All individuals with variants in gene COL6A1

724 entries on 8 pages. Showing entries 1 - 100.
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VIP     

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Phenotype details     

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00035383 - - - - - Germany - - 0 - - MYOP myopathia since the forth year of life, tetralogy of Fallot 1 1 Andreas Laner
00035384 - - - - - Germany - - 0 - - MYOP myopathia since the forth year of life, tetralogy of Fallot 1 1 Andreas Laner
00035385 - - - - - Germany - - 0 - - MYOP myopathia since the forth year of life, tetralogy of Fallot 1 1 Andreas Laner
00035386 - - - - - Germany - - 0 - - MYOP myopathia since the forth year of life, tetralogy of Fallot 1 1 Andreas Laner
00035387 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035388 - - - - - Germany - - 0 - - MYOP myopathia since the forth year of life, tetralogy of Fallot 1 1 Andreas Laner
00035389 - - - - - Germany - - 0 - - MYOP myopathia since the forth year of life, tetralogy of Fallot 1 1 Andreas Laner
00035390 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035391 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035392 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035393 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035394 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035395 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035396 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035397 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035398 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035399 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035400 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035401 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035402 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035403 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035404 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035405 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035406 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035407 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035408 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035409 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035410 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035411 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035412 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035413 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035414 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035415 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035416 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035417 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00054696 - PubMed: O'Grady 2016 - M - Australia - >15y 0 - - MDC weakness, hypermobility and distal laxity; CPK mild elevation (265-306); histology dystrophic 1 1 Sandra Cooper
00054697 Pat62 PubMed: O'Grady 2016 - F - Australia - >14y 0 - - MDC proximal weakness, distal laxity, round face, prominent heels and hyperkeratosis pilaris; CPK mild elevation (395); IHC COLVI; histology dystrophic 1 1 Shireen Lamandé
00054701 Pat70 PubMed: O'Grady 2016 2-generation family, unaffected heterozygous carrier parents M - Australia - >12y 0 - - MDC infantile onset, gross motor delay, distal laxity, contractures, hyperkeratosis pilaris, prominent heels; CPK mild elevation (245); IHC COLVI; histology dystrophic 1 1 Shireen Lamandé
00054704 Pat94 PubMed: O'Grady 2016 2-generation family, unaffected heterozygous carrier parents M - Australia - >12y 0 - - MDC gross motor delay, hypermobility, distal laxity, contractures, malar flush, restrictive lung disease; CPK mild elevation (245); IHC COLVI; histology dystrophic 1 1 Shireen Lamandé
00054705 Pat100 PubMed: O'Grady 2016 - M - Australia - >9y 0 - - MDC infantile hypotonia and weakness, gross motor delay, walked age 20mo, mild facial weakness, distal laxity, contractures, hyperkeratosis pilaris, finger flexor contractures; CPK mild elevation (419); IHC COLVI; histology dystrophic 1 1 Shireen Lamandé
00054707 Pat105 PubMed: O'Grady 2016 - F - Australia - >11y 0 - - MDC infantile hypotonia, omphalocoele, gross motor delay, walked age 2y, mild facial weakness, distal laxity, contractures; CPK mild elevation (254); IHC COLVI; histology dystrophic 1 1 Shireen Lamandé
00054708 Pat111 PubMed: O'Grady 2016 - F - Australia - >5y 0 - - MDC infantile hypotonia, arthrogryposis, congenital hip dysplasia, gross motor delay, contractures, hyperkeratosis pilaris, prominent heels, hypertrophic scarring; CPK mild elevation (338); IHC COLVI; histology dystrophic 1 1 Shireen Lamandé
00054709 Pat118 PubMed: O'Grady 2016 - F - Australia - >9y 0 - - MDC infantile hypotonia, gross motor delay, non-ambulant, distal laxity, contractures, scoliosis, hyperkeratosis; CPK mild elevation (415) 1 1 Shireen Lamandé
00108711 MYO-SEQ Pat12 MYO-SEQ project, UK - M no United Kingdom (Great Britain) - - 0 - - BTHLM-1 - 2 1 Alison Blain
00108717 MYO-SEQ Pat18 MYO-SEQ project, UK - F ? United Kingdom (Great Britain) - - 0 - - BTHLM-1 - 1 1 Alison Blain
00108723 MYO-SEQ Pat23 MYO-SEQ project, UK - F no United Kingdom (Great Britain) - - 0 - - BTHLM-1 - 1 1 Alison Blain
00108726 MYO-SEQ Pat26 MYO-SEQ project, UK - F no United Kingdom (Great Britain) - - 0 - - BTHLM-1 - 1 1 Alison Blain
00108732 MYO-SEQ Pat31 MYO-SEQ project, UK - F ? United Kingdom (Great Britain) - - 0 - - BTHLM-1 - 1 1 Alison Blain
00108733 MYO-SEQ Pat32 MYO-SEQ project, UK - F ? United Kingdom (Great Britain) - - 0 - - BTHLM-1 - 1 1 Alison Blain
00108737 MYO-SEQ Pat36 MYO-SEQ project, UK - M ? United Kingdom (Great Britain) - - 0 - - BTHLM-1 - 1 1 Alison Blain
00108739 MYO-SEQ Pat5 MYO-SEQ project, UK - M ? United Kingdom (Great Britain) - - 0 - - BTHLM-1 - 1 1 Alison Blain
00108740 MYO-SEQ Pat6 MYO-SEQ project, UK 2-generation family, affected father and 2 sons M ? United Kingdom (Great Britain) - - 0 - - BTHLM-1 - 1 3 Alison Blain
00108745 ? PubMed: Lampe 2005 - - - - - - 0 - - BTHLM-1 - 1 1 Johan den Dunnen
00108746 ? PubMed: Scacheri 2002 4 generation family, 12 affecteds - - United States Caucasian - 0 - - MDC LGMD-AD, infantile onset 6 patients 1 12 Johan den Dunnen
00108747 ? PubMed: Lampe 2005 - - - - - - 0 - - BTHLM-1 - 1 1 Johan den Dunnen
00108748 P13 PubMed: Lucioli 2005 - - - - - - 0 - - BTHLM-1 - 1 1 Anne Lampe
00108749 ? PubMed: Lampe 2005 - - - - - - 0 - - BTHLM-1 - 1 1 Johan den Dunnen
00108750 ? PubMed: LamandÈ 1999 - M - - - - 0 - - BTHLM-1 - 1 1 Johan den Dunnen
00108751 ? PubMed: Pan 2003 - M - - - - 0 - - BTHLM-1 - 1 1 Johan den Dunnen
00108752 P10 PubMed: Lucioli 2005 unrelated patients - - - - - 0 - - BTHLM-1 - 1 1 Anne Lampe
00108753 ? PubMed: Pepe 1999 3 generation family, affected mother and grandfather - - - - - 0 - - BTHLM-1 - 1 3 Johan den Dunnen
00108754 P3 PubMed: Giusti 2005 - - - Italy - - 0 - - UCMD - 2 1 Anne Lampe
00108755 ? PubMed: Lampe 2005 - - - - - - 0 - - BTHLM-1 - 1 1 Johan den Dunnen
00108756 ? PubMed: Lampe 2005 heterozygous parents - - - - - 0 - - UCMD - 1 1 Johan den Dunnen
00108757 P2 PubMed: Giusti 2005 - - - Turkey - - 0 - - UCMD - 1 1 Anne Lampe
00108758 ? PubMed: Lampe 2005 - - - - - - 0 - - BTHLM-1 mild 1 3 Johan den Dunnen
00108759 ? PubMed: Scacheri 2002 large 4 generation family - - United States Caucasian - 0 - - LGMD-1 LGMD-AD 1 1 Johan den Dunnen
00108760 ? PubMed: Vanegas 2002 4 generation family - - Italy - - 0 - - BTHLM-1 mild 1 1 Johan den Dunnen
00108761 P1 PubMed: Lucioli 2005 - - - - - - 0 - - BTHLM-1 - 1 1 Anne Lampe
00108762 P6 PubMed: Lucioli 2005 3 generation family - - - - - 0 - - BTHLM-1 - 1 1 Anne Lampe
00108763 P5 PubMed: Lucioli 2005 - - - - - - 0 - - BTHLM-1 prominent contractures 1 1 Anne Lampe
00108764 16278855-PatA PubMed: Pepe 2005 - F no France - - 0 - - UCMD see paper; ..., mild 1 1 Anne Lampe
00108765 B PubMed: Pepe 2005 - - - - - - 0 - - BTHLM-1 heterozygous, change in one individual 1 1 Anne Lampe
00108766 ? PubMed: Pan 2003 - M - - - >12y 0 - - UCMD - 1 1 Johan den Dunnen
00108767 P16 PubMed: Lucioli 2005 - - - - - - 0 - - BTHLM-1 - 1 1 Anne Lampe
00108768 Pat28, Pat29 PubMed: Lampe 2005 first degree relatives, no confirmatory data - - - - - 0 - - BTHLM-1 - 1 1 Johan den Dunnen
00108769 P12 PubMed: Lucioli 2005 - - - - - - 0 - - BTHLM-1 - 1 1 Anne Lampe
00108770 Pat45 PubMed: Lampe 2005 - - - - - - 0 - - UCMD mild 1 1 Johan den Dunnen
00108771 ? PubMed: Lampe 2005 - - - - - - 0 - - UCMD - 1 2 Johan den Dunnen
00108772 P4 PubMed: Giusti 2005 - - - Italy - - 0 - - UCMD mild 3 1 Anne Lampe
00108773 P1 PubMed: Giusti 2005 - - yes Turkey - - 0 - - UCMD - 3 1 Anne Lampe
00108774 Pat43 PubMed: Lampe 2005 - - - - - - 0 - - BTHLM-1 severe 1 1 Johan den Dunnen
00108775 P5 PubMed: Giusti 2005 - - - Belgium - - 0 - - UCMD mild 2 1 Anne Lampe
00108776 P14 PubMed: Lucioli 2005 - - - - - - 0 - - BTHLM-1 severe 1 1 Anne Lampe
00108777 ? PubMed: Jobsis 1996 3 generation family - - - - - 0 - - BTHLM-1 - 1 1 Johan den Dunnen
00108778 ? PubMed: LamandÈ 1998 large family, 9 affecteds - - - - - 0 - - BTHLM-1 - 1 9 Johan den Dunnen
00108779 ? PubMed: Baker 2005 - - - - - - 0 - - UCMD - 1 1 Johan den Dunnen
00108785 ? PubMed: Lampe 2005 - - - - - - 0 - - BTHLM-1 severe 1 1 Johan den Dunnen
00108795 Pat47 PubMed: Lampe 2005 - - - - - - 0 - - UCMD mild 1 1 Johan den Dunnen
00108806 ? PubMed: Lampe 2005 - - - - - - 0 - - UCMD mild 1 1 Johan den Dunnen
00108823 ? PubMed: Baker 2007 - M - Australia - - 0 - - BTHLM-1 - 2 1 Johan den Dunnen
00108824 ? PubMed: Baker 2007 - M - United States - - 0 - - BTHLM-1 CPK normal 3 1 Johan den Dunnen
00108825 ? PubMed: Baker 2007 - M - United States - - 0 - - BTHLM-1 CPK increased 1 1 Johan den Dunnen
00108826 ? PubMed: Baker 2007 - F - Australia - - 0 - - BTHLM-1 CPK increased 5 1 Johan den Dunnen
00108827 ? PubMed: Baker 2007 - M - New Zealand - - 0 - - BTHLM-1 CPK normal 1 1 Johan den Dunnen
00108828 ? PubMed: Baker 2007 - M - Australia - - 0 - - BTHLM-1 - 6 1 Johan den Dunnen
00108829 ? PubMed: Baker 2007 - M - United Kingdom (Great Britain) - - 0 - - BTHLM-1 CPK normal 2 1 Johan den Dunnen
00108830 ? PubMed: Baker 2007 - M - Australia - - 0 - - BTHLM-1 - 3 1 Johan den Dunnen
00108831 ? PubMed: Kawahara - - - - - - 0 - - UCMD - 1 1 Johan den Dunnen
00108832 ? PubMed: Baker 2007 - M - Belgium - - 0 - - BTHLM-1 CPK normal 1 1 Johan den Dunnen
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