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.

191 entries on 2 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.-13375330_*8494211dup - - Unknown - pathogenic g.123828524_145717285dup - - - SIL1_000024 mosaicism, copy number 3 in 0.38 cells PubMed: DDDS 2015, Journal: DDDS 2015 - - Somatic - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - 1 Johan den Dunnen
-/. 1 c.-251A>G r.(?) p.(=) Parent #1 - benign g.137203603A>G g.137867914A>G - - MYOT_000015 - PubMed: Godley 1999 - - Germline - - - - - DNA SEQ, SSCA - - Healthy/Control Pat32 PubMed: Godley 1999 MDL/AML patient - - Italy - - - - - 1 Johan den Dunnen
?/. - c.-214C>T r.(?) p.(=) Unknown - VUS g.137203640C>T g.137867951C>T - - MYOT_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 1 c.-124T>G r.(?) p.(=) Parent #1 - benign g.137206217T>G g.137870528T>G - - MYOT_000004 sequence comparison - - - Germline - 6/50 - - - DNA SEQ - - Healthy/Control - - - - - - - - - - - 6 Johan den Dunnen
+/. - c.17G>A r.(?) p.(Arg6His) Unknown - 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) - - - - - DNA SEQ - - LGMD 21336781 PubMed: Reilich 2011 - F - Turkey - - - - - 1 Johan den Dunnen
?/. 2 c.34C>G r.(?) p.(Gln12Glu) Parent #1 - VUS g.137206374C>G g.137870685C>G - - MYOT_000037 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 2 c.106A>G r.(?) p.(Lys36Glu) Parent #1 - pathogenic (dominant) g.137206446A>G g.137870757A>G - - MYOT_000012 control chromosomes PubMed: Olive 2005 - - Germline - - - - - DNA SEQ - - MFM - PubMed: Olive 2005 - - - Spain - - - - - 1 Johan den Dunnen
+/. 2 c.106A>G r.(?) p.(Lys36Glu) Parent #1 - pathogenic (dominant) g.137206446A>G g.137870757A>G - - MYOT_000012 control chromosomes PubMed: Olive 2005 - - Germline - 0/200 - - - DNA SEQ - - Healthy/Control - PubMed: Olive 2005 - - - Spain - - - - - 1 Johan den Dunnen
+/. 2 c.116C>T r.(?) p.(Ser39Phe) Parent #1 - pathogenic (dominant) g.137206456C>T g.137870767C>T - - MYOT_000011 control chromosomes PubMed: Foroud 2005, OMIM:var0006 - - Germline - - BbsI- - - DNA SEQ - - MFM - PubMed: Goebel 1974 21 affecteds and 5 at-risk large 5-generation family; genome scan 5q31-linked D5S2117 - - United States - - - - - 21 Johan den Dunnen
+/. 2 c.116C>T r.(?) p.(Ser39Phe) Parent #1 - pathogenic (dominant) g.137206456C>T g.137870767C>T - - MYOT_000011 control chromosomes PubMed: Foroud 2005, OMIM:var0006 - - Germline - 0/270 BbsI- - - DNA SEQ - - Healthy/Control - PubMed: Foroud 2005, OMIM:var0006 - - - United States - - - - - 1 Johan den Dunnen
+/. 2 c.116C>T r.(?) p.(Ser39Phe) Unknown - pathogenic (dominant) g.137206456C>T g.137870767C>T - - MYOT_000011 - from website {DBsub-Emory} - - Unknown - - - - - DNA SEQ - - ? Emory-? - - - - (United States) - - - - - 1 Madhuri Hegde
-?/. - c.120T>A r.(?) p.(Ile40=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. 2 c.122T>C r.(?) p.(Ile41Thr) Parent #1 - VUS g.137206462T>C g.137870773T>C - - MYOT_000038 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
?/. - c.140G>A r.(?) p.(Cys47Tyr) Unknown - VUS g.137206480G>A g.137870791G>A - - MYOT_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.149A>G r.(?) p.(Gln50Arg) Unknown - benign g.137206489A>G g.137870800A>G MYOT(NM_001135940.1):c.-197+275A>G (p.(=)), MYOT(NM_006790.2):c.149A>G (p.Q50R) - MYOT_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 2 c.149A>G r.(?) p.(Gln50Arg) Parent #1 - benign g.137206489A>G g.137870800A>G - - MYOT_000010 - PubMed: Godley 1999 - - Germline - - - - - DNA SEQ, SSCA - - Healthy/Control Pat38 PubMed: Godley 1999 MDL/AML patient - - Italy - - - - - 1 Johan den Dunnen
-?/. - c.149A>G r.(?) p.(Gln50Arg) Unknown - likely benign g.137206489A>G - MYOT(NM_001135940.1):c.-197+275A>G (p.(=)), MYOT(NM_006790.2):c.149A>G (p.Q50R) - MYOT_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.163T>C r.(?) p.(Ser55Pro) Parent #1 - pathogenic (dominant) g.137206503T>C g.137870814T>C - - MYOT_000074 56kb region of homozygosity PubMed: Yis 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - Mendeliome LGMD Pat22 PubMed: Yis 2018 - - - Turkey - - - - - 1 Johan den Dunnen
+/. 2 c.164C>T r.(?) p.(Ser55Phe) Parent #1 - pathogenic (dominant) g.137206504C>T g.137870815C>T - - MYOT_000003 - PubMed: Hauser 2002, OMIM:var0002 - - Germline - - - - - DNA DHPLC - - LGMD - PubMed: Hauser 2002, OMIM:var0002 4 affecteds 3-generation family - - Argentina - - - - - 4 Johan den Dunnen
+/. 2 c.164C>T r.(?) p.(Ser55Phe) Parent #1 - pathogenic (dominant) g.137206504C>T g.137870815C>T - - MYOT_000003 - PubMed: Selcen 2004, OMIM:var0002 - - Germline - - - - - DNA SEQ - - MFM Pat6 PubMed: Selcen 2004, OMIM:var0002 affected son and brother F - United States - >81y - - - 2 Johan den Dunnen
+/. 2 c.164C>T r.(?) p.(Ser55Phe) Parent #1 - pathogenic (dominant) g.137206504C>T g.137870815C>T - - MYOT_000003 - PubMed: Olive 2005 - - Germline - - - - - DNA SEQ - - MFM - PubMed: Olive 2005 3 unrelated sporadic patients - - Spain - - - - - 3 Johan den Dunnen
+/. 2 c.164C>T r.(?) p.(Ser55Phe) Parent #1 - pathogenic (dominant) g.137206504C>T g.137870815C>T - - MYOT_000003 - PubMed: Olive 2005 - - Germline - - - - - DNA SEQ - - MFM Fam1 PubMed: Olive 2005 8 affected 4 generation family - - Spain - - - - - 8 Johan den Dunnen
+/. 2 c.164C>T r.(?) p.(Ser55Phe) Paternal (confirmed) - pathogenic (dominant) g.137206504C>T g.137870815C>T - - MYOT_000003 - PubMed: Berciano 2008 - - Germline - - - - - DNA SEQ - - MFM 17698502.II3 PubMed: Berciano 2008 uncle of 17698502.III2 M - Spain - >76y - - - 1 Johan den Dunnen
+/. 2 c.164C>T r.(?) p.(Ser55Phe) Paternal (confirmed) - pathogenic (dominant) g.137206504C>T g.137870815C>T - - MYOT_000003 - PubMed: Berciano 2008 - - Germline - - - - - 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 - - - 11 Johan den Dunnen
+/. 2 c.164C>T r.(?) p.(Ser55Phe) Parent #1 - pathogenic (dominant) g.137206504C>T g.137870815C>T - - MYOT_000003 - PubMed: Berciano 2008 - - Germline - - - - - DNA SEQ - - MFM - PubMed: Berciano 2008 5 generation family, 3 affecteds - - Spain - - - - - 3 Johan den Dunnen
+/. 2 c.164C>T r.(?) p.(Ser55Phe) Parent #1 - pathogenic (dominant) g.137206504C>T g.137870815C>T - - MYOT_000003 - PubMed: Berciano 2008 - - Germline - - - - - DNA SEQ - - Healthy/Control - PubMed: Berciano 2008 5 generation family, 6 asymptomatic carriers (63y, 50y, 48y, 38y, 27y, 21y) - - - - - - - - 6 Johan den Dunnen
+/. 2 c.164C>T r.(?) p.(Ser55Phe) Paternal (confirmed) - pathogenic (dominant) g.137206504C>T g.137870815C>T 444C>T - MYOT_000003 not in 200 control chromosomes PubMed: Gamez 2009 - - Germline - - - - - DNA SEQ - - MFM 19027924-Pat1 PubMed: Gamez 2009 - M - Spain - - - - - 1 Johan den Dunnen
+/. 2 c.164C>T r.(?) p.(Ser55Phe) Parent #1 - pathogenic (dominant) g.137206504C>T g.137870815C>T 444C>T - MYOT_000003 not in 200 control chromosomes PubMed: Gamez 2009 - - Germline - - - - - DNA SEQ - - MFM 19027924-Pat1f PubMed: Gamez 2009 father of 19027924-Pat1 M - Spain - 71y - - - 1 Johan den Dunnen
+/. 2 c.164C>T r.(?) p.(Ser55Phe) Paternal (confirmed) - pathogenic (dominant) g.137206504C>T g.137870815C>T 444C>T - MYOT_000003 not in 200 control chromosomes PubMed: Gamez 2009 - - Germline - - - - - DNA SEQ - - MFM 19027924-Pat1b PubMed: Gamez 2009 brother of 19027924-Pat1 M - Spain - - - - - 1 Johan den Dunnen
+/. 2 c.164C>T r.(?) p.(Ser55Phe) Parent #1 - pathogenic (dominant) g.137206504C>T g.137870815C>T 444C>T - MYOT_000003 not in 200 control chromosomes PubMed: Gamez 2009 - - Germline - - - - - DNA SEQ - - MFM 19027924-Pat1a PubMed: Gamez 2009 aunt of 19027924-Pat1 F - Spain - - - - - 1 Johan den Dunnen
+/. 2 c.164C>T r.(?) p.(Ser55Phe) Parent #1 - pathogenic (dominant) g.137206504C>T g.137870815C>T 444C>T - MYOT_000003 - PubMed: Penisson-Besniers 2006 - - Germline - - - - - DNA SEQ - - MFM 16793270-Fam see also PubMed: Penisson-Besniers 1998 3-generation family, 4 affecteds, 2 asymptomatic carriers - - France - - - - - 6 Johan den Dunnen
+?/. - c.164C>T r.(?) p.(Ser55Phe) Parent #1 - likely pathogenic g.137206504C>T g.137870815C>T - - MYOT_000003 - PubMed: Gonzalez-Quereda 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - 166-gene panel NMD P100 PubMed: Gonzalez-Quereda 2020 patient M - Spain - - - - - 1 Johan den Dunnen
+/. 2 c.(170C>T) r.170c>u p.Thr57Ile Parent #1 - 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 - - - - - DNA, RNA RT-PCR, SSCA, SEQ - - LGMD mouse PubMed: Garvey 2006 - - - - - - - - - 1 Johan den Dunnen
+/. 2 c.170C>T r.170c>u p.Thr57Ile Parent #1 - 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 - - - - - DNA, RNA RT-PCR, SSCA, SEQ - - LGMD - PubMed: Hauser 2000, OMIM:var0001 large north American family (German descent) - - United States white - - - - 1 Johan den Dunnen
+/. 2 c.170C>T r.(?) p.(Thr57Ile) Parent #1 - pathogenic (dominant) g.137206510C>T g.137870821C>T - - MYOT_000001 - - - rs28937597 Germline - - - - - DNA PCR, SEQ - - LGMD - - - M - United States white - - - - 1 Tom Winder
+/. 2 c.170C>T r.(?) p.(Thr57Ile) Parent #1 - pathogenic g.137206510C>T g.137870821C>T - - MYOT_000001 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 2 c.170C>T r.(?) p.(Thr57Ile) Parent #1 - pathogenic g.137206510C>T g.137870821C>T - - MYOT_000001 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 2 c.170C>T r.(?) p.(Thr57Ile) Parent #1 - pathogenic g.137206510C>T g.137870821C>T - - MYOT_000001 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 2 c.170C>T r.(?) p.(Thr57Ile) Parent #1 - pathogenic g.137206510C>T g.137870821C>T - - MYOT_000001 consistent with diagnosis MYOT-related muscular dystrophy PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 2 c.170C>T r.(?) p.(Thr57Ile) Parent #1 - pathogenic g.137206510C>T g.137870821C>T - - MYOT_000001 consistent with diagnosis muscular dystrophy PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 2 c.170C>T r.(?) p.(Thr57Ile) Parent #1 - pathogenic g.137206510C>T g.137870821C>T - - MYOT_000001 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 2 c.170C>T r.(?) p.(Thr57Ile) Parent #1 - pathogenic g.137206510C>T g.137870821C>T - - MYOT_000001 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 2 c.170C>T r.(?) p.(Thr57Ile) Parent #1 - pathogenic g.137206510C>T g.137870821C>T - - MYOT_000001 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 2 c.170C>T r.(?) p.(Thr57Ile) Parent #1 - pathogenic g.137206510C>T g.137870821C>T - - MYOT_000001 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 2 c.170C>T r.(?) p.(Thr57Ile) Parent #1 - pathogenic g.137206510C>T g.137870821C>T - - MYOT_000001 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 2 c.170C>T r.(?) p.(Thr57Ile) Parent #1 - pathogenic g.137206510C>T g.137870821C>T - - MYOT_000001 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 2 c.170C>T r.(?) p.(Thr57Ile) Parent #1 - pathogenic g.137206510C>T g.137870821C>T - - MYOT_000001 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+?/. - c.170del r.(?) p.(Thr57Asnfs*2) Unknown - VUS g.137206510del g.137870821del - - MYOT_000070 In silico tools support pathogenicity (CADD = 33.0) - - - Germline/De novo (untested) - - - - - DNA SEQ-NG - - LGMD1A - - heterozygous patient, family history M - Greece - 49y - - - 1 Helen Latsoudis
+/. - c.179C>G r.(?) p.(Ser60Cys) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.179C>G r.(?) p.(Ser60Cys) Parent #1 - pathogenic (dominant) g.137206519C>G g.137870830C>G 459C>G - MYOT_000007 - PubMed: Selcen 2004, OMIM:var0003 - - Germline - - - - - DNA SEQ - - MFM Pat1 PubMed: Selcen 2004, OMIM:var0003 - F - United States - >53y - - - 1 Johan den Dunnen
+/. 2 c.179C>G r.(?) p.(Ser60Cys) Parent #1 - pathogenic (dominant) g.137206519C>G g.137870830C>G 459C>G - MYOT_000007 - PubMed: Selcen 2004, OMIM:var0003 - - Germline - - - - - DNA SEQ - - MFM Pat2 PubMed: Selcen 2004, OMIM:var0003 - M - United States - >61y - - - 1 Johan den Dunnen
+/. 2 c.179C>G r.(?) p.(Ser60Cys) Parent #1 - pathogenic (dominant) g.137206519C>G g.137870830C>G 459C>G - MYOT_000007 - PubMed: Selcen 2004, OMIM:var0003 - - Germline - - - - - DNA SEQ - - MFM Pat3 PubMed: Selcen 2004, OMIM:var0003 - M - United States - >76y - - - 1 Johan den Dunnen
+/. 2 c.179C>G r.(?) p.(Ser60Cys) Parent #1 - pathogenic (dominant) g.137206519C>G g.137870830C>G - - MYOT_000007 - PubMed: Olive 2005 - - Germline - - - - - DNA SEQ - - MFM - PubMed: Olive 2005 - - - Spain - - - - - 1 Johan den Dunnen
+/. 2 c.179C>G r.(?) p.(Ser60Cys) Parent #1 - pathogenic (dominant) g.137206519C>G g.137870830C>G - - MYOT_000007 - PubMed: Olive 2005 - - Germline - - - - - DNA SEQ - - MFM Fam2 PubMed: Olive 2005 6 affecteds 5 generation family F;M - Spain - - - - - 6 Johan den Dunnen
+/. 2 c.179C>G r.(?) p.(Ser60Cys) Parent #1 - pathogenic (dominant) g.137206519C>G g.137870830C>G - - MYOT_000007 - PubMed: Olive 2005 - - Germline - - - - - DNA SEQ - - MFM Fam3 PubMed: Olive 2005 2 brothers M - Spain - >81y - - - 2 Johan den Dunnen
+/. 2 c.179C>G r.(?) p.(Ser60Cys) Parent #1 - pathogenic g.137206519C>G g.137870830C>G - - MYOT_000007 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 2 c.179C>G r.(?) p.(Ser60Cys) Parent #1 - pathogenic g.137206519C>G g.137870830C>G - - MYOT_000007 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 2 c.179C>G r.(?) p.(Ser60Cys) Parent #1 - pathogenic g.137206519C>G g.137870830C>G - - MYOT_000007 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
?/. 2 c.179C>G r.(?) p.(Ser60Cys) Parent #1 - VUS g.137206519C>G g.137870830C>G - - MYOT_000007 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 2 c.179C>G r.(?) p.(Ser60Cys) Parent #1 - pathogenic g.137206519C>G g.137870830C>G - - MYOT_000007 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 2 c.179C>G r.(?) p.(Ser60Cys) Parent #1 - pathogenic g.137206519C>G g.137870830C>G - - MYOT_000007 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 2 c.179C>G r.(?) p.(Ser60Cys) Parent #1 - pathogenic g.137206519C>G g.137870830C>G - - MYOT_000007 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 2 c.179C>G r.(?) p.(Ser60Cys) Parent #1 - pathogenic g.137206519C>G g.137870830C>G - - MYOT_000007 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 2 c.179C>G r.(?) p.(Ser60Cys) Parent #1 - pathogenic g.137206519C>G g.137870830C>G - - MYOT_000007 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 2 c.179C>G r.(?) p.(Ser60Cys) Parent #1 - pathogenic g.137206519C>G g.137870830C>G - - MYOT_000007 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 2 c.179C>G r.(?) p.(Ser60Cys) Parent #1 - pathogenic g.137206519C>G g.137870830C>G - - MYOT_000007 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+?/. - c.179C>G r.(?) p.(Ser60Cys) Parent #1 - likely pathogenic g.137206519C>G g.137870830C>G - - MYOT_000007 - PubMed: Gonzalez-Quereda 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - 166-gene panel NMD P3 PubMed: Gonzalez-Quereda 2020 patient F - Spain - - - - - 1 Johan den Dunnen
+?/. - c.179C>G r.(?) p.(Ser60Cys) Parent #1 - likely pathogenic g.137206519C>G g.137870830C>G - - MYOT_000007 - PubMed: Gonzalez-Quereda 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - 166-gene panel NMD P133 PubMed: Gonzalez-Quereda 2020 patient F - Spain - - - - - 1 Johan den Dunnen
+/. - c.179C>G r.(?) p.(Ser60Cys) Unknown - pathogenic g.137206519C>G - - - MYOT_000007 - - - rs121908458 Unknown - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.179C>T r.(?) p.(Ser60Phe) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.179C>T r.(?) p.(Ser60Phe) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.179C>T r.(?) p.(Ser60Phe) Unknown ACMG likely pathogenic g.137206519C>T g.137870830C>T - - MYOT_000008 ACMG grading: PM2,PP1,PS4,PM1 - - rs121908458 Germline - - - - - DNA SEQ-NG - - - - - - M - Germany - - - - - 1 Andreas Laner
+/. 2 c.179C>T r.(?) p.(Ser60Phe) Parent #1 - pathogenic (dominant) g.137206519C>T g.137870830C>T 459C>T - MYOT_000008 - PubMed: Selcen 2004, OMIM:var0004 - - Germline - - - - - DNA SEQ - - MFM Pat4 PubMed: Selcen 2004, OMIM:var0004 - M - United States - >80y - - - 1 Johan den Dunnen
+/. 2 c.179C>T r.(?) p.(Ser60Phe) Parent #1 - pathogenic (dominant) g.137206519C>T g.137870830C>T - - MYOT_000008 - PubMed: Olive 2005 - - Germline - - - - - DNA SEQ - - MFM - PubMed: Olive 2005 - - - Spain - - - - - 1 Johan den Dunnen
+/. 2 c.179C>T r.(?) p.(Ser60Phe) Paternal (confirmed) - pathogenic (dominant) g.137206519C>T g.137870830C>T - - MYOT_000008 unrelated patients PubMed: McNeill 2009 - - Germline - - - - - DNA SEQ - - MFM 19590214-PatA PubMed: McNeill 2009 daugther of 19590214-PatAf F - (United Kingdom (Great Britain)) - >43y - - - 1 Johan den Dunnen
+/. 2 c.179C>T r.(?) p.(Ser60Phe) Parent #1 - pathogenic (dominant) g.137206519C>T g.137870830C>T - - MYOT_000008 - PubMed: McNeill 2009 - - Germline - - - - - DNA SEQ - - MFM 19590214-PatAf PubMed: McNeill 2009 father of 19590214-PatA M - (United Kingdom (Great Britain)) - - - - - 1 Johan den Dunnen
+/. 2 c.179C>T r.(?) p.(Ser60Phe) Parent #1 - pathogenic (dominant) g.137206519C>T g.137870830C>T - - MYOT_000008 unrelated patients PubMed: McNeill 2009 - - Germline - - - - - DNA SEQ - - MFM 19590214-PatB PubMed: McNeill 2009 - F - (United Kingdom (Great Britain)) - >57y - - - 1 Johan den Dunnen
+/. 2 c.179C>T r.(?) p.(Ser60Phe) Parent #1 - pathogenic (dominant) g.137206519C>T g.137870830C>T - - MYOT_000008 unrelated patients PubMed: McNeill 2009 - - Germline - - - - - DNA SEQ - - MFM 19590214-PatC PubMed: McNeill 2009 - F - (United Kingdom (Great Britain)) - >59y - - - 1 Johan den Dunnen
+/. 2 c.179C>T r.(?) p.(Ser60Phe) Parent #1 - pathogenic (dominant) g.137206519C>T g.137870830C>T - - MYOT_000008 unrelated patients PubMed: McNeill 2009 - - Germline - - - - - DNA SEQ - - MFM 19590214-PatD PubMed: McNeill 2009 3-generation family, affected male M - (United Kingdom (Great Britain)) - >68y - - - 4 Johan den Dunnen
+/. 2 c.179C>T r.(?) p.(Ser60Phe) Parent #1 - pathogenic (dominant) g.137206519C>T g.137870830C>T - - MYOT_000008 - PubMed: McNeill 2009 - - Germline - - - - - DNA SEQ - - MFM 19590214-PatDb PubMed: McNeill 2009 brother of 19590214-PatD M - (United Kingdom (Great Britain)) - - - - - 1 Johan den Dunnen
+/. 2 c.179C>T r.(?) p.(Ser60Phe) Paternal (confirmed) - pathogenic (dominant) g.137206519C>T g.137870830C>T - - MYOT_000008 - PubMed: McNeill 2009 - - Germline - - - - - DNA SEQ - - Healthy/Control 19590214-PatDc1 PubMed: McNeill 2009 child of 19590214-PatD - - (United Kingdom (Great Britain)) - - - - - 1 Johan den Dunnen
+/. 2 c.179C>T r.(?) p.(Ser60Phe) Paternal (confirmed) - pathogenic (dominant) g.137206519C>T g.137870830C>T - - MYOT_000008 - PubMed: McNeill 2009 - - Germline - - - - - DNA SEQ - - Healthy/Control 19590214-PatDc2 PubMed: McNeill 2009 child of 19590214-PatD - - (United Kingdom (Great Britain)) - - - - - 1 Johan den Dunnen
+/. 2 c.179C>T r.(?) p.(Ser60Phe) Parent #1 - pathogenic (dominant) g.137206519C>T g.137870830C>T - - MYOT_000008 unrelated patients PubMed: McNeill 2009 - - Germline - - - - - DNA SEQ - - MFM 19590214-PatE PubMed: McNeill 2009 - F - (United Kingdom (Great Britain)) - >81y - - - 1 Johan den Dunnen
+/. 2 c.179C>T r.(?) p.(Ser60Phe) Paternal (confirmed) - pathogenic (dominant) g.137206519C>T g.137870830C>T - - MYOT_000008 unrelated patients PubMed: McNeill 2009 - - Germline - - - - - DNA SEQ - - MFM 19590214-PatF PubMed: McNeill 2009 - M - (United Kingdom (Great Britain)) - >66y - - - 1 Johan den Dunnen
+/. 2 c.179C>T r.(?) p.(Ser60Phe) Parent #1 - pathogenic (dominant) g.137206519C>T g.137870830C>T - - MYOT_000008 - PubMed: McNeill 2009 - - Germline - - - - - DNA SEQ - - MFM 19590214-PatFf PubMed: McNeill 2009 father of 19590214-PatF M - (United Kingdom (Great Britain)) - - - - - 1 Johan den Dunnen
+/. 2 c.179C>T r.(?) p.(Ser60Phe) Parent #1 - pathogenic (dominant) g.137206519C>T g.137870830C>T - - MYOT_000008 unrelated patients PubMed: McNeill 2009 - - Germline - - - - - DNA SEQ - - MFM 19590214-PatG PubMed: McNeill 2009 - F - (United Kingdom (Great Britain)) - >67y - - - 1 Johan den Dunnen
+/. 2 c.179C>T r.(?) p.(Ser60Phe) Maternal (inferred) - pathogenic (dominant) g.137206519C>T g.137870830C>T - - MYOT_000008 unrelated patients PubMed: McNeill 2009 - - Germline - - - - - DNA SEQ - - MFM 19590214-PatH PubMed: McNeill 2009 mother difficulty walking mid-60s M - (United Kingdom (Great Britain)) - >85y - - - 1 Johan den Dunnen
+/. 2 c.179C>T r.(?) p.(Ser60Phe) Parent #1 - pathogenic (dominant) g.137206519C>T g.137870830C>T - - MYOT_000008 unrelated patients PubMed: Claeys 2008 - - Germline - - - - - DNA SEQ - - MFM 18653338-Pat18 PubMed: Claeys 2008 - M - - - >71y - - - 1 Johan den Dunnen
+/. 2 c.179C>T r.(?) p.(Ser60Phe) Parent #1 - pathogenic (dominant) g.137206519C>T g.137870830C>T - - MYOT_000008 unrelated patients PubMed: Claeys 2008 - - Germline - - - - - DNA SEQ - - MFM 18653338-Pat19 PubMed: Claeys 2008 - M - - - >62y - - - 1 Johan den Dunnen
+/. 2 c.179C>T r.(?) p.(Ser60Phe) Parent #1 - pathogenic g.137206519C>T g.137870830C>T - - MYOT_000008 consistent with diagnosis muscular dystrophy PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 2 c.179C>T r.(?) p.(Ser60Phe) Parent #1 - pathogenic g.137206519C>T g.137870830C>T - - MYOT_000008 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 2 c.179C>T r.(?) p.(Ser60Phe) Parent #1 - pathogenic g.137206519C>T g.137870830C>T - - MYOT_000008 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 2 c.179C>T r.(?) p.(Ser60Phe) Parent #1 - pathogenic g.137206519C>T g.137870830C>T - - MYOT_000008 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 2 c.179C>T r.(?) p.(Ser60Phe) Parent #1 - pathogenic g.137206519C>T g.137870830C>T - - MYOT_000008 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+?/. - c.179C>T r.(?) p.(Ser60Phe) Unknown 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 - - - - - DNA SEQ-NG-S - - ? - - - M - Germany - - - - - 1 Andreas Laner
+?/. - c.179C>T r.(?) p.(Ser60Phe) Unknown - likely pathogenic g.137206519C>T g.137870830C>T - - MYOT_000008 combination of variants not reported PubMed: Topf 2020 - - Germline - 2/1001 cases - - - DNA SEQ, SEQ-NG - WES LGMD - PubMed: Topf 2020 analysis 1001 patients with unexplained limb-girdle weakness - - - - - - - - 2 Johan den Dunnen
+?/. - c.179C>T r.(?) p.(Ser60Phe) Parent #1 - likely pathogenic g.137206519C>T g.137870830C>T - - MYOT_000008 - PubMed: Gonzalez-Quereda 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - 166-gene panel NMD P193 PubMed: Gonzalez-Quereda 2020 patient M - Spain - - - - - 1 Johan den Dunnen
?/. - c.194C>T r.(?) p.(Ser65Phe) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.208_209insG r.(?) p.(Pro70ArgfsTer21) Unknown - likely pathogenic g.137206548_137206549insG g.137870859_137870860insG - - MYOT_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.220= r.(=) p.(Gln74=) Unknown - benign g.137206560A>C g.137870871= MYOT(NM_006790.2):c.220A>C (p.K74Q), MYOT(NM_006790.3):c.220A>C (p.K74Q) - MYOT_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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