All variants in the MYOT 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_006790.2 transcript reference sequence.

179 entries on 2 pages. Showing entries 1 - 100.
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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.-13375330_*8494211dup - - - pathogenic 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 r.(?) p.(=) - benign g.137203603A>G g.137867914A>G - - MYOT_000015 - PubMed: Godley 1999 - - Germline - - - 0 - Johan den Dunnen
?/. - c.-214C>T r.(?) p.(=) - VUS g.137203640C>T g.137867951C>T - - MYOT_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 1 c.-124T>G r.(?) p.(=) - benign g.137206217T>G g.137870528T>G - - MYOT_000004 sequence comparison - - - Germline - 6/50 - 0 - Johan den Dunnen
+/. - c.17G>A r.(?) p.(Arg6His) - pathogenic (dominant) g.137206357G>A g.137870668G>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 r.(?) p.(Gln12Glu) - VUS g.137206374C>G g.137870685C>G - - MYOT_000037 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. 2 c.106A>G r.(?) p.(Lys36Glu) - pathogenic (dominant) g.137206446A>G g.137870757A>G - - MYOT_000012 control chromosomes PubMed: Olive 2005 - - Germline - - - 0 - Johan den Dunnen
+/. 2 c.106A>G r.(?) p.(Lys36Glu) - pathogenic (dominant) g.137206446A>G g.137870757A>G - - MYOT_000012 control chromosomes PubMed: Olive 2005 - - Germline - 0/200 - 0 - Johan den Dunnen
+/. 2 c.116C>T r.(?) p.(Ser39Phe) - pathogenic (dominant) g.137206456C>T g.137870767C>T - - MYOT_000011 control chromosomes PubMed: Foroud 2005, OMIM:var0006 - - Germline - - BbsI- 0 - Johan den Dunnen
+/. 2 c.116C>T r.(?) p.(Ser39Phe) - pathogenic (dominant) g.137206456C>T g.137870767C>T - - MYOT_000011 control chromosomes PubMed: Foroud 2005, OMIM:var0006 - - Germline - 0/270 BbsI- 0 - Johan den Dunnen
+/. 2 c.116C>T r.(?) p.(Ser39Phe) - pathogenic (dominant) g.137206456C>T g.137870767C>T - - MYOT_000011 - from website {DBsub-Emory} - - Unknown - - - 0 - Madhuri Hegde
-?/. - c.120T>A r.(?) p.(Ile40=) - likely benign g.137206460T>A g.137870771T>A MYOT(NM_006790.2):c.120T>A (p.I40=) - MYOT_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
?/. 2 c.122T>C r.(?) p.(Ile41Thr) - VUS g.137206462T>C g.137870773T>C - - MYOT_000038 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
?/. - c.140G>A r.(?) p.(Cys47Tyr) - VUS g.137206480G>A g.137870791G>A - - MYOT_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-/. - c.149A>G r.(?) p.(Gln50Arg) - benign g.137206489A>G g.137870800A>G MYOT(NM_006790.2):c.149A>G (p.Q50R) - MYOT_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. 2 c.149A>G r.(?) p.(Gln50Arg) - benign g.137206489A>G g.137870800A>G - - MYOT_000010 - PubMed: Godley 1999 - - Germline - - - 0 - Johan den Dunnen
+/. - c.163T>C r.(?) p.(Ser55Pro) - pathogenic (dominant) g.137206503T>C g.137870814T>C - - MYOT_000074 56kb region of homozygosity PubMed: Yis 2018 - - Germline - - - 0 - Johan den Dunnen
+/. 2 c.164C>T r.(?) p.(Ser55Phe) - pathogenic (dominant) g.137206504C>T g.137870815C>T - - MYOT_000003 - PubMed: Hauser 2002, OMIM:var0002 - - Germline - - - 0 - Johan den Dunnen
+/. 2 c.164C>T r.(?) p.(Ser55Phe) - pathogenic (dominant) g.137206504C>T g.137870815C>T - - MYOT_000003 - PubMed: Selcen 2004, OMIM:var0002 - - Germline - - - 0 - Johan den Dunnen
+/. 2 c.164C>T r.(?) p.(Ser55Phe) - pathogenic (dominant) g.137206504C>T g.137870815C>T - - MYOT_000003 - PubMed: Olive 2005 - - Germline - - - 0 - Johan den Dunnen
+/. 2 c.164C>T r.(?) p.(Ser55Phe) - pathogenic (dominant) g.137206504C>T g.137870815C>T - - MYOT_000003 - PubMed: Olive 2005 - - Germline - - - 0 - Johan den Dunnen
+/. 2 c.164C>T r.(?) p.(Ser55Phe) - pathogenic (dominant) g.137206504C>T g.137870815C>T - - MYOT_000003 - PubMed: Berciano 2008 - - Germline - - - 0 - Johan den Dunnen
+/. 2 c.164C>T r.(?) p.(Ser55Phe) - pathogenic (dominant) g.137206504C>T g.137870815C>T - - MYOT_000003 - PubMed: Berciano 2008 - - Germline - - - 0 - Johan den Dunnen
+/. 2 c.164C>T r.(?) p.(Ser55Phe) - pathogenic (dominant) g.137206504C>T g.137870815C>T - - MYOT_000003 - PubMed: Berciano 2008 - - Germline - - - 0 - Johan den Dunnen
+/. 2 c.164C>T r.(?) p.(Ser55Phe) - pathogenic (dominant) g.137206504C>T g.137870815C>T - - MYOT_000003 - PubMed: Berciano 2008 - - Germline - - - 0 - Johan den Dunnen
+/. 2 c.164C>T r.(?) p.(Ser55Phe) - pathogenic (dominant) g.137206504C>T g.137870815C>T 444C>T - MYOT_000003 not in 200 control chromosomes PubMed: Gamez 2009 - - Germline - - - 0 - Johan den Dunnen
+/. 2 c.164C>T r.(?) p.(Ser55Phe) - pathogenic (dominant) g.137206504C>T g.137870815C>T 444C>T - MYOT_000003 not in 200 control chromosomes PubMed: Gamez 2009 - - Germline - - - 0 - Johan den Dunnen
+/. 2 c.164C>T r.(?) p.(Ser55Phe) - pathogenic (dominant) g.137206504C>T g.137870815C>T 444C>T - MYOT_000003 not in 200 control chromosomes PubMed: Gamez 2009 - - Germline - - - 0 - Johan den Dunnen
+/. 2 c.164C>T r.(?) p.(Ser55Phe) - pathogenic (dominant) g.137206504C>T g.137870815C>T 444C>T - MYOT_000003 not in 200 control chromosomes PubMed: Gamez 2009 - - Germline - - - 0 - Johan den Dunnen
+/. 2 c.164C>T r.(?) p.(Ser55Phe) - pathogenic (dominant) g.137206504C>T g.137870815C>T 444C>T - MYOT_000003 - PubMed: Penisson-Besniers 2006 - - Germline - - - 0 - Johan den Dunnen
+/. 2 c.(170C>T) r.170c>u p.Thr57Ile - pathogenic (dominant) g.137206510C>T g.137870821C>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 r.170c>u p.Thr57Ile - pathogenic (dominant) g.137206510C>T g.137870821C>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 r.(?) p.(Thr57Ile) - pathogenic (dominant) g.137206510C>T g.137870821C>T - - MYOT_000001 - - - rs28937597 Germline - - - 0 - Tom Winder
+/. 2 c.170C>T r.(?) p.(Thr57Ile) - pathogenic g.137206510C>T g.137870821C>T - - MYOT_000001 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. 2 c.170C>T r.(?) p.(Thr57Ile) - pathogenic g.137206510C>T g.137870821C>T - - MYOT_000001 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. 2 c.170C>T r.(?) p.(Thr57Ile) - pathogenic g.137206510C>T g.137870821C>T - - MYOT_000001 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. 2 c.170C>T r.(?) p.(Thr57Ile) - pathogenic g.137206510C>T g.137870821C>T - - MYOT_000001 consistent with diagnosis MYOT-related muscular dystrophy PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. 2 c.170C>T r.(?) p.(Thr57Ile) - pathogenic g.137206510C>T g.137870821C>T - - MYOT_000001 consistent with diagnosis muscular dystrophy PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. 2 c.170C>T r.(?) p.(Thr57Ile) - pathogenic g.137206510C>T g.137870821C>T - - MYOT_000001 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. 2 c.170C>T r.(?) p.(Thr57Ile) - pathogenic g.137206510C>T g.137870821C>T - - MYOT_000001 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. 2 c.170C>T r.(?) p.(Thr57Ile) - pathogenic g.137206510C>T g.137870821C>T - - MYOT_000001 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. 2 c.170C>T r.(?) p.(Thr57Ile) - pathogenic g.137206510C>T g.137870821C>T - - MYOT_000001 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. 2 c.170C>T r.(?) p.(Thr57Ile) - pathogenic g.137206510C>T g.137870821C>T - - MYOT_000001 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. 2 c.170C>T r.(?) p.(Thr57Ile) - pathogenic g.137206510C>T g.137870821C>T - - MYOT_000001 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. 2 c.170C>T r.(?) p.(Thr57Ile) - pathogenic g.137206510C>T g.137870821C>T - - MYOT_000001 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+?/. - c.170del r.(?) p.(Thr57Asnfs*2) - VUS g.137206510del g.137870821del - - MYOT_000070 In silico tools support pathogenicity (CADD = 33.0) - - - Germline/De novo (untested) - - - 0 - Helen Latsoudis
+/. - c.179C>G r.(?) p.(Ser60Cys) - pathogenic g.137206519C>G g.137870830C>G MYOT(NM_006790.2):c.179C>G (p.S60C) - MYOT_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
+/. 2 c.179C>G r.(?) p.(Ser60Cys) - pathogenic (dominant) g.137206519C>G g.137870830C>G 459C>G - MYOT_000007 - PubMed: Selcen 2004, OMIM:var0003 - - Germline - - - 0 - Johan den Dunnen
+/. 2 c.179C>G r.(?) p.(Ser60Cys) - pathogenic (dominant) g.137206519C>G g.137870830C>G 459C>G - MYOT_000007 - PubMed: Selcen 2004, OMIM:var0003 - - Germline - - - 0 - Johan den Dunnen
+/. 2 c.179C>G r.(?) p.(Ser60Cys) - pathogenic (dominant) g.137206519C>G g.137870830C>G 459C>G - MYOT_000007 - PubMed: Selcen 2004, OMIM:var0003 - - Germline - - - 0 - Johan den Dunnen
+/. 2 c.179C>G r.(?) p.(Ser60Cys) - pathogenic (dominant) g.137206519C>G g.137870830C>G - - MYOT_000007 - PubMed: Olive 2005 - - Germline - - - 0 - Johan den Dunnen
+/. 2 c.179C>G r.(?) p.(Ser60Cys) - pathogenic (dominant) g.137206519C>G g.137870830C>G - - MYOT_000007 - PubMed: Olive 2005 - - Germline - - - 0 - Johan den Dunnen
+/. 2 c.179C>G r.(?) p.(Ser60Cys) - pathogenic (dominant) g.137206519C>G g.137870830C>G - - MYOT_000007 - PubMed: Olive 2005 - - Germline - - - 0 - Johan den Dunnen
+/. 2 c.179C>G r.(?) p.(Ser60Cys) - pathogenic g.137206519C>G g.137870830C>G - - MYOT_000007 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. 2 c.179C>G r.(?) p.(Ser60Cys) - pathogenic g.137206519C>G g.137870830C>G - - MYOT_000007 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. 2 c.179C>G r.(?) p.(Ser60Cys) - pathogenic g.137206519C>G g.137870830C>G - - MYOT_000007 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
?/. 2 c.179C>G r.(?) p.(Ser60Cys) - VUS g.137206519C>G g.137870830C>G - - MYOT_000007 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. 2 c.179C>G r.(?) p.(Ser60Cys) - pathogenic g.137206519C>G g.137870830C>G - - MYOT_000007 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. 2 c.179C>G r.(?) p.(Ser60Cys) - pathogenic g.137206519C>G g.137870830C>G - - MYOT_000007 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. 2 c.179C>G r.(?) p.(Ser60Cys) - pathogenic g.137206519C>G g.137870830C>G - - MYOT_000007 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. 2 c.179C>G r.(?) p.(Ser60Cys) - pathogenic g.137206519C>G g.137870830C>G - - MYOT_000007 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. 2 c.179C>G r.(?) p.(Ser60Cys) - pathogenic g.137206519C>G g.137870830C>G - - MYOT_000007 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. 2 c.179C>G r.(?) p.(Ser60Cys) - pathogenic g.137206519C>G g.137870830C>G - - MYOT_000007 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. 2 c.179C>G r.(?) p.(Ser60Cys) - pathogenic g.137206519C>G g.137870830C>G - - MYOT_000007 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. - c.179C>T r.(?) p.(Ser60Phe) - pathogenic g.137206519C>T g.137870830C>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 r.(?) p.(Ser60Phe) - VUS g.137206519C>T g.137870830C>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 r.(?) p.(Ser60Phe) ACMG likely pathogenic g.137206519C>T g.137870830C>T - - MYOT_000008 ACMG grading: PM2,PP1,PS4,PM1 - - rs121908458 Germline - - - 0 - Andreas Laner
+/. 2 c.179C>T r.(?) p.(Ser60Phe) - pathogenic (dominant) g.137206519C>T g.137870830C>T 459C>T - MYOT_000008 - PubMed: Selcen 2004, OMIM:var0004 - - Germline - - - 0 - Johan den Dunnen
+/. 2 c.179C>T r.(?) p.(Ser60Phe) - pathogenic (dominant) g.137206519C>T g.137870830C>T - - MYOT_000008 - PubMed: Olive 2005 - - Germline - - - 0 - Johan den Dunnen
+/. 2 c.179C>T r.(?) p.(Ser60Phe) - pathogenic (dominant) g.137206519C>T g.137870830C>T - - MYOT_000008 unrelated patients PubMed: McNeill 2009 - - Germline - - - 0 - Johan den Dunnen
+/. 2 c.179C>T r.(?) p.(Ser60Phe) - pathogenic (dominant) g.137206519C>T g.137870830C>T - - MYOT_000008 - PubMed: McNeill 2009 - - Germline - - - 0 - Johan den Dunnen
+/. 2 c.179C>T r.(?) p.(Ser60Phe) - pathogenic (dominant) g.137206519C>T g.137870830C>T - - MYOT_000008 unrelated patients PubMed: McNeill 2009 - - Germline - - - 0 - Johan den Dunnen
+/. 2 c.179C>T r.(?) p.(Ser60Phe) - pathogenic (dominant) g.137206519C>T g.137870830C>T - - MYOT_000008 unrelated patients PubMed: McNeill 2009 - - Germline - - - 0 - Johan den Dunnen
+/. 2 c.179C>T r.(?) p.(Ser60Phe) - pathogenic (dominant) g.137206519C>T g.137870830C>T - - MYOT_000008 unrelated patients PubMed: McNeill 2009 - - Germline - - - 0 - Johan den Dunnen
+/. 2 c.179C>T r.(?) p.(Ser60Phe) - pathogenic (dominant) g.137206519C>T g.137870830C>T - - MYOT_000008 - PubMed: McNeill 2009 - - Germline - - - 0 - Johan den Dunnen
+/. 2 c.179C>T r.(?) p.(Ser60Phe) - pathogenic (dominant) g.137206519C>T g.137870830C>T - - MYOT_000008 - PubMed: McNeill 2009 - - Germline - - - 0 - Johan den Dunnen
+/. 2 c.179C>T r.(?) p.(Ser60Phe) - pathogenic (dominant) g.137206519C>T g.137870830C>T - - MYOT_000008 - PubMed: McNeill 2009 - - Germline - - - 0 - Johan den Dunnen
+/. 2 c.179C>T r.(?) p.(Ser60Phe) - pathogenic (dominant) g.137206519C>T g.137870830C>T - - MYOT_000008 unrelated patients PubMed: McNeill 2009 - - Germline - - - 0 - Johan den Dunnen
+/. 2 c.179C>T r.(?) p.(Ser60Phe) - pathogenic (dominant) g.137206519C>T g.137870830C>T - - MYOT_000008 unrelated patients PubMed: McNeill 2009 - - Germline - - - 0 - Johan den Dunnen
+/. 2 c.179C>T r.(?) p.(Ser60Phe) - pathogenic (dominant) g.137206519C>T g.137870830C>T - - MYOT_000008 - PubMed: McNeill 2009 - - Germline - - - 0 - Johan den Dunnen
+/. 2 c.179C>T r.(?) p.(Ser60Phe) - pathogenic (dominant) g.137206519C>T g.137870830C>T - - MYOT_000008 unrelated patients PubMed: McNeill 2009 - - Germline - - - 0 - Johan den Dunnen
+/. 2 c.179C>T r.(?) p.(Ser60Phe) - pathogenic (dominant) g.137206519C>T g.137870830C>T - - MYOT_000008 unrelated patients PubMed: McNeill 2009 - - Germline - - - 0 - Johan den Dunnen
+/. 2 c.179C>T r.(?) p.(Ser60Phe) - pathogenic (dominant) g.137206519C>T g.137870830C>T - - MYOT_000008 unrelated patients PubMed: Claeys 2008 - - Germline - - - 0 - Johan den Dunnen
+/. 2 c.179C>T r.(?) p.(Ser60Phe) - pathogenic (dominant) g.137206519C>T g.137870830C>T - - MYOT_000008 unrelated patients PubMed: Claeys 2008 - - Germline - - - 0 - Johan den Dunnen
+/. 2 c.179C>T r.(?) p.(Ser60Phe) - pathogenic g.137206519C>T g.137870830C>T - - MYOT_000008 consistent with diagnosis muscular dystrophy PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. 2 c.179C>T r.(?) p.(Ser60Phe) - pathogenic g.137206519C>T g.137870830C>T - - MYOT_000008 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. 2 c.179C>T r.(?) p.(Ser60Phe) - pathogenic g.137206519C>T g.137870830C>T - - MYOT_000008 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. 2 c.179C>T r.(?) p.(Ser60Phe) - pathogenic g.137206519C>T g.137870830C>T - - MYOT_000008 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. 2 c.179C>T r.(?) p.(Ser60Phe) - pathogenic g.137206519C>T g.137870830C>T - - MYOT_000008 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+?/. - c.179C>T r.(?) p.(Ser60Phe) ACMG likely pathogenic g.137206519C>T g.137870830C>T - - MYOT_000008 ACMG grading: PS4,PM2,PP3; Orlacchio et al. 2011. J Neurol 258: 1361; Magariello et al. 2012. Nuscle 45: 919 - - rs121908458 Germline - - - 0 - Andreas Laner
+?/. - c.179C>T r.(?) p.(Ser60Phe) - likely pathogenic g.137206519C>T g.137870830C>T - - MYOT_000008 combination of variants not reported PubMed: Topf 2020 - - Germline - 2/1001 cases - 0 - Johan den Dunnen
?/. - c.194C>T r.(?) p.(Ser65Phe) - VUS g.137206534C>T g.137870845C>T MYOT(NM_006790.2):c.194C>T (p.S65F) - MYOT_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/. - c.208_209insG r.(?) p.(Pro70ArgfsTer21) - likely pathogenic g.137206548_137206549insG g.137870859_137870860insG - - MYOT_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.220= r.(=) p.(Gln74=) - benign g.137206560A>C g.137870871= MYOT(NM_006790.2):c.220A>C (p.K74Q) - MYOT_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.220= r.(=) p.(Gln74=) - benign g.137206560A>C g.137870871= MYOT(NM_006790.2):c.220A>C (p.K74Q) - MYOT_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-?/. - c.220= r.(=) p.(Gln74=) - likely benign g.137206560A>C g.137870871= 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 r.(?) p.(Gln74Lys) - VUS g.137206560C>A - - - MYOT_000013 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Bar 2007 - - Germline no - - 0 - Johan den Dunnen
+/. 2 c.220C>A r.(?) p.(Gln74Lys) - pathogenic (dominant) g.137206560C>A - - - MYOT_000013 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Olive 2005 - - Germline - - - 0 - Johan den Dunnen
+/. 2 c.220C>A r.(?) p.(Gln74Lys) - pathogenic (dominant) g.137206560C>A - - - MYOT_000013 control chomosomes Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Olive 2005 - - Germline - 0/200 - 0 - Johan den Dunnen
-/. 2 c.220C>A r.(?) p.(Gln74Lys) - benign g.137206560C>A - - - MYOT_000013 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Claeys 2008 - - Germline - - - 0 - Johan den Dunnen
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