Unique variants in the COL2A1 gene

Information The variants shown are described using the NM_001844.4 transcript reference sequence.

706 entries on 8 pages. Showing entries 1 - 100.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
-/. 1 - c.-119C>T r.(?) p.(=) - benign g.48398223G>A g.48004440G>A - - COL2A1_000568 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.-13C>A r.(?) p.(=) - likely benign g.48398117G>T g.48004334G>T COL2A1(NM_001844.4):c.-13C>A - COL2A1_000603 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 4 _1_54_ c.(?_-181)_(*442_?) r.0, r.spl p.0, p.? - pathogenic g.(?_48398104)_(48367189_?)del - Del exons 1-54 Gene deletion, del gene - COL2A1_000327 - PubMed: Hoornaert 2010, PubMed: Richards 2010 - - Unknown - - - - - Isabelle Touitou
+/. 2 1 c.1A>G r.(?) p.(Met1?), p.M1? - pathogenic g.48398104T>C g.48004321T>C - - COL2A1_000231 VKGL data sharing initiative Nederland PubMed: Richards 2010 - - CLASSIFICATION record, Unknown - - - - - Isabelle Touitou, VKGL-NL_Nijmegen
+/+ 1 1 c.3G>T r.(?) p.M1? - pathogenic g.48398102C>A g.48004319C>A - - COL2A1_000171 - PubMed: Richards 2007 - - Germline - - - - - Isabelle Touitou
?/. 1 - c.8G>T r.(?) p.(Arg3Leu) - VUS g.48398097C>A g.48004314C>A - - COL2A1_000567 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 5 1 c.25A>T r.(?) p.(Thr9Ser) - benign g.48398080T>A g.48004297T>A COL2A1(NM_001844.4):c.25A>T (p.T9S), COL2A1(NM_001844.5):c.25A>T (p.T9S) - COL2A1_000401 VKGL data sharing initiative Nederland - - rs3803183 CLASSIFICATION record, Germline - - - - - Andreas Laner, VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Nijmegen, VKGL-NL_VUmc
+/. 1 1 c.26C>A r.(?) p.(Thr9Lys) - pathogenic g.48398079G>T g.48004296G>T p.S9X according to NM_001844.3 - COL2A1_000310 - PubMed: Richards 2006 - - Unknown - - - - - Isabelle Touitou
?/. 1 - c.49G>T r.(?) p.(Val17Phe) - VUS g.48398056C>A g.48004273C>A COL2A1(NM_001844.4):c.49G>T (p.V17F) - COL2A1_000657 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.65G>A r.(?) p.(Arg22Gln) - VUS g.48398040C>T g.48004257C>T COL2A1(NM_001844.4):c.65G>A (p.R22Q) - COL2A1_000602 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.69T>A r.(?) p.(Cys23*) - pathogenic g.48398036A>T - COL2A1(NM_001844.4):c.69T>A (p.C23*) - COL2A1_000733 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/. 1 1 c.70C>T r.(?) p.(Gln24*) - pathogenic g.48398035G>A g.48004252G>A - - COL2A1_000277 - - - - Unknown - - - - - Isabelle Touitou
+/. 1 1 c.74G>C r.(?) p.(G25A) - pathogenic g.48398031C>G g.48004248C>G - - COL2A1_000184 - PubMed: Zechi-Ceide 2008 - - Unknown - - - - - Johan den Dunnen
+?/. 1 1 c.85C>T r.(?) p.(Gln29*) - likely pathogenic g.48398020G>A g.48004237G>A - - COL2A1_000510 - PubMed: Wang 2016 - - De novo ? - - - - Mouna Barat-Houari
-?/. 1 - c.85+9T>C r.(=) p.(=) - likely benign g.48398011A>G - COL2A1(NM_001844.4):c.85+9T>C - COL2A1_000732 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 5 1i c.85+18C>G r.(=) p.(=) - benign g.48398002G>C g.48004219G>C COL2A1(NM_001844.4):c.85+18C>G, COL2A1(NM_001844.5):c.85+18C>G - COL2A1_000402 VKGL data sharing initiative Nederland - - rs3803184 CLASSIFICATION record, Germline - - - - - Andreas Laner, VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Nijmegen, VKGL-NL_VUmc
+/. 1 1i_16i c.85+1360_1023+555del r.(?) p.? - pathogenic g.48386108_48396662del g.47992325_48002879del - - COL2A1_000397 - - - - Unknown - - - - - Isabelle Touitou
+?/. 2 2 c.115C>T r.(?) p.(Gln39*) - likely pathogenic g.48393879G>A g.48000096G>A - - COL2A1_000491 - PubMed: Stone 2017, PubMed: Tompson 2017 - - Germline ? - - - - Mouna Barat-Houari
+/. 1 2 c.123T>A r.(?) p.(Tyr41*) - pathogenic g.48393871A>T g.48000088A>T - - COL2A1_000223 - PubMed: Richards 2010 - - Unknown - - - - - Isabelle Touitou
+/. 1 2 c.141G>A r.(?) p.(Trp47*) - pathogenic g.48393853C>T g.48000070C>T 4246 G-A W47X (N-propeptide) - COL2A1_000056 - PubMed: Richards 2000 - - Germline - - - - - Isabelle Touitou
?/. 1 - c.146C>T r.(?) p.(Pro49Leu) - VUS g.48393848G>A g.48000065G>A - - COL2A1_000656 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 2 c.146del r.(?) p.(Pro49Argfs*19) - pathogenic g.48393849del g.48000066del c.146delC - COL2A1_000226 - PubMed: Richards 2010 - - Unknown - - - - - Isabelle Touitou
-/. 1 - c.147G>A r.(?) p.(Pro49=) - benign g.48393847C>T g.48000064C>T COL2A1(NM_001844.4):c.147G>A (p.P49=) - COL2A1_000655 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 1 2 c.158_161dup r.(?) p.(Ile54Metfs*6) - pathogenic g.48393833_48393836dup g.48000050_48000053dup 4266 ins 4 bp in exon 2 with Frameshift stop in Exon 2 - COL2A1_000057 - PubMed: Richards 2000 - - Unknown - - - - - Isabelle Touitou
+/., +?/. 5 2 c.166_167del r.(?) p.(Val56Leufs*2) - likely pathogenic, pathogenic g.48393830_48393831del g.48000047_48000048del 4269 del 2 bp with a frameshift: stop in exon 2, c.166_167delGT, COL2A1 c.166_167delGT, p.Val56fs - COL2A1_000058 heterozygous PubMed: Liu 2020, PubMed: Richards 2000, PubMed: Richards 2010 - - Germline, Germline/De novo (untested), Unknown ?, yes 1/64 - - - Isabelle Touitou, Mouna Barat-Houari, Nicole Van Gundy
+/+ 1 2 c.170G>A r.(?) p.(Cys57Tyr) - pathogenic g.48393824C>T g.48000041C>T - - COL2A1_000174 - PubMed: McAlinden 2008 - - Unknown - - - - - Isabelle Touitou
+/. 1 2 c.171_172del r.(?) p.(Cys57Ter) - pathogenic g.48393824_48393825del g.48000041_48000042del 171_172delTG - COL2A1_000082 - PubMed: Gupta 2002 - - Unknown - - - - - Johan den Dunnen
+/+, +/. 5 2 c.192C>A r.(?) p.(Cys64*), p.(Cys64Ter) - pathogenic g.48393802G>T g.48000019G>T COL2A1(NM_001844.5):c.192C>A (p.C64*) - COL2A1_000175 VKGL data sharing initiative Nederland PubMed: McAlinden 2008, PubMed: Richards 2010 - - CLASSIFICATION record, Unknown - - - - - Isabelle Touitou, VKGL-NL_Groningen, VKGL-NL_Nijmegen
+/+, +/. 2 2 c.211_233dup r.(?) p.(Glu79Thrfs*2) - pathogenic g.48393761_48393783dup g.47999978_48000000dup c.211_233dup23 - COL2A1_000278 - PubMed: Hoornaert 2010, PubMed: Richards 2010 - - Unknown - - - - - Isabelle Touitou
-/., -?/. 4 - c.213C>T r.(?) p.(Asp71=) - benign, likely benign g.48393781G>A g.47999998G>A COL2A1(NM_001844.4):c.213C>T (p.D71=, p.(Asp71=)) - COL2A1_000566 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_Nijmegen, VKGL-NL_VUmc
-?/. 1 - c.214G>A r.(?) p.(Val72Met) - likely benign g.48393780C>T - COL2A1(NM_001844.4):c.214G>A (p.V72M) - COL2A1_000707 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 2 2 c.219_221delinsGG r.(?) p.(Asp74Alafs*43) - pathogenic g.48393773_48393775delinsCC g.47999990_47999992delinsCC - - COL2A1_000477 - - - - Germline ?, yes - - - - Mouna Barat-Houari
+/. 1 2 c.221del r.(?) p.(Asp74Alafs*43) - pathogenic g.48393773del g.47999990del - - COL2A1_000370 - - - - Unknown - - - - - Isabelle Touitou
+/. 2 2 c.237del r.(?) p.(Ile80Serfs*37) - likely pathogenic, pathogenic g.48393757del g.47999974del 237delG - COL2A1_000139, COL2A1_000494 - PubMed: Yoshida 2006, PubMed: Yoshida S - - Germline, Unknown ? - - - - Johan den Dunnen, Mouna Barat-Houari
-?/. 1 - c.246C>T r.(?) p.(Phe82=) - likely benign g.48393748G>A g.47999965G>A COL2A1(NM_001844.4):c.246C>T (p.F82=) - COL2A1_000667 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/., +?/. 4 2 c.258C>A r.(?) p.(C86*), p.(Cys86*) - likely pathogenic, pathogenic g.48393736G>T g.47999953G>T p.(Cys86*) - COL2A1_000084 2 heterozygous, no homozygous; Clinindb (India) PubMed: Donoso 2002, PubMed: Narang 2020, Journal: Narang 2020, PubMed: Parma 2002, PubMed: Stone 2017 - rs794727261 Germline, Unknown - 2/2795 individuals - - - Johan den Dunnen, Isabelle Touitou, Mohammed Faruq
+/. 1 2 c.266_278del r.(?) p.(Cys89Serfs*24) - pathogenic g.48393718_48393730del g.47999935_47999947del 264_270delCTGCCCA - COL2A1_000199 - PubMed: Hoornaert 2010 - - Unknown - - - - - Isabelle Touitou
?/. 1 2i c.292+157C>A r.(=) p.(=) - VUS g.48393545G>T g.47999762G>T - - COL2A1_000403 - - - - Unknown - - - - - Allan Richards
+/. 1 2i c.293-1G>A r.spl p.? - pathogenic g.48392215C>T g.47998432C>T - - COL2A1_000312 - - - - Unknown - - - - - Isabelle Touitou
+/. 1 - c.309+1G>A r.spl? p.? - pathogenic g.48392197C>T g.47998414C>T - - COL2A1_000565 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 4 c.311del r.(?) p.(Gly104Aspfs*13) - pathogenic g.48391985del g.47998202del - - COL2A1_000495 - PubMed: Kondo 2016 - - Germline yes - - - - Mouna Barat-Houari
-?/. 1 - c.319G>A r.(?) p.(Gly107Arg) - likely benign g.48391975C>T g.47998192C>T - - COL2A1_000564 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.324A>T r.(?) p.(Glu108Asp) - VUS g.48391970T>A - COL2A1(NM_001844.4):c.324A>T (p.(Glu108Asp)) - COL2A1_000743 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 2 - c.326C>G r.(?) p.(Pro109Arg) - likely benign g.48391968G>C g.47998185G>C COL2A1(NM_001844.4):c.326C>G (p.P109R) - COL2A1_000563 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_AMC
+/. 1 4i c.342+1G>A r.spl p.(Asp114_Ile115insIleSerAlaAsnTyrSerHisProValLeuGlnLeuLeu*14) - pathogenic g.48391951C>T g.47998168C>T - - COL2A1_000279 - PubMed: Hoornaert 2010 - - Unknown - - - - - Isabelle Touitou
+/. 1 5 c.351_352ins(10) r.(?) p.? - pathogenic g.48391838_48391839insN[10] - 10 bp insertion after codon 48 - COL2A1_000462 - PubMed: Brown 1995 - - Unknown - - - - - Isabelle Touitou
+?/. 1 - c.386G>A r.(?) p.(Gly129Glu) - likely pathogenic g.48391697C>T g.47997914C>T COL2A1(NM_001844.4):c.386G>A (p.G129E) - COL2A1_000601 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/., ?/. 2 6 c.398C>A r.(?) p.(Pro133His) - pathogenic, VUS g.48391685G>T g.47997902G>T - - COL2A1_000388 VKGL data sharing initiative Nederland - - - CLASSIFICATION record, Unknown - - - - - Isabelle Touitou, VKGL-NL_Nijmegen
+/. 1 6 c.406dup r.(?) p.(Asp136Glyfs*4) - pathogenic g.48391680dup g.47997897dup c.406dupG - COL2A1_000245 - PubMed: Richards 2010 - - Unknown - - - - - Isabelle Touitou
+/. 2 6 c.409C>T r.(?) p.(Arg137Cys) - pathogenic g.48391674G>A g.47997891G>A - - COL2A1_000390 VUS or incomplete penetrance Barat-Houari et al, pers.comm. - - Unknown - - - - - Isabelle Touitou
+/., ?/. 2 6 c.410G>A r.(?) p.(Arg137His) - pathogenic, VUS g.48391673C>T g.47997890C>T COL2A1(NM_001844.4):c.410G>A (p.R137H) - COL2A1_000391 VKGL data sharing initiative Nederland - - - CLASSIFICATION record, Unknown - - - - - Isabelle Touitou, VKGL-NL_Rotterdam
-/. 2 - c.426A>T r.(?) p.(Glu142Asp) - benign g.48391657T>A g.47997874T>A COL2A1(NM_001844.4):c.426A>T (p.(Glu142Asp), p.E142D) - COL2A1_000600 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_VUmc
+/. 1 6i c.430-1G>C r.spl p.(Lys143_Asn178delExon7); p.(Gly144Valfs*54); p.(Gln125_Gly126ins19*20) - pathogenic g.48391491C>G g.47997708C>G - - COL2A1_000280 cDNA analysis reveals that this splice site mutation generate 3 RNA isoforms PubMed: Hoornaert 2010 - - Unknown - - - - - Isabelle Touitou
+/. 1 7 c.431G>T r.(?) p.(Gly144Val) - pathogenic g.48391489C>A g.47997706C>A - - COL2A1_000172 - PubMed: Richards 2007 - - Germline - - - - - Isabelle Touitou
?/. 1 7 c.434C>T r.(?) p.(Ala145Val) - VUS g.48391486G>A g.47997703G>A - - COL2A1_000262 - - - - Unknown - - - - - Isabelle Touitou
-?/. 1 - c.435C>G r.(?) p.(Ala145=) - likely benign g.48391485G>C g.47997702G>C - - COL2A1_000562 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 6 7 c.492del r.(?) p.(Gly165Valfs*34), p.(Gly165ValfsTer34) - pathogenic g.48391428del g.47997645del c.492delT - COL2A1_000156, COL2A1_000281, COL2A1_000313 VKGL data sharing initiative Nederland PubMed: Hoornaert 2010, PubMed: Richards 2006, PubMed: Richards 2010 - - CLASSIFICATION record, Unknown - - - - - Isabelle Touitou, VKGL-NL_Nijmegen
-/. 4 - c.504C>A r.(=), r.(?) p.(=), p.(Gly168=) - benign g.48391416G>T g.47997633G>T COL2A1(NM_001844.4):c.504C>A (p.G168=), COL2A1(NM_001844.5):c.504C>A (p.G168=) - COL2A1_000461 VKGL data sharing initiative Nederland - - rs3737548 CLASSIFICATION record, Germline - - - - - Andreas Laner, VKGL-NL_Groningen, VKGL-NL_Nijmegen, VKGL-NL_VUmc
?/. 1 - c.508C>A r.(?) p.(Pro170Thr) - VUS g.48391412G>T g.47997629G>T COL2A1(NM_001844.4):c.508C>A (p.P170T) - COL2A1_000654 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 7 c.509dup r.(?) p.(Gly171Trpfs*18) - pathogenic g.48391416dup g.47997633dup c.509dupC - COL2A1_000246 - PubMed: Richards 2010 - - Unknown - - - - - Isabelle Touitou
+/. 2 7 c.510del r.(?) p.(Gly171Valfs*28) - pathogenic g.48391410del g.47997627del - - COL2A1_000460 - PubMed: Nishimura 2005 - - Germline - - - - - Isabelle Touitou
+/. 2 7 c.513del r.(?) p.(Pro173LeufsTer26) - pathogenic g.48391407del g.47997624del 510delT - COL2A1_000135 - PubMed: Nishimura 2005 - - Unknown - - - - - Johan den Dunnen
+/. 1 - c.542C>T r.(?) p.(Ala181Val) - pathogenic g.48390398G>A g.47996615G>A - - COL2A1_000459 - - - - Germline - - - - - Andreas Laner
-?/. 1 - c.550G>A r.(?) p.(Ala184Thr) - likely benign g.48390390C>T - COL2A1(NM_001844.4):c.550G>A (p.A184T) - COL2A1_000678 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 20 8 c.556G>T r.(?) p.(Gly186*) - pathogenic g.48390384C>A g.47996601C>A - - COL2A1_000182 - PubMed: Zechi-Ceide 2008 - - Unknown - - - - - Johan den Dunnen, Isabelle Touitou
+/. 1 8 c.572del r.(?) p.(Ala191Valfs*8) - pathogenic g.48390368del g.47996585del c.572delC - COL2A1_000247 - PubMed: Richards 2010 - - Unknown - - - - - Isabelle Touitou
+/. 8 8 c.583dup r.(?) p.(Gln195Profs*35) - pathogenic g.48390359dup g.47996576dup c.583dupC Gln195GlufsX229 - COL2A1_000328 - PubMed: Zechi-Ceide 2008 - - Unknown - - - - - Isabelle Touitou
+/., +?/. 2 8 c.598C>T r.(?) p.(Gln200*) - likely pathogenic, pathogenic (dominant) g.48390342G>A g.47996559G>A c.598C>T - COL2A1_000689 - PubMed: Zhou 2018, PubMed: Zhou-2011 - - Germline, Unknown - - - - - LOVD
-/. 1 - c.606A>G r.(?) p.(Pro202=) - benign g.48390334T>C g.47996551T>C COL2A1(NM_001844.4):c.606A>G (p.P202=) - COL2A1_000653 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.610-8C>T r.(=) p.(=) - likely benign g.48389710G>A g.47995927G>A COL2A1(NM_001844.4):c.610-8C>T - COL2A1_000599 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/., -/., -?/. 4 8i c.610-7G>A r.(=), r.spl? p.(=) - benign, likely benign, likely pathogenic g.48389709C>T g.47995926C>T COL2A1(NM_001844.4):c.610-7G>A (p.(=), ) - COL2A1_000394 VKGL data sharing initiative Nederland - - - CLASSIFICATION record, Unknown - - - - - Isabelle Touitou, VKGL-NL_Leiden, VKGL-NL_Nijmegen, VKGL-NL_VUmc
+/. 1 9 c.611G>C r.(?) p.(Gly204Ala) - pathogenic g.48389701C>G g.47995918C>G - - COL2A1_000450 - PubMed: Kannu 2010 - - Germline - - - - - Isabelle Touitou
+/. 1 9 c.611G>T r.(?) p.(Gly204Val) - pathogenic g.48389701C>A g.47995918C>A - - COL2A1_000458 - PubMed: Rukavina 2014 - - Germline - - - - - Isabelle Touitou
+?/. 3 9 c.619G>A r.(?) p.(Gly207Arg) - likely pathogenic g.48389693C>T g.47995910C>T - - COL2A1_000405 - PubMed: Jurgens 2015 - - De novo, Germline, Germline/De novo (untested) yes - - - - Julie Jurgens
+/. 1 - c.620G>A r.(?) p.(Gly207Glu) - pathogenic g.48389692C>T - - - COL2A1_000706 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.623C>T r.(?) p.(Pro208Leu) - VUS g.48389689G>A - COL2A1(NM_001844.4):c.623C>T (p.P208L) - COL2A1_000731 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/. 10 9 c.625C>T r.(?) p.(Arg209*) - pathogenic g.48389687G>A g.47995904G>A p.Arg9* in exon 7, p.R9X in exon 7 - COL2A1_000031 - PubMed: Ahmad 1993, PubMed: Hoornaert 2010, PubMed: Liberfarb 2003, PubMed: Nishimura 2005 - - Germline, Unknown - - - - - Johan den Dunnen, Isabelle Touitou
+/. 1 - c.629G>A r.(?) p.(Gly210Glu) - pathogenic g.48389683C>T g.47995900C>T COL2A1(NM_001844.5):c.629G>A (p.G210E) - COL2A1_000598 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 - c.632C>T r.(?) p.(Pro211Leu) - VUS g.48389680G>A g.47995897G>A COL2A1(NM_001844.4):c.632C>T (p.P211L) - COL2A1_000652 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 2 9 c.638G>A r.(?) p.(Gly213Asp) - pathogenic g.48389674C>T g.47995891C>T COL2A1(NM_001844.4):c.638G>A (p.G213D) - COL2A1_000449 VKGL data sharing initiative Nederland PubMed: Kannu 2011 - - CLASSIFICATION record, Germline - - - - - Isabelle Touitou, VKGL-NL_Rotterdam
+/., +?/. 4 9 c.647G>A r.(?) p.(Gly216Asp), p.Gly216Asp ACMG likely pathogenic, pathogenic g.48389665C>T g.47995882C>T - - COL2A1_000217 1 more item PubMed: Hoornaert 2010 - - Germline, Unknown - - - - - Isabelle Touitou, Andreas Laner
+/. 1 9i c.654+1G>A r.spl p.? - pathogenic g.48389657C>T g.47995874C>T - - COL2A1_000284 - PubMed: Hoornaert 2010 - - Unknown - - - - - Isabelle Touitou
-?/. 1 - c.654+9C>A r.(=) p.(=) - likely benign g.48389649G>T g.47995866G>T - - COL2A1_000560 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 5 - c.654+15T>G r.(=) p.(=) - benign g.48389643A>C g.47995860A>C COL2A1(NM_001844.4):c.654+15T>G, COL2A1(NM_001844.5):c.654+15T>G - COL2A1_000448 VKGL data sharing initiative Nederland - - rs1034762 CLASSIFICATION record, Germline - - - - - Andreas Laner, VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Nijmegen, VKGL-NL_VUmc
+/. 1 9i c.655-1G>C r.spl p.? - pathogenic g.48389547C>G g.47995764C>G - - COL2A1_000447 - PubMed: Ang 2007 - - Unknown - - - - - Isabelle Touitou
+/. 1 10 c.655G>C r.(?) p.(Gly219Arg) - pathogenic g.48389546C>G g.47995763C>G - - COL2A1_000218 - PubMed: Hoornaert 2010 - - Unknown - - - - - Isabelle Touitou
+/. 1 10 c.656G>A r.(?) p.(Gly219Glu) - pathogenic g.48389545C>T g.47995762C>T - - COL2A1_000395 - - - - Unknown - - - - - Isabelle Touitou
+/. 1 10 c.665G>T r.(?) p.(Gly222Val) - pathogenic g.48389536C>A g.47995753C>A - - COL2A1_000219 - PubMed: Hoornaert 2010 - - Unknown - - - - - Isabelle Touitou
+/. 1 10 c.671_672insT r.(?) p.(Gln224Hisfs*6) - pathogenic g.48389529_48389530insA g.47995746_47995747insA - - COL2A1_000483 - - - - Germline yes - - - - Mouna Barat-Houari
./. 1 - c.680C>A r.(?) p.(Pro227His) - likely pathogenic g.48389521G>T g.47995738G>T NM_001844.4(COL2A1):c.680C>A p.(Pro227His) - COL2A1_000468 variant could not be associated with disease phenotype PubMed: Vogelaar 2017, Journal: Vogelaar 2017 - - Germline - - - - - Marjolijn JL Ligtenberg
+/. 1 10 c.692G>A r.(?) p.(Gly231Asp) - pathogenic g.48389509C>T g.47995726C>T - - COL2A1_000265 - - - - Unknown - - - - - Isabelle Touitou
+/. 1 10 c.695_703del r.(?) p.(Glu232_Gly234del) - pathogenic g.48389514_48389522del g.47995731_47995739del - - COL2A1_000486 - - - - Germline yes - - - - Mouna Barat-Houari
-/., -?/. 2 - c.708+8C>T r.(=) p.(=) - benign, likely benign g.48389485G>A g.47995702G>A COL2A1(NM_001844.4):c.708+8C>T (, p.(=)) - COL2A1_000651 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_AMC
+/. 3 10i c.709-2A>G r.spl, r.[709_762del, ..] p.? - pathogenic g.48389093T>C g.47995310T>C - - COL2A1_000270 Skipping of exon 11 and of exons 11 and 13 PubMed: Miyamoto 2005 - - Unknown - - - - - Isabelle Touitou
+/. 1 11 c.719G>A r.(?) p.(Gly240Asp) - pathogenic g.48389081C>T g.47995298C>T - - COL2A1_000248 - PubMed: Richards 2010 - - Unknown - - - - - Isabelle Touitou
+/. 1 11 c.724del r.(?) p.(Arg242Valfs*66) - pathogenic g.48389079del g.47995296del c.724delC - COL2A1_000249 - PubMed: Richards 2010 - - Unknown - - - - - Isabelle Touitou
+/. 1 - c.743del r.(?) p.(Pro248LeufsTer60) - pathogenic g.48389061del g.47995278del - - COL2A1_000650 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 8 11 c.744del r.(?) p.(Gly249Glufs*59), p.(Gly249GlufsTer59) - pathogenic g.48389056del g.47995273del 744delT, c.744delT Pro248ProfsX307 - COL2A1_000100, COL2A1_000329 - PubMed: Baijens 2004, PubMed: Hoornaert 2010, PubMed: Zechi-Ceide 2008 - - Unknown - - - - - Johan den Dunnen, Isabelle Touitou
+/. 1 11 c.756dup r.(?) p.(Asp253*) - pathogenic g.48389044dup g.47995261dup c.756dupT - COL2A1_000250 - PubMed: Richards 2010 - - Unknown - - - - - Isabelle Touitou
+?/. 1 11i c.762+5G>A r.spl? p.? - likely pathogenic g.48389033C>T g.47995250C>T - - COL2A1_000496 - PubMed: Kondo 2016 - - Unknown ? - - - - Mouna Barat-Houari
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