All individuals with variants in gene BSCL2

242 entries on 3 pages. Showing entries 1 - 100.
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Variants     

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00000021 - PubMed: Bell 2011 - - - - - - 0 - - BMD/DMD - 1 1 Global Variome, with Curator vacancy
00002709 - PubMed: Magre 2001 8generation family, 20 affecteds - yes Lebanon - - - - - CGL2 BerardinelliSeip lipodystrophy (BSCL) 2 20 María-Jesús Sobrido
00002710 - PubMed: Magre 2001 8generation family, >33 unaffected carriers - yes Lebanon - - - - - Healthy/Control - 1 33 María-Jesús Sobrido
00002711 - PubMed: Magre 2001 6generation family, 4 affecteds - yes Lebanon - - - - - CGL2 BerardinelliSeip lipodystrophy (BSCL) 2 4 María-Jesús Sobrido
00002712 - PubMed: Magre 2001 6generation family, 6 unaffecteds - yes Lebanon - - - - - Healthy/Control - 1 6 María-Jesús Sobrido
00002713 - PubMed: Magre 2001 4generation family, 2 affecteds - yes Lebanon - - - - - CGL2 BerardinelliSeip lipodystrophy (BSCL) 2 2 María-Jesús Sobrido
00002714 - PubMed: Magre 2001 4generation family, unaffected carrier parents - yes Lebanon - - - - - Healthy/Control - 1 2 María-Jesús Sobrido
00002715 - PubMed: Magre 2001 4generation family, 2 affecteds - yes Lebanon - - - - - CGL2 BerardinelliSeip lipodystrophy (BSCL) 2 2 María-Jesús Sobrido
00002716 - PubMed: Magre 2001 4generation family, unaffected carrier parents - yes Lebanon - - - - - Healthy/Control - 1 2 María-Jesús Sobrido
00002717 - PubMed: Magre 2001 4generation family, 1 affected - yes Lebanon - - - - - CGL2 BerardinelliSeip lipodystrophy (BSCL) 2 1 María-Jesús Sobrido
00002718 - PubMed: Magre 2001 4generation family, 4 unaffected carriers - yes Lebanon - - - - - Healthy/Control - 1 4 María-Jesús Sobrido
00002719 - PubMed: Magre 2001 5generation family, 2 affecteds - yes Norway - - - - - CGL2 BerardinelliSeip lipodystrophy (BSCL) 2 2 María-Jesús Sobrido
00002720 - PubMed: Magre 2001 5generation family, 4 unaffected carriers - yes Norway - - - - - Healthy/Control - 1 4 María-Jesús Sobrido
00002721 - PubMed: Magre 2001 5generation family, 1 affected M no Norway - - 0 - - CGL2 BerardinelliSeip lipodystrophy (BSCL) 2 1 María-Jesús Sobrido
00002722 - PubMed: Magre 2001 5generation family, 4 unaffected carriers - no Norway - - - - - Healthy/Control - 1 4 María-Jesús Sobrido
00002723 - PubMed: Magre 2001 5generation family, 2 affecteds - no Norway - - - - - CGL2 BerardinelliSeip lipodystrophy (BSCL) 2 2 María-Jesús Sobrido
00002724 - PubMed: Magre 2001 5generation family, 10 unaffected carriers - no Norway - - - - - Healthy/Control - 1 10 María-Jesús Sobrido
00002725 - PubMed: Magre 2001 6generation family, 1 affected M yes Norway - - 0 - - CGL2 BerardinelliSeip lipodystrophy (BSCL) 2 1 María-Jesús Sobrido
00002726 - PubMed: Magre 2001 6generation family, 3 unaffected carriers - yes Norway - - - - - Healthy/Control - 1 3 María-Jesús Sobrido
00002727 - PubMed: Magre 2001 3generation family, 1 affected M no Norway - - 0 - - CGL2 BerardinelliSeip lipodystrophy (BSCL) 2 1 María-Jesús Sobrido
00002728 - PubMed: Magre 2001 3generation family, 3 unaffected carriers - no Norway - - - - - Healthy/Control - 1 3 María-Jesús Sobrido
00002729 - PubMed: Magre 2001 6generation family, 1 affected M yes Italy - - 0 - - CGL2 BerardinelliSeip lipodystrophy (BSCL) 2 1 María-Jesús Sobrido
00002730 - PubMed: Magre 2001 6generation family, 3 unaffected carriers - yes Italy - - - - - Healthy/Control - 1 3 María-Jesús Sobrido
00002731 - PubMed: Magre 2001 2generation family, 2 affecteds - no United Kingdom (Great Britain) - - - - - CGL2 BerardinelliSeip lipodystrophy (BSCL) 2 2 María-Jesús Sobrido
00002732 - PubMed: Magre 2001 2generation family, 2 unaffected carrier parents - no United Kingdom (Great Britain) - - - - - Healthy/Control - 1 2 María-Jesús Sobrido
00002733 - PubMed: Magre 2001 5generation family, 1 affected F yes India - - 0 - - CGL2 BerardinelliSeip lipodystrophy (BSCL) 2 1 María-Jesús Sobrido
00002734 - PubMed: Magre 2001 5generation family, unaffected carrier parent F yes India - - 0 - - CGL2 BerardinelliSeip lipodystrophy (BSCL) 1 1 María-Jesús Sobrido
00002735 - PubMed: Magre 2001 4generation family, 1 affected M yes Turkey - - 0 - - CGL2 BerardinelliSeip lipodystrophy (BSCL) 2 1 María-Jesús Sobrido
00002736 - PubMed: Magre 2001 4generation family, 3 unaffected carriers - yes Turkey - - - - - Healthy/Control - 1 3 María-Jesús Sobrido
00002737 - PubMed: Magre 2001 5generation family, 1 affected F yes Brazil - - 0 - - CGL2 BerardinelliSeip lipodystrophy (BSCL) 2 1 María-Jesús Sobrido
00002738 - PubMed: Magre 2001 5generation family, 5 unaffected carriers - yes Brazil - - - - - Healthy/Control - 1 5 María-Jesús Sobrido
00002739 - PubMed: Magre 2001 4generation family, affected twins - yes France Portugeuse - - - - CGL2 BerardinelliSeip lipodystrophy (BSCL) 2 2 María-Jesús Sobrido
00002740 - PubMed: Magre 2001 4generation family, unaffected carrier parents - yes France Portugeuse - - - - Healthy/Control - 1 2 María-Jesús Sobrido
00002741 - PubMed: Magre 2001 4generation family, 2 affecteds - yes France Portugeuse - - - - CGL2 BerardinelliSeip lipodystrophy (BSCL) 2 2 María-Jesús Sobrido
00002742 - PubMed: Magre 2001 4generation family, unaffected carrier parents - yes France Portugeuse - - - - Healthy/Control - 1 2 María-Jesús Sobrido
00002743 - PubMed: Magre 2001 4generation family, 2 affecteds - yes Portugal - - 0 - - CGL2 BerardinelliSeip lipodystrophy (BSCL) 2 2 María-Jesús Sobrido
00002744 - PubMed: Magre 2001 4generation family, 1 affected F yes South Africa Portugeuse - 0 - - CGL2 BerardinelliSeip lipodystrophy (BSCL) 2 1 María-Jesús Sobrido
00002745 - PubMed: Magre 2001 4generation family, 4 unaffected carriers - yes South Africa Portugeuse - - - - Healthy/Control - 1 4 María-Jesús Sobrido
00002746 - PubMed: Magre 2001 2generation family, 1 affected F no South Africa Portugeuse - 0 - - CGL2 BerardinelliSeip lipodystrophy (BSCL) 2 1 María-Jesús Sobrido
00002747 - PubMed: Magre 2001 2generation family, 3 unaffected carriers - no South Africa Portugeuse - - - - Healthy/Control - 1 3 María-Jesús Sobrido
00002748 - PubMed: Magre 2001 - - no France - - - - - CGL2 BerardinelliSeip lipodystrophy (BSCL) 2 1 María-Jesús Sobrido
00002749 - PubMed: Magre 2001 - - yes France Turkish - - - - CGL2 BerardinelliSeip lipodystrophy (BSCL) 2 1 María-Jesús Sobrido
00002750 - PubMed: Magre 2001 - - yes Portugal - - - - - CGL2 BerardinelliSeip lipodystrophy (BSCL) 2 1 María-Jesús Sobrido
00002751 - PubMed: Agarwal 2003 4generation family, affected sister F yes Pakistan Pakistani - 0 - - CGL2 BerardinelliSeip lipodystrophy (BSCL); diabetes mellitus; no MR 2 1 María-Jesús Sobrido
00002752 - PubMed: Agarwal 2003 4generation family, affected sister F yes Pakistan Pakistani - 0 - - CGL2 BerardinelliSeip lipodystrophy (BSCL); no diabetes mellitus; mental retardation 2 1 María-Jesús Sobrido
00002753 - PubMed: Agarwal 2003 4generation family, 4 unaffected carriers - yes Pakistan Pakistani - 0 - - Healthy/Control - 1 4 María-Jesús Sobrido
00002754 - PubMed: Agarwal 2003 2generation family, affected brother M yes Turkey Turkish - 0 - - CGL2 BerardinelliSeip lipodystrophy (BSCL); no diabetes mellitus; mental retardation; no cardiomyopathy 2 1 María-Jesús Sobrido
00002755 - PubMed: Agarwal 2003 2generation family, unaffected carrier parents - yes Turkey Turkish - - - - Healthy/Control - 1 2 María-Jesús Sobrido
00002756 - PubMed: Agarwal 2003 2generation family, affected brother M yes Turkey Turkish - 0 - - CGL2 BerardinelliSeip lipodystrophy (BSCL); no diabetes mellitus; mental retardation; no cardiomyopathy 2 1 María-Jesús Sobrido
00002757 - PubMed: Agarwal 2003 2generation family, 1 affected F no United States Chinese - - - - CGL2 BerardinelliSeip lipodystrophy (BSCL); diabetes mellitus; mental retardation; no cardiomyopathy 2 1 María-Jesús Sobrido
00002758 - PubMed: Agarwal 2003 2generation family, unaffected carrier parents - no United States Chinese - - - - Healthy/Control - 1 2 María-Jesús Sobrido
00002759 - PubMed: Agarwal 2003 2generation family, 1 affected M no United States white; native Indian - - - - CGL2 BerardinelliSeip lipodystrophy (BSCL); no diabetes mellitus; no MR; no cardiomyopathy 2 1 María-Jesús Sobrido
00002760 - PubMed: Agarwal 2003 2generation family, unaffected carrier parents - no United States white; native Indian - 0 - - Healthy/Control - 1 2 María-Jesús Sobrido
00002761 - PubMed: Agarwal 2003 2generation family, affected brother M no United States Chinese - - - - CGL2 BerardinelliSeip lipodystrophy (BSCL); diabetes mellitus; no MR; cardiomyopathy 2 1 María-Jesús Sobrido
00002762 - PubMed: Agarwal 2003 2generation family, affected sister F no United States Chinese - - - - CGL2 BerardinelliSeip lipodystrophy (BSCL); diabetes mellitus; mental retardation; cardiomyopathy 2 1 María-Jesús Sobrido
00002763 - PubMed: Agarwal 2003 2generation family, unaffected carrier parents - no United States Chinese - - - - Healthy/Control - 1 2 María-Jesús Sobrido
00002764 - PubMed: Agarwal 2003 2generation family, affected sister F no United Kingdom (Great Britain) white - 0 - - CGL2 BerardinelliSeip lipodystrophy (BSCL); no diabetes mellitus; no MR; no cardiomyopathy 2 1 María-Jesús Sobrido
00002765 - PubMed: Agarwal 2003 2generation family, affected brother M no United Kingdom (Great Britain) white - 0 - - CGL2 BerardinelliSeip lipodystrophy (BSCL); diabetes mellitus; no MR; no cardiomyopathy 2 1 María-Jesús Sobrido
00002766 - PubMed: Agarwal 2003 2generation family, unaffected carrier parents - no United Kingdom (Great Britain) white - - - - Healthy/Control - 1 2 María-Jesús Sobrido
00002767 - PubMed: Agarwal 2003 3generation family, 1 affected F no Portugal white - 0 - - CGL2 BerardinelliSeip lipodystrophy (BSCL); diabetes mellitus; no MR; no cardiomyopathy 2 1 María-Jesús Sobrido
00002768 - PubMed: Agarwal 2003 2generation family, 1 affected M yes United States Lebanese - - - - CGL2 BerardinelliSeip lipodystrophy (BSCL); diabetes mellitus; cardiomyopathy 2 1 María-Jesús Sobrido
00002769 - PubMed: Agarwal 2003 4generation family, 3 affected M yes United States Lebanese - 0 - - CGL2 BerardinelliSeip lipodystrophy (BSCL); no diabetes mellitus; mental retardation; no cardiomyopathy 2 1 María-Jesús Sobrido
00002770 - PubMed: Agarwal 2003 4generation family, 3 affected F yes United States Lebanese - 0 - - CGL2 BerardinelliSeip lipodystrophy (BSCL); no diabetes mellitus; no MR; cardiomyopathy 2 1 María-Jesús Sobrido
00002771 - PubMed: Agarwal 2003 4generation family, 3 affected M yes United States Lebanese - 0 - - CGL2 BerardinelliSeip lipodystrophy (BSCL); no diabetes mellitus; no MR; no cardiomyopathy 2 1 María-Jesús Sobrido
00002772 - PubMed: Agarwal 2003 2generation family, 1 affected M no United States Lebanese - 0 - - CGL2 BerardinelliSeip lipodystrophy (BSCL); diabetes mellitus; mental retardation; no cardiomyopathy 2 1 María-Jesús Sobrido
00002773 - PubMed: Agarwal 2003 2generation family, 1 affected M no United States Lebanese - 0 - - CGL2 BerardinelliSeip lipodystrophy (BSCL); diabetes mellitus; mental retardation; cardiomyopathy 2 1 María-Jesús Sobrido
00002774 - PubMed: Windpassinger 2004 - - - Austria - - - - - SPG17 Silver syndrome; spastic paraparesis, amyotrophy hands 1 1 María-Jesús Sobrido
00002775 - PubMed: Windpassinger 2004 - - - Austria - - - - - SPG17 Silver syndrome; spastic paraparesis, amyotrophy hands 1 1 María-Jesús Sobrido
00002776 - PubMed: Windpassinger 2004 - - - Austria - - - - - SPG17 Silver syndrome; spastic paraparesis, amyotrophy hands 1 1 María-Jesús Sobrido
00002777 - PubMed: Windpassinger 2004 - - - Austria - - - - - SPG17 Silver syndrome; spastic paraparesis, amyotrophy hands 1 1 María-Jesús Sobrido
00002778 - PubMed: Windpassinger 2004 - - - Belgium - - - - - SPG17 Silver syndrome; spastic paraparesis, with distal amyotrophy always starting and predominating in legs 1 1 María-Jesús Sobrido
00002779 - PubMed: Windpassinger 2004 - - - Brazil - - - - - SPG17 Silver syndrome; 1 1 María-Jesús Sobrido
00002780 - PubMed: Windpassinger 2004 - - - United Kingdom (Great Britain) - - - - - SPG17 Silver syndrome; 1 1 María-Jesús Sobrido
00002781 - PubMed: Windpassinger 2004 - - - Austria - - - - - HMN5A hereditary motor neuropathy, distal (dHMN) 1 1 María-Jesús Sobrido
00002782 - PubMed: Windpassinger 2004 - - - Austria - - - - - HMN5A hereditary motor neuropathy, distal (dHMN) 1 1 María-Jesús Sobrido
00002783 - PubMed: Windpassinger 2004 - - - Austria - - - - - HMN5A hereditary motor neuropathy, distal (dHMN) 1 1 María-Jesús Sobrido
00002784 - PubMed: Windpassinger 2004 - - - Austria - - - - - HMN5A hereditary motor neuropathy, distal (dHMN) 1 1 María-Jesús Sobrido
00002785 - PubMed: Windpassinger 2004 - - - Austria - - - - - HMN5A hereditary motor neuropathy, distal (dHMN) 1 1 María-Jesús Sobrido
00002786 - PubMed: Windpassinger 2004 - - - Austria - - - - - HMN5A hereditary motor neuropathy, distal (dHMN) 1 1 María-Jesús Sobrido
00002787 - PubMed: Windpassinger 2004 - - - Austria - - - - - HMN5A hereditary motor neuropathy, distal (dHMN) 1 1 María-Jesús Sobrido
00002788 - PubMed: Windpassinger 2004 - - - Austria - - - - - HMN5A hereditary motor neuropathy, distal (dHMN) 1 1 María-Jesús Sobrido
00002789 - PubMed: Windpassinger 2004 - - - Italy - - - - - HMN5A hereditary motor neuropathy, distal (dHMN) 1 1 María-Jesús Sobrido
00002790 - PubMed: Ebihara 2004 4generation family, 1 affected M yes Japan - - 0 - - CGL2 BerardinelliSeip lipodystrophy, congenital 2 1 María-Jesús Sobrido
00002791 - PubMed: Ebihara 2004 4generation family, 6 unaffected carriers - yes Japan - - - - - Healthy/Control - 1 6 María-Jesús Sobrido
00002792 - PubMed: Ebihara 2004 4generation family, 1 affected F yes Japan - - 0 - - CGL2 BerardinelliSeip lipodystrophy, congenital 2 1 María-Jesús Sobrido
00002793 - PubMed: Ebihara 2004 4generation family, 1 affected, unaffected carrier parents - yes Japan - - 0 - - Healthy/Control - 1 2 María-Jesús Sobrido
00002794 - PubMed: Ebihara 2004 5generation family, 1 affected F yes Japan - - 0 - - CGL2 BerardinelliSeip lipodystrophy, congenital 2 1 María-Jesús Sobrido
00002795 - PubMed: Ebihara 2004 unaffected carrier parent - yes Japan - - - - - Healthy/Control - 1 1 María-Jesús Sobrido
00002796 - PubMed: van de Warrenburg 2006 3generation family, 5 affecteds - no Netherlands - - - - - SPG17 Silver syndrome; hereditary motor neuropathy, distal (dHMN) 1 5 María-Jesús Sobrido
00002797 - PubMed: van de Warrenburg 2006 4generation family, 7 affecteds - no Netherlands - - 0 - - SPG17 Silver syndrome; hereditary motor neuropathy, distal (dHMN) 1 7 María-Jesús Sobrido
00002798 - PubMed: Mandal 2006 affected twin pair ? no India - - 0 - - CGL2 BerardinelliSeip lipodystrophy, congenital 1 2 María-Jesús Sobrido
00002799 - PubMed: Mandal 2006 1 affected M yes India - - 0 - - CGL2 BerardinelliSeip lipodystrophy, congenital 1 1 María-Jesús Sobrido
00002800 - PubMed: Cho 2007 3 generation family, 2 affected sisters, 1 affected son - no Korea, South (Republic) - - 0 - - SPG17 Silver syndrome; hereditary motor neuropathy, distal (dHMN) 1 3 María-Jesús Sobrido
00002801 - PubMed: Bienfait 2007 1 affected ? ? Netherlands - - 0 - - SPG17 Silver syndrome; hereditary motor neuropathy, distal (dHMN); retained/brisk reflexes 1 1 María-Jesús Sobrido
00002802 - PubMed: Rohkamm 2007 - - ? Austria - - 0 - - HMN5A hereditary motor neuropathy, distal (dHMN) 1 1 María-Jesús Sobrido
00002803 - PubMed: Rohkamm 2007 - M ? Austria - - 0 - - HMN5A hereditary motor neuropathy, distal (dHMN) 1 1 María-Jesús Sobrido
00002804 - PubMed: Rohkamm 2007 - F ? United Kingdom (Great Britain) African - 0 - - SPG17 Silver syndrome; 1 1 María-Jesús Sobrido
00002805 - PubMed: Rohkamm 2007 - - - Germany - - 0 - - SPG17 Silver syndrome; 1 1 María-Jesús Sobrido
00002806 - - - - - - - - - - - Healthy/Control - 1 8 María-Jesús Sobrido
00002807 - - - - - - - - - - - Healthy/Control - 2 2 María-Jesús Sobrido
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