Unique variants in gene MYL3

This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages
Information The variants shown are described using the NM_000258.2 transcript reference sequence.

60 entries on 1 page. Showing entries 1 - 60.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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     
-?/. 1 - c.-27C>T likely benign r.(?) p.(=) g.46904907G>A - MYL3(NM_000258.2):c.-27C>T - MYL3_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.-13C>T benign r.(?) p.(=) g.46904893G>A - MYL3(NM_000258.2):c.-13C>T - MYL3_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 2 - c.4G>C VUS r.(?) p.(Ala2Pro) g.46904877C>G - MYL3(NM_000258.2):c.4G>C (p.A2P) - MYL3_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_Rotterdam
?/. 2 - c.10A>C VUS r.(?) p.(Lys4Gln) g.46904871T>G - MYL3(NM_000258.2):c.10A>C (p.K4Q) - MYL3_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_Rotterdam
?/. 1 - c.54G>C VUS r.(?) p.(Lys18Asn) g.46904827C>G - MYL3(NM_000258.2):c.54G>C - MYL3_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/., -?/. 5 1 c.69C>T benign, likely benign r.(?) p.(=) g.46904812G>A - MYL3(NM_000258.2):c.69C>T (p.=), Pro23Pro - MYL3_000014 VKGL data sharing initiative Nederland, present in controls PubMed: Andersen 2001, PubMed: Kabaeva 2002 - - CLASSIFICATION record, Germline - - - - - VKGL-NL_Nijmegen, VKGL-NL_AMC, Johan den Dunnen, VKGL-NL_Rotterdam
-?/. 1 - c.81T>C likely benign r.(?) p.(=) g.46904800A>G - MYL3(NM_000258.2):c.81T>C (p.=) - MYL3_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.92G>A VUS r.(?) p.(Arg31His) g.46904789C>T - MYL3(NM_000258.2):c.92G>A (p.R31H) - MYL3_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.129+44G>T benign r.(=) p.(=) g.46904708C>A - MYL3(NM_000258.2):c.129+44G>T - MYL3_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/., -/. 2 - c.129+54_129+55del likely benign, benign r.(=) p.(=) g.46904697_46904698del - MYL3(NM_000258.2):c.129+54_129+55del - MYL3_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_Rotterdam
-/., -?/. 5 - c.130-14G>T benign, likely benign r.(=) p.(=) g.46902491C>A - MYL3(NM_000258.2):c.130-14G>T - MYL3_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_Rotterdam, VKGL-NL_Nijmegen, VKGL-NL_Groningen, VKGL-NL_Utrecht
-/. 1 - c.158-4del benign r.spl? p.? g.46902320del - MYL3(NM_000258.2):c.158-4delG - MYL3_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 3 c.167A>G pathogenic r.(?) p.(Glu56Gly) g.46902306T>C - E56G - MYL3_000001 net charge substitution -1 to 0 PubMed: Richard 2003 - - Germline - - - - - Johan den Dunnen
?/., +?/., +/. 5 3 c.170C>A VUS, likely pathogenic, pathogenic r.(?) p.(Ala57Asp) g.46902303G>T - MYL3(NM_000258.2):c.170C>A (p.A57D) - MYL3_000019 VKGL data sharing initiative Nederland, not in 192 control chromosomes PubMed: Fokstuen 2008, PubMed: Fokstuen 2011 - - CLASSIFICATION record, Unknown - - - - - VKGL-NL_AMC, VKGL-NL_Rotterdam, VKGL-NL_Nijmegen, VKGL-NL_Utrecht, Johan den Dunnen
+?/. 3 3 c.170C>G likely pathogenic r.(?) p.(Ala57Gly) g.46902303G>C - - - MYL3_000008 not in 500 control chromosomes PubMed: Lee 2001 - - Germline, Unknown - - - - - Johan den Dunnen
?/. 4 - c.187C>T VUS r.(?) p.(Arg63Cys) g.46902286G>A - MYL3(NM_000258.2):c.187C>T (p.R63C) - MYL3_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_Rotterdam, VKGL-NL_Nijmegen, VKGL-NL_Utrecht
?/. 2 - c.220G>A VUS r.(?) p.(Gly74Arg) g.46902253C>T - MYL3(NM_000258.2):c.220G>A (p.G74R) - MYL3_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_Utrecht
-/. 1 - c.222G>A benign r.(?) p.(=) g.46902251C>T - MYL3(NM_000258.2):c.222G>A (p.=) - MYL3_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.235G>A VUS r.(?) p.(Val79Ile) g.46902238C>T - MYL3(NM_000258.2):c.235G>A (p.V79I) - MYL3_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 3 c.242G>A pathogenic r.(?) p.(Arg81Gln) g.46902231C>T - Arg81His - MYL3_000018 not in 192 control chromosomes PubMed: Fokstuen 2008, PubMed: Fokstuen 2011 - - Germline - - - - - Johan den Dunnen
-?/. 2 - c.247C>T likely benign r.(?) p.(=) g.46902226G>A - MYL3(NM_000258.2):c.247C>T (p.=) - MYL3_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
-?/. 1 3 c.261C>T likely benign r.(?) p.(=) g.46902212G>A - - - MYL3_000015 present in controls PubMed: Andersen 2001 - - Germline - - - - - Johan den Dunnen
-/. 1 - c.267G>A benign r.(?) p.(=) g.46902206C>T - MYL3(NM_000258.2):c.267G>A (p.=) - MYL3_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 3 c.281G>A pathogenic r.(?) p.(Arg94His) g.46902192C>T - - - MYL3_000005 not in 192 control chromosomes PubMed: Fokstuen 2008 - - Germline - - - - - Johan den Dunnen
-/., -?/. 5 - c.307+15C>T benign, likely benign r.(=) p.(=) g.46902151G>A - MYL3(NM_000258.2):c.307+15C>T - MYL3_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_Rotterdam, VKGL-NL_Nijmegen, VKGL-NL_Groningen, VKGL-NL_Utrecht
-/. 1 - c.307+16G>A benign r.(=) p.(=) g.46902150C>T - MYL3(NM_000258.2):c.307+16G>A - MYL3_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.307+37A>C benign r.(=) p.(=) g.46902129T>G - MYL3(NM_000258.2):c.307+37A>C - MYL3_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 4 c.382G>T pathogenic r.(?) p.(Gly128Cys) g.46901064C>A - - - MYL3_000013 - PubMed: Garcia-Pavia 2011 - - Germline - - - - - Johan den Dunnen
-/., -?/. 2 4 c.399C>T benign, likely benign r.(?) p.(=) g.46901047G>A - MYL3(NM_000258.2):c.399C>T (p.=) - MYL3_000016 VKGL data sharing initiative Nederland, present in controls PubMed: Andersen 2001 - - CLASSIFICATION record, Germline - - - - - VKGL-NL, Johan den Dunnen
?/. 1 - c.411G>T VUS r.(?) p.(=) g.46901035C>A - MYL3(NM_000258.2):c.411G>T (p.=) - MYL3_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 4 c.420C>T benign r.(?) p.(=) g.46901026G>A - Phe140Phe - MYL3_000017 present in controls PubMed: Kabaeva 2002 - - Germline - - - - - Johan den Dunnen
?/. 1 - c.421G>A VUS r.(?) p.(Asp141Asn) g.46901025C>T - MYL3(NM_000258.2):c.421G>A (p.D141N) - MYL3_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/., +/. 5 4 c.427G>A VUS, pathogenic r.(?) p.(Glu143Lys) g.46901019C>T - MYL3(NM_000258.2):c.427G>A (p.E143K), G>A (Glu143Lys) - MYL3_000009 VKGL data sharing initiative Nederland, not in 300 control chromosomes, not in 380 control chromosomes PubMed: Olson 2002, OMIM:var0003, PubMed: Olson 2002, PubMed: Caleshu 2011, OMIM:var0003 - - CLASSIFICATION record, Germline - - - - - VKGL-NL, Johan den Dunnen
?/. 1 - c.439A>G VUS r.(?) p.(Thr147Ala) g.46901007T>C - MYL3(NM_000258.2):c.439A>G (p.T147A) - MYL3_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 2 4 c.445A>G pathogenic r.(?) p.(Met149Val) g.46901001T>C - - - MYL3_000002 not in 378 control/762 CMH chromosomes, not in >200 control chromosomes PubMed: Poetter 1996, OMIM:var0001, PubMed: Arad 2005, OMIM:var0001 - - Germline - - NlaIII- - - Johan den Dunnen
?/., +/. 4 - c.452C>T VUS, pathogenic r.(?) p.(Ala151Val) g.46900994G>A - MYL3(NM_000258.2):c.452C>T (p.A151V) - MYL3_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_Rotterdam, VKGL-NL_Nijmegen, VKGL-NL_Groningen
+/. 1 4 c.454G>A pathogenic r.(?) p.(Glu152Lys) g.46900992C>T - 4940G>A - MYL3_000011 - PubMed: Kaski 2009 - - Germline - - - - - Johan den Dunnen
?/. 1 - c.460C>T - r.(?) p.(Arg154Cys) g.46900986G>A g.46859496G>A NM_000258:c.C460T - MYL3_000020 - PubMed: Lopes 2013, Journal: Lopes 2013 - - Germline - 1/223 cases HCM - - - Johan den Dunnen
+?/., +/. 4 4 c.461G>A likely pathogenic, pathogenic r.(?) p.(Arg154His) g.46900985C>T - MYL3(NM_000258.2):c.461G>A (p.R154H) - MYL3_000003 VKGL data sharing initiative Nederland, not in 378 control/762 CMH chromosomes PubMed: Poetter 1996, OMIM:var0002 - - CLASSIFICATION record, Germline - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen, Johan den Dunnen, VKGL-NL_Utrecht
+/. 1 4 c.463C>G pathogenic r.(?) p.(His155Asp) g.46900983G>C - 4949C>G - MYL3_000012 - PubMed: Kaski 2009 - - Germline - - - - - Johan den Dunnen
+?/. 1 - c.463C>T likely pathogenic r.(?) p.(His155Tyr) g.46900983G>A - MYL3(NM_000258.2):c.463C>T (p.H155Y) - MYL3_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/., +/. 3 4 c.466G>A VUS, pathogenic r.(?) p.(Val156Met) g.46900980C>T - MYL3(NM_000258.2):c.466G>A (p.V156M), G>A (Val156Met) - MYL3_000006 VKGL data sharing initiative Nederland, not in 300 control chromosomes PubMed: Morita 2006 - - CLASSIFICATION record, Germline - 2/50 patients, 2/4068 - - - VKGL-NL, Johan den Dunnen
?/., ?/? 3 ? c.476C>T VUS r.(?) p.(Thr159Met) g.46900970G>A g.46859480G>A MYL3(NM_000258.2):c.476C>T (p.(Thr159Met)), NM_000258:c.C476T - MYL3_000021 VKGL data sharing initiative Nederland PubMed: Lopes 2013, Journal: Lopes 2013, Vrijenhoek, submitted - - CLASSIFICATION record, Germline, Unknown ? 1/223 cases HCM - - - VKGL-NL, Johan den Dunnen, Terry Vrijenhoek
-/. 1 - c.481+108C>T benign r.(=) p.(=) g.46900857G>A - MYL3(NM_000258.2):c.481+108C>T - MYL3_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.482-100C>T benign r.(=) p.(=) g.46900051G>A - MYL3(NM_000258.2):c.482-100C>T - MYL3_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.482-26C>T likely benign r.(=) p.(=) g.46899977G>A - MYL3(NM_000258.2):c.482-26C>T - MYL3_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 2 - c.482-18G>A likely benign r.(=) p.(=) g.46899969C>T - MYL3(NM_000258.2):c.482-18G>A - MYL3_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_Groningen
-/., -?/. 2 - c.482-17C>T benign, likely benign r.(=) p.(=) g.46899968G>A - MYL3(NM_000258.2):c.482-17C>T - MYL3_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_Utrecht
+/. 1 4i c.482-2A>G pathogenic r.482_559del p.Gly161_Glu186del g.46899953T>C - - - MYL3_000004 - PubMed: Andersen 2009 - - Germline - - - - - Johan den Dunnen
+?/., +/., ?/. 3 5 c.517A>G likely pathogenic, pathogenic, VUS r.(?) p.(Met173Val) g.46899916T>C - MYL3(NM_000258.2):c.517A>G (p.M173V), Met173Val - MYL3_000007 VKGL data sharing initiative Nederland, not in >1000 control chromosomes PubMed: Morita 2008 - - CLASSIFICATION record, Germline - - - - - VKGL-NL_Groningen, Johan den Dunnen, VKGL-NL_Nijmegen
+?/. 1 - c.518T>C likely pathogenic r.(?) p.(Met173Thr) g.46899915A>G - MYL3(NM_000258.2):c.518T>C - MYL3_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.530A>G VUS r.(?) p.(Glu177Gly) g.46899903T>C - MYL3(NM_000258.2):c.530A>G - MYL3_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.532G>A VUS r.(?) p.(Asp178Asn) g.46899901C>T - MYL3(NM_000258.2):c.532G>A (p.(Asp178Asn)) - MYL3_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/., -?/. 2 5i c.559+6C>T benign, likely benign r.(=), r.= p.(=), p.= g.46899868G>A - MYL3(NM_000258.2):c.559+6C>T, IVS5+6C>T - MYL3_000010 VKGL data sharing initiative Nederland PubMed: Morita 2008 - - CLASSIFICATION record, Germline - - - - - VKGL-NL, Johan den Dunnen
?/. 1 - c.*8G>A VUS r.(=) p.(=) g.46899726C>T - MYL3(NM_000258.2):c.*8G>A - MYL3_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.*14-13C>G likely benign r.(=) p.(=) g.46899604G>C - MYL3(NM_000258.2):c.*14-13C>G - MYL3_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 7 c.*27G>A VUS r.(?) p.(=) g.46899578C>T - *+27G>A - MYL3_000004 potentially affecting mRNA stability PubMed: Andersen 2009 - - Germline - - - - - Johan den Dunnen
?/. 1 - c.*67C>T VUS r.(=) p.(=) g.46899538G>A - MYL3(NM_000258.2):c.*67C>T - MYL3_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.*89G>A benign r.(=) p.(=) g.46899516C>T - MYL3(NM_000258.2):c.*89G>A - MYL3_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.*218A>G benign r.(=) p.(=) g.46899387T>C - MYL3(NM_000258.2):c.*218A>G - MYL3_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
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