Full data view for 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.

62 entries on 1 page. Showing entries 1 - 62.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-?/. - c.-27C>T likely benign r.(=) p.(=) Unknown g.46904907G>A - MYL3:c.-27C>T - MYL3_000039 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.-13C>T benign r.(=) p.(=) Unknown g.46904893G>A - MYL3:c.-13C>T - MYL3_000038 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.4G>C VUS r.(?) p.(Ala2Pro) Unknown g.46904877C>G - MYL3:c.4G>C (A2P) - MYL3_000037 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.4G>C VUS r.(?) p.(Ala2Pro) Unknown g.46904877C>G - MYL3:c.4G>C (A2P) - MYL3_000037 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.10A>C VUS r.(?) p.(Lys4Gln) Unknown g.46904871T>G - MYL3:c.10A>C (K4Q) - MYL3_000036 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.69C>T benign r.(=) p.(=) Unknown g.46904812G>A - MYL3:c.69C>T (=) - MYL3_000014 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.69C>T benign r.(=) p.(=) Unknown g.46904812G>A - MYL3:c.69C>T (=) - MYL3_000014 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. 1 c.69C>T likely benign r.(?) p.(=) Unknown g.46904812G>A - - - MYL3_000014 present in controls PubMed: Andersen 2001 - - Germline - - - 0 - DNA PCR, SEQ, SSCA - - CMH - PubMed: Andersen 2001 - - - Denmark;South Africa white - 0 - - 1 Johan den Dunnen
-/. 1 c.69C>T benign r.(?) p.(=) Unknown g.46904812G>A - Pro23Pro - MYL3_000014 present in controls PubMed: Kabaeva 2002 - - Germline - - - 0 - DNA PCR, SEQ, SSCA - - CMH - PubMed: Kabaeva 2002 - - - Germany white - 0 - - 1 Johan den Dunnen
-/. - c.69G>A benign - - Unknown g.46904812C>T - MYL3:c.69G>A (=) - MYL3_000035 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.81T>C likely benign r.(=) p.(=) Unknown g.46904800A>G - MYL3:c.81T>C (=) - MYL3_000033 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.129+44T>G benign - - Unknown g.46904708A>C - MYL3:c.129+44T>G - MYL3_000032 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.129+54_129+55del benign r.(=) p.(=) Unknown g.46904697_46904698del - MYL3:c.129+54_129+55delCA - MYL3_000031 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.130-14C>A benign - - Unknown g.46902491G>T - MYL3:c.130-14C>A - MYL3_000030 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 3 c.167A>G pathogenic r.(?) p.(Glu56Gly) Parent #1 g.46902306T>C - E56G - MYL3_000001 net charge substitution -1 to 0 PubMed: Richard 2003 - - Germline - - - 0 - DNA SEQ - - CMH 12707239-? PubMed: Richard 2003 - - - France - - 0 - - 1 Johan den Dunnen
+/. 3 c.170C>A pathogenic r.(?) p.(Ala57Asp) Parent #1 g.46902303G>T - - - MYL3_000019 not in 192 control chromosomes PubMed: Fokstuen 2008, PubMed: Fokstuen 2011 - - Unknown - - - 0 - DNA arraySEQ, SEQ - - CMH - PubMed: Fokstuen 2008, PubMed: Fokstuen 2011 - - - - - - 0 - - 1 Johan den Dunnen
+?/. 3 c.170C>G likely pathogenic r.(?) p.(Ala57Gly) Parent #1 g.46902303G>C - - - MYL3_000008 not in 500 control chromosomes PubMed: Lee 2001 - - Germline - - - 0 - DNA SEQ - - CMH 11174330-SM101 PubMed: Lee 2001 3-generation family, 4-affecteds, 8 unaffected carriers - - Korea - - 0 - - 12 Johan den Dunnen
+?/. 3 c.170C>G likely pathogenic r.(?) p.(Ala57Gly) Parent #1 g.46902303G>C - - - MYL3_000008 not in 500 control chromosomes PubMed: Lee 2001 - - Germline - - - 0 - DNA SEQ - - CMH 11174330-SM325 PubMed: Lee 2001 2-generation family, affected father and son - - Korea - - 0 - - 2 Johan den Dunnen
+?/. 3 c.170C>G likely pathogenic r.(?) p.(Ala57Gly) Parent #1 g.46902303G>C - - - MYL3_000008 - PubMed: Lee 2001 - - Unknown - - - 0 - DNA SEQ - - CMH 11174330-J0831 PubMed: Lee 2001 - M - Japan - >54y 0 - - 1 Johan den Dunnen
?/. - c.220G>A VUS r.(?) p.(Gly74Arg) Unknown g.46902253C>T - MYL3:c.220G>A (G74R) - MYL3_000049 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.220G>A VUS r.(?) p.(Gly74Arg) Unknown g.46902253C>T - MYL3:c.220G>A (G74R) - MYL3_000049 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.222G>A benign r.(=) p.(=) Unknown g.46902251C>T - MYL3:c.222G>A (=) - MYL3_000048 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.235G>A VUS r.(?) p.(Val79Ile) Unknown g.46902238C>T - MYL3:c.235G>A (V79I) - MYL3_000047 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 3 c.242G>A pathogenic r.(?) p.(Arg81Gln) Parent #1 g.46902231C>T - Arg81His - MYL3_000018 not in 192 control chromosomes PubMed: Fokstuen 2008, PubMed: Fokstuen 2011 - - Germline - - - 0 - DNA arraySEQ, SEQ - - CMH - PubMed: Fokstuen 2008, PubMed: Fokstuen 2011 - - - - - - 0 - - 1 Johan den Dunnen
-/. - c.247G>A benign - - Unknown g.46902226C>T - MYL3:c.247G>A (V83M) - MYL3_000046 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. 3 c.261C>T likely benign r.(?) p.(=) Unknown g.46902212G>A - - - MYL3_000015 present in controls PubMed: Andersen 2001 - - Germline - - - 0 - DNA PCR, SEQ, SSCA - - CMH - PubMed: Andersen 2001 - - - South Africa - - 0 - - 1 Johan den Dunnen
-/. - c.267G>A benign r.(=) p.(=) Unknown g.46902206C>T - MYL3:c.267G>A (=) - MYL3_000045 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 3 c.281G>A pathogenic r.(?) p.(Arg94His) Parent #1 g.46902192C>T - - - MYL3_000005 not in 192 control chromosomes PubMed: Fokstuen 2008 - - Germline - - - 0 - DNA arraySEQ, SEQ - - CMH - PubMed: Fokstuen 2008 - M - - - - 0 - - 1 Johan den Dunnen
-/. - c.307+15G>A benign - - Unknown g.46902151C>T - MYL3:c.307+15G>A - MYL3_000044 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 4 c.382G>T pathogenic r.(?) p.(Gly128Cys) Parent #1 g.46901064C>A - - - MYL3_000013 - PubMed: Garcia-Pavia 2011 - - Germline - - - 0 - DNA SEQ - - CMH 21896538-Fam25 PubMed: Garcia-Pavia 2011 5-generation family, 5 affecteds F - Spain - - 0 - - 1 Johan den Dunnen
-?/. 4 c.399C>T likely benign r.(?) p.(=) Unknown g.46901047G>A - - - MYL3_000016 present in controls PubMed: Andersen 2001 - - Germline - - - 0 - DNA PCR, SEQ, SSCA - - CMH - PubMed: Andersen 2001 - - - South Africa - - 0 - - 1 Johan den Dunnen
?/. - c.411G>T VUS r.(=) p.(=) Unknown g.46901035C>A - MYL3:c.411G>T (=) - MYL3_000043 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. 4 c.420C>T benign r.(?) p.(=) Unknown g.46901026G>A - Phe140Phe - MYL3_000017 present in controls PubMed: Kabaeva 2002 - - Germline - - - 0 - DNA PCR, SEQ, SSCA - - CMH - PubMed: Kabaeva 2002 - - - Germany - - 0 - - 1 Johan den Dunnen
?/. - c.421G>A VUS r.(?) p.(Asp141Asn) Unknown g.46901025C>T - MYL3:c.421G>A (D141N) - MYL3_000042 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.427G>A VUS r.(?) p.(Glu143Lys) Unknown g.46901019C>T - MYL3:c.427G>A (E143K) - MYL3_000009 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 4 c.427G>A pathogenic r.(?) p.(Glu143Lys) Both (homozygous) g.46901019C>T - G>A (Glu143Lys) - MYL3_000009 not in 300 control chromosomes PubMed: Olson 2002, OMIM:var0003 - - Germline - - - 0 - DNA SEQ - - CMH 12021217-Famp PubMed: Olson 2002 5-generation family, 3 affected brothers - yes Guatemala - - 0 - - 3 Johan den Dunnen
+/. 4 c.427G>A pathogenic r.(?) p.(Glu143Lys) Parent #1 g.46901019C>T - G>A (Glu143Lys) - MYL3_000009 not in 300 control chromosomes PubMed: Olson 2002 - - Germline - - - 0 - DNA SEQ - - Healthy/Control 12021217-Famc PubMed: Olson 2002 5-generation family, 4 unaffected heterozygous carriers - yes United States - - 0 - - 4 Johan den Dunnen
+/. 4 c.427G>A pathogenic r.(?) p.(Glu143Lys) Maternal (confirmed) g.46901019C>T - G>A (Glu143Lys) - MYL3_000009 not in 380 control chromosomes PubMed: Caleshu 2011, OMIM:var0003 - - Germline - - - 0 - DNA SEQ - - RCM 12021217-FamPat1 PubMed: Caleshu 2011 2-generation family F - El Salvador - - 0 - - 1 Johan den Dunnen
+/. 4 c.427G>A pathogenic r.(?) p.(Glu143Lys) Paternal (inferred) g.46901019C>T - G>A (Glu143Lys) - MYL3_000009 not in 380 control chromosomes PubMed: Caleshu 2011, OMIM:var0003 - - Germline - - - 0 - DNA SEQ - - RCM 12021217-FamPat1 PubMed: Caleshu 2011 2-generation family F - El Salvador - - 0 - - 1 Johan den Dunnen
?/. - c.439A>G VUS r.(?) p.(Thr147Ala) Unknown g.46901007T>C - MYL3:c.439A>G (T147A) - MYL3_000040 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 4 c.445A>G pathogenic r.(?) p.(Met149Val) Parent #1 g.46901001T>C - - - MYL3_000002 not in 378 control/762 CMH chromosomes PubMed: Poetter 1996, OMIM:var0001 - - Germline - - NlaIII- 0 - DNA SEQ - - CMH - PubMed: Poetter 1996, {OMIM160790:0001} large 3-generation family, 13 affecteds - - - - - 0 - - 13 Johan den Dunnen
+/. 4 c.445A>G pathogenic r.(?) p.(Met149Val) Parent #1 g.46901001T>C - - - MYL3_000002 not in >200 control chromosomes PubMed: Arad 2005, OMIM:var0001 - - Germline - - NlaIII- 0 - DNA SEQ - - CMH - PubMed: Arad 2005, {OMIM160790:0001} large family, 12 affecteds F - - - - 0 - - 12 Johan den Dunnen
+/. 4 c.454G>A pathogenic r.(?) p.(Glu152Lys) Parent #1 g.46900992C>T - 4940G>A - MYL3_000011 - PubMed: Kaski 2009 - - Germline - - - 0 - DNA SEQ - - CMH - PubMed: Kaski 2009 - - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
?/. - c.460C>T - r.(?) p.(Arg154Cys) Unknown g.46900986G>A g.46859496G>A NM_000258:c.C460T - MYL3_000020 - PubMed: Lopes 2013, Journal: Lopes 2013 - - Germline - 1/223 cases HCM - 0 - DNA SEQ - - CMH - PubMed: Lopes 2013, Journal: Lopes 2013 analysis of 223 cases - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+/. - c.461G>A pathogenic r.(?) p.(Arg154His) Unknown g.46900985C>T - MYL3:c.461G>A (R154H) - MYL3_000003 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 4 c.461G>A pathogenic r.(?) p.(Arg154His) Parent #1 g.46900985C>T - - - MYL3_000003 not in 378 control/762 CMH chromosomes PubMed: Poetter 1996, OMIM:var0002 - - Germline - - - 0 - DNA SEQ - - CMH - PubMed: Poetter 1996, {OMIM160790:0002} - M - - - - 0 - - 1 Johan den Dunnen
+/. 4 c.463C>G pathogenic r.(?) p.(His155Asp) Parent #1 g.46900983G>C - 4949C>G - MYL3_000012 - PubMed: Kaski 2009 - - Germline - - - 0 - DNA SEQ - - CMH - PubMed: Kaski 2009 - - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+?/. - c.463C>T likely pathogenic r.(?) p.(His155Tyr) Unknown g.46900983G>A - MYL3:c.463C>T (H155Y) - MYL3_000028 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 4 c.466G>A pathogenic r.(?) p.(Val156Met) Parent #1 g.46900980C>T - G>A (Val156Met) - MYL3_000006 not in 300 control chromosomes PubMed: Morita 2006 - - Germline - 2/50 patients - 0 - DNA SEQ - - ? 16754800-s PubMed: Morita 2006 - - - United States - - 0 - - 2 Johan den Dunnen
+/. 4 c.466G>A pathogenic r.(?) p.(Val156Met) Parent #1 g.46900980C>T - G>A (Val156Met) - MYL3_000006 not in 300 control chromosomes PubMed: Morita 2006 - - Germline - 2/4068 - 0 - DNA SEQ - - Healthy/Control 16754800-r PubMed: Morita 2006 2 subjects, 1 left atrial enlargement - - United States - - 0 - - 2 Johan den Dunnen
?/? ? c.476C>T - r.(?) p.(Thr159Met) Parent #1 g.46900970G>A g.46859480G>A - - MYL3_000021 - Vrijenhoek, submitted - - Unknown ? - - 0 - DNA SEQ, SEQ-NG leukocyte - CMH - - - ? ? Netherlands Caucasian - 0 - - 1 Terry Vrijenhoek
?/. - c.476C>T - r.(?) p.(Thr159Met) Unknown g.46900970G>A g.46859480G>A NM_000258:c.C476T - MYL3_000021 - PubMed: Lopes 2013, Journal: Lopes 2013 - - Germline - 1/223 cases HCM - 0 - DNA SEQ - - CMH - PubMed: Lopes 2013, Journal: Lopes 2013 analysis of 223 cases - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+?/. - c.476G>A likely pathogenic - - Unknown g.46900970C>T - MYL3:c.476G>A (R159K) - MYL3_000027 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.482-18G>A likely benign r.(=) p.(=) Unknown g.46899969C>T - MYL3:c.482-18G>A - MYL3_000026 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.482-17C>T benign r.(=) p.(=) Unknown g.46899968G>A - MYL3:c.482-17C>T - MYL3_000025 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 4i c.482-2A>G pathogenic r.482_559del p.Gly161_Glu186del Parent #1 g.46899953T>C - - - MYL3_000004 - PubMed: Andersen 2009 - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - CMH - PubMed: Andersen 2009 2 affected siblings - - Denmark - - 0 - - 2 Johan den Dunnen
+?/. - c.517A>G likely pathogenic r.(?) p.(Met173Val) Unknown g.46899916T>C - MYL3:c.517A>G (M173V) - MYL3_000007 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 5 c.517A>G pathogenic r.(?) p.(Met173Val) Parent #1 g.46899916T>C - Met173Val - MYL3_000007 not in >1000 control chromosomes PubMed: Morita 2008 - - Germline - - - 0 - DNA SEQ - - CMH - PubMed: Morita 2008 - - - United States - - 0 - - 1 Johan den Dunnen
-/. - c.559+6C>T benign r.(=) p.(=) Unknown g.46899868G>A - MYL3:c.559+6C>T - MYL3_000010 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. 5i c.559+6C>T likely benign r.= p.= Parent #1 g.46899868G>A - IVS5+6C>T - MYL3_000010 - PubMed: Morita 2008 - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - CMH - PubMed: Morita 2008 - - - United States - - 0 - - 1 Johan den Dunnen
?/. - c.*8G>A VUS r.(=) p.(=) Unknown g.46899726C>T - MYL3:c.*8G>A - MYL3_000022 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 7 c.*27G>A VUS r.(?) p.(=) Parent #1 g.46899578C>T - *+27G>A - MYL3_000004 potentially affecting mRNA stability PubMed: Andersen 2009 - - Germline - - - 0 - DNA SEQ - - CMH - PubMed: Andersen 2009 - - - - - - 0 - - 1 Johan den Dunnen
Legend