Full data view for gene MSH2

Information The variants shown are described using the NM_000251.2 transcript reference sequence.

6346 entries on 64 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

Published as     

RNA change     

Protein     

InSiGHT Class     

Splicing/transcript expression     

Allele     

DNA change (genomic) (hg19)     

Published as     

Reference     

DB-ID     

Frequency     

Variant remarks     

Genetic origin     

Segregation     

Date     

Template     

Technique     

Tissue     

Method     

Disease     

Reference     

Gender     

Geographic origin     

Ethnic origin     

Remarks     

Family History     

Pedigree information available     

Selection criteria for proband testing     

Panel size     

Owner     
?/? 7 c.1275A>G - r.(=) p.(=) Class 3 - Unknown g.47657079A>G - Haraldsdottir et al. Accepted into Nature Communications MSH2_000328 0.26 Carrier frequency in Iceland (%): 0.26; Odds ratio for CRC (95%CI): 0.62 (0.26-1.45) Germline (inherited) - 2015-01-01 ? ? - The whole genomes of 8,453 Icelanders, irrespective of cancer status, were sequenced using Illumina technology to a mean depth of at least 10X, unveiling 31.6 million single nucleotide polymorphisms (SNP) and short insertions/deletions that meet stringent quality criteria. These variants were imputed into 150,656 Icelanders whose DNA had been genotyped with various Illumina SNP chips and phased using long-range phasing. Imputation of 31.6 million variants based on WGS of 8,453 Icelanders. All patients with dMMR CRC diagnosed 2000-2009 had germline DNA genotyped for MMR variants found by WGS of the 8,435 Icelanders. If one of three founder mutations were not found they underwent WGS. CRC Haraldsdottir et al. Accepted into Nature Communications - Iceland - - - - - 1 Sigurdis Haraldsdottir
?/? 8 c.1284C>G - r.(?) p.(His428Gln) - - Unknown g.47672694C>G - Haraldsdottir et al. Accepted into Nature Communications MSH2_000044 0.07 Carrier frequency in Iceland (%): 0.07; Odds ratio for CRC (95%CI): 1.85 (0.65-5.25) Germline (inherited) - 2015-01-01 ? ? - The whole genomes of 8,453 Icelanders, irrespective of cancer status, were sequenced using Illumina technology to a mean depth of at least 10X, unveiling 31.6 million single nucleotide polymorphisms (SNP) and short insertions/deletions that meet stringent quality criteria. These variants were imputed into 150,656 Icelanders whose DNA had been genotyped with various Illumina SNP chips and phased using long-range phasing. Imputation of 31.6 million variants based on WGS of 8,453 Icelanders. All patients with dMMR CRC diagnosed 2000-2009 had germline DNA genotyped for MMR variants found by WGS of the 8,435 Icelanders. If one of three founder mutations were not found they underwent WGS. CRC Haraldsdottir et al. Accepted into Nature Communications - Iceland - - - - - 1 Sigurdis Haraldsdottir
?/? 13 c.2164G>A - r.(?) p.(Val722Ile) - - Unknown g.47703664G>A - Haraldsdottir et al. Accepted into Nature Communications MSH2_001114 0.74 Carrier frequency in Iceland (%): 0.74; Odds ratio for CRC (95%CI): 0.79 (0.48-1.3) Germline (inherited) - 2015-01-01 ? ? - The whole genomes of 8,453 Icelanders, irrespective of cancer status, were sequenced using Illumina technology to a mean depth of at least 10X, unveiling 31.6 million single nucleotide polymorphisms (SNP) and short insertions/deletions that meet stringent quality criteria. These variants were imputed into 150,656 Icelanders whose DNA had been genotyped with various Illumina SNP chips and phased using long-range phasing. Imputation of 31.6 million variants based on WGS of 8,453 Icelanders. All patients with dMMR CRC diagnosed 2000-2009 had germline DNA genotyped for MMR variants found by WGS of the 8,435 Icelanders. If one of three founder mutations were not found they underwent WGS. CRC Haraldsdottir et al. Accepted into Nature Communications - Iceland - - - - - 1 Sigurdis Haraldsdottir
?/? 13i c.2210+7G>T - r.spl p.(=) - - Unknown g.47703717G>T - Haraldsdottir et al. Accepted into Nature Communications MSH2_000175 1.94 Carrier frequency in Iceland (%): 1.94; Odds ratio for CRC (95%CI): 0.68 (0.50-0.93) Germline (inherited) - 2015-01-01 ? ? - The whole genomes of 8,453 Icelanders, irrespective of cancer status, were sequenced using Illumina technology to a mean depth of at least 10X, unveiling 31.6 million single nucleotide polymorphisms (SNP) and short insertions/deletions that meet stringent quality criteria. These variants were imputed into 150,656 Icelanders whose DNA had been genotyped with various Illumina SNP chips and phased using long-range phasing. Imputation of 31.6 million variants based on WGS of 8,453 Icelanders. All patients with dMMR CRC diagnosed 2000-2009 had germline DNA genotyped for MMR variants found by WGS of the 8,435 Icelanders. If one of three founder mutations were not found they underwent WGS. CRC Haraldsdottir et al. Accepted into Nature Communications - Iceland - - - - - 1 Sigurdis Haraldsdottir
?/? 14 c.2445T>A - r.(?) p.(Tyr815*) - - Unknown g.47705645T>A - Haraldsdottir et al. Accepted into Nature Communications MSH2_000182 - Found in 1 family Germline (inherited) - 2015-01-01 ? SEQ - WGS CRC Haraldsdottir et al. Accepted into Nature Communications - Iceland - - - - Variant found in 1 family with CRC outside 2000-2009 period - 1 individual with variant and cancer had tumor testing 1 Sigurdis Haraldsdottir
?/+ 6i_16_ c.(1076+1_1077-1)_(*279_?)del del Ex7_16, =153 kb r.spl p.? Class 5 - Unknown g.(47643569_47656880)_(47710367_?)del - van der Klift et al., 2005 MSH2_000306 - - Germline (inherited) - - DNA Southern - - ? van der Klift et al., 2005 ? DK - InSiGHT LOVDv2 ID:8288; - - - 1 Carli Tops
?/+ 6i_16_ c.(1076+1_1077-1)_(*279_?)del Deletion of Exon 7-16 r.spl p.? Class 5 - Unknown g.(47643569_47656880)_(47710367_?)del - Oh et al., 1999 MSH2_000306 - - In vitro (cloned) - - ? ? - - ? - ? - - InSiGHT LOVDv2 ID:1000033; - - - 1 Michael Woods
?/+ 6i_16_ c.(1076+1_1077-1)_(*279_?)del Deletion of Exon 7-16 r.spl p.? Class 5 - Unknown g.(47643569_47656880)_(47710367_?)del - Baudhuin et al., 2005 MSH2_000306 - - Germline (inherited) - - ? ? - - ? - ? - - InSiGHT LOVDv2 ID:1002683; - - - 1 Michael Woods
?/+ 6i_16_ c.(1076+1_1077-1)_(*279_?)del Deletion of Exon 7-16 r.spl p.? Class 5 - Unknown g.(47643569_47656880)_(47710367_?)del - Martinez-Bouzas et al., 2007 MSH2_000306 - - Germline (inherited) - - ? ? - - ? - ? - - InSiGHT LOVDv2 ID:1002684; - - - 1 Michael Woods
?/+ 6i_16_ c.(1076+1_1077-1)_(*279_?)del Deletion of Exon 7-16 r.spl p.? Class 5 - Unknown g.(47643569_47656880)_(47710367_?)del - Kurzawski et al., 2006 MSH2_000306 - - Germline (inherited) - - ? ? - - ? - ? - - InSiGHT LOVDv2 ID:1002686; - - - 1 Michael Woods
?/+ 7i_16_ c.(1276+1_1277-1)_(*279_?)del Deletion of Exon 8-16, =47 kb r.spl p.? Class 5 - Unknown g.(47657081_47672686)_(47710367_?)del - van der Klift et al., 2005 MSH2_000372 - - Germline (inherited) - - DNA Southern - - ? van der Klift et al., 2005 ? NL - InSiGHT LOVDv2 ID:1000007; - - - 1 Carli Tops
?/+ 7i_16_ c.(1276+1_1277-1)_(*279_?)del Deletion of Exon 8-16 r.spl p.? Class 5 - Unknown g.(47657081_47672686)_(47710367_?)del - Pistorius et al., 2007 MSH2_000372 - - Germline (inherited) - - ? ? - - ? - ? - - InSiGHT LOVDv2 ID:1000034; - - - 1 Michael Woods
?/+ 7i_16_ c.(1276+1_1277-1)_(*279_?)del Deletion of Exon 8-16 r.spl p.? Class 5 - Unknown g.(47657081_47672686)_(47710367_?)del - Zhang et al., 2006 MSH2_000372 - - Germline (inherited) - - ? ? - - ? - ? - - InSiGHT LOVDv2 ID:1002685; - - - 1 Michael Woods
?/+ 7i_16_ c.(1276+1_1277-1)_(*279_?)del Deletion of Exon 8-16 r.spl p.? Class 5 - Unknown g.(47657081_47672686)_(47710367_?)del - Pistorius et al., 2007 MSH2_000372 - - Germline (inherited) - - ? ? - - ? - ? - - InSiGHT LOVDv2 ID:1002687; - - - 1 Michael Woods
?/+ 7i_16_ c.(1276+1_1277-1)_(*279_?)del Deletion of Exon 8-16 r.spl p.? Class 5 - Unknown g.(47657081_47672686)_(47710367_?)del - Bujalkova et al., 2008 MSH2_000372 - - Germline (inherited) - - ? ? - - ? - ? - - InSiGHT LOVDv2 ID:1002688; - - - 1 Michael Woods
?/+ 7i_16_ c.(1276+1_1277-1)_(*279_?)inv Authors describe this as a paracentric inversion; Breakpoints within intron 7 and 10 MB 3' of MSH2 r.spl p.? Class 5 - Unknown g.(47657081_47672686)_(47710367_?)inv - Wagner et al., 2002 MSH2_000000 - - Germline (inherited) - - ? ? - - ? - ? - - InSiGHT LOVDv2 ID:1001236; - - - 1 Michael Woods
?/+ 7i_16_ c.(1276+1_1277-1)_(*279_?)inv Inversion of Exon 8-16 r.spl p.? Class 5 - Unknown g.(47657081_47672686)_(47710367_?)inv - van der Klift et al., 2005 MSH2_000000 - - Germline (inherited) - - DNA Southern - - ? van der Klift et al., 2005 ? US - InSiGHT LOVDv2 ID:8293; - - - 1 Juul Wijnen
?/+ 7i_16_ c.(1276+1_1277-1)_(*279_?)inv Inversion of Exon 8-16 r.spl p.? Class 5 - Unknown g.(47657081_47672686)_(47710367_?)inv - Wagner et al., 2003 MSH2_000000 - - Germline (inherited) - - ? ? - - ? - ? - - InSiGHT LOVDv2 ID:1000035; - - - 1 Michael Woods
?/+ 8i_16_ c.(1386+1_1387-1)_(*279_?)del Exon 9 to Exon 16 c.1387-?_2805+?del p.Val463_*935del r.spl p.? Class 5 - Unknown g.(47672797_47690169)_(47710367_?)del - {microatt:1003105, Desiree du Sart} MSH2_000948 - - Germline (inherited) - - DNA SEQ - - ? - ? - - InSiGHT LOVDv2 ID:1016232; - - - 1 InSiGHT group
?/+ 8i_16_ c.(1386+1_1387-1)_(*279_?)del Deletion of Exon 9-16 r.spl p.? Class 5 - Unknown g.(47672797_47690169)_(47710367_?)del - Akrami et al., 2005 MSH2_000948 - - Germline (inherited) - - ? ? - - ? - ? - - InSiGHT LOVDv2 ID:1001276; - - - 1 Michael Woods
?/+ 8i_16_ c.(1386+1_1387-1)_(*279_?)del Deletion of Exon 9-16 r.spl p.? Class 5 - Unknown g.(47672797_47690169)_(47710367_?)del - Castellvi-Bel et al., 2005 MSH2_000948 - - Germline (inherited) - - ? ? - - ? - ? - - InSiGHT LOVDv2 ID:1001277; - - - 1 Michael Woods
?/+ 8i_16_ c.(1386+1_1387-1)_(*279_?)del Deletion of Exon 9-16 r.spl p.? Class 5 - Unknown g.(47672797_47690169)_(47710367_?)del - Grabowski et al., 2005 MSH2_000948 - - Germline (inherited) - - ? ? - - ? - ? - - InSiGHT LOVDv2 ID:1001278; - - - 1 Michael Woods
?/+ 8i_16_ c.(1386+1_1387-1)_(*279_?)del Deletion of Exon 9-16 r.spl p.? Class 5 - Unknown g.(47672797_47690169)_(47710367_?)del - McVety et al., 2006; Chong et al., 2009 MSH2_000948 - - Germline (inherited) - - ? ? - - ? - ? - - InSiGHT LOVDv2 ID:1001279; - - - 1 Michael Woods
?/+ 8i_16_ c.(1386+1_1387-1)_(*279_?)del Deletion of Exon 9-16 (>19Kb Deletion) r.spl p.? Class 5 - Unknown g.(47672797_47690169)_(47710367_?)del - Taylor et al., 2003 MSH2_000948 - - Germline (inherited) - - ? ? - - ? - ? - - InSiGHT LOVDv2 ID:1003251; - - - 1 Michael Woods
?/+ 8i_16_ c.(1386+1_1387-1)_(*279_?)del Deletion of Exon 9-16 r.spl p.? Class 5 - Unknown g.(47672797_47690169)_(47710367_?)del - Bunyan et al., 2004 MSH2_000948 - - Germline (inherited) - - ? ? - - ? - ? - - InSiGHT LOVDv2 ID:1003252; - - - 1 Michael Woods
?/+ 8i_16_ c.(1386+1_1387-1)_(*279_?)del Deletion of Exon 9-16 r.spl p.? Class 5 - Unknown g.(47672797_47690169)_(47710367_?)del - Pinol et al., 2005; Perez-Carbonell et al., 2012 MSH2_000948 - - Germline (inherited) - - ? ? - - ? - ? - - InSiGHT LOVDv2 ID:1003253; - - - 1 Michael Woods
?/+ 10i_16_ c.(1661+1_1662-1)_(*279_?)del c.1662-?_2805+?del (Del ex11-16 (18 Kb)) r.spl p.Lys555_*935del Class 5 - Unknown g.(47693948_47698103)_(47710367_?)del - {microatt:1000355, José Luis Soto} MSH2_001001 - Unknown Germline (inherited) - - DNA MLPA, arrayCGH - - cancer - M - - InSiGHT LOVDv2 ID:1013589; None - - 1 InSiGHT group
?/+ 10i_16_ c.(1661+1_1662-1)_(*279_?)del Deletion of Exon 11-16 r.spl p.? Class 5 - Unknown g.(47693948_47698103)_(47710367_?)del - Sanchez de Abajo et al., 2006 MSH2_001001 - - Germline (inherited) - - ? ? - - ? - ? - - InSiGHT LOVDv2 ID:1001620; - - - 1 Michael Woods
?/+ 10i_16_ c.(1661+1_1662-1)_(*279_?)del Deletion of Exon 11-16 r.spl p.? Class 5 - Unknown g.(47693948_47698103)_(47710367_?)del - Martinez-Bouzas et al., 2007 MSH2_001001 - - Germline (inherited) - - ? ? - - ? - ? - - InSiGHT LOVDv2 ID:1001621; - - - 1 Michael Woods
?/? 10i_16_ c.(1661+1_1662-1)_(*279_?)dup Duplication of Exon 11-16 r.spl p.? Class 3 - Unknown g.(47693948_47698103)_(47710367_?)dup - Castellvi-Bel et al., 2005 MSH2_001002 - - Germline (inherited) - - ? ? - - ? - ? - - InSiGHT LOVDv2 ID:1001622; - - - 1 Michael Woods
?/+ 11i_16_ c.(1759+1_1760-1)_(*279_?)del Deletion of Exon 12-16 r.spl p.? Class 5 - Unknown g.(47698202_47702163)_(47710367_?)del - Ainsworth et al., 2004 MSH2_001034 - - Germline (inherited) - - ? ? - - ? - ? - - InSiGHT LOVDv2 ID:1001623; - - - 1 Michael Woods
?/+ 11i_16_ c.(1759+1_1760-1)_(*279_?)del Deletion of Exon 12-16 r.spl p.? Class 5 - Unknown g.(47698202_47702163)_(47710367_?)del - Niessen et al., 2006 MSH2_001034 - - Germline (inherited) - - ? ? - - ? - ? - - InSiGHT LOVDv2 ID:1001624; - - - 1 Michael Woods
?/+ 14i_16_ c.(2458+1_2459-1)_(*279_?)del c.2459-?_(*272_?)del r.spl p.? Class 5 - Unknown g.(47705659_47707834)_(47710367_?)del - {microatt:1002731, Elke Holinski-Feder and Monika Morak} MSH2_000681 - 4x, MSI-H all 3 cases analysed, IHC MSH2+MSH6 pos. in 1 case, MSH2 loss in 2 cases, 1 Amsterdam-pos. family history, age of onset 35-44 y CC Germline (inherited) - - DNA SEQ - - ? - ? - - InSiGHT LOVDv2 ID:1015964; - - - 1 InSiGHT group
+/+ 14i_16_ c.(2458+1_2459-1)_(*279_?)del del ex15-16 r.spl p.? Class 5 - Unknown g.(47705659_47707834)_(47710367_?)del - - MSH2_000681 - - Germline (inherited) - - DNA PCR, SEQ - - CRC - ? DE - InSiGHT LOVDv2 ID:11110; - - - 1 Prof. Dr. med. Peter Propping
?/+ 14i_16_ c.(2458+1_2459-1)_(*279_?)del Deletion of Exon 15-16 r.spl p.? Class 5 - Unknown g.(47705659_47707834)_(47710367_?)del - Mangold et al., 2004 MSH2_000681 - - Germline (inherited) - - ? ? - - MRTES - ? - - InSiGHT LOVDv2 ID:1000054; - - - 1 Michael Woods
?/+ 14i_16_ c.(2458+1_2459-1)_(*279_?)del Deletion of Exon 15-16 r.spl p.? Class 5 - Unknown g.(47705659_47707834)_(47710367_?)del - Mangold et al., 2005 MSH2_000681 - - Germline (inherited) - - ? ? - - ? - ? - - InSiGHT LOVDv2 ID:1000055; - - - 1 Michael Woods
?/+ 14i_16_ c.(2458+1_2459-1)_(*279_?)del Deletion of Exon 15-16 r.spl p.? Class 5 - Unknown g.(47705659_47707834)_(47710367_?)del - Grabowski et al., 2005 MSH2_000681 - - Germline (inherited) - - ? ? - - ? - ? - - InSiGHT LOVDv2 ID:1000056; - - - 1 Michael Woods
?/+ 15i_16_ c.(2634+1_2635-1)_(*279_?)del c.2635-?_2805+?del r.spl p.? Class 5 - Unknown g.(47708011_47709917)_(47710367_?)del - {microatt:1000181, Nicola Poplawski} MSH2_000195 - - Germline (inherited) - - DNA MLPA - - cancer, endometrial - F - - InSiGHT LOVDv2 ID:1013518; Am II - - 1 InSiGHT group
?/+ 15i_16_ c.(2634+1_2635-1)_(*279_?)del Exon 16 c.2635-?_2805+?del p.Gln879_*935del r.spl p.? Class 5 - Unknown g.(47708011_47709917)_(47710367_?)del - {microatt:1002993, Desiree du Sart} MSH2_000195 - - Germline (inherited) - - DNA SEQ - - ? - ? - - InSiGHT LOVDv2 ID:1016120; Amsterdam: Positive - - 1 InSiGHT group
?/+ 15i_16_ c.(2634+1_2635-1)_(*279_?)del Exon 16 c.2635-?_2805+?del p.Gln879_*935del r.spl p.? Class 5 - Unknown g.(47708011_47709917)_(47710367_?)del - {microatt:1003132, Desiree du Sart} MSH2_000195 - - Germline (inherited) - - DNA SEQ - - ? - ? - - InSiGHT LOVDv2 ID:1016259; - - - 1 InSiGHT group
?/+ 15i_16_ c.(2634+1_2635-1)_(*279_?)del Exon 16 c.2635-?_2805+?del p.Gln879_*935del r.spl p.? Class 5 - Unknown g.(47708011_47709917)_(47710367_?)del - {microatt:1003142, Desiree du Sart} MSH2_000195 - - Germline (inherited) - - DNA SEQ - - ? - ? - - InSiGHT LOVDv2 ID:1016269; - - - 1 InSiGHT group
?/+ 15i_16_ c.(2634+1_2635-1)_(*279_?)del Deletion of Exon 16, =3.5 kb r.spl p.? Class 5 - Unknown g.(47708011_47709917)_(47710367_?)del - van der Klift et al., 2005 MSH2_000195 - - Germline (inherited) - - DNA Southern - - ? van der Klift et al., 2005 ? AU - InSiGHT LOVDv2 ID:262646; - - - 1 Juul Wijnen
?/+ 15i_16_ c.(2634+1_2635-1)_(*279_?)del Deletion of Exon 16, Authors describe this as c.2635+?_(*3084)del. r.spl p.? Class 5 - Unknown g.(47708011_47709917)_(47710367_?)del - Sheng et al., 2008 MSH2_000195 - - Germline (inherited) - - ? ? - - ? - ? - - InSiGHT LOVDv2 ID:1000036; - - - 1 Michael Woods
?/+ 3i_16_ c.(645+1_646-1)_(*279_?)del Deletion of Exon 4-16 r.spl p.? Class 5 - Unknown g.(47637512_47639552)_(47710367_?)del - Bunyan et al., 2004 MSH2_001255 - - Germline (inherited) - - ? ? - - ? - ? - - InSiGHT LOVDv2 ID:1001140; - - - 1 Michael Woods
?/+ 3i_16_ c.(645+1_646-1)_(*279_?)del Deletion of Exon 4-16 r.spl p.? Class 5 - Unknown g.(47637512_47639552)_(47710367_?)del - Woods et al., 2005 MSH2_001255 - - Germline (inherited) - - ? ? - - ? - ? - - InSiGHT LOVDv2 ID:1002600; - - - 1 Michael Woods
?/+ 3i_16_ c.(645+1_646-1)_(*279_?)del Deletion of Exon 4-16 r.spl p.? Class 5 - Unknown g.(47637512_47639552)_(47710367_?)del - Stuckless et al., 2007 MSH2_001255 - - Germline (inherited) - - ? ? - - ? - ? - - InSiGHT LOVDv2 ID:1002602; - - - 1 Michael Woods
?/+ _1_16_ c.(?_-125)_(*279_?)del del ex 1_16, >80kb r.0? p.0? Class 5 - Unknown g.(?_47630206)_(47710367_?)del - van der Klift et al., 2005 MSH2_000043 - - Germline (inherited) - - DNA Southern - - ? van der Klift et al., 2005 ? AU - InSiGHT LOVDv2 ID:8281; - - - 1 Juul Wijnen
?/+ _1_16_ c.(?_-125)_(*279_?)del del 1_16 r.0? p.0? Class 5 - Unknown g.(?_47630206)_(47710367_?)del - - MSH2_000043 - - Germline (inherited) - - DNA Southern, MLPA - - ? - ? NL - InSiGHT LOVDv2 ID:10382; - - - 1 Carli Tops
?/+ _1_16_ c.(?_-125)_(*279_?)del del MSH2 ex1_16, delTACSTD1-15,-27, del MSH6 r.0? p.0? Class 5 - Unknown g.(?_47630206)_(47710367_?)del - - MSH2_000043 - - Germline (inherited) - - DNA MLPA, MAPH - - ? - ? NL - child, mental retardation;InSiGHT LOVDv2 ID:10396; - - - 1 Carli Tops
?/+ _1_16_ c.(?_-125)_(*279_?)del del 1_16 r.0? p.0? Class 5 - Unknown g.(?_47630206)_(47710367_?)del - - MSH2_000043 - - Germline (inherited) - - DNA MLPA - - ? - ? NL - InSiGHT LOVDv2 ID:10413; - - - 1 Carli Tops
+/+ _1_16_ c.(?_-125)_(*279_?)del del ex01-16 r.0? p.0? Class 5 - Unknown g.(?_47630206)_(47710367_?)del - - MSH2_000043 - - Germline (inherited) - - DNA PCR, SEQ - - CRC - ? DE - InSiGHT LOVDv2 ID:10627; - - - 1 Prof. Dr. med. Peter Propping
+/+ _1_16_ c.(?_-125)_(*279_?)del del ex01-16 r.0? p.0? Class 5 - Unknown g.(?_47630206)_(47710367_?)del - - MSH2_000043 - - Germline (inherited) - - DNA PCR, SEQ - - CRC - ? DE - InSiGHT LOVDv2 ID:11381; - - - 1 Prof. Dr. med. Peter Propping
+/+ _1_16_ c.(?_-125)_(*279_?)del del ex01-16 r.0? p.0? Class 5 - Unknown g.(?_47630206)_(47710367_?)del - - MSH2_000043 - - Germline (inherited) - - DNA PCR, SEQ - - CRC - ? DE - InSiGHT LOVDv2 ID:11429; - - - 1 Prof. Dr. med. Peter Propping
+/+ _1_16_ c.(?_-125)_(*279_?)del - r.0? p.0? Class 5 - Unknown g.(?_47630206)_(47710367_?)del - {microatt:1000594, Maurizio Genuardi} MSH2_000043 - - Germline (inherited) - - DNA MLPA - - Lynch Syndrome - M IT Caucasian InSiGHT LOVDv2 ID:1013105; AII+ Yes Call (screening) 1 MAURIZIO GENUARDI
+/+ _1_16_ c.(?_-125)_(*279_?)del - r.0? p.0? Class 5 - Maternal (confirmed) g.(?_47630206)_(47710367_?)del - {microatt:1000595, Maurizio Genuardi} MSH2_000043 - - Germline (inherited) - - DNA MLPA - - Lynch Syndrome - M IT Caucasian InSiGHT LOVDv2 ID:1013108; AII+ Yes Unknown 1 MAURIZIO GENUARDI
?/+ _1_16_ c.(?_-125)_(*279_?)del deletion EPCAM exon 3 (c.185-?) to MSH2 exon 16 (*272_?) r.0? p.0? Class 5 - Unknown g.(?_47630206)_(47710367_?)del - {microatt:1003310, Desiree du Sart} MSH2_000043 - - Germline (inherited) - - DNA Southern - - ? - - - - InSiGHT LOVDv2 ID:1016435; - - - 1 InSiGHT group
?/+ _1_16_ c.(?_-125)_(*279_?)del Deletion exons 1-16 r.0? p.0? Class 5 - Unknown g.(?_47630206)_(47710367_?)del - - MSH2_000043 - - Unknown - - DNA MLPA - - cancer - - - - InSiGHT LOVDv2 ID:1017009; - - - 1 James Whitworth
?/+ _1_16_ c.(?_-125)_(*279_?)del Deletion of Exon 1-16 r.0? p.0? Class 5 - Unknown g.(?_47630206)_(47710367_?)del - Wang et al., 2003 MSH2_000043 - - Germline (inherited) - - ? ? - - ? - ? - - InSiGHT LOVDv2 ID:1001546; - - - 1 Michael Woods
?/+ _1_16_ c.(?_-125)_(*279_?)del Deletion of Exon 1-16 r.0? p.0? Class 5 - Unknown g.(?_47630206)_(47710367_?)del - Grabowski et al., 2005 MSH2_000043 - - Germline (inherited) - - ? ? - - ? - ? - - InSiGHT LOVDv2 ID:1001547; - - - 1 Michael Woods
?/+ _1_16_ c.(?_-125)_(*279_?)del Deletion of Exon 1-16 r.0? p.0? Class 5 - Unknown g.(?_47630206)_(47710367_?)del - Wang et al., 2002 MSH2_000043 - - Germline (inherited) - - ? ? - - ? - ? - - InSiGHT LOVDv2 ID:1001548; - - - 1 Michael Woods
?/+ _1_16_ c.(?_-125)_(*279_?)del Deletion of Exon 1-16; Identified in CCRF± HSB-2 cell line r.0? p.0? Class 5 - Unknown g.(?_47630206)_(47710367_?)del - Gu et al., 2002 MSH2_000043 - - In vitro (cloned) - - ? ? - - ? - ? - - InSiGHT LOVDv2 ID:1001549; - - - 1 Michael Woods
?/+ _1_16_ c.(?_-125)_(*279_?)del Deletion of Exon 1-16 r.0? p.0? Class 5 - Unknown g.(?_47630206)_(47710367_?)del - Mangold et al., 2005 MSH2_000043 - - Germline (inherited) - - ? ? - - ? - ? - - InSiGHT LOVDv2 ID:1001550; - - - 1 Michael Woods
?/+ _1_16_ c.(?_-125)_(*279_?)del Deletion of Exon 1-16 r.0? p.0? Class 5 - Unknown g.(?_47630206)_(47710367_?)del - van der Klift et al., 2005 MSH2_000043 - - Germline (inherited) - - ? ? - - ? - ? - - InSiGHT LOVDv2 ID:1001551; - - - 1 Michael Woods
?/+ _1_16_ c.(?_-125)_(*279_?)del Deletion of Exon 1-16 r.0? p.0? Class 5 - Unknown g.(?_47630206)_(47710367_?)del - Pastrello et al., 2006 MSH2_000043 - - Germline (inherited) - - ? ? - - ? - ? - - InSiGHT LOVDv2 ID:1001552; - - - 1 Michael Woods
?/+ _1_16_ c.(?_-125)_(*279_?)del Deletion of Exon 1-16 r.0? p.0? Class 5 - Unknown g.(?_47630206)_(47710367_?)del - Mangold et al., 2005 MSH2_000043 - - Germline (inherited) - - ? ? - - ? - ? - - InSiGHT LOVDv2 ID:1001553; - - - 1 Michael Woods
?/+ _1_16_ c.(?_-125)_(*279_?)del Deletion of Exon 1-16 r.0? p.0? Class 5 - Unknown g.(?_47630206)_(47710367_?)del - Pistorius et al., 2007 MSH2_000043 - - Germline (inherited) - - ? ? - - ? - ? - - InSiGHT LOVDv2 ID:1001554; - - - 1 Michael Woods
?/+ _1_16_ c.(?_-125)_(*279_?)del Deletion of Exon 1-16 r.0? p.0? Class 5 - Unknown g.(?_47630206)_(47710367_?)del - Pistorius et al., 2007 MSH2_000043 - - Germline (inherited) - - ? ? - - ? - ? - - InSiGHT LOVDv2 ID:1001555; - - - 1 Michael Woods
?/+ _1_16_ c.(?_-125)_(*279_?)del c.(?_-68)_(*272_?)del r.0? p.0? Class 5 - Unknown g.(?_47630206)_(47710367_?)del - {microatt:1000446, Mark Jenkins; John Hopper} MSH2_000043 - - Germline (inherited) - - DNA SEQ - - ? - ? - - InSiGHT LOVDv2 ID:1013679; 6 affected carriers - - 1 InSiGHT group
?/+ _1_16_ c.(?_-125)_(*279_?)del c.(?_-68)_(*272_?)del r.0? p.0? Class 5 - Unknown g.(?_47630206)_(47710367_?)del - {microatt:1002751, Elke Holinski-Feder and Monika Morak} MSH2_000043 - 1x male 29 y CC asc. T3 N1, MSI-H, IHC loss of MSH2 + MSH6, MLH1 positive, Bethesda-pos. Germline (inherited) - - DNA SEQ - - ? - ? - - InSiGHT LOVDv2 ID:1015984; - - - 1 InSiGHT group
?/+ _1_16_ c.(?_-125)_(*279_?)del Exon 1 to Exon 16 c.1-?_2805+?del p.Met1_*935del r.0? p.0? Class 5 - Unknown g.(?_47630206)_(47710367_?)del - {microatt:1003007, Desiree du Sart} MSH2_000043 - - Germline (inherited) - - DNA SEQ - - ? - ? - - InSiGHT LOVDv2 ID:1016134; Amsterdam: Positive - - 1 InSiGHT group
?/+ _1_16_ c.(?_-125)_(*279_?)del Exon 1 to Exon 16 c.1-?_2805+?del p.Met1_*935del r.0? p.0? Class 5 - Unknown g.(?_47630206)_(47710367_?)del - {microatt:1003044, Desiree du Sart} MSH2_000043 - - Germline (inherited) - - DNA SEQ - - ? - ? - - InSiGHT LOVDv2 ID:1016171; - - - 1 InSiGHT group
?/+ _1_16_ c.(?_-125)_(*279_?)del Exon 1 to Exon 16 c.1-?_2805+?del p.Met1_*935del r.0? p.0? Class 5 - Unknown g.(?_47630206)_(47710367_?)del - {microatt:1003102, Desiree du Sart} MSH2_000043 - - Germline (inherited) - - DNA SEQ - - ? - ? - - InSiGHT LOVDv2 ID:1016229; - - - 1 InSiGHT group
?/+ _1_6i c.(?_-125)_(1076+1_1077-1)del del ex1_6, =78 kb r.0? p.0? Class 5 - Unknown g.(?_47630206)_(47643569_47656880)del - van der Klift et al., 2005 MSH2_000235 - - Germline (inherited) - - DNA Southern - - ? van der Klift et al., 2005 ? DE - InSiGHT LOVDv2 ID:7940; - - - 1 Juul Wijnen
?/+ _1_6i c.(?_-125)_(1076+1_1077-1)del del ex1_6, >25 kb r.0? p.0? Class 5 - Unknown g.(?_47630206)_(47643569_47656880)del - van der Klift et al., 2005, Hendriks et al., 2003 MSH2_000235 - - Germline (inherited) - - DNA Southern - - ? van der Klift et al., 2005, Hendriks,Y. et al, 2003 ? NL - InSiGHT LOVDv2 ID:8095; - - - 1 Juul Wijnen
?/+ _1_6i c.(?_-125)_(1076+1_1077-1)del del ex1_6, =15 kb r.0? p.0? Class 5 - Unknown g.(?_47630206)_(47643569_47656880)del - van der Klift et al., 2005 MSH2_000235 - - Germline (inherited) - - DNA Southern - - ? van der Klift et al., 2005 ? AU - InSiGHT LOVDv2 ID:8187; - - - 1 Juul Wijnen
?/+ _1_6i c.(?_-125)_(1076+1_1077-1)del del ex1_6, =41 kb r.0? p.0? Class 5 - Unknown g.(?_47630206)_(47643569_47656880)del - van der Klift et al., 2005 MSH2_000235 - - Germline (inherited) - - DNA Southern - - ? van der Klift et al., 2005 ? NL - InSiGHT LOVDv2 ID:8909; - - - 1 Juul Wijnen
?/+ _1_6i c.(?_-125)_(1076+1_1077-1)del del ex1_6, >25 kb r.0? p.0? Class 5 - Unknown g.(?_47630206)_(47643569_47656880)del - van der Klift et al., 2005, Hendriks et al., 2003 MSH2_000235 - - Germline (inherited) - - DNA Southern, MLPA - - ? van der Klift et al., 2005, Hendriks,Y. et al, 2003 ? NL - InSiGHT LOVDv2 ID:10368; - - - 1 Juul Wijnen
?/+ _1_6i c.(?_-125)_(1076+1_1077-1)del del ex1_6, >25 kb r.0? p.0? Class 5 - Unknown g.(?_47630206)_(47643569_47656880)del - van der Klift et al., 2005 MSH2_000235 - - Germline (inherited) - - DNA Southern, MLPA - - ? van der Klift et al., 2005 ? NL - InSiGHT LOVDv2 ID:10369; - - - 1 Juul Wijnen
+/+ _1_6i c.(?_-125)_(1076+1_1077-1)del del ex01-06 r.0? p.0? Class 5 - Unknown g.(?_47630206)_(47643569_47656880)del - - MSH2_000235 - - Germline (inherited) - - DNA PCR, SEQ - - CRC - ? DE - InSiGHT LOVDv2 ID:10745; - - - 1 Prof. Dr. med. Peter Propping
+/+ _1_6i c.(?_-125)_(1076+1_1077-1)del del ex01-06 r.0? p.0? Class 5 - Unknown g.(?_47630206)_(47643569_47656880)del - - MSH2_000235 - - Germline (inherited) - - DNA PCR, SEQ - - CRC - ? DE - InSiGHT LOVDv2 ID:10774; - - - 1 Prof. Dr. med. Peter Propping
+/+ _1_6i c.(?_-125)_(1076+1_1077-1)del del ex01-06 r.0? p.0? Class 5 - Unknown g.(?_47630206)_(47643569_47656880)del - - MSH2_000235 - - Germline (inherited) - - DNA PCR, SEQ - - CRC - ? DE - InSiGHT LOVDv2 ID:11097; - - - 1 Prof. Dr. med. Peter Propping
+/+ _1_6i c.(?_-125)_(1076+1_1077-1)del del ex01-06 r.0? p.0? Class 5 - Unknown g.(?_47630206)_(47643569_47656880)del - - MSH2_000235 - - Germline (inherited) - - DNA PCR, SEQ - - CRC - ? DE - InSiGHT LOVDv2 ID:11291; - - - 1 Prof. Dr. med. Peter Propping
+/+ _1_6i c.(?_-125)_(1076+1_1077-1)del ex01_ex06del r.0? p.0? Class 5 - Parent #1 g.(?_47630206)_(47643569_47656880)del - - MSH2_000235 - - Germline (inherited) - - DNA SEQ - - Lynch Syndrome - ? DE - InSiGHT LOVDv2 ID:12665; - - - 1 Beate Dr. Betz
+/+ _1_6i c.(?_-125)_(1076+1_1077-1)del - r.0? p.0? Class 5 - Parent #1 g.(?_47630206)_(47643569_47656880)del - van der Klift et al., 2005 MSH2_000235 - - Germline (inherited) - - DNA SEQ - - ? - ? NL - InSiGHT LOVDv2 ID:12341; A+ - - 1 InSiGHT group
+/+ _1_6i c.(?_-125)_(1076+1_1077-1)del ex1-6del r.0? p.0? Class 5 - Parent #1 g.(?_47630206)_(47643569_47656880)del - van der Klift et al., 2005 MSH2_000235 - - Germline (inherited) - - DNA SEQ - - ? - ? NL - InSiGHT LOVDv2 ID:12387; A? - - 1 InSiGHT group
+/+ _1_6i c.(?_-125)_(1076+1_1077-1)del - r.0? p.0? Class 5 - Parent #1 g.(?_47630206)_(47643569_47656880)del - van der Klift et al., 2005 MSH2_000235 - - Germline (inherited) - - DNA SEQ - - ? - ? NL - InSiGHT LOVDv2 ID:262691; A+ - - 1 InSiGHT group
?/+ _1_6i c.(?_-125)_(1076+1_1077-1)del c.(?_-68)_1076+?del r.0? p.0? Class 5 - Unknown g.(?_47630206)_(47643569_47656880)del - {microatt:1000627, Leung et al, Department of Pathology, The University of Hong Kong, Queen Mary Hospital, Pokfulam, Hong Kong, unpublished data} MSH2_000235 - - Germline (inherited) - - DNA SEQ, MLPA - - CRC - M - - InSiGHT LOVDv2 ID:1013860; Bethesda III - - 1 InSiGHT group
?/+ _1_6i c.(?_-125)_(1076+1_1077-1)del c.(?_-68)_1076+?del r.0? p.0? Class 5 - Unknown g.(?_47630206)_(47643569_47656880)del - {microatt:1002736, Elke Holinski-Feder and Monika Morak} MSH2_000235 - 2x: female 49 y C18.0, 47 y C.66 Ureterca, CC MSI-H, IHC loss of MSH2 + MSH6, MLH1 and PMS2 positive, male: 51 y syncr. CC caecum and transversum, no MSA or IHC, Bethesda-pos. Germline (inherited) - - DNA SEQ - - ? - - - - InSiGHT LOVDv2 ID:1015969; - - - 1 InSiGHT group
?/+ _1_6i c.(?_-125)_(1076+1_1077-1)del Exon 1 to Exon 6 c.1-?_1076+?del p.Met1Ilefs*29 (reported as p.Met1?) r.0? p.0? Class 5 - Unknown g.(?_47630206)_(47643569_47656880)del - {microatt:1003008, Desiree du Sart} MSH2_000235 - - Germline (inherited) - - DNA SEQ - - ? - - - - InSiGHT LOVDv2 ID:1016135; Amsterdam: Positive - - 1 InSiGHT group
?/+ _1_6i c.(?_-125)_(1076+1_1077-1)del Exon 1 to Exon 6 c.1-?_1076+?del p.Met1Ilefs*29 (reported as p.Met1?) r.0? p.0? Class 5 - Unknown g.(?_47630206)_(47643569_47656880)del - {microatt:1003078, Desiree du Sart} MSH2_000235 - - Germline (inherited) - - DNA SEQ - - CRC - - - - InSiGHT LOVDv2 ID:1016205; Amsterdam: Positive - - 1 InSiGHT group
?/+ _1_6i c.(?_-125)_(1076+1_1077-1)del Exon 1 to Exon 6 c.1-?_1076+?del p.Met1Ilefs*29 (reported as p.Met1?) r.0? p.0? Class 5 - Unknown g.(?_47630206)_(47643569_47656880)del - {microatt:1003084, Desiree du Sart} MSH2_000235 - - Germline (inherited) - - DNA SEQ - - ? - - - - InSiGHT LOVDv2 ID:1016211; - - - 1 InSiGHT group
?/+ _1_6i c.(?_-125)_(1076+1_1077-1)del Exon 1 to Exon 6 c.1-?_1076+?del p.Met1Ilefs*29 (reported as p.Met1?) r.0? p.0? Class 5 - Unknown g.(?_47630206)_(47643569_47656880)del - {microatt:1003194, Desiree du Sart} MSH2_000235 - - Germline (inherited) - - DNA SEQ - - ? - - - - InSiGHT LOVDv2 ID:1016321; - - - 1 InSiGHT group
?/+ _1_6i c.(?_-125)_(1076+1_1077-1)del Exon 1 to Exon 6 c.1-?_1076+?del p.Met1Ilefs*29 (reported as p.Met1?) r.0? p.0? Class 5 - Unknown g.(?_47630206)_(47643569_47656880)del - {microatt:1003291, Desiree du Sart} MSH2_000235 - - Germline (inherited) - - DNA SEQ - - ? - - - - InSiGHT LOVDv2 ID:1016416; - - - 1 InSiGHT group
?/+ _1_6i c.(?_-125)_(1076+1_1077-1)del MSH2:c.1-?_1076+?del r.0? p.0? Class 5 - Unknown g.(?_47630206)_(47643569_47656880)del - {microatt:1003355, Ian Frayling, Treena Cranston} MSH2_000235 - - Germline (inherited) - - DNA SEQ - - ? - - - - InSiGHT LOVDv2 ID:1016479; - - - 1 InSiGHT group
?/+ _1_6i c.(?_-125)_(1076+1_1077-1)del MSH2:c.1-?_1076+?del r.0? p.0? Class 5 - Unknown g.(?_47630206)_(47643569_47656880)del - {microatt:1003356, Ian Frayling, Treena Cranston} MSH2_000235 - - Germline (inherited) - - DNA SEQ - - ? - - - - InSiGHT LOVDv2 ID:1016480; - - - 1 InSiGHT group
?/+ _1_6i c.(?_-125)_(1076+1_1077-1)del MSH2:c.1-?_1076+?del r.0? p.0? Class 5 - Unknown g.(?_47630206)_(47643569_47656880)del - {microatt:1003357, Ian Frayling - Cardiff} MSH2_000235 - - Germline (inherited) - - DNA SEQ - - ? - - - - InSiGHT LOVDv2 ID:1016481; 7 affected carriers - - 1 InSiGHT group
?/+ _1_6i c.(?_-125)_(1076+1_1077-1)del deletion exon 1-6 r.0? p.0? Class 5 - Unknown g.(?_47630206)_(47643569_47656880)del - {microatt:1002804, Gabriel Capellá} MSH2_000235 - Nº affected carriers / family:1 Germline (inherited) - - DNA SEQ - - ? - - - - InSiGHT LOVDv2 ID:1016796; Original Bethesda - - 1 InSiGHT group
?/+ _1_6i c.(?_-125)_(1076+1_1077-1)del deletion EPCAM exon 9 (c.904-?) to MSH2 exon 6 (c.1076+?) r.0? p.0? Class 5 - Unknown g.(?_47630206)_(47643569_47656880)del - {microatt:1003315, Desiree du Sart} MSH2_000235 - - Germline (inherited) - - DNA SEQ - - ? - - - - InSiGHT LOVDv2 ID:1016440; - - - 1 InSiGHT group
?/+ _1_6i c.(?_-125)_(1076+1_1077-1)del - r.0? p.0? Class 5 - Parent #1 g.(?_47630206)_(47643569_47656880)del - Overbeek et al., 2007; Kets et al., 2009 MSH2_000235 - Authors describe this variant as generating an MSH2 product due the MSH2 staining (although staining was weak) present by immunohistochemistry. Identified in a sib pair with numerous Lynch syndrome cancers in their 30s and 40s. Germline (inherited) - - ? ? - - Lynch Syndrome - ? - - InSiGHT LOVDv2 ID:50; - - - 1 Michael Woods
?/+ _1_6i c.(?_-125)_(1076+1_1077-1)del Deletion of Exon 1-6 r.0? p.0? Class 5 - Parent #2 g.(?_47630206)_(47643569_47656880)del - de Vos et al., 2005 MSH2_000235 - - Germline (inherited) - - ? ? - - ? - ? - - InSiGHT LOVDv2 ID:2; - - - 1 Michael Woods
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