All individuals with variants in gene COL4A3

638 entries on 7 pages. Showing entries 1 - 100.
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AscendingIndividual ID     

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Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age/Death     

VIP     

Data_av     

Treatment     

Disease     

Phenotype details     

Variants     

Panel size     

Owner     
00018452 - PubMed: Bullich 2015, Journal: Bullich 2015 - - - Spain - - 0 - - NPHS congenital nephrotic syndrome, haematuria 1 1 Elisabet Ars Criach
00018453 - PubMed: Bullich 2015, Journal: Bullich 2015 - - - Spain - - 0 - - NPHS - 1 1 Elisabet Ars Criach
00018844 - PubMed: Bullich 2015, Journal: Bullich 2015 - - - Spain - - 0 - - ? - 1 1 Elisabet Ars Criach
00091300 - PubMed: Tazon Vega 2003 - - - Spain - - 0 - - ? - 1 1 Judy Savige
00091301 - PubMed: Longo 2002 - F - Italy - - 0 - - ASAR Micro-haematuria, proteinuria. CRF; hearing loss; glomerulus abnormal; 2 1 Judy Savige
00091302 - PubMed: Longo 2002 - M - Italy - - 0 - - ASAD Micro-haematuria, proteinuria.; no hearing loss; no ocular phenotype; 1 1 Judy Savige
00091303 - PubMed: Tazon Vega 2003 - F - Spain - - 0 - - ASAR hearing loss; abnormal ocular 2 1 Judy Savige
00091304 - PubMed: Badenas 2002 - - - Spain - - 0 - - BFH;TBMN no hearing loss; glomerulus abnormal 1 1 Judy Savige
00091305 - PubMed: Slajpah 2007 - - - Slovenia - - 0 - - ? - 1 1 Judy Savige
00091306 - PubMed: Wang 2004 - - - - - - 0 - - BFH;TBMN - 1 1 Judy Savige
00091307 - PubMed: Heidet 2001 - - - - - - 0 - - ASAR - 1 26 Judy Savige
00091308 - PubMed: Longo 2002 - - - Italy - - 0 - - ASAR - 1 1 Judy Savige
00091309 - PubMed: Tazon Vega 2003 - - - Spain - - 0 - - ? - 1 1 Judy Savige
00091310 - PubMed: Badenas 2002 - - - Spain - - 0 - - BFH;TBMN no hearing loss; glomerulus abnormal 1 1 Judy Savige
00091311 - PubMed: Tazon Vega 2003 - - - Spain - - 0 - - ? - 1 1 Judy Savige
00091312 - PubMed: Wang 2004 - - - - - - 0 - - ? - 1 1 Judy Savige
00091313 - PubMed: Tazon Vega 2003 - - - Spain - - 0 - - ? - 1 1 Judy Savige
00091314 - PubMed: Voskarides 2007 - - - Cyprus Greek-Cypriot - 0 - - ? - 1 1 Judy Savige
00091315 - PubMed: Wang 2004 - - - - - - 0 - - BFH;TBMN - 1 1 Judy Savige
00091316 - PubMed: Nagel 2005 - - - - - - 0 - - ASAR - 1 1 Judy Savige
00091317 - PubMed: Heidet 2001 - - - - - - 0 - - ASAR - 1 1 Judy Savige
00091318 - PubMed: Wang 2004 - - - - - - 0 - - BFH;TBMN no hearing loss; no ocular phenotype; 1 1 Judy Savige
00091319 - PubMed: Hoefele 2010 - M - Italy - - 0 - - BFH;TBMN Paternal Grandfather ESRD at 70; no hearing loss; no ocular phenotype; 1 1 Judy Savige
00091320 - PubMed: Nagel 2005 - - - - - - 0 - - ? - 1 1 Judy Savige
00091321 - PubMed: Wang 2004 - - - - - - 0 - - ? - 1 1 Judy Savige
00091322 - PubMed: Badenas 2002 - - - Spain - - 0 - - BFH;TBMN no hearing loss; glomerulus abnormal 1 1 Judy Savige
00091323 - PubMed: Badenas 2002 - - - Spain - - 0 - - BFH;TBMN no hearing loss; glomerulus abnormal 1 1 Judy Savige
00091324 - PubMed: Wang 2004 - - - - - - 0 - - BFH;TBMN - 1 1 Judy Savige
00091325 - PubMed: Hoefele 2010 - M - Italy - - 0 - - BFH;TBMN no hearing loss; no ocular phenotype; 1 1 Judy Savige
00091326 - PubMed: Slajpah 2007 - - - Slovenia - - 0 - - BFH;TBMN - 1 1 Judy Savige
00091327 - PubMed: Tazon Vega 2003 - - - Spain - - 0 - - ? - 1 1 Judy Savige
00091328 - PubMed: Heidet 2001 - - - - - - 0 - - ASAR - 1 14 Judy Savige
00091329 - PubMed: Longo 2002 - - - Italy - - 0 - - ? - 1 1 Judy Savige
00091330 - PubMed: Voskarides 2007 - - - Cyprus Greek-Cypriot - 0 - - ? - 1 1 Judy Savige
00091331 - PubMed: Badenas 2002 - - - Spain - - 0 - - BFH;TBMN no hearing loss; glomerulus abnormal 1 1 Judy Savige
00091332 - PubMed: Wang 2004 - - - - - - 0 - - BFH;TBMN - 1 1 Judy Savige
00091333 - PubMed: Voskarides 2007 - - - Cyprus Greek-Cypriot - 0 - - ? - 1 1 Judy Savige
00091334 - PubMed: Heidet 2001 - F;M - - - - 0 - - ASAR 20y / 25y renal failure; renal failure; 2 1 Judy Savige
00091335 - PubMed: Badenas 2002 - - - Spain - - 0 - - BFH;TBMN no hearing loss; glomerulus abnormal 1 1 Judy Savige
00091336 - PubMed: Slajpah 2007 - - - Slovenia - - 0 - - BFH;TBMN - 1 1 Judy Savige
00091337 - PubMed: Tazon Vega 2003 - - - Spain - - 0 - - ? - 1 1 Judy Savige
00091338 - PubMed: Longo 2002 - - - Italy - - 0 - - ? - 1 1 Judy Savige
00091339 - PubMed: Heidet 2001 - - - - - - 0 - - ASAR - 1 11 Judy Savige
00091340 - PubMed: Wang 2004 - - - - - - 0 - - BFH;TBMN - 1 1 Judy Savige
00091341 - PubMed: Voskarides 2007 - - - Cyprus Greek-Cypriot - 0 - - ? - 1 1 Judy Savige
00091342 - PubMed: Nagel 2005 - - - - - - 0 - - ASAR - 1 1 Judy Savige
00091343 - PubMed: Heidet 2001 - - - - - - 0 - - ASAR - 1 1 Judy Savige
00091344 - PubMed: Heidet 2001 - - - - - - 0 - - ASAR - 1 10 Judy Savige
00091345 - PubMed: Longo 2002 - - - Italy - - 0 - - ASAR - 1 1 Judy Savige
00091346 - PubMed: Badenas 2002 - - - Spain - - 0 - - BFH;TBMN no hearing loss; glomerulus abnormal 1 1 Judy Savige
00091347 - PubMed: Wang 2004 - - - - - - 0 - - BFH;TBMN - 1 1 Judy Savige
00091348 - PubMed: Van der Loop (2000) Kidney Int 58, 1870 - - - United Kingdom (Great Britain) Irish - 0 - - ASAD Micro-haematuria, proteinuria; 35y renal failure; hearing loss; renal failure; 1 1 Judy Savige
00091349 - PubMed: Heidet 2001 - - - - - - 0 - - ASAR - 1 5 Judy Savige
00091350 - PubMed: Tazon Vega 2003 - - - Spain - - 0 - - ? - 1 1 Judy Savige
00091351 - PubMed: Slajpah 2007 - - - Slovenia - - 0 - - BFH;TBMN - 1 1 Judy Savige
00091352 - PubMed: Wang 2004 - - - - - - 0 - - BFH;TBMN - 1 1 Judy Savige
00091353 - PubMed: Longo 2002 - - - Italy - - 0 - - BFH;TBMN - 1 1 Judy Savige
00091354 - PubMed: Rana 2007 - - - Australia - - 0 - - BFH;TBMN - 1 1 Judy Savige
00091355 - PubMed: Rana 2007 - - - Australia - - 0 - - BFH;TBMN - 1 1 Judy Savige
00091356 - PubMed: Tazon Vega 2003 consanguineous M - Spain - - 0 - - ASAR 37y renal failure; hearing loss; no ocular phenotype; renal failure 1 1 Judy Savige
00091357 - PubMed: Tazon Vega 2003 - F - Spain - - 0 - - BFH;TBMN Micro-haematuria.; no hearing loss; no ocular phenotype; 1 1 Judy Savige
00091358 - PubMed: Rana 2007 - M - Italy - - 0 - - ASAR hearing loss; abnormal ocular 1 1 Judy Savige
00091359 - PubMed: Badenas 2002 - - - Spain - - 0 - - BFH;TBMN no hearing loss; glomerulus abnormal 1 1 Judy Savige
00091360 - PubMed: Longo 2002 - - - Italy - - 0 - - ASAR - 1 1 Judy Savige
00091361 - PubMed: Tazon Vega 2003 - - - Spain - - 0 - - ? - 1 1 Judy Savige
00091362 - PubMed: Slajpah 2007 - - - Slovenia - - 0 - - BFH;TBMN - 1 1 Judy Savige
00091363 - PubMed: Wang 2004 - - - - - - 0 - - BFH;TBMN - 1 1 Judy Savige
00091364 - PubMed: Slajpah 2007 - - - Slovenia - - 0 - - BFH;TBMN Hematuria 1 1 Judy Savige
00091365 - PubMed: Longo 2006 consanguineous M - - Iraqi-Jewish - 0 - - ASAR Micro-haematuria, proteinuria. Type III Spinal Muscular Atrophy; 15y renal failure; hearing loss; abnormal ocular; renal failure 1 1 Judy Savige
00091366 - PubMed: Wang 2004 - F - Australia - - 0 - - BFH;TBMN micro-hematuria; no hearing loss; glomerulus abnormal; 1 1 Judy Savige
00091367 - PubMed: Nagel 2005 - - - - - - 0 - - ASAR - 1 1 Judy Savige
00091368 - PubMed: Heidet 2001 - - - - - - 0 - - ASAR - 1 35 Judy Savige
00091369 - PubMed: Tazon Vega 2003 - - - Spain - - 0 - - ? - 1 1 Judy Savige
00091370 - PubMed: Slajpah 2007 - - - Slovenia - - 0 - - BFH;TBMN - 1 1 Judy Savige
00091371 - PubMed: Wang 2004 - - - Australia - - 0 - - BFH;TBMN micro-hematuria; no hearing loss; glomerulus abnormal; 1 1 Judy Savige
00091372 - PubMed: Wang 2004 - - - Australia - - 0 - - BFH;TBMN no hearing loss; glomerulus abnormal 1 1 Judy Savige
00091373 - PubMed: Hou 2007 - M - China Han chinese - 0 - - ASAR haematuria proteinuria; 28y renal failure; hearing loss; abnormal ocular; renal failure; glomerulus abnormal 2 1 Judy Savige
00091374 - PubMed: Heidet 2001 - F - - - - 0 - - ASAR 23y renal failure; renal failure; 2 1 Judy Savige
00091375 - PubMed: Wang 2004 - - - - - - 0 - - BFH;TBMN - 1 1 Judy Savige
00091376 - PubMed: Wang 2004 - - - Australia - - 0 - - BFH;TBMN no hearing loss; glomerulus abnormal 1 1 Judy Savige
00091377 - PubMed: Rana 2007 - - - - - - 0 - - BFH;TBMN - 1 1 Judy Savige
00091378 - PubMed: Nagel 2005 - - - - - - 0 - - ASAR - 1 1 Judy Savige
00091379 - PubMed: Wang 2004 - - - Australia - - 0 - - BFH;TBMN micro-haematuria; no hearing loss; glomerulus abnormal; 1 1 Judy Savige
00091380 - PubMed: Tazon Vega 2003 - F - Spain - - 0 - - ASAR 38y renal failure; no hearing loss; no ocular phenotype; renal failure 1 1 Judy Savige
00091381 - PubMed: Heidet 2001 - - - - - - 0 - - ASAR - 1 1 Judy Savige
00091382 - PubMed: Tazon Vega 2003 - - - Spain - - 0 - - ? - 1 1 Judy Savige
00091383 - PubMed: Voskarides 2007 - - - Cyprus Greek-Cypriot - 0 - - ? - 1 1 Judy Savige
00091384 - PubMed: Nagel 2005 - - - - - - 0 - - ASAR - 1 1 Judy Savige
00091385 - PubMed: Voskarides 2007 - - - Cyprus Greek-Cypriot - 0 - - ASAR Microscopic hematuria. 1 3 Judy Savige
00091386 - PubMed: Pierides 2009 - - - Cyprus Greek-Cypriot - 0 - - ASAR progressive kidney failure 1 4 Judy Savige
00091387 - PubMed: Heidet 2001 - - - - - - 0 - - ASAR - 1 1 Judy Savige
00091388 - PubMed: Heidet 2001 - - - - - - 0 - - ASAR - 1 2 Judy Savige
00091389 - PubMed: Wang 2004 - - - - - - 0 - - BFH;TBMN - 1 1 Judy Savige
00091390 - PubMed: Longo 2002 - - - Italy - - 0 - - ASAR - 1 1 Judy Savige
00091391 - PubMed: Badenas 2002 - - - Spain - - 0 - - BFH;TBMN micro-hematuria; no hearing loss; glomerulus abnormal; 1 1 Judy Savige
00091392 - PubMed: Wang 2004 - - - Italy - - 0 - - BFH;TBMN micro-haematuria, proteinuria.; no hearing loss; glomerulus abnormal; 1 1 Judy Savige
00091393 - PubMed: Badenas 2002 - - - Spain - - 0 - - BFH;TBMN Micro-haematuria, Serum creatinine: 0.8mg/dL. ; no hearing loss; glomerulus abnormal; 1 1 Judy Savige
00091394 - PubMed: Tazon Vega 2003 - F - Spain - - 0 - - ASAR no hearing loss; no ocular phenotype; 2 1 Judy Savige
00091395 - PubMed: Slajpah 2007 - - - Slovenia - - 0 - - BFH;TBMN - 1 1 Judy Savige
00091396 - PubMed: Pescucci 2004 - M - Italy - - 0 - - ASAD Micro-haematuria, proteinuria. CRF.; hearing loss; glomerulus abnormal; 1 1 Judy Savige
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