Full data view for 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.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Allele     

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/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
./. - c.-13375330_*8494211dup - - - Unknown g.123828524_145717285dup - - - SIL1_000024 mosaicism, copy number 3 in 0.38 cells PubMed: DDDS 2015, Journal: DDDS 2015 - - Somatic - - - 0 - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - 0 Decipher - 1 Johan den Dunnen
-/. 1 c.-251A>G benign r.(?) p.(=) Parent #1 g.137203603A>G - - - MYOT_000015 - PubMed: Godley 1999 - - Germline - - - 0 - DNA SEQ, SSCA - - Healthy/Control Pat32 PubMed: Godley 1999 MDL/AML patient - - Italy - - 0 - - 1 Johan den Dunnen
-/. 1 c.-124T>G benign r.(?) p.(=) Parent #1 g.137206217T>G - - - MYOT_000004 sequence comparison - - - Germline - 6/50 - 0 - DNA SEQ - - Healthy/Control - - - - - - - - 0 - - 6 Johan den Dunnen
+/. - c.17G>A pathogenic (dominant) r.(?) p.(Arg6His) Unknown g.137206357G>A - n.17G>A - MYOT_000036 not in 210 control chromosomes PubMed: Reilich 2011 - - Germline/De novo (untested) - - - 0 - DNA SEQ - - LGMD 21336781 PubMed: Reilich 2011 - F - Turkey - - 0 - - 1 Johan den Dunnen
?/. 2 c.34C>G VUS r.(?) p.(Gln12Glu) Parent #1 g.137206374C>G - - - MYOT_000037 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. 2 c.106A>G pathogenic (dominant) r.(?) p.(Lys36Glu) Parent #1 g.137206446A>G - - - MYOT_000012 control chromosomes PubMed: Olive 2005 - - Germline - - - 0 - DNA SEQ - - MFM - PubMed: Olive 2005 - - - Spain - - 0 - - 1 Johan den Dunnen
+/. 2 c.106A>G pathogenic (dominant) r.(?) p.(Lys36Glu) Parent #1 g.137206446A>G - - - MYOT_000012 control chromosomes PubMed: Olive 2005 - - Germline - 0/200 - 0 - DNA SEQ - - Healthy/Control - PubMed: Olive 2005 - - - Spain - - 0 - - 1 Johan den Dunnen
+/. 2 c.116C>T pathogenic (dominant) r.(?) p.(Ser39Phe) Parent #1 g.137206456C>T - - - MYOT_000011 control chromosomes PubMed: Foroud 2005, OMIM:var0006 - - Germline - - BbsI- 0 - DNA SEQ - - MFM - PubMed: Goebel 1974 21 affecteds and 5 at-risk large 5-generation family; genome scan 5q31-linked D5S2117 - - United States - - 0 - - 21 Johan den Dunnen
+/. 2 c.116C>T pathogenic (dominant) r.(?) p.(Ser39Phe) Parent #1 g.137206456C>T - - - MYOT_000011 control chromosomes PubMed: Foroud 2005, OMIM:var0006 - - Germline - 0/270 BbsI- 0 - DNA SEQ - - Healthy/Control - PubMed: Foroud 2005, OMIM:var0006 - - - United States - - 0 - - 1 Johan den Dunnen
+/. 2 c.116C>T pathogenic (dominant) r.(?) p.(Ser39Phe) Unknown g.137206456C>T - - - MYOT_000011 - from website {DBsub-Emory} - - Unknown - - - 0 - DNA SEQ - - ? Emory-? - - - - (United States) - - 0 - - 1 Madhuri Hegde
-?/. - c.120T>A likely benign r.(?) p.(=) Unknown g.137206460T>A - MYOT(NM_006790.2):c.120T>A (p.I40=) - MYOT_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 2 c.122T>C VUS r.(?) p.(Ile41Thr) Parent #1 g.137206462T>C - - - MYOT_000038 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
?/. - c.140G>A VUS r.(?) p.(Cys47Tyr) Unknown g.137206480G>A - MYOT(NM_006790.2):c.140G>A (p.Cys47Tyr) - MYOT_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.149A>G benign r.(?) p.(Gln50Arg) Unknown g.137206489A>G - MYOT(NM_006790.2):c.149A>G (p.Q50R) - MYOT_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. 2 c.149A>G benign r.(?) p.(Gln50Arg) Parent #1 g.137206489A>G - - - MYOT_000010 - PubMed: Godley 1999 - - Germline - - - 0 - DNA SEQ, SSCA - - Healthy/Control Pat38 PubMed: Godley 1999 MDL/AML patient - - Italy - - 0 - - 1 Johan den Dunnen
+/. 2 c.164C>T pathogenic (dominant) r.(?) p.(Ser55Phe) Parent #1 g.137206504C>T - - - MYOT_000003 - PubMed: Hauser 2002, OMIM:var0002 - - Germline - - - 0 - DNA DHPLC - - LGMD - PubMed: Hauser 2002, OMIM:var0002 4 affecteds 3-generation family - - Argentina - - 0 - - 4 Johan den Dunnen
+/. 2 c.164C>T pathogenic (dominant) r.(?) p.(Ser55Phe) Parent #1 g.137206504C>T - - - MYOT_000003 - PubMed: Selcen 2004, OMIM:var0002 - - Germline - - - 0 - DNA SEQ - - MFM Pat6 PubMed: Selcen 2004, OMIM:var0002 affected son and brother F - United States - >81y 0 - - 2 Johan den Dunnen
+/. 2 c.164C>T pathogenic (dominant) r.(?) p.(Ser55Phe) Parent #1 g.137206504C>T - - - MYOT_000003 - PubMed: Olive 2005 - - Germline - - - 0 - DNA SEQ - - MFM - PubMed: Olive 2005 3 unrelated sporadic patients - - Spain - - 0 - - 3 Johan den Dunnen
+/. 2 c.164C>T pathogenic (dominant) r.(?) p.(Ser55Phe) Parent #1 g.137206504C>T - - - MYOT_000003 - PubMed: Olive 2005 - - Germline - - - 0 - DNA SEQ - - MFM Fam1 PubMed: Olive 2005 8 affected 4 generation family - - Spain - - 0 - - 8 Johan den Dunnen
+/. 2 c.164C>T pathogenic (dominant) r.(?) p.(Ser55Phe) Paternal (confirmed) g.137206504C>T - - - MYOT_000003 - PubMed: Berciano 2008 - - Germline - - - 0 - DNA SEQ - - MFM 17698502.II3 PubMed: Berciano 2008 uncle of 17698502.III2 M - Spain - >76y 0 - - 1 Johan den Dunnen
+/. 2 c.164C>T pathogenic (dominant) r.(?) p.(Ser55Phe) Paternal (confirmed) g.137206504C>T - - - MYOT_000003 - PubMed: Berciano 2008 - - Germline - - - 0 - DNA SEQ - - MFM 17698502.III2 PubMed: Berciano 2008 5 generation family; 5 affected (F, 4M), 6 asymptomatic heterozygous carriers ((4F, 2M); niece of 17698502.II3 F - Spain - >61y 0 - - 11 Johan den Dunnen
+/. 2 c.164C>T pathogenic (dominant) r.(?) p.(Ser55Phe) Parent #1 g.137206504C>T - - - MYOT_000003 - PubMed: Berciano 2008 - - Germline - - - 0 - DNA SEQ - - MFM - PubMed: Berciano 2008 5 generation family, 3 affecteds - - Spain - - 0 - - 3 Johan den Dunnen
+/. 2 c.164C>T pathogenic (dominant) r.(?) p.(Ser55Phe) Parent #1 g.137206504C>T - - - MYOT_000003 - PubMed: Berciano 2008 - - Germline - - - 0 - DNA SEQ - - Healthy/Control - PubMed: Berciano 2008 5 generation family, 6 asymptomatic carriers (63y, 50y, 48y, 38y, 27y, 21y) - - - - - 0 - - 6 Johan den Dunnen
+/. 2 c.164C>T pathogenic (dominant) r.(?) p.(Ser55Phe) Paternal (confirmed) g.137206504C>T - 444C>T - MYOT_000003 not in 200 control chromosomes PubMed: Gamez 2009 - - Germline - - - 0 - DNA SEQ - - MFM 19027924-Pat1 PubMed: Gamez 2009 - M - Spain - - 0 - - 1 Johan den Dunnen
+/. 2 c.164C>T pathogenic (dominant) r.(?) p.(Ser55Phe) Parent #1 g.137206504C>T - 444C>T - MYOT_000003 not in 200 control chromosomes PubMed: Gamez 2009 - - Germline - - - 0 - DNA SEQ - - MFM 19027924-Pat1f PubMed: Gamez 2009 father of 19027924-Pat1 M - Spain - 71y 0 - - 1 Johan den Dunnen
+/. 2 c.164C>T pathogenic (dominant) r.(?) p.(Ser55Phe) Paternal (confirmed) g.137206504C>T - 444C>T - MYOT_000003 not in 200 control chromosomes PubMed: Gamez 2009 - - Germline - - - 0 - DNA SEQ - - MFM 19027924-Pat1b PubMed: Gamez 2009 brother of 19027924-Pat1 M - Spain - - 0 - - 1 Johan den Dunnen
+/. 2 c.164C>T pathogenic (dominant) r.(?) p.(Ser55Phe) Parent #1 g.137206504C>T - 444C>T - MYOT_000003 not in 200 control chromosomes PubMed: Gamez 2009 - - Germline - - - 0 - DNA SEQ - - MFM 19027924-Pat1a PubMed: Gamez 2009 aunt of 19027924-Pat1 F - Spain - - 0 - - 1 Johan den Dunnen
+/. 2 c.164C>T pathogenic (dominant) r.(?) p.(Ser55Phe) Parent #1 g.137206504C>T - 444C>T - MYOT_000003 - PubMed: Penisson-Besniers 2006 - - Germline - - - 0 - DNA SEQ - - MFM 16793270-Fam see also PubMed: Penisson-Besniers 1998 3-generation family, 4 affecteds, 2 asymptomatic carriers - - France - - 0 - - 6 Johan den Dunnen
+/. 2 c.(170C>T) pathogenic (dominant) r.170c>u p.Thr57Ile Parent #1 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 - DNA, RNA RT-PCR, SSCA, SEQ - - LGMD mouse PubMed: Garvey 2006 - - - - - - 0 - - 1 Johan den Dunnen
+/. 2 c.170C>T pathogenic (dominant) r.170c>u p.Thr57Ile Parent #1 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 - DNA, RNA RT-PCR, SSCA, SEQ - - LGMD - PubMed: Hauser 2000, OMIM:var0001 large north American family (German descent) - - United States white - 0 - - 1 Johan den Dunnen
+/. 2 c.170C>T pathogenic (dominant) r.(?) p.(Thr57Ile) Parent #1 g.137206510C>T - - - MYOT_000001 - - - rs28937597 Germline - - - 0 - DNA PCR, SEQ - - LGMD - - - M - United States white - 0 - - 1 Tom Winder
+/. 2 c.170C>T pathogenic r.(?) p.(Thr57Ile) Parent #1 g.137206510C>T - - - MYOT_000001 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. 2 c.170C>T pathogenic r.(?) p.(Thr57Ile) Parent #1 g.137206510C>T - - - MYOT_000001 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. 2 c.170C>T pathogenic r.(?) p.(Thr57Ile) Parent #1 g.137206510C>T - - - MYOT_000001 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. 2 c.170C>T pathogenic r.(?) p.(Thr57Ile) Parent #1 g.137206510C>T - - - MYOT_000001 consistent with diagnosis MYOT-related muscular dystrophy PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. 2 c.170C>T pathogenic r.(?) p.(Thr57Ile) Parent #1 g.137206510C>T - - - MYOT_000001 consistent with diagnosis muscular dystrophy PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. 2 c.170C>T pathogenic r.(?) p.(Thr57Ile) Parent #1 g.137206510C>T - - - MYOT_000001 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. 2 c.170C>T pathogenic r.(?) p.(Thr57Ile) Parent #1 g.137206510C>T - - - MYOT_000001 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. 2 c.170C>T pathogenic r.(?) p.(Thr57Ile) Parent #1 g.137206510C>T - - - MYOT_000001 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. 2 c.170C>T pathogenic r.(?) p.(Thr57Ile) Parent #1 g.137206510C>T - - - MYOT_000001 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. 2 c.170C>T pathogenic r.(?) p.(Thr57Ile) Parent #1 g.137206510C>T - - - MYOT_000001 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. 2 c.170C>T pathogenic r.(?) p.(Thr57Ile) Parent #1 g.137206510C>T - - - MYOT_000001 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. 2 c.170C>T pathogenic r.(?) p.(Thr57Ile) Parent #1 g.137206510C>T - - - MYOT_000001 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. - c.179C>G pathogenic r.(?) p.(Ser60Cys) Unknown g.137206519C>G - MYOT(NM_006790.2):c.179C>G (p.S60C) - MYOT_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 2 c.179C>G pathogenic (dominant) r.(?) p.(Ser60Cys) Parent #1 g.137206519C>G - 459C>G - MYOT_000007 - PubMed: Selcen 2004, OMIM:var0003 - - Germline - - - 0 - DNA SEQ - - MFM Pat1 PubMed: Selcen 2004, OMIM:var0003 - F - United States - >53y 0 - - 1 Johan den Dunnen
+/. 2 c.179C>G pathogenic (dominant) r.(?) p.(Ser60Cys) Parent #1 g.137206519C>G - 459C>G - MYOT_000007 - PubMed: Selcen 2004, OMIM:var0003 - - Germline - - - 0 - DNA SEQ - - MFM Pat2 PubMed: Selcen 2004, OMIM:var0003 - M - United States - >61y 0 - - 1 Johan den Dunnen
+/. 2 c.179C>G pathogenic (dominant) r.(?) p.(Ser60Cys) Parent #1 g.137206519C>G - 459C>G - MYOT_000007 - PubMed: Selcen 2004, OMIM:var0003 - - Germline - - - 0 - DNA SEQ - - MFM Pat3 PubMed: Selcen 2004, OMIM:var0003 - M - United States - >76y 0 - - 1 Johan den Dunnen
+/. 2 c.179C>G pathogenic (dominant) r.(?) p.(Ser60Cys) Parent #1 g.137206519C>G - - - MYOT_000007 - PubMed: Olive 2005 - - Germline - - - 0 - DNA SEQ - - MFM - PubMed: Olive 2005 - - - Spain - - 0 - - 1 Johan den Dunnen
+/. 2 c.179C>G pathogenic (dominant) r.(?) p.(Ser60Cys) Parent #1 g.137206519C>G - - - MYOT_000007 - PubMed: Olive 2005 - - Germline - - - 0 - DNA SEQ - - MFM Fam2 PubMed: Olive 2005 6 affecteds 5 generation family F;M - Spain - - 0 - - 6 Johan den Dunnen
+/. 2 c.179C>G pathogenic (dominant) r.(?) p.(Ser60Cys) Parent #1 g.137206519C>G - - - MYOT_000007 - PubMed: Olive 2005 - - Germline - - - 0 - DNA SEQ - - MFM Fam3 PubMed: Olive 2005 2 brothers M - Spain - >81y 0 - - 2 Johan den Dunnen
+/. 2 c.179C>G pathogenic r.(?) p.(Ser60Cys) Parent #1 g.137206519C>G - - - MYOT_000007 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. 2 c.179C>G pathogenic r.(?) p.(Ser60Cys) Parent #1 g.137206519C>G - - - MYOT_000007 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. 2 c.179C>G pathogenic r.(?) p.(Ser60Cys) Parent #1 g.137206519C>G - - - MYOT_000007 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
?/. 2 c.179C>G VUS r.(?) p.(Ser60Cys) Parent #1 g.137206519C>G - - - MYOT_000007 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. 2 c.179C>G pathogenic r.(?) p.(Ser60Cys) Parent #1 g.137206519C>G - - - MYOT_000007 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. 2 c.179C>G pathogenic r.(?) p.(Ser60Cys) Parent #1 g.137206519C>G - - - MYOT_000007 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. 2 c.179C>G pathogenic r.(?) p.(Ser60Cys) Parent #1 g.137206519C>G - - - MYOT_000007 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. 2 c.179C>G pathogenic r.(?) p.(Ser60Cys) Parent #1 g.137206519C>G - - - MYOT_000007 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. 2 c.179C>G pathogenic r.(?) p.(Ser60Cys) Parent #1 g.137206519C>G - - - MYOT_000007 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. 2 c.179C>G pathogenic r.(?) p.(Ser60Cys) Parent #1 g.137206519C>G - - - MYOT_000007 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. 2 c.179C>G pathogenic r.(?) p.(Ser60Cys) Parent #1 g.137206519C>G - - - MYOT_000007 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. - c.179C>T pathogenic r.(?) p.(Ser60Phe) Unknown g.137206519C>T - MYOT(NM_006790.2):c.179C>T (p.S60F) - MYOT_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.179C>T VUS r.(?) p.(Ser60Phe) Unknown g.137206519C>T - MYOT(NM_006790.2):c.179C>T (p.S60F) - MYOT_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.179C>T ACMG: 4 r.(?) p.(Ser60Phe) Unknown g.137206519C>T - - - MYOT_000008 ACMG grading: PM2,PP1,PS4,PM1 - - rs121908458 Germline - - - 0 - DNA SEQ-NG - - - - - - M - Germany - - 0 - - 1 Andreas Laner
+/. 2 c.179C>T pathogenic (dominant) r.(?) p.(Ser60Phe) Parent #1 g.137206519C>T - 459C>T - MYOT_000008 - PubMed: Selcen 2004, OMIM:var0004 - - Germline - - - 0 - DNA SEQ - - MFM Pat4 PubMed: Selcen 2004, OMIM:var0004 - M - United States - >80y 0 - - 1 Johan den Dunnen
+/. 2 c.179C>T pathogenic (dominant) r.(?) p.(Ser60Phe) Parent #1 g.137206519C>T - - - MYOT_000008 - PubMed: Olive 2005 - - Germline - - - 0 - DNA SEQ - - MFM - PubMed: Olive 2005 - - - Spain - - 0 - - 1 Johan den Dunnen
+/. 2 c.179C>T pathogenic (dominant) r.(?) p.(Ser60Phe) Paternal (confirmed) g.137206519C>T - - - MYOT_000008 unrelated patients PubMed: McNeill 2009 - - Germline - - - 0 - DNA SEQ - - MFM 19590214-PatA PubMed: McNeill 2009 daugther of 19590214-PatAf F - (United Kingdom (Great Britain)) - >43y 0 - - 1 Johan den Dunnen
+/. 2 c.179C>T pathogenic (dominant) r.(?) p.(Ser60Phe) Parent #1 g.137206519C>T - - - MYOT_000008 - PubMed: McNeill 2009 - - Germline - - - 0 - DNA SEQ - - MFM 19590214-PatAf PubMed: McNeill 2009 father of 19590214-PatA M - (United Kingdom (Great Britain)) - - 0 - - 1 Johan den Dunnen
+/. 2 c.179C>T pathogenic (dominant) r.(?) p.(Ser60Phe) Parent #1 g.137206519C>T - - - MYOT_000008 unrelated patients PubMed: McNeill 2009 - - Germline - - - 0 - DNA SEQ - - MFM 19590214-PatB PubMed: McNeill 2009 - F - (United Kingdom (Great Britain)) - >57y 0 - - 1 Johan den Dunnen
+/. 2 c.179C>T pathogenic (dominant) r.(?) p.(Ser60Phe) Parent #1 g.137206519C>T - - - MYOT_000008 unrelated patients PubMed: McNeill 2009 - - Germline - - - 0 - DNA SEQ - - MFM 19590214-PatC PubMed: McNeill 2009 - F - (United Kingdom (Great Britain)) - >59y 0 - - 1 Johan den Dunnen
+/. 2 c.179C>T pathogenic (dominant) r.(?) p.(Ser60Phe) Parent #1 g.137206519C>T - - - MYOT_000008 unrelated patients PubMed: McNeill 2009 - - Germline - - - 0 - DNA SEQ - - MFM 19590214-PatD PubMed: McNeill 2009 3-generation family, affected male M - (United Kingdom (Great Britain)) - >68y 0 - - 4 Johan den Dunnen
+/. 2 c.179C>T pathogenic (dominant) r.(?) p.(Ser60Phe) Parent #1 g.137206519C>T - - - MYOT_000008 - PubMed: McNeill 2009 - - Germline - - - 0 - DNA SEQ - - MFM 19590214-PatDb PubMed: McNeill 2009 brother of 19590214-PatD M - (United Kingdom (Great Britain)) - - 0 - - 1 Johan den Dunnen
+/. 2 c.179C>T pathogenic (dominant) r.(?) p.(Ser60Phe) Paternal (confirmed) g.137206519C>T - - - MYOT_000008 - PubMed: McNeill 2009 - - Germline - - - 0 - DNA SEQ - - Healthy/Control 19590214-PatDc1 PubMed: McNeill 2009 child of 19590214-PatD - - (United Kingdom (Great Britain)) - - 0 - - 1 Johan den Dunnen
+/. 2 c.179C>T pathogenic (dominant) r.(?) p.(Ser60Phe) Paternal (confirmed) g.137206519C>T - - - MYOT_000008 - PubMed: McNeill 2009 - - Germline - - - 0 - DNA SEQ - - Healthy/Control 19590214-PatDc2 PubMed: McNeill 2009 child of 19590214-PatD - - (United Kingdom (Great Britain)) - - 0 - - 1 Johan den Dunnen
+/. 2 c.179C>T pathogenic (dominant) r.(?) p.(Ser60Phe) Parent #1 g.137206519C>T - - - MYOT_000008 unrelated patients PubMed: McNeill 2009 - - Germline - - - 0 - DNA SEQ - - MFM 19590214-PatE PubMed: McNeill 2009 - F - (United Kingdom (Great Britain)) - >81y 0 - - 1 Johan den Dunnen
+/. 2 c.179C>T pathogenic (dominant) r.(?) p.(Ser60Phe) Paternal (confirmed) g.137206519C>T - - - MYOT_000008 unrelated patients PubMed: McNeill 2009 - - Germline - - - 0 - DNA SEQ - - MFM 19590214-PatF PubMed: McNeill 2009 - M - (United Kingdom (Great Britain)) - >66y 0 - - 1 Johan den Dunnen
+/. 2 c.179C>T pathogenic (dominant) r.(?) p.(Ser60Phe) Parent #1 g.137206519C>T - - - MYOT_000008 - PubMed: McNeill 2009 - - Germline - - - 0 - DNA SEQ - - MFM 19590214-PatFf PubMed: McNeill 2009 father of 19590214-PatF M - (United Kingdom (Great Britain)) - - 0 - - 1 Johan den Dunnen
+/. 2 c.179C>T pathogenic (dominant) r.(?) p.(Ser60Phe) Parent #1 g.137206519C>T - - - MYOT_000008 unrelated patients PubMed: McNeill 2009 - - Germline - - - 0 - DNA SEQ - - MFM 19590214-PatG PubMed: McNeill 2009 - F - (United Kingdom (Great Britain)) - >67y 0 - - 1 Johan den Dunnen
+/. 2 c.179C>T pathogenic (dominant) r.(?) p.(Ser60Phe) Maternal (inferred) g.137206519C>T - - - MYOT_000008 unrelated patients PubMed: McNeill 2009 - - Germline - - - 0 - DNA SEQ - - MFM 19590214-PatH PubMed: McNeill 2009 mother difficulty walking mid-60s M - (United Kingdom (Great Britain)) - >85y 0 - - 1 Johan den Dunnen
+/. 2 c.179C>T pathogenic (dominant) r.(?) p.(Ser60Phe) Parent #1 g.137206519C>T - - - MYOT_000008 unrelated patients PubMed: Claeys 2008 - - Germline - - - 0 - DNA SEQ - - MFM 18653338-Pat18 PubMed: Claeys 2008 - M - - - >71y 0 - - 1 Johan den Dunnen
+/. 2 c.179C>T pathogenic (dominant) r.(?) p.(Ser60Phe) Parent #1 g.137206519C>T - - - MYOT_000008 unrelated patients PubMed: Claeys 2008 - - Germline - - - 0 - DNA SEQ - - MFM 18653338-Pat19 PubMed: Claeys 2008 - M - - - >62y 0 - - 1 Johan den Dunnen
+/. 2 c.179C>T pathogenic r.(?) p.(Ser60Phe) Parent #1 g.137206519C>T - - - MYOT_000008 consistent with diagnosis muscular dystrophy PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. 2 c.179C>T pathogenic r.(?) p.(Ser60Phe) Parent #1 g.137206519C>T - - - MYOT_000008 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. 2 c.179C>T pathogenic r.(?) p.(Ser60Phe) Parent #1 g.137206519C>T - - - MYOT_000008 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. 2 c.179C>T pathogenic r.(?) p.(Ser60Phe) Parent #1 g.137206519C>T - - - MYOT_000008 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. 2 c.179C>T pathogenic r.(?) p.(Ser60Phe) Parent #1 g.137206519C>T - - - MYOT_000008 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
?/. - c.194C>T VUS r.(?) p.(Ser65Phe) Unknown g.137206534C>T - MYOT(NM_006790.2):c.194C>T (p.S65F) - MYOT_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.220A>C benign r.(?) p.(Lys74Gln) Unknown g.137206560A>C - MYOT(NM_006790.2):c.220A>C (p.K74Q) - MYOT_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.220A>C benign r.(?) p.(Lys74Gln) Unknown g.137206560A>C - MYOT(NM_006790.2):c.220A>C (p.K74Q) - MYOT_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.220A>C likely benign r.(?) p.(Lys74Gln) Unknown g.137206560A>C - MYOT(NM_006790.2):c.220A>C (p.K74Q) - MYOT_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 2 c.220C>A VUS r.(?) p.(Gln74Lys) Both (homozygous) g.137206560C>A - - - MYOT_000013 - PubMed: Bar 2007 - - Germline no - - 0 - DNA SEQ - - MYOP ? PubMed: Bar 2007 - - - France Africa (N) - 0 - - 1 Johan den Dunnen
+/. 2 c.220C>A pathogenic (dominant) r.(?) p.(Gln74Lys) Parent #1 g.137206560C>A - - - MYOT_000013 - PubMed: Olive 2005 - - Germline - - - 0 - DNA SEQ - - MFM - PubMed: Olive 2005 - - - Spain - - 0 - - 1 Johan den Dunnen
+/. 2 c.220C>A pathogenic (dominant) r.(?) p.(Gln74Lys) Parent #1 g.137206560C>A - - - MYOT_000013 control chomosomes PubMed: Olive 2005 - - Germline - 0/200 - 0 - DNA SEQ - - Healthy/Control - PubMed: Olive 2005 - - - Spain - - 0 - - 1 Johan den Dunnen
-/. 2 c.220C>A benign r.(?) p.(Gln74Lys) Unknown g.137206560C>A - - - MYOT_000013 - PubMed: Claeys 2008 - - Germline - - - 0 - DNA SEQ - - MFM 18653338-Pat18 PubMed: Claeys 2008 - M - - - >71y 0 - - 1 Johan den Dunnen
-/. 2 c.220C>A benign r.(?) p.(Gln74Lys) Unknown g.137206560C>A - - - MYOT_000013 - PubMed: Claeys 2008 - - Germline - - - 0 - DNA SEQ - - MFM 18653338-Pat19 PubMed: Claeys 2008 - M - - - >62y 0 - - 1 Johan den Dunnen
-/. 2 c.220C>A benign r.(?) p.(Gln74Lys) Unknown g.137206560C>A - 220A>C - MYOT_000013 - from website {DBsub-Emory} - - Unknown - - - 0 - DNA SEQ - - ? Emory-? - - - - (United States) - - 0 - - 1 Madhuri Hegde
?/. 2 c.257C>A VUS r.(?) p.(Thr86Lys) Parent #1 g.137206597C>A - - - MYOT_000039 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. 2 c.284G>T pathogenic (dominant) r.(?) p.(Ser95Ile) Parent #1 g.137206624G>T - 564G>T - MYOT_000009 - PubMed: Selcen 2004, OMIM:var0005 - - Germline - - - 0 - DNA SEQ - - MFM Pat5 PubMed: Selcen 2004, OMIM:var0005 - M - United States - >87y 0 - - 1 Johan den Dunnen
?/. 2 c.323A>C VUS r.(?) p.(Asn108Thr) Unknown g.137206663A>C - - - MYOT_000018 - from website {DBsub-Emory} - - Unknown - - - 0 - DNA SEQ - - ? Emory-? - - - - (United States) - - 0 - - 1 Madhuri Hegde
?/. 2 c.323A>C VUS r.(?) p.(Asn108Thr) Parent #1 g.137206663A>C - - - MYOT_000018 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
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