Full data view for gene MYL2

This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages
Information The variants shown are described using the NM_000432.3 transcript reference sequence.

263 entries on 3 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.-283G>A r.(?) p.(=) Unknown - likely benign g.111358616C>T g.110920812C>T - - MYL2_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-71G>T r.(?) p.(=) Unknown - VUS g.111358404C>A g.110920600C>A - - MYL2_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-70T>G r.(?) p.(=) Unknown - likely benign g.111358403A>C g.110920599A>C - - MYL2_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3+33C>T r.(=) p.(=) Unknown - likely benign g.111358298G>A g.110920494G>A - - MYL2_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.3+65G>A r.(=) p.(=) Unknown - benign g.111358266C>T g.110920462C>T - - MYL2_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.3+97C>T r.(=) p.(=) Unknown - benign g.111358234G>A g.110920430G>A - - MYL2_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.4-123C>T r.(=) p.(=) Unknown - benign g.111357120G>A g.110919316G>A - - MYL2_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.4-77A>T r.(=) p.(=) Unknown - benign g.111357074T>A g.110919270T>A - - MYL2_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.4-19_4-16del r.(=) p.(=) Unknown - benign g.111357015_111357018del g.110919211_110919214del MYL2(NM_000432.4):c.4-19_4-16delCGAT - MYL2_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.4-18G>A r.(=) p.(=) Unknown - benign g.111357015C>T - MYL2(NM_000432.4):c.4-18G>A - MYL2_000134 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.4-14C>T r.(=) p.(=) Unknown - benign g.111357011G>A g.110919207G>A MYL2(NM_000432.3):c.4-14C>T, MYL2(NM_000432.4):c.4-14C>T - MYL2_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.4-14C>T r.(=) p.(=) Unknown - benign g.111357011G>A g.110919207G>A MYL2(NM_000432.3):c.4-14C>T, MYL2(NM_000432.4):c.4-14C>T - MYL2_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.4-14C>T r.(=) p.(=) Unknown - benign g.111357011G>A g.110919207G>A MYL2(NM_000432.3):c.4-14C>T, MYL2(NM_000432.4):c.4-14C>T - MYL2_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.4-14C>T r.(=) p.(=) Unknown - benign g.111357011G>A g.110919207G>A MYL2(NM_000432.3):c.4-14C>T, MYL2(NM_000432.4):c.4-14C>T - MYL2_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.4-14del r.(=) p.(=) Unknown - benign g.111357011del g.110919207del MYL2(NM_000432.3):c.4-14delC, MYL2(NM_000432.4):c.4-14delC - MYL2_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4-14del r.(=) p.(=) Unknown - likely benign g.111357011del - MYL2(NM_000432.3):c.4-14delC, MYL2(NM_000432.4):c.4-14delC - MYL2_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 1i c.4-13T>C r.(=) p.(=) Unknown - benign g.111357010A>G g.110919206A>G g2579C>T (L01652 ?) - MYL2_000012 - PubMed: Andersen 2001 - - Germline - - - - - DNA PCR, SEQ, SSCA - - Healthy/Control - PubMed: Andersen 2001 - - - South Africa - - - - - 1 Johan den Dunnen
-?/. - c.8_14del r.(?) p.(Pro3GlnfsTer45) Unknown - likely benign g.111356987_111356993del g.110919183_110919189del MYL2(NM_000432.4):c.8_14delCTAAGAA (p.P3Qfs*45) - MYL2_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.31G>A r.(?) p.(Gly11Arg) Unknown - VUS g.111356970C>T g.110919166C>T - - MYL2_000127 - PubMed: Walsh 2017 - - Germline - 1/188 cases - - - DNA SEQ, SEQ-NG - cardiomyopathy gene panel CM - PubMed: Walsh 2017 - - - United States - - - - - 1 Johan den Dunnen
-?/. - c.33G>A r.(?) p.(Gly11=) Unknown - likely benign g.111356968C>T g.110919164C>T - - MYL2_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.36C>T r.(?) p.(Gly12=) Unknown - benign g.111356965G>A g.110919161G>A MYL2(NM_000432.3):c.36C>T (p.G12=), MYL2(NM_000432.4):c.36C>T (p.G12=) - MYL2_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.36C>T r.(?) p.(Gly12=) Unknown - likely benign g.111356965G>A g.110919161G>A MYL2(NM_000432.3):c.36C>T (p.G12=), MYL2(NM_000432.4):c.36C>T (p.G12=) - MYL2_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.36C>T r.(?) p.(Gly12=) Unknown - likely benign g.111356965G>A g.110919161G>A MYL2(NM_000432.3):c.36C>T (p.G12=), MYL2(NM_000432.4):c.36C>T (p.G12=) - MYL2_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.37G>A r.(?) p.(Ala13Thr) Unknown - VUS g.111356964C>T g.110919160C>T NM_000432:c.G37A - MYL2_000001 - PubMed: Lopes 2013, Journal: Lopes 2013 - - Germline - 1/223 cases HCM - - - DNA SEQ - - CMH - PubMed: Lopes 2013, Journal: Lopes 2013 analysis of 223 cases - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
?/. - c.37G>A r.(?) p.(Ala13Thr) Unknown - VUS g.111356964C>T g.110919160C>T NM_000432:c.G37A - MYL2_000001 - PubMed: Lopes 2013, Journal: Lopes 2013 - - Germline - 1/223 cases HCM - - - DNA SEQ - - CMH - PubMed: Lopes 2013, Journal: Lopes 2013 analysis of 223 cases - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
-?/. - c.37G>A r.(?) p.(Ala13Thr) Unknown - likely benign g.111356964C>T g.110919160C>T MYL2(NM_000432.3):c.37G>A (p.A13T), MYL2(NM_000432.4):c.37G>A (p.A13T) - MYL2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 2 c.37G>A r.(?) p.(Ala13Thr) Parent #1 - likely pathogenic g.111356964C>T g.110919160C>T - - MYL2_000001 not in 378 control/790 CMH chromosomes; may disrupt the phosphorylation site PubMed: Poetter 1996, OMIM:var0001 - - Germline - - - - - DNA PCR, SEQ, SSCA - - CMH - PubMed: Poetter affected individual, family members variable expression/decreased penetrance - - United States - - - - - 1 Johan den Dunnen
+/. 2 c.37G>A r.(?) p.(Ala13Thr) Parent #1 - pathogenic g.111356964C>T g.110919160C>T G>A (Ala13Thr) - MYL2_000001 not in 300 control chromosomes; segregates PubMed: Andersen 2001, PubMed: Hougs 2005, PubMed: Andersen 2009 - - Germline - - - - - DNA PCR, SEQ, SSCA - - CMH Fam-T PubMed: Andersen 2001 family, 2 affecteds, unaffected young carrier - - Denmark - - - - - 3 Johan den Dunnen
+/. 2 c.37G>A r.(?) p.(Ala13Thr) Unknown - pathogenic g.111356964C>T g.110919160C>T - - MYL2_000001 - PubMed: Poetter 1996 - rs104894363 Germline - - - - - DNA SEQ - - CMH - PubMed: Poetter 1996 - - - - - - - - - 1 Johan den Dunnen
+?/. 2 c.37G>A r.(?) p.Ala13Thr Unknown - NA g.111356964C>T g.110919160C>T - - MYL2_000001 in vitro expression cloning, 3x reduced Ca2+ binding properties, phosphorylation increases Ca2+ binding PubMed: Szczesna 2001 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+?/. 2 c.37G>A r.(?) p.Ala13Thr Parent #1 - NA g.111356964C>T g.110919160C>T - - MYL2_000001 expression cloning PubMed: Szczesna-Cordary - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.37G>A r.(?) p.(Ala13Thr) Unknown - likely benign g.111356964C>T g.110919160C>T MYL2(NM_000432.3):c.37G>A (p.A13T), MYL2(NM_000432.4):c.37G>A (p.A13T) - MYL2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.37G>A r.(?) p.(Ala13Thr) Unknown - likely benign g.111356964C>T - MYL2(NM_000432.3):c.37G>A (p.A13T), MYL2(NM_000432.4):c.37G>A (p.A13T) - MYL2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.42dup r.(?) p.(Ser15LeufsTer16) Unknown - VUS g.111356959dup - MYL2(NM_000432.3):c.42dup (p.(Ser15LeufsTer16)) - MYL2_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.45C>T r.(?) p.(Ser15=) Unknown - benign g.111356956G>A - MYL2(NM_000432.4):c.45C>T (p.S15=) - MYL2_000130 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.45_46delinsT r.(?) p.(Asn16Thrfs*34) Unknown - VUS g.111356955_111356956delinsA g.110919151_110919152delinsA - - MYL2_000126 VUS favour pathogenic 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.47del r.(?) p.(Asn16Thrfs*34) Unknown - VUS g.111356955del - MYL2(NM_000432.4):c.47delA (p.N16Tfs*34) - MYL2_000129 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.52T>C r.(?) p.(Phe18Leu) Parent #1 - pathogenic g.111356949A>G g.110919145A>G T52C - MYL2_000002 not in 200 normal chromosomes; may disrupt the phosphorylation site PubMed: Flavigny 1998, OMIM:var0005 - rs28932774 Germline - - AspH1+ - - DNA PCR, SEQ, SSCA - - CMH Fam734 PubMed: Flavigny 1998, OMIM:var0005 4-generation family, 8 affecteds, 4 unaffected young carriers - - France - - - - - 12 Johan den Dunnen
+/. 2 c.52T>C r.(?) p.(Phe18Leu) Parent #1 - pathogenic g.111356949A>G g.110919145A>G - - MYL2_000002 not in 200 control chromosomes PubMed: Richard 2003 - rs28932774 Germline - 1/124 familial CMH - - - DNA SEQ, SSCA - - CMH - PubMed: Richard 2003 - - - France - - - - - 1 Johan den Dunnen
+/. 2 c.52T>C r.(?) p.(Phe18Leu) Unknown - pathogenic g.111356949A>G g.110919145A>G - - MYL2_000002 - PubMed: Flavigny 1998 - rs28932774 Germline - - - - - DNA SEQ - - CMH - PubMed: Flavigny 1998 - - - - - - - - - 1 Johan den Dunnen
?/. 2 c.52T>C r.(?) p.Phe18Leu Unknown - NA g.111356949A>G g.110919145A>G - - MYL2_000002 in vitro expression cloning PubMed: Szczesna 2001 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+?/. 2 c.52T>C r.(?) p.Phe18Leu Parent #1 - NA g.111356949A>G g.110919145A>G - - MYL2_000002 expression cloning PubMed: Szczesna-Cordary - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.52T>C r.(?) p.(Phe18Leu) Unknown - pathogenic g.111356949A>G - MYL2(NM_000432.4):c.52T>C (p.F18L) - MYL2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.58A>C r.(?) p.(Met20Leu) Parent #1 - pathogenic g.111356943T>G g.110919139T>G - - MYL2_000012 - PubMed: Olivotto 2008 - - Germline - - - - - DNA SEQ - - CMH - PubMed: Olivotto 2008 - - - Italy - - - - - 3 Johan den Dunnen
?/. - c.60G>T r.(?) p.(Met20Ile) Unknown - VUS g.111356941C>A g.110919137C>A MYL2(NM_000432.4):c.60G>T (p.M20I) - MYL2_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.64G>A r.(?) p.(Glu22Lys) Unknown - VUS g.111356937C>T g.110919133C>T NM_000432:c.G64A - MYL2_000003 - PubMed: Lopes 2013, Journal: Lopes 2013 - - Germline - 1/223 cases HCM - - - DNA SEQ - - CMH - PubMed: Lopes 2013, Journal: Lopes 2013 analysis of 223 cases - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - c.64G>A r.(?) p.(Glu22Lys) Unknown - pathogenic g.111356937C>T g.110919133C>T MYL2(NM_000432.3):c.64G>A (p.E22K), MYL2(NM_000432.4):c.64G>A (p.E22K) - MYL2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.64G>A r.(?) p.(Glu22Lys) Unknown - pathogenic g.111356937C>T g.110919133C>T MYL2(NM_000432.3):c.64G>A (p.E22K), MYL2(NM_000432.4):c.64G>A (p.E22K) - MYL2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.64G>A r.(?) p.(Glu22Lys) Unknown - pathogenic g.111356937C>T g.110919133C>T MYL2(NM_000432.3):c.64G>A (p.E22K), MYL2(NM_000432.4):c.64G>A (p.E22K) - MYL2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.64G>A r.(?) p.(Glu22Lys) Unknown - pathogenic g.111356937C>T g.110919133C>T MYL2(NM_000432.3):c.64G>A (p.E22K), MYL2(NM_000432.4):c.64G>A (p.E22K) - MYL2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.64G>A r.(?) p.(Glu22Lys) Parent #1 - pathogenic g.111356937C>T g.110919133C>T (Glu22Leu) - MYL2_000003 not in 378 control/790 CMH chromosomes; may disrupt the phosphorylation site PubMed: Poetter 1996, OMIM:var0002 - - Germline - - - - - DNA PCR, SEQ, SSCA - - CMH - PubMed: Poetter 2 affected brothers - - United States - - - - - 2 Johan den Dunnen
+/. 2 c.64G>A r.(?) p.(Glu22Lys) Parent #1 - pathogenic g.111356937C>T g.110919133C>T (Glu22Leu) - MYL2_000003 not in 378 control/790 CMH chromosomes; may disrupt the phosphorylation site PubMed: Poetter 1996, OMIM:var0002 - - Germline - - - - - DNA PCR, SEQ, SSCA - - CMH - PubMed: Poetter - - - United States - - - - - 1 Johan den Dunnen
+?/. 2 c.64G>A r.(?) p.(Glu22Lys) Parent #1 - likely pathogenic g.111356937C>T g.110919133C>T (Glu22Lys) - MYL2_000003 not in 210 control chromosomes PubMed: Kabaeva 2002, OMIM:var0002 - - Germline - - TaqI- - - DNA PCR, SEQ, SSCA - - CMH Fam-K PubMed: Kabaeva 2002 4-generation family, 4 affecteds, 3 uncertain carriers - - Germany white - - - - 7 Johan den Dunnen
+/. 2 c.64G>A r.(?) p.(Glu22Lys) Paternal (confirmed) - pathogenic g.111356937C>T g.110919133C>T (Glu22Lys) - MYL2_000003 - PubMed: Garcia-Pavia 2011 - - Germline - - - - - DNA SEQ - - CMH Fam6-H6 PubMed: Garcia-Pavia 2011 - - - Spain - - - - - 2 Johan den Dunnen
+/. 2 c.64G>A r.(?) p.(Glu22Lys) Maternal (confirmed) - pathogenic g.111356937C>T g.110919133C>T (Glu22Lys) - MYL2_000003 - PubMed: Garcia-Pavia 2011 - - Germline - - - - - DNA SEQ - - CMH Fam6-H6 PubMed: Garcia-Pavia 2011 - - - Spain - - - - - 2 Johan den Dunnen
+/. 2 c.64G>A r.(?) p.(Glu22Lys) Unknown - pathogenic g.111356937C>T g.110919133C>T - - MYL2_000003 - PubMed: Poetter 1996 - - Germline - - - - - DNA SEQ - - CMH - PubMed: Poetter 1996 - - - - - - - - - 1 Johan den Dunnen
+/. 2 c.64G>A r.(?) p.Glu22Lys Unknown - NA g.111356937C>T g.110919133C>T - - MYL2_000003 in vitro expression cloning, 17x reduced Ca2+ binding properties, no phosphorylation PubMed: Szczesna 2001 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+?/. 2 c.64G>A r.(?) p.Glu22Lys Parent #1 - NA g.111356937C>T g.110919133C>T (Glu22Leu) - MYL2_000003 expression cloning PubMed: Szczesna-Cordary - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.64G>A r.(?) p.(Glu22Lys) Unknown - pathogenic g.111356937C>T g.110919133C>T MYL2(NM_000432.3):c.64G>A (p.E22K), MYL2(NM_000432.4):c.64G>A (p.E22K) - MYL2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.64G>A r.(?) p.(Glu22Lys) Unknown - pathogenic g.111356937C>T g.110919133C>T - - MYL2_000003 - PubMed: Walsh 2017 - - Germline - 3/1535 cases - - - DNA SEQ, SEQ-NG - cardiomyopathy gene panel CM - PubMed: Walsh 2017 - - - United Kingdom (Great Britain) - - - - - 3 Johan den Dunnen
+?/. - c.64G>A r.(?) p.(Glu22Lys) Unknown - likely pathogenic g.111356937C>T g.110919133C>T - - MYL2_000003 - 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.80A>G r.(?) p.(Gln27Arg) Unknown - VUS g.111356921T>C g.110919117T>C - - MYL2_000125 - 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.80A>G r.(?) p.(Gln27Arg) Unknown - likely pathogenic g.111356921T>C g.110919117T>C - - MYL2_000125 - 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.84A>T r.(?) p.(Glu28Asp) Unknown - VUS g.111356917T>A g.110919113T>A - - MYL2_000124 VUS favour pathogenic 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.113A>G r.(?) p.(Gln38Arg) Unknown - VUS g.111353575T>C g.110915771T>C - - MYL2_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.119G>A r.(?) p.(Arg40Lys) Unknown - VUS g.111353569C>T g.110915765C>T - - MYL2_000123 - 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.132T>C r.(?) p.(Ile44=) Unknown - benign g.111353556A>G g.110915752A>G MYL2(NM_000432.3):c.132T>C (p.I44=), MYL2(NM_000432.4):c.132T>C (p.I44=) - MYL2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.132T>C r.(?) p.(Ile44=) Unknown - benign g.111353556A>G g.110915752A>G MYL2(NM_000432.3):c.132T>C (p.I44=), MYL2(NM_000432.4):c.132T>C (p.I44=) - MYL2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.132T>C r.(?) p.(Ile44=) Unknown - benign g.111353556A>G g.110915752A>G MYL2(NM_000432.3):c.132T>C (p.I44=), MYL2(NM_000432.4):c.132T>C (p.I44=) - MYL2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.132T>C r.(?) p.(Ile44=) Unknown - benign g.111353556A>G g.110915752A>G MYL2(NM_000432.3):c.132T>C (p.I44=), MYL2(NM_000432.4):c.132T>C (p.I44=) - MYL2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 3 c.132T>C r.(?) p.(=) Unknown - benign g.111353556A>G g.110915752A>G Ile44Ile - MYL2_000015 - PubMed: Kabaeva 2002 - - Germline - 1/372 chromosomes - - - DNA PCR, SEQ, SSCA - - CMH - PubMed: Kabaeva 2002 - - - Germany white - - - - 1 Johan den Dunnen
-/. - c.132T>C r.(?) p.(Ile44=) Unknown - benign g.111353556A>G g.110915752A>G MYL2(NM_000432.3):c.132T>C (p.I44=), MYL2(NM_000432.4):c.132T>C (p.I44=) - MYL2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.135C>A r.(?) p.(Asp45Glu) Unknown - VUS g.111353553G>T g.110915749G>T - - MYL2_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 3 c.135C>T r.(?) p.(=) Unknown - benign g.111353553G>A g.110915749G>A g6027T>C (L01652 ?) - MYL2_000013 - PubMed: Andersen 2001 - - Germline - - - - - DNA PCR, SEQ, SSCA - - Healthy/Control - PubMed: Andersen 2001 - - - Denmark Denmark;African - - - - 1 Johan den Dunnen
+/. 3 c.141C>A r.(?) p.(Asn47Lys) Parent #1 - pathogenic g.111353547G>T g.110915743G>T C>A (Asn47Lys) - MYL2_000004 not in 300 control chromosomes PubMed: Andersen 2001, PubMed: Hougs 2005 - - Germline - - - - - DNA PCR, SEQ, SSCA - - CMH Pat-ZG PubMed: Andersen 2001, PubMed: Hougs 2005 1 affected - - Denmark - - - - - 1 Johan den Dunnen
+/. 3 c.141C>A r.(?) p.(Asn47Lys) Unknown - pathogenic g.111353547G>T g.110915743G>T - - MYL2_000004 - PubMed: Andersen 2001 - - Germline - - - - - DNA SEQ - - CMH - PubMed: Andersen 2001 - - - - - - - - - 1 Johan den Dunnen
+/. 3 c.141C>A r.(?) p.Asn47Lys Parent #1 - NA g.111353547G>T g.110915743G>T - - MYL2_000004 expression cloning PubMed: Szczesna-Cordary - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.142G>A r.(?) p.(Asp48Asn) Unknown - VUS g.111353546C>T - - - MYL2_000136 - - - rs727504405 Unknown - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.142G>T r.(?) p.(Asp48Tyr) Unknown - VUS g.111353546C>A g.110915742C>A - - MYL2_000122 VUS favour pathogenic 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.155C>T r.(?) p.(Thr52Ile) Unknown - VUS g.111353533G>A - - - MYL2_000131 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.163G>T r.(?) p.(Ala55Ser) Unknown - VUS g.111353525C>A g.110915721C>A MYL2(NM_000432.3):c.163G>T (p.A55S), MYL2(NM_000432.4):c.163G>T (p.A55S) - MYL2_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.163G>T r.(?) p.(Ala55Ser) Unknown - VUS g.111353525C>A g.110915721C>A - - MYL2_000088 - 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.163G>T r.(?) p.(Ala55Ser) Unknown - VUS g.111353525C>A - MYL2(NM_000432.3):c.163G>T (p.A55S), MYL2(NM_000432.4):c.163G>T (p.A55S) - MYL2_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.169+198del r.(=) p.(=) Unknown - benign g.111353328del g.110915524del - - MYL2_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.170-54T>C r.(=) p.(=) Unknown - likely benign g.111352148A>G g.110914344A>G MYL2(NM_000432.4):c.170-54T>C - MYL2_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.170-54T>C r.(=) p.(=) Unknown - benign g.111352148A>G - MYL2(NM_000432.4):c.170-54T>C - MYL2_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.170-21_170-20del r.(=) p.(=) Unknown - likely benign g.111352115_111352116del g.110914311_110914312del - - MYL2_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.170-19T>C r.(=) p.(=) Unknown - benign g.111352113A>G g.110914309A>G MYL2(NM_000432.3):c.170-19T>C, MYL2(NM_000432.4):c.170-19T>C - MYL2_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.170-19T>C r.(=) p.(=) Unknown - likely benign g.111352113A>G g.110914309A>G MYL2(NM_000432.3):c.170-19T>C, MYL2(NM_000432.4):c.170-19T>C - MYL2_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.170-19T>C r.(=) p.(=) Unknown - benign g.111352113A>G g.110914309A>G MYL2(NM_000432.3):c.170-19T>C, MYL2(NM_000432.4):c.170-19T>C - MYL2_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.170-19T>C r.(=) p.(=) Unknown - benign g.111352113A>G g.110914309A>G MYL2(NM_000432.3):c.170-19T>C, MYL2(NM_000432.4):c.170-19T>C - MYL2_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.170-19T>C r.(=) p.(=) Unknown - benign g.111352113A>G g.110914309A>G MYL2(NM_000432.3):c.170-19T>C, MYL2(NM_000432.4):c.170-19T>C - MYL2_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.170G>A r.(spl?) p.(Gly57Glu) Maternal (confirmed) - pathogenic g.111352094C>T g.110914290C>T - - MYL2_000020 not in 380 control chromosomes PubMed: Caleshu 2011 - - Germline - - - - - DNA SEQ - - RCM 12021217-FamPat1 PubMed: Caleshu 2011 2-generation family F - El Salvador - - - - - 1 Johan den Dunnen
+?/. - c.170G>A r.(?) p.(Gly57Glu) Unknown - likely pathogenic g.111352094C>T g.110914290C>T - - MYL2_000020 - PubMed: Walsh 2017 - - Germline - 2/2650 cases - - - DNA SEQ, SEQ-NG - cardiomyopathy gene panel CM - PubMed: Walsh 2017 - - - United States - - - - - 2 Johan den Dunnen
+/. 4 c.173G>A r.(?) p.(Arg58Gln) Parent #1 - pathogenic g.111352091C>T g.110914287C>T G173A - MYL2_000005 not in 200 normal chromosomes; Mg2+ binding site disrupted PubMed: Flavigny 1998, OMIM:var0004 - - Germline - - - - - DNA PCR, SEQ, SSCA - - CMH Fam747 PubMed: Flavigny 1998, OMIM:var0004 family, 3 affecteds, 1 unaffected carrier - - France - - - - - 4 Johan den Dunnen
+/. 4 c.173G>A r.(?) p.(Arg58Gln) Parent #1 - pathogenic g.111352091C>T g.110914287C>T G173A - MYL2_000005 not in 200 normal chromosomes; Mg2+ binding site disrupted PubMed: Flavigny 1998, OMIM:var0004 - - Germline - - - - - DNA PCR, SEQ, SSCA - - CMH Fam701 PubMed: Flavigny 1998, OMIM:var0004 family, 5 affecteds - - France - - - - - 5 Johan den Dunnen
+/. 4 c.173G>A r.(?) p.(Arg58Gln) Parent #1 - pathogenic g.111352091C>T g.110914287C>T - - MYL2_000005 not in 210 control chromosomes PubMed: Kabaeva 2002, OMIM:var0004 - - Germline - - - - - DNA PCR, SEQ, SSCA - - CMH Fam-B PubMed: Kabaeva 2002 2-generation family, 3 affecteds - - Germany white - - - - 1 Johan den Dunnen
+/. 4 c.173G>A r.(?) p.(Arg58Gln) Parent #1 - pathogenic g.111352091C>T g.110914287C>T - - MYL2_000005 not in 200 control chromosomes PubMed: Richard 2003 - - Germline - 1/124 familial CMH - - - DNA SEQ, SSCA - - CMH - PubMed: Richard 2003 - - - France - - - - - 1 Johan den Dunnen
+/. 4 c.173G>A r.(?) p.(Arg58Gln) Parent #1 - pathogenic g.111352091C>T g.110914287C>T - - MYL2_000005 - PubMed: Morner 2003 - - Germline - - - - - DNA SEQ - - CMH 12818575-XII PubMed: Morner 2003 - - - Sweden - - - - - 1 Johan den Dunnen
+/. 4 c.173G>A r.(?) p.(Arg58Gln) Parent #1 - pathogenic g.111352091C>T g.110914287C>T - - MYL2_000005 - PubMed: Olivotto 2008 - - Germline - - - - - DNA SEQ - - CMH - PubMed: Olivotto 2008 - - - Italy - - - - - 2 Johan den Dunnen
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