All 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.

1978 entries on 20 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.-108T>C r.(?) p.(=) - benign g.38924362T>C g.38433722T>C - - RYR1_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-/. 1 c.-108T>C r.(?) p.(=) - benign g.38924362T>C g.38433722T>C g.43616202C>T - RYR1_000039 5'UTR PubMed: Robinson 2006 - rs4632259 Germline - - - 0 - Johan den Dunnen
?/. ? c.? r.0 p.0? - VUS g.? - - - RYR1_000282 - PubMed: Zhou 2006 - - Germline - - - 0 - Jorge Oliveira
?/. ? c.? r.0 p.0? - VUS g.? - - - RYR1_000282 - PubMed: Zhou 2006 - - Germline - - - 0 - Jorge Oliveira
+/. 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 - - - 0 - Jorge Oliveira
+/. - c.38T>G r.(?) p.(Leu13Arg) - pathogenic g.38924507T>G g.38433867T>G - - RYR1_000134 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/. 1 c.38T>G r.(?) p.(Leu13Arg) - pathogenic g.38924507T>G g.38433867T>G - - RYR1_000134 - Ibarra Moreno 2005, PubMed: Robinson 2006, PubMed: Ibarra 2006 - - Germline - - - 0 - Johan den Dunnen
-/. 1i c.45+300T>C r.(=) p.(=) - benign g.38924814T>C g.38434174T>C g.43616654C>T - RYR1_000330 - PubMed: Robinson 2006 - rs919781 Germline - - - 0 - Johan den Dunnen
+?/. - 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
+/. 2 c.51_53del r.(?) p.(Asp17del) - pathogenic g.38931390_38931392del g.38440750_38440752del 51_53delTGA - RYR1_000254 - PubMed: Ibarra 2006 - - Germline - - - 0 - Johan den Dunnen
?/. 2 c.94C>T r.(?) p.(Leu32Phe) - VUS g.38931433C>T g.38440793C>T - - RYR1_000422 - - - - Germline - - - 0 - Tom Winder
+/. 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 - - - 0 - Jorge Oliveira
+/. 2 c.(103T>C?) r.(?) p.(Cys35Arg) - pathogenic g.? - - - RYR1_000000 - PubMed: Heytens 2007 - - Germline - - - 0 - Jorge Oliveira
+/. 2 c.103T>C r.(?) p.(Cys35Arg) - pathogenic g.38931442T>C g.38440802T>C - - RYR1_000027 - Lynch (1997) - - Germline - - - 0 - Johan den Dunnen
+/. 2 c.103T>C r.(?) p.(Cys35Arg) - pathogenic g.38931442T>C g.38440802T>C - - RYR1_000027 - Lynch (1997) - - Germline - - - 0 - Johan den Dunnen
+/. 2 c.103T>C r.(?) p.(Cys35Arg) - pathogenic g.38931442T>C g.38440802T>C - - RYR1_000027 - Monnier (2005) - - Germline - - - 0 - Johan den Dunnen
+/. 2 c.103T>C r.(?) p.Cys35Arg - NA g.38931442T>C g.38440802T>C - - RYR1_000027 in vitro functional study shows altered ryanodine receptor function; EMHG RYR1 db (http://www.emhg.org/genetics/mutations-in-ryr1/) European MH Group genetic testing guidelines May 2005 - - In vitro (cloned) - - - 0 - Johan den Dunnen
+/. - c.103T>C r.(?) p.(Cys35Arg) ACMG pathogenic g.38931442T>C g.38440802T>C - - RYR1_000027 ACMG PS4_M, PM1, PP1_St, PP3_M Journal: Johnston 2020 - - CLASSIFICATION record - - - 0 - Johan den Dunnen
+?/. - 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 - - - 0 - Johan den Dunnen
+/. 2 c.130C>T r.(?) p.(Arg44Cys) - pathogenic g.38931469C>T g.38440829C>T - - RYR1_000213 - PubMed: Tammaro 2003 - - Germline - - - 0 - Johan den Dunnen
+?/. - c.130C>T r.(?) p.(Arg44Cys) ACMG likely pathogenic g.38931469C>T g.38440829C>T - - RYR1_000213 ACMG PS3_M, PS4_M, PM1, PP3_M Journal: Johnston 2020 - - CLASSIFICATION record - - - 0 - Johan den Dunnen
+/. 2 c.131G>A r.131g>a p.Arg44His - pathogenic g.38931470G>A g.38440830G>A - - RYR1_000076 - PubMed: Robinson 2006 - - Germline - - - 0 - Johan den Dunnen
+/. 2 c.131G>A r.(?) p.(Arg44His) - pathogenic g.38931470G>A g.38440830G>A - - RYR1_000076 - PubMed: Galli 2006 - - Germline - - - 0 - Jorge Oliveira
?/. - c.143T>C r.(?) p.(Leu48Pro) - VUS g.38931482T>C g.38440842T>C - - RYR1_000713 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+?/. 2 c.152C>A r.(?) p.(Thr51Asn) - likely pathogenic g.38931491C>A g.38440851C>A - - RYR1_000309 not in 100 controls PubMed: Gillies 2008 - - Germline - - - 0 - Jorge Oliveira
?/. - c.152C>A r.(?) p.(Thr51Asn) ACMG VUS g.38931491C>A g.38440851C>A - - RYR1_000309 ACMG PM1 Journal: Johnston 2020 - - CLASSIFICATION record - - - 0 - Johan den Dunnen
-/. 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 - 0 - Johan den Dunnen
-?/. - 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 - - - 0 - VKGL-NL_Leiden
-?/. - 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 - - - 0 - VKGL-NL_Rotterdam
+/. 3 c.178G>A r.178g>a p.Asp60Asn - pathogenic g.38933001G>A g.38442361G>A - - RYR1_000077 - PubMed: Robinson 2006 - - Germline - - - 0 - Johan den Dunnen
+/. 3 c.178G>A r.(?) p.(Asp60Asn) - pathogenic g.38933001G>A g.38442361G>A - - RYR1_000077 - PubMed: Wu 2006 - - Germline - - - 0 - Jorge Oliveira
+?/. 3 c.178G>A r.(?) p.(Asp60Asn) - likely pathogenic g.38933001G>A g.38442361G>A - - RYR1_000077 - - - - Germline - - - 0 - Tom Winder
+/. 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+ 0 - Natalia Kraeva
+/. 3 c.212C>A r.(?) p.(Ser71Tyr) - pathogenic g.38933035C>A g.38442395C>A - - RYR1_000265 - PubMed: Galli 2006 - - Germline - - - 0 - Jorge Oliveira
+/. 3 c.212C>A r.(?) p.(Ser71Tyr) - pathogenic g.38933035C>A g.38442395C>A - - RYR1_000265 - PubMed: Galli 2006 - - Germline - - - 0 - Jorge Oliveira
+/. 3 c.212C>A r.212c>a p.Ser71Tyr - pathogenic g.38933035C>A g.38442395C>A - - RYR1_000265 - PubMed: Zhou 2006 - - Germline - - - 0 - Jorge Oliveira
+/. 3 c.212C>A r.212c>a p.Ser71Tyr - pathogenic g.38933035C>A g.38442395C>A - - RYR1_000265 - PubMed: Zhou 2007 - - Germline - - - 0 - Jorge Oliveira
-/. - c.216G>T r.(?) p.(Leu72=) - benign g.38933039G>T g.38442399G>T - - RYR1_000714 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-?/. - 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
+/. 3 c.251C>T r.(?) p.(Thr84Met) - pathogenic g.38933074C>T g.38442434C>T - - RYR1_000610 - - - - Germline - - - 0 - Toshimichi Yasuda
?/. - c.251C>T r.(?) p.(Thr84Met) - 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 - - - 0 - VKGL-NL_Leiden
+/. 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 - - 0 - Sandra Cooper
-?/. - 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
-/. 2i c.270+27G>A r.(=) p.(=) - benign g.38933120G>A g.38442480G>A g.43624690A>G - RYR1_000329 - PubMed: Robinson 2006 - rs3745843 Germline - - - 0 - Johan den Dunnen
+/. 4 c.325C>T r.(?) p.(Arg109Trp) - pathogenic g.38934252C>T g.38443612C>T - - RYR1_000280 - - - - Germline - - - 0 - Osorio Abath Neto
+?/. - c.325C>T r.(?) p.(Arg109Trp) - likely pathogenic g.38934252C>T g.38443612C>T - - RYR1_000280 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/. 4 c.325C>T r.325c>u p.Arg109Trp - pathogenic g.38934252C>T g.38443612C>T - - RYR1_000280 - PubMed: Jungbluth 2005; PubMed: Zhou 2006 - - Germline - - - 0 - Jorge Oliveira
+/. 4 c.325C>T r.325c>u p.Arg109Trp - pathogenic g.38934252C>T g.38443612C>T - - RYR1_000280 not in 200 controls; conserved residue; monoallelic expression in skeletal muscle (epigenetic allele silencing) PubMed: Jungbluth 2005; PubMed: Zhou 2006; PubMed: Zhou 2006b; PubMed: Zhou 2007 - - Germline - - - 0 - Jorge Oliveira
+?/. - c.325C>T r.(?) p.(Arg109Trp) - likely pathogenic g.38934252C>T g.38443612C>T - - RYR1_000280 combination of variants not reported PubMed: Topf 2020 - - Germline - 2/1001 cases - 0 - Johan den Dunnen
+/. - c.325C>T r.(?) p.(Arg109Trp) ACMG pathogenic (recessive) g.38934252C>T g.38443612C>T - - RYR1_000280 ACMG PM2, PM3, PP3, PP5 PubMed: Natera-de Benito 2021 - - Germline - - - 0 - Johan den Dunnen
+/. - c.325C>T r.(?) p.(Arg109Trp) ACMG pathogenic (recessive) g.38934252C>T g.38443612C>T - - RYR1_000280 ACMG PM2, PM3, PP3, PP5 PubMed: Natera-de Benito 2021 - - Germline - - - 0 - Johan den Dunnen
?/. - c.329A>G r.(?) p.(His110Arg) - VUS g.38934256A>G g.38443616A>G - - RYR1_000715 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-?/. - c.418G>A r.(?) p.(Ala140Thr) - likely benign g.38934430G>A g.38443790G>A RYR1(NM_000540.2):c.418G>A (p.A140T) - RYR1_000614 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.418G>A r.(?) p.(Ala140Thr) - VUS g.38934430G>A g.38443790G>A - - RYR1_000614 2 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs142474192 Germline - 2/2793 individuals - 0 - Mohammed Faruq
+/. - c.424+2T>C r.spl? p.? - pathogenic g.38934438T>C g.38443798T>C - - RYR1_000716 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-?/. - 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
+/. 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 - - - 0 - Johan den Dunnen
+/. 6 c.467G>A r.(?) p.(Arg156Lys) - pathogenic g.38934831G>A g.38444191G>A - - RYR1_000147 - Tegazzin 2005, PubMed: Robinson 2006 - - Germline - - - 0 - Johan den Dunnen
+/. 6 c.467G>A r.(?) p.(Arg156Lys) - pathogenic g.38934831G>A g.38444191G>A - - RYR1_000147 - PubMed: Galli 2006 - - Germline - - - 0 - Jorge Oliveira
+/. 6 c.479A>G r.479a>g p.Glu160Gly - pathogenic g.38934843A>G g.38444203A>G - - RYR1_000078 - PubMed: Robinson 2006 - - Germline - - - 0 - Johan den Dunnen
+/. 6 c.479A>G r.(?) p.(Glu160Gly) - pathogenic g.38934843A>G g.38444203A>G - - RYR1_000078 - Shepherd (2004) - - Germline - - - 0 - Johan den Dunnen
+/. 6 c.479A>G r.(?) p.(Glu160Gly) - pathogenic g.38934843A>G g.38444203A>G - - RYR1_000078 - PubMed: Duarte 2011 - - Germline - - - 0 - Jorge Oliveira
+/. 6 c.487C>T r.(?) p.(Arg163Cys) - pathogenic g.38934851C>T g.38444211C>T - - RYR1_000026 - PubMed: Monnier 2002 - - Germline - - - 0 - Johan den Dunnen
+/. 6 c.487C>T r.487c>u p.Arg163Cys - pathogenic g.38934851C>T g.38444211C>T - - RYR1_000026 - PubMed: Robinson 2006 - - Germline - - - 0 - Johan den Dunnen
+/. 6 c.487C>T r.(?) p.(Arg163Cys) - pathogenic g.38934851C>T g.38444211C>T - - RYR1_000026 - Barone (1999) - - Germline - - - 0 - Johan den Dunnen
+/. 6 c.487C>T r.(?) p.(Arg163Cys) - pathogenic g.38934851C>T g.38444211C>T - - RYR1_000026 - Fagerlund (1994), OMIM:var0004 - - Germline - - - 0 - Johan den Dunnen
+/. 6 c.487C>T r.(?) p.(Arg163Cys) - pathogenic g.38934851C>T g.38444211C>T - - RYR1_000026 - Fiege (2002) - - Germline - - - 0 - Johan den Dunnen
+/. 6 c.487C>T r.(?) p.(Arg163Cys) - pathogenic g.38934851C>T g.38444211C>T - - RYR1_000026 - Fletcher (1995) - - Germline - - - 0 - Johan den Dunnen
+/. 6 c.487C>T r.(?) p.(Arg163Cys) - pathogenic g.38934851C>T g.38444211C>T - - RYR1_000026 - Monnier (2005) - - Germline - - - 0 - Johan den Dunnen
-?/. 6 c.487C>T r.487c>u p.Arg163Cys - likely benign g.38934851C>T g.38444211C>T - - RYR1_000026 - PubMed: O'Brien 1995, OMIM:var0004 - - Germline - - - 0 - Johan den Dunnen
+/. 6 c.487C>T r.(?) p.(Arg163Cys) - pathogenic g.38934851C>T g.38444211C>T - - RYR1_000026 - Quane (1993), OMIM:var0004 - - Germline - - - 0 - Johan den Dunnen
+/. 6 c.487C>T r.(?) p.(Arg163Cys) - pathogenic g.38934851C>T g.38444211C>T - - RYR1_000026 - Quane (1994a) - - Germline - - - 0 - Johan den Dunnen
+/. 6 c.487C>T r.(?) p.(Arg163Cys) - pathogenic g.38934851C>T g.38444211C>T - - RYR1_000026 - Robinson (2002) - - Germline - - - 0 - Johan den Dunnen
+/. 6 c.487C>T r.(?) p.(Arg163Cys) - pathogenic g.38934851C>T g.38444211C>T - - RYR1_000026 - PubMed: Ruffert 2002; PubMed: Rueffert 2002 - - Germline - - - 0 - Johan den Dunnen
+/. 6 c.487C>T r.(?) p.(Arg163Cys) - pathogenic g.38934851C>T g.38444211C>T - - RYR1_000026 - Sambuughin (2001) - - Germline - - - 0 - Johan den Dunnen
+/. 6 c.487C>T r.(?) p.(Arg163Cys) - pathogenic g.38934851C>T g.38444211C>T - - RYR1_000026 - Sambuughin (2005) - - Germline - - - 0 - Johan den Dunnen
+/. 6 c.487C>T r.(?) p.(Arg163Cys) - pathogenic g.38934851C>T g.38444211C>T - - RYR1_000026 - Sei (2004) - - Germline - - - 0 - Johan den Dunnen
+/. 6 c.487C>T r.(?) p.(Arg163Cys) - pathogenic g.38934851C>T g.38444211C>T - - RYR1_000026 - Tobin (2001), OMIM:var0004 - - Germline - - - 0 - Johan den Dunnen
+/. 6 c.487C>T r.(?) p.(Arg163Cys) - pathogenic g.38934851C>T g.38444211C>T - - RYR1_000026 - several publications - - Germline - - - 0 - Johan den Dunnen
+/. 6 c.487C>T r.(?) p.(Arg163Cys) - pathogenic g.38934851C>T g.38444211C>T - - RYR1_000026 - Ibarra Moreno 2005, PubMed: Robinson 2006, PubMed: Ibarra 2006 - - Germline - - - 0 - Johan den Dunnen
+/. 6 c.487C>T r.(?) p.(Arg163Cys) - pathogenic g.38934851C>T g.38444211C>T - - RYR1_000026 - PubMed: Galli 2006 - - Germline - - - 0 - Jorge Oliveira
+/. 6 c.487C>T r.(?) p.(Arg163Cys) - pathogenic g.38934851C>T g.38444211C>T - - RYR1_000026 - PubMed: Gillies 2008 - - Germline - - - 0 - Jorge Oliveira
+/. 6 c.487C>T r.(?) p.(Arg163Cys) - pathogenic g.38934851C>T g.38444211C>T - - RYR1_000026 - PubMed: Gillies 2008 - - Germline - - - 0 - Jorge Oliveira
+/. 6 c.487C>T r.487c>u p.Arg163Cys - pathogenic g.38934851C>T g.38444211C>T - - RYR1_000026 - PubMed: Kraeva 2011 - - Germline - - - 0 - Natalia Kraeva
+/. 6 c.487C>T r.(?) p.Arg163Cys - NA g.38934851C>T g.38444211C>T - - RYR1_000026 in vitro functional study shows altered ryanodine receptor function; EMHG RYR1 db (http://www.emhg.org/genetics/mutations-in-ryr1/) European MH Group genetic testing guidelines May 2005 - - In vitro (cloned) - - - 0 - Johan den Dunnen
+/. - c.487C>T r.(?) p.(Arg163Cys) ACMG pathogenic g.38934851C>T g.38444211C>T - - RYR1_000026 ACMG PS3, PS4, PM1, PM5, PP1_St, PP3_M Journal: Johnston 2020 - - CLASSIFICATION record - - - 0 - Johan den Dunnen
+?/. - c.487C>T r.(?) p.(Arg163Cys) - likely pathogenic g.38934851C>T g.38444211C>T - - RYR1_000026 - PubMed: Gonzalez-Quereda 2020 - - Germline - - - 0 - Johan den Dunnen
+?/. - c.487C>T r.(?) p.(Arg163Cys) ACMG pathogenic g.38934851C>T - - - RYR1_000026 - - - - Germline yes - - - - Ponghatai Damrongphol
+/. 6 c.487C>T r.(?) p.(Arg163Cys) ACMG pathogenic g.38934851C>T g.38444211C>T - - RYR1_000026 ACMG PS3, PS4, PM2, PP3, PP4 PubMed: Cerino 2022 - - Germline - - - 0 - Johan den Dunnen
+/. 6 c.488G>T r.488g>u p.Arg163Leu - pathogenic g.38934852G>T g.38444212G>T - - RYR1_000079 - PubMed: Robinson 2006 - - Germline - - - 0 - Johan den Dunnen
+/. 6 c.488G>T r.(?) p.(Arg163Leu) - pathogenic g.38934852G>T g.38444212G>T - - RYR1_000079 - Monnier (2005) - - Germline - - - 0 - Johan den Dunnen
+/. 6 c.488G>T r.(?) p.Arg163Leu - NA g.38934852G>T g.38444212G>T - - RYR1_000079 in vitro functional study shows modified channel activity; EMHG RYR1 db (http://www.emhg.org/genetics/mutations-in-ryr1/) Monnier (2005) - - In vitro (cloned) - - - 0 - Johan den Dunnen
+?/. - c.488G>T r.(?) p.(Arg163Leu) ACMG likely pathogenic g.38934852G>T g.38444212G>T - - RYR1_000079 ACMG PS3_M, PS4_M, PM1, PP3_M Journal: Johnston 2020 - - CLASSIFICATION record - - - 0 - Johan den Dunnen
+/. 6 c.493G>A r.(?) p.(Gly165Arg) - pathogenic g.38934857G>A g.38444217G>A - - RYR1_000184 - PubMed: Monnier 2005 - - Germline - - - 0 - Johan den Dunnen
+/. 6 c.496G>A r.(?) p.(Asp166Asn) - pathogenic g.38934860G>A g.38444220G>A - - RYR1_000185 - Monnier (2005) - - Germline - - - 0 - Johan den Dunnen
+/. 6 c.496G>A r.(?) p.(Asp166Asn) - pathogenic g.38934860G>A g.38444220G>A - - RYR1_000185 - PubMed: Ruffert 2002; PubMed: Rueffert 2002 - - Germline - - - 0 - Johan den Dunnen
+/. 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 - - - 0 - Johan den Dunnen
+/. 6 c.529C>T r.529c>u p.Arg177Cys - pathogenic g.38934893C>T g.38444253C>T - - RYR1_000080 - PubMed: Robinson 2006 - - Germline - - - 0 - Johan den Dunnen
+/. 6 c.529C>T r.(?) p.(Arg177Cys) - pathogenic g.38934893C>T g.38444253C>T - - RYR1_000080 - Monnier (2005) - - Germline - - - 0 - Johan den Dunnen
+/. 6 c.529C>T r.(?) p.(Arg177Cys) - pathogenic g.38934893C>T g.38444253C>T - - RYR1_000080 - several publications - - Germline - - - 0 - Johan den Dunnen
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