All individuals with variants in gene CCM2

12 entries on 1 page. Showing entries 1 - 12.
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AscendingIndividual ID     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Disease     

Phenotype details     

Variants     

Panel size     

Owner     
00048066 - - - F - Denmark - - 0 - - MINAS, pneumothorax, primary spontaneous multiple cerebral cavernous heamangiomas 48y; Multinodular goitre 48y; Submandibular oncocytoma 57y; Recurrent pnemothoraces 1 1 James Whitworth
00058829 - - - F no - - - 0 - - AD - 1 1 Janneke Weiss
00153314 - - - M - Taiwan - - 0 - - CCM-2 - 1 1 Kang-Yang Jih
00153315 - - - M no Taiwan - - 0 - - CCM-2 - 1 1 Kang-Yang Jih
00165043 - - - - yes Italy - - 0 - - CCM - 1 1 Carmela Fusco
00165078 ? - - - - Italy - - 0 - - CCM - 1 1 Carmela Fusco
00165079 ? - - - - Italy - - 0 - - CCM - 1 1 Carmela Fusco
00165080 ? - - - - Italy - - 0 - - CCM - 1 1 Carmela Fusco
00170858 34 - - F ? Italy - - 0 - - CCM-2 Headache (HP:0002076), Cerebellar hemangiomas 1 1 Carmela Fusco
00170859 35 - - M ? Italy - - 0 - - CCM-2 Headache (HP:0002076), Epilepsy (HP:0001250), Fatigable weakness of skeletal (HP:0030197), Cerebellar hemangiomas, Bilateral lesions 1 1 Carmela Fusco
00173728 42 - - M ? Italy - - 0 - - CCM-2 Cerebellar hemangiomas 1 1 Carmela Fusco
00294468 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 5 Mohammed Faruq
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