All variants in the MYL2 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_000432.3 transcript reference sequence.

16 entries on 1 page. Showing entries 1 - 16.
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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.64G>A r.(?) p.(Glu22Lys) - VUS g.111356937C>T g.110919133C>T NM_000432:c.G64A - MYL2_000003 - PubMed: Lopes 2013, Journal: Lopes 2013 - - Germline - 1/223 cases HCM - - - Johan den Dunnen
+/. - c.64G>A r.(?) p.(Glu22Lys) - 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 - - - - - VKGL-NL_AMC
+/. - c.64G>A r.(?) p.(Glu22Lys) - 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 - - - - - VKGL-NL_Groningen
+/. - c.64G>A r.(?) p.(Glu22Lys) - 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 - - - - - VKGL-NL_Utrecht
+/. - c.64G>A r.(?) p.(Glu22Lys) - 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 - - - - - VKGL-NL_Rotterdam
+/. 2 c.64G>A r.(?) p.(Glu22Lys) - 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 - - - - - Johan den Dunnen
+/. 2 c.64G>A r.(?) p.(Glu22Lys) - 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 - - - - - Johan den Dunnen
+?/. 2 c.64G>A r.(?) p.(Glu22Lys) - likely pathogenic g.111356937C>T g.110919133C>T (Glu22Lys) - MYL2_000003 not in 210 control chromosomes PubMed: Kabaeva 2002, OMIM:var0002 - - Germline - - TaqI- - - Johan den Dunnen
+/. 2 c.64G>A r.(?) p.(Glu22Lys) - pathogenic g.111356937C>T g.110919133C>T (Glu22Lys) - MYL2_000003 - PubMed: Garcia-Pavia 2011 - - Germline - - - - - Johan den Dunnen
+/. 2 c.64G>A r.(?) p.(Glu22Lys) - pathogenic g.111356937C>T g.110919133C>T (Glu22Lys) - MYL2_000003 - PubMed: Garcia-Pavia 2011 - - Germline - - - - - Johan den Dunnen
+/. 2 c.64G>A r.(?) p.(Glu22Lys) - pathogenic g.111356937C>T g.110919133C>T - - MYL2_000003 - PubMed: Poetter 1996 - - Germline - - - - - Johan den Dunnen
+/. 2 c.64G>A r.(?) p.Glu22Lys - 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) - - - - - Johan den Dunnen
+?/. 2 c.64G>A r.(?) p.Glu22Lys - NA g.111356937C>T g.110919133C>T (Glu22Leu) - MYL2_000003 expression cloning PubMed: Szczesna-Cordary - - In vitro (cloned) - - - - - Johan den Dunnen
+/. - c.64G>A r.(?) p.(Glu22Lys) - 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 - - - - - VKGL-NL_Nijmegen
+/. - c.64G>A r.(?) p.(Glu22Lys) - pathogenic g.111356937C>T g.110919133C>T - - MYL2_000003 - PubMed: Walsh 2017 - - Germline - 3/1535 cases - - - Johan den Dunnen
+?/. - c.64G>A r.(?) p.(Glu22Lys) - likely pathogenic g.111356937C>T g.110919133C>T - - MYL2_000003 - PubMed: Walsh 2017 - - Germline - 2/2650 cases - - - Johan den Dunnen
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