All transcript variants in gene MYOT

This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages
Information The variants shown are described using the NM_006790.2 transcript reference sequence.

149 entries on 2 pages. Showing entries 1 - 100.
Legend   « First ‹ Prev     1 2     Next › Last »

Effect     

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     
./. - c.-13375330_*8494211dup - - - g.123828524_145717285dup - - - SIL1_000024 mosaicism, copy number 3 in 0.38 cells PubMed: DDDS 2015, Journal: DDDS 2015 - - Somatic - - - 0 - Johan den Dunnen
-/. 1 c.-251A>G benign r.(?) p.(=) g.137203603A>G - - - MYOT_000015 - PubMed: Godley 1999 - - Germline - - - 0 - Johan den Dunnen
-/. 1 c.-124T>G benign r.(?) p.(=) g.137206217T>G - - - MYOT_000004 sequence comparison - - - Germline - 6/50 - 0 - Johan den Dunnen
+/. - c.17G>A pathogenic (dominant) r.(?) p.(Arg6His) g.137206357G>A - n.17G>A - MYOT_000036 not in 210 control chromosomes PubMed: Reilich 2011 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
?/. 2 c.34C>G VUS r.(?) p.(Gln12Glu) g.137206374C>G - - - MYOT_000037 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. 2 c.106A>G pathogenic (dominant) r.(?) p.(Lys36Glu) g.137206446A>G - - - MYOT_000012 control chromosomes PubMed: Olive 2005 - - Germline - - - 0 - Johan den Dunnen
+/. 2 c.106A>G pathogenic (dominant) r.(?) p.(Lys36Glu) g.137206446A>G - - - MYOT_000012 control chromosomes PubMed: Olive 2005 - - Germline - 0/200 - 0 - Johan den Dunnen
+/. 2 c.116C>T pathogenic (dominant) r.(?) p.(Ser39Phe) g.137206456C>T - - - MYOT_000011 control chromosomes PubMed: Foroud 2005, OMIM:var0006 - - Germline - - BbsI- 0 - Johan den Dunnen
+/. 2 c.116C>T pathogenic (dominant) r.(?) p.(Ser39Phe) g.137206456C>T - - - MYOT_000011 control chromosomes PubMed: Foroud 2005, OMIM:var0006 - - Germline - 0/270 BbsI- 0 - Johan den Dunnen
+/. 2 c.116C>T pathogenic (dominant) r.(?) p.(Ser39Phe) g.137206456C>T - - - MYOT_000011 - from website {DBsub-Emory} - - Unknown - - - 0 - Madhuri Hegde
-?/. - c.120T>A likely benign r.(?) p.(=) g.137206460T>A - MYOT(NM_006790.2):c.120T>A (p.I40=) - MYOT_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. 2 c.122T>C VUS r.(?) p.(Ile41Thr) g.137206462T>C - - - MYOT_000038 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
?/. - c.140G>A VUS r.(?) p.(Cys47Tyr) g.137206480G>A - MYOT(NM_006790.2):c.140G>A (p.Cys47Tyr) - MYOT_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.149A>G benign r.(?) p.(Gln50Arg) g.137206489A>G - MYOT(NM_006790.2):c.149A>G (p.Q50R) - MYOT_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. 2 c.149A>G benign r.(?) p.(Gln50Arg) g.137206489A>G - - - MYOT_000010 - PubMed: Godley 1999 - - Germline - - - 0 - Johan den Dunnen
+/. 2 c.164C>T pathogenic (dominant) r.(?) p.(Ser55Phe) g.137206504C>T - - - MYOT_000003 - PubMed: Hauser 2002, OMIM:var0002 - - Germline - - - 0 - Johan den Dunnen
+/. 2 c.164C>T pathogenic (dominant) r.(?) p.(Ser55Phe) g.137206504C>T - - - MYOT_000003 - PubMed: Selcen 2004, OMIM:var0002 - - Germline - - - 0 - Johan den Dunnen
+/. 2 c.164C>T pathogenic (dominant) r.(?) p.(Ser55Phe) g.137206504C>T - - - MYOT_000003 - PubMed: Olive 2005 - - Germline - - - 0 - Johan den Dunnen
+/. 2 c.164C>T pathogenic (dominant) r.(?) p.(Ser55Phe) g.137206504C>T - - - MYOT_000003 - PubMed: Olive 2005 - - Germline - - - 0 - Johan den Dunnen
+/. 2 c.164C>T pathogenic (dominant) r.(?) p.(Ser55Phe) g.137206504C>T - - - MYOT_000003 - PubMed: Berciano 2008 - - Germline - - - 0 - Johan den Dunnen
+/. 2 c.164C>T pathogenic (dominant) r.(?) p.(Ser55Phe) g.137206504C>T - - - MYOT_000003 - PubMed: Berciano 2008 - - Germline - - - 0 - Johan den Dunnen
+/. 2 c.164C>T pathogenic (dominant) r.(?) p.(Ser55Phe) g.137206504C>T - - - MYOT_000003 - PubMed: Berciano 2008 - - Germline - - - 0 - Johan den Dunnen
+/. 2 c.164C>T pathogenic (dominant) r.(?) p.(Ser55Phe) g.137206504C>T - - - MYOT_000003 - PubMed: Berciano 2008 - - Germline - - - 0 - Johan den Dunnen
+/. 2 c.164C>T pathogenic (dominant) r.(?) p.(Ser55Phe) g.137206504C>T - 444C>T - MYOT_000003 not in 200 control chromosomes PubMed: Gamez 2009 - - Germline - - - 0 - Johan den Dunnen
+/. 2 c.164C>T pathogenic (dominant) r.(?) p.(Ser55Phe) g.137206504C>T - 444C>T - MYOT_000003 not in 200 control chromosomes PubMed: Gamez 2009 - - Germline - - - 0 - Johan den Dunnen
+/. 2 c.164C>T pathogenic (dominant) r.(?) p.(Ser55Phe) g.137206504C>T - 444C>T - MYOT_000003 not in 200 control chromosomes PubMed: Gamez 2009 - - Germline - - - 0 - Johan den Dunnen
+/. 2 c.164C>T pathogenic (dominant) r.(?) p.(Ser55Phe) g.137206504C>T - 444C>T - MYOT_000003 not in 200 control chromosomes PubMed: Gamez 2009 - - Germline - - - 0 - Johan den Dunnen
+/. 2 c.164C>T pathogenic (dominant) r.(?) p.(Ser55Phe) g.137206504C>T - 444C>T - MYOT_000003 - PubMed: Penisson-Besniers 2006 - - Germline - - - 0 - Johan den Dunnen
+/. 2 c.(170C>T) pathogenic (dominant) r.170c>u p.Thr57Ile g.137206510C>T - 450C>T - MYOT_000000 transgenic mouse expressing MYOT under control human skeletal actin promoter; protein properly localizes to Z-disc PubMed: Garvey 2006 - rs28937597 animal model - - - 0 - Johan den Dunnen
+/. 2 c.170C>T pathogenic (dominant) r.170c>u p.Thr57Ile g.137206510C>T - 450C>T - MYOT_000001 not in control chromosomes (0/396 USA, 0/200 Finland, 0/60 Japan) PubMed: Hauser 2000, OMIM:var0001 - rs28937597 Germline - - - 0 - Johan den Dunnen
+/. 2 c.170C>T pathogenic (dominant) r.(?) p.(Thr57Ile) g.137206510C>T - - - MYOT_000001 - - - rs28937597 Germline - - - 0 - Tom Winder
+/. 2 c.170C>T pathogenic r.(?) p.(Thr57Ile) g.137206510C>T - - - MYOT_000001 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. 2 c.170C>T pathogenic r.(?) p.(Thr57Ile) g.137206510C>T - - - MYOT_000001 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. 2 c.170C>T pathogenic r.(?) p.(Thr57Ile) g.137206510C>T - - - MYOT_000001 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. 2 c.170C>T pathogenic r.(?) p.(Thr57Ile) g.137206510C>T - - - MYOT_000001 consistent with diagnosis MYOT-related muscular dystrophy PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. 2 c.170C>T pathogenic r.(?) p.(Thr57Ile) g.137206510C>T - - - MYOT_000001 consistent with diagnosis muscular dystrophy PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. 2 c.170C>T pathogenic r.(?) p.(Thr57Ile) g.137206510C>T - - - MYOT_000001 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. 2 c.170C>T pathogenic r.(?) p.(Thr57Ile) g.137206510C>T - - - MYOT_000001 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. 2 c.170C>T pathogenic r.(?) p.(Thr57Ile) g.137206510C>T - - - MYOT_000001 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. 2 c.170C>T pathogenic r.(?) p.(Thr57Ile) g.137206510C>T - - - MYOT_000001 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. 2 c.170C>T pathogenic r.(?) p.(Thr57Ile) g.137206510C>T - - - MYOT_000001 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. 2 c.170C>T pathogenic r.(?) p.(Thr57Ile) g.137206510C>T - - - MYOT_000001 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. 2 c.170C>T pathogenic r.(?) p.(Thr57Ile) g.137206510C>T - - - MYOT_000001 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. - c.179C>G pathogenic r.(?) p.(Ser60Cys) g.137206519C>G - MYOT(NM_006790.2):c.179C>G (p.S60C) - MYOT_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/. 2 c.179C>G pathogenic (dominant) r.(?) p.(Ser60Cys) g.137206519C>G - 459C>G - MYOT_000007 - PubMed: Selcen 2004, OMIM:var0003 - - Germline - - - 0 - Johan den Dunnen
+/. 2 c.179C>G pathogenic (dominant) r.(?) p.(Ser60Cys) g.137206519C>G - 459C>G - MYOT_000007 - PubMed: Selcen 2004, OMIM:var0003 - - Germline - - - 0 - Johan den Dunnen
+/. 2 c.179C>G pathogenic (dominant) r.(?) p.(Ser60Cys) g.137206519C>G - 459C>G - MYOT_000007 - PubMed: Selcen 2004, OMIM:var0003 - - Germline - - - 0 - Johan den Dunnen
+/. 2 c.179C>G pathogenic (dominant) r.(?) p.(Ser60Cys) g.137206519C>G - - - MYOT_000007 - PubMed: Olive 2005 - - Germline - - - 0 - Johan den Dunnen
+/. 2 c.179C>G pathogenic (dominant) r.(?) p.(Ser60Cys) g.137206519C>G - - - MYOT_000007 - PubMed: Olive 2005 - - Germline - - - 0 - Johan den Dunnen
+/. 2 c.179C>G pathogenic (dominant) r.(?) p.(Ser60Cys) g.137206519C>G - - - MYOT_000007 - PubMed: Olive 2005 - - Germline - - - 0 - Johan den Dunnen
+/. 2 c.179C>G pathogenic r.(?) p.(Ser60Cys) g.137206519C>G - - - MYOT_000007 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. 2 c.179C>G pathogenic r.(?) p.(Ser60Cys) g.137206519C>G - - - MYOT_000007 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. 2 c.179C>G pathogenic r.(?) p.(Ser60Cys) g.137206519C>G - - - MYOT_000007 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
?/. 2 c.179C>G VUS r.(?) p.(Ser60Cys) g.137206519C>G - - - MYOT_000007 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. 2 c.179C>G pathogenic r.(?) p.(Ser60Cys) g.137206519C>G - - - MYOT_000007 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. 2 c.179C>G pathogenic r.(?) p.(Ser60Cys) g.137206519C>G - - - MYOT_000007 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. 2 c.179C>G pathogenic r.(?) p.(Ser60Cys) g.137206519C>G - - - MYOT_000007 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. 2 c.179C>G pathogenic r.(?) p.(Ser60Cys) g.137206519C>G - - - MYOT_000007 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. 2 c.179C>G pathogenic r.(?) p.(Ser60Cys) g.137206519C>G - - - MYOT_000007 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. 2 c.179C>G pathogenic r.(?) p.(Ser60Cys) g.137206519C>G - - - MYOT_000007 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. 2 c.179C>G pathogenic r.(?) p.(Ser60Cys) g.137206519C>G - - - MYOT_000007 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. - c.179C>T pathogenic r.(?) p.(Ser60Phe) g.137206519C>T - MYOT(NM_006790.2):c.179C>T (p.S60F) - MYOT_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
?/. - c.179C>T VUS r.(?) p.(Ser60Phe) g.137206519C>T - MYOT(NM_006790.2):c.179C>T (p.S60F) - MYOT_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+?/. - c.179C>T ACMG: 4 r.(?) p.(Ser60Phe) g.137206519C>T - - - MYOT_000008 ACMG grading: PM2,PP1,PS4,PM1 - - rs121908458 Germline - - - 0 - Andreas Laner
+/. 2 c.179C>T pathogenic (dominant) r.(?) p.(Ser60Phe) g.137206519C>T - 459C>T - MYOT_000008 - PubMed: Selcen 2004, OMIM:var0004 - - Germline - - - 0 - Johan den Dunnen
+/. 2 c.179C>T pathogenic (dominant) r.(?) p.(Ser60Phe) g.137206519C>T - - - MYOT_000008 - PubMed: Olive 2005 - - Germline - - - 0 - Johan den Dunnen
+/. 2 c.179C>T pathogenic (dominant) r.(?) p.(Ser60Phe) g.137206519C>T - - - MYOT_000008 unrelated patients PubMed: McNeill 2009 - - Germline - - - 0 - Johan den Dunnen
+/. 2 c.179C>T pathogenic (dominant) r.(?) p.(Ser60Phe) g.137206519C>T - - - MYOT_000008 - PubMed: McNeill 2009 - - Germline - - - 0 - Johan den Dunnen
+/. 2 c.179C>T pathogenic (dominant) r.(?) p.(Ser60Phe) g.137206519C>T - - - MYOT_000008 unrelated patients PubMed: McNeill 2009 - - Germline - - - 0 - Johan den Dunnen
+/. 2 c.179C>T pathogenic (dominant) r.(?) p.(Ser60Phe) g.137206519C>T - - - MYOT_000008 unrelated patients PubMed: McNeill 2009 - - Germline - - - 0 - Johan den Dunnen
+/. 2 c.179C>T pathogenic (dominant) r.(?) p.(Ser60Phe) g.137206519C>T - - - MYOT_000008 unrelated patients PubMed: McNeill 2009 - - Germline - - - 0 - Johan den Dunnen
+/. 2 c.179C>T pathogenic (dominant) r.(?) p.(Ser60Phe) g.137206519C>T - - - MYOT_000008 - PubMed: McNeill 2009 - - Germline - - - 0 - Johan den Dunnen
+/. 2 c.179C>T pathogenic (dominant) r.(?) p.(Ser60Phe) g.137206519C>T - - - MYOT_000008 - PubMed: McNeill 2009 - - Germline - - - 0 - Johan den Dunnen
+/. 2 c.179C>T pathogenic (dominant) r.(?) p.(Ser60Phe) g.137206519C>T - - - MYOT_000008 - PubMed: McNeill 2009 - - Germline - - - 0 - Johan den Dunnen
+/. 2 c.179C>T pathogenic (dominant) r.(?) p.(Ser60Phe) g.137206519C>T - - - MYOT_000008 unrelated patients PubMed: McNeill 2009 - - Germline - - - 0 - Johan den Dunnen
+/. 2 c.179C>T pathogenic (dominant) r.(?) p.(Ser60Phe) g.137206519C>T - - - MYOT_000008 unrelated patients PubMed: McNeill 2009 - - Germline - - - 0 - Johan den Dunnen
+/. 2 c.179C>T pathogenic (dominant) r.(?) p.(Ser60Phe) g.137206519C>T - - - MYOT_000008 - PubMed: McNeill 2009 - - Germline - - - 0 - Johan den Dunnen
+/. 2 c.179C>T pathogenic (dominant) r.(?) p.(Ser60Phe) g.137206519C>T - - - MYOT_000008 unrelated patients PubMed: McNeill 2009 - - Germline - - - 0 - Johan den Dunnen
+/. 2 c.179C>T pathogenic (dominant) r.(?) p.(Ser60Phe) g.137206519C>T - - - MYOT_000008 unrelated patients PubMed: McNeill 2009 - - Germline - - - 0 - Johan den Dunnen
+/. 2 c.179C>T pathogenic (dominant) r.(?) p.(Ser60Phe) g.137206519C>T - - - MYOT_000008 unrelated patients PubMed: Claeys 2008 - - Germline - - - 0 - Johan den Dunnen
+/. 2 c.179C>T pathogenic (dominant) r.(?) p.(Ser60Phe) g.137206519C>T - - - MYOT_000008 unrelated patients PubMed: Claeys 2008 - - Germline - - - 0 - Johan den Dunnen
+/. 2 c.179C>T pathogenic r.(?) p.(Ser60Phe) g.137206519C>T - - - MYOT_000008 consistent with diagnosis muscular dystrophy PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. 2 c.179C>T pathogenic r.(?) p.(Ser60Phe) g.137206519C>T - - - MYOT_000008 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. 2 c.179C>T pathogenic r.(?) p.(Ser60Phe) g.137206519C>T - - - MYOT_000008 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. 2 c.179C>T pathogenic r.(?) p.(Ser60Phe) g.137206519C>T - - - MYOT_000008 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. 2 c.179C>T pathogenic r.(?) p.(Ser60Phe) g.137206519C>T - - - MYOT_000008 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
?/. - c.194C>T VUS r.(?) p.(Ser65Phe) g.137206534C>T - MYOT(NM_006790.2):c.194C>T (p.S65F) - MYOT_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. - c.220A>C benign r.(?) p.(Lys74Gln) g.137206560A>C - MYOT(NM_006790.2):c.220A>C (p.K74Q) - MYOT_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.220A>C benign r.(?) p.(Lys74Gln) g.137206560A>C - MYOT(NM_006790.2):c.220A>C (p.K74Q) - MYOT_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-?/. - c.220A>C likely benign r.(?) p.(Lys74Gln) g.137206560A>C - MYOT(NM_006790.2):c.220A>C (p.K74Q) - MYOT_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
?/. 2 c.220C>A VUS r.(?) p.(Gln74Lys) g.137206560C>A - - - MYOT_000013 - PubMed: Bar 2007 - - Germline no - - 0 - Johan den Dunnen
+/. 2 c.220C>A pathogenic (dominant) r.(?) p.(Gln74Lys) g.137206560C>A - - - MYOT_000013 - PubMed: Olive 2005 - - Germline - - - 0 - Johan den Dunnen
+/. 2 c.220C>A pathogenic (dominant) r.(?) p.(Gln74Lys) g.137206560C>A - - - MYOT_000013 control chomosomes PubMed: Olive 2005 - - Germline - 0/200 - 0 - Johan den Dunnen
-/. 2 c.220C>A benign r.(?) p.(Gln74Lys) g.137206560C>A - - - MYOT_000013 - PubMed: Claeys 2008 - - Germline - - - 0 - Johan den Dunnen
-/. 2 c.220C>A benign r.(?) p.(Gln74Lys) g.137206560C>A - - - MYOT_000013 - PubMed: Claeys 2008 - - Germline - - - 0 - Johan den Dunnen
-/. 2 c.220C>A benign r.(?) p.(Gln74Lys) g.137206560C>A - 220A>C - MYOT_000013 - from website {DBsub-Emory} - - Unknown - - - 0 - Madhuri Hegde
?/. 2 c.257C>A VUS r.(?) p.(Thr86Lys) g.137206597C>A - - - MYOT_000039 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. 2 c.284G>T pathogenic (dominant) r.(?) p.(Ser95Ile) g.137206624G>T - 564G>T - MYOT_000009 - PubMed: Selcen 2004, OMIM:var0005 - - Germline - - - 0 - Johan den Dunnen
?/. 2 c.323A>C VUS r.(?) p.(Asn108Thr) g.137206663A>C - - - MYOT_000018 - from website {DBsub-Emory} - - Unknown - - - 0 - Madhuri Hegde
?/. 2 c.323A>C VUS r.(?) p.(Asn108Thr) g.137206663A>C - - - MYOT_000018 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
Legend   « First ‹ Prev     1 2     Next › Last »