All individuals with variants in gene SDHC

80 entries on 1 page. Showing entries 1 - 80.
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VIP     

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Phenotype details     

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Owner     
00037009 - - - - - Germany - - 0 - - myopathy, mitochondrial mitochondrial myopathy type I; succinat dehydrogenase deficiency 1 1 Andreas Laner
00047329 - PubMed: Zbuk 2007 - F - (United States) - - 0 - - MINAS macrocepahly; Papillomatous papules; Paraganglioma. Left common carotid 18y; Fibrocystic breast diasease 20-30y; Papillary thyroid cancer 37y; Paraganglioma. Right carotid body 39y; Uterine leiomyomas 30-40y 1 1 James Whitworth
00072460 - - - - - France - - 0 - - PGL - 1 1 Jean-Pierre Bayley
00072461 - - 1 family 4 affected - - Spain - - 0 - - PGL - 1 1 Jean-Pierre Bayley
00072462 - - OMIM602413:0002; 2 families 6 affected; 1 isolated case - - Germany - - 0 - - cancer, PGL - 1 3 Jean-Pierre Bayley
00072463 - - 1 isolated case - - Germany - - 0 - - PGL - 1 2 Jean-Pierre Bayley
00072464 - - 1 isolated case F - Italy - - 0 - - PGL hypertension & norepinephrine-secreting abdominal paraganglioma 1 1 Jean-Pierre Bayley
00072465 - - 1 isolated case - - Portugal - - 0 - - PGL - 1 1 Jean-Pierre Bayley
00072466 - - OMIM602413:0003; 1 family 7 affected; 1 isolated case - - United States - - 0 - - PGL - 1 1 Jean-Pierre Bayley
00072467 - - 1 family 4 affected - - Italy - - 0 - - PGL - 1 1 Jean-Pierre Bayley
00072468 - - - - - France - - 0 - - PGL - 1 1 Jean-Pierre Bayley
00072544 - - - - - Netherlands - - 0 - - PGL - 1 1 Janneke Weiss
00072561 - - 2 families 4 affected; 1 isolated case - - France; Germany; United States - - 0 - - cancer, PGL , Aortic PGL; synchronous carotid body and thoracic aortopulmonary PGLs 1 3 Jean-Pierre Bayley
00072562 - - 1 family 4 affected; 1 isolated case - - Turkey; Poland - - 0 - - PGL - 1 2 Jean-Pierre Bayley
00072563 - - 1 family 2 affected; 1 isolated case - - Germany - - 0 - - PGL Metastatic Cat+ 1 1 Jean-Pierre Bayley
00072566 - - 1 family 1 affected - - - - - 0 - - cancer, PGL - 1 1 Jean-Pierre Bayley
00072739 - - 1 isolated case - - United States - - 0 - - PGL Bilateral CB Pgl, together with PTEN mutation- Cowden Syndrome 1 1 Jean-Pierre Bayley
00072745 - - 1 isolated case - - France - - 0 - - PGL - 1 1 Jean-Pierre Bayley
00072750 - - 1 family 2 affected - - Poland; Germany - - 0 - - PGL - 1 2 Jean-Pierre Bayley
00072756 - - 1 isolated case - - Netherlands - - 0 - - PGL - 1 1 Janneke Weiss
00072768 - - 1 isolated case - - France - - 0 - - PGL Laryngeal PGL, patient also had a papillary thyroid carcinoma 1 1 Jean-Pierre Bayley
00072771 - - 1 family 3 affected - - Spain - - 0 - - PGL - 1 1 Jean-Pierre Bayley
00072772 - - 3 isolated cases - - Spain - - 0 - - ? - 1 1 Jean-Pierre Bayley
00072824 - - 1 isolated case - - Germany - - 0 - - ? - 1 1 Jean-Pierre Bayley
00072825 - - 1 isolated case - - Germany - - 0 - - ? - 1 1 Jean-Pierre Bayley
00072826 - - 1 isolated case - - Germany - - 0 - - ? - 1 1 Jean-Pierre Bayley
00072829 - - 1 isolated case - - Germany - - 0 - - PGL - 1 1 Jean-Pierre Bayley
00072830 - - 1 isolated case - - Germany - - 0 - - PGL - 1 1 Jean-Pierre Bayley
00072831 - - 1 isolated case - - Germany - - 0 - - PGL - 1 1 Jean-Pierre Bayley
00072832 - - 1 isolated case - - Germany - - 0 - - PGL - 1 1 Jean-Pierre Bayley
00072833 - - 2 families 2 affected - - Germany - - 0 - - PGL - 1 1 Jean-Pierre Bayley
00072847 - - 2 families 2 affected - - Germany - - 0 - - PGL - 1 1 Jean-Pierre Bayley
00072848 - - 1 isolated case - - Germany - - 0 - - PGL - 1 1 Jean-Pierre Bayley
00072853 - - 1 family 1 affected - - France - - 0 - - ? - 1 0 Jean-Pierre Bayley
00072854 - - 1 family 1 affected - - France - - 0 - - ? - 1 0 Jean-Pierre Bayley
00072855 - - 1 family 1 affected - - France - - 0 - - ? - 1 0 Jean-Pierre Bayley
00072856 - - 1 family 1 affected - - France - - 0 - - ? - 1 0 Jean-Pierre Bayley
00072857 - - 2 families 2 affected - - France - - 0 - - ? - 1 0 Jean-Pierre Bayley
00072858 - - 1 family 1 affected - - France - - 0 - - ? - 1 0 Jean-Pierre Bayley
00072859 - - 1 family 1 affected - - France - - 0 - - ? - 1 0 Jean-Pierre Bayley
00072860 - - - - - France - - 0 - - ? - 1 0 Jean-Pierre Bayley
00072861 - - - - - France - - 0 - - ? - 1 0 Jean-Pierre Bayley
00072862 - - 1 family 1 affected - - France - - 0 - - ? - 1 0 Jean-Pierre Bayley
00072863 - - 1 family 1 affected - - France - - 0 - - ? - 1 0 Jean-Pierre Bayley
00072864 - - - - - France - - 0 - - ? - 1 0 Jean-Pierre Bayley
00072865 - - 3 families 5 affected - - France - - 0 - - ? - 1 0 Jean-Pierre Bayley
00072866 - - - - - France - - 0 - - ? - 1 0 Jean-Pierre Bayley
00072867 - - 1 family 1 affected - - France - - 0 - - ? - 1 0 Jean-Pierre Bayley
00072868 - - - - - France - - 0 - - ? - 1 0 Jean-Pierre Bayley
00072931 - - 1 isolated case - - Netherlands - - 0 - - PGL - 1 1 Jean-Pierre Bayley
00072939 - - - - - China - - 0 - - PGL - 1 0 Yang Zha
00072940 - - - - - China - - 0 - - PGL - 1 1 Yang Zha
00073047 - - - - - - - - 0 - - PGL - 1 1 Rita Domingues
00073077 - - 1 isolated case - - United States - - 0 - - ? - 1 1 Jean-Pierre Bayley
00079387 - PubMed: Crona Unilateral, 25 mm - - Sweden - - 0 - - PGL - 1 1 Jean-Pierre Bayley
00079388 - PubMed: Crona Unilateral, 65 mm - - Sweden - - 0 - - PGL - 1 1 Jean-Pierre Bayley
00079394 - PubMed: Else HN (glomus jugulare) T (posterior to ascending aorta), glomus jugulare, carotid body - - United States - - 0 - - PGL - 1 2 Jean-Pierre Bayley
00079395 - PubMed: Else HN (carotid body, glomus vagale) - - United States - - 0 - - PGL - 1 1 Jean-Pierre Bayley
00079396 - PubMed: Else HN (glomus jugulare) - - United States - - 0 - - PGL - 1 1 Jean-Pierre Bayley
00079397 - PubMed: Else HN (carotid body) - - United States - - 0 - - PGL - 1 1 Jean-Pierre Bayley
00079400 - PubMed: Fruhmann - - - Australia - - 0 - - PGL Pituitary Adenoma 1 1 Jean-Pierre Bayley
00079402 - PubMed: Iacobone malignant PGL - - Italy - - 0 - - PGL - 1 1 Jean-Pierre Bayley
00079412 - PubMed: Lefebvre - - - France - - 0 - - PGL sporadic 1 1 Jean-Pierre Bayley
00079413 - PubMed: Lefebvre - - - France - - 0 - - PGL sporadic 1 1 Jean-Pierre Bayley
00079414 - PubMed: Lefebvre - - - France - - 0 - - PGL sporadic 1 1 Jean-Pierre Bayley
00079424 - PubMed: Miettinen SDHA-positive GIST - - United States - - 0 - - cancer Pheo/PGL 1 1 Jean-Pierre Bayley
00079425 - PubMed: Miettinen, PubMed: Rattenberry, PubMed: Dénes, PubMed: Gill SDHA-positive GIST - - United Kingdom (Great Britain);United States - - 0 - - cancer, PGL - 1 2 Jean-Pierre Bayley
00079435 - PubMed: Pantaleo - - - Italy - - 0 - - cancer - 1 1 Jean-Pierre Bayley
00079449 - PubMed: Rattenberry - - - United Kingdom (Great Britain) - - 0 - - PGL - 1 1 Jean-Pierre Bayley
00079450 - PubMed: Rattenberry - - - United Kingdom (Great Britain) - - 0 - - PGL - 1 1 Jean-Pierre Bayley
00079489 - PubMed: Buffet - - - France - - 0 - - PGL - 1 1 Jean-Pierre Bayley
00079490 - PubMed: Buffet - - - France - - 0 - - PGL - 1 1 Jean-Pierre Bayley
00079491 - PubMed: Buffet - - - France; United Kingdom (Great Britain) - - 0 - - PGL - 1 1 Jean-Pierre Bayley
00079492 - PubMed: Buffet - - - France - - 0 - - PGL - 1 1 Jean-Pierre Bayley
00079493 - PubMed: Buffet negative SDHB immunohistochemistry - - France - - 0 - - PGL - 1 1 Jean-Pierre Bayley
00079494 - PubMed: Lefebvre - - - France - - 0 - - ? - 1 1 Jean-Pierre Bayley
00092280 - PubMed: Boikos Carney triad, the association of paragangliomas/pheochromocytomas, gastrointestinal stromal tumors and pulmonary chondromas F ? United States - - 0 - - Carney complex variant Carney triad = paragangliomas-pheochromocytomas, gastrointestinal stromal tumors and pulmonary chondromas 1 1 Jean-Pierre Bayley
00092281 - PubMed: Boikos Carney triad, the association of paragangliomas/pheochromocytomas, gastrointestinal stromal tumors and pulmonary chondromas M ? United States - - 0 - - Carney complex variant Carney triad, the association of paragangliomas/pheochromocytomas, gastrointestinal stromal tumors and pulmonary chondromas 1 1 Jean-Pierre Bayley
00092283 - PubMed: Boikos Carney triad, the association of paragangliomas/pheochromocytomas, gastrointestinal stromal tumors and pulmonary chondromas F ? United States - - 0 - - Carney complex variant Carney triad, the association of paragangliomas/pheochromocytomas, gastrointestinal stromal tumors and pulmonary chondromas 1 1 Jean-Pierre Bayley
00246561 - PubMed: Fostira 2020 - - - Greece - - 0 - - cancer, breast no family history; no triple-negative breast cancer; 31y first breast cancer, 31y second breast cancer 1 1 Florentia Fostira
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