Full data view for gene CSTB

Information The variants shown are described using the NM_000100.3 transcript reference sequence.

141 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     
+/. _1 - r.(=)|red p.(=)|red Paternal (confirmed) - pathogenic (recessive) g.45196325_45196360insN[(600)] g.43776444_43776479insN[(600)] A4(600) - CSTB_000000 - PubMed: Lafreniere 1997 - - Germline - - - - - DNA SEQ, Southern, SSCA - - EPM Fam7 PubMed: Lafreniere 1997 2-generation family, affected brother/sister, unaffected heterozygous carrier parents F;M - Iran - - - - - 2 Johan den Dunnen
+/. _1 - r.(=)|red p.(=)|red Paternal (confirmed) - pathogenic (recessive) g.45196325_45196360insN[(650)] g.43776444_43776479insN[(650)] A3(650) - CSTB_000000 - PubMed: Lafreniere 1997 - - Germline - - - - - DNA SEQ, Southern, SSCA - - EPM Fam15 PubMed: Lafreniere 1997 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M - Hungary - - - - - 2 Johan den Dunnen
+/. _1 - r.(=)|red p.(=)|red Both (homozygous) - pathogenic (recessive) g.45196325_45196360insN[(600_900)] g.43776444_43776479insN[(600_900)] A1(nd) - CSTB_000000 - PubMed: Lafreniere 1997 - - Germline - - - - - DNA SEQ, Southern, SSCA - - EPM Fam16 PubMed: Lafreniere 1997 - M - Finland - - - - - 1 Johan den Dunnen
+/. _1 - r.(=)|red p.(=)|red Both (homozygous) - pathogenic (recessive) g.45196325_45196360insN[(600_900)] g.43776444_43776479insN[(600_900)] A1(nd) - CSTB_000000 - PubMed: Lafreniere 1997 - - Germline - - - - - DNA SEQ, Southern, SSCA - - EPM Fam17 PubMed: Lafreniere 1997 - M - Finland - - - - - 1 Johan den Dunnen
+/. _1 - r.(=)|red p.(=)|red Parent #1 - pathogenic (recessive) g.45196325_45196360insN[(600_900)] g.43776444_43776479insN[(600_900)] A1(nd) - CSTB_000000 - PubMed: Lafreniere 1997 - - Germline - - - - - DNA SEQ, Southern, SSCA - - EPM Fam18 PubMed: Lafreniere 1997 - F - Finland - - - - - 1 Johan den Dunnen
+/. _1 - r.(=)|red p.(=)|red Parent #1 - pathogenic (recessive) g.45196325_45196360insN[(600)] g.43776444_43776479insN[(600)] A4(600) - CSTB_000000 - PubMed: Lafreniere 1997 - - Germline - - - - - DNA SEQ, Southern, SSCA - - EPM Fam19 PubMed: Lafreniere 1997 - - - United States - - - - - 1 Johan den Dunnen
+/. _1 - r.(=)|red p.(=)|red Parent #1 - pathogenic (recessive) g.45196325_45196360insN[(700)] g.43776444_43776479insN[(700)] A1(700) - CSTB_000000 - PubMed: Lafreniere 1997 - - Germline - - - - - DNA SEQ, Southern, SSCA - - EPM Fam20 PubMed: Lafreniere 1997 - - - United States - - - - - 1 Johan den Dunnen
+/. _1 - r.(=)|red p.(=)|red Maternal (confirmed) - pathogenic (recessive) g.45196325_45196360insN[(750)] g.43776444_43776479insN[(750)] A4(750) - CSTB_000000 - PubMed: Lafreniere 1997 - - Germline - - - - - DNA SEQ, Southern, SSCA - - EPM Fam7 PubMed: Lafreniere 1997 2-generation family, affected brother/sister, unaffected heterozygous carrier parents F;M - Iran - - - - - 2 Johan den Dunnen
+/. _1 - r.(=)|red p.(=)|red Parent #2 - pathogenic (recessive) g.45196325_45196360insN[?] g.43776444_43776479insN[?] expanded - CSTB_000000 - PubMed: Canafoglia 2012 - - Germline - - - - - DNA SEQ, Southern - - EPM Pat1 PubMed: Canafoglia 2012 - M - Italy - - - - - 1 Johan den Dunnen
+/. _1 - r.(=)|red p.(=)|red Parent #2 - pathogenic (recessive) g.45196325_45196360insN[?] g.43776444_43776479insN[?] expanded - CSTB_000000 - PubMed: Canafoglia 2012 - - Germline - - - - - DNA SEQ, Southern - - EPM Pat2 PubMed: Canafoglia 2012 2-generation family, 2 affected brothers M - Spain - - - - - 2 Johan den Dunnen
+/. _1 - r.(=)|red p.(=)|red Parent #2 - pathogenic (recessive) g.45196325_45196360insN[?] g.43776444_43776479insN[?] expanded - CSTB_000000 - PubMed: Canafoglia 2012 - - Germline - - - - - DNA SEQ, Southern - - EPM Pat3 PubMed: Canafoglia 2012 brother M - Spain - - - - - 1 Johan den Dunnen
+/. _1 - r.(=)|red p.(=)|red Parent #2 - pathogenic (recessive) g.45196325_45196360insN[?] g.43776444_43776479insN[?] expanded - CSTB_000000 - PubMed: Canafoglia 2012 - - Germline - - - - - DNA SEQ, Southern - - EPM Pat4 PubMed: Canafoglia 2012 - M - Italy - - - - - 1 Johan den Dunnen
+/. _1 - r.(=)|red p.(=)|red Parent #2 - pathogenic (recessive) g.45196325_45196360insN[?] g.43776444_43776479insN[?] expanded - CSTB_000000 - PubMed: Canafoglia 2012 - - Germline - - - - - DNA SEQ, Southern - - EPM Pat5 PubMed: Canafoglia 2012 - M - Italy - - - - - 1 Johan den Dunnen
+/. _1 - r.(=)|red p.(=)|red Parent #2 - pathogenic (recessive) g.45196325_45196360insN[?] g.43776444_43776479insN[?] expanded - CSTB_000000 - PubMed: Canafoglia 2012 - - Germline - - - - - DNA SEQ, Southern - - EPM Pat6 PubMed: Canafoglia 2012 - M - Italy - - - - - 1 Johan den Dunnen
+/. _1 - r.(=)|red p.(=)|red Parent #2 - pathogenic (recessive) g.45196325_45196360insN[?] g.43776444_43776479insN[?] expanded - CSTB_000000 - PubMed: Canafoglia 2012 - - Germline - - - - - DNA SEQ, Southern - - EPM Pat7 PubMed: Canafoglia 2012 2-generation family, 2 affected brothers M - Italy - - - - - 2 Johan den Dunnen
+/. _1 - r.(=)|red p.(=)|red Parent #2 - pathogenic (recessive) g.45196325_45196360insN[?] g.43776444_43776479insN[?] expanded - CSTB_000000 - PubMed: Canafoglia 2012 - - Germline - - - - - DNA SEQ, Southern - - EPM Pat8 PubMed: Canafoglia 2012 brother M - Italy - - - - - 1 Johan den Dunnen
+/. _1 - r.(=)|red p.(=)|red Both (homozygous) - pathogenic (recessive) g.45196325_45196360insN[?] g.43776444_43776479insN[?] expanded - CSTB_000000 - PubMed: Canafoglia 2012 - - Germline - - - - - DNA SEQ, Southern - - EPM patients PubMed: Canafoglia 2012 40 homozygous individuals - - Italy - - - - - 40 Johan den Dunnen
+/. _1 - r.(=)|red p.(=)|red Paternal (confirmed) - pathogenic (recessive) g.45196325_45196360insN[900] g.43776444_43776479insN[900] A5(850), [78] - CSTB_000000 - PubMed: Lafreniere 1997, PubMed: Larson 1999 - - Germline - - - - - DNA SEQ, Southern, SSCA - - EPM Fam6 PubMed: Lafreniere 1997 3-generation family, 1 affected, unaffected heterozygous carrier parents M yes Japan - - - - - 1 Johan den Dunnen
-/. 1 c.-12G>A r.(?) p.(=) Parent #1 - benign g.45196162C>T g.43776281C>T - - CSTB_000026 - - - - Germline - - - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
+/. _1 - r.=|red p.=|red Unknown - pathogenic (recessive) g.45196325_45196360[30_125] g.43776444_43776479[30_125] -209_-174[30_125] - CSTB_000000 dodecamer repeat expansion CCCGCCCCGCGC[N]; variant leads to reduced CSTB expression - - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
-?/. _1 - r.(=) p.(=) Unknown - likely benign g.45196349_45196360del g.43776468_43776479del -185_-174del, (CCCCGCCCCGCG)2 - CSTB_000034 - PubMed: Lalioti 1997 - - Germline - 0.33 - - - DNA SEQ, SSCA - - Healthy/Control control PubMed: Lalioti 1997 - - - France - - - - - 1 Johan den Dunnen
+/. _1 - r.(=)|red p.(=)|red Parent #1 - pathogenic (recessive) g.45196325_45196360insN[(864_876)] g.43776444_43776479insN[(864_876)] A1(nd), [75] [76] - CSTB_000000 one case [75];[76], one [76];[77] alleles PubMed: Lafreniere 1997, PubMed: Larson 1999 - - Germline - - - - - DNA SEQ, Southern, SSCA - - EPM Fam1 PubMed: Lafreniere 1997 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M - Finland - - - - - 2 Johan den Dunnen
+/. _1 - r.(=)|red p.(=)|red Paternal (inferred) - pathogenic (recessive) g.45196325_45196360insN[(888_900)] g.43776444_43776479insN[(888_900)] A1(900), [77] [78] - CSTB_000000 one case [77], one [78] allele PubMed: Lafreniere 1997, PubMed: Larson 1999 - - Germline - - - - - DNA SEQ, Southern, SSCA - - EPM Fam2 PubMed: Lafreniere 1997 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M - Finland - - - - - 2 Johan den Dunnen
+/. _1 - r.(=)|red p.(=)|red Maternal (confirmed) - pathogenic (recessive) g.45196325_45196360insN[(660_684)] g.43776444_43776479insN[(660_684)] A1(nd), [58] [60] - CSTB_000000 one case [58], one [60] allele (mother [57]) PubMed: Lafreniere 1997, PubMed: Larson 1999 - - Germline - - - - - DNA SEQ, Southern, SSCA - - EPM Fam3 PubMed: Lafreniere 1997 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M - Finland - - - - - 2 Johan den Dunnen
+/. _1 - r.(=)|red p.(=)|red Paternal (confirmed) - pathogenic (recessive) g.45196325_45196360insN[864] g.43776444_43776479insN[864] A1(nd), [75] - CSTB_000000 - PubMed: Lafreniere 1997, PubMed: Larson 1999 - - Germline - - - - - DNA SEQ, Southern, SSCA - - EPM Fam4 PubMed: Lafreniere 1997 3-generation family, 2 affected brothers, unaffected heterozygous carrier parents M - Finland - - - - - 2 Johan den Dunnen
+/. _1 - r.(=)|red p.(=)|red Maternal (confirmed) - pathogenic (recessive) g.45196325_45196360insN[852] g.43776444_43776479insN[852] A5(850) [74] - CSTB_000000 maternal allele [75] PubMed: Lafreniere 1997, PubMed: Larson 1999 - - Germline - - - - - DNA SEQ, Southern, SSCA - - EPM Fam5 PubMed: Lafreniere 1997 2-generation family, affected brother/sister, unaffected heterozygous carrier parents F;M - Canada French-Canadian - - - - 2 Johan den Dunnen
+/. _1 - r.(=)|red p.(=)|red Maternal (confirmed) - pathogenic (recessive) g.45196325_45196360insN[864] g.43776444_43776479insN[864] A7(900), [75] - CSTB_000000 - PubMed: Lafreniere 1997, PubMed: Larson 1999 - - Germline - - - - - DNA SEQ, Southern, SSCA - - EPM Fam6 PubMed: Lafreniere 1997 3-generation family, 1 affected, unaffected heterozygous carrier parents M yes Japan - - - - - 1 Johan den Dunnen
+/. _1 - r.(=)|red p.(=)|red Maternal (confirmed) - pathogenic (recessive) g.45196325_45196360insN[756] g.43776444_43776479insN[756] A4(650), [66] - CSTB_000000 - PubMed: Lafreniere 1997, PubMed: Larson 1999 - - Germline - - - - - DNA SEQ, Southern, SSCA - - EPM Fam8 PubMed: Lafreniere 1997 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Italy - - - - - 1 Johan den Dunnen
+/. _1 - r.(=)|red p.(=)|red Paternal (confirmed) - pathogenic (recessive) g.45196325_45196360insN[(756_780)] g.43776444_43776479insN[(756_780)] A1(650), [68], [66] - CSTB_000000 one case [68], one case [66] allele (father [66]) PubMed: Lafreniere 1997, PubMed: Larson 1999 - - Germline - - - - - DNA SEQ, Southern, SSCA - - EPM Fam10 PubMed: Lafreniere 1997 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M - Cuba - - - - - 2 Johan den Dunnen
+/. _1 - r.(=)|red p.(=)|red Paternal (confirmed) - pathogenic (recessive) g.45196325_45196360insN[816] g.43776444_43776479insN[816] A1(700), [71] - CSTB_000000 - PubMed: Lafreniere 1997, PubMed: Larson 1999 - - Germline - - - - - DNA SEQ, Southern, SSCA - - EPM Fam11 PubMed: Lafreniere 1997 3-generation family, 4 affected sibs (F, 3M), unaffected heterozygous carrier parents F;M - Denmark - - - - - 4 Johan den Dunnen
+/. _1 - r.(=)|red p.(=)|red Paternal (confirmed) - pathogenic (recessive) g.45196325_45196360insN[540] g.43776444_43776479insN[540] A8(700) [48] - CSTB_000000 - PubMed: Lafreniere 1997, PubMed: Larson 1999 - - Germline - - - - - DNA SEQ, Southern, SSCA - - EPM Fam12 PubMed: Lafreniere 1997 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Canada French-Canadian;Ireland - - - - 1 Johan den Dunnen
+/. _1 - r.(=)|red p.(=)|red Paternal (confirmed) - pathogenic (recessive) g.45196325_45196360insN[852 g.43776444_43776479insN[852] A2(750), [74] - CSTB_000000 paternal allele [75] PubMed: Lafreniere 1997, PubMed: Larson 1999 - - Germline - - - - - DNA SEQ, Southern, SSCA - - EPM Fam14 PubMed: Lafreniere 1997 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Denmark - - - - - 1 Johan den Dunnen
+/. _1 - r.(=)|red p.(=)|red Parent #2 - pathogenic (recessive) g.45196325_45196360insN[(876_888)] g.43776444_43776479insN[(876_888)] A1(900), [76] [77] - CSTB_000000 one case [75];[76], one [76];[77] alleles PubMed: Lafreniere 1997, PubMed: Larson 1999 - - Germline - - - - - DNA SEQ, Southern, SSCA - - EPM Fam1 PubMed: Lafreniere 1997 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M - Finland - - - - - 2 Johan den Dunnen
+/. _1 - r.(=)|red p.(=)|red Maternal (inferred) - pathogenic (recessive) g.45196325_45196360insN[792)] g.43776444_43776479insN[792] A1(750), [69] - CSTB_000000 - PubMed: Lafreniere 1997, PubMed: Larson 1999 - - Germline - - - - - DNA SEQ, Southern, SSCA - - EPM Fam2 PubMed: Lafreniere 1997 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M - Finland - - - - - 2 Johan den Dunnen
+/. _1 - r.(=)|red p.(=)|red Maternal (confirmed) - pathogenic (recessive) g.45196325_45196360insN[(840_864)] g.43776444_43776479insN[(840_864)] A1(850), [73] [75] - CSTB_000000 1 case [73], one [75] allele )mother [74]) PubMed: Lafreniere 1997, PubMed: Larson 1999 - - Germline - - - - - DNA SEQ, Southern, SSCA - - EPM Fam4 PubMed: Lafreniere 1997 3-generation family, 2 affected brothers, unaffected heterozygous carrier parents M - Finland - - - - - 2 Johan den Dunnen
+/. _1 - r.(=)|red p.(=)|red Maternal (confirmed) - pathogenic (recessive) g.45196325_45196360insN[648] g.43776444_43776479insN[648] A6(nd), [57] - CSTB_000000 - PubMed: Lafreniere 1997, PubMed: Larson 1999 - - Germline - - - - - DNA SEQ, Southern, SSCA - - EPM Fam9 PubMed: Lafreniere 1997 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Germany;England;France - - - - - 1 Johan den Dunnen
+/. _1 - r.(=)|red p.(=)|red Maternal (confirmed) - pathogenic (recessive) g.45196325_45196360insN[(804_816)] g.43776444_43776479insN[(804_816)] A2(nd), [70] [71] - CSTB_000000 3 cases [71], one case [70] allele (mother [71]) PubMed: Lafreniere 1997, PubMed: Larson 1999 - - Germline - - - - - DNA SEQ, Southern, SSCA - - EPM Fam11 PubMed: Lafreniere 1997 3-generation family, 4 affected sibs (F, 3M), unaffected heterozygous carrier parents F;M - Denmark - - - - - 4 Johan den Dunnen
+/. _1 - r.(=)|red p.(=)|red Maternal (confirmed) - pathogenic (recessive) g.45196325_45196360insN[(756_768)] g.43776444_43776479insN[(756_768)] A1(650), [66] [67] - CSTB_000000 2 cases [66], one [67 allele (maternal allele [67]) PubMed: Lafreniere 1997, PubMed: Larson 1999 - - Germline - - - - - DNA SEQ, Southern, SSCA - - EPM Fam13 PubMed: Lafreniere 1997 2-generation family, 3 affected sibs (F, 2M), unaffected heterozygous carrier parents M - Poland - - - - - 3 Johan den Dunnen
+/. _1 - r.(=)|red p.(=)|red Maternal (confirmed) - pathogenic (recessive) g.45196325_45196360insN[(650)] g.43776444_43776479insN[(650)] A1(650) - CSTB_000000 - PubMed: Lafreniere 1997 - - Germline - - - - - DNA SEQ, Southern, SSCA - - EPM Fam15 PubMed: Lafreniere 1997 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M - Hungary - - - - - 2 Johan den Dunnen
+/. _1 - r.(=) p.(=) Parent #2 - pathogenic (recessive) g.45196325_45196360insN[?] g.43776444_43776479insN[?] expanded repeat - CSTB_000000 - PubMed: De Haan 2004 - - Germline - - - - - DNA SEQ - - ? patient PubMed: De Haan 2004 - - - Netherlands - - - - - 1 Johan den Dunnen
+/. _1 - r.(=) p.(=) Parent #2 - pathogenic (recessive) g.45196325_45196360insN[?] g.43776444_43776479insN[?] expanded repeat - CSTB_000000 - PubMed: De Haan 2004 - - Germline - - - - - DNA SEQ - - ? patient PubMed: De Haan 2004 - - - Netherlands - - - - - 1 Johan den Dunnen
+/. _1 - r.(=) p.(=) Both (homozygous) - pathogenic (recessive) g.45196325_45196360insN[?] g.43776444_43776479insN[?] expanded repeat - CSTB_000000 - PubMed: De Haan 2004 - - Germline - - - - - DNA SEQ - - ? patient PubMed: De Haan 2004 - - - Netherlands - - - - - 1 Johan den Dunnen
+/. _1 - r.(=) p.(=) Both (homozygous) - pathogenic (recessive) g.45196325_45196360insN[?] g.43776444_43776479insN[?] expanded repeat - CSTB_000000 - PubMed: De Haan 2004 - - Germline - - - - - DNA SEQ - - ? patient PubMed: De Haan 2004 - - - Netherlands Iran - - - - 1 Johan den Dunnen
+/. _1 - r.(=) p.(=) Both (homozygous) - pathogenic (recessive) g.45196325_45196360insN[?] g.43776444_43776479insN[?] expanded repeat - CSTB_000000 - PubMed: De Haan 2004 - - Germline - - - - - DNA SEQ - - ? patient PubMed: De Haan 2004 - - - Netherlands Turkey - - - - 1 Johan den Dunnen
+/. _1 - r.(=) p.(=) Both (homozygous) - pathogenic (recessive) g.45196325_45196360insN[?] g.43776444_43776479insN[?] expanded repeat - CSTB_000000 - PubMed: De Haan 2004 - - Germline - - - - - DNA SEQ - - ? patient PubMed: De Haan 2004 - - - Netherlands Morocco - - - - 1 Johan den Dunnen
+/. _1 - r.(=) p.(=) Both (homozygous) - pathogenic (recessive) g.45196325_45196360insN[?] g.43776444_43776479insN[?] expanded repeat - CSTB_000000 - PubMed: De Haan 2004 - - Germline - - - - - DNA SEQ - - ? patient PubMed: De Haan 2004 - - - Netherlands Greece - - - - 1 Johan den Dunnen
+/. _1 - r.(=) p.(=) Both (homozygous) - pathogenic (recessive) g.45196325_45196360insN[(552_612)] g.43776444_43776479insN[(552_612)] repeat[49_54] - CSTB_000000 consanguineous family with different lengths of the expansion (instability) PubMed: Mazarib 2001 - - Germline yes - - - - DNA Southern - - EPM family PubMed: Mazarib 2001 7-generation family, 7 affected (3F, 4M), unaffected heterozygous carrier parents/relatives F;M yes Israel Arab-Galilee - - - - 7 Johan den Dunnen
+/. _1 - r.(=) p.(=) Parent #1 - pathogenic (recessive) g.45196325_45196360insN[(624_984)] g.43776444_43776479insN[(624_984)] expanded repeat - CSTB_000000 - PubMed: Joensuu 2007 - - Germline - - - - - DNA SEQ - - ? PatE PubMed: Joensuu 2007 - - - Finland - - - - - 1 Johan den Dunnen
+/. _1 - r.(=) p.(=) Parent #1 - pathogenic (recessive) g.45196325_45196360insN[(624_984)] g.43776444_43776479insN[(624_984)] expanded repeat - CSTB_000000 - PubMed: Joensuu 2007 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - ? PatJ PubMed: Joensuu 2007 - - - Italy - - - - - 1 Johan den Dunnen
+/. _1 - r.(=) p.(=) Parent #2 - pathogenic (recessive) g.45196325_45196360insN[(500)] g.43776444_43776479insN[(500)] expansion 500bp - CSTB_000000 - PubMed: Kagitani-Shimono 2002 - - Germline - - - - - DNA SEQ, Southern - - EPM Pat1 PubMed: Kagitani-Shimono 2002 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Japan - - - - - 1 Johan den Dunnen
+/. _1 - r.(=) p.(=) Both (homozygous) - pathogenic (recessive) g.45196325_45196360insN[(800)] g.43776444_43776479insN[(800)] expansion 800bp - CSTB_000000 - PubMed: Kagitani-Shimono 2002 - - Germline - - - - - DNA SEQ, Southern - - EPM Pat2 PubMed: Kagitani-Shimono 2002 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Japan - - - - - 1 Johan den Dunnen
+/. _1 - r.(=)|red p.(=)|red Paternal (inferred) - pathogenic (recessive) g.45196325_45196360insN[768] g.43776444_43776479insN[768] A4(650), [67] - CSTB_000000 - PubMed: Lafreniere 1997, PubMed: Larson 1999 - - Germline - - - - - DNA SEQ, Southern, SSCA - - EPM Fam8 PubMed: Lafreniere 1997 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Italy - - - - - 1 Johan den Dunnen
+/. _1 - r.(=)|red p.(=)|red Paternal (confirmed) - pathogenic (recessive) g.45196325_45196360insN[900] g.43776444_43776479insN[900] A5(850), [78] - CSTB_000000 paternal allele [77] PubMed: Lafreniere 1997, PubMed: Larson 1999 - - Germline - - - - - DNA SEQ, Southern, SSCA - - EPM Fam5 PubMed: Lafreniere 1997 2-generation family, affected brother/sister, unaffected heterozygous carrier parents F;M - Canada French-Canadian - - - - 2 Johan den Dunnen
+/. _1 - r.(=)|red p.(=)|red Paternal (confirmed) - pathogenic (recessive) g.45196325_45196360insN[(816_840)] g.43776444_43776479insN[(816_840)] A5(850), [71] [73] - CSTB_000000 one case [71], one [73] allele PubMed: Lafreniere 1997, PubMed: Larson 1999 - - Germline - - - - - DNA SEQ, Southern, SSCA - - EPM Fam3 PubMed: Lafreniere 1997 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M - Finland - - - - - 2 Johan den Dunnen
+/. _1 - r.(=) p.(=) Maternal (confirmed) - pathogenic (recessive) g.45196325_45196360insN[(744_756)] g.43776444_43776479insN[(744_756)] [66] [65] - CSTB_000000 one case [56];[66], one [58];[65] allele PubMed: Larson 1999 - - Germline - - - - - DNA SEQ, Southern - - EPM Fam7Pat51/52 PubMed: Larson 1999 family, 2 affected - - (United States) - - - - - 1 Johan den Dunnen
+/. _1 - r.(=) p.(=) Maternal (confirmed) - pathogenic (recessive) g.45196325_45196360insN[(636_660)] g.43776444_43776479insN[(636_660)] [56] [58] - CSTB_000000 one case [56];[66], one [58];[65] allele PubMed: Larson 1999 - - Germline - - - - - DNA SEQ, Southern - - EPM Fam7Pat51/52 PubMed: Larson 1999 family, 2 affected - - (United States) - - - - - 1 Johan den Dunnen
+/. _1 - r.(=) p.(=) Parent #1 - pathogenic (recessive) g.45196325_45196360insN[708] g.43776444_43776479insN[708] [62] - CSTB_000000 one case [62];[65], one [62];[66] alleles PubMed: Larson 1999 - - Germline - - - - - DNA SEQ, Southern - - EPM Fam15Pat142/143 PubMed: Larson 1999 family, 2 affected - - (United States) - - - - - 2 Johan den Dunnen
+/. _1 - r.(=) p.(=) Parent #2 - pathogenic (recessive) g.45196325_45196360insN[(744_756)] g.43776444_43776479insN[(744_756)] [65] [66] - CSTB_000000 one case [62];[65], one [62];[66] alleles PubMed: Larson 1999 - - Germline - - - - - DNA SEQ, Southern - - EPM Fam15Pat142/143 PubMed: Larson 1999 family, 2 affected - - (United States) - - - - - 2 Johan den Dunnen
+/. _1 - r.(=) p.(=) Parent #1 - pathogenic (recessive) g.45196325_45196360insN[816] g.43776444_43776479insN[816] [71] - CSTB_000000 - PubMed: Larson 1999 - - Germline - - - - - DNA PCR, SEQ - - EPM Fam16Pat27 PubMed: Larson 1999 - - - (United States) - - - - - 1 Johan den Dunnen
+/. _1 - r.(=) p.(=) Parent #2 - pathogenic (recessive) g.45196325_45196360insN[924] g.43776444_43776479insN[924] [80] - CSTB_000000 - PubMed: Larson 1999 - - Germline - - - - - DNA PCR, SEQ - - EPM Fam16Pat27 PubMed: Larson 1999 - - - (United States) - - - - - 1 Johan den Dunnen
+/. _1 - r.(=) p.(=) Parent #1 - pathogenic (recessive) g.45196325_45196360insN[720] g.43776444_43776479insN[720] [63] - CSTB_000000 - PubMed: Larson 1999 - - Germline - - - - - DNA PCR, SEQ - - EPM Fam17Pat163 PubMed: Larson 1999 - - - (United States) - - - - - 1 Johan den Dunnen
+/. _1 - r.(=) p.(=) Parent #2 - pathogenic (recessive) g.45196325_45196360insN[900] g.43776444_43776479insN[900] [78] - CSTB_000000 - PubMed: Larson 1999 - - Germline - - - - - DNA PCR, SEQ - - EPM Fam17Pat163 PubMed: Larson 1999 - - - (United States) - - - - - 1 Johan den Dunnen
+/. _1 - r.(=) p.(=) Maternal (confirmed) - pathogenic (recessive) g.45196325_45196360insN[(1500)] g.43776444_43776479insN[(1500)] 1.5 kb expansion - CSTB_000000 - PubMed: Nokelainen 2000 - - Germline - - - - - DNA Southern - - ? patient PubMed: Nokelainen 2000 2-generation family, 1 affected (DM + EPM), DM affected father F - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. _1 - r.(=) p.(=) Paternal (confirmed) - pathogenic (recessive) g.45196325_45196360insN[(1600)] g.43776444_43776479insN[(1600)] 1.6kb expansion - CSTB_000000 - PubMed: Nokelainen 2000 - - Germline - - - - - DNA Southern - - ? patient PubMed: Nokelainen 2000 2-generation family, 1 affected (DM + EPM), DM affected father F - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+?/. 1 c.10G>C r.(10g>c) p.(Gly4Arg) Unknown - likely pathogenic (recessive) g.45196141C>G g.43776260C>G - - CSTB_000003 - - - rs74315443 SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.10G>C r.(?) p.(Gly4Arg) Both (homozygous) - pathogenic g.45196141C>G g.43776260C>G - - CSTB_000003 - PubMed: Tarailo-Graovac 2016, Journal: Tarailo-Graovac 2016 - - Germline yes - - - - DNA SEQ, SEQ-NG - - EPM1A - PubMed: Tarailo-Graovac 2016, Journal: Tarailo-Graovac 2016 2-generation family, 2 affected sibs, unaffected heterozygous carrier parents - - United States - - - - - 2 Johan den Dunnen
+/. - c.10G>C r.(?) p.(Gly4Arg) Both (homozygous) - pathogenic (recessive) g.45196141C>G - 426G>C - CSTB_000003 - PubMed: Lalioti 1997 - - Germline - - - - - DNA SEQ, SSCA - - EPM GVA01 PubMed: Lalioti 1997 - - - Morocco - - - - - 1 Johan den Dunnen
-?/. - c.15G>T r.(?) p.(=) Parent #1 - likely benign g.45196136C>A - 431G>T - CSTB_000032 - PubMed: Lalioti 1997 - - Germline - - - - - DNA SEQ, SSCA - - EPM GVA10 PubMed: Lalioti 1997 - - - Spain - - - - - 1 Johan den Dunnen
?/. - c.34G>A r.(?) p.(Ala12Thr) Unknown - VUS g.45196117C>T g.43776236C>T CSTB(NM_000100.3):c.34G>A (p.A12T) - CSTB_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 1 c.43G>T r.(43g>u) p.(Glu15*) Unknown - VUS g.45196108C>A g.43776227C>A - - CSTB_000014 - - - rs11553836 SUMMARY record - unknown - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.66G>A r.spl p.0 Unknown - pathogenic (recessive) g.45196085C>T g.43776204C>T - - CSTB_000010 - - - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.66G>A r.[66g>a,[66g>a;65_66ins66+1_66+364]] p.0 Both (homozygous) - pathogenic (recessive) g.45196085C>T - - - CSTB_000010 not in 150 controls; both transcripts about equal amount PubMed: Pinto 2012 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - EPM patient PubMed: Pinto 2012 - M no Portugal - - - - - 1 Johan den Dunnen
+/. 1i c.67-1G>C r.spl? p.? Unknown - pathogenic (recessive) g.45194641C>G g.43774760C>G - - CSTB_000001 - - - rs147484110 SUMMARY record - 2/6503 NHLBI - - - - - - - - - - - - - - - - - - - - -
+/. 1i c.67-1G>C r.spl? p.? Unknown - pathogenic g.45194641C>G g.43774760C>G CSTB(NM_000100.3):c.67-1G>C - CSTB_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1i c.67-1G>C r.0 p.0 Parent #1 - pathogenic (recessive) g.45194641C>G - - - CSTB_000001 - PubMed: Pennacchio 1996 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - EPM Fam2 PubMed: Pennacchio 1996 2-generation family, 1 affected, unaffected heterozygous carrier parents M - United States - - - - - 1 Johan den Dunnen
+/. 1i c.67-1G>C r.spl p.? Parent #1 - pathogenic (recessive) g.45194641C>G - 1924G>C - CSTB_000001 - PubMed: Lalioti 1997 - - Germline - - - - - DNA SEQ, SSCA - - EPM GVA03 PubMed: Lalioti 1997 - - - France - - - - - 1 Johan den Dunnen
+/. 1i c.67-1G>C r.spl p.? Both (homozygous) - pathogenic (recessive) g.45194641C>G - 1924G>C - CSTB_000001 - PubMed: Lalioti 1997 - - Germline - - - - - DNA SEQ, SSCA - - EPM GVA02 PubMed: Lalioti 1997 - - - France - - - - - 1 Johan den Dunnen
+/. 1i c.67-1G>C r.spl p.? Parent #1 - pathogenic (recessive) g.45194641C>G - 1924G>C - CSTB_000001 - PubMed: Lalioti 1997 - - Germline - - - - - DNA SEQ, SSCA - - EPM GVA04 PubMed: Lalioti 1997 - - - Finland;France - - - - - 1 Johan den Dunnen
+/. 1i c.67-1G>C r.spl p.? Parent #1 - pathogenic (recessive) g.45194641C>G - 1924G>C - CSTB_000001 - PubMed: Lalioti 1997 - - Germline - - - - - DNA SEQ, SSCA - - EPM GVA05 PubMed: Lalioti 1997 - - - France - - - - - 1 Johan den Dunnen
+/. 1i c.67-1G>C r.spl p.? Paternal (confirmed) - pathogenic (recessive) g.45194641C>G g.43774760C>G - - CSTB_000001 - PubMed: Lafreniere 1997 - - Germline - - - - - DNA SEQ, Southern, SSCA - - EPM Fam9 PubMed: Lafreniere 1997 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Germany;England;France - - - - - 1 Johan den Dunnen
+/. 1i c.67-1G>C r.spl p.? Paternal (confirmed) - pathogenic (recessive) g.45194641C>G g.43774760C>G - - CSTB_000001 - PubMed: Lafreniere 1997 - - Germline - - - - - DNA SEQ, Southern, SSCA - - EPM Fam13 PubMed: Lafreniere 1997 2-generation family, 3 affected sibs (F, 2M), unaffected heterozygous carrier parents M - Poland - - - - - 3 Johan den Dunnen
+/. 1i c.67-1G>C r.spl p.? Maternal (confirmed) - pathogenic (recessive) g.45194641C>G g.43774760C>G - - CSTB_000001 - PubMed: Lafreniere 1997 - - Germline - - - - - DNA SEQ, Southern, SSCA - - EPM Fam10 PubMed: Lafreniere 1997 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M - Cuba - - - - - 2 Johan den Dunnen
+/. 1i c.67-1G>C r.spl p.? Maternal (confirmed) - pathogenic (recessive) g.45194641C>G g.43774760C>G - - CSTB_000001 - PubMed: Lafreniere 1997 - - Germline - - - - - DNA SEQ, Southern, SSCA - - EPM Fam12 PubMed: Lafreniere 1997 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Canada French-Canadian;Ireland - - - - 1 Johan den Dunnen
+/. 1i c.67-1G>C r.spl p.? Maternal (confirmed) - pathogenic (recessive) g.45194641C>G g.43774760C>G - - CSTB_000001 - PubMed: Lafreniere 1997 - - Germline - - - - - DNA SEQ, Southern, SSCA - - EPM Fam14 PubMed: Lafreniere 1997 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Denmark - - - - - 1 Johan den Dunnen
+/. 1i c.67-1G>C r.spl p.? Parent #2 - pathogenic (recessive) g.45194641C>G g.43774760C>G - - CSTB_000001 - PubMed: Lafreniere 1997 - - Germline - - - - - DNA SEQ, Southern, SSCA - - EPM Fam20 PubMed: Lafreniere 1997 - - - United States - - - - - 1 Johan den Dunnen
+/. 1i c.67-1G>C r.67_168del p.Val23_Lys56del Parent #1 - pathogenic (recessive) g.45194641C>G g.43774760C>G - - CSTB_000001 - PubMed: Canafoglia 2012 - - Germline - - - - - DNA SEQ, Southern - - EPM Pat1 PubMed: Canafoglia 2012 - M - Italy - - - - - 1 Johan den Dunnen
+/. 1i c.67-1G>C r.67_168del p.Val23_Lys56del Parent #1 - pathogenic (recessive) g.45194641C>G g.43774760C>G - - CSTB_000001 - PubMed: Canafoglia 2012 - - Germline - - - - - DNA SEQ, Southern - - EPM Pat2 PubMed: Canafoglia 2012 2-generation family, 2 affected brothers M - Spain - - - - - 2 Johan den Dunnen
+/. 1i c.67-1G>C r.67_168del p.Val23_Lys56del Parent #1 - pathogenic (recessive) g.45194641C>G g.43774760C>G - - CSTB_000001 - PubMed: Canafoglia 2012 - - Germline - - - - - DNA SEQ, Southern - - EPM Pat3 PubMed: Canafoglia 2012 brother M - Spain - - - - - 1 Johan den Dunnen
?/. 2 c.121G>A r.(121g>a) p.(Val41Met) Unknown - VUS g.45194586C>T g.43774705C>T - - CSTB_000015 - - - rs143153487 SUMMARY record - 0.001 1000Gen - - - - - - - - - - - - - - - - - - - - -
?/. 2 c.121G>A r.(?) p.(Val41Met) Parent #1 - VUS g.45194586C>T g.43774705C>T - - CSTB_000015 PolyPhen-2: benign - - - Germline - - - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
-/. - c.121G>A r.(?) p.(Val41Met) Unknown - benign g.45194586C>T g.43774705C>T CSTB(NM_000100.3):c.121G>A (p.V41M) - CSTB_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.121G>A r.(?) p.(Val41Met) Unknown - likely benign g.45194586C>T g.43774705C>T CSTB(NM_000100.3):c.121G>A (p.V41M) - CSTB_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.125C>A r.125c>a p.Ser42* Unknown - pathogenic (recessive) g.45194582G>T g.43774701G>T - - CSTB_000011 - - - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.125C>A r.(?) p.(Ser42Ter) Unknown - pathogenic g.45194582G>T g.43774701G>T CSTB(NM_000100.3):c.125C>A (p.S42*) - CSTB_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 2 c.136C>T r.(136c.u) p.(Gln46*) Unknown - likely pathogenic (recessive) g.? - - - CSTB_000023 - - - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.136C>T r.spl p.(Gln46*) Parent #1 - pathogenic (recessive) g.45194571G>A g.43774690G>A c.133C>T - CSTB_000023 - PubMed: Canafoglia 2012 - - Germline - - - - - DNA SEQ, Southern - - EPM Pat5 PubMed: Canafoglia 2012 - M - Italy - - - - - 1 Johan den Dunnen
?/. 2 c.139G>C r.(139g>c) p.(Val47Leu) Unknown - VUS g.45194568C>G g.43774687C>G - - CSTB_000016 - - - rs140799752 SUMMARY record - 0.000 1000Gen - - - - - - - - - - - - - - - - - - - - -
-?/. - c.147G>A r.(?) p.(Ala49=) Unknown - likely benign g.45194560C>T g.43774679C>T CSTB(NM_000100.3):c.147G>A (p.A49=) - CSTB_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.149G>A r.149g>a p.Gly50Glu Unknown - pathogenic (recessive) g.45194558C>T g.43774677C>T - - CSTB_000009 - - - rs312262708 SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.149G>A r.(?) p.(Gly50Glu) Parent #2 - pathogenic (recessive) g.45194558C>T - G50E - CSTB_000009 - PubMed: Joensuu 2007 - - Germline - - - - - DNA SEQ - - ? PatE PubMed: Joensuu 2007 - - - Finland - - - - - 1 Johan den Dunnen
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