All individuals with variants in gene FLCN

226 entries on 3 pages. Showing entries 1 - 100.
Legend   « First ‹ Prev     1 2 3     Next › Last »

AscendingIndividual ID     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age/Death     

VIP     

Data_av     

Treatment     

Disease     

Phenotype details     

Variants     

Panel size     

Owner     
00003277 - - - - - - - - 0 - - - - 1 1 Christopher Watson
00003285 - - - - - - - - 0 - - - - 1 1 Christopher Watson
00035843 - - - - - Germany - - 0 - - ? Several spontaneous pneumothorax, as her father, fibrofolliculomas 1 1 Andreas Laner
00035844 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035845 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035846 - - - - - Germany - - 0 - - BHDS Birt-Hogg-Dube-Syndrom; pneumothorax (2x), multiple fibrofolliculomas 1 1 Andreas Laner
00035847 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035848 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035849 - - - - - Germany - - 0 - - ? spontaneous pneumothorax, relapsing spontaneous pneumothorax in family 1 1 Andreas Laner
00035850 - - - - - Germany - - 0 - - ? Pneumothorax, skin anomalies, mother affected. 1 1 Andreas Laner
00035851 - - - - - Germany - - 0 - - ? Pneumothorax, skin anomalies, mother affected. 1 1 Andreas Laner
00035852 - - - - - Germany - - 0 - - ? suspected Birt-Hogg-Dubé syndrome 1 1 Andreas Laner
00035853 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035854 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035855 - - - - - Germany - - 0 - - ? suspected Birt-Hogg-Dubé-Syndrome; multiple Fibrofolikulome (face and décolleté); family history positive 1 1 Andreas Laner
00035856 - - - - - Germany - - 0 - - BHDS Birt-Hogg-Dubé-Syndrome with familiar renal cell carcinoma, family history: 3 brothers and sisters with renal cell carcinoma 1 1 Andreas Laner
00035857 - - - - - Germany - - 0 - - Healthy/Control - 1 1 Andreas Laner
00035858 - - - - - Germany - - 0 - - BHDS Birt-Hogg-Dube-Syndrome 1 1 Andreas Laner
00035859 - - - - - Germany - - 0 - - BHDS Birt-Hogg-Dubé-Syndrome with familiar renal cell carcinoma, family history: 3 brothers and sisters with renal cell carcinoma 1 1 Andreas Laner
00035860 - - - - - Germany - - 0 - - BHDS Birt-Hogg-Syndrom 1 1 Andreas Laner
00047326 - PubMed: Kashiwada 2012 - F - (Japan) - - 0 - - MINAS facial papules <28y; Colon carcinoma and multiple colon polyps 28y; Recurrent pneumothoraces x4. Pulmonary cysts 28y (first one) 1 1 James Whitworth
00048060 83 - - M - Denmark - - 0 - - MINAS testicular seminoma 39y; Phaeochromocytoma 43y; Chromophobe renal cell carcinoma 55y; Gastrointestinal stromal tumour x2 55y; Malignant peripheral nerve sheath tumour 56y; Multiple cutaneous neurofibromas and cafe au lait patches; Recurrent pneumothoraces 1 1 James Whitworth
00048061 - - - M - United Kingdom (Great Britain) - - 0 - - MINAS rectal carcinoma 27 y; Gastroesophageal adenocarcinoma 32y; Chromophobe renal cell carcinoma 32y; Facial fibrofolliculomas. 1 1 James Whitworth
00048062 - - - F - Denmark - - 0 - - MINAS pneumothorax 37y; Endometrial cancer 52y 1 1 James Whitworth
00048063 - - - F - Denmark - - 0 - - MINAS renal cell carcinoma; Colorectal polyps; Multiple pneumothoraces 1 1 James Whitworth
00048064 - - - M - Denmark - - 0 - - MINAS facial fibrofolliculomas 1 1 James Whitworth
00048066 - - - F - Denmark - - 0 - - MINAS multiple cerebral cavernous heamangiomas 48y; Multinodular goitre 48y; Submandibular oncocytoma 57y; Recurrent pnemothoraces 1 1 James Whitworth
00090564 - - gene panel study on colon cancer cases - - United States - - 0 data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database - CRC - 1 1 Melissa DeRycke
00090565 - - gene panel study on colon cancer cases - - United States - - 0 data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database - CRC - 1 1 Melissa DeRycke
00090566 - - gene panel study on colon cancer cases - - United States - - 0 data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database - CRC - 1 1 Melissa DeRycke
00090567 - - gene panel study on colon cancer cases - - United States - - 0 data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database - CRC - 1 1 Melissa DeRycke
00090568 - - gene panel study on colon cancer cases - - United States - - 0 data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database - CRC - 1 9 Melissa DeRycke
00090569 - - gene panel study on colon cancer cases - - United States - - 0 data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database - CRC - 1 1 Melissa DeRycke
00090570 - - gene panel study on colon cancer cases - - United States - - 0 data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database - CRC - 1 1 Melissa DeRycke
00090571 - - gene panel study on colon cancer cases - - United States - - 0 data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database - CRC - 1 1 Melissa DeRycke
00090572 - - gene panel study on colon cancer cases - - United States - - 0 data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database - CRC - 1 6 Melissa DeRycke
00090573 - - gene panel study on colon cancer cases - - United States - - 0 data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database - CRC - 1 1 Melissa DeRycke
00090574 - - gene panel study on controls - - United States - - 0 data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database - Healthy/Control - 1 1 Melissa DeRycke
00090575 - - gene panel study on colon cancer cases - - United States - - 0 data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database - CRC - 1 2 Melissa DeRycke
00090576 - - gene panel study on colon cancer cases - - United States - - 0 data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database - CRC - 1 1 Melissa DeRycke
00090577 - - gene panel study on colon cancer cases - - United States - - 0 data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database - CRC - 1 3 Melissa DeRycke
00090578 - - gene panel study on colon cancer cases - - United States - - 0 data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database - CRC - 1 2 Melissa DeRycke
00090579 - - gene panel study on colon cancer cases - - United States - - 0 data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database - CRC - 1 3 Melissa DeRycke
00090580 - - gene panel study on colon cancer cases - - United States - - 0 data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database - CRC - 1 1 Melissa DeRycke
00090581 - - gene panel study on colon cancer cases - - United States - - 0 data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database - CRC - 1 1 Melissa DeRycke
00090582 - - gene panel study on colon cancer cases - - United States - - 0 data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database - CRC - 1 1 Melissa DeRycke
00107968 21412933-PatC4 PubMed: Benhammou 2011 - - - United States - - 0 - - BHDS perifollicular fibroma, bilateral multifocal kidney (chromophobe) 1 1 Johan den Dunnen
00107969 - PubMed: Cho 2008 - - - - - - 0 - - ? - 1 1 Johan den Dunnen
00107970 - PubMed: Cho 2008 - - - - - - 0 - - ? - 1 1 Johan den Dunnen
00107971 - PubMed: Cho 2008 - - - - - - 0 - - ? - 1 1 Johan den Dunnen
00107972 - PubMed: Cho 2008 - - - - - - 0 - - ? - 1 1 Johan den Dunnen
00107973 - PubMed: Cho 2008 - - - - - - 0 - - ? - 1 1 Johan den Dunnen
00107974 21412933-PatA PubMed: Benhammou 2011 - - - United States - - 0 - - BHDS fibrofolliculoma, 2 lung cysts, hypothyroidism 1 1 Johan den Dunnen
00107975 - - - - - - - - 0 yes - BHDS - 1 1 Derek Lim
00107976 - PubMed: Cho 2008 - - - - - - 0 - - ? - 1 1 Johan den Dunnen
00107977 - PubMed: Cho 2008 - - - - - - 0 - - ? - 1 1 Johan den Dunnen
00107978 - PubMed: Lim 2010 - - - - - - 0 - - BHDS - 2 1 Derek Lim
00107979 - PubMed: Lim 2010 - - - - - - 0 - - BHDS - 1 1 Derek Lim
00107980 - PubMed: Bessis 2006 PubMed: Kluger 2009 - - - - - - 0 - - BHDS - 1 2 Johan den Dunnen
00107981 - - Unpublished. For further informaton please contact submitter (see reference). - - - - - 0 - - BHDS - 1 1 Lieke Gijezen
00107982 - - thyroid cancer F - Japan - - 0 - - BHDS pulmonary cysts, pneumothorax, thyroid cancer 1 1 Mitsuko Furuya
00107983 - PubMed: Cesar 2016 - - no - - - 0 - - BHDS - 1 1 Johan den Dunnen
00107984 - PubMed: Schmidt 2005 PubMed: Toro 2008 - - - - - - 0 - - BHDS - 1 1 Johan den Dunnen
00107985 - - - - - - - - 0 - - BHDS - 1 1 Derek Lim
00107986 - PubMed: Toro 2008 - - - - - - 0 - - BHDS - 1 1 Johan den Dunnen
00107987 - PubMed: Painter 2005 - - - - - - 0 - - pneumothorax, primary spontaneous Primary Spontaneous Pneumothorax 1 1 Johan den Dunnen
00107988 - PubMed: Lim 2010 - - - - - - 0 - - BHDS - 1 1 Derek Lim
00107989 - PubMed: Toro 2008 - - - - - - 0 - - BHDS - 1 1 Johan den Dunnen
00107990 - PubMed: Schmidt 2005 - - - - - - 0 - - BHDS - 1 1 Johan den Dunnen
00107991 - PubMed: Schmidt 2005 - - - - - - 0 - - BHDS - 1 1 Johan den Dunnen
00107992 - PubMed: Schmidt 2005, PubMed: Toro 2008 - - - - - - 0 - - BHDS - 1 1 Johan den Dunnen
00107993 - PubMed: Toro 2008 - - - - - - 0 - - BHDS - 1 1 Johan den Dunnen
00107994 - PubMed: Kluger 2009 - - - - - - 0 - - BHDS - 1 1 Johan den Dunnen
00107995 - PubMed: Kunogi 2010 Mainly Lung manifestations - - Japan Japanese - 0 - - BHDS - 1 1 Johan den Dunnen
00107996 - PubMed: Nagashima Int J Urol. 2011 Renal tumor/lung cysts. 3-generation family with 1 affected and 2 non-penetrant carriers. F - Japan Japanese - 0 - - BHDS Deletion of 18 bp in exon 5 (c.332_349del); BHD (renal tumor/lung cysts) 1 1 Mitsuko Furuya
00107997 - - - - - - - - 0 - - BHDS - 1 1 Derek Lim
00107998 - PubMed: Toro 2008, PubMed: Palmirotta 2008 - - - - - - 0 - - BHDS - 1 1 Johan den Dunnen
00107999 - PubMed: Frohlich 2008 - - - - - - 0 - - pneumothorax, primary spontaneous Primary Spontaneous Pneumothorax 1 1 Johan den Dunnen
00108000 - PubMed: Cho 2008 - - - - - - 0 - - ? - 1 1 Johan den Dunnen
00108001 - PubMed: Cho 2008 - - - - - - 0 - - ? - 1 1 Johan den Dunnen
00108002 - - - - - - - - 0 - - ? - 1 1 Johan den Dunnen
00108003 - PubMed: Gunji 2007 - - - - - - 0 - - pneumothorax, primary spontaneous Primary Spontaneous Pneumothorax 1 1 Johan den Dunnen
00108004 - PubMed: Ishi 2009, PubMed: Kunogi 2010 Same patient described in both references - - Japan Japanese - 0 - - pneumothorax, primary spontaneous Primary Spontaneous Pneumothorax 1 1 Johan den Dunnen
00108005 - PubMed: Nishii T 2-generation family with 3 affected carriers. F ? Japan - - 0 - - BHDS lung cysts, pneumothorax, skin tumor; BHD (lung cysts, pneumothorax) 1 1 Mitsuko Furuya
00108006 - PubMed: Gunji 2007, PubMed: Leter 2008 - - - - - - 0 - - BHDS - 1 1 Johan den Dunnen
00108007 - PubMed: van Steensel 2007, PubMed: Leter 2008 - - - - - - 0 - - BHDS - 1 1 Johan den Dunnen
00108008 - PubMed: Lim 2010 - - - - - - 0 - - BHDS - 1 1 Maurice van Steensel
00108009 - - minimal skin findings F ? - - - 0 - - BHDS Multiple lung cysts, recurrent spontaneous pneumothorax, family history of recurrent spontaneous pneumothorax (mother) and clear cell RCC (maternal grandmother); Birt-Hogg-Dube 1 1 Todd Kolb
00108010 - PubMed: Ren 2008 - - - - - - 0 - - pneumothorax, primary spontaneous Primary Spontaneous Pneumothorax 1 1 Johan den Dunnen
00108011 - PubMed: Menko 2012 - - - - - - 0 - - BHDS - 1 1 Myrovlytis Trust
00108012 - - Unpublished. For further information contact derek.lim@bwhct.nhs.uk or e.r.maher@bham.ac.uk - - - - - 0 - - BHDS - 1 1 Derek Lim
00108013 - PubMed: Liu 2014 - - no - - - 0 - - BHDS Mainly lung cysts. One affected family member with pneumothorax. 1 1 Johan den Dunnen
00108014 - PubMed: Naf 2015 - - - - - - 0 - - BHDS - 1 1 Johan den Dunnen
00108015 - PubMed: Kunogi 2010 - - - Japan Japanese - 0 - - BHDS - 1 1 Johan den Dunnen
00108016 - PubMed: Schmidt 2005, PubMed: Toro 2008 - - - - - - 0 - - BHDS - 1 1 Johan den Dunnen
00108017 - PubMed: Leter 2008, PubMed: Toro 2008 - - - - - - 0 - - BHDS - 1 1 Johan den Dunnen
00108018 - PubMed: Kluger 2009 - - - - - - 0 - - BHDS - 1 1 Johan den Dunnen
00108019 - PubMed: Cho 2008 rs2292527 - - - - - 0 - - ? - 1 1 Johan den Dunnen
00108020 - PubMed: Leter 2008 - - - - - - 0 - - BHDS - 1 1 Johan den Dunnen
00108021 - PubMed: Nickerson 2002, PubMed: Schmidt 2005 - - - - - - 0 - - BHDS - 1 1 Johan den Dunnen
Legend   « First ‹ Prev     1 2 3     Next › Last »