All individuals with variants in gene COL2A1

957 entries on 10 pages. Showing entries 1 - 100.
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AscendingIndividual ID     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Disease     

Phenotype details     

Variants     

Panel size     

Owner     
00024278 - - 2-generation family, 4-affecteds (3F, M) - - United States - - 0 - - SEDC - 1 4 Johan den Dunnen
00024279 - - - - - United States - - 0 - - ACG2 hypochondrogenesis 2 1 Johan den Dunnen
00024280 - - unaffected carrier mother patient 2572591-Pat - - United States - - 0 - - Healthy/Control - 2 1 Johan den Dunnen
00024281 - - - - - United States - - 0 - - Healthy/Control - 1 8 Johan den Dunnen
00024282 - - - - - United States - - 0 - - ACG2 hypochondrogenesis 1 1 Johan den Dunnen
00024283 - - - - - ? (unknown) - - 0 - - ACG2 hypochondrogenesis 1 1 Johan den Dunnen
00024284 - - - - - ? (unknown) - - 0 - - STL1 arthroophthalmopathy 1 1 Johan den Dunnen
00024285 - PubMed: Ahmad 1991 - - - ? (unknown) - - 0 - - STL1 - 1 1 Johan den Dunnen
00024286 - - - - - ? (unknown) - - 0 - - SED - 1 1 Johan den Dunnen
00024287 - - - - - ? (unknown) - - 0 - - OSCDP - 1 1 Johan den Dunnen
00024288 - - - - - ? (unknown) - - 0 - - STL1 arthroophthalmopathy 1 1 Johan den Dunnen
00024289 - - - - - ? (unknown) - - 0 - - SEMDSTWK - 1 1 Johan den Dunnen
00024290 - - - - - ? (unknown) - - 0 - - SEMDSTWK - 1 1 Johan den Dunnen
00024291 - - - - - ? (unknown) - - 0 - - SEMDSTWK - 1 1 Johan den Dunnen
00024292 - - - - - ? (unknown) - - 0 - - SED - 1 1 Johan den Dunnen
00024293 - - - - - ? (unknown) - - 0 - - STL1 - 1 1 Johan den Dunnen
00024294 - - - - - ? (unknown) - - 0 - - ACG2 - 1 1 Johan den Dunnen
00024295 - - - - - ? (unknown) - - 0 - - ACG2 hypochondrogenesis 1 1 Johan den Dunnen
00024296 - - - - - ? (unknown) - - 0 - - ACG2 hypochondrogenesis 1 1 Johan den Dunnen
00024297 - - - - - ? (unknown) - - 0 - - ACG2 hypochondrogenesis 1 1 Johan den Dunnen
00024298 - - - - - ? (unknown) - - 0 - - OSCDP - 1 1 Johan den Dunnen
00024299 - - - - - ? (unknown) - - 0 - - ACG2 - 1 1 Johan den Dunnen
00024300 - - - - - United States - - 0 - - SEDC - 1 1 Johan den Dunnen
00024301 - - affected father and daugther - - Germany - - 0 - - SEDC - 1 2 Johan den Dunnen
00024302 - - - - - ? (unknown) - - 0 - - SPDA - 1 1 Johan den Dunnen
00024303 - - - - - ? (unknown) - - 0 - - SEDC - 1 1 Johan den Dunnen
00024304 - - - - - United States - - 0 - - Kniest - 1 1 Johan den Dunnen
00024305 - - - - - ? (unknown) - - 0 - - SED - 1 1 Johan den Dunnen
00024306 - - - - - ? (unknown) - - 0 - - ACG2 hypochondrogenesis 1 1 Johan den Dunnen
00024307 - - - - - ? (unknown) - - 0 - - SED - 1 1 Johan den Dunnen
00024308 - - - M no Finland - - 0 - - STL1 - 1 4 Isabelle Touitou
00024309 - - - - - ? (unknown) - - 0 - - SED - 1 1 Johan den Dunnen
00024310 - - - - - ? (unknown) - - 0 - - STL1 - 1 1 Johan den Dunnen
00024311 - PubMed: Ahmad 1993 mother of patient IV-1 and IV-5 F - ? (unknown) - - 0 - - STL1 - 1 3 Johan den Dunnen
00024312 - - - - - ? (unknown) - - 0 - - ? osteochondrodysplasia 1 1 Johan den Dunnen
00024313 - - - - - ? (unknown) - - 0 - - SED - 1 1 Johan den Dunnen
00024314 - - - - - ? (unknown) - - 0 - - ACG2 hypochondrogenesis 1 1 Johan den Dunnen
00024315 - - - - - ? (unknown) - - 0 - - SEDC - 1 1 Johan den Dunnen
00024316 - - - - - ? (unknown) - - 0 - - SEDC - 1 1 Johan den Dunnen
00024317 - - - - - ? (unknown) - - 0 - - ACG2 - 1 1 Johan den Dunnen
00024318 - - - - - ? (unknown) - - 0 - - ACG2 - 1 1 Johan den Dunnen
00024319 - - - - - ? (unknown) - - 0 - - ACG2 - 1 1 Johan den Dunnen
00024320 - - - - - ? (unknown) - - 0 - - Kniest - 1 1 Johan den Dunnen
00024321 - - - - - ? (unknown) - - 0 - - SEDC - 1 1 Johan den Dunnen
00024322 - - - - - ? (unknown) - - 0 - - Kniest - 1 1 Johan den Dunnen
00024323 - PubMed: Ballo 1998 - - - ? (unknown) - - 0 - - STL1 - 1 4 Johan den Dunnen
00024324 - - - - - ? (unknown) - - 0 - - SEDC - 1 1 Johan den Dunnen
00024325 - - - - - ? (unknown) - - 0 - - SEDC - 1 1 Johan den Dunnen
00024326 - - - - - ? (unknown) - - 0 - - SEDC - 1 1 Johan den Dunnen
00024327 - - - - - ? (unknown) - - 0 - - STL1 - 1 1 Johan den Dunnen
00024328 - - - - - ? (unknown) - - 0 - - STL1 - 1 1 Johan den Dunnen
00024329 - - - - - ? (unknown) - - 0 - - STL1 - 1 1 Johan den Dunnen
00024330 - - - - - ? (unknown) - - 0 - - STL1 - 1 1 Johan den Dunnen
00024331 - - - - - ? (unknown) - - 0 - - STL1 - 1 1 Johan den Dunnen
00024332 - - - - - ? (unknown) - - 0 - - STL1 - 1 1 Johan den Dunnen
00024333 - - - - - ? (unknown) - - 0 - - STL1 - 1 1 Johan den Dunnen
00024334 - - - - - ? (unknown) - - 0 - - SED - 1 1 Johan den Dunnen
00024335 - - - - - ? (unknown) - - 0 - - STL1 - 1 1 Johan den Dunnen
00024336 - PubMed: Richards 2000, PubMed: Richards 2006 - - ? (United Kingdom (Great Britain)) - - 0 - - STL1 Significant auditory and skeletal abnormalities 1 2 Isabelle Touitou
00024337 - PubMed: Richards 2000, PubMed: Richards 2006 - - no (United Kingdom (Great Britain)) - - 0 - - Stickler sydrome, type I, nonsyndromic ocular Predominant ocular 1 8 Isabelle Touitou
00024338 - PubMed: Richards 2000, PubMed: Richards 2006 - - no (United Kingdom (Great Britain)) - - 0 - - Stickler sydrome, type I, nonsyndromic ocular Predominant ocular 1 7 Isabelle Touitou
00024339 - PubMed: Richards 2000, PubMed: Richards 2006 - - no (United Kingdom (Great Britain)) - - 0 - - Stickler sydrome, type I, nonsyndromic ocular Predominant ocular 1 9 Isabelle Touitou
00024340 - PubMed: Richards 2000, PubMed: Richards 2006 - - no (United Kingdom (Great Britain)) - - 0 - - STL1 Significant auditory and skeletal abnormalities 1 3 Isabelle Touitou
00024341 - - - - no (United Kingdom (Great Britain)) - - 0 - - STL1 Significant auditory and skeletal abnormalities 1 3 Isabelle Touitou
00024342 - - - - no (United Kingdom (Great Britain)) - - 0 - - STL1 Significant auditory and skeletal abnormalities 1 2 Isabelle Touitou
00024343 - PubMed: Mortier 2000 - F - United States - <00y00m01d 0 - - ACG2 see paper; died after 10h, ..., hypochondrogenesis 1 1 Johan den Dunnen
00024344 - PubMed: Mortier 2000 - F - United States - 00y00m02d 0 - - ACG2 see paper; ..., hypochondrogenesis 1 1 Johan den Dunnen
00024345 - PubMed: Mortier 2000 - F - United States - 01y01m 0 - - ACG2 see paper; ..., hypochondrogenesis 1 1 Johan den Dunnen
00024346 - PubMed: Mortier 2000 - M - United States - 00y13m 0 - - ACG2 see paper; ..., hypochondrogenesis; remarkable phenotype radiographically by more metaphyseal involvement and clinically by absence of respiratory insufficiency in the postnatal period; died at 13m 1 1 Johan den Dunnen
00024347 - PubMed: Mortier 2000 - F - United States - 00y00m04d 0 - - SED see paper; ... 1 1 Johan den Dunnen
00024348 - - - F ? ? (unknown) - <0d 0 - - ACG2 - 1 1 Isabelle Touitou
00024349 - - - F ? ? (unknown) - <0d 0 - - ACG2 - 1 1 Isabelle Touitou
00024350 - - - F ? ? (unknown) - <0d 0 - - ACG2 - 1 1 Isabelle Touitou
00024351 - - - M ? ? (unknown) - <0d 0 - - ACG2 - 1 1 Isabelle Touitou
00024352 - - - M ? ? (unknown) - <0d 0 - - ACG2 - 1 1 Isabelle Touitou
00024353 - - - M ? ? (unknown) - <0d 0 - - ACG2 hypochondrogenesis 1 1 Isabelle Touitou
00024354 - - - F ? ? (unknown) - <0d 0 - - ACG2 - 1 1 Isabelle Touitou
00024355 - - - F no ? (unknown) - <0d 0 - - ACG2 - 1 1 Isabelle Touitou
00024356 - - - F ? ? (unknown) - <0d 0 - - ACG2 - 1 1 Isabelle Touitou
00024357 - - - F ? ? (unknown) - <0d 0 - - ACG2 - 1 1 Isabelle Touitou
00024358 - - - F ? ? (unknown) - <0d 0 - - ACG2 hypochondrogenesis 1 1 Isabelle Touitou
00024359 - - - F ? ? (unknown) - <0d 0 - - ACG2 hypochondrogenesis 1 1 Isabelle Touitou
00024360 - - - - - ? (unknown) - - 0 - - STL1 - 1 1 Johan den Dunnen
00024361 - PubMed: Liberfarb 2003 - F no (United Kingdom (Great Britain)) - - 0 - - STL1 - 1 1 Isabelle Touitou
00024362 - - - - no (United Kingdom (Great Britain)) - - 0 - - STL1 - 1 9 Isabelle Touitou
00024363 - - - F - United States - - 0 - - SED - 1 1 Johan den Dunnen
00024364 - - - - - ? (unknown) - - 0 - - Stickler sydrome, type I, nonsyndromic ocular vitreoretinal degeneration, Wagner 1 1 Johan den Dunnen
00024365 - - - - - ? (unknown) - - 0 - - Stickler sydrome, type I, nonsyndromic ocular vitreoretinopathy with phalang; dysplasia, epiphysial 1 1 Johan den Dunnen
00024366 - - - - - ? (unknown) - - 0 - - STL1 - 1 1 Johan den Dunnen
00024367 - - - - - ? (unknown) - - 0 - - STL1 - 1 1 Johan den Dunnen
00024368 - PubMed: Liberfarb 2003 - - ? (United States) - - 0 - - STL1 - 1 11 Isabelle Touitou
00024369 - - - - - ? (unknown) - - 0 - - STL1 - 1 1 Isabelle Touitou
00024370 - PubMed: Liberfarb 2003 - - ? (United States) - - 0 - - STL1 - 1 4 Isabelle Touitou
00024371 - PubMed: Liberfarb 2003 - - ? (United States) - - 0 - - STL1 - 1 1 Isabelle Touitou
00024372 - PubMed: Nishimura 2005 - - ? (United States) - - 0 - - STL1 - 1 8 Isabelle Touitou
00024373 - - - - - ? (unknown) - - 0 - - SEMDSTWK - 1 1 Johan den Dunnen
00024374 - - - - - ? (unknown) - - 0 - - SEMDSTWK - 1 1 Johan den Dunnen
00024375 - - - - - ? (unknown) - - 0 - - PLSDT - 1 1 Johan den Dunnen
00024376 - - - - - ? (unknown) - - 0 - - PLSDT - 1 1 Johan den Dunnen
00024377 - - - - - ? (unknown) - - 0 - - ACG2 - 1 1 Johan den Dunnen
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