Disease #05784 (EDSCL1 (Ehlers-Danlos, classic syndrome, type 1 (EDSCL1 EDS1)), OMIM:130000)

Official abbreviation EDSCL1
Name Ehlers-Danlos, classic syndrome, type 1 (EDSCL1 EDS1)
OMIM ID 130000
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant
Individuals reported having this disease 306
Phenotype entries for this disease 62
Associated with 1 gene COL5A1
Associated tissues -
Disease features -
Remarks -
Date created 2020-07-09 19:45:04 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

306 entries on 4 pages. Showing entries 1 - 100.
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00318336 Family 3 PubMed: Ghali et al., 2019 - - - England English - - - - EDS, EDSCL1, EDSVASC - COL3A1 COL3A1 1 1 Raymond Dalgleish
00318796 - PubMed: Weerakkody et al., 2016 The variant in this patient (ID 417) is mistakenly reported as c.1922_1923+2delAAGT.Overlapping features of classical, hypermobility and (vascular) EDS: Widened atrophic scars, tissue fragility, marked generalised hypermobility (Beighton 6), normal facies, history of colonic perforation. Collagen proteins: absent proa1(III) and collagen III; LM: marked collagen depletion & increased elastin staining; EM: variable collagen fibril size & shape, dilated endoplasmic reticulum. - - - white - - - - EDS, EDSCL1, EDSHMB, EDSVASC - COL3A1 COL3A1 1 1 Ruwan Weerakkody
00318838 Family 1 V3 PubMed: Ghali et al., 2019 - M - Scotland Scottish - - - - EDS, EDSCL1, EDSVASC - COL3A1 COL3A1 1 1 Raymond Dalgleish
00318839 Family 5 V.1 PubMed: Ghali et al., 2019 The sequence variant was also identified in the proband's father (IV.1) and in her sister (V.3). F - - white - - - - EDS, EDSCL1, EDSVASC - COL3A1 COL3A1 1 1 Raymond Dalgleish
00318940 - PubMed: Weerakkody et al., 2016 Classical EDS. Clear phenotype - markedly hyperextensible skin, generalised hypermobility (Beighton 8) including marked distal hypermobility, facies suggestive of Classical EDS, no critieria met for Vascular EDS. Collagen Proteins: normal proα1(III) pattern, LM: thickened elastic fibres. EM: irregular packing of collagen fibrils (no collagen rosettes). This patient has a disease-causing variant in COL3A1 but the intronic COL5A2 VUS is unlikely to disrupt splicing.This patient is also identified with ID 636. The technique used was the custom NGS Gene panel. - - - white - - - - EDS, EDSCL1 - COL3A1 COL3A1 1 1 Ruwan Weerakkody
00319293 - PubMed: Weerakkody et al., 2016 This patient was originally identified as ID 49 by the authors. The patient was subsequently described as a member of Family 2 by {PMID30837697:Ghali et al., 2019}. - - - white - - - - EDS, EDSCL1 - COL3A1 COL3A1 1 1 Ruwan Weerakkody
00319355 II-3 PubMed: Adham et al., 2019 The proband and his sister (II-1) both carried the COL3A1 variant, but it is probably not pathogenic as it does not co-segregate with the cEDS phenotype of the mother. The pathogenic variant was evidenced in COL1A1 (c.934C>T) - - - - - - - - EDS, EDSCL1 - COL3A1 COL3A1 1 1 Raymond Dalgleish
00319380 Patient 2 PubMed: Stembridge et al., 2015 The patient's sister harbours the same variant but has a hypermobile EDS phenotype. - - - - - - - - EDS, EDSCL1 - COL3A1 COL3A1 1 1 Raymond Dalgleish
00319394 - PubMed: Watanabe et al., 2016 The technique used was the custom exome panel. - - - - - - - - EDS, EDSCL1 - COL5A2 COL5A2 1 1 Raymond Dalgleish
00319396 - - This is a sporadic case (de novo mutation verified). - - Italy Italian - - - - EDS, EDSCL1 - COL5A2 COL5A2 1 1 Marco Ritelli, Marina Colombi
00319397 - - - - - - - - - - - EDS, EDSCL1 - COL5A2 COL5A2 1 1 Francesca Ponti
00319398 - PubMed: Symoens et al., 2012 mRNA analysis confirms skipping of exon 16. - - - - - - - - EDS, EDSCL1 - COL5A2 COL5A2 1 1 Sofie Symoens
00319399 - PubMed: Symoens et al., 2012 mRNA analysis confirms skipping of exon 16. - - - - - - - - EDS, EDSCL1 - COL5A2 COL5A2 1 1 Sofie Symoens
00319401 - - - - - Italy Italian - - - - EDS, EDSCL1 - COL5A2 COL5A2 1 1 Marco Ritelli, Marina Colombi
00319402 - PubMed: Symoens et al., 2012 - - - - - - - - - EDS, EDSCL1 - COL5A2 COL5A2 1 1 Sofie Symoens
00319405 - PubMed: Symoens et al., 2012 The sequence variant at the final base of exon 21 interferes with splicing: mRNA analysis shows skipping of exon 21. - - - - - - - - EDS, EDSCL1 - COL5A2 COL5A2 1 1 Sofie Symoens
00319406 - PubMed: Weerakkody et al., 2016 Classical EDS. Clear phenotype - markedly hyperextensible skin, generalised hypermobility (Beighton 8) including marked distal hypermobility, facies suggestive of Classical EDS, no critieria met for Vascular EDS. Collagen Proteins: normal proα1(III) pattern, LM: thickened elastic fibres. EM: irregular packing of collagen fibrils (no collagen rosettes). This patient has a disease-causing variant in COL3A1 but the intronic COL5A2 VUS is unlikely to disrupt splicing.This patient is also identified with ID 636. The technique used was the custom NGS Gene panel. - - - white - - - - EDS, EDSCL1 - COL5A2 COL5A2 1 1 Ruwan Weerakkody
00319408 - PubMed: Malfait et al., 2005 The author has confirmed that this variant was originally mistakenly described as c.1608+4T>C using NM_000393.2 as the reference sequence.This variant is mistakenly shown as being adjacent to exon 22 in Figure 3 in PubMed: Malfait and De Paepe, 2005. - - - - - - - - EDS, EDSCL1 - COL5A2 COL5A2 1 1 Raymond Dalgleish
00319413 - - This is a sporadic case (de novo mutation verified). The splice site variant is predicted, in silico, to result in the alteration of the canonical splice acceptor site adjacent to exon 29. - - - - - - - - EDS, EDSCL1 - COL5A2 COL5A2 1 1 Marco Ritelli, Marina Colombi
00319414 - PubMed: Michalickova et al., 1998 This patient is also presented as proband C-II-I by PubMed: Segev et al., 2006. In both papers, the deletion is mistakenly described as being at the junction of intron 26 with exon 27 rather than at the junction of intron 28 with exon 29. - - - - - - - - EDS, EDSCL1 - COL5A2 COL5A2 1 1 Raymond Dalgleish
00319415 - PubMed: Symoens et al., 2012 This patient was previously described as mutation-negative in the study of PubMed: Malfait et al., 2005. - - - - - - - - EDS, EDSCL1 - COL5A2 COL5A2 1 1 Sofie Symoens
00319416 - PubMed: Symoens et al., 2012 mRNA analysis demonstrates skipping of exon 29. - - - - - - - - EDS, EDSCL1 - COL5A2 COL5A2 1 1 Sofie Symoens
00319418 - PubMed: Ritelli et al., 2013 This sporadic case presents with a severe phenotype (de novo mutation verified).The substitution at the last base of exon 29 results in the exon being skipped. - - Italy Italian - - - - EDS, EDSCL1 - COL5A2 COL5A2 1 1 Marco Ritelli, Marina Colombi
00319419 - PubMed: Michalickova et al., 1998 - - - - - - - - - EDS, EDSCL1 - COL5A2 COL5A2 1 1 Raymond Dalgleish
00319424 - PubMed: Ritelli et al., 2013 This sporadic case presents with a severe phenotype (de novo mutation verified). - - Italy Italian - - - - EDS, EDSCL1 - COL5A2 COL5A2 1 1 Marco Ritelli, Marina Colombi
00319425 - - Daughter of affected individual AN_002560. - - Italy Italian - - - - EDS, EDSCL1 - COL5A2 COL5A2 1 1 Marco Ritelli, Marina Colombi
00319426 - PubMed: Malfait et al., 2005 - - - - - - - - - EDS, EDSCL1 - COL5A2 COL5A2 1 1 Raymond Dalgleish
00319430 - - mRNA analysis confirms skipping of exon 44. - - - - - - - - EDS, EDSCL1 - COL5A2 COL5A2 1 1 Sofie Symoens
00319432 - PubMed: Symoens et al., 2012 - - - - - - - - - EDS, EDSCL1 - COL5A2 COL5A2 1 1 Sofie Symoens
00319433 - PubMed: Malfait et al., 2005 - - - - - - - - - EDS, EDSCL1 - COL5A2 COL5A2 1 1 Raymond Dalgleish
00319438 P4 PubMed: Mitchell et al., 2009 - - - - - - - - - EDS, EDSCL1 - COL5A2 COL5A2 1 1 Raymond Dalgleish
00319440 - PubMed: Weerakkody et al., 2016 skin fragility, skin hyper-extensibility together with joint hypermobilityPatient ID 62. - - - white - - - - EDS, EDSCL1 - COL5A2 COL5A2 1 1 Ruwan Weerakkody
00319441 - - This is a sporadic case (de novo mutation verified). - - Italy Italian - - - - EDS, EDSCL1 - COL5A2 COL5A2 1 1 Marco Ritelli, Marina Colombi
00319442 - PubMed: Symoens et al., 2012 - - - - - - - - - EDS, EDSCL1 - COL5A2 COL5A2 1 1 Sofie Symoens
00319443 - - Collagen biochemical analysis showed abnormal overmodification and intracellular retention of type V collagenThe technique used was the custom NGS Gene panel. - - Malaysia Malaysian - - - - EDS, EDSCL1 - COL5A2 COL5A2 1 1 Cecilia Giunta
00319452 - PubMed: Malfait et al., 2005 The variant in this patient is described as leading to p.I1430fsx43 in the published account. F - - - - - - - EDS, EDSCL1 - COL5A2 COL5A2 1 1 Raymond Dalgleish
00319453 - - It's not clear that the patient's COL5A2 variant is necessarily the cause of the EDS I phenotype. - - Philippines Filipino - - - - EDS, EDSCL1 - COL5A2 COL5A2 1 1 Maria Ogtong Tynan
00319546 - PubMed: Ritelli et al., 2013 Brother of affected individual AN_002536 and son of affected individual AN_002537. - - Italy Italian - - - - EDS, EDSCL1 - COL5A1 COL5A1 1 1 Marco Ritelli, Marina Colombi
00319548 - PubMed: Symoens et al., 2009 - - - - white - - - - EDS, EDSCL1 - COL5A1 COL5A1 1 1 Sofie Symoens
00319549 - PubMed: Symoens et al., 2009 - - - - white - - - - EDS, EDSCL1 - COL5A1 COL5A1 1 1 Sofie Symoens
00319550 - PubMed: Ritelli et al., 2013 This is a sporadic case (de novo mutation verified). - - Italy Italian - - - - EDS, EDSCL1 - COL5A1 COL5A1 1 1 Marco Ritelli, Marina Colombi
00319551 - PubMed: Symoens et al., 2012 - - - - - - - - - EDS, EDSCL1 - COL5A1 COL5A1 1 1 Sofie Symoens
00319552 - PubMed: Junkiert-Czarnecka et al., 2019 The patient's father harbours the same two sequence variants and has the same clinical picture. This is suggestive, but not conclusive, evidence that the EDS I phenotype is the result of the variants. - - - white - - - - EDS, EDSCL1 - COL5A1 COL5A1 2 1 Anna Junkiert-Czarnecka
00319553 Patient 54 PubMed: Leinøe et al., 2017 The technique used was whole exome sequencing. - - - - - - - - EDS, EDSCL1 - COL5A1 COL5A1 1 1 Raymond Dalgleish
00319555 - - This is a sporadic case (de novo mutation verified). - - Italy Italian - - - - EDS, EDSCL1 - COL5A1 COL5A1 1 1 Marco Ritelli, Marina Colombi
00319556 III-1 PubMed: Mao et al., 2017 The patient's father also carried the c.265C>T variant. The technique used was whole exome sequencing. - - - - - - - - EDS, EDSCL1 - COL5A1 COL5A1 1 1 Raymond Dalgleish
00319557 - PubMed: Wenstrup et al., 2000 The variant results in the skipping of exon 2. - - - - - - - - EDS, EDSCL1 - COL5A1 COL5A1 1 1 Raymond Dalgleish
00319558 - - Father of affected individual AN_002576. - - Italy Italian - - - - EDS, EDSCL1 - COL5A1 COL5A1 1 1 Marco Ritelli, Marina Colombi
00319560 - - This is a sporadic case (de novo mutation verified). - - Italy Italian - - - - EDS, EDSCL1 - COL5A1 COL5A1 1 1 Marco Ritelli, Marina Colombi
00319561 - PubMed: Savasta et al., 2015 The proband presented with unilateral periventricular heterotopia and epilepsy.Details of the COL5A1 variant are not presented in the paper but were provided post-publication by the authors. - - - - - - - - EDS, EDSCL1 - COL5A1 COL5A1 1 1 Raymond Dalgleish
00319562 - PubMed: Junkiert-Czarnecka et al., 2019 - - - - - - - - - EDS, EDSCL1 - COL5A1 COL5A1 1 1 Anna Junkiert-Czarnecka
00319564 - PubMed: Symoens et al., 2012 - - - - - - - - - EDS, EDSCL1 - COL5A1 COL5A1 1 1 Sofie Symoens
00319565 - PubMed: Morais et al., 2013 The variant is said to segregate with the EDS phenotype in the proband and in two earlier generations. However, the description of the proband's parents as healthy appears contradictory. - - - - - - - - EDS, EDSCL1 - COL5A1 COL5A1 1 1 Raymond Dalgleish
00319566 - - Father of affected individual AN_006202, brother of affected individual AN_006203 and son of affected individual AN_006204.The technique used was the custom NGS Gene panel. - - Italy Italian - - - - EDS, EDSCL1 - COL5A1 COL5A1 1 1 Marco Ritelli, Marina Colombi
00319567 - PubMed: Malfait et al., 2005 The variant in this patient is incorrectly described as leading to p.R155fsX24. - - - - - - - - EDS, EDSCL1 - COL5A1 COL5A1 1 1 Sofie Symoens
00319568 - PubMed: Malfait et al., 2005 The c.1588G>A variant is recorded in {dbSNP61735045} and in other variant databases at a frequency suggesting that it is not disease-causing.The splice site variant results in skipping of exon 3 which results in a frameshift. - - - - - - - - EDS, EDSCL1 - COL5A1 COL5A1 2 1 Sofie Symoens
00319569 P5 PubMed: Mitchell et al., 2009 - - - - - - - - - EDS, EDSCL1 - COL5A1 COL5A1 1 1 Raymond Dalgleish
00319570 - PubMed: Ritelli et al., 2013 This is a sporadic case (de novo mutation verified). - - Italy Italian - - - - EDS, EDSCL1 - COL5A1 COL5A1 1 1 Marco Ritelli, Marina Colombi
00319571 - PubMed: Symoens et al., 2012 - - - - - - - - - EDS, EDSCL1 - COL5A1 COL5A1 1 1 Sofie Symoens
00319572 - PubMed: Grond-Ginsbach et al., 1999 The variant was found in siblings who are also described as Family III in PubMed: Martin et al., 2006. In that later study, the variant was also detected in 2 of 150 healthy control patients. This is strong evidence that it is not disease-causing. - - - - - - - - EDS, EDSCL1 - COL5A1 COL5A1 1 1 Raymond Dalgleish
00319573 - PubMed: Takahara et al., 2002 The major outcome of this variant is skipping of exons 5 and 6. - - - - - - - - EDS, EDSCL1 - COL5A1 COL5A1 1 1 Raymond Dalgleish
00319574 - - For MLPA analyses the P331-B1 and P332-B1 probemixes from MRC Holland were used. The probemixes contain one probe for each exon of the COL5A1 gene with the exception of exons 12, 26, 33, 36, 39, 49, 54, 59 and 66. - - Italy Italian - - - - EDS, EDSCL1 - COL5A1 COL5A1 1 1 Marco Ritelli, Marina Colombi
00319575 - PubMed: Malfait et al., 2005 - - - - - - - - - EDS, EDSCL1 - COL5A1 COL5A1 1 1 Sofie Symoens
00319576 - PubMed: Symoens et al., 2012 - - - - - - - - - EDS, EDSCL1 - COL5A1 COL5A1 1 1 Sofie Symoens
00319578 - PubMed: Weerakkody et al., 2016 Patient ID 429 - - - white - - - - EDS, EDSCL1 - COL5A1 COL5A1 1 1 Ruwan Weerakkody
00319580 - - This is a sporadic case (de novo mutation verified). - - Italy Italian - - - - EDS, EDSCL1 - COL5A1 COL5A1 1 1 Marco Ritelli, Marina Colombi
00319583 - PubMed: Weerakkody et al., 2016 Patient ID 627. - - - white - - - - EDS, EDSCL1 - COL5A1 COL5A1 1 1 Ruwan Weerakkody
00319584 - PubMed: Symoens et al., 2011 The patient's phenotype is described as a severe form of EDS with severe kyphoscoliosis and eye involvement. The sequence variant adjacent to exon 7 also affects splicing of exon 6. mRNA analysis reveals skipping of exon 6 alone and of exons 6 and 7 together. - - - - - - - - EDS, EDSCL1 - COL5A1 COL5A1 1 1 Sofie Symoens
00319585 - PubMed: Symoens et al., 2012 mRNA analysis reveals skipping of exon 6 alone and of exons 6 and 7 together. - - - - - - - - EDS, EDSCL1 - COL5A1 COL5A1 1 1 Sofie Symoens
00319586 - PubMed: Junkiert-Czarnecka et al., 2019 - - - - white - - - - EDS, EDSCL1 - COL5A1 COL5A1 1 1 Anna Junkiert-Czarnecka
00319587 - PubMed: Wardeh et al., 2018 The technique used was whole exome sequencing. - - - Afro-Caribbean - - - - EDS, EDSCL1 - COL5A1 COL5A1 1 1 Raymond Dalgleish
00319589 - - This is a sporadic case (de novo mutation verified). - - Italy Italian - - - - EDS, EDSCL1 - COL5A1 COL5A1 1 1 Marco Ritelli, Marina Colombi
00319590 - PubMed: Symoens et al., 2012 - - - - - - - - - EDS, EDSCL1 - COL5A1 COL5A1 1 1 Sofie Symoens
00319592 - PubMed: Junkiert-Czarnecka et al., 2019 - - - - white - - - - EDS, EDSCL1 - COL5A1 COL5A1 2 1 Anna Junkiert-Czarnecka
00319593 - PubMed: Junkiert-Czarnecka et al., 2019 - - - - white - - - - EDS, EDSCL1 - COL5A1 COL5A1 2 1 Anna Junkiert-Czarnecka
00319597 - PubMed: Ritelli et al., 2013 Father of affected individuals AN_002504 and AN_002505.The splice site variant is predicted, in silico, to result in activation of a cryptic site 4 bases downstream with the effective loss of the first 4 bases of exon 8 and a frameshift as a consequence. This prediction has not been tested in vitro. - - Italy Italian - - - - EDS, EDSCL1 - COL5A1 COL5A1 1 1 Marco Ritelli, Marina Colombi
00319598 - - - - - - - - - - - EDS, EDSCL1 - COL5A1 COL5A1 1 1 Anna Junkiert-Czarnecka
00319599 - PubMed: Symoens et al., 2012 - - - - - - - - - EDS, EDSCL1 - COL5A1 COL5A1 1 1 Sofie Symoens
00319600 - - - - - - - - - - - EDS, EDSCL1 - COL5A1 COL5A1 1 1 Francesca Ponti
00319601 - - This is a sporadic case (de novo mutation verified). - - Italy Italian - - - - EDS, EDSCL1 - COL5A1 COL5A1 1 1 Marco Ritelli, Marina Colombi
00319603 - PubMed: Symoens et al., 2012 This patient was previously described as mutation-negative in the study of PubMed: Malfait et al., 2005. - - - - - - - - EDS, EDSCL1 - COL5A1 COL5A1 1 1 Sofie Symoens
00319604 - PubMed: Symoens et al., 2012 - - - - - - - - - EDS, EDSCL1 - COL5A1 COL5A1 1 1 Sofie Symoens
00319605 - PubMed: Symoens et al., 2012 - - - - - - - - - EDS, EDSCL1 - COL5A1 COL5A1 1 1 Sofie Symoens
00319607 - PubMed: Symoens et al., 2012 - - - - - - - - - EDS, EDSCL1 - COL5A1 COL5A1 1 1 Sofie Symoens
00319608 - PubMed: Symoens et al., 2012 - - - - - - - - - EDS, EDSCL1 - COL5A1 COL5A1 1 1 Sofie Symoens
00319609 - PubMed: Yasuda et al., 2013 The patient presented with a ruptured superior mesenteric artery. - - - - - - - - EDS, EDSCL1 - COL5A1 COL5A1 1 1 Raymond Dalgleish
00319610 - - This is a sporadic case (de novo mutation verified). - - Italy Italian - - - - EDS, EDSCL1 - COL5A1 COL5A1 1 1 Marco Ritelli, Marina Colombi
00319612 - PubMed: Malfait et al., 2005 This variant is recorded in {dbSNP61735045} and in other variant databases at a frequency suggesting that it is not disease-causing. - - - - - - - - EDS, EDSCL1 - COL5A1 COL5A1 1 1 Sofie Symoens
00319613 - PubMed: Malfait et al., 2005 The duplication variant in this patient is incorrectly described as an insertion (c.3450_3451insT) and the resulting frameshift is also incorrectly described as p.P1151fsX47. The c.1588G>A variant is recorded in {dbSNP61735045} and in other variant databases at a frequency suggesting that it is not disease-causing. - - - - - - - - EDS, EDSCL1 - COL5A1 COL5A1 2 1 Sofie Symoens
00319614 - PubMed: Malfait et al., 2005 The c.1588G>A variant is recorded in {dbSNP61735045} and in other variant databases at a frequency suggesting that it is not disease-causing. - - - - - - - - EDS, EDSCL1 - COL5A1 COL5A1 2 1 Sofie Symoens
00319615 - PubMed: Giunta et al., 2000 The patient's mother and daughter, both of whom are unaffected, each harbour the p.Gly530Ser variant, suggesting that the variant is not disease-causing. However, the variant may modify the disease phenotype.The c.1588G>A (p.Gly530Ser) variant is recorded in {dbSNP61735045}The technique used was ribonuclease T1 analysis (RNaseT1). The technique used was ribonuclease A analysis (RNaseA). - - - - - - - - EDS, EDSCL1 - COL5A1 COL5A1 2 1 Raymond Dalgleish
00319616 - PubMed: Giunta et al., 2002 In a previous article by the same authors (PubMed: Giunta et al., 2000), the p.Gly530Ser variant was described as disease-modifying in the heterozygous state. In this study, in which the parents were first cousins, the authors suggest that the homozygous state is disease causing. However, the c.1588G>A variant is recorded in {dbSNP61735045} and in other variant databases at a frequency suggesting that it is not disease-causing. - - Turkey Turkish - - - - EDS, EDSCL1 - COL5A1 COL5A1 1 1 Raymond Dalgleish
00319617 Patient 1 PubMed: Kiss et al., 2018 The patient's daughter carries the same variant, which co-segregated with her similar cEDS phenotype. There is contradictory data on the causality of this variant. It is found in 5% of both cEDS patients and healthy controls. The technique used was the custom NGS Gene panel. - - - - - - - - EDS, EDSCL1 - COL5A1 COL5A1 1 1 Raymond Dalgleish
00319619 P-32 PubMed: Viglio et al., 2008 - - - - - - - - - EDS, EDSCL1 - COL5A1 COL5A1 1 1 Raymond Dalgleish
00319620 - PubMed: Ritelli et al., 2013 This is a sporadic case (de novo mutation verified). - - Italy Italian - - - - EDS, EDSCL1 - COL5A1 COL5A1 1 1 Marco Ritelli, Marina Colombi
00319621 P6 PubMed: Mitchell et al., 2009 - - - - - - - - - EDS, EDSCL1 - COL5A1 COL5A1 1 1 Raymond Dalgleish
00319622 - - - - - - white - - - - EDS, EDSCL1 - COL5A1 COL5A1 1 1 Anna Junkiert-Czarnecka
00319623 P16 PubMed: Schwarze et al., 2000 This variant results in the skipping of exon 15. - - - - - - - - EDS, EDSCL1 - COL5A1 COL5A1 1 1 Raymond Dalgleish
00319625 - PubMed: Weerakkody et al., 2016 Patient ID 1129.The variant in this patient was incorrectly reported as p.Leu557fsX - - - white - - - - EDS, EDSCL1 - COL5A1 COL5A1 1 1 Ruwan Weerakkody
00319626 - PubMed: Malfait et al., 2005 - - - - - - - - - EDS, EDSCL1 - COL5A1 COL5A1 1 1 Sofie Symoens
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