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.

191 entries on 2 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-?/. - c.-27C>T r.(?) p.(=) Unknown - likely benign g.46904907G>A g.46863417G>A MYL3(NM_000258.2):c.-27C>T - MYL3_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-13C>T r.(?) p.(=) Unknown - benign g.46904893G>A g.46863403G>A MYL3(NM_000258.3):c.-13C>T - MYL3_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2T>A r.(?) p.(Met1?) Unknown - VUS g.46904879A>T g.46863389A>T - - MYL3_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.4G>C r.(?) p.(Ala2Pro) Unknown - VUS g.46904877C>G g.46863387C>G MYL3(NM_000258.2):c.4G>C (p.A2P), MYL3(NM_000258.3):c.4G>C (p.A2P) - MYL3_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.4G>C r.(?) p.(Ala2Pro) Unknown - VUS g.46904877C>G g.46863387C>G MYL3(NM_000258.2):c.4G>C (p.A2P), MYL3(NM_000258.3):c.4G>C (p.A2P) - MYL3_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.4G>C r.(?) p.(Ala2Pro) Unknown - VUS g.46904877C>G - MYL3(NM_000258.2):c.4G>C (p.A2P), MYL3(NM_000258.3):c.4G>C (p.A2P) - MYL3_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.10A>C r.(?) p.(Lys4Gln) Unknown - VUS g.46904871T>G g.46863381T>G MYL3(NM_000258.2):c.10A>C (p.K4Q) - MYL3_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.10A>C r.(?) p.(Lys4Gln) Unknown - VUS g.46904871T>G g.46863381T>G MYL3(NM_000258.2):c.10A>C (p.K4Q) - MYL3_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.10A>C r.(?) p.(Lys4Gln) Unknown - VUS g.46904871T>G - - - MYL3_000036 - - - rs1404760917 Unknown - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.11A>G r.(?) p.(Lys4Arg) Unknown - VUS g.46904870T>C g.46863380T>C - - MYL3_000090 - PubMed: Walsh 2017 - - Germline - 1/2650 cases - - - DNA SEQ, SEQ-NG - cardiomyopathy gene panel CM - PubMed: Walsh 2017 - - - United States - - - - - 1 Johan den Dunnen
?/. - c.14A>G r.(?) p.(Lys5Arg) Unknown - VUS g.46904867T>C g.46863377T>C MYL3(NM_000258.2):c.14A>G (p.K5R) - MYL3_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.26A>G r.(?) p.(Lys9Arg) Unknown ACMG VUS g.46904855T>C g.46863365T>C - - MYL3_000091 - PubMed: Isbister 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - - CM CQG1 PubMed: Isbister 2020 - - - Australia - - - - - 1 Johan den Dunnen
?/. - c.54G>C r.(?) p.(Lys18Asn) Unknown - VUS g.46904827C>G g.46863337C>G - - MYL3_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.64G>T r.(?) p.(Ala22Ser) Unknown - VUS g.46904817C>A g.46863327C>A - - MYL3_000089 - PubMed: Walsh 2017 - - Germline - 1/1535 cases - - - DNA SEQ, SEQ-NG - cardiomyopathy gene panel CM - PubMed: Walsh 2017 - - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
-/. - c.69C>T r.(?) p.(Pro23=) Unknown - benign g.46904812G>A g.46863322G>A MYL3(NM_000258.2):c.69C>T (p.P23=), MYL3(NM_000258.3):c.69C>T (p.P23=) - MYL3_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.69C>T r.(?) p.(Pro23=) Unknown - benign g.46904812G>A g.46863322G>A MYL3(NM_000258.2):c.69C>T (p.P23=), MYL3(NM_000258.3):c.69C>T (p.P23=) - MYL3_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 1 c.69C>T r.(?) p.(=) Unknown - likely benign g.46904812G>A g.46863322G>A - - MYL3_000014 present in controls PubMed: Andersen 2001 - - Germline - - - - - DNA PCR, SEQ, SSCA - - CMH - PubMed: Andersen 2001 - - - Denmark;South Africa white - - - - 1 Johan den Dunnen
-/. 1 c.69C>T r.(?) p.(=) Unknown - benign g.46904812G>A g.46863322G>A Pro23Pro - MYL3_000014 present in controls PubMed: Kabaeva 2002 - - Germline - - - - - DNA PCR, SEQ, SSCA - - CMH - PubMed: Kabaeva 2002 - - - Germany white - - - - 1 Johan den Dunnen
-/. - c.69C>T r.(?) p.(Pro23=) Unknown - benign g.46904812G>A g.46863322G>A MYL3(NM_000258.2):c.69C>T (p.P23=), MYL3(NM_000258.3):c.69C>T (p.P23=) - MYL3_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.81T>C r.(?) p.(Pro27=) Unknown - likely benign g.46904800A>G g.46863310A>G MYL3(NM_000258.2):c.81T>C (p.P27=), MYL3(NM_000258.3):c.81T>C (p.P27=) - MYL3_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.81T>C r.(?) p.(Pro27=) Unknown - benign g.46904800A>G g.46863310A>G MYL3(NM_000258.2):c.81T>C (p.P27=), MYL3(NM_000258.3):c.81T>C (p.P27=) - MYL3_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.81T>C r.(?) p.(Pro27=) Unknown - likely benign g.46904800A>G g.46863310A>G MYL3(NM_000258.2):c.81T>C (p.P27=), MYL3(NM_000258.3):c.81T>C (p.P27=) - MYL3_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.81T>C r.(?) p.(Pro27=) Unknown - likely benign g.46904800A>G - MYL3(NM_000258.2):c.81T>C (p.P27=), MYL3(NM_000258.3):c.81T>C (p.P27=) - MYL3_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.92G>A r.(?) p.(Arg31His) Unknown - VUS g.46904789C>T g.46863299C>T MYL3(NM_000258.3):c.92G>A (p.R31H) - MYL3_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.106G>A r.(?) p.(Glu36Lys) Unknown - VUS g.46904775C>T - MYL3(NM_000258.2):c.106G>A (p.E36K) - MYL3_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.128A>C r.(?) p.(Lys43Thr) Unknown - VUS g.46904753T>G g.46863263T>G - - MYL3_000088 - PubMed: Walsh 2017 - - Germline - 1/1535 cases - - - DNA SEQ, SEQ-NG - cardiomyopathy gene panel CM - PubMed: Walsh 2017 - - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
-/. - c.129+17G>T r.(=) p.(=) Unknown - benign g.46904735C>A - MYL3(NM_000258.3):c.129+17G>T - MYL3_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.129+44G>T r.(=) p.(=) Unknown - benign g.46904708C>A g.46863218C>A - - MYL3_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.129+54_129+55del r.(=) p.(=) Unknown - benign g.46904697_46904698del g.46863207_46863208del MYL3(NM_000258.2):c.129+54_129+55delCA - MYL3_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.129+54_129+55del r.(=) p.(=) Unknown - likely benign g.46904697_46904698del g.46863207_46863208del MYL3(NM_000258.2):c.129+54_129+55delCA - MYL3_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.130-14G>T r.(=) p.(=) Unknown - benign g.46902491C>A g.46861001C>A MYL3(NM_000258.2):c.130-14G>T, MYL3(NM_000258.3):c.130-14G>T - MYL3_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.130-14G>T r.(=) p.(=) Unknown - benign g.46902491C>A g.46861001C>A MYL3(NM_000258.2):c.130-14G>T, MYL3(NM_000258.3):c.130-14G>T - MYL3_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.130-14G>T r.(=) p.(=) Unknown - likely benign g.46902491C>A g.46861001C>A MYL3(NM_000258.2):c.130-14G>T, MYL3(NM_000258.3):c.130-14G>T - MYL3_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.130-14G>T r.(=) p.(=) Unknown - likely benign g.46902491C>A g.46861001C>A MYL3(NM_000258.2):c.130-14G>T, MYL3(NM_000258.3):c.130-14G>T - MYL3_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.130-14G>T r.(=) p.(=) Unknown - benign g.46902491C>A g.46861001C>A MYL3(NM_000258.2):c.130-14G>T, MYL3(NM_000258.3):c.130-14G>T - MYL3_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.140C>T r.(?) p.(Thr47Ile) Unknown - VUS g.46902467G>A - MYL3(NM_000258.3):c.140C>T (p.T47I) - MYL3_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.158-4del r.spl? p.? Unknown - benign g.46902320del g.46860830del MYL3(NM_000258.3):c.158-4delG - MYL3_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.158-4del r.spl? p.? Unknown - likely benign g.46902320del g.46860830del MYL3(NM_000258.3):c.158-4delG - MYL3_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.167A>G r.(?) p.(Glu56Gly) Parent #1 - pathogenic g.46902306T>C g.46860816T>C E56G - MYL3_000001 net charge substitution -1 to 0 PubMed: Richard 2003 - - Germline - - - - - DNA SEQ - - CMH 12707239-? PubMed: Richard 2003 - - - France - - - - - 1 Johan den Dunnen
+/. 3 c.170C>A r.(?) p.(Ala57Asp) Parent #1 - pathogenic g.46902303G>T g.46860813G>T - - MYL3_000019 not in 192 control chromosomes PubMed: Fokstuen 2008, PubMed: Fokstuen 2011 - - Unknown - - - - - DNA arraySEQ, SEQ - - CMH - PubMed: Fokstuen 2008, PubMed: Fokstuen 2011 - - - - - - - - - 1 Johan den Dunnen
+/. - c.170C>A r.(?) p.(Ala57Asp) Unknown - pathogenic g.46902303G>T g.46860813G>T MYL3(NM_000258.2):c.170C>A (p.A57D), MYL3(NM_000258.3):c.170C>A (p.A57D) - MYL3_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.170C>A r.(?) p.(Ala57Asp) Unknown - VUS g.46902303G>T g.46860813G>T MYL3(NM_000258.2):c.170C>A (p.A57D), MYL3(NM_000258.3):c.170C>A (p.A57D) - MYL3_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.170C>A r.(?) p.(Ala57Asp) Unknown - VUS g.46902303G>T g.46860813G>T MYL3(NM_000258.2):c.170C>A (p.A57D), MYL3(NM_000258.3):c.170C>A (p.A57D) - MYL3_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.170C>A r.(?) p.(Ala57Asp) Unknown - VUS g.46902303G>T g.46860813G>T MYL3(NM_000258.2):c.170C>A (p.A57D), MYL3(NM_000258.3):c.170C>A (p.A57D) - MYL3_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.170C>A r.(?) p.(Ala57Asp) Unknown - VUS g.46902303G>T - MYL3(NM_000258.2):c.170C>A (p.A57D), MYL3(NM_000258.3):c.170C>A (p.A57D) - MYL3_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 3 c.170C>G r.(?) p.(Ala57Gly) Parent #1 - likely pathogenic g.46902303G>C g.46860813G>C - - MYL3_000008 not in 500 control chromosomes PubMed: Lee 2001 - - Germline - - - - - DNA SEQ - - CMH 11174330-SM101 PubMed: Lee 2001 3-generation family, 4-affecteds, 8 unaffected carriers - - Korea - - - - - 12 Johan den Dunnen
+?/. 3 c.170C>G r.(?) p.(Ala57Gly) Parent #1 - likely pathogenic g.46902303G>C g.46860813G>C - - MYL3_000008 not in 500 control chromosomes PubMed: Lee 2001 - - Germline - - - - - DNA SEQ - - CMH 11174330-SM325 PubMed: Lee 2001 2-generation family, affected father and son - - Korea - - - - - 2 Johan den Dunnen
+?/. 3 c.170C>G r.(?) p.(Ala57Gly) Parent #1 - likely pathogenic g.46902303G>C g.46860813G>C - - MYL3_000008 - PubMed: Lee 2001 - - Unknown - - - - - DNA SEQ - - CMH 11174330-J0831 PubMed: Lee 2001 - M - Japan - >54y - - - 1 Johan den Dunnen
+?/. - c.170C>G r.(?) p.(Ala57Gly) Unknown - likely pathogenic g.46902303G>C g.46860813G>C - - MYL3_000008 - PubMed: Walsh 2017 - - Germline - 2/2650 cases - - - DNA SEQ, SEQ-NG - cardiomyopathy gene panel CM - PubMed: Walsh 2017 - - - United States - - - - - 2 Johan den Dunnen
+?/. - c.170C>G r.(?) p.(Ala57Gly) Unknown - likely pathogenic g.46902303G>C - MYL3(NM_000258.2):c.170C>G (p.A57G), MYL3(NM_000258.3):c.170C>G (p.A57G) - MYL3_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.170C>G r.(?) p.(Ala57Gly) Unknown - VUS g.46902303G>C - MYL3(NM_000258.2):c.170C>G (p.A57G), MYL3(NM_000258.3):c.170C>G (p.A57G) - MYL3_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.170C>T r.(?) p.(Ala57Val) Unknown - VUS g.46902303G>A - MYL3(NM_000258.3):c.170C>T (p.A57V) - MYL3_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.187C>T r.(?) p.(Arg63Cys) Unknown - VUS g.46902286G>A g.46860796G>A MYL3(NM_000258.2):c.187C>T (p.R63C), MYL3(NM_000258.3):c.187C>T (p.R63C) - MYL3_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.187C>T r.(?) p.(Arg63Cys) Unknown - VUS g.46902286G>A g.46860796G>A MYL3(NM_000258.2):c.187C>T (p.R63C), MYL3(NM_000258.3):c.187C>T (p.R63C) - MYL3_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.187C>T r.(?) p.(Arg63Cys) Unknown - VUS g.46902286G>A g.46860796G>A MYL3(NM_000258.2):c.187C>T (p.R63C), MYL3(NM_000258.3):c.187C>T (p.R63C) - MYL3_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.187C>T r.(?) p.(Arg63Cys) Unknown - VUS g.46902286G>A g.46860796G>A - - MYL3_000065 - PubMed: Walsh 2017 - - Germline - 1/2650 cases - - - DNA SEQ, SEQ-NG - cardiomyopathy gene panel CM - PubMed: Walsh 2017 - - - United States - - - - - 1 Johan den Dunnen
?/. - c.188G>A r.(?) p.(Arg63His) Unknown - VUS g.46902285C>T g.46860795C>T - - MYL3_000087 - PubMed: Walsh 2017 - - Germline - 1/1535 cases - - - DNA SEQ, SEQ-NG - cardiomyopathy gene panel CM - PubMed: Walsh 2017 - - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
?/. - c.194C>A r.(?) p.(Pro65His) Unknown - VUS g.46902279G>T - - - MYL3_000108 - - - - Unknown - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.220G>A r.(?) p.(Gly74Arg) Unknown - VUS g.46902253C>T g.46860763C>T MYL3(NM_000258.2):c.220G>A (p.G74R), MYL3(NM_000258.3):c.220G>A (p.G74R) - MYL3_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.220G>A r.(?) p.(Gly74Arg) Unknown - VUS g.46902253C>T g.46860763C>T MYL3(NM_000258.2):c.220G>A (p.G74R), MYL3(NM_000258.3):c.220G>A (p.G74R) - MYL3_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.220G>A r.(?) p.(Gly74Arg) Unknown - VUS g.46902253C>T - MYL3(NM_000258.2):c.220G>A (p.G74R), MYL3(NM_000258.3):c.220G>A (p.G74R) - MYL3_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.220G>A r.(?) p.(Gly74Arg) Unknown - VUS g.46902253C>T - MYL3(NM_000258.2):c.220G>A (p.G74R), MYL3(NM_000258.3):c.220G>A (p.G74R) - MYL3_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.222G>A r.(?) p.(Gly74=) Unknown - benign g.46902251C>T g.46860761C>T MYL3(NM_000258.3):c.222G>A (p.G74=) - MYL3_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.227G>T r.(?) p.(Cys76Phe) Unknown - VUS g.46902246C>A - MYL3(NM_000258.3):c.227G>T (p.C76F) - MYL3_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.235G>A r.(?) p.(Val79Ile) Unknown - VUS g.46902238C>T g.46860748C>T MYL3(NM_000258.3):c.235G>A (p.V79I) - MYL3_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.241C>T r.(?) p.(Arg81Trp) Unknown - VUS g.46902232G>A - - - MYL3_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.242G>A r.(?) p.(Arg81Gln) Parent #1 - pathogenic g.46902231C>T g.46860741C>T Arg81His - MYL3_000018 not in 192 control chromosomes PubMed: Fokstuen 2008, PubMed: Fokstuen 2011 - - Germline - - - - - DNA arraySEQ, SEQ - - CMH - PubMed: Fokstuen 2008, PubMed: Fokstuen 2011 - - - - - - - - - 1 Johan den Dunnen
+?/. - c.242G>A r.(?) p.(Arg81Gln) Unknown - likely pathogenic g.46902231C>T - MYL3(NM_000258.2):c.242G>A (p.(Arg81Gln)) - MYL3_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.245C>T r.(?) p.(Ala82Val) Unknown - VUS g.46902228G>A g.46860738G>A MYL3(NM_000258.2):c.245C>T (p.A82V), MYL3(NM_000258.3):c.245C>T (p.A82V) - MYL3_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.245C>T r.(?) p.(Ala82Val) Unknown - VUS g.46902228G>A - MYL3(NM_000258.2):c.245C>T (p.A82V), MYL3(NM_000258.3):c.245C>T (p.A82V) - MYL3_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.246G>A r.(?) p.(=) Unknown - likely benign g.46902227C>T - MYL3(NM_000258.3):c.246G>A (p.A82=) - MYL3_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.247C>T r.(?) p.(Leu83=) Unknown - likely benign g.46902226G>A g.46860736G>A MYL3(NM_000258.2):c.247C>T (p.L83=), MYL3(NM_000258.3):c.247C>T (p.L83=) - MYL3_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.247C>T r.(?) p.(Leu83=) Unknown - likely benign g.46902226G>A g.46860736G>A MYL3(NM_000258.2):c.247C>T (p.L83=), MYL3(NM_000258.3):c.247C>T (p.L83=) - MYL3_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.247C>T r.(?) p.(Leu83=) Unknown - benign g.46902226G>A - MYL3(NM_000258.2):c.247C>T (p.L83=), MYL3(NM_000258.3):c.247C>T (p.L83=) - MYL3_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 3 c.261C>T r.(?) p.(=) Unknown - likely benign g.46902212G>A g.46860722G>A - - MYL3_000015 present in controls PubMed: Andersen 2001 - - Germline - - - - - DNA PCR, SEQ, SSCA - - CMH - PubMed: Andersen 2001 - - - South Africa - - - - - 1 Johan den Dunnen
-/. - c.267G>A r.(?) p.(Gln89=) Unknown - benign g.46902206C>T g.46860716C>T MYL3(NM_000258.3):c.267G>A (p.Q89=) - MYL3_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.280C>T r.(?) p.(Arg94Cys) Unknown - VUS g.46902193G>A - MYL3(NM_000258.2):c.280C>T (p.R94C) - MYL3_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.281G>A r.(?) p.(Arg94His) Parent #1 - pathogenic g.46902192C>T g.46860702C>T - - MYL3_000005 not in 192 control chromosomes PubMed: Fokstuen 2008 - - Germline - - - - - DNA arraySEQ, SEQ - - CMH - PubMed: Fokstuen 2008 - M - - - - - - - 1 Johan den Dunnen
+?/. - c.281G>A r.(?) p.(Arg94His) Unknown - likely pathogenic g.46902192C>T g.46860702C>T - - MYL3_000005 - PubMed: Walsh 2017 - - Germline - 4/2650 cases - - - DNA SEQ, SEQ-NG - cardiomyopathy gene panel CM - PubMed: Walsh 2017 - - - United States - - - - - 4 Johan den Dunnen
-/. - c.307+15C>T r.(=) p.(=) Unknown - benign g.46902151G>A g.46860661G>A MYL3(NM_000258.2):c.307+15C>T, MYL3(NM_000258.3):c.307+15C>T - MYL3_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.307+15C>T r.(=) p.(=) Unknown - likely benign g.46902151G>A g.46860661G>A MYL3(NM_000258.2):c.307+15C>T, MYL3(NM_000258.3):c.307+15C>T - MYL3_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.307+15C>T r.(=) p.(=) Unknown - likely benign g.46902151G>A g.46860661G>A MYL3(NM_000258.2):c.307+15C>T, MYL3(NM_000258.3):c.307+15C>T - MYL3_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.307+15C>T r.(=) p.(=) Unknown - likely benign g.46902151G>A g.46860661G>A MYL3(NM_000258.2):c.307+15C>T, MYL3(NM_000258.3):c.307+15C>T - MYL3_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.307+15C>T r.(=) p.(=) Unknown - likely benign g.46902151G>A g.46860661G>A MYL3(NM_000258.2):c.307+15C>T, MYL3(NM_000258.3):c.307+15C>T - MYL3_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.307+16G>A r.(=) p.(=) Unknown - benign g.46902150C>T g.46860660C>T MYL3(NM_000258.3):c.307+16G>A - MYL3_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.307+16G>C r.(=) p.(=) Unknown - benign g.46902150C>G - MYL3(NM_000258.3):c.307+16G>C - MYL3_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.307+37A>C r.(=) p.(=) Unknown - benign g.46902129T>G g.46860639T>G - - MYL3_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.338C>T r.(?) p.(Thr113Ile) Unknown - VUS g.46901108G>A g.46859618G>A - - MYL3_000086 - PubMed: Walsh 2017 - - Germline - 1/2650 cases - - - DNA SEQ, SEQ-NG - cardiomyopathy gene panel CM - PubMed: Walsh 2017 - - - United States - - - - - 1 Johan den Dunnen
+/. 4 c.382G>T r.(?) p.(Gly128Cys) Parent #1 - pathogenic g.46901064C>A g.46859574C>A - - MYL3_000013 - PubMed: Garcia-Pavia 2011 - - Germline - - - - - DNA SEQ - - CMH 21896538-Fam25 PubMed: Garcia-Pavia 2011 5-generation family, 5 affecteds F - Spain - - - - - 1 Johan den Dunnen
?/. - c.383G>A r.(?) p.(Gly128Asp) Unknown - VUS g.46901063C>T g.46859573C>T - - MYL3_000085 - PubMed: Walsh 2017 - - Germline - 2/1535 cases - - - DNA SEQ, SEQ-NG - cardiomyopathy gene panel CM - PubMed: Walsh 2017 - - - United Kingdom (Great Britain) - - - - - 2 Johan den Dunnen
-/. - c.393G>A r.(?) p.(Glu131=) Unknown - benign g.46901053C>T - MYL3(NM_000258.3):c.393G>A (p.E131=) - MYL3_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 4 c.399C>T r.(?) p.(=) Unknown - likely benign g.46901047G>A g.46859557G>A - - MYL3_000016 present in controls PubMed: Andersen 2001 - - Germline - - - - - DNA PCR, SEQ, SSCA - - CMH - PubMed: Andersen 2001 - - - South Africa - - - - - 1 Johan den Dunnen
-/. - c.399C>T r.(?) p.(Phe133=) Unknown - benign g.46901047G>A g.46859557G>A MYL3(NM_000258.3):c.399C>T (p.F133=) - MYL3_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.411G>T r.(?) p.(Leu137=) Unknown - VUS g.46901035C>A g.46859545C>A MYL3(NM_000258.2):c.411G>T (p.L137=), MYL3(NM_000258.3):c.411G>T (p.L137=) - MYL3_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.411G>T r.(?) p.(Leu137=) Unknown - benign g.46901035C>A - MYL3(NM_000258.2):c.411G>T (p.L137=), MYL3(NM_000258.3):c.411G>T (p.L137=) - MYL3_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.412C>T r.(?) p.(Arg138Trp) Unknown - VUS g.46901034G>A - MYL3(NM_000258.3):c.412C>T (p.(Arg138Trp)) - MYL3_000109 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.413G>A r.(?) p.(Arg138Gln) Unknown - likely pathogenic g.46901033C>T g.46859543C>T - - MYL3_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 4 c.420C>T r.(?) p.(=) Unknown - benign g.46901026G>A g.46859536G>A Phe140Phe - MYL3_000017 present in controls PubMed: Kabaeva 2002 - - Germline - - - - - DNA PCR, SEQ, SSCA - - CMH - PubMed: Kabaeva 2002 - - - Germany - - - - - 1 Johan den Dunnen
?/. - c.421G>A r.(?) p.(Asp141Asn) Unknown - VUS g.46901025C>T g.46859535C>T MYL3(NM_000258.2):c.421G>A (p.D141N), MYL3(NM_000258.3):c.421G>A (p.D141N) - MYL3_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.421G>A r.(?) p.(Asp141Asn) Unknown - VUS g.46901025C>T - MYL3(NM_000258.2):c.421G>A (p.D141N), MYL3(NM_000258.3):c.421G>A (p.D141N) - MYL3_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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