (p.(=)) - RYR1_001105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 1 6 c.463C>A r.(?) p.(Gln155Lys) - pathogenic g.38934827C>A g.38444187C>A - - RYR1_000117 - Ibarra Moreno 2005, PubMed: Robinson 2006, PubMed: Ibarra 2006 - - Germline - - - - - Johan den Dunnen
+/. 2 6 c.467G>A r.(?) p.(Arg156Lys) - pathogenic g.38934831G>A g.38444191G>A - - RYR1_000147 - Tegazzin 2005, PubMed: Robinson 2006, PubMed: Galli 2006 - - Germline - - - - - Johan den Dunnen, Jorge Oliveira
+/. 3 6 c.479A>G r.(?), r.479a>g p.(Glu160Gly), p.Glu160Gly - pathogenic g.38934843A>G g.38444203A>G - - RYR1_000078 - Shepherd (2004), PubMed: Duarte 2011, PubMed: Robinson 2006 - - Germline - - - - - Johan den Dunnen, Jorge Oliveira
+/., +?/., -?/. 25 6 c.487C>T r.(?), r.487c>u p.(Arg163Cys), p.Arg163Cys ACMG likely benign, likely pathogenic, NA, pathogenic g.38934851C>T g.38444211C>T - - RYR1_000026 ACMG PS3, PS4, PM1, PM5, PP1_St, PP3_M, 1 more item Barone (1999), European MH Group genetic testing guidelines May 2005, Fagerlund (1994), OMIM:var0004, 21 more items - - CLASSIFICATION record, Germline, In vitro (cloned) - - - - - Johan den Dunnen, Jorge Oliveira, Natalia Kraeva
+/., +?/. 4 6 c.488G>T r.(?), r.488g>u p.(Arg163Leu), p.Arg163Leu ACMG likely pathogenic, NA, pathogenic g.38934852G>T g.38444212G>T - - RYR1_000079 ACMG PS3_M, PS4_M, PM1, PP3_M, 1 more item Monnier (2005), Journal: Johnston 2020, PubMed: Robinson 2006 - - CLASSIFICATION record, Germline, In vitro (cloned) - - - - - Johan den Dunnen
+/. 1 6 c.493G>A r.(?) p.(Gly165Arg) - pathogenic g.38934857G>A g.38444217G>A - - RYR1_000184 - PubMed: Monnier 2005 - - Germline - - - - - Johan den Dunnen
+/. 2 6 c.496G>A r.(?) p.(Asp166Asn) - pathogenic g.38934860G>A g.38444220G>A - - RYR1_000185 - Monnier (2005), PubMed: Ruffert 2002; PubMed: Rueffert 2002 - - Germline - - - - - Johan den Dunnen
+/. 1 6 c.497A>G r.(?) p.(Asp166Gly) - pathogenic g.38934861A>G g.38444221A>G - - RYR1_000118 - Ibarra Moreno 2005, PubMed: Robinson 2006, PubMed: Ibarra 2006 - - Germline - - - - - Johan den Dunnen
+/. 5 6 c.529C>T r.(?), r.529c>u p.(Arg177Cys), p.Arg177Cys - pathogenic g.38934893C>T g.38444253C>T - - RYR1_000080 not in 100 controls Monnier (2005), several publications, PubMed: Gillies 2008, PubMed: Galli 2006, PubMed: Robinson 2006 - - Germline - - - - - Johan den Dunnen, Jorge Oliveira
+/. 1 6 c.533A>T r.(?) p.(Tyr178Phe) - pathogenic g.38934897A>T g.38444257A>T - - RYR1_000186 - PubMed: Monnier 2005 - - Germline - - - - - Johan den Dunnen
-/., -?/. 4 7 c.573C>T r.(?) p.(=), p.(Asp191=) - benign, likely benign g.38935259C>T g.38444619C>T 473C>T (Asp191), RYR1(NM_000540.2):c.573C>T (p.D191=, p.(Asp191=)) - RYR1_000049 VKGL data sharing initiative Nederland PubMed: Robinson 2006 - rs892054 CLASSIFICATION record, Germline - 0/100 - - - Johan den Dunnen, VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
-/. 7 7 c.594A>G r.(=), r.(?) p.(=), p.(Leu198=) - benign g.38935280A>G g.38444640A>G 594G>A (Leu198), RYR1(NM_000540.2):c.594A>G (p.L198=) - RYR1_000050 VKGL data sharing initiative Nederland from website {DBsub-Emory}, PubMed: Jeong 2008, PubMed: Robinson 2006 - rs2229139 CLASSIFICATION record, Germline, Unknown - 30/100 - - - Johan den Dunnen, Madhuri Hegde, Jorge Oliveira, Andreas Laner, VKGL-NL_Groningen, VKGL-NL_Nijmegen, VKGL-NL_AMC
?/. 1 - c.620G>T r.(?) p.(Arg207Leu) - VUS g.38935306G>T - RYR1(NM_000540.2):c.620G>T (p.R207L) - RYR1_001044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. 1 7 c.625G>A r.625g>a p.Glu209Lys - VUS g.38935311G>A g.38444671G>A - - RYR1_000407 - PubMed: Kraeva 2011 - - Germline - - - - - Natalia Kraeva
-/. 4 - c.631+39dup r.(=) p.(=) - benign g.38935356dup g.38444716dup RYR1(NM_000540.2):c.631+39dupC - RYR1_000573 VKGL data sharing initiative Nederland - - rs35018208 CLASSIFICATION record, Germline - - - - - Andreas Laner, VKGL-NL_Utrecht
-/. 2 - c.631+49C>T r.(=) p.(=) - benign g.38935366C>T g.38444726C>T - - RYR1_000978 248 heterozygous; Clinindb (India), 6 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs57132842 Germline - 248/2795 individuals, 6/2795 individuals - - - Mohammed Faruq
+?/., ?/. 3 - c.641C>T r.(?) p.(Thr214Met) ACMG VUS g.38937121C>T g.38446481C>T RYR1(NM_000540.2):c.641C>T (p.(Thr214Met), p.T214M) - RYR1_000855 ACMG PM1, PM2, PM3, VKGL data sharing initiative Nederland PubMed: Natera-de Benito 2021 - - CLASSIFICATION record, Germline - - - - - Johan den Dunnen, VKGL-NL_Leiden, VKGL-NL_Utrecht
+/. 1 8 c.644G>A r.(?) p.(Gly215Glu) - pathogenic g.38937124G>A g.38446484G>A - - RYR1_000029 - PubMed: Romero 2003 - - Germline - - - - - Johan den Dunnen
+/. 2 8 c.652G>A r.(?) p.(Val218Ile) - pathogenic g.38937132G>A g.38446492G>A - - RYR1_000225 - Ibarra Moreno 2005, PubMed: Robinson 2006, PubMed: Ibarra 2006 - - Germline - - - - - Johan den Dunnen
+/., +?/. 2 8 c.677T>A r.(?) p.(Met226Lys) - likely pathogenic, pathogenic g.38937157T>A g.38446517T>A - - RYR1_000138 not in 100 controls Levano 2005, PubMed: Robinson 2006, PubMed: Gillies 2008 - - Germline - - - - - Johan den Dunnen, Jorge Oliveira
+/. 1 8 c.680A>T r.(?) p.(Asp227Val) - pathogenic g.38937160A>T g.38446520A>T - - RYR1_000187 - PubMed: Monnier 2005 - - Germline - - - - - Johan den Dunnen
+/., +?/. 2 - c.718C>T r.(?) p.(Gln240*), p.(Gln240Ter) - likely pathogenic, pathogenic g.38937198C>T g.38446558C>T - - RYR1_000717 combination of variants not reported, VKGL data sharing initiative Nederland PubMed: Topf 2020 - - CLASSIFICATION record, Germline - 1/1001 cases - - - Johan den Dunnen, VKGL-NL_Nijmegen
?/. 1 - c.722G>A r.(?) p.(Arg241His) - VUS g.38937202G>A g.38446562G>A RYR1(NM_000540.2):c.722G>A (p.(Arg241His)) - RYR1_000856 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 1 8 c.725G>A r.(?) p.(Arg242Lys) - pathogenic g.38937205G>A g.38446565G>A - - RYR1_000607 - - - - Germline - - - - - Osorio Abath Neto
-/., -?/. 3 - c.725+6G>A r.(=) p.(=) - benign, likely benign g.38937211G>A g.38446571G>A RYR1(NM_000540.2):c.725+6G>A (, p.(=)) - RYR1_000857 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_Utrecht
+/. 8 9 c.742G>A r.(?), r.742g>a p.(Gly248Arg), p.Gly248Arg ACMG NA, pathogenic g.38937350G>A g.38446710G>A - - RYR1_000081 ACMG PS3_M, PS4, PM1, PP1, PP3_M, 1 more item European MH Group genetic testing guidelines May 2005, Gillard (1992), OMIM:var0002, Robinson (2002), 5 more items - - CLASSIFICATION record, Germline, In vitro (cloned) - - - - - Johan den Dunnen
+/. 3 9 c.742G>C r.(?) p.(Gly248Arg) ACMG pathogenic g.38937350G>C g.38446710G>C - - RYR1_000310 ACMG PS1, PS3_M, PS4_M, PM1, PP1_M, PP3_M, VKGL data sharing initiative Nederland Journal: Johnston 2020, PubMed: Gillies 2008 - - CLASSIFICATION record, Germline - - - - - Johan den Dunnen, Jorge Oliveira, VKGL-NL_Nijmegen
-?/. 1 - c.744G>C r.(?) p.(Gly248=) - likely benign g.38937352G>C g.38446712G>C - - RYR1_000719 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.766C>T r.(?) p.(Arg256Cys) - VUS g.38937374C>T g.38446734C>T - - RYR1_000720 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 2 - c.821G>C r.(?) p.(Arg274Pro) - VUS g.38939015G>C - RYR1(NM_000540.2):c.821G>C (p.R274P) - RYR1_000858 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_VUmc
-/. 1 10 c.873G>A r.(?) p.(=) - benign g.38939067G>A g.38448427G>A Ala291 - RYR1_000290 - PubMed: Robinson 2006 - rs2229140 Germline - 0/100 - - - Johan den Dunnen
-?/. 1 - c.897G>C r.(?) p.(Val299=) - likely benign g.38939091G>C g.38448451G>C RYR1(NM_000540.2):c.897G>C (p.(=)) - RYR1_000617 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.905A>G r.(?) p.(Asp302Gly) - VUS g.38939099A>G - - - RYR1_001045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.906C>T r.(?) p.(Asp302=) - likely benign g.38939100C>T g.38448460C>T - - RYR1_000721 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 10 c.947G>T r.(?) p.(Arg316Leu) - pathogenic g.38939141G>T g.38448501G>T - - RYR1_000119 - PubMed: Ibarra 2006 - - Germline - - - - - Johan den Dunnen
?/. 1 - c.957+5_957+29del r.spl? p.? - VUS g.38939156_38939180del g.38448516_38448540del RYR1(NM_000540.2):c.957+2_957+26del (p.?) - RYR1_000859 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/., +?/. 2 11 c.982C>T r.(?) p.(Arg328Trp) ACMG likely pathogenic, pathogenic g.38939313C>T g.38448673C>T C928T - RYR1_000177 ACMG PS3_M, PS4_S, PM1, PP1 Journal: Johnston 2020, PubMed: Loke 2003 - - CLASSIFICATION record, Germline - - - - - Johan den Dunnen
+/. 1 - c.1007_1008del r.(?) p.(Pro336ArgfsTer168) - pathogenic g.38939338_38939339del g.38448698_38448699del - - RYR1_000861 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 1 11 c.1014C>A r.(?) p.(=) - benign g.38939345C>A g.38448705C>A Ile338 - RYR1_000004 - PubMed: Robinson 2006 - rs8101510 Germline - 0/100 - - - Johan den Dunnen
+/. 23 11 c.(1021G>A?), c.1021G>A r.(?), r.1021g>a p.(Gly341Arg), p.Gly341Arg ACMG NA, pathogenic g.38939352G>A, g.? g.38448712G>A - - RYR1_000087 ACMG PS3_M, PS4, PM1, PP1_St, PP3_M, VKGL data sharing initiative Nederland, 1 more item Adeokun (1997), OMIM:var0006, Alestrom (1995), OMIM:var0006, Barone (1999), Fiege (2002), 13 more items - rs28933997 CLASSIFICATION record, Germline, In vitro (cloned), Unknown - - - - - Johan den Dunnen, Jorge Oliveira, Henry Rosenberg MD, VKGL-NL_Nijmegen
+/. 3 11 c.1021G>C r.(?) p.(Gly341Arg) ACMG pathogenic g.38939352G>C g.38448712G>C - - RYR1_000189 ACMG PS1, PS3_M, PS4_M, PM1, PP1_St, PP3_M Ibarra Moreno 2005, PubMed: Robinson 2006, PubMed: Ibarra 2006, Monnier (2005), Journal: Johnston 2020 - - CLASSIFICATION record, Germline - - - - - Johan den Dunnen
?/. 1 - c.1024G>A r.(?) p.(Glu342Lys) - VUS g.38939355G>A g.38448715G>A - - RYR1_000724 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 - c.1024G>T r.(?) p.(Glu342Ter) - pathogenic g.38939355G>T g.38448715G>T - - RYR1_000723 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 7 11 c.1077T>C r.(=), r.(?) p.(=), p.(Ala359=) - benign g.38939408T>C g.38448768T>C Ala359, RYR1(NM_000540.2):c.1077T>C (p.A359=) - RYR1_000038 VKGL data sharing initiative Nederland from website {DBsub-Emory}, PubMed: Jeong 2008, PubMed: Robinson 2006 - rs10406027 CLASSIFICATION record, Germline, Unknown - 15/100 - - - Johan den Dunnen, Madhuri Hegde, Jorge Oliveira, Andreas Laner, VKGL-NL_Groningen, VKGL-NL_Nijmegen, VKGL-NL_AMC
+/. 1 11 c.1100G>A r.(?) p.(Arg367Gln) - pathogenic g.38939431G>A g.38448791G>A - - RYR1_000139 - PubMed: Galli 2006 - - Germline - - - - - Jorge Oliveira
+/. 1 11 c.1100G>T r.(?) p.(Arg367Leu) - pathogenic g.38939431G>T g.38448791G>T - - RYR1_000312 - Levano 2005, PubMed: Robinson 2006 - - Germline - - - - - Johan den Dunnen
-/. 1 11 c.1116G>A r.(?) p.(=) - benign g.38939447G>A g.38448807G>A - - RYR1_000305 - PubMed: Jeong 2008 - - Germline - - - - - Jorge Oliveira
?/. 1 - c.1122+5G>A r.spl? p.? - VUS g.38939458G>A g.38448818G>A - - RYR1_000725 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 1 11i c.1122+44C>T r.(=) p.(=) - benign g.38939497C>T g.38448857C>T g.43631337C>T - RYR1_000334 - - - rs8101724 Germline - - - - - Johan den Dunnen
-/. 2 11i c.1122+52T>C r.(=) p.(=) - benign g.38939505T>C g.38448865T>C g.43631345C>T - RYR1_000333 - PubMed: Robinson 2006 - rs4476278 Germline - - - - - Johan den Dunnen, Andreas Laner
-/. 1 11i c.1122+95T>C r.(=) p.(=) - benign g.38939548T>C g.38448908T>C g.43631388C>T - RYR1_000335 - PubMed: Robinson 2006 - rs8102524 Germline - - - - - Johan den Dunnen
-/. 1 11i c.1123-11C>T r.(=) p.(=) - benign g.38942393C>T g.38451753C>T g.43634233C>T - RYR1_000331 - PubMed: Robinson 2006 - rs3745845 Germline - - - - - Johan den Dunnen
?/. 1 - c.1163C>T r.(?) p.(Ser388Leu) - VUS g.38942444C>T - RYR1(NM_000540.2):c.1163C>T (p.S388L) - RYR1_001106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. 1 - c.1171C>T r.(?) p.(Arg391Cys) - VUS g.38942452C>T g.38451812C>T - - RYR1_000726 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 2 - c.1196C>T r.(?) p.(Ala399Val) - VUS g.38942477C>T g.38451837C>T RYR1(NM_000540.2):c.1196C>T (p.A399V) - RYR1_000618 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
?/. 1 12 c.1198G>A r.(?) p.(Ala400Thr) - VUS g.38942479G>A g.38451839G>A - - RYR1_001062 - PubMed: Ganapathy 2019 - rs777016690 Germline - - - - - Johan den Dunnen
+/. 1 12 c.1201C>G r.1201c>g p.Arg401Gly - pathogenic g.38942482C>G g.38451842C>G - - RYR1_000088 - PubMed: Robinson 2006; EHMG RYR1 db - - Germline - - - - - Johan den Dunnen
+/. 10 12 c.1201C>T r.(?), r.1201c>u p.(Arg401Cys), p.Arg401Cys ACMG pathogenic g.38942482C>T g.38451842C>T RYR1(NM_000540.2):c.1201C>T (p.R401C) - RYR1_000112 ACMG PS3_M, PS4_M, PM1, PM5, PP1_M, PP3_M, not detected in 200 normal individuals, 1 more item Davis (2002), Galli (2002), several publications, Journal: Johnston 2020, PubMed: Gillies 2008, 3 more items - - CLASSIFICATION record, Germline - - - - - Johan den Dunnen, Jorge Oliveira, Osorio Abath Neto, VKGL-NL_Utrecht
+/. 3 12 c.1202G>A r.(?) p.(Arg401His) - pathogenic g.38942483G>A g.38451843G>A - - RYR1_000190 - Monnier (2005), several publications, PubMed: Ruffert 2002; PubMed: Rueffert 2002 - - Germline - - - - - Johan den Dunnen
+/. 2 12 c.1205T>C r.1205u>c p.Met402Thr - pathogenic g.38942486T>C g.38451846T>C - - RYR1_000284 not in 200 controls; monoallelic expression in skeletal muscle, 1 more item PubMed: Zhou 2006b, PubMed: Zhou 2007 - - Germline - - - - - Jorge Oliveira
+/. 2 12 c.1209C>G r.(?) p.(Ile403Met), p.Ile403Met - NA, pathogenic g.38942490C>G g.38451850C>G - - RYR1_000169 in vitro functional study shows altered ryanodine receptor function European MH Group genetic testing guidelines May 2005; EHMG RYR1 db, Quane (1993), OMIM:var0005 - - Germline, In vitro (cloned) - - - - - Johan den Dunnen
-/. 1 12 c.1218C>T r.(?) p.(=) - benign g.38942499C>T g.38451859C>T Thr406 - RYR1_000005 - PubMed: Robinson 2006 - rs3745846 Germline - 0/100 - - - Johan den Dunnen
-/. 1 - c.1245-29C>T r.(=) p.(=) - benign g.38943430C>T g.38452790C>T - - RYR1_000555 - - - rs35839245 Germline - frequency up to 0,44% - - - Andreas Laner
+/. 1 13 c.1280C>T r.(?) p.(Ser427Leu) - pathogenic g.38943494C>T g.38452854C>T - - RYR1_000252 - PubMed: Wu 2006 - - Germline - - - - - Jorge Oliveira
+/. 1 91 c.1280_1281dup r.1280_1281dup p.Ala4268Argfs*74 - pathogenic g.38943494_38943495dup g.38452854_38452855dup 1281_1282insCG - RYR1_000325 low expression at mRNA level PubMed: Monnier 2008 - - Germline - - - - - Jorge Oliveira
+?/. 1 - c.1310T>C r.(?) p.(Ile437Thr) - likely pathogenic g.38943524T>C g.38452884T>C - - RYR1_001009 combination of variants not reported PubMed: Topf 2020 - - Germline - 1/1001 cases - - - Johan den Dunnen
+/. 1 13 c.1342A>T r.(?) p.(Ile448Phe) - pathogenic g.38943556A>T g.38452916A>T - - RYR1_000580 - - - - Germline - - - - - Osorio Abath Neto
?/. 1 - c.1389G>A r.(?) p.(Lys463=) - VUS g.38943603G>A g.38452963G>A RYR1(NM_000540.2):c.1389G>A (p.(Lys463=)) - RYR1_000619 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
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