All individuals with variants in gene NF1

4921 entries on 50 pages. Showing entries 1 - 100.
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Data_av     

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Phenotype details     

Variants     

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00016860 ID44 - NF1 patient F ? (Germany) - ? 0 - - NF-1 - 6 1 Denise Emmerich
00019904 1 - - M - Italy Caucasian - 0 - - NF-1 Café-au-lait spots, freckling, macrocephaly, pectus excavatum 1 1 Alessandro De Luca
00019941 2 - - M - Italy Caucasian - 0 - - NF-1 Café-au-lait spots, freckling, pectus excavatum, scapular winging, scoliosis, ptosis, triangular face, close palate, low set posteriorly rotated ears, mild joint laxity, skin hyperelasticity, easy extensibility of the ears, flat feet, celiac disease, narrowing of the peripheral nasal visual field 1 1 Alessandro De Luca
00019942 3 - - F - Italy Caucasian - 0 - - NF-1 Café-au-lait spots, freckling, macrocephaly, pectus excavatum, hypertelorism, low set posteriorly rotated ears, short neck 1 1 Alessandro De Luca
00019943 F4,II:2 - - F - Italy Caucasian - 0 - - NF-1 Café-au-lait spots, freckling, short stature, low set ears, ptosis 1 1 Alessandro De Luca
00019944 F4,III:1 - - M - Italy Caucasian - 0 - - NF-1 Café-au-lait spots, low set ears, hypertelorism 1 1 Alessandro De Luca
00019945 F5,II:3 - - M - Italy Caucasian - 0 - - NF-1 Café-au-lait spots, freckling 1 1 Alessandro De Luca
00019946 F5,III:2 - - F - Italy Caucasian - 0 - - NF-1 Café-au-lait spots, freckling 1 1 Alessandro De Luca
00019947 F5,III:7 - - F - Italy Caucasian - 0 - - NF-1 Café-au-lait spots, freckling 1 1 Alessandro De Luca
00019948 F6,II:2 - - F - Italy Caucasian - 0 - - NF-1 Café-au-lait spots, freckling, scoliosis 1 1 Alessandro De Luca
00024240 24896178_con PubMed: Gilissen 2014 - - - - - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00047871 26 PubMed: Ercolino 2014 - M - (Italy) - - 0 - - MINAS macrocephaly, café au lait patches and axillary freckling 57y; Kyphoscoliosis 57y; Multiple cutaneous neurofibromas 57y; Thyroid C-cell hyperplasia 57y; Parathyroid hyperplasia 57y 1 1 James Whitworth
00047872 27 PubMed: Campos 2013 - F - (Spain) - - 0 - - MINAS café au lait patches multiple cutaneous neurofibromas and Axillary/inguinal freckling in childhood; Breast infiltrating duct carcinoma 35y 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
00050702 25533962-Dec264096 PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - 0 Decipher - ? multiple cafe-au-lait spots, acanthosis nigricans, acanthosis nigricans, action tremor, facial palsy, degeneration of anterior horn cells, atrophy/degeneration involving motor neurons, muscle weakness, progressive muscle weakness 1 1 Johan den Dunnen
00064297 G75659/401 - - - - - - - 0 - - ? - 1 1 Glenda Beaman
00064298 G92765/301 - - - - - - - 0 - - ? - 1 1 Glenda Beaman
00064299 G21595/101 - - - - - - - 0 - - ? - 1 1 Glenda Beaman
00064300 15010327 - - - - - - - 0 - - ? - 1 1 Glenda Beaman
00064301 G65405/201 - - - - - - - 0 - - ? - 1 1 Glenda Beaman
00064302 G81763/201 - - - - - - - 0 - - ? - 1 1 Glenda Beaman
00064304 G60698/401 - - - - - - - 0 - - ? - 1 1 Glenda Beaman
00064305 G24020/401 - - - - - - - 0 - - ? - 1 1 Glenda Beaman
00064306 M12/000353 - - - - - - - 0 - - ? - 1 1 Glenda Beaman
00064307 G23810/201 - - - - - - - 0 - - ? - 1 1 Glenda Beaman
00064308 G72449/401 - - - - - - - 0 - - ? - 1 1 Glenda Beaman
00064309 GE2 - - - - - - - 0 - - ? - 1 1 Glenda Beaman
00064311 15018624 - - - - - - - 0 - - ? - 1 1 Glenda Beaman
00064312 G90856/401 - - - - - - - 0 - - ? - 1 1 Glenda Beaman
00064313 GE6 - - - - - - - 0 - - ? - 1 1 Glenda Beaman
00064314 G23903/201 - - - - - - - 0 - - ? - 1 1 Glenda Beaman
00064315 G72451/202 - - - - - - - 0 - - ? - 1 1 Glenda Beaman
00064316 G20602/302 - - - - - - - 0 - - ? - 1 1 Glenda Beaman
00064317 G76622/301 - - - - - - - 0 - - ? - 1 1 Glenda Beaman
00064318 G86848/401 - - - - - - - 0 - - ? - 1 1 Glenda Beaman
00064319 13006079 - - - - - - - 0 - - ? - 1 1 Glenda Beaman
00064320 G23383/401 - - - - - - - 0 - - ? - 2 1 Glenda Beaman
00064321 G22742/201 - - - - - - - 0 - - ? - 1 1 Glenda Beaman
00064322 G23149/301 - - - - - - - 0 - - ? - 2 1 Glenda Beaman
00064323 G89185/301 - - - - - - - 0 - - ? - 1 1 Glenda Beaman
00064324 G37366/302 - - - - - - - 0 - - ? - 1 1 Glenda Beaman
00064325 G22610/401 - - - - - - - 0 - - ? - 1 1 Glenda Beaman
00064326 G23306/401 - - - - - - - 0 - - ? - 1 1 Glenda Beaman
00064327 G23868/40 - - - - - - - 0 - - ? - 1 1 Glenda Beaman
00064328 G24116/401 - - - - - - - 0 - - ? - 1 1 Glenda Beaman
00064329 G88468/401 - - - - - - - 0 - - ? - 1 1 Glenda Beaman
00064330 G87261/401 - - - - - - - 0 - - ? - 1 1 Glenda Beaman
00064331 GE7 - - - - - - - 0 - - ? - 1 1 Glenda Beaman
00064332 M13/012774 - - - - - - - 0 - - ? - 1 1 Glenda Beaman
00064333 G96269/301 - - - - - - - 0 - - ? - 1 1 Glenda Beaman
00064334 GE8 - - - - - - - 0 - - ? - 1 1 Glenda Beaman
00064335 GE9 - - - - - - - 0 - - ? - 1 1 Glenda Beaman
00064336 G22080/201 - - - - - - - 0 - - ? - 1 1 Glenda Beaman
00064337 G76888 - - - - - - - 0 - - ? - 1 1 Glenda Beaman
00064338 G20774/301 - - - - - - - 0 - - ? - 1 1 Glenda Beaman
00064339 G22742/302 - - - - - - - 0 - - ? - 1 1 Glenda Beaman
00064340 G24100/301 - - - - - - - 0 - - ? - 1 1 Glenda Beaman
00064341 G65335/301 - - - - - - - 0 - - ? - 1 1 Glenda Beaman
00064342 G89199/402 - - - - - - - 0 - - ? - 1 1 Glenda Beaman
00064343 GE10 - - - - - - - 0 - - ? - 1 1 Glenda Beaman
00064344 G47568/301 - - - - - - - 0 - - ? - 1 1 Glenda Beaman
00064345 GE11 - - - - - - - 0 - - ? - 1 1 Glenda Beaman
00064346 G60873/201 - - - - - - - 0 - - ? - 1 1 Glenda Beaman
00064347 G90850/301 - - - - - - - 0 - - ? - 1 1 Glenda Beaman
00064348 G63558/401 - - - - - - - 0 - - ? - 1 1 Glenda Beaman
00064349 G21821/301 - - - - - - - 0 - - ? - 1 1 Glenda Beaman
00064350 G20560/202 - - - - - - - 0 - - ? - 1 1 Glenda Beaman
00064351 G78221 - - - - - - - 0 - - ? - 1 1 Glenda Beaman
00064352 GE12 - - - - - - - 0 - - ? - 1 1 Glenda Beaman
00064353 G22365 - - - - - - - 0 - - ? - 1 1 Glenda Beaman
00064354 G69142/201 - - - - - - - 0 - - ? - 1 1 Glenda Beaman
00064355 G23637/301 - - - - - - - 0 - - ? - 1 1 Glenda Beaman
00064356 G87693/301 - - - - - - - 0 - - ? - 1 1 Glenda Beaman
00064357 G80974/301 - - - - - - - 0 - - ? - 1 1 Glenda Beaman
00064358 G94022/301 - - - - - - - 0 - - ? - 1 1 Glenda Beaman
00064359 G73008/301 - - - - - - - 0 - - ? - 1 1 Glenda Beaman
00064360 G21440/301 - - - - - - - 0 - - ? - 1 1 Glenda Beaman
00064361 G73642/301 - - - - - - - 0 - - ? - 1 1 Glenda Beaman
00064362 G89718 - - - - - - - 0 - - ? - 1 1 Glenda Beaman
00064363 G69861/401 - - - - - - - 0 - - ? - 1 1 Glenda Beaman
00064364 G22804/401 - - - - - - - 0 - - ? - 1 1 Glenda Beaman
00064365 G22711/401 - - - - - - - 0 - - ? - 1 1 Glenda Beaman
00064366 G96255 - - - - - - - 0 - - ? - 1 1 Glenda Beaman
00064367 G55186/401 - - - - - - - 0 - - ? - 1 1 Glenda Beaman
00064368 G50263/401 - - - - - - - 0 - - ? - 1 1 Glenda Beaman
00064369 G87586/401 - - - - - - - 0 - - ? - 1 1 Glenda Beaman
00064370 G65475/401 - - - - - - - 0 - - ? - 1 1 Glenda Beaman
00064371 G90371/401 - - - - - - - 0 - - ? - 1 1 Glenda Beaman
00064372 GE13 - - - - - - - 0 - - ? - 1 1 Glenda Beaman
00064373 GE14 - - - - - - - 0 - - ? - 1 1 Glenda Beaman
00064374 G70785/201 - - - - - - - 0 - - ? - 1 1 Glenda Beaman
00064375 G43185/304 - - - - - - - 0 - - ? - 1 1 Glenda Beaman
00064376 G73982/201 - - - - - - - 0 - - ? - 1 1 Glenda Beaman
00064377 G75041/201 - - - - - - - 0 - - ? - 1 1 Glenda Beaman
00064378 G24314/302 - - - - - - - 0 - - ? - 1 1 Glenda Beaman
00064379 G24314/301 - - - - - - - 0 - - ? - 1 1 Glenda Beaman
00064380 G51688/401 - - - - - - - 0 - - ? - 1 1 Glenda Beaman
00064381 G23371/301 - - - - - - - 0 - - ? - 1 1 Glenda Beaman
00064382 G24170/403 - - - - - - - 0 - - ? - 1 1 Glenda Beaman
00064383 G22365/301 - - - - - - - 0 - - ? - 1 1 Glenda Beaman
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