View all genomic variants

2521 entries on 26 pages. Showing entries 1 - 100.
Legend   « First ‹ Prev     1 2 3 4 5 6 7 8 9 10 11 ...     Next › Last »

Variant ID     

Effect     

Chr     

AscendingDNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Variant remarks     

Genetic origin     

Segregation     

InSiGHT Classification     

Owner     
0000004874 ?/. 1 g.45797846G>A - MUTYH_000001 - - Germline (inherited) ? - Esther Sarasola
0000002494 +/+ 2 g.(?_47630263)_(47657081_47672686)del Liu 2001, {OMIM600258:0001} MSH2_000038 - - Germline (inherited) yes - Johan den Dunnen
0000002495 +/+ 2 g.(?_47630263)_(47657081_47672686)del Liu 2001, {OMIM600258:0001} MSH2_000038 - - Germline (inherited) yes - Johan den Dunnen
0000002762 +?/+ 2 g.? - chr2_000033 - - Germline (inherited) - - Carli Tops
0000002763 ?/+ 2 g.? Nilbert et al., 2008 chr2_000033 - deletion entire gene Germline (inherited) - - Michael Woods
0000002764 ?/+ 2 g.? - chr2_000033 - - Germline (inherited) - - Amanda Spurdle
0000002765 ?/+ 2 g.? Kets et al., 2006 chr2_000033 - deletion of exon 1-2 Germline (inherited) - - Michael Woods
0000002766 ?/+ 2 g.? Overbeek et al., 2007 chr2_000033 - - Germline (inherited) - - Michael Woods
0000002767 -/? 2 g.? {microatt:1002595, Carli Tops} chr2_000033 - deletion of 21.6 kb around exon 1+2, in cis with c.2008G>A,p.Gly670Arg Germline (inherited) - - InSiGHT group
0000002768 -/? 2 g.? {microatt:1003589, Daniela Barana} chr2_000033 - - Germline (inherited) - - InSiGHT group
0000002769 -/? 2 g.? Ligtenberg et al., 2009 chr2_000033 - - Germline (inherited) - - Johan den Dunnen
0000002770 -/? 2 g.? Ligtenberg et al., 2009 chr2_000033 - - Germline (inherited) - - Johan den Dunnen
0000002771 -/? 2 g.? Ligtenberg et al., 2009 chr2_000033 - - Germline (inherited) - - Johan den Dunnen
0000002772 -/? 2 g.? Ligtenberg et al., 2009 chr2_000033 - - Germline (inherited) - - Johan den Dunnen
0000002773 +/? 2 g.? Ligtenberg et al., 2009 chr2_000033 - - Germline (inherited) - - Johan den Dunnen
0000002774 ?/? 2 g.? Ligtenberg et al., 2009 chr2_000033 - - Germline (inherited) - - Johan den Dunnen
0000002775 ?/? 2 g.? - chr2_000033 - Submitter has reported the nomenclature for deletion of MSH2 exon 1 to 3 not MSH6 Germline (inherited) - - José Luis Soto
0000002833 ?/? 2 g.? Maxwell et al., 2008 chr2_000033 - identified in a glioblastoma multiforme tumour sample Somatic - - Michael Woods
0000002834 ?/? 2 g.? - chr2_000033 - - Germline (inherited) - - Felipe Silva
0000002835 ?/? 2 g.? {dbSNP1042821 chr2_000033 - - Germline (inherited) - - Felipe Silva
0000003131 ?/? 2 g.? Maxwell et al., 2008 chr2_000033 - identified in a glioblastoma multiforme tumour sample Somatic - - Michael Woods
0000003958 ?/? 2 g.? Plaschke et al., 2003 chr2_000033 - - Germline (inherited) - - Michael Woods
0000003959 ?/? 2 g.? Plaschke et al., 2004 chr2_000033 - 4.9 kb dup exon 4-5; aberrant splicing Germline (inherited) - - Michael Woods
0000004035 +/? 2 g.? - chr2_000033 - - Germline (inherited) - - Prof. Dr. med. Peter Propping
0000004285 ?/? 2 g.? {microatt:1003203, Desiree du Sart} chr2_000033 - - Germline (inherited) - - InSiGHT group
0000004286 ?/? 2 g.? {microatt:1003281, Desiree du Sart} chr2_000033 - - Germline (inherited) - - InSiGHT group
0000004287 ?/? 2 g.? {microatt:1003159, Desiree du Sart} chr2_000033 - - Germline (inherited) - - InSiGHT group
0000004288 ?/? 2 g.? {microatt:1003165, Desiree du Sart} chr2_000033 - - Germline (inherited) - - InSiGHT group
0000004289 ?/? 2 g.? {microatt:1003196, Desiree du Sart} chr2_000033 - - Germline (inherited) - - InSiGHT group
0000004290 ?/? 2 g.? {microatt:1003281, Desiree du Sart} chr2_000033 - - Germline (inherited) - - InSiGHT group
0000004291 ?/? 2 g.? {microatt:1003159, Desiree du Sart} chr2_000033 - - Germline (inherited) - - InSiGHT group
0000004292 ?/? 2 g.? {microatt:1003165, Desiree du Sart} chr2_000033 - - Germline (inherited) - - InSiGHT group
0000004293 ?/? 2 g.? {microatt:1003196, Desiree du Sart} chr2_000033 - - Germline (inherited) - - InSiGHT group
0000004294 ?/? 2 g.? {microatt:1003281, Desiree du Sart} chr2_000033 - - Germline (inherited) - - InSiGHT group
0000004295 ?/? 2 g.? {microatt:1003203, Desiree du Sart} chr2_000033 - - Germline (inherited) - - InSiGHT group
0000004296 ?/? 2 g.? {microatt:1003159, Desiree du Sart} chr2_000033 - - Germline (inherited) - - InSiGHT group
0000004297 ?/? 2 g.? {microatt:1003165, Desiree du Sart} chr2_000033 - - Germline (inherited) - - InSiGHT group
0000004298 ?/? 2 g.? {microatt:1003196, Desiree du Sart} chr2_000033 - - Germline (inherited) - - InSiGHT group
0000004299 ?/? 2 g.? {microatt:1003204, Desiree du Sart} chr2_000033 - - Germline (inherited) - - InSiGHT group
0000004300 ?/? 2 g.? {microatt:1003281, Desiree du Sart} chr2_000033 - - Germline (inherited) - - InSiGHT group
0000004301 ?/? 2 g.? {microatt:1003159, Desiree du Sart} chr2_000033 - - Germline (inherited) - - InSiGHT group
0000004302 ?/? 2 g.? {microatt:1003165, Desiree du Sart} chr2_000033 - - Germline (inherited) - - InSiGHT group
0000004303 ?/? 2 g.? {microatt:1003196, Desiree du Sart} chr2_000033 - - Germline (inherited) - - InSiGHT group
0000004304 ?/? 2 g.? {microatt:1003281, Desiree du Sart} chr2_000033 - - Germline (inherited) - - InSiGHT group
0000004305 ?/? 2 g.? {microatt:1002880, Mensenkamp and Ligtenberg} chr2_000033 - - Germline (inherited) - - InSiGHT group
0000004951 +/? 2 g.47630263_47630541del - chr2_000704 - Submitted by ICCon – South Australia Germline (inherited) - - ICCon
0000004948 +/? 2 g.47630263_47643568del - chr2_000701 - Submitted by ICCon – South Australia Germline (inherited) - - ICCon
0000004949 +/? 2 g.47630263_47657080del - chr2_000702 - Submitted by ICCon – South Australia Germline (inherited) - - ICCon
0000004950 +/? 2 g.47630263_47672796del - chr2_000703 - Submitted by ICCon – South Australia Germline (inherited) - - ICCon
0000004475 +/? 2 g.47630331_47630541del - chr2_000533 - ICCON data, Royal Prince Alfred/Liverpool, NSW Germline (inherited) - - John Paul Plazzer
0000004541 +/? 2 g.47630331_47630541del - chr2_000533 - ICCON data, Westmead, NSW Germline (inherited) - - John Paul Plazzer
0000004919 +/? 2 g.47630331_47630541del - chr2_000533 - Submitted by ICCon – South Australia Germline (inherited) - Class 5 ICCon
0000004920 +/? 2 g.47630331_47630541del - chr2_000533 - Submitted by ICCon – South Australia Germline (inherited) - Class 5 ICCon
0000004413 +/? 2 g.47630331_47635694del - chr2_000534 - ICCON data, Prince of Wales Hospital, NSW Germline (inherited) - - John Paul Plazzer
0000004477 +/? 2 g.47630331_47635694del - chr2_000534 - ICCON data, Royal Prince Alfred/Liverpool, NSW Germline (inherited) - - John Paul Plazzer
0000004921 +/? 2 g.47630331_47635694del - chr2_000534 - Submitted by ICCon – South Australia Germline (inherited) - Class 5 ICCon
0000004922 +/? 2 g.47630331_47635694del - chr2_000534 - Submitted by ICCon – South Australia Germline (inherited) - Class 5 ICCon
0000004542 +/? 2 g.47630331_47639699del - chr2_000610 - ICCON data, Westmead, NSW Germline (inherited) - - John Paul Plazzer
0000004412 +/? 2 g.47630331_47657080del - chr2_000579 - ICCON data, Prince of Wales Hospital, NSW Germline (inherited) - - John Paul Plazzer
0000004540 +/? 2 g.47630331_47657080del - chr2_000579 - ICCON data, Westmead, NSW Germline (inherited) - - John Paul Plazzer
0000004476 +/? 2 g.47630331_47693947del - chr2_000598 - ICCON data, Royal Prince Alfred/Liverpool, NSW Germline (inherited) - - John Paul Plazzer
0000002529 +/? 2 g.47630331_47705658del Sjursen, W., McPhillips, M., Scott, R. J. and Talseth-Palmer, B. A. (2016), Lynch syndrome mutation spectrum in New South Wales, Australia, including 55 novel mutations. Mol Genet Genomic Med. doi:10.1002/mgg3.198 MSH2_000046 - Exon deletion (1-14) Germline (inherited) ? - John Paul Plazzer
0000004932 +/? 2 g.47630349_47630350insT - chr2_000688 - Submitted by ICCon – South Australia Germline (inherited) - - ICCon
0000002501 ?/. 2 g.47630468C>G - MSH2_000039 - Segregation Likelihood Ratio = 0.9735 Germline (inherited) ? Class 3 Bryony A Thompson
0000004480 +/? 2 g.47630472G>T - chr2_000600 - ICCON data, Royal Prince Alfred/Liverpool, NSW Germline (inherited) - - John Paul Plazzer
0000004552 +/? 2 g.47630493delC - chr2_000615 - ICCON data, Westmead, NSW Germline (inherited) - - John Paul Plazzer
0000004558 +/? 2 g.47630516dupGG - chr2_000621 - ICCON data, Westmead, NSW Germline (inherited) - - John Paul Plazzer
0000004934 +/? 2 g.47630522dupC - chr2_000690 - Submitted by ICCon – South Australia Germline (inherited) - - ICCon
0000004936 +/? 2 g.47630539C>T - chr2_000692 - Submitted by ICCon – South Australia Germline (inherited) - - ICCon
0000004381 +/. 2 g.47634014_47635252del Liu et al. (2015) MSH2_000075 - - Germline (inherited) - - Robyn Ward
0000004384 +/. 2 g.47634014_47635252del Liu et al. (2015) MSH2_000075 - - Germline (inherited) - - Robyn Ward
0000004382 +/? 2 g.47635255_47653048inv Liu et al. (2015) MSH2_000076 - - Germline (inherited) - - Robyn Ward
0000004385 +/. 2 g.47635255_47653048inv Liu et al. (2015) MSH2_000076 - - Germline (inherited) - - Robyn Ward
0000004669 +?/+? 2 g.47635539G>A - chr2_000652 - - Germline (inherited) - Class 4 Gabriel Capellá
0000002531 +/? 2 g.47635540del Sjursen, W., McPhillips, M., Scott, R. J. and Talseth-Palmer, B. A. (2016), Lynch syndrome mutation spectrum in New South Wales, Australia, including 55 novel mutations. Mol Genet Genomic Med. doi:10.1002/mgg3.198 MSH2_000048 - Frameshift Germline (inherited) ? - John Paul Plazzer
0000002530 +/? 2 g.47635540_47639699del Sjursen, W., McPhillips, M., Scott, R. J. and Talseth-Palmer, B. A. (2016), Lynch syndrome mutation spectrum in New South Wales, Australia, including 55 novel mutations. Mol Genet Genomic Med. doi:10.1002/mgg3.198 MSH2_000047 - Exon deletion (2-4). Duplication is reported. Germline (inherited) ? - John Paul Plazzer
0000004564 +/? 2 g.47635540_47639699del - MSH2_000047 - ICCON data, Westmead, NSW Germline (inherited) - - John Paul Plazzer
0000004423 +/? 2 g.47635540_47643568del - chr2_000587 - ICCON data, Prince of Wales Hospital, NSW Germline (inherited) - - John Paul Plazzer
0000004424 +/? 2 g.47635557_47635558delAG - chr2_000588 - ICCON data, Prince of Wales Hospital, NSW Germline (inherited) - - John Paul Plazzer
0000004702 -/. 2 g.47635572A>G Tricarico et al., under revision MSH2_000078 - - In vitro (cloned) - - Alexandra Martins
0000002502 ?/. 2 g.47635588C>G - MSH2_000040 - Segregation Likelihood Ratio = 1.7753 Germline (inherited) - - Bryony A Thompson
0000004566 +/? 2 g.47635617C>T - chr2_000627 - ICCON data, Westmead, NSW Germline (inherited) - - John Paul Plazzer
0000004486 +/? 2 g.47635629G>T - chr2_000604 - ICCON data, Royal Prince Alfred/Liverpool, NSW Germline (inherited) - - John Paul Plazzer
0000002467 ?/? 2 g.47635667G>A - chr2_000005 - - Germline (inherited) - - John Paul Plazzer
0000002532 +?/? 2 g.47635695G>A Sjursen, W., McPhillips, M., Scott, R. J. and Talseth-Palmer, B. A. (2016), Lynch syndrome mutation spectrum in New South Wales, Australia, including 55 novel mutations. Mol Genet Genomic Med. doi:10.1002/mgg3.198 MSH2_000049 - Splice site, p.? (c.366+1G>T is reported as class 4, MSH2_01210) Germline (inherited) ? - John Paul Plazzer
0000004487 +/? 2 g.47635695G>A - MSH2_000049 - ICCON data, Royal Prince Alfred/Liverpool, NSW Germline (inherited) - - John Paul Plazzer
0000004672 +?/+? 2 g.47637227_47637236dup - chr2_000655 - - Germline (inherited) - Class 4 Gabriel Capellá
0000004568 +/? 2 g.47637233_47637511del - chr2_000629 - ICCON data, Westmead, NSW Germline (inherited) - - John Paul Plazzer
0000004567 +/? 2 g.47637233_47643568del - chr2_000628 - ICCON data, Westmead, NSW Germline (inherited) - - John Paul Plazzer
0000002533 +/? 2 g.47637233_47710088del Sjursen, W., McPhillips, M., Scott, R. J. and Talseth-Palmer, B. A. (2016), Lynch syndrome mutation spectrum in New South Wales, Australia, including 55 novel mutations. Mol Genet Genomic Med. doi:10.1002/mgg3.198 MSH2_000050 - Exon deletion (3-16) Germline (inherited) ? - John Paul Plazzer
0000004703 -/- 2 g.47637246A>G Tricarico et al., under revision MSH2_000079 - - In vitro (cloned) - Class 1 Alexandra Martins
0000004704 -/- 2 g.47637246A>G Tricarico et al., under revision MSH2_000079 - - In vitro (cloned) - Class 1 Alexandra Martins
0000004803 -/- 2 g.47637246A>G Alexandra Martins Research Group ("RNA and Genetic Diseases", Inserm U1079, Rouen, France), unpublished MSH2_000079 - - Germline (inherited) - Class 1 Alexandra Martins
0000004807 -/- 2 g.47637246A>G Alexandra Martins Research Group ("RNA and Genetic Diseases", Inserm U1079, Rouen, France), unpublished MSH2_000079 - - Germline (inherited) - Class 1 Alexandra Martins
0000004569 +/? 2 g.47637254delCA - chr2_000630 - ICCON data, Westmead, NSW Germline (inherited) - - John Paul Plazzer
0000004946 +/? 2 g.47637254_47637255delCA - chr2_000699 - Submitted by ICCon – South Australia Germline (inherited) - Class 5 ICCon
0000004947 ?/? 2 g.47637308G>C - chr2_000700 - Submitted by ICCon – South Australia Germline (inherited) - - ICCon
0000002534 +/? 2 g.47637320delA Sjursen, W., McPhillips, M., Scott, R. J. and Talseth-Palmer, B. A. (2016), Lynch syndrome mutation spectrum in New South Wales, Australia, including 55 novel mutations. Mol Genet Genomic Med. doi:10.1002/mgg3.198 MSH2_000051 - Frameshift Germline (inherited) ? - John Paul Plazzer
0000004570 +/? 2 g.47637320delA - MSH2_000051 - ICCON data, Westmead, NSW Germline (inherited) - - John Paul Plazzer
0000004571 +/? 2 g.47637324_47637493del - chr2_000631 - ICCON data, Westmead, NSW Germline (inherited) - - John Paul Plazzer
Legend   « First ‹ Prev     1 2 3 4 5 6 7 8 9 10 11 ...     Next › Last »