All individuals with variants in gene TTN

1932 entries on 20 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2 3 4 5 6 7 8 9 10 11 ...     Next › Last »

AscendingIndividual ID     
ID_report     
Reference     
Remarks     
Gender     
Consanguinity     
Country     
Population     
Age at death     
VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Variants     
Panel size     
Owner     
00000066 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00016140 - - - ? ? Netherlands white - - - - CMH originally diagnosed with hypertrophic cardiomyopathy 3 1 Terry Vrijenhoek
00016141 - - - ? ? Netherlands white - - - - CMH originally diagnosed with hypertrophic cardiomyopathy 1 1 Terry Vrijenhoek
00016142 - PubMed: Vrijenhoek 2015, Journal: Vrijenhoek 2015 - ? ? Netherlands white - - - - CMH originally diagnosed with hypertrophic cardiomyopathy 2 1 Terry Vrijenhoek
00016144 - - - ? ? Netherlands white - - - - CMH originally diagnosed with hypertrophic cardiomyopathy 3 1 Terry Vrijenhoek
00016145 - - - ? ? Netherlands white - - - - CMH originally diagnosed with hypertrophic cardiomyopathy 1 1 Terry Vrijenhoek
00016146 - - - ? ? Netherlands white - - - - CMH originally diagnosed with hypertrophic cardiomyopathy 1 1 Terry Vrijenhoek
00016148 - - - ? ? Netherlands white - - - - CMH originally diagnosed with hypertrophic cardiomyopathy 2 1 Terry Vrijenhoek
00054678 Pat91 PubMed: O'Grady 2016 2-generation family, unaffected heterozygous carrier parents M - Australia - >44y - - - MDC infantile hypotonia and weakness, mild facial weakness, ptosis, contractures, dilated cardiomyopathy in 20s; CPK normal; histology dystrophic 2 1 Sandra Cooper
00054680 Pat93/FamBII1 PubMed: O'Grady 2016, PubMed: Bryen 2019, Journal: Bryen 2019 2-generation family, unaffected heterozygous carrier parents M - Australia - >17y - - - MDC infantile hypotonia and weakness, arthrogryposis, congenital humeral and clavicle fracture, gross motor delay, walked age 6y, mild facial weakness, distal laxity, contractures, scoliosis, mild learning difficulties; CPK normal; IHC COLVI; histology dystrophic 5 1 Sandra Cooper
00054682 Pat96 PubMed: O'Grady 2016 2-generation family, unaffected heterozygous carrier parents M - Australia - >11y - - - MDC gross motor delay, walked age 2y11m, facial weakness, distal laxity, contractures, scoliosis, rigid spine, dilated cardiomyopathy, restrictive lung disease; CPK normal; histology dystrophic 2 1 Sandra Cooper
00054797 - - - - - - - - - - - ? arthrogryposis multiplex congenita, CAP-myopathy without heart involvement 1 1 NeuroMeGen
00057949 - - 3 affecteds, homozygous - ? Finland - - - - - LGMDR10;LGMD2J severe TMD; IHC no M8/M9-TTN epitopes but A169/A170 normal, CAPN3 severly reduced 4 3 Johan den Dunnen
00057950 - - GenBank - - - - - - - - Healthy/Control - 1 1 Johan den Dunnen
00057951 - - 78 patents 12 unrelated families - ? Finland - - - - - TMD IHC no M8/M9-TTN epitopes but A169/A170 normal, CAPN3 severly reduced 2 78 Johan den Dunnen
00057952 - - 4-generation family, 5 affecteds (1 sub-clinical) - - Belgium - >52y - - - TMD CPK 497 1 5 Johan den Dunnen
00057953 - - GenBank - - - - - - - - Healthy/Control - 1 1 Johan den Dunnen
00057954 - - 2 sisters F;F - Japan - - - - - CMH - 1 2 Johan den Dunnen
00057955 - - - M - Japan - >45y - - - CMD severe heart failure, cardiac dilatation, no muscle weakness; CPK normal 1 1 Johan den Dunnen
00057956 - - - M - Japan - >51y - - - CMD - 1 1 Johan den Dunnen
00057957 - - father died of CMD F - Japan - >19y - - - CMD - 1 2 Johan den Dunnen
00057958 - - GenBank - - - - - - - - Healthy/Control - 1 1 Johan den Dunnen
00057959 - - increased TTN binding affinity for alpha-actinin M - Japan - >63y - - - CMH - 1 1 Johan den Dunnen
00057960 - - 2-generation family, father and daugher M - Japan - >40y - - - CMD cardiac arrhythmias 1 1 Johan den Dunnen
00057961 - - GenBank - - - - - - - - Healthy/Control - 1 1 Johan den Dunnen
00057962 - - 5-generation family, >12 affecteds - - Germany - - - - - CMD - 1 12 Johan den Dunnen
00057963 - - GenBank - - - - - - - - Healthy/Control - 1 1 Johan den Dunnen
00057964 - - GenBank - - - - - - - - Healthy/Control - 1 1 Johan den Dunnen
00057965 - - GenBank - - - - - - - - Healthy/Control - 1 1 Johan den Dunnen
00057966 - - GenBank - - - - - - - - Healthy/Control - 1 1 Johan den Dunnen
00057967 controls - GenBank - - - - - - - - Healthy/Control - 1 1 Johan den Dunnen
00057968 controls - - - - - - - - - - Healthy/Control - 1 1 Johan den Dunnen
00057969 controls - - - - - - - - - - Healthy/Control - 1 1 Johan den Dunnen
00057970 - - 4-generation family, >10 affecteds - - Germany - - - - - CMD WB 1.14mDa TTN 1 10 Johan den Dunnen
00057971 - - GenBank - - - - - - - - Healthy/Control - 1 1 Johan den Dunnen
00057972 - - - - - Japan - - - - - Healthy/Control - 1 1 Johan den Dunnen
00057973 - PubMed: Carmignac 2007 4-generation family, affected 1 - yes Morocco - 17y - - - CMYO5;SALMY polymorphic premature ventricular complexes, ventricular tachycardia, left ventricular shortening fraction (12y-16%); 14y-cardioembolic stroke and hemiparesis; deceased (sudden death) 2 1 Johan den Dunnen
00057974 - PubMed: Carmignac 2007 4-generation family, affected 2 - yes Morocco - 8y - - - CMYO5;SALMY auriculoventricular nodal reentrant tachycardia, left ventricular shortening fraction (8y-5%); 8y-episode cardiogenic shock; deceased (sudden death) 2 1 Johan den Dunnen
00057975 - PubMed: Carmignac 2007 4-generation family, affected 3 - yes Morocco - 17y - - - CMYO5;SALMY premature atrial complexes, left ventricular shortening fraction (15y-5%); 15y-heart transplantation; WB no CAPN3 2 1 Johan den Dunnen
00057976 - PubMed: Carmignac 2007 4-generation family, affected 1 - yes Sudan - 19y6m - - - CMYO5;SALMY polymorphic premature ventricular complexes, bigeminism and trigeminism, couplets, triplets, auriculoventricular heart block, left and right ventricular ejection fraction (19y-12%/14%); congestive heart failure; deceased (sudden death) 2 1 Johan den Dunnen
00057977 - PubMed: Carmignac 2007 4-generation family, affected 2 - yes Sudan - 17y6m - - - CMYO5;SALMY deceased (sudden death) 2 1 Johan den Dunnen
00057978 - - 4-generation family, 8 affecteds - - Sweden - - - - - MFM9 cardiomyopathy, early respiratory failure (HMERF) 1 8 Johan den Dunnen
00057979 - - 3-generation family, 4 affecteds - - Sweden - - - - - MFM9 cardiomyopathy, early respiratory failure (HMERF) 1 4 Johan den Dunnen
00057980 - - unrelated patient - - Sweden - - - - - MFM9 cardiomyopathy, early respiratory failure (HMERF) 1 1 Johan den Dunnen
00057981 - PubMed: Taylor 2011 5-generation family, 8 affecteds, 6 possibly affected - - - - - - - - ARVD/C cardiomyopathy, arrhythmogenic right ventricular (ARVC) 1 8 Johan den Dunnen
00057982 - PubMed: Taylor 2011 5-generation family, 1 affected, 3 possibly affected - - - - - - - - ARVD/C cardiomyopathy, arrhythmogenic right ventricular (ARVC) 1 1 Johan den Dunnen
00057983 - PubMed: Taylor 2011 6-generation family, 6 affecteds, 4 possibly affected - - - - - - - - ARVD/C cardiomyopathy, arrhythmogenic right ventricular (ARVC) 1 6 Johan den Dunnen
00057984 - PubMed: Taylor 2011 5-generation family, 6 affecteds, 5 possibly affected - - - - - - - - ARVD/C cardiomyopathy, arrhythmogenic right ventricular (ARVC) 1 6 Johan den Dunnen
00057985 - - - M - Canada French Canadian - - - - LGMD adult-onset LGMD; 61y wheelchair bound 1 1 Tom Winder
00057986 - PubMed: Gerull 2006 4-generation family, 12 affecteds - - Australia - - - - - CMD - 1 12 Johan den Dunnen
00057987 - PubMed: Hackman 2008, PubMed: Evila 2014 2-generation family, affected mother (Pat5A) and child (Pat5B) - no France - - - - - TMD considerably more severe TMD 2 1 Johan den Dunnen
00057988 - PubMed: Hackman 2008 3-generation family, 7 affecteds - no Spain - - - - - TMD - 1 7 Johan den Dunnen
00057989 - PubMed: Hackman 2008 3 affected sisters - no Spain - - - - - TMD - 1 2 Johan den Dunnen
00057990 - PubMed: Hackman 2008 3-generation family, 8 affecteds - no France - - - - - TMD moderately more severe TMD 1 8 Johan den Dunnen
00057991 - PubMed: Taylor 2011 3-generation family, 1 affected, 1 possibly affected - - - - - - - - ARVD/C cardiomyopathy, arrhythmogenic right ventricular (ARVC) 2 1 Johan den Dunnen
00057992 - PubMed: Taylor 2011 3-generation family, 1 affected - - - - - - - - ARVD/C cardiomyopathy, arrhythmogenic right ventricular (ARVC) 1 1 Johan den Dunnen
00057993 - PubMed: Taylor 2011 4-generation family, 1 affected, 3 possibly affected - - - - - - - - ARVD/C cardiomyopathy, arrhythmogenic right ventricular (ARVC) 1 1 Johan den Dunnen
00057994 - - - - - - - - - - - Healthy/Control - 1 1 Johan den Dunnen
00057995 - - - - - - - - - - - Healthy/Control - 1 1 Johan den Dunnen
00057996 - - - - - (United States) - - - - - Healthy/Control - 1 1 Johan den Dunnen
00057997 - - - - - (United States) - - - - - Healthy/Control - 1 1 Johan den Dunnen
00057998 - - - - - (United States) - - - - - Healthy/Control - 1 1 Johan den Dunnen
00057999 - - - - - (United States) - - - - - Healthy/Control - 1 1 Johan den Dunnen
00058000 - - - - - (United States) - - - - - Healthy/Control - 1 1 Johan den Dunnen
00058001 - - - - - (United States) - - - - - Healthy/Control - 1 1 Johan den Dunnen
00058002 - - - - - (United States) - - - - - Healthy/Control - 1 1 Johan den Dunnen
00058003 - - - - - (United States) - - - - - CM cardiomyopathy 1 1 Johan den Dunnen
00058004 - - - - - (United States) - - - - - CMD - 1 1 Johan den Dunnen
00058005 - - - F - (United States) - >51y - - - CMD normal coronary artery anatomy (cardiac angiography) 1 1 Johan den Dunnen
00058006 - - 2-generation family, 2 affecteds M - (United States) - >45y - - - CMD 45y-ventricular assist device 1 2 Johan den Dunnen
00058007 - - 4-generation family, 2 affected, 1 carrier uncertain F - (United States) - >40y - - - CMD - 1 3 Johan den Dunnen
00058008 - - 2-generation family, 2 affecteds M - (United States) - >57y - - - CMD - 1 2 Johan den Dunnen
00058009 - - - M - (United States) - >33y - - - CMD - 1 1 Johan den Dunnen
00058010 - - 2-generation family, 1 affected, 1 carrier uncertain M - (United States) - >30y - - - CMD - 1 2 Johan den Dunnen
00058011 - - - F - (United States) - >54y - - - CMD - 1 1 Johan den Dunnen
00058012 - - - F - (United States) - >51y - - - CMD - 1 1 Johan den Dunnen
00058013 - - - M - (United States) - >60y - - - CMD episodic severe dypsnea 1 1 Johan den Dunnen
00058014 - - - M - (United States) - >66y - - - CMD hospitalized for congestive heart failure, embolic cerebral vascular accident, implanted cardiac defibrillator 1 1 Johan den Dunnen
00058015 - - - M - (United States) - >66y - - - CMD atrial fibrillation,aortic insufficiency, implanted cardiac defibrillator 1 1 Johan den Dunnen
00058016 - - - F - (United States) - >55y - - - CMD atrial fibrillation, hospitalized for congestive heart failure, normal coronary artery anatomy (cardiac angiography); 55y-ventricular assist device 1 1 Johan den Dunnen
00058017 - - - M - (United States) - >32y - - - CMD hospitalized for congestive heart failure, implanted cardiac defibrillator, non-sustained ventricular tachycardia 1 1 Johan den Dunnen
00058018 - - - M - (United States) - >29y - - - CMD 29y-implanted cardiac defibrillator; non-sustained ventricular tachycardia 1 1 Johan den Dunnen
00058019 - - - F - (United States) - >40y - - - CMD hospitalized for congestive heart failure; 38y-implanted cardiac defibrillator; non-sustained ventricular tachycardia 1 1 Johan den Dunnen
00058020 - - - M - (United States) - >61y - - - CMD hospitalized for congestive heart failure; 56y-implanted cardiac defibrillator; non-sustained ventricular tachycardia 1 1 Johan den Dunnen
00058021 - - - M - (United States) - >45y - - - CMD atrial fibrillation, hospitalized for congestive heart failure, implanted cardiac defibrillator 1 1 Johan den Dunnen
00058022 - - - M - (United States) - >55y - - - CMD hospitalized for congestive heart failure; 50y-implanted cardiac defibrillator; non-sustained ventricular tachycardia 1 1 Johan den Dunnen
00058023 - - - M - (United States) - >23y - - - CMD 23y-ventricular assist device; non-sustained ventricular tachycardia, skeletal muscle disease 2 1 Johan den Dunnen
00058024 - - 2-generation family, 1 affected, 3 heterozygous carriers F - (United States) - >36y - - - CMD 33y-implanted cardiac defibrillator 2 3 Johan den Dunnen
00058025 - - - M - (United States) - >34y - - - CMD hospitalized for congestive heart failure, implanted cardiac defibrillator 1 1 Johan den Dunnen
00058026 - - - F - (United States) - >54y - - - CMD 35y-implanted cardiac defibrillator 1 1 Johan den Dunnen
00058027 - - 4-generation family, 3 affecteds, 2 carrier uncertain F - (United States) - >73y - - - CMD 70y-implanted cardiac defibrillator 1 3 Johan den Dunnen
00058028 - - - M - (United States) - >35y - - - CMD implanted cardiac defibrillator, non-sustained ventricular tachycardia 1 1 Johan den Dunnen
00058029 - - - F - (United States) - >30y - - - CMD 28y-implanted cardiac defibrillator 1 1 Johan den Dunnen
00058030 - - - M - (United States) - 28y - - - CMD hospitalized for congestive heart failure, non-sustained ventricular tachycardia; 28y-ventricular assist device 1 1 Johan den Dunnen
00058031 - - 3-generation family, 4 affecteds, 1 carrier uncertain M - (United States) - 24y - - - CMD hospitalized for congestive heart failure; 15y-ventricular assist device 1 4 Johan den Dunnen
00058032 - - 3-generation family, 3 affecteds M - (United States) - >25y - - - CMD - 1 1 Johan den Dunnen
00058033 - - 2-generation family, 3 affecteds M - (United States) - 37y - - - CMD 31y-ventricular assist device 1 2 Johan den Dunnen
00058034 - - - F - (United States) - >59y - - - CMD 53y-hospitalized for congestive heart failure 1 1 Johan den Dunnen
00058035 - - - M - (United States) - 40y - - - CMD hospitalized for congestive heart failure; 40y-implanted cardiac defibrillator 1 1 Johan den Dunnen
00058036 - - 4-generation family, 13 affecteds, 7 carrier uncertain M - (United States) - >52y - - - CMD atrial fibrillation, hospitalized for congestive heart failure; 46y-implanted cardiac defibrillator 1 15 Johan den Dunnen
Legend   How to query   « First ‹ Prev     1 2 3 4 5 6 7 8 9 10 11 ...     Next › Last »

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.