All individuals with variants in gene TTN

936 entries on 10 pages. Showing entries 1 - 100.
Legend   « First ‹ Prev     1 2 3 4 5 6 7 8 9 10     Next › Last »

AscendingIndividual ID     

Individual_ID     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age/Death     

VIP     

Data_av     

Treatment     

Disease     

Variants     

Panel size     

Owner     
00000066 - PubMed: Bell 2011 - - - - - - 0 - - - 1 1 LOVD-team, but with Curator vacancy
00016140 - - - ? ? Netherlands Caucasian - 0 - - CMH 3 1 Terry Vrijenhoek
00016141 - - - ? ? Netherlands caucasian - 0 - - CMH 1 1 Terry Vrijenhoek
00016142 - PubMed: Vrijenhoek 2015, Journal: Vrijenhoek 2015 - ? ? Netherlands Caucasian - 0 - - CMH 2 1 Terry Vrijenhoek
00016144 - - - ? ? Netherlands Caucasian - 0 - - CMH 3 1 Terry Vrijenhoek
00016145 - - - ? ? Netherlands Caucasian - 0 - - CMH 1 1 Terry Vrijenhoek
00016146 - - - ? ? Netherlands Caucasian - 0 - - CMH 1 1 Terry Vrijenhoek
00016148 - - - ? ? Netherlands Caucasian - 0 - - CMH 2 1 Terry Vrijenhoek
00054678 - O'Grady submitted 2-generation family, unaffected heterozygous carrier parents M - Australia - >44y 0 - - MDC 2 1 Sandra Cooper
00054680 - O'Grady submitted 2-generation family, unaffected heterozygous carrier parents M - Australia - >17y 0 - - MDC 3 1 Sandra Cooper
00054682 - O'Grady submitted 2-generation family, unaffected heterozygous carrier parents M - Australia - >11y 0 - - MDC 2 1 Sandra Cooper
00054797 - - - - - - - - 0 - - - 1 1 NeuroMeGen
00057949 - - 3 affecteds, homozygous - ? Finland - - 0 - - LGMD-2J 4 3 Johan den Dunnen
00057950 - - GenBank - - - - - 0 - - Healthy/Control 1 1 Johan den Dunnen
00057951 - - 78 patents 12 unrelated families - ? Finland - - 0 - - TMD 2 78 Johan den Dunnen
00057952 - - 4-generation family, 5 affecteds (1 sub-clinical) - - Belgium - >52y 0 - - TMD 1 5 Johan den Dunnen
00057953 - - GenBank - - - - - 0 - - Healthy/Control 1 1 Johan den Dunnen
00057954 - - 2 sisters F;F - Japan - - 0 - - CMH 1 2 Johan den Dunnen
00057955 - - - M - Japan - >45y 0 - - CMD 1 1 Johan den Dunnen
00057956 - - - M - Japan - >51y 0 - - CMD 1 1 Johan den Dunnen
00057957 - - father died of CMD F - Japan - >19y 0 - - CMD 1 2 Johan den Dunnen
00057958 - - GenBank - - - - - 0 - - Healthy/Control 1 1 Johan den Dunnen
00057959 - - increased TTN binding affinity for alpha-actinin M - Japan - >63y 0 - - CMH 1 1 Johan den Dunnen
00057960 - - 2-generation family, father and daugher M - Japan - >40y 0 - - CMD 1 1 Johan den Dunnen
00057961 - - GenBank - - - - - 0 - - Healthy/Control 1 1 Johan den Dunnen
00057962 - - 5-generation family, >12 affecteds - - Germany - - 0 - - CMD 1 12 Johan den Dunnen
00057963 - - GenBank - - - - - 0 - - Healthy/Control 1 1 Johan den Dunnen
00057964 - - GenBank - - - - - 0 - - Healthy/Control 1 1 Johan den Dunnen
00057965 - - GenBank - - - - - 0 - - Healthy/Control 1 1 Johan den Dunnen
00057966 - - GenBank - - - - - 0 - - Healthy/Control 1 1 Johan den Dunnen
00057970 - - 4-generation family, >10 affecteds - - Germany - - 0 - - CMD 1 10 Johan den Dunnen
00057971 - - GenBank - - - - - 0 - - Healthy/Control 1 1 Johan den Dunnen
00057972 - - - - - Japan - - 0 - - Healthy/Control 1 1 Johan den Dunnen
00057973 - PubMed: Carmignac 2007 4-generation family, affected 1 - yes Morocco - 17y 0 - - myopathy, early-onset, with fatal cardiomyopathy 2 1 Johan den Dunnen
00057974 - PubMed: Carmignac 2007 4-generation family, affected 2 - yes Morocco - 8y 0 - - myopathy, early-onset, with fatal cardiomyopathy 2 1 Johan den Dunnen
00057975 - PubMed: Carmignac 2007 4-generation family, affected 3 - yes Morocco - 17y 0 - - myopathy, early-onset, with fatal cardiomyopathy 2 1 Johan den Dunnen
00057976 - PubMed: Carmignac 2007 4-generation family, affected 1 - yes Sudan - 19y6m 0 - - myopathy, early-onset, with fatal cardiomyopathy 2 1 Johan den Dunnen
00057977 - PubMed: Carmignac 2007 4-generation family, affected 2 - yes Sudan - 17y6m 0 - - myopathy, early-onset, with fatal cardiomyopathy 2 1 Johan den Dunnen
00057978 - - 4-generation family, 8 affecteds - - Sweden - - 0 - - HMERF 1 8 Johan den Dunnen
00057979 - - 3-generation family, 4 affecteds - - Sweden - - 0 - - HMERF 1 4 Johan den Dunnen
00057980 - - unrelated patient - - Sweden - - 0 - - HMERF 1 1 Johan den Dunnen
00057981 - PubMed: Taylor 2011 5-generation family, 8 affecteds, 6 possibly affected - - ? (unknown) - - 0 - - ARVD;ARVC 1 8 Johan den Dunnen
00057982 - PubMed: Taylor 2011 5-generation family, 1 affected, 3 possibly affected - - ? (unknown) - - 0 - - ARVD;ARVC 1 1 Johan den Dunnen
00057983 - PubMed: Taylor 2011 6-generation family, 6 affecteds, 4 possibly affected - - ? (unknown) - - 0 - - ARVD;ARVC 1 6 Johan den Dunnen
00057984 - PubMed: Taylor 2011 5-generation family, 6 affecteds, 5 possibly affected - - ? (unknown) - - 0 - - ARVD;ARVC 1 6 Johan den Dunnen
00057985 - - - M - Canada French Canadian - 0 - - LGMD 1 1 Tom Winder
00057986 - PubMed: Gerull 2006 4-generation family, 12 affecteds - - Australia - - 0 - - CMD 1 12 Johan den Dunnen
00057987 - PubMed: Hackman 2008, PubMed: Evila 2014 2-generation family, affected mother (Pat5A) and child (Pat5B) - no France - - 0 - - TMD 2 1 Johan den Dunnen
00057988 - PubMed: Hackman 2008 3-generation family, 7 affecteds - no Spain - - 0 - - TMD 1 7 Johan den Dunnen
00057989 - PubMed: Hackman 2008 3 affected sisters - no Spain - - 0 - - TMD 1 2 Johan den Dunnen
00057990 - PubMed: Hackman 2008 3-generation family, 8 affecteds - no France - - 0 - - TMD 1 8 Johan den Dunnen
00057991 - PubMed: Taylor 2011 3-generation family, 1 affected, 1 possibly affected - - ? (unknown) - - 0 - - ARVD;ARVC 2 1 Johan den Dunnen
00057992 - PubMed: Taylor 2011 3-generation family, 1 affected - - ? (unknown) - - 0 - - ARVD;ARVC 1 1 Johan den Dunnen
00057993 - PubMed: Taylor 2011 4-generation family, 1 affected, 3 possibly affected - - ? (unknown) - - 0 - - ARVD;ARVC 1 1 Johan den Dunnen
00057994 - - - - - ? (unknown) - - 0 - - Healthy/Control 1 1 Johan den Dunnen
00057995 - - - - - ? (unknown) - - 0 - - Healthy/Control 1 1 Johan den Dunnen
00057996 - - - - - (United States) - - 0 - - Healthy/Control 1 1 Johan den Dunnen
00057997 - - - - - (United States) - - 0 - - Healthy/Control 1 1 Johan den Dunnen
00057998 - - - - - (United States) - - 0 - - Healthy/Control 1 1 Johan den Dunnen
00057999 - - - - - (United States) - - 0 - - Healthy/Control 1 1 Johan den Dunnen
00058000 - - - - - (United States) - - 0 - - Healthy/Control 1 1 Johan den Dunnen
00058001 - - - - - (United States) - - 0 - - Healthy/Control 1 1 Johan den Dunnen
00058002 - - - - - (United States) - - 0 - - Healthy/Control 1 1 Johan den Dunnen
00058003 - - - - - (United States) - - 0 - - CM 1 1 Johan den Dunnen
00058004 - - - - - (United States) - - 0 - - CMD 1 1 Johan den Dunnen
00058005 - - - F - (United States) - >51y 0 - - CMD 1 1 Johan den Dunnen
00058006 - - 2-generation family, 2 affecteds M - (United States) - >45y 0 - - CMD 1 2 Johan den Dunnen
00058007 - - 4-generation family, 2 affected, 1 carrier uncertain F - (United States) - >40y 0 - - CMD 1 3 Johan den Dunnen
00058008 - - 2-generation family, 2 affecteds M - (United States) - >57y 0 - - CMD 1 2 Johan den Dunnen
00058009 - - - M - (United States) - >33y 0 - - CMD 1 1 Johan den Dunnen
00058010 - - 2-generation family, 1 affected, 1 carrier uncertain M - (United States) - >30y 0 - - CMD 1 2 Johan den Dunnen
00058011 - - - F - (United States) - >54y 0 - - CMD 1 1 Johan den Dunnen
00058012 - - - F - (United States) - >51y 0 - - CMD 1 1 Johan den Dunnen
00058013 - - - M - (United States) - >60y 0 - - CMD 1 1 Johan den Dunnen
00058014 - - - M - (United States) - >66y 0 - - CMD 1 1 Johan den Dunnen
00058015 - - - M - (United States) - >66y 0 - - CMD 1 1 Johan den Dunnen
00058016 - - - F - (United States) - >55y 0 - - CMD 1 1 Johan den Dunnen
00058017 - - - M - (United States) - >32y 0 - - CMD 1 1 Johan den Dunnen
00058018 - - - M - (United States) - >29y 0 - - CMD 1 1 Johan den Dunnen
00058019 - - - F - (United States) - >40y 0 - - CMD 1 1 Johan den Dunnen
00058020 - - - M - (United States) - >61y 0 - - CMD 1 1 Johan den Dunnen
00058021 - - - M - (United States) - >45y 0 - - CMD 1 1 Johan den Dunnen
00058022 - - - M - (United States) - >55y 0 - - CMD 1 1 Johan den Dunnen
00058023 - - - M - (United States) - >23y 0 - - CMD 2 1 Johan den Dunnen
00058024 - - 2-generation family, 1 affected, 3 heterozygous carriers F - (United States) - >36y 0 - - CMD 2 3 Johan den Dunnen
00058025 - - - M - (United States) - >34y 0 - - CMD 1 1 Johan den Dunnen
00058026 - - - F - (United States) - >54y 0 - - CMD 1 1 Johan den Dunnen
00058027 - - 4-generation family, 3 affecteds, 2 carrier uncertain F - (United States) - >73y 0 - - CMD 1 3 Johan den Dunnen
00058028 - - - M - (United States) - >35y 0 - - CMD 1 1 Johan den Dunnen
00058029 - - - F - (United States) - >30y 0 - - CMD 1 1 Johan den Dunnen
00058030 - - - M - (United States) - 28y 0 - - CMD 1 1 Johan den Dunnen
00058031 - - 3-generation family, 4 affecteds, 1 carrier uncertain M - (United States) - 24y 0 - - CMD 1 4 Johan den Dunnen
00058032 - - 3-generation family, 3 affecteds M - (United States) - >25y 0 - - CMD 1 1 Johan den Dunnen
00058033 - - 2-generation family, 3 affecteds M - (United States) - 37y 0 - - CMD 1 2 Johan den Dunnen
00058034 - - - F - (United States) - >59y 0 - - CMD 1 1 Johan den Dunnen
00058035 - - - M - (United States) - 40y 0 - - CMD 1 1 Johan den Dunnen
00058036 - - 4-generation family, 13 affecteds, 7 carrier uncertain M - (United States) - >52y 0 - - CMD 1 15 Johan den Dunnen
00058037 - - 2-generation family, 2 affecteds M - (United States) - >42y 0 - - CMD 1 1 Johan den Dunnen
00058038 - - 2-generation family, 5 affecteds, 1 uncarrier uncertain M - (United States) - 58y 0 - - CMD 1 3 Johan den Dunnen
00058039 - - - M - (United States) - >30y 0 - - CMD 1 1 Johan den Dunnen
Legend   « First ‹ Prev     1 2 3 4 5 6 7 8 9 10     Next › Last »