All individuals with variants in gene COL3A1

1338 entries on 14 pages. Showing entries 1 - 100.
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00050703 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected M - United Kingdom (Great Britain) - - - Decipher - ? talipes, inguinal hernia, generalized lipodystrophy, coarse hair, myopia 1 1 Johan den Dunnen
00081291 - - - - - Germany - - - - - EDS, EDSCV . 1 1 Gemeinschaftspraxis für Humangenetik Dresden
00104018 Vogelaar-529A PubMed: Vogelaar 2017, Journal: Vogelaar 2017 54 patients from 53 families with genetically unexplained diffuse-type and intestinal-type gastric cancer - - - - - - - - cancer, gastric diffuse-type or intestinal-type gastric cancer 1 1 Marjolijn JL Ligtenberg
00163906 - - - F - (Germany) - - - - - ? HP:0002631 (Dilatation of ascending aorta) 1 1 IMGAG
00208627 - - - F - Germany - - - - - - HP:0001519 (Disproportionate tall stature) 1 1 Andreas Laner
00288843 - - - M no China Asian 24y - - - EDSVASC - 1 1 Tingting Wan
00289044 - - - - - - - - - - - EDS - 1 1 Gemeinschaftspraxis für Humangenetik Dresden
00292504 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00292505 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00292506 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 4 Mohammed Faruq
00292507 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00292508 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00292509 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00292510 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 144 Mohammed Faruq
00292511 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00295178 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00295295 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00296392 - - - M - - - - - - - ? Mild global developmental delay (HP:0011342); Motor delay (HP:0001270); Muscle weakness (HP:0001324); Gait imbalance (HP:0002141) 1 1 Andreas Laner
00301083 - - - M - Germany - - - - - ? Obesity (HP:0001513); Abnormality of blood and blood-forming tissues (HP:0001871); Abnormality of erythrocytes (HP:0001877); Anemia (HP:0001903); Abnormality of body weight (HP:0004323); Venous thrombosis (HP:0004936) 1 1 Andreas Laner
00304762 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 2 Mohammed Faruq
00315503 SUDS085 PubMed: Neubauer 2021 - M - Switzerland Europe 55y - - - SUD SUD 1 1 Cordula Haas
00318196 - PubMed: Frank et al., 2015 - - - - - - - - - EDS, EDSVASC - 1 1 Xavier Jeunemaitre
00318197 - PubMed: Pepin et al., 2014 - - - - - - - - - EDS, EDSVASC - 1 1 Peter Byers
00318198 - PubMed: Sakai et al., 2011 The technique used was the custom NGS Gene panel. - - - - - - - - ? Aortic aneurysms and/or dissection, 1 1 Raymond Dalgleish
00318199 - PubMed: Frank et al., 2015 - - - - - - - - - EDS, EDSVASC - 1 1 Xavier Jeunemaitre
00318200 Patient 1 PubMed: Vandervore et al., 2017 The proband's younger brother is also homozygous for this variant. The heterozygous parents are healthy.The technique used was whole exome sequencing. - - - Chechnyan - - - - ? Cobblestone-like cortical malformation, 1 1 Raymond Dalgleish
00318201 Patient 2 PubMed: Horn et al., 2017 The patient's younger brother is also homozygous for the variant. Both parents were heterozygous carriers of the variant. These patients are distinct from those in PubMed: Vandervore et al., 2017 - - - - - - - - ? Cobblestone-like cortical malformation, 1 1 Raymond Dalgleish
00318202 - PubMed: Legrand et al., 2019 - - - - - - - - - EDS, EDSVASC - 1 1 Raymond Dalgleish
00318203 - - Hypermobility EDS / BJHS: EDS III Benign connective tissue phenotype with coronary artery dissections. - - - white - - - - EDS, EDSHMB - 1 1 Ruwan Weerakkody
00318204 - PubMed: Frank et al., 2015 This patient was subsequently described in PubMed: Legrand et al., 2019. - - - - - - - - EDS, EDSVASC - 1 1 Xavier Jeunemaitre
00318205 Pat9 PubMed: Overwater 2018 The technique used was the custom NGS Gene panel. - - Netherlands - - - - - EDS, EDSVASC - 1 1 Alessandra Maugeri
00318206 - - The technique used was the custom NGS Gene panel. - - - - - - - - ? Aortic aneurysms and/or dissection, 1 1 Alessandra Maugeri
00318207 - PubMed: Schwarze et al., 2001 PubMed: Pepin et al., 2014 The patient was described by PubMed: Schwarze et al., 2001 as patient P2. The patient was subsequently presented as Family 1 by PubMed: Leistritz et al., 2011. - - - - - - - - EDS, EDSVASC - 1 1 Peter Byers
00318208 - PubMed: Plancke et al., 2009 The patient is homozygous for the variant and neither parent shows any symptoms of EDS. The variant is described as being in exon 5, but is in exon 6, using the accepted conventional exon numbering scheme. This patient was subsequently described as Patient 3 by PubMed: Vandervore et al., 2017. - - - - - - - - EDS, EDSVASC - 1 1 Raymond Dalgleish
00318209 - Anderson et al., 1994 Matrix Biology 14, 392 - - - - - - - - - ? Aortic aneurysms, 1 1 Raymond Dalgleish
00318210 Patient 101 PubMed: Henneton et al, 2019 Patient is a 33 year old female. This patient was subsequently described in PubMed: Frank et al., 2019 as patient 91. - - - - - - - - ? - 1 1 Raymond Dalgleish
00318211 - PubMed: Frank et al., 2015 This patient was subsequently described in PubMed: Legrand et al., 2019. - - - - - - - - EDS, EDSVASC - 1 1 Xavier Jeunemaitre
00318212 - PubMed: Chan et al., 2008 This is a non-pathogenic variant. - - - - - - - - ? - 1 1 Raymond Dalgleish
00318213 - PubMed: Weerakkody et al., 2018 The technique used was the custom exome panel. - - - - - - - - TAAD Aortic aneurysms and/or dissection, 1 1 Raymond Dalgleish
00318214 - PubMed: Naing et al., 2011 - - - Japan Japanese - - - - EDS, EDSVASC - 1 1 Raymond Dalgleish
00318215 - PubMed: Frank et al., 2015 This patient was subsequently described as Index Patient 219 (30F) in PubMed: Henneton et al., 2019. This patient was described as Patient 1 in PubMed: Frank et al., 2019 and was also described in PubMed: Legrand et al., 2019. - - - - - - - - EDS, EDSVASC - 1 1 Xavier Jeunemaitre
00318216 - PubMed: Pepin et al., 2014 - - - - - - - - - EDS, EDSVASC - 1 1 Peter Byers
00318217 - PubMed: Pepin et al., 2000 PubMed: Pepin et al., 2014 - - - - - - - - - EDS, EDSVASC - 1 1 Peter Byers
00318218 - PubMed: Pepin et al., 2000 PubMed: Pepin et al., 2014 - - - - - - - - - EDS, EDSVASC - 1 1 Peter Byers
00318219 - PubMed: Pepin et al., 2000 PubMed: Pepin et al., 2014 - - - - - - - - - EDS, EDSVASC - 1 1 Peter Byers
00318220 - PubMed: Pepin et al., 2000 PubMed: Pepin et al., 2014 - - - - - - - - - EDS, EDSVASC - 1 1 Peter Byers
00318221 - PubMed: Pepin et al., 2000 PubMed: Pepin et al., 2014 - - - - - - - - - EDS, EDSVASC - 1 1 Peter Byers
00318222 - PubMed: Pepin et al., 2000 PubMed: Pepin et al., 2014 - - - - - - - - - EDS, EDSVASC - 1 1 Peter Byers
00318223 - PubMed: Pepin et al., 2000 PubMed: Pepin et al., 2014 - - - - - - - - - EDS, EDSVASC - 1 1 Peter Byers
00318224 P002 - - - - - white - - - - EDS, EDSVASC - 1 1 Javier Garcia-Planells
00318225 Patient 2 PubMed: Mortani Barbosa et al., 2011 The protein level variant description is incorrectly described as p.G16S. - - - - - - - - EDS, EDSVASC - 1 1 Raymond Dalgleish
00318226 - PubMed: Frank et al., 2015 This patient was subsequently described in PubMed: Legrand et al., 2019. - - - - - - - - EDS, EDSVASC - 1 1 Xavier Jeunemaitre
00318227 - PubMed: Kerwin et al., 2008 PubMed: Pepin et al., 2014 This patient was identified as Subject 00-1123 by PubMed: Kerwin et al., 2008. - - - - - - - - EDS, EDSVASC - 1 1 Peter Byers
00318228 - PubMed: Pepin et al., 2014 de novo - - - - - - - - EDS, EDSVASC - 1 1 Peter Byers
00318229 - PubMed: Pepin et al., 2014 - - - - - - - - - EDS, EDSVASC - 1 1 Peter Byers
00318230 - PubMed: Pepin et al., 2014 - - - - - - - - - EDS, EDSVASC - 1 1 Peter Byers
00318231 - PubMed: Pepin et al., 2014 de novo - - - - - - - - EDS, EDSVASC - 1 1 Peter Byers
00318232 - PubMed: Pepin et al., 2014 de novo - - - - - - - - EDS, EDSVASC - 1 1 Peter Byers
00318233 - PubMed: Pepin et al., 2014 de novo - - - - - - - - EDS, EDSVASC - 1 1 Peter Byers
00318234 - PubMed: Pepin et al., 2014 - - - - - - - - - EDS, EDSVASC - 1 1 Peter Byers
00318235 - PubMed: Pepin et al., 2014 affected sib - - - - - - - - EDS, EDSVASC - 1 1 Peter Byers
00318236 - PubMed: Pepin et al., 2014 - - - - - - - - - EDS, EDSVASC - 1 1 Peter Byers
00318237 - PubMed: Pepin et al., 2014 - - - - - - - - - EDS, EDSVASC - 1 1 Peter Byers
00318238 - - This patient was subsequently described in PubMed: Legrand et al., 2019. - - - - - - - - EDS, EDSVASC - 1 1 Xavier Jeunemaitre
00318239 - PubMed: Pepin et al., 2014 - - - - - - - - - EDS, EDSVASC - 1 1 Peter Byers
00318240 - PubMed: Smith et al., 1997 PubMed: Pepin et al., 2014 This patient was identified as Sample 1 by PubMed: Smith et al., 1997 and was subsequently described by PubMed: Pepin et al., 2000. - - - - - - - - EDS, EDSVASC - 1 1 Peter Byers
00318241 - PubMed: Pepin et al., 2000 PubMed: Pepin et al., 2014 - - - - - - - - - EDS, EDSVASC - 1 1 Peter Byers
00318242 - PubMed: Frank et al., 2015 This patient was subsequently as Index Patient 111 (37F) in PubMed: Henneton et al., 2019. This patient was described as Patient 2 in PubMed: Frank et al., 2019 and was subsequently described in PubMed: Legrand et al., 2019. - - - - - - - - EDS, EDSVASC - 1 1 Xavier Jeunemaitre
00318243 - PubMed: Morissette et al., 2014 Patient 17, Male, 51y, arterial event. His daughter, patient 18, AN_002818, female, 21y, arterial event, carries the same mutation - - - - - - - - EDS, EDSVASC - 1 1 Zhi Xu
00318244 - PubMed: Pepin et al., 2014 mosaic parent - - - - - - - - EDS, EDSVASC - 1 1 Peter Byers
00318245 P007 - - - - - white - - - - EDS, EDSVASC - 1 1 Javier Garcia-Planells
00318246 - PubMed: Schwarze et al., 2001 PubMed: Pepin et al., 2014 This patient, described by PubMed: Schwarze et al., 2001 as P3, was subsequently presented as Family 2 by PubMed: Leistritz et al., 2011. - - - - - - - - EDS, EDSVASC - 1 1 Peter Byers
00318247 - PubMed: Pepin et al., 2014 - - - - - - - - - EDS, EDSVASC - 1 1 Peter Byers
00318248 Pat10 PubMed: Overwater 2018 The technique used was the custom NGS Gene panel. M - Netherlands - - - - - EDS, EDSVASC - 1 1 Alessandra Maugeri
00318249 - PubMed: Frank et al., 2015 This patient was subsequently described in {PMID30474650:Legrand et al., 2019}. - - - - - - - - EDS, EDSVASC - 1 1 Xavier Jeunemaitre
00318250 - PubMed: Pepin et al., 2014 - - - - - - - - - EDS, EDSVASC - 1 1 Peter Byers
00318251 - PubMed: Pepin et al., 2014 - - - - - - - - - EDS, EDSVASC - 1 1 Peter Byers
00318252 Patient III-8 PubMed: Henrard et al., 2019 The patient's elder sister (III-6) also harbours the same sequence variant.The variant in this patient lies in exon 7, rather than in exon 6 as reported by the authors. - - - - - - - - EDS, EDSVASC - 1 1 Raymond Dalgleish
00318253 Patient 3 PubMed: Ferré et al., 2012 This patient is related to Patient 4 in {PMID22492385:Ferré et al., 2012}, who carries the same variant. This patient was subsequently described by {PMID25758994:Frank et al., 2015}. This patient was subsequently described as Index Patient 303 (21M) in {PMID30919682:Henneton et al., 2019}, with two other relatives who carried the same variant, and also described in {PMID30474650:Legrand et al., 2019}. They were also described as Patient 4 in {PMID30999998:Frank et al., 2019}. - - - - - - - - EDS, EDSVASC - 1 1 Xavier Jeunemaitre
00318254 Patient 4 PubMed: Ferré et al., 2012 This patient was subsequently described in {PMID30474650:Legrand et al., 2019} and also described as Patient 3 in {PMID30999998:Frank et al., 2019} - - - - - - - - EDS, EDSVASC - 1 1 Xavier Jeunemaitre
00318255 - PubMed: Frank et al., 2015 This patient was subsequently described in {PMID30474650:Legrand et al., 2019}. - - - - - - - - EDS, EDSVASC - 1 1 Xavier Jeunemaitre
00318256 - PubMed: Pepin et al., 2000 PubMed: Pepin et al., 2014 - - - - - - - - - EDS, EDSVASC - 1 1 Peter Byers
00318257 - PubMed: Schwarze et al., 1997 PubMed: Pepin et al., 2014 Patient is identified as 91-364 by {PMID9399899:Schwarze et al., 1997} and is Sample 12 in {PMID9036918:Smith et al., 1997}. - - - - - - - - EDS, EDSVASC - 1 1 Peter Byers
00318258 - PubMed: Pepin et al., 2014 - - - - - - - - - EDS, EDSVASC - 1 1 Peter Byers
00318259 - PubMed: Pepin et al., 2014 - - - - - - - - - EDS, EDSVASC - 1 1 Peter Byers
00318260 - PubMed: Pepin et al., 2014 - - - - - - - - - EDS, EDSVASC - 1 1 Peter Byers
00318261 - PubMed: Frank et al., 2015 This patient was subsequently described as Index Patient 340 (14M) in {PMID30919682:Henneton et al., 2019}. This patient was described as Patient 92 in {PMID30999998:Frank et al., 2019} and also described in {PMID30474650:Legrand et al., 2019}. - - - - - - - - EDS, EDSVASC - 1 1 Xavier Jeunemaitre
00318262 - PubMed: Pepin et al., 2014 - - - - - - - - - EDS, EDSVASC - 1 1 Peter Byers
00318263 - PubMed: Pepin et al., 2014 - - - - - - - - - EDS, EDSVASC - 1 1 Peter Byers
00318264 - PubMed: Pepin et al., 2014 - - - - - - - - - EDS, EDSVASC - 1 1 Peter Byers
00318265 - PubMed: Lloyd et al., 1993 The variant causes skipping of exon 7. - - - - - - - - EDS, EDSVASC - 1 1 Raymond Dalgleish
00318266 Patient 24 PubMed: Pope et al., 1996 - - - - - - - - - EDS, EDSVASC - 1 1 Raymond Dalgleish
00318267 - PubMed: Milewicz et al., 1993 PubMed: Pepin et al., 2014 - - - - - - - - - EDS, EDSVASC - 1 1 Peter Byers
00318268 - PubMed: Sanchez-Baya et al., 2019 The technique used was the custom NGS Gene panel. - - - - - - - - EDS, EDSVASC - 1 1 Raymond Dalgleish
00318269 - PubMed: Pepin et al., 2014 - - - - - - - - - EDS, EDSVASC - 1 1 Peter Byers
00318270 - - This is a sporadic case (de novo mutation verified). - - Italy Italian - - - - EDS, EDSVASC - 1 1 Marco Ritelli, Marina Colombi
00318271 - PubMed: Pepin et al., 2014 - - - - - - - - - EDS, EDSVASC - 1 1 Peter Byers
00318272 - PubMed: Pepin et al., 2014 - - - - - - - - - EDS, EDSVASC - 1 1 Peter Byers
00318273 - PubMed: Smith et al., 1997 PubMed: Pepin et al., 2014 This patient (Sample 2) was also included in the study by PubMed: Pepin et al., 2000 and has an affected relative (Sample 3) described also in {PMID9036918:Smith et al., 1997}. - - - - - - - - EDS, EDSVASC - 1 1 Peter Byers
00318274 - PubMed: Collins et al., 1999 PubMed: Pepin et al., 2014 This patient was also included in the study by PubMed: Pepin et al., 2000. - - - - - - - - EDS, EDSVASC - 1 1 Peter Byers
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