Full data view for gene DUX4

This database is one of the gene variant databases from the "Leiden Muscular Dystrophy pages" (LMDp).
Information The variants shown are described using the NM_033178.2 transcript reference sequence.

380 entries on 4 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

Haplotype     

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     
-/. _1_2i c.(?_-1)_(*?_?)[10] D4Z4-10 r.= p.= Parent #1 - benign g.D4Z4[10] - D4Z4-10 - DUX4_000010 - - - - Germline ? - - - - DNA PCRdig, PFGE, Southern - - FSHD2 - PubMed: Larsen 2014 Pyroseq(13%), 4qA[10], 2-generation family, mother FSHD-1, father carrier of SMCHD1 variant but no permissive FSHD allele, brother non-penetrant carrier for FSHD-2 F no Germany - - - - - 1 Mirjam Larsen
-/. _1_2i c.(?_-1)_(*?_?)[10] D4Z4-10 r.= p.= Parent #1 - benign g.D4Z4[10] - D4Z4-10 - DUX4_000010 - - - - Germline ? - - - - DNA PCRdig, PFGE, Southern - - FSHD2 - PubMed: Larsen 2014 Pyroseq(16%), 4qA[10] M no Germany - - - - - 1 Mirjam Larsen
-/. _1_2i c.(?_-1)_(*?_?)[10] D4Z4-10 r.= p.= Parent #1 - benign g.D4Z4[10] - D4Z4-10 - DUX4_000010 - - - - Germline ? - - - - DNA PCRdig, PFGE, Southern - - FSHD2 - PubMed: Winston 2014 SB_Fse(28%), 4qA[10] M - United Kingdom (Great Britain) - - - - - 1 Jincy Winston
-/. _1_2i c.(?_-1)_(*?_?)[11] D4Z4-11 r.= p.= Parent #1 - benign g.D4Z4[11] - D4Z4-11 - DUX4_000011 - - - - Germline ? - - - - DNA PCRdig, PFGE, Southern - - FSHD2 - PubMed: Lemmers 2015 SB_Fse(10%), 4qA[11] M no France - - - - - 1 Richard Lemmers
-/. _1_2i c.(?_-1)_(*?_?)[11] D4Z4-11 r.= p.= Parent #1 - benign g.D4Z4[11] - D4Z4-11 - DUX4_000011 - - - - Germline ? - - - - DNA PCRdig, PFGE, Southern - - FSHD2 - PubMed: Lemmers 2015 SB_Fse(10%), 4qA[11] F no Spain - - - - - 1 Richard Lemmers
-/. _1_2i c.(?_-1)_(*?_?)[11] D4Z4-11 r.= p.= Parent #1 - benign g.D4Z4[11] - D4Z4-11 - DUX4_000011 - - - - Germline ? - - - - DNA PCRdig, PFGE, Southern - - FSHD2 - PubMed: Lemmers 2015 SB_Fse(11%), 4qA[11] M no Slovenia - - - - - 1 Richard Lemmers
-/. _1_2i c.(?_-1)_(*?_?)[11] D4Z4-11 r.= p.= Parent #1 - benign g.D4Z4[11] - D4Z4-11 - DUX4_000011 - - - - Germline ? - - - - DNA PCRdig, PFGE, Southern - - FSHD2 - PubMed: Lemmers 2015 SB_Fse(12%), 4qA[11] F no Spain - - - - - 1 Richard Lemmers
-/. _1_2i c.(?_-1)_(*?_?)[11] D4Z4-11 r.= p.= Parent #1 - benign g.D4Z4[11] - D4Z4-11 - DUX4_000011 - - - - Germline ? - - - - DNA PCRdig, PFGE, Southern - - FSHD2 - PubMed: Lemmers 2015 SB_Fse(12%), 4qA[11] F no Spain - - - - - 1 Richard Lemmers
-/. _1_2i c.(?_-1)_(*?_?)[11] D4Z4-11 r.= p.= Parent #1 - benign g.D4Z4[11] - D4Z4-11 - DUX4_000011 - - - - Germline ? - - - - DNA PCRdig, PFGE, Southern - - FSHD2 - PubMed: Lemmers 2015 SB_Fse(13%), 4qA[11] M no Spain - - - - - 1 Richard Lemmers
-/. _1_2i c.(?_-1)_(*?_?)[11] D4Z4-11 r.= p.= Parent #1 - benign g.D4Z4[11] - D4Z4-11 - DUX4_000011 - - - - Germline ? - - - - DNA PCRdig, PFGE, Southern - - FSHD2 - PubMed: Lemmers 2015 SB_Fse(13%), 4qA[11] M no Spain - - - - - 1 Richard Lemmers
-/. _1_2i c.(?_-1)_(*?_?)[11] D4Z4-11 r.= p.= Parent #1 - benign g.D4Z4[11] - D4Z4-11 - DUX4_000011 - - - - Germline ? - - - - DNA PCRdig, PFGE, Southern - - FSHD2 - PubMed: Lemmers 2015 SB_Fse(14%), 4qA[11] F no Spain - - - - - 1 Richard Lemmers
-/. _1_2i c.(?_-1)_(*?_?)[11] D4Z4-11 r.= p.= Parent #1 - benign g.D4Z4[11] - D4Z4-11 - DUX4_000011 - - - - Germline ? - - - - DNA PCRdig, PFGE, Southern - - Healthy/Control - PubMed: Lemmers 2012, PubMed: Lemmers 2015 SB_Fse(7%), 4qA[11], 2-generation family, mother patient F no Spain - - - - - 1 Richard Lemmers
-/. _1_2i c.(?_-1)_(*?_?)[11] D4Z4-11 r.= p.= Parent #1 - benign g.D4Z4[11] - D4Z4-11 - DUX4_000011 - - - - Germline ? - - - - DNA PCRdig, PFGE, Southern - - FSHD2 - PubMed: Lemmers 2015 SB_Fse(9%), 4qA[11] F no Spain - - - - - 1 Richard Lemmers
-/. _1_2i c.(?_-1)_(*?_?)[11] D4Z4-11 r.= p.= Parent #1 - benign g.D4Z4[11] - D4Z4-11 - DUX4_000011 - - - - Germline ? - - - - DNA PCRdig, PFGE, Southern - - FSHD2 - PubMed: Lemmers 2015 SB_Fse(9%), 4qA[11] M no Spain - - - - - 1 Richard Lemmers
-/. _1_2i c.(?_-1)_(*?_?)[12] D4Z4-12 r.= p.= Parent #1 - benign g.D4Z4[12] - D4Z4-12 - DUX4_000012 - - - - Germline ? - - - - DNA PCRdig, PFGE, Southern - - FSHD2 - PubMed: Lemmers 2012, PubMed: Lemmers 2015 SB_Fse(11%), 4qA[12], 2-generation family, affected daughter F no United States - - - - - 1 Richard Lemmers
-/. _1_2i c.(?_-1)_(*?_?)[12] D4Z4-12 r.= p.= Parent #1 - benign g.D4Z4[12] - D4Z4-12 - DUX4_000012 - - - - Germline ? - - - - DNA PCRdig, PFGE, Southern - - FSHD2 - PubMed: Lemmers 2015 SB_Fse(12%), 4qA[12] F no Canada - - - - - 1 Richard Lemmers
-/. _1_2i c.(?_-1)_(*?_?)[12] D4Z4-12 r.= p.= Parent #1 - benign g.D4Z4[12] - D4Z4-12 - DUX4_000012 - - - - Germline ? - - - - DNA PCRdig, PFGE, Southern - - FSHD2 - PubMed: Lemmers 2015 SB_Fse(12%), 4qA[12] F no France - - - - - 1 Richard Lemmers
-/. _1_2i c.(?_-1)_(*?_?)[12] D4Z4-12 r.= p.= Parent #1 - benign g.D4Z4[12] - D4Z4-12 - DUX4_000012 - - - - Germline ? - - - - DNA PCRdig, PFGE, Southern - - FSHD2 - PubMed: Lemmers 2015 SB_Fse(16%), 4qA[12] F no Korea, South (Republic) - - - - - 1 Richard Lemmers
-/. _1_2i c.(?_-1)_(*?_?)[12] D4Z4-12 r.= p.= Parent #1 - benign g.D4Z4[12] - D4Z4-12 - DUX4_000012 - - - - Germline ? - - - - DNA PCRdig, PFGE, Southern - - FSHD2 - PubMed: Lemmers 2015 SB_Fse(18%), 4qA[12] M no United States - - - - - 1 Richard Lemmers
-/. _1_2i c.(?_-1)_(*?_?)[12] D4Z4-12 r.= p.= Parent #1 - benign g.D4Z4[12] - D4Z4-12 - DUX4_000012 - - - - Germline ? - - - - DNA PCRdig, PFGE, Southern - - FSHD2 - PubMed: Lemmers 2015 SB_Fse(2%), 4qA[12] F no United Kingdom (Great Britain) - - - - - 1 Richard Lemmers
-/. _1_2i c.(?_-1)_(*?_?)[12] D4Z4-12 r.= p.= Parent #1 - benign g.D4Z4[12] - D4Z4-12 - DUX4_000012 - - - - Germline ? - - - - DNA PCRdig, PFGE, Southern - - FSHD2 - PubMed: Lemmers 2015 SB_Fse(20%), 4qA[12] M no United States - - - - - 1 Richard Lemmers
-/. _1_2i c.(?_-1)_(*?_?)[12] D4Z4-12 r.= p.= Parent #1 - benign g.D4Z4[12] - D4Z4-12 - DUX4_000012 - - - - Germline ? - - - - DNA PCRdig, PFGE, Southern - - FSHD2 - PubMed: Lemmers 2015 SB_Fse(22%), 4qA[12] M no Germany - - - - - 1 Richard Lemmers
-/. _1_2i c.(?_-1)_(*?_?)[12] D4Z4-12 r.= p.= Parent #1 - benign g.D4Z4[12] - D4Z4-12 - DUX4_000012 - - - - Germline ? - - - - DNA PCRdig, PFGE, Southern - - FSHD2 - PubMed: Lemmers 2015 SB_Fse(4%), 4qA[12] M no United States - - - - - 1 Richard Lemmers
-/. _1_2i c.(?_-1)_(*?_?)[12] D4Z4-12 r.= p.= Parent #1 - benign g.D4Z4[12] - D4Z4-12 - DUX4_000012 - - - - Germline ? - - - - DNA PCRdig, PFGE, Southern - - FSHD2 - PubMed: Lemmers 2015 SB_Fse(5%), 4qA[12] F no Switzerland - - - - - 1 Richard Lemmers
-/. _1_2i c.(?_-1)_(*?_?)[12] D4Z4-12 r.= p.= Parent #1 - benign g.D4Z4[12] - D4Z4-12 - DUX4_000012 - - - - Germline ? - - - - DNA PCRdig, PFGE, Southern - - FSHD2 - PubMed: Lemmers 2012, PubMed: Lemmers 2015 SB_Fse(7%), 4qA[12], 2-generation family, affected son M no Netherlands - - - - - 1 Richard Lemmers
-/. _1_2i c.(?_-1)_(*?_?)[12] D4Z4-12 r.= p.= Parent #1 - benign g.D4Z4[12] - D4Z4-12 - DUX4_000012 - - - - Germline ? - - - - DNA PCRdig, PFGE, Southern - - FSHD2 - PubMed: Lemmers 2015 SB_Fse(7%), 4qA[12] M no Canada - - - - - 1 Richard Lemmers
-/. _1_2i c.(?_-1)_(*?_?)[12] D4Z4-12 r.= p.= Parent #1 - benign g.D4Z4[12] - D4Z4-12 - DUX4_000012 - - - - Germline ? - - - - DNA PCRdig, PFGE, Southern - - FSHD2 - PubMed: Lemmers 2015 SB_Fse(7%), 4qA[12] F no Netherlands - - - - - 1 Richard Lemmers
-/. _1_2i c.(?_-1)_(*?_?)[12] D4Z4-12 r.= p.= Parent #1 - benign g.D4Z4[12] - D4Z4-12 - DUX4_000012 - - - - Germline ? - - - - DNA PCRdig, PFGE, Southern - - FSHD2 - PubMed: Lemmers 2015 SB_Fse(9%), 4qA[12] F no Netherlands - - - - - 1 Richard Lemmers
-/. _1_2i c.(?_-1)_(*?_?)[13] D4Z4-13 r.= p.= Parent #1 - benign g.D4Z4[13] - D4Z4-13 - DUX4_000013 - - - - Germline ? - - - - DNA PCRdig, PFGE, Southern - - FSHD2 - PubMed: Lemmers 2015 SB_Fse(11%), 4qA[13] M no United States - - - - - 1 Richard Lemmers
-/. _1_2i c.(?_-1)_(*?_?)[13] D4Z4-13 r.= p.= Parent #1 - benign g.D4Z4[13] - D4Z4-13 - DUX4_000013 - - - - Germline ? - - - - DNA PCRdig, PFGE, Southern - - FSHD2 - PubMed: Lemmers 2015 SB_Fse(12%), 4qA[13] M no United Kingdom (Great Britain) - - - - - 1 Richard Lemmers
-/. _1_2i c.(?_-1)_(*?_?)[13] D4Z4-13 r.= p.= Parent #1 - benign g.D4Z4[13] - D4Z4-13 - DUX4_000013 - - - - Germline ? - - - - DNA PCRdig, PFGE, Southern - - FSHD2 - PubMed: Lemmers 2012, PubMed: Lemmers 2015 probably benign variant, SB_Fse(15%), 4qA[13], 2-generation family, affected son M no United States - - - - - 1 Richard Lemmers
-/. _1_2i c.(?_-1)_(*?_?)[13] D4Z4-13 r.= p.= Parent #1 - benign g.D4Z4[13] - D4Z4-13 - DUX4_000013 - - - - Germline ? - - - - DNA PCRdig, PFGE, Southern - - FSHD2 - PubMed: Lemmers 2015 SB_Fse(15%), 4qA[13] M no United Kingdom (Great Britain) Scotland - - - - 1 Richard Lemmers
-/. _1_2i c.(?_-1)_(*?_?)[13] D4Z4-13 r.= p.= Parent #1 - benign g.D4Z4[13] - D4Z4-13 - DUX4_000013 - - - - Germline ? - - - - DNA PCRdig, PFGE, Southern - - FSHD2 - PubMed: Lemmers 2015 SB_Fse(8%), 4qA[13] M no Canada - - - - - 1 Richard Lemmers
-/. _1_2i c.(?_-1)_(*?_?)[13] D4Z4-13 r.= p.= Parent #1 - benign g.D4Z4[13] - D4Z4-13 - DUX4_000013 - - - - Germline ? - - - - DNA PCRdig, PFGE, Southern - - FSHD2 - PubMed: Lemmers 2015 SB_Fse(8%), 4qA[13] F no Netherlands - - - - - 1 Richard Lemmers
-/. _1_2i c.(?_-1)_(*?_?)[14] D4Z4-14 r.= p.= Parent #1 - benign g.D4Z4[14] - D4Z4-14 - DUX4_000014 - - - - Germline ? - - - - DNA PCRdig, PFGE, Southern - - FSHD2 - PubMed: Lemmers 2015 SB_Fse(1%), 4qA[14] F no United States - - - - - 1 Richard Lemmers
-/. _1_2i c.(?_-1)_(*?_?)[14] D4Z4-14 r.= p.= Parent #1 - benign g.D4Z4[14] - D4Z4-14 - DUX4_000014 - - - - Germline ? - - - - DNA PCRdig, PFGE, Southern - - FSHD2 - PubMed: Lemmers 2012, PubMed: Lemmers 2015 SB_Fse(10%), 4qA[14], 2-generation family, affected son M no Italy - - - - - 1 Richard Lemmers
-/. _1_2i c.(?_-1)_(*?_?)[14] D4Z4-14 r.= p.= Parent #1 - benign g.D4Z4[14] - D4Z4-14 - DUX4_000014 - - - - Germline ? - - - - DNA PCRdig, PFGE, Southern - - FSHD2 - PubMed: Lemmers 2015 SB_Fse(10%), 4qA[14] M no Germany - - - - - 1 Richard Lemmers
-/. _1_2i c.(?_-1)_(*?_?)[14] D4Z4-14 r.= p.= Parent #1 - benign g.D4Z4[14] - D4Z4-14 - DUX4_000014 - - - - Germline ? - - - - DNA PCRdig, PFGE, Southern - - FSHD2 - PubMed: Lemmers 2015 SB_Fse(11%), 4qA[14] M no United States - - - - - 1 Richard Lemmers
-/. _1_2i c.(?_-1)_(*?_?)[14] D4Z4-14 r.= p.= Parent #1 - benign g.D4Z4[14] - D4Z4-14 - DUX4_000014 - - - - Germline ? - - - - DNA PCRdig, PFGE, Southern - - FSHD2 - PubMed: Lemmers 2015 SB_Fse(11%), 4qA[14] M no France - - - - - 1 Richard Lemmers
-/. _1_2i c.(?_-1)_(*?_?)[14] D4Z4-14 r.= p.= Parent #1 - benign g.D4Z4[14] - D4Z4-14 - DUX4_000014 - - - - Germline ? - - - - DNA PCRdig, PFGE, Southern - - FSHD2 - PubMed: Lemmers 2012, PubMed: Lemmers 2015 SB_Fse(9%), 4qA[14], 4-generation family, affected mother F no - - - - - - 1 Richard Lemmers
-/. _1_2i c.(?_-1)_(*?_?)[14] D4Z4-14 r.= p.= Parent #1 - benign g.D4Z4[14] - D4Z4-14 - DUX4_000014 - - - - Germline ? - - - - DNA PCRdig, PFGE, Southern - - FSHD2 - PubMed: Lemmers 2015 SB_Fse(14%), 4qA[14] M no Spain - - - - - 1 Richard Lemmers
-/. _1_2i c.(?_-1)_(*?_?)[14] D4Z4-14 r.= p.= Parent #1 - benign g.D4Z4[14] - D4Z4-14 - DUX4_000014 - - - - Germline ? - - - - DNA PCRdig, PFGE, Southern - - FSHD2 - PubMed: Lemmers 2015 SB_Fse(15%), 4qA[14] M no Netherlands - - - - - 1 Richard Lemmers
-/. _1_2i c.(?_-1)_(*?_?)[14] D4Z4-14 r.= p.= Parent #1 - benign g.D4Z4[14] - D4Z4-14 - DUX4_000014 - - - - Germline ? - - - - DNA PCRdig, PFGE, Southern - - FSHD2 - PubMed: Lemmers 2012, PubMed: Lemmers 2015 SB_Fse(16%), 4qA[14], 4-generation family, affected son M no United States - - - - - 1 Richard Lemmers
-/. _1_2i c.(?_-1)_(*?_?)[14] D4Z4-14 r.= p.= Parent #1 - benign g.D4Z4[14] - D4Z4-14 - DUX4_000014 - - - - Germline ? - - - - DNA PCRdig, PFGE, Southern - - FSHD2 - PubMed: Lemmers 2015 SB_Fse(16%), 4qA[14] F no United States - - - - - 1 Richard Lemmers
-/. _1_2i c.(?_-1)_(*?_?)[14] D4Z4-14 r.= p.= Parent #1 - benign g.D4Z4[14] - D4Z4-14 - DUX4_000014 - - - - Germline ? - - - - DNA PCRdig, PFGE, Southern - - FSHD2 - PubMed: Lemmers 2015 SB_Fse(16%), 4qA[14] F no United Kingdom (Great Britain) - - - - - 1 Richard Lemmers
-/. _1_2i c.(?_-1)_(*?_?)[14] D4Z4-14 r.= p.= Parent #1 - benign g.D4Z4[14] - D4Z4-14 - DUX4_000014 - - - - Germline ? - - - - DNA PCRdig, PFGE, Southern - - FSHD2 - PubMed: Lemmers 2015 SB_Fse(4%), 4qA[14] F no Netherlands - - - - - 1 Richard Lemmers
-/. _1_2i c.(?_-1)_(*?_?)[14] D4Z4-14 r.= p.= Parent #1 - benign g.D4Z4[14] - D4Z4-14 - DUX4_000014 - - - - Germline ? - - - - DNA PCRdig, PFGE, Southern - - FSHD2 - PubMed: Lemmers 2015 SB_Fse(5%), 4qA[14] F no Germany - - - - - 1 Richard Lemmers
-/. _1_2i c.(?_-1)_(*?_?)[14] D4Z4-14 r.= p.= Parent #1 - benign g.D4Z4[14] - D4Z4-14 - DUX4_000014 - - - - Germline ? - - - - DNA PCRdig, PFGE, Southern - - FSHD2 - PubMed: Lemmers 2012, PubMed: Lemmers 2015 SB_Fse(7%), 4qA[14], 2-generation family, affected son M no United States - - - - - 1 Richard Lemmers
-/. _1_2i c.(?_-1)_(*?_?)[14] D4Z4-14 r.= p.= Parent #1 - benign g.D4Z4[14] - D4Z4-14 - DUX4_000014 - - - - Germline ? - - - - DNA PCRdig, PFGE, Southern - - FSHD2 - PubMed: Lemmers 2015 SB_Fse(7%), 4qA[14] M no Denmark - - - - - 1 Richard Lemmers
-/. _1_2i c.(?_-1)_(*?_?)[14] D4Z4-14 r.= p.= Parent #1 - benign g.D4Z4[14] - D4Z4-14 - DUX4_000014 - - - - Germline ? - - - - DNA PCRdig, PFGE, Southern - - FSHD2 - PubMed: Lemmers 2012, PubMed: Lemmers 2015 SB_Fse(9%), 4qA[14], 2-generation family, affected son M no Netherlands - - - - - 1 Richard Lemmers
-/. _1_2i c.(?_-1)_(*?_?)[14] D4Z4-14 r.= p.= Parent #1 - benign g.D4Z4[14] - D4Z4-14 - DUX4_000014 - - - - Germline ? - - - - DNA PCRdig, PFGE, Southern - - FSHD2 - PubMed: Lemmers 2012, PubMed: Lemmers 2015 4-generation family, affected granddaughter F no United States - - - - - 1 Richard Lemmers
-/. _1_2i c.(?_-1)_(*?_?)[15] D4Z4-15 r.= p.= Parent #1 - benign g.D4Z4[15] - D4Z4-15 - DUX4_000015 - - - - Germline ? - - - - DNA PCRdig, PFGE, Southern - - FSHD2 - PubMed: Lemmers 2015 SB_Fse(9%), 4qA[15] M no Bulgaria - - - - - 1 Richard Lemmers
-/. _1_2i c.(?_-1)_(*?_?)[16] D4Z4-16 r.= p.= Parent #1 - benign g.D4Z4[16] - D4Z4-16 - DUX4_000016 - - - - Germline ? - - - - DNA PCRdig, PFGE, Southern - - FSHD2 - PubMed: Lemmers 2015 SB_Fse(13%), 4qA[16] F no France - - - - - 1 Richard Lemmers
-/. _1_2i c.(?_-1)_(*?_?)[16] D4Z4-16 r.= p.= Parent #1 - benign g.D4Z4[16] - D4Z4-16 - DUX4_000016 - - - - Germline ? - - - - DNA PCRdig, PFGE, Southern - - FSHD2 - PubMed: Lemmers 2012, PubMed: Lemmers 2015 SB_Fse(16%), 4qA[16], 2-generation family, affected son M no Netherlands - - - - - 1 Richard Lemmers
-/. _1_2i c.(?_-1)_(*?_?)[16] D4Z4-16 r.= p.= Parent #1 - benign g.D4Z4[16] - D4Z4-16 - DUX4_000016 - - - - Germline ? - - - - DNA PCRdig, PFGE, Southern - - FSHD2 - PubMed: Lemmers 2012, PubMed: Lemmers 2015 SB_Fse(17%), 4qA[16], 2-generation family, affected father M no Netherlands - - - - - 1 Richard Lemmers
-/. _1_2i c.(?_-1)_(*?_?)[17] D4Z4-17 r.= p.= Parent #1 - benign g.D4Z4[17] - D4Z4-17 - DUX4_000017 - - - - Germline ? - - - - DNA PCRdig, PFGE, Southern - - FSHD2 - PubMed: Lemmers 2015 SB_Fse(7%), 4qA[17] M no Bulgaria - - - - - 1 Richard Lemmers
-/. _1_2i c.(?_-1)_(*?_?)[18] D4Z4-18 r.= p.= Parent #1 - benign g.D4Z4[18] - D4Z4-18 - DUX4_000018 - - - - Germline ? - - - - DNA PCRdig, PFGE, Southern - - Healthy/Control - PubMed: Lemmers 2012, PubMed: Lemmers 2015 SB_Fse(11%), 4qA[18], 2-generation family, sister patient F no Netherlands - - - - - 1 Richard Lemmers
-/. _1_2i c.(?_-1)_(*?_?)[18] D4Z4-18 r.= p.= Parent #1 - benign g.D4Z4[18] - D4Z4-18 - DUX4_000018 - - - - Germline ? - - - - DNA PCRdig, PFGE, Southern - - Healthy/Control - PubMed: Lemmers 2012, PubMed: Lemmers 2015 SB_Fse(19%), 4qA[18], 2-generation family, daughter patient F no Netherlands - - - - - 1 Richard Lemmers
-/. _1_2i c.(?_-1)_(*?_?)[18] D4Z4-18 r.= p.= Parent #1 - benign g.D4Z4[18] - D4Z4-18 - DUX4_000018 - - - - Germline ? - - - - DNA PCRdig, PFGE, Southern - - FSHD2 - PubMed: Lemmers 2012, PubMed: Lemmers 2015 SB_Fse(19%), 4qA[18], 2-generation family, affected grandson M no Netherlands - - - - - 1 Richard Lemmers
-/. _1_2i c.(?_-1)_(*?_?)[18] D4Z4-18 r.= p.= Parent #1 - benign g.D4Z4[18] - D4Z4-18 - DUX4_000018 - - - - Germline ? - - - - DNA PCRdig, PFGE, Southern - - FSHD2 - PubMed: Lemmers 2012, PubMed: Lemmers 2015 SB_Fse(20%), 4qA[18], 2-generation family, affected son M no Netherlands - - - - - 1 Richard Lemmers
-/. _1_2i c.(?_-1)_(*?_?)[18] D4Z4-18 r.= p.= Parent #1 - benign g.D4Z4[18] - D4Z4-18 - DUX4_000018 - - - - Germline ? - - - - DNA PCRdig, PFGE, Southern - - FSHD2 - PubMed: Lemmers 2015 SB_Fse(24%), 4qA[18] M no Netherlands - - - - - 1 Richard Lemmers
-/. _1_2i c.(?_-1)_(*?_?)[18] D4Z4-18 r.= p.= Parent #1 - benign g.D4Z4[18] - D4Z4-18 - DUX4_000018 - - - - Germline ? - - - - DNA PCRdig, PFGE, Southern - - FSHD2 - PubMed: Lemmers 2012, PubMed: Lemmers 2015 SB_Fse(9%), 4qA[18], 2-generation family, affected son M no France - - - - - 1 Richard Lemmers
-/. _1_2i c.(?_-1)_(*?_?)[19] D4Z4-19 r.= p.= Parent #1 - benign g.D4Z4[19] - D4Z4-19 - DUX4_000019 - - - - Germline ? - - - - DNA PCRdig, PFGE, Southern - - FSHD2 - PubMed: Lemmers 2015 SB_Fse(12%), 4qA[19] M no Spain - - - - - 1 Richard Lemmers
-/. _1_2i c.(?_-1)_(*?_?)[19] D4Z4-19 r.= p.= Parent #1 - benign g.D4Z4[19] - D4Z4-19 - DUX4_000019 - - - - Germline ? - - - - DNA PCRdig, PFGE, Southern - - FSHD2 - PubMed: Lemmers 2012, PubMed: Lemmers 2015 SB_Fse(24%), 4qA[19], 2-generation family, affected daughter F no United States - - - - - 1 Richard Lemmers
-/. _1_2i c.(?_-1)_(*?_?)[19] D4Z4-19 r.= p.= Parent #1 - benign g.D4Z4[19] - D4Z4-19 - DUX4_000019 - - - - Germline ? - - - - DNA PCRdig, PFGE, Southern - - FSHD2 - PubMed: Lemmers 2015 SB_Fse(6%), 4qA[19] F no Denmark - - - - - 1 Richard Lemmers
-/. _1_2i c.(?_-1)_(*?_?)[20] D4Z4-20 r.= p.= Parent #1 - benign g.D4Z4[20] - D4Z4-20 - DUX4_000020 - - - - Germline ? - - - - DNA PCRdig, PFGE, Southern - - Healthy/Control - PubMed: Lemmers 2012, PubMed: Lemmers 2015 SB_Fse(21%), 4qA[20], 2-generation family, son patient M no Netherlands - - - - - 1 Richard Lemmers
-/. _1_2i c.(?_-1)_(*?_?)[26] D4Z4-26 r.= p.= Parent #1 - benign g.D4Z4[26] - D4Z4-26 - DUX4_000026 - - - - Germline ? - - - - DNA PCRdig, PFGE, Southern - - FSHD2 - PubMed: Lemmers 2012, PubMed: Lemmers 2015 SB_Fse(12%), 4qA[26], 2-generation family, affected son M no United States - - - - - 1 Richard Lemmers
-/. _1_2i c.(?_-1)_(*?_?)[28] D4Z4-28 r.= p.= Parent #1 - benign g.D4Z4[28] - D4Z4-28 - DUX4_000028 - - - - Germline ? - - - - DNA PCRdig, PFGE, Southern - - FSHD2 - PubMed: Lemmers 2012, PubMed: Lemmers 2015 2-generation family, affected daughter F no - - - - - - 1 Richard Lemmers
-/. _1_2i c.(?_-1)_(*?_?)[28] D4Z4-28 r.= p.= Parent #1 - benign g.D4Z4[28] - D4Z4-28 - DUX4_000028 - - - - Germline ? - - - - DNA PCRdig, PFGE, Southern - - FSHD2 - PubMed: Lemmers 2012, PubMed: Lemmers 2015 2-generation family, affected son M no - - - - - - 1 Richard Lemmers
-/. _1_2i c.(?_-1)_(*?_?)[29] D4Z4-29 r.= p.= Parent #1 - benign g.D4Z4[29] - D4Z4-29 - DUX4_000029 - - - - Germline ? - - - - DNA PCRdig, PFGE, Southern - - FSHD2 - PubMed: Lemmers 2015 SB_Fse(4%), 4qA[29] M no United States - - - - - 1 Richard Lemmers
-/. _1_2i c.(?_-1)_(*?_?)[36] D4Z4-36 r.= p.= Parent #1 - benign g.D4Z4[36] - D4Z4-36 - DUX4_000036 - - - - Germline ? - - - - DNA PCRdig, PFGE, Southern - - FSHD2 - PubMed: Lemmers 2015 SB_Fse(27%), 4qA[36] M no France - - - - - 1 Richard Lemmers
-/. _1_2i c.(?_-1)_(*?_?)[40] D4Z4-40 r.= p.= Parent #1 - benign g.D4Z4[40] - D4Z4-40 - DUX4_000040 - - - - Germline ? - - - - DNA PCRdig, PFGE, Southern - - FSHD2 - PubMed: Lemmers 2015 SB_Fse(13%), 4qA[40] F no France - - - - - 1 Richard Lemmers
-/. _1_2i c.(?_-1)_(*?_?)[40] D4Z4-40 r.= p.= Parent #1 - benign g.D4Z4[40] - D4Z4-40 - DUX4_000040 - - - - Germline ? - - - - DNA PCRdig, PFGE, Southern - - FSHD2 - PubMed: Lemmers 2015 SB_Fse(15%), 4qA[40] F no France - - - - - 1 Richard Lemmers
-/. _1_2i c.(?_-1)_(*?_?)[47] D4Z4-47 r.= p.= Parent #1 - benign g.D4Z4[47] - D4Z4-47 - DUX4_000047 - - - - Germline ? - - - - DNA PCRdig, PFGE, Southern - - FSHD2 - PubMed: Lemmers 2015 SB_Fse(16%), 4qA[47] F no United States - - - - - 1 Richard Lemmers
-/. _1_2i c.(?_-1)_(*?_?)[50] D4Z4-50 r.= p.= Parent #1 - benign g.D4Z4[50] - D4Z4-50 - DUX4_000050 - - - - Germline ? - - - - DNA PCRdig, PFGE, Southern - - Healthy/Control - PubMed: Lemmers 2012, PubMed: Lemmers 2015 SB_Fse(17%), 4qA[50], 2-generation family, mother of affected son/daughter F no Netherlands - - - - - 1 Richard Lemmers
-/. _1_2i c.(?_-1)_(*?_?)[50] D4Z4-50 r.= p.= Parent #1 - benign g.D4Z4[50] - D4Z4-50 - DUX4_000050 - - - - Germline ? - - - - DNA PCRdig, PFGE, Southern - - FSHD2 - PubMed: Sacconi 2013 SB_Fse(24%), 4qA[50], 3-generation family, affected mother affcted son F no France - - - - - 1 Richard Lemmers
-/. _1_2i c.(?_-1)_(*?_?)[62] D4Z4-62 r.= p.= Parent #1 - benign g.D4Z4[62] - D4Z4-62 - DUX4_000062 - - - - Germline ? - - - - DNA PCRdig, PFGE, Southern - - FSHD2 - PubMed: Sacconi 2013 SB_Fse(10%), 4qA[62], 2-generation family, affected daughter F no France - - - - - 1 Richard Lemmers
-/. _1_2i c.(?_-1)_(*?_?)[68] D4Z4-68 r.= p.= Parent #1 - benign g.D4Z4[68] - D4Z4-68 - DUX4_000068 - - - - Germline ? - - - - DNA PCRdig, PFGE, Southern - - Healthy/Control - PubMed: Lemmers 2015 SB_Fse(13%), 4qA[68] F no France - - - - - 1 Richard Lemmers
-/. _1_2i c.(?_-1)_(*?_?)[71] D4Z4-71 r.= p.= Parent #1 - benign g.D4Z4[71] - D4Z4-71 - DUX4_000071 - - - - Germline ? - - - - DNA PCRdig, PFGE, Southern - - FSHD2 - PubMed: Lemmers 2012, PubMed: Lemmers 2015 2-generation family, affected daughter F no - - - - - - 1 Richard Lemmers
-/. _1_2i c.(?_-1)_(*?_?)[71] D4Z4-71 r.= p.= Parent #1 - benign g.D4Z4[71] - D4Z4-71 - DUX4_000071 - - - - Germline ? - - - - DNA PCRdig, PFGE, Southern - - FSHD2 - PubMed: Lemmers 2012, PubMed: Lemmers 2015 SB_Fse(15%), 4qA[71], 2-generation family, affected mother F no United States - - - - - 1 Richard Lemmers
-/. _1_2i c.(?_-1)_(*?_?)[89] D4Z4-89 r.= p.= Parent #1 - benign g.D4Z4[89] - D4Z4-89 - DUX4_000089 - - - - Germline ? - - - - DNA PCRdig, PFGE, Southern - - Healthy/Control - PubMed: Lemmers 2012, PubMed: Lemmers 2015 SB_Fse(12%), 4qA[89], 2-generation family, father FSHD-2 patient M no Netherlands - - - - - 1 Richard Lemmers
+?/. _1_2i c.(?_-1)_(*?_?)[9] D4Z4-9 r.= p.= Parent #1 - likely pathogenic g.D4Z4[9] - D4Z4-9 - DUX4_000009 - - - - Germline ? - - - - DNA PCRdig, PFGE, Southern - - FSHD2 - PubMed: Sacconi 2013 SB_Fse(11%), 4qA[9], 3-generation family, affected son M no France - - - - - 1 Richard Lemmers
+?/. _1_2i c.(?_-1)_(*?_?)[9] D4Z4-9 r.= p.= Parent #1 - likely pathogenic g.D4Z4[9] - D4Z4-9 - DUX4_000009 - - - - Germline ? - - - - DNA PCRdig, PFGE, Southern - - FSHD - PubMed: Sacconi 2013 SB_Fse(18%), 4qA[9], 3-generation family, affected father affected son M no France - - - - - 1 Richard Lemmers
+?/. _1_2i c.(?_-1)_(*?_?)[9] D4Z4-9 r.= p.= Parent #1 - likely pathogenic g.D4Z4[9] - D4Z4-9 - DUX4_000009 - - - - Germline ? - - - - DNA PCRdig, PFGE, Southern - - FSHD2 - PubMed: Sacconi 2013 SB_Fse(8%), 4qA[9], 2-generation family, affected father affected son/daughter M no France - - - - - 1 Richard Lemmers
+?/. _1_2i c.(?_-1)_(*?_?)[9] D4Z4-9 r.= p.= Parent #1 - likely pathogenic g.D4Z4[9] - D4Z4-9 - DUX4_000009 - - - - Germline ? - - - - DNA PCRdig, PFGE, Southern - - FSHD2 - PubMed: Sacconi 2013 SB_Fse(9%), 4qA[9], 2-generation family, affected son M no France - - - - - 1 Richard Lemmers
+/. _1_2i c.?bsrC - r.= p.= Both (homozygous) - pathogenic g.190988830_190988835rerC - - - DUX4_000000 hypomethylation D4Z4 (11%) Variant Error [ESYNTAX]: This genomic variant has an error (char 35: expected one of '=', or '>'). Please fix this entry and then remove this message. - - - Somatic - - - - 11%, DR1 region (pyrosequencing) DNA PCRdig, PFGE, Southern - - FSHD2 - PubMed: Larsen 2014 Pyroseq(11%), 2-generation family, affected uncle M no Germany - - - - - 2 Mirjam Larsen
+/. _1_2i c.?bsrC - r.= p.= Both (homozygous) - pathogenic g.190988830_190988835rerC - - - DUX4_000000 hypomethylation D4Z4 (12%) Variant Error [ESYNTAX]: This genomic variant has an error (char 35: expected one of '=', or '>'). Please fix this entry and then remove this message. - - - Somatic - - - - 12%, DR1 region (pyrosequencing) DNA PCRdig, PFGE, Southern - - FSHD2 - PubMed: Larsen 2014 Pyroseq(12%) F no Germany - - - - - 1 Mirjam Larsen
+/. _1_2i c.?bsrC - r.= p.= Both (homozygous) - pathogenic g.190988830_190988835rerC - - - DUX4_000000 hypomethylation D4Z4 (13%) Variant Error [ESYNTAX]: This genomic variant has an error (char 35: expected one of '=', or '>'). Please fix this entry and then remove this message. - - - Somatic - - - - 13%, DR1 region (pyrosequencing) DNA PCRdig, PFGE, Southern - - FSHD2 - PubMed: Larsen2014 - F no Germany - - - - - 1 Mirjam Larsen
+/. _1_2i c.?bsrC - r.= p.= Both (homozygous) - pathogenic g.190988830_190988835rerC - - - DUX4_000000 hypomethylation D4Z4 (13%) Variant Error [ESYNTAX]: This genomic variant has an error (char 35: expected one of '=', or '>'). Please fix this entry and then remove this message. - - - Somatic - - - - 13%, DR1 region (pyrosequencing) DNA PCRdig, PFGE, Southern - - FSHD2 - PubMed: Larsen 2014 Pyroseq(13%), 4qA[10], 2-generation family, mother FSHD-1, father carrier of SMCHD1 variant but no permissive FSHD allele, brother non-penetrant carrier for FSHD-2 F no Germany - - - - - 1 Mirjam Larsen
+/. _1_2i c.?bsrC - r.= p.= Both (homozygous) - pathogenic g.190988830_190988835rerC - - - DUX4_000000 hypomethylation D4Z4 (16%) Variant Error [ESYNTAX]: This genomic variant has an error (char 35: expected one of '=', or '>'). Please fix this entry and then remove this message. - - - Somatic - - - - 16%, DR1 region (pyrosequencing) DNA PCRdig, PFGE, Southern - - FSHD2 - PubMed: Larsen 2014 Pyroseq(16%) F no Germany - - - - - 1 Mirjam Larsen
+/. _1_2i c.?bsrC - r.= p.= Both (homozygous) - pathogenic g.190988830_190988835rerC - - - DUX4_000000 hypomethylation D4Z4 (16%) Variant Error [ESYNTAX]: This genomic variant has an error (char 35: expected one of '=', or '>'). Please fix this entry and then remove this message. - - - Somatic - - - - 16%, DR1 region (pyrosequencing) DNA PCRdig, PFGE, Southern - - FSHD2 - PubMed: Larsen 2014 Pyroseq(16%), 4qA[10] M no Germany - - - - - 1 Mirjam Larsen
+/. _1_2i c.?bsrC - r.= p.= Both (homozygous) - pathogenic g.190988830_190988835rerC - - - DUX4_000000 hypomethylation D4Z4 (17%) Variant Error [ESYNTAX]: This genomic variant has an error (char 35: expected one of '=', or '>'). Please fix this entry and then remove this message. - - - Somatic - - - - 17%, DR1 region (pyrosequencing) DNA PCRdig, PFGE, Southern - - FSHD2 - PubMed: Larsen 2014 Pyroseq(17%), 2-generation family, father non-penetrant carrier F no Germany - - - - - 3 Mirjam Larsen
+/. _1_2i c.?bsrC - r.= p.= Both (homozygous) - pathogenic g.190988830_190988835rerC - - - DUX4_000000 hypomethylation D4Z4 (19%) Variant Error [ESYNTAX]: This genomic variant has an error (char 35: expected one of '=', or '>'). Please fix this entry and then remove this message. - - - Somatic - - - - 19%, DR1 region (pyrosequencing) DNA PCRdig, PFGE, Southern - - FSHD2 - PubMed: Larsen 2014 Pyroseq(19%) F no Germany - - - - - 1 Mirjam Larsen
+/. _1_2i c.?bsrC - r.= p.= Both (homozygous) - pathogenic g.190988830_190988835rerC - - - DUX4_000000 hypomethylation D4Z4 (27%) Variant Error [ESYNTAX]: This genomic variant has an error (char 35: expected one of '=', or '>'). Please fix this entry and then remove this message. - - - Somatic - - - - 27%, DR1 region (pyrosequencing) DNA PCRdig, PFGE, Southern - - FSHD2 - PubMed: Larsen 2014 Pyroseq(27%) F no Germany - - - - - 1 Mirjam Larsen
+/. _1_2i c.?bsrC - r.= p.= Both (homozygous) - pathogenic g.190988830_190988835rerC - - - DUX4_000000 hypomethylation D4Z4 (6%) Variant Error [ESYNTAX]: This genomic variant has an error (char 35: expected one of '=', or '>'). Please fix this entry and then remove this message. - - - Somatic - - - - 6%, DR1 region (pyrosequencing) DNA PCRdig, PFGE, Southern - - FSHD2 - PubMed: Larsen 2014 Pyroseq(6%), 3-generation family, affected grandmother, two affected aunts, affected mother F no Germany - - - - - 4 Mirjam Larsen
+/. _1_2i c.?bsrC - r.= p.= Both (homozygous) - pathogenic g.190988830_190988835rerC - - - DUX4_000000 hypomethylation D4Z4 (8%) Variant Error [ESYNTAX]: This genomic variant has an error (char 35: expected one of '=', or '>'). Please fix this entry and then remove this message. - - - Somatic - - - - 8%, DR1 region (pyrosequencing) DNA PCRdig, PFGE, Southern - - FSHD2 - PubMed: Larsen 2014 Pyroseq(8%) M no Germany - - - - - 1 Mirjam Larsen
+/. _1_2i c.?rerC - r.= p.= Both (homozygous) - pathogenic g.190988830_190988835rerC - - - DUX4_000000 hypomethylation D4Z4 (1%) Variant Error [ESYNTAX]: This genomic variant has an error (char 35: expected one of '=', or '>'). Please fix this entry and then remove this message. - - - Somatic - - - - 1%, FseI site (Southern blot) DNA PCRdig, PFGE, Southern - - FSHD2 - PubMed: Lemmers 2015 SB_Fse(1%), 4qA[14] F no United States - - - - - 1 Richard Lemmers
+/. _1_2i c.?rerC - r.= p.= Both (homozygous) - pathogenic g.190988830_190988835rerC - - - DUX4_000000 hypomethylation D4Z4 (10%) Variant Error [ESYNTAX]: This genomic variant has an error (char 35: expected one of '=', or '>'). Please fix this entry and then remove this message. - - - Somatic - - - - 10%, FseI site (Southern blot) DNA PCRdig, PFGE, Southern - - hypometh. - PubMed: Lemmers 2015 SB_Fse(10%) F no France - - - - - 1 Richard Lemmers
+/. _1_2i c.?rerC - r.= p.= Both (homozygous) - pathogenic g.190988830_190988835rerC - - - DUX4_000000 hypomethylation D4Z4 (10%) Variant Error [ESYNTAX]: This genomic variant has an error (char 35: expected one of '=', or '>'). Please fix this entry and then remove this message. - - - Somatic - - - - 10%, FseI site (Southern blot) DNA PCRdig, PFGE, Southern - - FSHD2 - PubMed: Lemmers 2015 SB_Fse(10%), 4qA[11] M no France - - - - - 1 Richard Lemmers
+/. _1_2i c.?rerC - r.= p.= Both (homozygous) - pathogenic g.190988830_190988835rerC - - - DUX4_000000 hypomethylation D4Z4 (10%) Variant Error [ESYNTAX]: This genomic variant has an error (char 35: expected one of '=', or '>'). Please fix this entry and then remove this message. - - - Somatic - - - - 10%, FseI site (Southern blot) DNA PCRdig, PFGE, Southern - - FSHD2 - PubMed: Lemmers 2015 SB_Fse(10%), 4qA[11] F no Spain - - - - - 1 Richard Lemmers
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