Full data view for gene COL1A2


Osteogenesis Imperfecta Variant Database

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

1862 entries on 19 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
+/+? 1 c.12T>G r.(?) p.(Phe4Leu) missense - Unknown - VUS g.94024355T>G - - - COL1A2_000732 - PubMed: Zhang et al., 2017 - - Unknown - - - - - DNA SEQ - - OI - PubMed: Zhang et al., 2017 - - - - Han Chinese - - - - 1 Raymond Dalgleish
+/+ 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 - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.71-7dup r.(=) p.(=) - - Unknown - benign g.94027053dup - COL1A2(NM_000089.4):c.71-7dupT - COL1A2_000816 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.71-6C>A r.(=) p.(=) - - Unknown - likely benign g.94027054C>A - - - chr7_007652 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
-/. - c.96+10C>T r.(=) p.(=) - - Unknown - benign g.94027718C>T - COL1A2(NM_000089.4):c.96+10C>T - COL1A2_001004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.96+10C>T r.(=) p.(=) - - Unknown - likely benign g.94027718C>T - COL1A2(NM_000089.4):c.96+10C>T - COL1A2_001004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.97-2A>G r.(?) p.(?) - - Unknown - VUS g.94028359A>G - - - COL1A2_001049 - - - - Unknown - - - - - - - - - - - - - - - - - - - - - - -
+/+? 4 c.110A>G r.(?) p.(Asp37Gly) missense - Unknown - VUS g.94028374A>G - - - COL1A2_000733 - PubMed: Zhang et al., 2017 - - Unknown - - - - - DNA SEQ - - OI - PubMed: Zhang et al., 2017 - - - - Han Chinese - - - - 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.118C>A r.(?) p.(Pro40Thr) missense - Unknown ACMG VUS g.94028382C>A g.94399070C>A - - COL1A2_000391 - PubMed: Junkiert-Czarnecka et al., 2022 - - Unknown - - - - - DNA SEQ-NG-I Leukocyte DNA - EDSCL1 28 PubMed: Junkiert-Czarnecka et al., 2022 - ? ? Poland - - - - - 1 Oumaima Nehaili
-/. - 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
-?/. - c.225+38T>C r.(=) p.(=) - - Unknown - likely benign g.94029638T>C - COL1A2(NM_000089.4):c.225+38T>C - COL1A2_000984 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 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
-/. - c.226-12_226-11dup r.(=) p.(=) - - Unknown - benign g.94030867_94030868dup - COL1A2(NM_000089.3):c.226-12_226-11dupTT - COL1A2_000985 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 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
-/. - c.246T>C r.(?) p.(Asp82=) - - Unknown - benign g.94030899T>C - COL1A2(NM_000089.4):c.246T>C (p.D82=) - COL1A2_000309 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.256G>C r.(?) p.(Val86Leu) - - Unknown - likely benign g.94030909G>C - - - COL1A2_001019 - - - rs777971816 CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 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
?/. - c.279+9A>C r.(=) p.(=) - - Unknown - VUS g.94030941A>C - COL1A2(NM_000089.4):c.279+9A>C - COL1A2_001042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 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
+?/. - c.292C>T r.(?) p.(Pro98Ser) - - Unknown - likely pathogenic g.94033880C>T - - - COL1A2_000982 - - - rs765868569 CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 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.299G>A r.(?) p.(Gly100Asp) missense - Maternal (confirmed) ACMG likely pathogenic (maternal) g.94033887G>A g.94404574G>A - - COL1A2_000936 This patient has an affected mother carrying the same variant. - - - Germline yes - - - - DNA PCR, SEQ, SEQ-NG-IT blood - EDS - - - M no Italy - - - - - 1 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
+?/. - c.352G>C r.(?) p.(Gly118Arg) - - Unknown - likely pathogenic g.94034032G>C g.94404720G>C - - COL1A2_001037 ACMG PubMed: Tuysuz 2022 - - De novo - - - - - DNA SEQ, SEQ-NG - gene panel OI Pat53 PubMed: Tuysuz 2022 - - - Turkey - - - - - 1 Johan den Dunnen
+/+ 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
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