Full data view for gene PMS2

Information The variants shown are described using the NM_000535.5 transcript reference sequence.

1264 entries on 13 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     
?/? 10 c.1004A>T - r.(?) p.(Asn335Ile) - - Unknown g.6029571T>A - Haraldsdottir et al. Accepted into Nature Communications PMS2_000021 0.03 Carrier frequency in Iceland (%): 0.03; Odds ratio for CRC (95%CI): 1.38 (0.24-7.97) 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
?/? 1 c.11C>G - r.(?) p.(Ala4Gly) - - Unknown g.6048640G>C - Haraldsdottir et al. Accepted into Nature Communications PMS2_000018 0.04 Carrier frequency in Iceland (%): 0.04; Odds ratio for CRC (95%CI): 2.64 (0.62-11.2) 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
?/? 11 c.1437C>G - r.(?) p.(His479Gln) Class 3 - Unknown g.6026959G>C - Haraldsdottir et al. Accepted into Nature Communications PMS2_000063 0.3 Carrier frequency in Iceland (%): 0.3; Odds ratio for CRC (95%CI): 1.12 (0.58-2.15) 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
?/? 11 c.1450C>A - r.(?) p.(Pro484Thr) - - Unknown g.6026946G>T - Haraldsdottir et al. Accepted into Nature Communications PMS2_000022 0.04 Carrier frequency in Iceland (%): 0.04; Odds ratio for CRC (95%CI): 0.02 (0-4.18) 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
?/? 11 c.1552G>A - r.(?) p.(Glu518Lys) - - Unknown g.6026844C>T - Haraldsdottir et al. Accepted into Nature Communications PMS2_000023 0.33 Carrier frequency in Iceland (%): 0.33; Odds ratio for CRC (95%CI): 1.62 (0.95-2.77) 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
?/? 11 c.1981G>A - r.(?) p.(Glu661Lys) - - Unknown g.6026415C>T - Haraldsdottir et al. Accepted into Nature Communications PMS2_000024 0.29 Carrier frequency in Iceland (%): 0.29; Odds ratio for CRC (95%CI): 1.04 (0.52-2.06) 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
?/? 12 c.2113G>A - r.(?) p.(Glu705Lys) Class 3 - Unknown g.6022516C>T - Haraldsdottir et al. Accepted into Nature Communications PMS2_000135 - Found in 1 patient Germline (inherited) - 2015-01-01 ? SEQ - WGS CRC Haraldsdottir et al. Accepted into Nature Communications M Iceland - - Bethesda+, Amsterdam neg - CRC diagnosed 2000-2009 1 Sigurdis Haraldsdottir
?/? 3 c.211_214del - r.(?) p.(Asn71Aspfs*4) - - Unknown g.6043639_6043642del - Haraldsdottir et al. Accepted into Nature Communications PMS2_000312 - Found in 1 patient Germline (inherited) - 2015-01-01 ? SEQ - WGS CRC Haraldsdottir et al. Accepted into Nature Communications M Iceland - - Bethesda neg, Ams neg - CRC diagnosed 2000-2009 1 Sigurdis Haraldsdottir
?/? 1 c.2T>A - r.(?) p.0? - - Unknown g.6048649A>T - Haraldsdottir et al. Accepted into Nature Communications PMS2_000017 - Founder mutation; Carrier frequency in Iceland: 0.092% - odds ratio for colorectal cancer 2.2 (0.94-5.3); endometrial cancer 7.5 (2.4-23.5); ovarian cancer 6.6 (1.8-24.3) Germline (inherited) - 2015-01-01 ? SEQ - Imputation of 31.6 million variants based on WGS of 8,453 Icelanders CRC Haraldsdottir et al. Accepted into Nature Communications - Iceland - - - - Variant found in population - 3 individuals with variant and cancer had tumor testing 1 Sigurdis Haraldsdottir
?/? 1 c.2T>A - r.(?) p.Met1? - - Unknown g.6048649A>T - Haraldsdottir et al. Accepted into Nature Communications PMS2_000017 - Founder mutation; Carrier frequency in Iceland: 0.092% - odds ratio for colorectal cancer 2.2 (0.94-5.3); endometrial cancer 7.5 (2.4-23.5); ovarian cancer 6.6 (1.8-24.3) Germline (inherited) - 2015-01-01 ? SEQ - Imputation of 31.6 million variants based on WGS of 8,453 Icelanders CRC Haraldsdottir et al. Accepted into Nature Communications - Iceland - - - - - 1 Sigurdis Haraldsdottir
?/? 1 c.2T>A - r.(?) p.Met1? - - Unknown g.6048649A>T - Haraldsdottir et al. Accepted into Nature Communications PMS2_000017 - Founder mutation; Carrier frequency in Iceland: 0.092% - odds ratio for colorectal cancer 2.2 (0.94-5.3); endometrial cancer 7.5 (2.4-23.5); ovarian cancer 6.6 (1.8-24.3) Germline (inherited) - 2015-01-01 ? SEQ - Imputation of 31.6 million variants based on WGS of 8,453 Icelanders CRC Haraldsdottir et al. Accepted into Nature Communications - Iceland - - - - - 1 Sigurdis Haraldsdottir
?/? 5 c.475G>A - r.(?) p.(Val159Met) - - Unknown g.6042146C>T - Haraldsdottir et al. Accepted into Nature Communications PMS2_000019 0.05 Carrier frequency in Iceland (%): 0.05; Odds ratio for CRC (95%CI): 0.96 (0.15-6.31) 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
?/-? 2 c.52A>G - r.(?) p.(Ile18Val) Class 2 - Unknown g.6045634T>C - Haraldsdottir et al. Accepted into Nature Communications PMS2_000009 1.73 Carrier frequency in Iceland (%): 1.73; Odds ratio for CRC (95%CI): 0.9 (0.67-1.21) 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
+/? 7 c.736_741delinsTGTGTGTGAAG - r.(?) p.(Pro246Cysfs*3) - - Unknown g.6037019_6037024delinsCTTCACACACA - Haraldsdottir et al. Accepted into Nature Communications PMS2_000187 - Founder mutation; Carrier frequency in Iceland: 0.234% - odds ratio for colorectal cancer 3.6 (2.2-5.9); endometrial cancer 9.9 (4.9-19.8); ovarian cancer 3.9 (1.3-11.9) Germline (inherited) - 2015-01-01 ? SEQ - Imputation of 31.6 million variants based on WGS of 8,453 Icelanders - variant confirmed by genotyping CRC Haraldsdottir et al. Accepted into Nature Communications F Iceland - - Bethesda+, Amsterdam neg - CRC diagnosed 2000-2009 1 Sigurdis Haraldsdottir
+/? 7 c.736_741delinsTGTGTGTGAAG - r.(?) p.Pro246Cysfs*3 - - Unknown g.6037019_6037024delinsCTTCACACACA - Haraldsdottir et al. Accepted into Nature Communications PMS2_000187 - Founder mutation; Carrier frequency in Iceland: 0.234% - odds ratio for colorectal cancer 3.6 (2.2-5.9); endometrial cancer 9.9 (4.9-19.8); ovarian cancer 3.9 (1.3-11.9) Germline (inherited) - 2015-01-01 ? SEQ - WGS CRC Haraldsdottir et al. Accepted into Nature Communications F Iceland - - Bethesda+, Amsterdam neg - CRC diagnosed 2000-2009 1 Sigurdis Haraldsdottir
+/? 7 c.736_741delinsTGTGTGTGAAG - r.(?) p.Pro246Cysfs*3 - - Unknown g.6037019_6037024delinsCTTCACACACA - Haraldsdottir et al. Accepted into Nature Communications PMS2_000187 - Founder mutation; Carrier frequency in Iceland: 0.234% - odds ratio for colorectal cancer 3.6 (2.2-5.9); endometrial cancer 9.9 (4.9-19.8); ovarian cancer 3.9 (1.3-11.9) Germline (inherited) - 2015-01-01 ? SEQ - Imputation of 31.6 million variants based on WGS of 8,453 Icelanders - variant confirmed by genotyping CRC Haraldsdottir et al. Accepted into Nature Communications M Iceland - - Bethesda+, Amsterdam neg - CRC diagnosed 2000-2009 1 Sigurdis Haraldsdottir
+/? 7 c.736_741delinsTGTGTGTGAAG - r.(?) p.Pro246Cysfs*3 - - Unknown g.6037019_6037024delinsCTTCACACACA - Haraldsdottir et al. Accepted into Nature Communications PMS2_000187 - Founder mutation; Carrier frequency in Iceland: 0.234% - odds ratio for colorectal cancer 3.6 (2.2-5.9); endometrial cancer 9.9 (4.9-19.8); ovarian cancer 3.9 (1.3-11.9) Germline (inherited) - 2015-01-01 ? SEQ - Imputation of 31.6 million variants based on WGS of 8,453 Icelanders - variant confirmed by genotyping CRC Haraldsdottir et al. Accepted into Nature Communications M Iceland - - Bethesda neg, Ams neg - CRC diagnosed 2000-2009 1 Sigurdis Haraldsdottir
+/? 7 c.736_741delinsTGTGTGTGAAG - r.(?) p.Pro246Cysfs*3 - - Unknown g.6037019_6037024delinsCTTCACACACA - Haraldsdottir et al. Accepted into Nature Communications PMS2_000187 - Founder mutation; Carrier frequency in Iceland: 0.234% - odds ratio for colorectal cancer 3.6 (2.2-5.9); endometrial cancer 9.9 (4.9-19.8); ovarian cancer 3.9 (1.3-11.9) Germline (inherited) - 2015-01-01 ? SEQ - WGS CRC Haraldsdottir et al. Accepted into Nature Communications M Iceland - - Bethesda+, Amsterdam neg - CRC diagnosed 2000-2009 1 Sigurdis Haraldsdottir
+/? 7 c.736_741delinsTGTGTGTGAAG - r.(?) p.Pro246Cysfs*3 - - Unknown g.6037019_6037024delinsCTTCACACACA - Haraldsdottir et al. Accepted into Nature Communications PMS2_000187 - Founder mutation; Carrier frequency in Iceland: 0.234% - odds ratio for colorectal cancer 3.6 (2.2-5.9); endometrial cancer 9.9 (4.9-19.8); ovarian cancer 3.9 (1.3-11.9) Germline (inherited) - 2015-01-01 ? SEQ - Imputation of 31.6 million variants based on WGS of 8,453 Icelanders - variant confirmed by genotyping CRC Haraldsdottir et al. Accepted into Nature Communications M Iceland - - Bethesda+, Amsterdam+ - CRC diagnosed 2000-2009 1 Sigurdis Haraldsdottir
+/? 7 c.736_741delinsTGTGTGTGAAG - r.(?) p.Pro246Cysfs*3 - - Unknown g.6037019_6037024delinsCTTCACACACA - Haraldsdottir et al. Accepted into Nature Communications PMS2_000187 - Founder mutation; Carrier frequency in Iceland: 0.234% - odds ratio for colorectal cancer 3.6 (2.2-5.9); endometrial cancer 9.9 (4.9-19.8); ovarian cancer 3.9 (1.3-11.9) Germline (inherited) - 2015-01-01 ? SEQ - Imputation of 31.6 million variants based on WGS of 8,453 Icelanders - variant confirmed by genotyping CRC Haraldsdottir et al. Accepted into Nature Communications M Iceland - - Bethesda neg, Ams neg - CRC diagnosed 2000-2009 1 Sigurdis Haraldsdottir
+/? 7 c.736_741delinsTGTGTGTGAAG - r.(?) p.Pro246Cysfs*3 - - Unknown g.6037019_6037024delinsCTTCACACACA - Haraldsdottir et al. Accepted into Nature Communications PMS2_000187 - Founder mutation; Carrier frequency in Iceland: 0.234% - odds ratio for colorectal cancer 3.6 (2.2-5.9); endometrial cancer 9.9 (4.9-19.8); ovarian cancer 3.9 (1.3-11.9) Germline (inherited) - 2015-01-01 ? SEQ - Imputation of 31.6 million variants based on WGS of 8,453 Icelanders - variant confirmed by genotyping CRC Haraldsdottir et al. Accepted into Nature Communications M Iceland - - Bethesda+, Amsterdam+ - CRC diagnosed 2000-2009 1 Sigurdis Haraldsdottir
+/? 7 c.736_741delinsTGTGTGTGAAG - r.(?) p.Pro246Cysfs*3 - - Unknown g.6037019_6037024delinsCTTCACACACA - Haraldsdottir et al. Accepted into Nature Communications PMS2_000187 - Founder mutation; Carrier frequency in Iceland: 0.234% - odds ratio for colorectal cancer 3.6 (2.2-5.9); endometrial cancer 9.9 (4.9-19.8); ovarian cancer 3.9 (1.3-11.9) Germline (inherited) - 2015-01-01 ? SEQ - Imputation of 31.6 million variants based on WGS of 8,453 Icelanders - variant confirmed by genotyping CRC Haraldsdottir et al. Accepted into Nature Communications M Iceland - - Bethesda+, Amsterdam neg - CRC diagnosed 2000-2009 1 Sigurdis Haraldsdottir
+/? 7 c.736_741delinsTGTGTGTGAAG - r.(?) p.Pro246Cysfs*3 - - Unknown g.6037019_6037024delinsCTTCACACACA - Haraldsdottir et al. Accepted into Nature Communications PMS2_000187 - Founder mutation; Carrier frequency in Iceland: 0.234% - odds ratio for colorectal cancer 3.6 (2.2-5.9); endometrial cancer 9.9 (4.9-19.8); ovarian cancer 3.9 (1.3-11.9) Germline (inherited) - 2015-01-01 ? SEQ - Imputation of 31.6 million variants based on WGS of 8,453 Icelanders - variant confirmed by genotyping CRC Haraldsdottir et al. Accepted into Nature Communications M Iceland - - Bethesda+, Amsterdam neg - CRC diagnosed 2000-2009 1 Sigurdis Haraldsdottir
+/? 7 c.736_741delinsTGTGTGTGAAG - r.(?) p.Pro246Cysfs*3 - - Unknown g.6037019_6037024delinsCTTCACACACA - Haraldsdottir et al. Accepted into Nature Communications PMS2_000187 - Founder mutation; Carrier frequency in Iceland: 0.234% - odds ratio for colorectal cancer 3.6 (2.2-5.9); endometrial cancer 9.9 (4.9-19.8); ovarian cancer 3.9 (1.3-11.9) Germline (inherited) - 2015-01-01 ? SEQ - Imputation of 31.6 million variants based on WGS of 8,453 Icelanders - variant confirmed by genotyping CRC Haraldsdottir et al. Accepted into Nature Communications M Iceland - - Bethesda+, Amsterdam neg - CRC diagnosed 2000-2009 1 Sigurdis Haraldsdottir
+/? 7 c.736_741delinsTGTGTGTGAAG - r.(?) p.Pro246Cysfs*3 - - Unknown g.6037019_6037024delinsCTTCACACACA - Haraldsdottir et al. Accepted into Nature Communications PMS2_000187 - Founder mutation; Carrier frequency in Iceland: 0.234% - odds ratio for colorectal cancer 3.6 (2.2-5.9); endometrial cancer 9.9 (4.9-19.8); ovarian cancer 3.9 (1.3-11.9) Germline (inherited) - 2015-01-01 ? SEQ - Imputation of 31.6 million variants based on WGS of 8,453 Icelanders - variant confirmed by genotyping CRC Haraldsdottir et al. Accepted into Nature Communications M Iceland - - Bethesda neg, Ams neg - CRC diagnosed 2000-2009 1 Sigurdis Haraldsdottir
?/? 8 c.898G>C - r.(?) p.(Ala300Pro) - - Unknown g.6035170C>G - Haraldsdottir et al. Accepted into Nature Communications PMS2_000020 0.03 Carrier frequency in Iceland (%): 0.03; Odds ratio for CRC (95%CI): 0.02 (0-8.04) 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
+/. - c.(1144+1_1145 -1)_(2006+1_2007-1)dup duplication exons 11-12 r.(?) p.? - - Unknown g.6026390-?_6027251+?dup - ""Optimization of the diagnosis of inherited colorectal cancer using NGS and capture of exonic and intronic sequences of panel genes"", accepted for publication chr7_000029 - - Germline (inherited) - - DNA ? - - other ""Optimization of the diagnosis of inherited colorectal cancer using NGS and capture of exonic and intronic sequences of panel genes"", accepted for publication - France - - - - - 1 Stephanie Baert-Desurmont
?/? 10i_15_ c.(1144+1_1145-1)_(*160_?)del c.1145-?_2589+?del r.(?) p.Gly382_X863del N/A - Unknown g.(?_6012870)_(6027252_6029430)del - {microatt:1002690, Carli Tops} PMS2_000270 - del ex 11_15, 36116 nt Germline (inherited) - - DNA SEQ - - ? - ? - - InSiGHT LOVDv2 ID:1015923; AMS2 - - 1 InSiGHT group
?/? 10i_15_ c.(1144+1_1145-1)_(*160_?)del c.1145-?_2589+?del r.(?) p.Gly382_X863del N/A - Unknown g.(?_6012870)_(6027252_6029430)del - {microatt:1002691, Carli Tops} PMS2_000270 - - Germline (inherited) - - DNA SEQ - - ? - ? - - InSiGHT LOVDv2 ID:1015924; - - - 1 InSiGHT group
?/? 10i_15_ c.(1144+1_1145-1)_(*160_?)del c.1145-?_2589+?del r.(?) p.Gly382_X863del N/A - Unknown g.(?_6012870)_(6027252_6029430)del - {microatt:1002692, Carli Tops} PMS2_000270 - - Germline (inherited) - - DNA SEQ - - ? - ? - - InSiGHT LOVDv2 ID:1015925; - - - 1 InSiGHT group
?/? 10i_15_ c.(1144+1_1145-1)_(*160_?)del c.1145-?_2589+?del r.(?) p.Gly382_X863del N/A - Unknown g.(?_6012870)_(6027252_6029430)del - {microatt:1002693, Carli Tops} PMS2_000270 - - Germline (inherited) - - DNA SEQ - - ? - ? - - InSiGHT LOVDv2 ID:1015926; - - - 1 InSiGHT group
+/+ 4i_15_ c.(353+1_354-1)_(*160_?)del del ex (3-)5-15 r.(?) p.? Class 5 - Unknown g.(?_6012870)_(6042268_6043320)del - van der Klift et al., 2010 PMS2_000209 - exon 3 and 4 not in MLPA - could be in the deletion Germline (inherited) - - DNA MLPA - - CRC - M NL - InSiGHT LOVDv2 ID:1011010; - - Colorectal symptoms 1 Carli Tops
+/? 5i_6i c.(537+1_538-1)_(705+1_706-1) - r.? p? - - Unknown g.(6037055_6038738)_(6038907_6042083)del - - PMS2_000293 - - Germline (inherited) - - DNA MLPA - - cancer, endometrial - F ES - InSiGHT LOVDv2 ID:1017147; B+ - - 1 José Luis Soto
?/+ 8i_15_ c.(903+1_904-1)_(*160_?)del - r.(?) p.? Class 5 - Parent #1 g.(?_6012870)_(6031689_6035164)del - Will et al., 2007 PMS2_000197 - severe colorectal cancer, multiple adenomas along with mental retardation, dysmorphic features and cafe-au-lait spots. This deletion involves exons 9-15 of PMS2 and coding regions of genes oncomodulin, TRIAD3 and FSCN1. Germline (inherited) - - DNA ? - - CRC - ? - - InSiGHT LOVDv2 ID:12763; - - - 1 Michael Woods
?/+ 8i_15_ c.(903+1_904-1)_(*160_?)del - r.(?) p.? Class 5 - Parent #2 g.(?_6012870)_(6031689_6035164)del - Will et al., 2007 PMS2_000197 - severe colorectal cancer, multiple adenomas along with mental retardation, dysmorphic features and cafe-au-lait spots. This deletion involves exons 9-15 of PMS2 and coding regions of genes oncomodulin, TRIAD3 and FSCN1. Germline (inherited) - - DNA ? - - CRC - ? - - InSiGHT LOVDv2 ID:12763; - - - 1 Michael Woods
?/+ 8i_15_ c.(903+1_904-1)_(*160_?)del - r.(?) p.? Class 5 - Unknown g.(?_6012870)_(6031689_6035164)del - Will et al., 2007 PMS2_000197 - This deletion involves exons 9-15 of PMS2 (g.(?_5,597,458)_(5,998,620_?)del), as well as the coding regions of genes oncomodulin, TRIAD3 and FSCN1. Germline (inherited) - - DNA ? - - ? - ? - - InSiGHT LOVDv2 ID:12994; - - - 1 Michael Woods
?/+ 9i_15_ c.(988+1_989-1)_(*160_?)del - r.(?) p.? Class 5 - Unknown g.(?_6012870)_(6029587_6031603)del - Borras et al., 2013 PMS2_000248 - - Germline (inherited) - - DNA MLPA - - cancer - ? - - InSiGHT LOVDv2 ID:1013046; - - - 1 Gabriel Capellá
+/+ _1_15_ c.(?_-87)_(*160_?)del del ex1_15 r.(?) p.? Class 5 - Unknown g.(?_6012870)_(6048737_?)del - van der Klift et al., 2005, Hendriks et al., 2006 PMS2_000007 - - Germline (inherited) - - DNA Southern - - CRC - ? NL - InSiGHT LOVDv2 ID:4940; - - - 1 Juul Wijnen
?/+ _1_15_ c.(?_-87)_(*160_?)del Deletion of Exon 1-15 r.(?) p.? Class 5 - Parent #1 g.(?_6012870)_(6048737_?)del - Senter et al., 2008; Tomsic et al., 2012 PMS2_000007 - - Germline (inherited) - - DNA ? - - ? - ? - - InSiGHT LOVDv2 ID:12802; - - - 1 Michael Woods
?/+ _1_15_ c.(?_-87)_(*160_?)del Deletion of Exon 1-15 r.(?) p.? Class 5 - Unknown g.(?_6012870)_(6048737_?)del - Senter et al., 2008; Tomsic et al., 2012 PMS2_000007 - - Germline (inherited) - - DNA ? - - ? - ? - - InSiGHT LOVDv2 ID:12812; - - - 1 Michael Woods
?/+ _1_15_ c.(?_-87)_(*160_?)del deletion of Exon1-15 and duplication of 3' related gene (c.1-?_2589?del). r.(?) p.? Class 5 - Unknown g.(?_6012870)_(6048737_?)del - Hendriks et al., 2006 PMS2_000007 - - Germline (inherited) - - DNA ? - - ? - ? - - InSiGHT LOVDv2 ID:12813; - - - 1 Michael Woods
?/+ _1_15_ c.(?_-87)_(*160_?)del Deletion of PMS2 r.(?) p.? Class 5 - Unknown g.(?_6012870)_(6048737_?)del - Overbeek et al., 2007; Tomsic et al., 2012 PMS2_000007 - - Germline (inherited) - - DNA ? - - ? - ? - - InSiGHT LOVDv2 ID:12814; - - - 1 Michael Woods
+/+ _1_15_ c.(?_-87)_(*160_?)del del ex 1-15, dupPMS2CL r.(?) p.? Class 5 - Unknown g.(?_6012870)_(6048737_?)del - van der Klift et al., 2010 PMS2_000007 - - Germline (inherited) - - DNA MLPA, Southern - - CRC - F NL - InSiGHT LOVDv2 ID:1011007; - - Colorectal symptoms 1 Carli Tops
?/+ _1_15_ c.(?_-87)_(*160_?)del PMS2 exon 1-15 del r.(?) p.? Class 5 - Unknown g.(?_6012870)_(6048737_?)del - Thompson et al., 2013; Tomsic et al., 2012; Senter et al., 2008 PMS2_000007 - - Germline (inherited) - - DNA SEQ - - ? - - - - InSiGHT LOVDv2 ID:1012967; - - - 1 Mark Jenkins
?/+ _1_15_ c.(?_-87)_(*160_?)del MLH1:c.198C>T; PMS2:c.(?_-87)_(*160_?)del r.(?) p.? Class 5 - Unknown g.(?_6012870)_(6048737_?)del - {microatt:1003407, Mark Jenkins} PMS2_000007 - - Germline (inherited) - - DNA ? - - ? - - - - InSiGHT LOVDv2 ID:1016531; - - - 1 InSiGHT group
+/+ - c.(?_-87)_(*160_?)del c.1-?_2586+?del Whole gene deletion r.(?) p.? Class 5 - Unknown g.6012870_6048737del - Lagerstedt-Robinson et al. 2016 chr7_000018 - - Germline (inherited) - - DNA ? - - Lynch Syndrome Lagerstedt-Robinson et al. 2016 - Sweden - - - - - 1 Kristina Lagerstedt Robinson
+/+ _1_10i c.(?_-87)_(1144+1_1145-1)del del ex01-10 r.(?) p.? Class 5 - Unknown g.(6027252_6029430)_(6048737_?)del - - PMS2_000179 - - Germline (inherited) - - DNA PCR, SEQ - - CRC - ? DE - InSiGHT LOVDv2 ID:10856; - - - 1 Prof. Dr. med. Peter Propping
+/+ _1_10i c.(?_-87)_(1144+1_1145-1)del ex01_ex10del r.(?) p.? Class 5 - Parent #1 g.(6027252_6029430)_(6048737_?)del - - PMS2_000179 - - Germline (inherited) - - DNA SEQ - - Lynch Syndrome - ? DE - InSiGHT LOVDv2 ID:12714; - - - 1 Beate Dr. Betz
?/+ 1 c.(?_-87)_(23+1_24-1)del Deletion of Exon 1 r.(?) p.? Class 5 - Unknown g.(6045663_6048627)_(6048737_?)del - Senter et al., 2008 PMS2_000044 - - Germline (inherited) - - DNA ? - - ? - ? - - InSiGHT LOVDv2 ID:12815; - - - 1 Michael Woods
?/- 15 c.*17G>C 1621G>A (E541K) r.(=) p.(=) Class 1 - Unknown g.6013013C>G - Clendenning et al., 2006 PMS2_000042 - - Germline (inherited) - - DNA ? - - ? - ? - - InSiGHT LOVDv2 ID:12750; - - - 1 Michael Woods
?/- 15 c.*17G>C - r.(=) p.(=) Class 1 - Unknown g.6013013C>G - Clendenning et al., 2006 PMS2_000042 - - Germline (inherited) - - DNA ? - - ? - ? - - InSiGHT LOVDv2 ID:12751; - - - 1 Michael Woods
?/- 15 c.*17G>C - r.(=) p.(=) Class 1 - Unknown g.6013013C>G - Clendenning et al., 2006 PMS2_000042 - - Germline (inherited) - - DNA ? - - cancer, endometrial - ? - - InSiGHT LOVDv2 ID:12752; - - - 1 Michael Woods
?/- 15 c.*17G>C - r.(=) p.(=) Class 1 - Unknown g.6013013C>G - Clendenning et al., 2006 PMS2_000042 - - Germline (inherited) - - DNA ? - - ? - ? - - InSiGHT LOVDv2 ID:12762; - - - 1 Michael Woods
?/- 15 c.*92dup - r.(=) p.(=) Class 1 - Unknown g.6012938dup - Clendenning et al., 2006 PMS2_000043 - - Germline (inherited) - - DNA ? - - ? - ? - - InSiGHT LOVDv2 ID:12738; - - - 1 Michael Woods
?/- 15 c.*92dup 780G>C (S260S), 1621G>A (E541K) r.(=) p.(=) Class 1 - Unknown g.6012938dup - Clendenning et al., 2006 PMS2_000043 - - Germline (inherited) - - DNA ? - - cancer, endometrial - ? - - InSiGHT LOVDv2 ID:12748; - - - 1 Michael Woods
?/- 15 c.*92dup 1621G>A (E541K) r.(=) p.(=) Class 1 - Unknown g.6012938dup - Clendenning et al., 2006 PMS2_000043 - - Germline (inherited) - - DNA ? - - ? - ? - - InSiGHT LOVDv2 ID:12750; - - - 1 Michael Woods
?/- 15 c.*92dup - r.(=) p.(=) Class 1 - Unknown g.6012938dup - Clendenning et al., 2006 PMS2_000043 - - Germline (inherited) - - DNA ? - - ? - ? - - InSiGHT LOVDv2 ID:12751; - - - 1 Michael Woods
?/- 15 c.*92dup - r.(=) p.(=) Class 1 - Unknown g.6012938dup - Clendenning et al., 2006 PMS2_000043 - - Germline (inherited) - - DNA ? - - cancer, endometrial - ? - - InSiGHT LOVDv2 ID:12752; - - - 1 Michael Woods
?/- 15 c.*92dup 780G>C (Ser260Ser) r.(=) p.(=) Class 1 - Unknown g.6012938dup - Clendenning et al., 2006 PMS2_000043 - - Germline (inherited) - - DNA ? - - ? - ? - - InSiGHT LOVDv2 ID:12753; - - - 1 Michael Woods
?/- 15 c.*92dup - r.(=) p.(=) Class 1 - Unknown g.6012938dup - Clendenning et al., 2006 PMS2_000043 - - Germline (inherited) - - DNA ? - - ? - ? - - InSiGHT LOVDv2 ID:12762; - - - 1 Michael Woods
?/+ 11_15 c.1145-1350_*20545del g.54564-54582_41826-41844del r.? p.? Class 5 - Unknown g.5992485_6028601del - van der Klift et al., 2005, Hendriks et al., 2006; van der Klift et al., 2010 PMS2_000334 - - Germline (inherited) - - DNA PCR, SEQ, Southern - - CRC - F NL - InSiGHT LOVDv2 ID:5007; - - Colorectal symptoms 1 Carli Tops
?/? 11 c.1875A>Y Leu625Phe r.(?) p.(Leu625Phe) N/A - Unknown g.6026521T>R - Balogh et al., 2003 PMS2_000227 - Idenitified in MCF-10F breast epithelial transform cells. Somatic - - DNA ? - - ? - ? - - InSiGHT LOVDv2 ID:12767; - - - 1 Michael Woods
+/? 11 g.[6027030_6027251del;6027252_6945161inv;6839984_6945161dup] - r.? p.? - - Paternal (inferred) g.[6027030_6027251del;6027252_6945161inv;6839984_6945161dup] - - PMS2_000326 - - Unknown - - DNA, RNA arrayCNV, MLPA, PCR - - cancer, brain - M - - InSiGHT LOVDv2 ID:1017274; - Yes - 1 Julia Vogt
+/? 11 g.[6027030_6027251del;6027252_6945161inv;6839984_6945161dup] - r.? p.? - - Maternal (inferred) g.[6027030_6027251del;6027252_6945161inv;6839984_6945161dup] - - PMS2_000326 - - Unknown - - DNA, RNA arrayCNV, MLPA, PCR - - cancer, brain - M - - InSiGHT LOVDv2 ID:1017274; - Yes - 1 Julia Vogt
?/- _1 c.-2559T>A - r.(=) p.(=) Class 1 - Unknown g.6051209A>T - Jeske et al., 2008 PMS2_000158 - -2472 from transcription start site Germline (inherited) - - DNA ? - - ? - ? - - InSiGHT LOVDv2 ID:12951; - - - 1 Michael Woods
?/- _1 c.-2146C>A - r.(=) p.(=) Class 1 - Unknown g.6050796G>T - Jeske et al., 2008 PMS2_000136 - -2059 from the transcription start site Germline (inherited) - - DNA ? - - ? - ? - - InSiGHT LOVDv2 ID:12925; - - - 1 Michael Woods
?/? _1 c.-963A>G - r.(?) p.(=) Class 3 - Unknown g.6049613T>C - Jeske et al., 2008 PMS2_000199 - -876 from the transcription start site; allele possibly playing a functional role in familial hyperaldosteronism type II (FH-II) Germline (inherited) - - DNA ? - - ? - ? - - InSiGHT LOVDv2 ID:12996; - - - 1 Michael Woods
?/? _1 c.-340G>T - r.(?) p.(=) Class 3 - Unknown g.6048990C>A - Hendriks et al., 2006 PMS2_000001 - - Germline (inherited) - - DNA SEQ - - CRC - ? - - InSiGHT LOVDv2 ID:5085; - - - 1 Juul Wijnen
?/- _1 c.-323G>T - r.(=) p.(=) Class 1 - Unknown g.6048973C>A - Hendriks et al., 2006 PMS2_000002 - - Germline (inherited) - - DNA SEQ - - CRC - ? - - InSiGHT LOVDv2 ID:5083; - - - 1 Juul Wijnen
?/- _1 c.-195T>C - r.(=) p.(=) Class 1 - Unknown g.6048845A>G - Hendriks et al., 2006 PMS2_000003 - - Germline (inherited) - - DNA SEQ - - CRC - ? - - InSiGHT LOVDv2 ID:5041; - - - 1 Juul Wijnen
?/- _1 c.-195T>C - r.(=) p.(=) Class 1 - Unknown g.6048845A>G - Thompson et al., 2004 PMS2_000003 - - Germline (inherited) - - DNA ? - - ? - ? - - InSiGHT LOVDv2 ID:12916; - - - 1 Michael Woods
?/- _1 c.-154C>G - r.(=) p.(=) Class 1 - Unknown g.6048804G>C - Hendriks et al., 2006 PMS2_000004 - - Germline (inherited) - - DNA SEQ - - CRC - ? - - InSiGHT LOVDv2 ID:4985; - - - 1 Juul Wijnen
?/- _1 c.-154C>G - r.(=) p.(=) Class 1 - Unknown g.6048804G>C - Thompson et al., 2004 PMS2_000004 - - Germline (inherited) - - DNA ? - - ? - ? - - InSiGHT LOVDv2 ID:12861; - - - 1 Michael Woods
?/? _1 c.-120del - r.(?) p.(=) N/A - Unknown g.6048770del - Miyaki et al., 1997 PMS2_000052 - - Somatic - - DNA ? - - ? - ? - - InSiGHT LOVDv2 ID:12828; - - - 1 Michael Woods
?/? _1 c.-101A>G - r.(?) p.(=) Class 3 - Unknown g.6048751T>C - Hendriks et al., 2006 PMS2_000005 - - Germline (inherited) - - DNA SEQ - - CRC - ? - - InSiGHT LOVDv2 ID:4943; - - - 1 Juul Wijnen
-?/- _1 c.-93G>A - r.(=) p.(=) Class 1 - Unknown g.6048743C>T - - PMS2_000241 - allele is trancsribed Germline (inherited) - - DNA, RNA RT-PCR, SEQ - - CRC - M ? North African InSiGHT LOVDv2 ID:1012048; - - Colorectal symptoms 1 Carli Tops
+/. _1_12i c.(?_-87)_(2174+1_2175-1)del c.-87-?_2174+?del/Del exon 1-12 r.? p.? Not classified - Unknown g.(6018328_6022454)_(6048737_?)del - - PMS2_000366 - - Germline (inherited) - - DNA SEQ - - - - - - - - - - - 1 Thomas v. O. Hansen
+/. _1_14i c.(?_-87)_(2445+1_2446-1)del c.-87-?_2445+?del /Deletion af exon 1-14 r.? p.? Not classified - Unknown g.(6013174_6017218)_(6048737_?)del - - PMS2_000367 - - Germline (inherited) - - DNA SEQ - - - - - - - - - - - 1 Thomas v. O. Hansen
?/. 1 c.-77delC - r.? p.? - - Unknown g.6048727delC - - PMS2_000374 - - Unknown - - DNA SEQ-NG-I - - Lynch Syndrome - - Brazil - - - - - 1 BARBARA LUISA SOARES
?/. 1 c.-53G>A c.-53G>A r.(=) p.(=) Not classified - Unknown g.6048703C>T - - PMS2_000375 - - Germline (inherited) - - DNA SEQ - - - - - - - - - - - 1 Thomas v. O. Hansen
+/? 1 c.1A>G - r.? p.0? - - Unknown g.6048650T>C - - PMS2_000256 - ICCON data, Westmead, NSW Germline (inherited) - - - - - - - - - - - - - - - - -
?/+? 1 c.1A>G - r.(?) p.? Class 4 - Parent #1 g.6048650T>C - Senter et al., 2008 PMS2_000256 - - Germline (inherited) - - DNA ? - - ? - ? - - InSiGHT LOVDv2 ID:12803; - - - 1 Michael Woods
?/+? 1 c.1A>G - r.(?) p.? Class 4 - Parent #1 g.6048650T>C - Senter et al., 2008 PMS2_000256 - - Germline (inherited) - - DNA ? - - ? - ? - - InSiGHT LOVDv2 ID:12804; - - - 1 Michael Woods
?/+? 1 c.1A>G - r.(?) p.? Class 4 - Parent #1 g.6048650T>C - Senter et al., 2008 PMS2_000256 - - Germline (inherited) - - DNA ? - - ? - ? - - InSiGHT LOVDv2 ID:12805; - - - 1 Michael Woods
?/+? 1 c.1A>G - r.(?) p.? Class 4 - Unknown g.6048650T>C - Borras et al., 2013 PMS2_000256 - - Germline (inherited) - - DNA SEQ - - cancer, endometrial - ? - - InSiGHT LOVDv2 ID:1013041; - - - 1 Gabriel Capellá
?/+? 1 c.1A>G c.1A>G r.(?) p.? Class 4 - Unknown g.6048650T>C - {microatt:1000399, Mark Jenkins; John Hopper} PMS2_000256 - - Germline (inherited) - - DNA SEQ - - ? - ? - - InSiGHT LOVDv2 ID:1013632; - - - 1 InSiGHT group
?/+? 1 c.1A>G c.1A>G r.(?) p.? Class 4 - Unknown g.6048650T>C - {microatt:1000586, Mark Jenkins; John Hopper} PMS2_000256 - - Germline (inherited) - - DNA SEQ - - ? - ? - - InSiGHT LOVDv2 ID:1013819; - - - 1 InSiGHT group
+/+? 1 c.1A>G - r.(?) p.? Class 4 - Maternal (confirmed) g.6048650T>C - Ian Berry, Leeds Genetics Laboratory PMS2_000256 - - Germline (inherited) - - DNA ? - - cancer, brain - F (UK) Caucasian Patient and sister deceased with PNET, suspected CMMRD. Tumours in both found to be negative for PMS2 staining (normal & tumour cells). Compound heterozygosity for c.1A>G and c.137G>T confirmed by parental testing. No known phenotype in parents.;InSiGHT LOVDv2 ID:1017231; - Yes - 1 Ian Berry
?/+? 1 c.1A>G c.1A>G r.? p.Met1Val Class 4 - Unknown g.6048650T>C - - PMS2_000256 - - Germline (inherited) - - DNA SEQ - - - - - - - - - - - 1 Thomas v. O. Hansen
-?/. 1i c.23+10G>C c.23+10G>C r.(=) p.(=) Not classified - Unknown g.6048618C>G - - PMS2_000340 - - Germline (inherited) - - DNA SEQ - - - - - - - - - - - 1 Thomas v. O. Hansen
?/. 1i c.23+72C>T c.23+72C>T r.(?) p.? - - Unknown g.6048556G>A - InSiGHT, Rossi et al. 2017 chr7_000001 - WT MaxEntScan score: 8.7; Variant MaxEntScan score: 8.7; Difference in MaxEntScan score between variant and WT (%): 0 Germline (inherited) - - DNA ? - - ? InSiGHT, Rossi et al. 2017 - Argentina - A survey of the clinicopathological and molecular characteristics of patients with suspected Lynch syndrome in Latin America - - - 5 MEV DOMINGUEZ VALENTIN
+/+ 1i_2 c.24-12_107delinsAAAT - r.24_163del p.Ser8Argfs*5 Class 5 - Unknown g.6045579_6045674delinsATTT - van der Klift et al., 2010 PMS2_000205 - 96bp deletion across intron1-exon2 border Germline (inherited) - - DNA, RNA MLPA, RT-PCR, SEQ - - cancer, endometrial - F NL - InSiGHT LOVDv2 ID:1011000; - - - 1 Carli Tops
+/+ 1i_2 c.24-12_107delinsAAAT - r.24_163del p.Ser8Argfs*5 Class 5 - Unknown g.6045579_6045674delinsATTT - van der Klift et al., 2010 PMS2_000205 - 96bp deletion across intron1-exon2 border Germline (inherited) - - DNA MLPA, PCR, SEQ - - ? - F NL - healthy parent, no material son (C33, ihc pms2-) available.;InSiGHT LOVDv2 ID:1011008; - - Call (screening) 1 Carli Tops
?/+ 1i_2 c.24-12_107delinsAAAT c.24-12_107delinsAAAT r.(?) p.?/(p.Ser8ArgfsX5) Class 5 - Unknown g.6045579_6045674delinsATTT - {microatt:1002659, Carli Tops} PMS2_000205 - 96bp deletion acros intron1-exon2 border Germline (inherited) - - DNA SEQ - - ? - ? - - InSiGHT LOVDv2 ID:1015892; bethesda - - 1 InSiGHT group
?/+ 1i_2 c.24-12_107delinsAAAT c.24-12_107delinsAAAT r.(?) p.?/(p.Ser8ArgfsX5) Class 5 - Unknown g.6045579_6045674delinsATTT - {microatt:1002660, Carli Tops} PMS2_000205 - 96bp deletion acros intron1-exon2 border Germline (inherited) - - DNA SEQ - - ? - ? - - InSiGHT LOVDv2 ID:1015893; bethesda - - 1 InSiGHT group
?/+ 1i_2 c.24-12_107delinsAAAT c.24-12_107delinsAAAT r.(?) p.?/(p.Ser8ArgfsX5) Class 5 - Unknown g.6045579_6045674delinsATTT - {microatt:1002661, Carli Tops} PMS2_000205 - - Germline (inherited) - - DNA SEQ - - ? - ? - - InSiGHT LOVDv2 ID:1015894; - - - 1 InSiGHT group
?/+ 1i_2 c.24-12_107delinsAAAT c.24-12_107delinsAAAT r.(?) p.?/(p.Ser8ArgfsX5) Class 5 - Unknown g.6045579_6045674delinsATTT - {microatt:1002662, Carli Tops} PMS2_000205 - - Germline (inherited) - - DNA SEQ - - ? - ? - - InSiGHT LOVDv2 ID:1015895; - - - 1 InSiGHT group
?/+ 1i_2 c.24-12_107delinsAAAT c.24-12_107delinsAAAT r.(?) p.?/(p.Ser8ArgfsX5) Class 5 - Unknown g.6045579_6045674delinsATTT - {microatt:1002663, Carli Tops} PMS2_000205 - - Germline (inherited) - - DNA SEQ - - ? - ? - - InSiGHT LOVDv2 ID:1015896; - - - 1 InSiGHT group
?/+ 1i_2 c.24-12_107delinsAAAT PMS2:c.24-12_107delinsAAAT r.(?) p.? Class 5 - Unknown g.6045579_6045674delinsATTT - {microatt:1003465, Fiona Lalloo} PMS2_000205 - - Germline (inherited) - - DNA SEQ - - ? - ? - - InSiGHT LOVDv2 ID:1016589; Amsterdam - - 1 InSiGHT group
+/? 1i_2 c.24-12_107delinsAAAT - r.? p.? - - Unknown g.6045579_6045674delinsATTT - - PMS2_000205 - ICCON data, Westmead, NSW Germline (inherited) - - - - - - - - - - - - - - - - -
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