Full data view for gene COL1A2


Osteogenesis Imperfecta Variant Database

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

1663 entries on 17 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Predicted     

Legacy protein change     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. 17 [NM_181678.2:c.-48-58227]::c.869del r.? p.? - - Unknown - 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) - - - - - DNA SEQ-NG - targeted 14-gene panel OI OI Fam27 PubMed: Liu 2017 analysis 101 unrelated OI families - - China - - - - - 1 Johan den Dunnen
+/+ _1_18i c.-471_(936+1_937-1){0} r.0? p.0? deletion, multi exon - Unknown - pathogenic g.(?_94023873)_(94038921_94039034)del g.(?_94394561)_(94409609_94409722)del - - COL1A2_000413 - - - - Unknown - - - - - DNA MLPA - - OI, OI4 - - - - - - - - - - - 1 Isabel Mandy Nesbitt
+/+ 1i c.70+717A>G r.(?) p.? other/complex - Unknown - pathogenic g.94025130A>G - - - COL1A2_000261 - PubMed: Schwarze et al., 2004 - rs72656354 Unknown - - - - - DNA, RNA PCR, RT-PCR, SEQ - - EDS - PubMed: Schwarze et al., 2004 Both mutations result in null alleles. - - - - - - - - 1 Peter Byers
-?/. 1i c.71-17C>T r.(=) p.(=) - - Unknown - likely benign g.94027043C>T g.94397731C>T - - COL1A2_000698 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 1i c.71-8_71-7dup r.(=) p.(=) - - Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-/. 1i c.71-7dup r.(=) p.(=) - - Unknown - benign g.94027053dup g.94397741dup COL1A2(NM_000089.4):c.71-7dupT - COL1A2_000816 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 2i c.81+10A>G r.(=) p.(=) - - Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. 2i c.81+11del r.(=) p.(=) - - Unknown - likely benign g.94027081del g.94397769del COL1A2(NM_000089.4):c.81+11delC - COL1A2_000818 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 2i c.81+15T>C r.(=) p.(=) - - Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. 2i c.81+15T>C r.(=) p.(=) - - Unknown - likely benign g.94027085T>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 - - - - - - - - - - - - - - - - - - - - - - -
-/. 2i c.82-12A>G r.(=) p.(=) - - Unknown - benign g.94027682A>G g.94398370A>G COL1A2(NM_000089.4):c.82-12A>G - COL1A2_000820 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 3 c.87T>C r.(?) p.(Thr29=) - - Unknown - benign g.94027699T>C g.94398387T>C COL1A2(NM_000089.4):c.87T>C (p.T29=) - COL1A2_000308 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/- 3 c.87T>C r.(?) p.(=) silent - Unknown - likely benign g.94027699T>C - - - COL1A2_000308 - PubMed: Zhuang et al., 1996 PubMed: Yoneyama et al., 2004 PubMed: Chan et al., 2008 PubMed: Bodian et al., 2009 - rs1801182 Unknown - - - - - DNA PCR, SEQ - - ? - PubMed: Zhuang et al., 1996 PubMed: Yoneyama et al., 2004 PubMed: Chan et al., 2008 PubMed: Bodian et al., 2009 - - - - - - - - - 1 Raymond Dalgleish
-?/-? 4 c.118C>A r.(?) p.(Pro40Thr) missense - Unknown - benign g.94028382C>A - - - COL1A2_000391 - - - - Unknown - - - - - DNA SEQ - - OI - - Complete sequencing of COL1A1 and COL1A2, no other changes detected - - - - - - - - 1 Isabel Mandy Nesbitt
-/. - c.132+31G>A r.(=) p.(=) - - Unknown - benign g.94028427G>A - COL1A2(NM_000089.4):c.132+31G>A - COL1A2_000924 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 4i c.133-304G>A r.(=) p.(=) - - Unknown - likely benign g.94029204G>A - COL1A2(NM_000089.4):c.133-304G>A - COL1A2_000875 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 5 c.133G>T r.(?) p.(Gly45Cys) missense - Paternal (inferred) - pathogenic g.94029508G>T - - - COL1A2_000757 - Morlino et al., submitted 2019 - - Unknown - - - - - DNA PCR, SEQ - - EDS - Morlino et al., submitted 2019 Father of affected individual AN_005716. - - - - - - - - 1 Marina Colombi, Marco Ritelli
+?/. - c.152_157dup r.(?) p.(Gly51_Arg52dup) - - Maternal (inferred) - likely pathogenic g.94029527_94029532dup g.94400215_94400220dup - - COL1A2_000909 - - - - Germline - - - - - DNA SEQ, SEQ-NG blood - ? - - - - - Italy - - - - - 1 Lucia Micale
-?/. 5 c.180C>A r.(?) p.(Gly60=) - - Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+?/. 5 c.197G>A r.(?) p.(Gly66Asp) - - Unknown - likely pathogenic g.94029572G>A g.94400260G>A - - COL1A2_000822 - - - - Unknown - - - - - DNA SEQ - - EDS Family6-P10 - family, 2 affected M - - - - - - - 2 Lucia Micale
+?/. 5 c.197G>A r.(?) p.(Gly66Asp) - - Unknown - likely pathogenic g.94029572G>A g.94400260G>A - - COL1A2_000822 - - - - Unknown - - - - - DNA SEQ blood - EDS Family6-P11 - - M - - - 30y - - - 1 Lucia Micale
+?/. 5 c.197G>A r.(?) p.(Gly66Asp) - - Paternal (inferred) - likely pathogenic g.94029572G>A g.94400260G>A - - COL1A2_000822 - PubMed: Morlino 2020 - - Germline - - - - - DNA SEQ, SEQ-NG blood - ? - PubMed: Morlino 2020 - - - Italy - - - - - 1 Lucia Micale
+/+? 5 c.214G>A r.(?) p.(Gly72Ser) missense - Maternal (confirmed) - likely pathogenic g.94029589G>A - - - COL1A2_000513 - - - - Unknown - - - - - RNA RT-PCR, SEQ - - OI, OI1 - - - - - - Brazilian - - - - 1 Lilia D'Souza-Li
+/+ 5i c.226-22_226-11del r.spl p.? splicing affected? - Unknown - pathogenic g.94030857_94030868del - - - COL1A2_000434 - PubMed: Giunta and Steinmann, 2008 - - Unknown - - - - - ? ? - - EDS, EDSARTH2 - PubMed: Giunta and Steinmann, 2008 The deletion causes skipping of exon 6. The patient's daughter also harbours the same mutation. - - - - - - - - 1 Raymond Dalgleish
+/+ 5i_6i c.226-17_279+12del r.spl p.(Asn76_Met93del) deletion, exon - Unknown - pathogenic g.94030862_94030944del - - - COL1A2_000207 - PubMed: Byers et al., 1997 - rs74315131 Unknown - - - - - DNA, RNA PCR, RT-PCR, SEQ - - EDS, EDSARTH2 - PubMed: Byers et al., 1997 The mutation in this patient in terms of genomic coordinates is g.11990_12072del - - - - - - - - 1 Peter Byers
-/. 5i c.226-11del r.(=) p.(=) - - Unknown - benign g.94030868del g.94401556del COL1A2(NM_000089.4):c.226-11delT - COL1A2_000823 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 5i c.226-11dup r.(=) p.(=) - - Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.226-11dup r.(=) p.(=) - - Unknown - benign g.94030868dup - COL1A2(NM_000089.3):c.226-11dupT, COL1A2(NM_000089.4):c.226-11dupT - COL1A2_000824 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 5i c.226-10A>T r.(=) p.(=) - - Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. 5i c.226-9C>T r.(=) p.(=) - - Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. 5i c.226-6C>T r.(=) p.(=) - - Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/+ 5i c.226-2A>G r.spl p.? splicing affected? - Unknown - pathogenic g.94030877A>G - - - COL1A2_000224 - PubMed: Byers et al., 1997 - rs72656355 Unknown - - - - - DNA, RNA PCR, RT-PCR, SEQ - - EDS, EDSARTH2 - PubMed: Byers et al., 1997 - - - - - - - - - 1 Peter Byers
+/+ 5i c.226-2A>G r.spl p.? splicing affected? - Unknown - pathogenic g.94030877A>G - - - COL1A2_000224 - PubMed: Marini et al., 2007 (Marini, Cabral and Pals, personal communication) - rs72656355 Unknown - - - - - ? ? - - EDS, EDSARTH2 - PubMed: Marini et al., 2007 (Marini, Cabral and Pals, personal communication) - - - - - - - - - 1 Raymond Dalgleish
+/+ 5i c.226-2A>G r.spl p.? splicing affected? - Unknown - pathogenic g.94030877A>G - - - COL1A2_000224 - PubMed: Klaassens et al., 2011 - rs72656355 Unknown - - - - - DNA PCR, SEQ - - EDS, EDSARTH2 - PubMed: Klaassens et al., 2011 The mutation results in use of a cryptic splice site 15 bases into exon 6, resulting in the loss of the first 5 amino acids. - - - white - - - - 1 Raymond Dalgleish
+/. - c.226-2A>G r.spl? p.? - - Unknown - pathogenic g.94030877A>G - COL1A2(NM_000089.4):c.226-2A>G - COL1A2_000224 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 5i c.226-1G>A r.spl p.? splicing affected? - Unknown - pathogenic g.94030878G>A - - - COL1A2_000225 - PubMed: Byers et al., 1997 - rs66820119 Unknown - - - - - DNA, RNA PCR, RT-PCR, SEQ - - EDS, EDSARTH2 - PubMed: Byers et al., 1997 - - - - - - - - - 1 Peter Byers
+/+ 5i c.226-1G>C r.spl p.? splicing affected? - Unknown - pathogenic g.94030878G>C - - - COL1A2_000226 - PubMed: Chiodo et al., 1992 - rs66820119 Unknown - - - - - DNA, RNA PCR, RT-PCR, SEQ - - EDS, EDSARTH2 - PubMed: Chiodo et al., 1992 The mutation acivates a cryptic splice acceptor in exon 6 resulting in the loss of the first 5 amino acids encoded by that exon. - - - - - - - - 1 Raymond Dalgleish
-/. 6 c.246T>C r.(?) p.(Asp82=) - - Unknown - benign g.94030899T>C g.94401587T>C COL1A2(NM_000089.4):c.246T>C (p.D82=) - COL1A2_000309 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/- 6 c.246T>C r.(?) p.(=) silent - Unknown - likely benign g.94030899T>C - - - COL1A2_000309 - PubMed: Strobel et al., 1992 PubMed: Yoneyama et al., 2004 PubMed: Chan et al., 2008 PubMed: Bodian et al., 2009 - rs1800222 Unknown - - - - - DNA PCR, SEQ - - ? - PubMed: Strobel et al., 1992 PubMed: Yoneyama et al., 2004 PubMed: Chan et al., 2008 PubMed: Bodian et al., 2009 - - - - - - - - - 1 Raymond Dalgleish
+/+ 6 c.279G>A r.(?) p.(Met93Ile) splicing affected? Met3Ile Unknown - pathogenic g.94030932G>A - - - COL1A2_000227 - PubMed: Byers et al., 1997 - rs72656356 Unknown - - - - - DNA, RNA PCR, RT-PCR, SEQ - - EDS, EDSARTH2 - PubMed: Byers et al., 1997 Skips exon 6. - - - - - - - - 1 Peter Byers
+/+ 6 c.279G>A r.(?) p.(Met93Ile) splicing affected? Met3Ile Unknown - pathogenic g.94030932G>A - - - COL1A2_000227 - PubMed: Weil et al., 1989b - rs72656356 Unknown - - - - - DNA, RNA PCR, RT-PCR, SEQ - - EDS, EDSARTH2 - PubMed: Weil et al., 1989b Skips exon 6. The mutation was demonstrated to be temperature-sensitive in this patient. - - - - - - - - 1 Raymond Dalgleish
+/+ 6i c.279+1G>A r.spl p.? splicing affected? - Unknown - pathogenic g.94030933G>A - - - COL1A2_000228 - PubMed: Weil et al., 1990 - rs67398234 Unknown - - - - - DNA, RNA PCR, RT-PCR, SEQ - - EDS, EDSARTH2 - PubMed: Weil et al., 1990 Skips exon 6. - - - - - - - - 1 Raymond Dalgleish
+/+ 6i c.279+1G>A r.spl p.? splicing affected? - Unknown - pathogenic g.94030933G>A - - - COL1A2_000228 - PubMed: Vasan et al., 1991 - rs67398234 Unknown - - - - - DNA, RNA PCR, RT-PCR, NUC, SEQ - - EDS, EDSARTH2 - PubMed: Vasan et al., 1991 Skips exon 6.The technique used was S1 nuclease. - - - - - - - - 1 Raymond Dalgleish
+/+ 6i c.279+1G>A r.spl p.? splicing affected? - Unknown - pathogenic g.94030933G>A - - - COL1A2_000228 - PubMed: Nicholls et al., 1991 - rs67398234 Unknown - - - - - DNA, RNA PCR, SEQ - - EDS, EDSARTH2 - PubMed: Nicholls et al., 1991 Skips exon 6. - - - - - - - - 1 Raymond Dalgleish
+/+ 6i c.279+1G>A r.spl p.? splicing affected? - Maternal (inferred) - pathogenic g.94030933G>A - - - COL1A2_000228 - PubMed: Watson et al., 1992 - rs67398234 Unknown - - - - - DNA, RNA PCR, RT-PCR, SEQ - - EDS, EDSARTH2 - PubMed: Watson et al., 1992 Skips exon 6. The clinical details of the proband and members of her family were previously described by {PMID3621666:Viljoen et al., 1987}. - - - - - - - - 1 Peter Byers
+/+ 6i c.279+1G>A r.spl p.? splicing affected? - Unknown - pathogenic g.94030933G>A - - - COL1A2_000228 - PubMed: Lehmann et al., 1994 - rs67398234 Unknown - - - - - DNA, RNA PCR, RT-PCR, SEQ - - EDS, EDSARTH2 - PubMed: Lehmann et al., 1994 Skips exon 6. - - - - - - - - 1 Raymond Dalgleish
+/+ 6i c.279+1G>A r.spl p.? splicing affected? - Unknown - pathogenic g.94030933G>A - - - COL1A2_000228 - PubMed: Giunta et al., 1999 - rs67398234 Unknown - - - - - DNA, RNA PCR, RT-PCR, SEQ - - EDS, EDSARTH2 - PubMed: Giunta et al., 1999 Skips exon 6. - - - - - - - - 1 Raymond Dalgleish
+/+ 6i c.279+1G>C r.spl p.? splicing affected? - Unknown - pathogenic g.94030933G>C - - - COL1A2_000462 - PubMed: Klaassens et al., 2011 - - Unknown - - - - - DNA, RNA PCR, RT-PCR, SEQ - - EDS, EDSARTH2 - PubMed: Klaassens et al., 2011 - - - - white - - - - 1 Raymond Dalgleish
+/+ 6i c.279+1G>T r.spl p.? splicing affected? - Unknown - pathogenic g.94030933G>T - - - COL1A2_000229 - PubMed: Byers et al., 1997 - rs67398235 Unknown - - - - - DNA, RNA PCR, RT-PCR, SEQ - - EDS, EDSARTH2 - PubMed: Byers et al., 1997 Skips exon 6. - - - - - - - - 1 Peter Byers
+/+ 6i c.279+1G>T r.spl p.? splicing affected? - Unknown - pathogenic g.94030933G>T - - - COL1A2_000229 - PubMed: Byers et al., 1997 - rs67398235 Unknown - - - - - DNA, RNA PCR, RT-PCR, SEQ - - EDS, EDSARTH2 - PubMed: Byers et al., 1997 Skips exon 6. - - - - - - - - 1 Peter Byers
+/+ 6i c.279+1G>T r.spl p.? splicing affected? - Maternal (confirmed) - pathogenic g.94030933G>T - - - COL1A2_000229 - PubMed: Nicholls et al., 2000 - rs67398235 Unknown - - - - - DNA, RNA PCR, RT-PCR, SEQ - - EDS, EDSARTH2 - PubMed: Nicholls et al., 2000 Skips exon 6. The proband's mother is somatically mosaic for the same mutation. - - - - - - - - 1 Raymond Dalgleish
+/+ 6i c.279+1G>T r.spl p.? splicing affected? - Unknown - pathogenic g.94030933G>T - - - COL1A2_000229 - PubMed: Klaassens et al., 2011 - rs67398235 Unknown - - - - - DNA PCR, SEQ - - EDS, EDSARTH2 - PubMed: Klaassens et al., 2011 The patient's father has mild symptoms of EDS but somatic mosaicism was not demonstrated by mutation analysis of blood, fibroblast and saliva DNA. - - - white - - - - 1 Raymond Dalgleish
+/+ 6i c.279+1G>T r.spl p.? splicing affected? - Unknown - pathogenic g.94030933G>T - - - COL1A2_000229 - PubMed: Hatamochi et al., 2014 - rs67398235 Unknown - - - - - DNA, RNA PCR, RT-PCR, SEQ - - EDS, EDSARTH2 - PubMed: Hatamochi et al., 2014 Analysis of mRNA demonstrates skipping of exon 6. - - - Japanese - - - - 1 Raymond Dalgleish
+?/. 6i c.279+1_279+5del r.spl p.? - - Unknown - likely pathogenic g.94030933_94030937del g.94401621_94401625del - - COL1A2_000910 - - - - De novo - - - - - DNA SEQ, SEQ-NG blood - ? - - - - - Italy - - - - - 1 Lucia Micale
+/+ 6i c.279+2T>C r.spl p.? splicing affected? - Unknown - pathogenic g.94030934T>C - - - COL1A2_000230 - PubMed: Weil et al., 1988 - rs72656357 Unknown - - - - - DNA, RNA PCR, RT-PCR, SEQ - - EDS, EDSARTH2 - PubMed: Weil et al., 1988 Skips exon 6. This patient was previously described by {PMID3680255:Wirtz et al., 1987} - - - - - - - - 1 Raymond Dalgleish
+/+ 6i c.279+2T>C r.spl p.? splicing affected? - Unknown - pathogenic g.94030934T>C - - - COL1A2_000230 - PubMed: Ho et al., 1994 - rs72656357 Unknown - - - - - DNA, RNA PCR, RT-PCR, SEQ - - EDS, EDSARTH2 - PubMed: Ho et al., 1994 - - - - - - - - - 1 Raymond Dalgleish
+/+ 6i c.279+2T>C r.spl p.? splicing affected? - Unknown - pathogenic g.94030934T>C - - - COL1A2_000230 - PubMed: Giunta et al., 1999 - rs72656357 Unknown - - - - - DNA, RNA PCR, RT-PCR, SEQ - - EDS, EDSARTH2 - PubMed: Giunta et al., 1999 - - - - - - - - - 1 Raymond Dalgleish
+/+ 6i c.279+2T>C r.spl p.? splicing affected? - Unknown - pathogenic g.94030934T>C - - - COL1A2_000230 - PubMed: Melis et al., 2012 - rs72656357 Unknown - - - - - DNA SEQ - - EDS, EDSARTH2 - PubMed: Melis et al., 2012 - - - - - - - - - 1 Raymond Dalgleish
+/+ 6i c.279+2T>G r.spl p.? splicing affected? - Unknown - pathogenic g.94030934T>G - - - COL1A2_000460 - PubMed: Klaassens et al., 2011 - - Unknown - - - - - DNA PCR, SEQ - - EDS, EDSARTH2 - PubMed: Klaassens et al., 2011 The mother may have some connective tissue disorder, but the patient's mutation is not found in lymphocyte DNA. The mother has a Beighton hypermobility score of 4/9. - - - white - - - - 1 Raymond Dalgleish
+/. 6i c.279+2T>G r.spl p.? - - Unknown - pathogenic g.94030934T>G g.94401622T>G - - COL1A2_000460 - - - - De novo - - - - - DNA SEQ, SEQ-NG blood - EDS - - - - - Italy - - - - - 1 Lucia Micale
+/+ 6i_11i c.280-1149_540+63del r.? p.(Gly94_Arg180del) deletion, multi exon - Paternal (confirmed) - pathogenic g.94032719_94035101del - - - COL1A2_000208 - PubMed: Mundlos et al., 1996 - rs74315105 Unknown - - - - - DNA, RNA PCR, RT-PCR, SEQ, Southern - - OI, OI1 - PubMed: Mundlos et al., 1996 This mutation deletes exons 7 to 11 and in terms of genomic coordinates is g.13847_16229del - - - - - - - - 1 Raymond Dalgleish
?/- 7 c.287T>A r.(?) p.(Met96Lys) missense - Unknown - VUS g.94033875T>A - - - COL1A2_000583 - - - - Unknown - - - - - DNA SEQ-NG - - EDS - - The technique used was the custom NGS Gene panel. - - - white - - - - 1 Simon Bodek
+/+ 7 c.293dup r.(?) p.(Arg99*) frameshift - Unknown - pathogenic g.94033881dup - - - COL1A2_000209 - PubMed: Malfait et al., 2006 - - Unknown - - - - - DNA PCR, SEQ, SSCA - - EDS - PubMed: Malfait et al., 2006 The patient is descibed as having a rare form of Ehlers-Danlos syndrome with hypermobility and a propensity to cardiac valvular problems. - - - - - - - - 1 Raymond Dalgleish
+/. 7 c.299G>A r.(?) p.(Gly100Asp) missense - Maternal (confirmed) ACMG pathogenic (dominant) g.94033887G>A g.94404575G>A - - COL1A2_000936 patient has affected mother carrying the same variant - - - Germline yes - - - - DNA SEQ, SEQ-NG-IT - marco.ritelli EDS ED2176 - 2-generation family, boy and affected mother carrying the same variant M no Italy - - - - - 2 Marco Ritelli
-?/. 7 c.304C>T r.(?) p.(Pro102Ser) - - Unknown - likely benign 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 - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/-? 7 c.304C>T r.(?) p.(Pro102Ser) missense Pro12Ser Paternal (inferred) - VUS g.94033892C>T - - - COL1A2_000559 - PubMed: Lindahl et al., 2015 - - Unknown - - - - - DNA PCR, SEQ - - OI, OI1 - PubMed: Lindahl et al., 2015 The patient harbours the c.577G>A and c.304C>T variants in cis. - - - Swedish - - - - 1 Katarina Lindahl
-/-? 7 c.304C>T r.(?) p.(Pro102Ser) missense Pro12Ser Unknown - likely benign g.94033892C>T - - - COL1A2_000559 - PubMed: Lindahl et al., 2015 - - Unknown - - - - - DNA PCR, SEQ - - OI, OI1 - PubMed: Lindahl et al., 2015 - - - - Swedish - - - - 1 Katarina Lindahl
-?/. 7 c.304C>T r.(?) p.(Pro102Ser) - - Unknown - likely benign g.94033892C>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 - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 7 c.316G>A r.(?) p.(Gly106Arg) missense - Maternal (confirmed) - pathogenic g.94033904G>A - - - COL1A2_000680 - Morlino et al., submitted 2019 - - Unknown - - - - - DNA PCR, SEQ - - EDS - Morlino et al., submitted 2019 Son of affected individual AN_005714. - - - Italian - - - - 1 Marina Colombi, Marco Ritelli
+/+ 7i c.324+4del r.spl? p.? splicing affected? - Unknown - pathogenic g.94033916del - - - COL1A2_000479 - PubMed: Malfait et al., 2013 - - Unknown - - - - - DNA PCR, SEQ - - EDS - PubMed: Malfait et al., 2013 - - - - - - - - - 1 Sofie Symoens
+/+ 8 c.326G>A r.(?) p.(Gly109Asp) missense Gly19Asp Unknown - pathogenic g.94034006G>A - - - COL1A2_000463 - PubMed: Malfait et al., 2013 - - Unknown - - - - - DNA PCR, SEQ - - EDS - PubMed: Malfait et al., 2013 - - - - - - - - - 1 Sofie Symoens
+/+ 8 c.326G>A r.(?) p.(Gly109Asp) missense Gly19Asp Maternal (inferred) - pathogenic g.94034006G>A - - - COL1A2_000463 - PubMed: Lindahl et al., 2015 - - Unknown - - - - - DNA PCR, SEQ - - EDS - PubMed: Lindahl et al., 2015 - - - - Swedish - - - - 1 Katarina Lindahl
+/. - c.326G>A r.(?) p.(Gly109Asp) - - Unknown - pathogenic g.94034006G>A - COL1A2(NM_000089.4):c.326G>A (p.G109D) - COL1A2_000463 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/+ 8 c.326G>T r.(?) p.(Gly109Val) missense - Paternal (confirmed) - VUS g.94034006G>T - - - COL1A2_000682 - - - - Unknown - - - - - DNA SEQ-NG - - - - - - - - - - - - - - - -
?/. 8 c.329C>T r.(?) p.(Pro110Leu) - - Unknown - VUS g.94034009C>T g.94404697C>T - - COL1A2_000911 - - - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG blood - ? - - - - - Italy - - - - - 1 Lucia Micale
+/+ 8 c.335G>A r.(?) p.(Gly112Asp) missense Gly22Asp Unknown - pathogenic g.94034015G>A - - - COL1A2_000590 - PubMed: Lin et al., 2015 - - Unknown - - - - - DNA PCR, SEQ - - OI, OI1 - PubMed: Lin et al., 2015 - - - - Taiwanese - - - - 1 Raymond Dalgleish
+?/. 8 c.335G>T r.(?) p.(Gly112Val) - - Unknown - likely pathogenic g.94034015G>T g.94404703G>T - - COL1A2_000432 - - - - Unknown - - - - - DNA SEQ blood - EDS Family3-P7 - - F ? Switzerland - 19y - - - 1 Lucia Micale
+/+ 8 c.335G>T r.(?) p.(Gly112Val) missense Gly22Val Unknown - pathogenic g.94034015G>T - - - COL1A2_000432 - - - - Unknown - - - - - DNA DHPLC, SEQ - - OI, OI1 - - - - - - - - - - - 1 Margherita Maioli
+/+ 8 c.335G>T r.(?) p.(Gly112Val) missense Gly22Val Maternal (confirmed) - pathogenic g.94034015G>T - - - COL1A2_000432 - - - - Unknown - - - - - DNA SEQ - - OI, OI1 - - - - - - - - - - - 1 Margherita Maioli
+/+ 8 c.335G>T r.(?) p.(Gly112Val) missense Gly22Val Maternal (confirmed) - pathogenic g.94034015G>T - - - COL1A2_000432 - - - - Unknown - - - - - DNA SEQ - - OI, OI1 - - - - - - - - - - - 1 Margherita Maioli
+/+ 8 c.335G>T r.(?) p.(Gly112Val) missense Gly22Val Unknown - pathogenic g.94034015G>T - - - COL1A2_000432 - - - - Unknown - - - - - DNA SEQ - - OI, OI1 - - - - - - - - - - - 1 Margherita Maioli
+/+ 8 c.343G>A r.(?) p.(Gly115Arg) missense Gly25Arg Unknown - pathogenic g.94034023G>A - - - COL1A2_000396 - - - - Unknown - - - - - DNA SEQ - - OI, OI1 - - - - - - - - - - - 1 Isabel Mandy Nesbitt
+/+ 8 c.353G>A r.(?) p.(Gly118Asp) missense Gly28Asp Unknown - pathogenic g.94034033G>A - - - COL1A2_000001 - PubMed: Marini et al., 2007 (Körkkö and Prockop, personal communication) - rs72656358 Unknown - - - - - ? ? - - OI, OI1 - PubMed: Marini et al., 2007 (Körkkö and Prockop, personal communication) - - - - - - - - - 1 Raymond Dalgleish
+?/. 8 c.353G>A r.(?) p.(Gly118Asp) - - Unknown - likely pathogenic g.94034033G>A g.94404721G>A - - COL1A2_000001 - Leone 2023, submitted - - Germline - - - - - DNA SEQ, SEQ-NG blood - OI P-0149 Leone 2023, submitted - - - Italy - - - - - 1 Maria Pia Leone
+/+ 8 c.353G>T r.(?) p.(Gly118Val) missense - Unknown - pathogenic g.94034033G>T - - - COL1A2_000594 - PubMed: Mansfield and Rahme, 2015 - - Unknown - - - - - DNA SEQ - - OI, OI1 - PubMed: Mansfield and Rahme, 2015 The patient had an aneurysm of the recurrent artery of Heubner. Her brother and daughter also harbour the same variant, details of which are not presented in the paper but were provided by the authors. - - - - - - - - 1 Raymond Dalgleish
-?/. - c.360T>C r.(?) p.(=) - - Unknown - likely benign g.94034040T>C - COL1A2(NM_000089.4):c.360T>C (p.P120=) - COL1A2_000975 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 8 c.362G>A r.(?) p.(Gly121Asp) missense Gly31Asp Unknown - pathogenic g.94034042G>A - - - COL1A2_000324 - - - - Unknown - - - - - DNA SEQ - - OI, OI1 - - - - - - white - - - - 1 Peter Roughley
+/+ 8 c.371G>A r.(?) p.(Gly124Asp) missense Gly34Asp Unknown - pathogenic g.94034051G>A - - - COL1A2_000002 - PubMed: Marini et al., 2007 (Byers, personal communication) - rs72656359 Unknown - - - - - ? ? - - OI, OI4 - PubMed: Marini et al., 2007 (Byers, personal communication) - - - - - - - - - 1 Peter Byers
+/+ 8 c.371G>A r.(?) p.(Gly124Asp) missense Gly34Asp Unknown - pathogenic g.94034051G>A - - - COL1A2_000002 - PubMed: Balasubramanian et al., 2015 - rs72656359 Unknown - - - - - DNA arrayCGH, SEQ-NG - - OI - PubMed: Balasubramanian et al., 2015 ArrayCGH identified an 8.8 Mb deletion of chromosome 11q24.2q25, involving nucleotide basepairs 126,026,082–134,868,420 (GRCh37 genome assembly) in addition to the COL1A2 variant.The technique used was the custom NGS Gene panel. - - - Pakistani - - - - 1 Raymond Dalgleish
+/+ 8 c.371G>A r.(?) p.(Gly124Asp) missense Gly34Asp Maternal (inferred) - pathogenic g.94034051G>A - - - COL1A2_000002 - - - rs72656359 Unknown - - - - - DNA SEQ - - OI, OI4 - - - - - - - - - - - 1 Ken Poole
+/+ 9 c.380G>A r.(?) p.(Gly127Asp) missense Gly37Asp Unknown - pathogenic g.94034152G>A - - - COL1A2_000343 - Li, 2009 ASHG Meeting 2009 Program Number: 2630 - - Unknown - - - - - ? ? - - OI - Li, 2009 ASHG Meeting 2009 Program Number: 2630 The proband is reported as having blue sclerae, joint laxity and dental crowding, but no history of fracture. He was also noted to osteosclerotic changes on X rays. - - - white - - - - 1 Raymond Dalgleish
+/+ 9 c.380G>A r.(?) p.(Gly127Asp) missense Gly37Asp Unknown - pathogenic g.94034152G>A - - - COL1A2_000343 - - - - Unknown - - - - - DNA SEQ - - OI, OI1 - - - - - - white - - - - 1 Peter Roughley
+/+ 9 c.389G>A r.(?) p.(Gly130Asp) missense Gly40Asp Unknown - pathogenic g.94034161G>A - - - COL1A2_000003 - PubMed: Marini et al., 2007 (Hyland and Prockop, personal communication) - rs72656360 Unknown - - - - - ? ? - - OI, OI4 - PubMed: Marini et al., 2007 (Hyland and Prockop, personal communication) - - - - - - - - - 1 Raymond Dalgleish
-?/. 9 c.390T>A r.(?) p.(Gly130=) - - Unknown - likely benign g.94034162T>A - COL1A2(NM_000089.3):c.390T>A (p.G130=) - COL1A2_000884 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.395G>A r.(?) p.(Arg132His) missense - Unknown - pathogenic (dominant) g.94034167G>A - - - COL1A2_000907 - PubMed: Ohata 2019 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - capture panel for sequencing 15 candidate OI genes and 19 candidate genes that are associated with bone fragility or Wnt signaling OI1 Pat11 PubMed: Ohata 2019 - - - Japan - - - - - 1 Lisanne Wisse
+/+ 9 c.397G>A r.(?) p.(Gly133Ser) missense Gly43Ser Unknown - pathogenic g.94034169G>A - - - COL1A2_000004 - PubMed: Marini et al., 2007 (Byers, personal communication) - rs72656361 Unknown - - - - - ? ? - - OI, OI4 - PubMed: Marini et al., 2007 (Byers, personal communication) - - - - - - - - - 1 Peter Byers
+?/. 9 c.406G>A r.(?) p.(Gly136Ser) - - Maternal (inferred) - likely pathogenic g.94034178G>A g.94404866G>A - - COL1A2_000912 - - - - Germline - - - - - DNA SEQ, SEQ-NG blood - ? - - - - - Italy - - - - - 1 Lucia Micale
+?/+ 9 c.407G>A r.(?) p.(Gly136Asp) missense Gly46Asp Unknown - pathogenic g.94034179G>A - - - COL1A2_000587 - - - - Unknown - - - - - DNA SEQ - - OI, OI1 - - - - - - - - - - - 1 Eva Gonzalez-Roca
+/+ 9 c.416G>T r.(?) p.(Gly139Val) missense Gly49Val Unknown - pathogenic g.94034188G>T - - - COL1A2_000408 - - - - Unknown - - - - - DNA SEQ - - OI, OI1 - - - - - - - - - - - 1 Isabel Mandy Nesbitt
+?/. 9 c.425G>A r.(?) p.(Gly142Asp) - - Paternal (inferred) - likely pathogenic g.94034197G>A g.94404885G>A - - COL1A2_000913 - - - - Germline - - - - - DNA SEQ, SEQ-NG blood - ? - - - - - Italy - - - - - 1 Lucia Micale
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