Unique variants in the COL1A2 gene


Osteogenesis Imperfecta Variant Database

Information The variants shown are described using the NM_000089.3 transcript reference sequence.

854 entries on 9 pages. Showing entries 1 - 100.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Predicted     

Legacy protein change     

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 17 [NM_181678.2:c.-48-58227]::c.869del r.? p.? - - - pathogenic g.94038711_qterdelins[NC_000005.9:146294373_qter] - chr5:146294373,chr7:94038710 t(5;7)(q32;q21) COL1A2_000000 translocation PubMed: Liu 2017 - - Germline/De novo (untested) - - - - - Johan den Dunnen
+/+ 1 _1_18i c.-471_(936+1_937-1){0} r.0? p.0? deletion, multi exon - - pathogenic g.(?_94023873)_(94038921_94039034)del g.(?_94394561)_(94409609_94409722)del - - COL1A2_000413 - - - - Unknown - - - - - Isabel Mandy Nesbitt
+/+ 1 1i c.70+717A>G r.(?) p.? other/complex - - pathogenic g.94025130A>G - - - COL1A2_000261 - PubMed: Schwarze et al., 2004 - rs72656354 Unknown - - - - - Peter Byers
-?/. 1 1i c.71-17C>T r.(=) p.(=) - - - likely benign g.94027043C>T g.94397731C>T - - COL1A2_000698 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 1 1i c.71-8_71-7dup r.(=) p.(=) - - - benign g.94027052_94027053dup g.94397740_94397741dup COL1A2(NM_000089.4):c.71-8_71-7dupTT - COL1A2_000702 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. 1 1i c.71-7dup r.(=) p.(=) - - - benign g.94027053dup g.94397741dup COL1A2(NM_000089.4):c.71-7dupT - COL1A2_000816 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 1 2i c.81+10A>G r.(=) p.(=) - - - likely benign g.94027080A>G g.94397768A>G COL1A2(NM_000089.3):c.81+10A>G - COL1A2_000817 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 2i c.81+11del r.(=) p.(=) - - - likely benign g.94027081del g.94397769del COL1A2(NM_000089.4):c.81+11delC - COL1A2_000818 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 2 2i c.81+15T>C r.(=) p.(=) - - - likely benign g.94027085T>C g.94397773T>C COL1A2(NM_000089.3):c.81+15T>C, COL1A2(NM_000089.4):c.81+15T>C - COL1A2_000819 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_VUmc
-/. 1 2i c.82-12A>G r.(=) p.(=) - - - benign g.94027682A>G g.94398370A>G COL1A2(NM_000089.4):c.82-12A>G - COL1A2_000820 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/-, -/. 2 3 c.87T>C r.(?) p.(=), p.(Thr29=) silent - - benign, likely benign g.94027699T>C g.94398387T>C COL1A2(NM_000089.4):c.87T>C (p.T29=) - COL1A2_000308 VKGL data sharing initiative Nederland 1 more item - rs1801182 CLASSIFICATION record, Unknown - - - - - Raymond Dalgleish, VKGL-NL_VUmc
-?/-? 1 4 c.118C>A r.(?) p.(Pro40Thr) missense - - benign g.94028382C>A - - - COL1A2_000391 - - - - Unknown - - - - - Isabel Mandy Nesbitt
-/. 1 - c.132+31G>A r.(=) p.(=) - - - benign g.94028427G>A - COL1A2(NM_000089.4):c.132+31G>A - COL1A2_000924 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 4i c.133-304G>A r.(=) p.(=) - - - likely benign g.94029204G>A - COL1A2(NM_000089.4):c.133-304G>A - COL1A2_000875 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/+ 1 5 c.133G>T r.(?) p.(Gly45Cys) missense - - pathogenic g.94029508G>T - - - COL1A2_000757 - Morlino et al., submitted 2019 - - Unknown - - - - - Marina Colombi, Marco Ritelli
+?/. 1 - c.152_157dup r.(?) p.(Gly51_Arg52dup) - - - likely pathogenic g.94029527_94029532dup g.94400215_94400220dup - - COL1A2_000909 - - - - Germline - - - - - Lucia Micale
-?/. 1 5 c.180C>A r.(?) p.(Gly60=) - - - likely benign g.94029555C>A g.94400243C>A COL1A2(NM_000089.4):c.180C>A (p.G60=) - COL1A2_000821 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+?/. 3 5 c.197G>A r.(?) p.(Gly66Asp) - - - likely pathogenic g.94029572G>A g.94400260G>A - - COL1A2_000822 - PubMed: Morlino 2020 - - Germline, Unknown - - - - - Lucia Micale
+/+? 1 5 c.214G>A r.(?) p.(Gly72Ser) missense - - likely pathogenic g.94029589G>A - - - COL1A2_000513 - - - - Unknown - - - - - Lilia D'Souza-Li
+/+ 1 5i c.226-22_226-11del r.spl p.? splicing affected? - - pathogenic g.94030857_94030868del - - - COL1A2_000434 - PubMed: Giunta and Steinmann, 2008 - - Unknown - - - - - Raymond Dalgleish
+/+ 1 5i_6i c.226-17_279+12del r.spl p.(Asn76_Met93del) deletion, exon - - pathogenic g.94030862_94030944del - - - COL1A2_000207 - PubMed: Byers et al., 1997 - rs74315131 Unknown - - - - - Peter Byers
-/. 1 5i c.226-11del r.(=) p.(=) - - - benign g.94030868del g.94401556del COL1A2(NM_000089.4):c.226-11delT - COL1A2_000823 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. 2 5i c.226-11dup r.(=) p.(=) - - - benign g.94030868dup g.94401556dup COL1A2(NM_000089.3):c.226-11dupT, COL1A2(NM_000089.4):c.226-11dupT - COL1A2_000824 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_VUmc
-?/. 1 5i c.226-10A>T r.(=) p.(=) - - - likely benign g.94030869A>T g.94401557A>T COL1A2(NM_000089.3):c.226-10A>T - COL1A2_000825 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 5i c.226-9C>T r.(=) p.(=) - - - likely benign g.94030870C>T g.94401558C>T COL1A2(NM_000089.3):c.226-9C>T - COL1A2_000826 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 5i c.226-6C>T r.(=) p.(=) - - - likely benign g.94030873C>T g.94401561C>T COL1A2(NM_000089.3):c.226-6C>T - COL1A2_000827 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+, +/. 4 5i c.226-2A>G r.spl, r.spl? p.? splicing affected? - - pathogenic g.94030877A>G - COL1A2(NM_000089.4):c.226-2A>G - COL1A2_000224 VKGL data sharing initiative Nederland PubMed: Byers et al., 1997, PubMed: Klaassens et al., 2011, 1 more item - rs72656355 CLASSIFICATION record, Unknown - - - - - Raymond Dalgleish, VKGL-NL_VUmc, Peter Byers
+/+ 1 5i c.226-1G>A r.spl p.? splicing affected? - - pathogenic g.94030878G>A - - - COL1A2_000225 - PubMed: Byers et al., 1997 - rs66820119 Unknown - - - - - Peter Byers
+/+ 1 5i c.226-1G>C r.spl p.? splicing affected? - - pathogenic g.94030878G>C - - - COL1A2_000226 - PubMed: Chiodo et al., 1992 - rs66820119 Unknown - - - - - Raymond Dalgleish
-/-, -/. 2 6 c.246T>C r.(?) p.(=), p.(Asp82=) silent - - benign, likely benign g.94030899T>C g.94401587T>C COL1A2(NM_000089.4):c.246T>C (p.D82=) - COL1A2_000309 VKGL data sharing initiative Nederland 1 more item - rs1800222 CLASSIFICATION record, Unknown - - - - - Raymond Dalgleish, VKGL-NL_VUmc
+/+ 2 6 c.279G>A r.(?) p.(Met93Ile) splicing affected? Met3Ile - pathogenic g.94030932G>A - - - COL1A2_000227 - PubMed: Byers et al., 1997, PubMed: Weil et al., 1989b - rs72656356 Unknown - - - - - Raymond Dalgleish, Peter Byers
+/+ 6 6i c.279+1G>A r.spl p.? splicing affected? - - pathogenic g.94030933G>A - - - COL1A2_000228 - PubMed: Giunta et al., 1999, PubMed: Lehmann et al., 1994, PubMed: Nicholls et al., 1991, 3 more items - rs67398234 Unknown - - - - - Raymond Dalgleish, Peter Byers
+/+ 1 6i c.279+1G>C r.spl p.? splicing affected? - - pathogenic g.94030933G>C - - - COL1A2_000462 - PubMed: Klaassens et al., 2011 - - Unknown - - - - - Raymond Dalgleish
+/+ 5 6i c.279+1G>T r.spl p.? splicing affected? - - pathogenic g.94030933G>T - - - COL1A2_000229 - PubMed: Byers et al., 1997, PubMed: Hatamochi et al., 2014, PubMed: Klaassens et al., 2011, 1 more item - rs67398235 Unknown - - - - - Raymond Dalgleish, Peter Byers
+?/. 1 6i c.279+1_279+5del r.spl p.? - - - likely pathogenic g.94030933_94030937del g.94401621_94401625del - - COL1A2_000910 - - - - De novo - - - - - Lucia Micale
+/+ 4 6i c.279+2T>C r.spl p.? splicing affected? - - pathogenic g.94030934T>C - - - COL1A2_000230 - PubMed: Giunta et al., 1999, PubMed: Ho et al., 1994, PubMed: Melis et al., 2012, 1 more item - rs72656357 Unknown - - - - - Raymond Dalgleish
+/+, +/. 2 6i c.279+2T>G r.spl p.? splicing affected? - - pathogenic g.94030934T>G g.94401622T>G - - COL1A2_000460 - PubMed: Klaassens et al., 2011 - - De novo, Unknown - - - - - Raymond Dalgleish, Lucia Micale
+/+ 1 6i_11i c.280-1149_540+63del r.? p.(Gly94_Arg180del) deletion, multi exon - - pathogenic g.94032719_94035101del - - - COL1A2_000208 - PubMed: Mundlos et al., 1996 - rs74315105 Unknown - - - - - Raymond Dalgleish
?/- 1 7 c.287T>A r.(?) p.(Met96Lys) missense - - VUS g.94033875T>A - - - COL1A2_000583 - - - - Unknown - - - - - Simon Bodek
+/+ 1 7 c.293dup r.(?) p.(Arg99*) frameshift - - pathogenic g.94033881dup - - - COL1A2_000209 - PubMed: Malfait et al., 2006 - - Unknown - - - - - Raymond Dalgleish
+/. 1 7 c.299G>A r.(?) p.(Gly100Asp) missense - ACMG pathogenic (dominant) g.94033887G>A g.94404575G>A - - COL1A2_000936 patient has affected mother carrying the same variant - - - Germline yes - - - - Marco Ritelli
-/-?, -?/., ?/-? 4 7 c.304C>T r.(?) p.(Pro102Ser) missense Pro12Ser - likely benign, VUS g.94033892C>T g.94404580C>T COL1A2(NM_000089.3):c.304C>T (p.P102S), COL1A2(NM_000089.4):c.304C>T (p.P102S) - COL1A2_000559 VKGL data sharing initiative Nederland PubMed: Lindahl et al., 2015 - - CLASSIFICATION record, Unknown - - - - - VKGL-NL_Rotterdam, VKGL-NL_VUmc, Katarina Lindahl
+/+ 1 7 c.316G>A r.(?) p.(Gly106Arg) missense - - pathogenic g.94033904G>A - - - COL1A2_000680 - Morlino et al., submitted 2019 - - Unknown - - - - - Marina Colombi, Marco Ritelli
+/+ 1 7i c.324+4del r.spl? p.? splicing affected? - - pathogenic g.94033916del - - - COL1A2_000479 - PubMed: Malfait et al., 2013 - - Unknown - - - - - Sofie Symoens
+/+ 2 8 c.326G>A r.(?) p.(Gly109Asp) missense Gly19Asp - pathogenic g.94034006G>A - - - COL1A2_000463 - PubMed: Lindahl et al., 2015, PubMed: Malfait et al., 2013 - - Unknown - - - - - Sofie Symoens, Katarina Lindahl
+?/+ 1 8 c.326G>T r.(?) p.(Gly109Val) missense - - VUS g.94034006G>T - - - COL1A2_000682 - - - - Unknown - - - - - Ken Poole
?/. 1 8 c.329C>T r.(?) p.(Pro110Leu) - - - VUS g.94034009C>T g.94404697C>T - - COL1A2_000911 - - - - Germline/De novo (untested) - - - - - Lucia Micale
+/+ 1 8 c.335G>A r.(?) p.(Gly112Asp) missense Gly22Asp - pathogenic g.94034015G>A - - - COL1A2_000590 - PubMed: Lin et al., 2015 - - Unknown - - - - - Raymond Dalgleish
+/+, +?/. 5 8 c.335G>T r.(?) p.(Gly112Val) missense Gly22Val - likely pathogenic, pathogenic g.94034015G>T g.94404703G>T - - COL1A2_000432 - - - - Unknown - - - - - Lucia Micale, Margherita Maioli
+/+ 1 8 c.343G>A r.(?) p.(Gly115Arg) missense Gly25Arg - pathogenic g.94034023G>A - - - COL1A2_000396 - - - - Unknown - - - - - Isabel Mandy Nesbitt
+/+, +?/. 2 8 c.353G>A r.(?) p.(Gly118Asp) missense Gly28Asp - likely pathogenic, pathogenic g.94034033G>A g.94404721G>A - - COL1A2_000001 - Leone 2023, submitted, PubMed: Marini et al., 2007 (Körkkö and Prockop, personal communication) - rs72656358 Germline, Unknown - - - - - Raymond Dalgleish, Maria Pia Leone
+/+ 1 8 c.353G>T r.(?) p.(Gly118Val) missense - - pathogenic g.94034033G>T - - - COL1A2_000594 - PubMed: Mansfield and Rahme, 2015 - - Unknown - - - - - Raymond Dalgleish
+/+ 1 8 c.362G>A r.(?) p.(Gly121Asp) missense Gly31Asp - pathogenic g.94034042G>A - - - COL1A2_000324 - - - - Unknown - - - - - Peter Roughley
+/+ 3 8 c.371G>A r.(?) p.(Gly124Asp) missense Gly34Asp - pathogenic g.94034051G>A - - - COL1A2_000002 - PubMed: Balasubramanian et al., 2015, PubMed: Marini et al., 2007 (Byers, personal communication) - rs72656359 Unknown - - - - - Raymond Dalgleish, Peter Byers, Ken Poole
+/+ 2 9 c.380G>A r.(?) p.(Gly127Asp) missense Gly37Asp - pathogenic g.94034152G>A - - - COL1A2_000343 - Li, 2009 ASHG Meeting 2009 Program Number: 2630 - - Unknown - - - - - Raymond Dalgleish, Peter Roughley
+/+ 1 9 c.389G>A r.(?) p.(Gly130Asp) missense Gly40Asp - pathogenic g.94034161G>A - - - COL1A2_000003 - PubMed: Marini et al., 2007 (Hyland and Prockop, personal communication) - rs72656360 Unknown - - - - - Raymond Dalgleish
-?/. 1 9 c.390T>A r.(?) p.(Gly130=) - - - likely benign g.94034162T>A - COL1A2(NM_000089.3):c.390T>A (p.G130=) - COL1A2_000884 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.395G>A r.(?) p.(Arg132His) missense - - pathogenic (dominant) g.94034167G>A - - - COL1A2_000907 - PubMed: Ohata 2019 - - Germline/De novo (untested) - - - - - Lisanne Wisse
+/+ 1 9 c.397G>A r.(?) p.(Gly133Ser) missense Gly43Ser - pathogenic g.94034169G>A - - - COL1A2_000004 - PubMed: Marini et al., 2007 (Byers, personal communication) - rs72656361 Unknown - - - - - Peter Byers
+?/. 1 9 c.406G>A r.(?) p.(Gly136Ser) - - - likely pathogenic g.94034178G>A g.94404866G>A - - COL1A2_000912 - - - - Germline - - - - - Lucia Micale
+?/+ 1 9 c.407G>A r.(?) p.(Gly136Asp) missense Gly46Asp - pathogenic g.94034179G>A - - - COL1A2_000587 - - - - Unknown - - - - - Eva Gonzalez-Roca
+/+ 1 9 c.416G>T r.(?) p.(Gly139Val) missense Gly49Val - pathogenic g.94034188G>T - - - COL1A2_000408 - - - - Unknown - - - - - Isabel Mandy Nesbitt
+?/. 1 9 c.425G>A r.(?) p.(Gly142Asp) - - - likely pathogenic g.94034197G>A g.94404885G>A - - COL1A2_000913 - - - - Germline - - - - - Lucia Micale
+/+ 3 9i c.432+1G>A r.spl p.? splicing affected, splicing affected? - - pathogenic g.94034205G>A g.94404893G>A - - COL1A2_000382 - PubMed: Demir 2021 - - Germline/De novo (untested), Unknown - - - - - Johan den Dunnen, Margherita Maioli
+/+ 1 9i c.432+3_432+13del r.spl? p.? splicing affected? - - pathogenic g.94034207_94034217del - - - COL1A2_000231 - PubMed: Nicholls et al., 1992 - rs72656362 Unknown - - - - - Raymond Dalgleish
+/+, +/. 3 9i c.432+4_432+7del r.spl? p.? splicing affected? - - likely pathogenic, pathogenic g.94034208_94034211del g.94404896_94404899del 432+4_432+7delAGTA - COL1A2_000232 - PubMed: Malfait et al., 2013, PubMed: Marini et al., 2007 (Byers, personal communication) - rs72656363 Unknown - - - - - Sofie Symoens, Lucia Micale, Peter Byers
+/+, +/. 3 9i c.432+5G>A r.spl? p.? splicing affected? - - likely pathogenic, pathogenic g.94034209G>A g.94404897G>A - - COL1A2_000233 - PubMed: Feshchenko et al., 1998, PubMed: Marini et al., 2007 (Byers, personal communication) - rs72656364 Unknown - - - - - Raymond Dalgleish, Lucia Micale, Peter Byers
-?/. 1 9i c.432+20C>T r.(=) p.(=) - - - likely benign g.94034224C>T g.94404912C>T COL1A2(NM_000089.4):c.432+20C>T - COL1A2_000828 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/+ 1 9i_17i c.432+59_891+7del r.spl p.(Gly145_Pro297del) deletion, multi exon - - pathogenic g.94034263_94038739del - - - COL1A2_000210 - PubMed: Mundlos et al., 1996 - rs74315153 Unknown - - - - - Raymond Dalgleish
+/+ 1 9i c.433-2A>G r.spl p.? splicing affected? - - pathogenic g.94034509A>G - - - COL1A2_000480 - - - - Unknown - - - - - Sofie Symoens
+/+ 2 9i c.433-1G>C r.spl p.? splicing affected? - - pathogenic g.94034510G>C - - - COL1A2_000234 - PubMed: Balasubramanian et al., 2015, 1 more item - rs72656365 Unknown - - - - - Raymond Dalgleish
+/. 1 - c.434G>T r.(?) p.(Gly145Val) - - - pathogenic g.94034512G>T - COL1A2(NM_000089.4):c.434G>T (p.G145V) - COL1A2_000925 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+?/. 1 10 c.469G>A r.(?) p.(Gly157Arg) - - - likely pathogenic g.94034547G>A g.94405235G>A - - COL1A2_000914 - - - - De novo - - - - - Lucia Micale
+/., +/? 2 10 c.478G>A r.(?) p.(Gly160Arg) missense Gly70Arg - pathogenic (dominant), VUS g.94034556G>A g.94405244G>A - - COL1A2_000650 - PubMed: Li 2019, Journal: Li 2019, PubMed: Liu 2017 - - Germline, Unknown - 1/101 cases OI - - - Johan den Dunnen, Xiuli Zhao
+/+ 1 10 c.479G>A r.(?) p.(Gly160Glu) - - - pathogenic g.94034557G>A g.94405245G>A - - COL1A2_000829 - - - - Germline/De novo (untested) - - - - - Gemeinschaftspraxis für Humangenetik Dresden
+/+ 1 10i c.486+1G>C r.spl p.? splicing affected? - - pathogenic g.94034565G>C - - - COL1A2_000481 - - - - Unknown - - - - - Sofie Symoens
+?/+ 1 10i c.486+2T>G r.spl p.? splicing affected? - - pathogenic g.94034566T>G - - - COL1A2_000602 - PubMed: Bardai et al.,2016 - - Unknown - - - - - Ghalib Bardai, Patrizia Mason
+/+ 1 10i_11 c.487-5_500del r.spl p.? splicing affected? - - pathogenic g.94034980_94034998del - - - COL1A2_000239 - PubMed: Kuivaniemi et al., 1988 - rs74315146 Unknown - - - - - Raymond Dalgleish
+/+ 3 11 c.497G>T r.(?) p.(Gly166Val) missense Gly76Val - pathogenic g.94034995G>T - - - COL1A2_000005 - PubMed: Marini et al., 2007 (Byers, personal communication), 1 more item - rs72656366 Unknown - - - - - Raymond Dalgleish, Javier Garcia-Planells, Peter Byers
?/. 1 11 c.502C>T r.(?) p.(Pro168Ser) - - - VUS g.94035000C>T - - - COL1A2_000876 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/+ 1 11 c.506G>A r.(?) p.(Gly169Glu) missense Gly79Glu - pathogenic g.94035004G>A - - - COL1A2_000341 - - - - Unknown - - - - - Margherita Maioli
?/. 1 11 c.539G>A r.(?) p.(Arg180Lys) - - - VUS g.94035037G>A g.94405725G>A - - COL1A2_000915 - - - - Germline/De novo (untested) - - - - - Lucia Micale
+/+ 1 11i c.540+5G>A r.spl? p.? splicing affected? - - pathogenic g.94035043G>A - - - COL1A2_000259 - PubMed: Schwarze et al., 2004 - rs72656367 Unknown - - - - - Peter Byers
+/+ 1 11i_32i c.540+37_1972-220dup r.? p.(Gly181_Lys657dup) insertion - - pathogenic g.94035075_94047591dup - [1972-222G>C;1972-220T>A;540+37_1972-220dup] - COL1A2_000211 - PubMed: Raff et al., 2000 - - Germline - - - - - Peter Byers
+/? 1 11i c.541-2del r.spl p.? splicing affected? - - VUS g.94035560del - - - COL1A2_000660 - PubMed: Li 2019, Journal: Li 2019 - - Unknown - - - - - Xiuli Zhao
+/+ 1 12 c.544C>G r.(?) p.(His182Asp) missense His92Asp - pathogenic g.94035565C>G - - - COL1A2_000137 - PubMed: Galicka et al., 2003 - rs72656368 Unknown - - - - - Raymond Dalgleish
+?/. 1 12 c.556G>T r.(?) p.(Asp186Tyr) - - - likely pathogenic g.94035577G>T g.94406265G>T NM_000089.3(COL1A2):c.556G>T p.(Asp186Tyr) - COL1A2_000830 variant could not be associated with disease phenotype PubMed: Vogelaar 2017, Journal: Vogelaar 2017 - - Germline - - - - - Marjolijn JL Ligtenberg
+/+, +/? 3 12 c.560G>A r.(?) p.(Gly187Glu) missense Gly97Glu - pathogenic, VUS g.94035581G>A - - - COL1A2_000493 - PubMed: Li 2019, Journal: Li 2019 - - Unknown - - - - - Yanqin Lu, Margherita Maioli, Xiuli Zhao
+/? 1 12 c.560G>T r.(?) p.(Gly187Val) missense Gly97Val - VUS g.94035581G>T - - - COL1A2_000658 - PubMed: Li 2019, Journal: Li 2019 - - Unknown - - - - - Xiuli Zhao
+/. 1 12 c.568G>A r.(?) p.(Gly190Arg) - - - pathogenic g.94035589G>A g.94406277G>A COL1A2(NM_000089.4):c.568G>A (p.G190R) - COL1A2_000831 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/., +/? 2 12 c.568G>C r.(?) p.(Gly190Arg) missense Gly100Arg - pathogenic (dominant), VUS g.94035589G>C g.94406277G>C - - COL1A2_000646 - PubMed: Li 2019, Journal: Li 2019, PubMed: Liu 2017 - - Germline, Unknown - 1/101 cases OI - - - Johan den Dunnen, Xiuli Zhao
+/+, +/? 2 12 c.569G>A r.(?) p.(Gly190Glu) missense Gly100Glu - pathogenic, VUS g.94035590G>A - - - COL1A2_000421 - PubMed: Li 2019, Journal: Li 2019 - - Unknown - - - - - Javier Garcia-Planells, Xiuli Zhao
+/+ 1 12 c.569G>C r.(?) p.(Gly190Ala) missense Gly100Ala - pathogenic g.94035590G>C - - - COL1A2_000617 - - - - Unknown - - - - - Margherita Maioli
+/+ 2 12 c.569G>T r.(?) p.(Gly190Val) missense Gly100Val - pathogenic g.94035590G>T - - - COL1A2_000006 - PubMed: Marini et al., 2007 (De Paepe, personal communication) - rs72656369 Unknown - - - - - Raymond Dalgleish, Sofie Symoens
+/+, +/., +?/. 20 12 c.577G>A r.(?) p.(Gly193Ser) missense Gly103Ser - likely pathogenic, pathogenic g.94035598G>A g.94406286G>A - - COL1A2_000007 - PubMed: Gentile et al., 2013, PubMed: Lindahl et al., 2015, PubMed: Morlino 2020, 3 more items - rs72656370 Germline, Unknown - - - - - Raymond Dalgleish, Lucia Micale, Isabel Mandy Nesbitt, Maria Luisa Bianchi, Margherita Maioli, Katarina Lindahl
+/+, +?/. 2 12 c.577G>C r.(?) p.(Gly193Arg) missense Gly103Arg ACMG likely pathogenic (dominant), pathogenic g.94035598G>C g.94406286G>C - - COL1A2_000322 - Mazzeu 2022, unpublished - - Germline, Unknown - - - - - Juliana Mazzeu, Margherita Maioli
+/+, +/., +/?, +?/+ 5 12 c.578G>A r.(?) p.(Gly193Asp) missense Gly103Asp - likely pathogenic, pathogenic, VUS g.94035599G>A g.94406287G>A COL1A2(NM_000089.4):c.578G>A (p.G193D) - COL1A2_000008 VKGL data sharing initiative Nederland PubMed: Demir 2021, PubMed: Li 2019, Journal: Li 2019, 1 more item - rs72656371 CLASSIFICATION record, Germline/De novo (untested), Unknown - - - - - Johan den Dunnen, Raymond Dalgleish, VKGL-NL_VUmc, Lucia Micale, Xiuli Zhao
+/+ 2 12 c.578G>T r.(?) p.(Gly193Val) missense Gly103Val - pathogenic g.94035599G>T - - - COL1A2_000550 - PubMed: Li 2019, Journal: Li 2019 - - Unknown - - - - - Xue Bai, Xiuli Zhao
?/- 1 12 c.582T>G r.(?) p.(=) silent - - VUS g.94035603T>G - - - COL1A2_000557 - - - - Unknown - - - - - Xue Bai
+/+ 1 12 c.586G>T r.(?) p.(Gly196Cys) missense Gly109Cys - pathogenic g.94035607G>T - - - COL1A2_000457 - PubMed: Zhang et al., 2011 - - Unknown - - - - - Raymond Dalgleish
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