All individuals with variants in gene SDHB

357 entries on 4 pages. Showing entries 1 - 100.
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AscendingIndividual ID     

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Gender     

Consanguinity     

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Population     

Age at death     

VIP     

Data_av     

Treatment     

Disease     

Phenotype details     

Variants     

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Owner     
00037001 - - - - - Germany - - 0 - - ? familiar SDHB-mutation c.72-8A>G (Intron1) 1 1 Andreas Laner
00037002 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00037003 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00037004 - - - - - Germany - - 0 - - ? brother: SDHB-mutation 1 1 Andreas Laner
00037005 - - - - - Germany - - 0 - - PGL paraganglioma, son with pheochomocytoma 1 1 Andreas Laner
00037006 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00037007 - - - - - Germany - - 0 - - ? Carney-Stratakis syndrome 1 1 Andreas Laner
00037008 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00072362 - - no family history; 1 isolated case - - Spain - - 0 - - PGL secreting PGL-CB; renal angiolipoma 1 1 Jean-Pierre Bayley
00072363 - - paternal grandmother - renal cell carcinoma, Fam – retroperitoneal PGL, metatases; 3 families 44 affected; 3 isolated cases - - Spain - - 0 - - PGL secreting retroperitoneal PGL 1 3 Jean-Pierre Bayley
00072364 - - father - PGL Zuckerkandl, two brothers with increased dopamine, all mutation positive; 1 family 4 affected - - Spain - - 0 - - PGL secreting retroperitoneal PGL 1 1 Jean-Pierre Bayley
00072365 - - 1 family 3 affected - - Brazil - - 0 - - PGL - 1 1 Jean-Pierre Bayley
00072366 - - 1 isolated case - - France - - 0 - - PGL Malignant Pheo 1 1 Jean-Pierre Bayley
00072367 - - - - - Spain - - 0 - - Healthy/Control - 1 1 Jean-Pierre Bayley
00072368 - - 1 isolated case - - Germany - - 0 - - PGL - 1 2 Jean-Pierre Bayley
00072369 - - 1 family 2 affected - - Italy - - 0 - - PGL - 1 1 Jean-Pierre Bayley
00072370 - - - - - Netherlands - - 0 - - Healthy/Control - 1 1 Jean-Pierre Bayley
00072371 - - (RCC-UK); 8 families 15 affected; 3 isolated cases - - Australia; New Zealand; United Kingdom (Great Britain); United States - - 0 - - cancer, PGL , Metastatic; Thoracic PGL-EA 1 7 Jean-Pierre Bayley
00072372 - - - - - Australia; Italy - - 0 - - Healthy/Control - 1 3 Jean-Pierre Bayley
00072373 - - - - - Australia - - 0 - - Healthy/Control - 1 1 Jean-Pierre Bayley
00072374 - - 1 isolated case - - United States - - 0 - - PGL Malignant 1 1 Jean-Pierre Bayley
00072375 - - 1 isolated case - - Australia - - 0 - - PGL - 1 1 Jean-Pierre Bayley
00072376 - - OMIM185470:0006; 3 families 3 affected; 4 isolated cases - - Germany;Poland; Finland; Spain; Japan - - 0 - - cancer, PGL Cardiac PGL, LOH - tumor 1 6 Jean-Pierre Bayley
00072377 - - 1 isolated case - - Germany;Poland - - 0 - - PGL - 1 1 Jean-Pierre Bayley
00072378 - - 1 isolated case - - Poland - - 0 - - PGL - 1 1 Jean-Pierre Bayley
00072379 - - 1 family 3 affected; 1 isolated case - - United States - - 0 - - PGL Metastatic; EA-PGL at 13yrs; intra-abdominal 2 2 Jean-Pierre Bayley
00072380 - - 1 family 17 affected - - Australia - - 0 - - PGL - 1 1 Jean-Pierre Bayley
00072381 - - 1 isolated case - - France - - 0 - - PGL Metastatic; Malignant Pheo 1 1 Jean-Pierre Bayley
00072382 - - 3 families 7 affected; 4 isolated cases - - Germany;Poland - - 0 - - PGL - 1 3 Jean-Pierre Bayley
00072383 - - 5 families 12 affected; 5 isolated cases - - Australia; United States; United Kingdom (Great Britain) - - 0 - - cancer, PGL , Organ of Zuckerkandl tumor 1 8 Jean-Pierre Bayley
00072384 - - 0/50 controls, Italy, and other countries {PMID18382370:Klein}, {PMID18728283:Ricketts} = RCC, {PMID19075037:Ghayee}; 6 families 14 affected; 6 isolated cases - - France - - 0 - - PGL Metastatic PCC 1 12 Jean-Pierre Bayley
00072385 - - UK (metastatic RCC); 2 families 7 affected; 1 isolated case - - Italy; United Kingdom (Great Britain) - - 0 - - cancer, PGL - 1 3 Jean-Pierre Bayley
00072386 - - 1 isolated case - - Germany - - 0 - - PGL - 1 1 Jean-Pierre Bayley
00072387 - - 3 families 5 affected; 9 isolated cases - - Spain; Belgium - - 0 - - PGL - 1 7 Jean-Pierre Bayley
00072388 - - 1 family 1 affected - - France - - 0 - - pheochromocytoma - 1 2 Jean-Pierre Bayley
00072389 - - 1 isolated case - - United States - - 0 - - PGL - 1 1 Jean-Pierre Bayley
00072390 - - 1 isolated case - - Australia - - 0 - - PGL Metastatic; Bladder PGL 2 1 Jean-Pierre Bayley
00072391 - - 1 family 3 affected - - Germany - - 0 - - PGL - 1 1 Jean-Pierre Bayley
00072392 - - - - - Australia; Italy - - 0 - - Healthy/Control - 1 2 Jean-Pierre Bayley
00072393 - - Polymorphism? - - United Kingdom (Great Britain) - - 0 - - Healthy/Control - 1 1 Jean-Pierre Bayley
00072394 - - - - - United Kingdom (Great Britain); Italy - - 0 - - Healthy/Control - 1 2 Jean-Pierre Bayley
00072395 - - 1 family 2 affected - - United States - - 0 - - PGL - 1 1 Jean-Pierre Bayley
00072396 - - 0/300 controls, 1/100 controls; 2 families 8 affected; 2 isolated cases - - United Kingdom (Great Britain); Germany - - 0 - - PGL - 1 2 Jean-Pierre Bayley
00072397 - - OMIM185470:0001; 5 families 12 affected; 4 isolated cases - - Sweden;France; Australia; United Kingdom (Great Britain); Saudi Arabia - - 0 - - PGL Metastatic PGL 1 8 Jean-Pierre Bayley
00072398 - - 2 isolated cases - - Italy; Spain - - 0 - - PGL - 1 2 Jean-Pierre Bayley
00072399 - - 1 family 2 affected - - Portugal - - 0 - - PGL - 1 2 Ginesa Garcia-Rostan
00072400 - - 3 isolated cases M - Japan; United States; Italy - - 0 - - PGL Malignant; Abdominal PGL 1 3 Kazumasa Isobe
00072401 - - 2 isolated cases - - United States - - 0 - - PGL Malignant 1 2 Jean-Pierre Bayley
00072402 - - 2 isolated cases - - Germany - - 0 - - PGL - 1 1 Jean-Pierre Bayley
00072403 - - 1 family 1 affected - - United States - - 0 - - PGL para-renal paraganglioma 1 1 Jean-Pierre Bayley
00072404 - - 1 family 1 affected; 2 isolated cases - - United States - - 0 - - PGL Metastatic; Malignant 1 3 Jean-Pierre Bayley
00072405 - - 2 families 3 affected - - United States - - 0 - - PGL - 1 2 Ginesa Garcia-Rostan
00072406 - - 1 family 1 affected - - Australia - - 0 - - pheochromocytoma Metastatic 1 1 Jean-Pierre Bayley
00072407 - - 1 isolated case - - United Kingdom (Great Britain) - - 0 - - PGL - 1 1 Jean-Pierre Bayley
00072408 - - 1 family 2 affected - - United States; Spain; Italy - - 0 - - PGL - 1 1 Barbara Pasini
00072409 - - 1 family 2 affected; 2 isolated cases - - Germany;Poland - - 0 - - PGL - 1 2 Jean-Pierre Bayley
00072410 - - 1 family 2 affected - - Australia - - 0 - - PGL Metastatic 1 1 Jean-Pierre Bayley
00072411 - - 1 family 2 affected - - Portugal - - 0 - - PGL - 1 2 Ginesa Garcia-Rostan
00072412 - - 1 isolated case - - United States - - 0 - - PGL - 1 1 Jean-Pierre Bayley
00072413 - - 1 isolated case - - United Kingdom (Great Britain) - - 0 - - PGL Unilateral 1 1 Jean-Pierre Bayley
00072414 - - 3 families 11 affected; 5 isolated cases - - Canada; New Zealand; Australia; United Kingdom (Great Britain); United States - - 0 - - PGL Metastatic 1 7 Jean-Pierre Bayley
00072415 - - 1 family 3 affected - - United States - - 0 - - PGL - 1 1 Jean-Pierre Bayley
00072416 - - 3 isolated cases - - United States; France - - 0 - - PGL Thyroid PGL; maliganat PGL-EA 1 3 Jean-Pierre Bayley
00072417 - - 1 family 6 affected - - Switzerland - - 0 - - PGL Metastatic 1 1 Jean-Pierre Bayley
00072418 - - 2 families 11 affected; 2 isolated cases - - United States - - 0 - - PGL Malignant; 8y girl, 13y boy (mother diagnosed at 14 years of age), male, 11 y,Malignant neuroblastoma, PC, and renal cell carcinoma 1 6 Jean-Pierre Bayley
00072419 - - - - - - - - 0 - - Healthy/Control - 1 1 Jean-Pierre Bayley
00072420 - - 3 families 35 affected; 4 isolated cases - - Netherlands; Australia; Italy - - 0 - - PGL - 1 5 Janneke Weiss
00072421 - - 2 families 2 affected - - France - - 0 - - cancer, PGL - 1 5 Jean-Pierre Bayley
00072422 - - 2 families 7 affected; 2 isolated cases - - United States - - 0 - - PGL - 1 3 Jean-Pierre Bayley
00072423 - - 2 families 5 affected - - Australia - - 0 - - PGL Thoracic PGL-EA 1 1 Jean-Pierre Bayley
00072424 - - 1 isolated case - - Portugal - - 0 - - PGL - 1 1 Ginesa Garcia-Rostan
00072425 - - 1 family 2 affected - - United Kingdom (Great Britain) - - 0 - - PGL - 1 1 Jean-Pierre Bayley
00072426 - - 1 family 3 affected - - Germany - - 0 - - PGL Several other tumors present 1 1 Jean-Pierre Bayley
00072427 - - - - - United States - - 0 - - PGL Several other tumors present 1 1 Jean-Pierre Bayley
00072428 - - 1 isolated case - - Spain; Portugal - - 0 - - PGL - 1 1 Ginesa Garcia-Rostan
00072429 - - 1 family 4 affected; 2 isolated cases - - Germany;Poland; United States - - 0 - - PGL - 1 4 Jean-Pierre Bayley
00072430 - - 1 family 1 affected - - France - - 0 - - PGL Metastatic 1 1 Jean-Pierre Bayley
00072431 - - - F - Italy - - 0 - - pheochromocytoma - 1 1 Tonino Ercolino
00072432 - - 1 family 1 affected; 2 isolated cases - - Spain; United States - - 0 - - PGL Recurrent PCC 1 3 Jean-Pierre Bayley
00072433 - - 2 families 4 affected; 4 isolated cases - - Germany;Poland;France;United States - - 0 - - PGL Malignant 1 5 Jean-Pierre Bayley
00072434 - - OMIM185470:0002; 4 families 10 affected - - United Kingdom (Great Britain) - - 0 - - PGL Metastatic 1 4 Jean-Pierre Bayley
00072435 - - OMIM185470:0003; 1 family 1 affected; 3 isolated cases - - France; United Kingdom (Great Britain); United States - - 0 - - PGL - 1 4 Jean-Pierre Bayley
00072436 - - 1 family 2 affected - - Spain; Portugal - - 0 - - PGL - 1 2 Ginesa Garcia-Rostan
00072437 - - 2 families 4 affected; 4 isolated cases - - Canada; United States - - 0 - - PGL Metastatic; ONC 1 6 Jean-Pierre Bayley
00072438 - - 1 family 1 affected; 3 isolated cases - - France - - 0 - - PGL Metastatic 1 4 Jean-Pierre Bayley
00072439 - - 2 families 7 affected - - United States - - 0 - - pheochromocytoma - 1 1 Jean-Pierre Bayley
00072440 - - 1 isolated case - - United States - - 0 - - PGL Malignant 1 1 Jean-Pierre Bayley
00072441 - - maternal uncle metastatic PGL, mother,sister and two uncles, carriers and asymptomatic; 1 family 6 affected - - Spain - - 0 - - PGL Pediatric ; Metastatic 1 0 Jean-Pierre Bayley
00072442 - - 1 family 2 affected; 2 isolated cases M - Germany; United States - - 0 - - PGL - 1 3 Jean-Pierre Bayley
00072443 - - 1 family 2 affected - - Netherlands - - 0 - - PGL - 1 1 Jean-Pierre Bayley
00072444 - - 1 family 2 affected - - Serbia - - 0 - - PGL - 1 1 Svetozar Damjanovic
00072445 - - 1 isolated case - - United Kingdom (Great Britain) - - 0 - - PGL Unilateral 1 1 Jean-Pierre Bayley
00072446 - - 1 isolated case - - Serbia - - 0 - - pheochromocytoma - 1 1 Jovana Vignjevic
00072447 - - 1 isolated case - - United States - - 0 - - PGL Malignant 1 1 Jean-Pierre Bayley
00072448 - - 4 isolated cases - - France; United States - - 0 - - PGL Metastatic 1 4 Jean-Pierre Bayley
00072449 - - 4 isolated cases - - France; Belgium; Spain - - 0 - - PGL Malignant Pheo 1 4 Jean-Pierre Bayley
00072450 - - 1 family 2 affected - - Spain; Portugal - - 0 - - PGL - 1 2 Jean-Pierre Bayley
00072451 - - 1 family 1 affected; 1 isolated case - - France - - 0 - - PGL - 1 1 Jean-Pierre Bayley
00072452 - - OMIM185470:0005; 2 families 5 affected; 2 isolated cases - - Germany;Poland - - 0 - - cancer, PGL - 1 3 Jean-Pierre Bayley
00072453 - - 1 isolated case - - France - - 0 - - PGL - 1 1 Jean-Pierre Bayley
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