Full data view for gene PMS2


PMS2 variants classified by the InSiGHT consortium: criteria used for classification are available here. We encourage submission of relevant unpublished information to assist in the classification of variants via LOVD or this template which can be emailed to the curator.
Information The variants shown are described using the NM_000535.6 transcript reference sequence.

54 entries on 1 page. Showing entries 1 - 54.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     
+/. 7 c.736_741delinsTGTGTGTGAAG r.(?) p.(Pro246Cysfs*3) Unknown - pathogenic g.6037019_6037024delinsCTTCACACACA g.5997388_5997393delinsCTTCACACACA - - 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) PubMed: Haraldsdottir 2018 - - Germline - - - - - DNA SEQ - Imputation of 31.6 million variants based on WGS of 8,453 Icelanders - variant confirmed by genotyping, screen date 2015-01-01 CRC - PubMed: Haraldsdottir 2018 - F - Iceland - - - - - 1 Sigurdis Haraldsdottir
+/. 7 c.736_741delinsTGTGTGTGAAG r.(?) p.Pro246Cysfs*3 Unknown - pathogenic g.6037019_6037024delinsCTTCACACACA g.5997388_5997393delinsCTTCACACACA - - 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) PubMed: Haraldsdottir 2018 - - Germline - - - - - DNA SEQ - WGS, screen date 2015-01-01 CRC - PubMed: Haraldsdottir 2018 - F - Iceland - - - - - 1 Sigurdis Haraldsdottir
+/. 7 c.736_741delinsTGTGTGTGAAG r.(?) p.Pro246Cysfs*3 Unknown - pathogenic g.6037019_6037024delinsCTTCACACACA g.5997388_5997393delinsCTTCACACACA - - 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) PubMed: Haraldsdottir 2018 - - Germline - - - - - DNA SEQ - Imputation of 31.6 million variants based on WGS of 8,453 Icelanders - variant confirmed by genotyping, screen date 2015-01-01 CRC - PubMed: Haraldsdottir 2018 - M - Iceland - - - - - 1 Sigurdis Haraldsdottir
+/. 7 c.736_741delinsTGTGTGTGAAG r.(?) p.Pro246Cysfs*3 Unknown - pathogenic g.6037019_6037024delinsCTTCACACACA g.5997388_5997393delinsCTTCACACACA - - 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) PubMed: Haraldsdottir 2018 - - Germline - - - - - DNA SEQ - Imputation of 31.6 million variants based on WGS of 8,453 Icelanders - variant confirmed by genotyping, screen date 2015-01-01 CRC - PubMed: Haraldsdottir 2018 - M - Iceland - - - - - 1 Sigurdis Haraldsdottir
+/. 7 c.736_741delinsTGTGTGTGAAG r.(?) p.Pro246Cysfs*3 Unknown - pathogenic g.6037019_6037024delinsCTTCACACACA g.5997388_5997393delinsCTTCACACACA - - 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) PubMed: Haraldsdottir 2018 - - Germline - - - - - DNA SEQ - Imputation of 31.6 million variants based on WGS of 8,453 Icelanders - variant confirmed by genotyping, screen date 2015-01-01 CRC - PubMed: Haraldsdottir 2018 - M - Iceland - - - - - 1 Sigurdis Haraldsdottir
+/. 7 c.736_741delinsTGTGTGTGAAG r.(?) p.Pro246Cysfs*3 Unknown - pathogenic g.6037019_6037024delinsCTTCACACACA g.5997388_5997393delinsCTTCACACACA - - 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) PubMed: Haraldsdottir 2018 - - Germline - - - - - DNA SEQ - Imputation of 31.6 million variants based on WGS of 8,453 Icelanders - variant confirmed by genotyping, screen date 2015-01-01 CRC - PubMed: Haraldsdottir 2018 - M - Iceland - - - - - 1 Sigurdis Haraldsdottir
+/. 7 c.736_741delinsTGTGTGTGAAG r.(?) p.Pro246Cysfs*3 Unknown - pathogenic g.6037019_6037024delinsCTTCACACACA g.5997388_5997393delinsCTTCACACACA - - 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) PubMed: Haraldsdottir 2018 - - Germline - - - - - DNA SEQ - Imputation of 31.6 million variants based on WGS of 8,453 Icelanders - variant confirmed by genotyping, screen date 2015-01-01 CRC - PubMed: Haraldsdottir 2018 - M - Iceland - - - - - 1 Sigurdis Haraldsdottir
+/. 7 c.736_741delinsTGTGTGTGAAG r.(?) p.Pro246Cysfs*3 Unknown - pathogenic g.6037019_6037024delinsCTTCACACACA g.5997388_5997393delinsCTTCACACACA - - 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) PubMed: Haraldsdottir 2018 - - Germline - - - - - DNA SEQ - Imputation of 31.6 million variants based on WGS of 8,453 Icelanders - variant confirmed by genotyping, screen date 2015-01-01 CRC - PubMed: Haraldsdottir 2018 - M - Iceland - - - - - 1 Sigurdis Haraldsdottir
+/. 7 c.736_741delinsTGTGTGTGAAG r.(?) p.Pro246Cysfs*3 Unknown - pathogenic g.6037019_6037024delinsCTTCACACACA g.5997388_5997393delinsCTTCACACACA - - 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) PubMed: Haraldsdottir 2018 - - Germline - - - - - DNA SEQ - Imputation of 31.6 million variants based on WGS of 8,453 Icelanders - variant confirmed by genotyping, screen date 2015-01-01 CRC - PubMed: Haraldsdottir 2018 - M - Iceland - - - - - 1 Sigurdis Haraldsdottir
+/. 7 c.736_741delinsTGTGTGTGAAG r.(?) p.Pro246Cysfs*3 Unknown - pathogenic g.6037019_6037024delinsCTTCACACACA g.5997388_5997393delinsCTTCACACACA - - 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) PubMed: Haraldsdottir 2018 - - Germline - - - - - DNA SEQ - Imputation of 31.6 million variants based on WGS of 8,453 Icelanders - variant confirmed by genotyping, screen date 2015-01-01 CRC - PubMed: Haraldsdottir 2018 - M - Iceland - - - - - 1 Sigurdis Haraldsdottir
+/. 7 c.736_741delinsTGTGTGTGAAG r.(?) p.Pro246Cysfs*3 Unknown - pathogenic g.6037019_6037024delinsCTTCACACACA g.5997388_5997393delinsCTTCACACACA - - 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) PubMed: Haraldsdottir 2018 - - Germline - - - - - DNA SEQ - Imputation of 31.6 million variants based on WGS of 8,453 Icelanders - variant confirmed by genotyping, screen date 2015-01-01 CRC - PubMed: Haraldsdottir 2018 - M - Iceland - - - - - 1 Sigurdis Haraldsdottir
+/. 7 c.736_741delinsTGTGTGTGAAG r.(?) p.Pro246Cysfs*3 Unknown - pathogenic g.6037019_6037024delinsCTTCACACACA g.5997388_5997393delinsCTTCACACACA - - 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) PubMed: Haraldsdottir 2018 - - Germline - - - - - DNA SEQ - WGS, screen date 2015-01-01 CRC - PubMed: Haraldsdottir 2018 - M - Iceland - - - - - 1 Sigurdis Haraldsdottir
+/. 7 c.736_741delinsTGTGTGTGAAG r.(?) p.(Pro246CysfsTer3) Unknown - pathogenic g.6037019_6037024delinsCTTCACACACA g.5997388_5997393delinsCTTCACACACA - - PMS2_000187 Submitted by ICCon – South Australia - - - Germline - - - - - DNA SEQ - - ? - - Submitted by ICCON South Australia - - Australia - - - - - 1 ICCon
+/. 7 c.736_741delinsTGTGTGTGAAG r.(?) p.(Pro246CysfsTer3) Unknown - pathogenic g.6037019_6037024delinsCTTCACACACA g.5997388_5997393delinsCTTCACACACA - - PMS2_000187 Submitted by ICCon – South Australia - - - Germline - - - - - DNA SEQ - - ? - - Submitted by ICCON South Australia - - Australia - - - - - 1 ICCon
+/. 7 c.736_741delinsTGTGTGTGAAG r.(?) p.(Pro246CysfsTer3) Unknown - pathogenic g.6037019_6037024delinsCTTCACACACA g.5997388_5997393delinsCTTCACACACA - - PMS2_000187 Submitted by ICCon – South Australia - - - Germline - - - - - DNA SEQ - - ? - - Submitted by ICCON South Australia - - Australia - - - - - 1 ICCon
+/. 7 c.736_741delinsTGTGTGTGAAG r.0 p.Pro246Cysfs*3 Unknown - pathogenic g.6037019_6037024delinsCTTCACACACA g.5997388_5997393delinsCTTCACACACA c.736_741delCCCCCTins11 - PMS2_000187 - PubMed: Clendenning 2006 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
+/. 7 c.736_741delinsTGTGTGTGAAG r.0 p.Pro246Cysfs*3 Parent #1 - pathogenic g.6037019_6037024delinsCTTCACACACA g.5997388_5997393delinsCTTCACACACA c.736_741delCCCCCTins11 - PMS2_000187 - PubMed: Clendenning 2006 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
+/. 7 c.736_741delinsTGTGTGTGAAG r.0 p.Pro246Cysfs*3 Parent #1 - pathogenic g.6037019_6037024delinsCTTCACACACA g.5997388_5997393delinsCTTCACACACA 1621G>A (E541K) - PMS2_000187 - PubMed: Clendenning 2006 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
+/. 7 c.736_741delinsTGTGTGTGAAG r.0 p.Pro246Cysfs*3 Unknown - pathogenic g.6037019_6037024delinsCTTCACACACA g.5997388_5997393delinsCTTCACACACA c.736_741delCCCCCTins11 - PMS2_000187 only nucleotide info available PubMed: Lagerstedt Robinson 2007 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
+/. 7 c.736_741delinsTGTGTGTGAAG r.0 p.Pro246Cysfs*3 Unknown - pathogenic g.6037019_6037024delinsCTTCACACACA g.5997388_5997393delinsCTTCACACACA c.736_741delCCCCCTins11 - PMS2_000187 - PubMed: Halvarsson 2006 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
+/. 7 c.736_741delinsTGTGTGTGAAG r.0 p.Pro246Cysfs*3 Unknown - pathogenic g.6037019_6037024delinsCTTCACACACA g.5997388_5997393delinsCTTCACACACA c.736_741delCCCCCTins11 - PMS2_000187 - PubMed: Senter 2008; PubMed: Tomsic 2012; PubMed: Woods 2010 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
+/. 7 c.736_741delinsTGTGTGTGAAG r.0 p.Pro246Cysfs*3 Unknown - pathogenic g.6037019_6037024delinsCTTCACACACA g.5997388_5997393delinsCTTCACACACA - - PMS2_000187 - PubMed: Clendenning 2008 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
+/. 7 c.736_741delinsTGTGTGTGAAG r.0 p.Pro246Cysfs*3 Unknown - pathogenic g.6037019_6037024delinsCTTCACACACA g.5997388_5997393delinsCTTCACACACA - - PMS2_000187 - - - - Germline - - - - - DNA SEQ - - CRC - - - ? - Germany - - - - - 1 Elke Holinski-Feder
+/. 7 c.736_741delinsTGTGTGTGAAG r.0 p.Pro246Cysfs*3 Unknown - pathogenic g.6037019_6037024delinsCTTCACACACA g.5997388_5997393delinsCTTCACACACA - - PMS2_000187 - PubMed: van der Klift 2010; PubMed: Leenen 2011 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - ? - - healthy parent of affected child;InSiGHT LOVDv2 ID:1011012; F - Netherlands - - - - - 1 Carli Tops
+/. 7 c.736_741delinsTGTGTGTGAAG r.0 p.Pro246Cysfs*3 Unknown - pathogenic g.6037019_6037024delinsCTTCACACACA g.5997388_5997393delinsCTTCACACACA - - PMS2_000187 subjected to NMD PubMed: van der Klift 2010 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - CRC - - - F - Netherlands - - - - - 1 Carli Tops
+/. 7 c.736_741delinsTGTGTGTGAAG r.0 p.Pro246Cysfs*3 Maternal (confirmed) - pathogenic g.6037019_6037024delinsCTTCACACACA g.5997388_5997393delinsCTTCACACACA - - PMS2_000187 - PubMed: van der Klift 2010; PubMed: Leenen 2011 - - Germline - - - - - DNA SEQ - - cancer, brain - - - M - Netherlands - - - - - 1 Carli Tops
+/. 7 c.736_741delinsTGTGTGTGAAG r.0 p.Pro246Cysfs*3 Paternal (confirmed) - pathogenic g.6037019_6037024delinsCTTCACACACA g.5997388_5997393delinsCTTCACACACA - - PMS2_000187 - Clinical Genetics, LUMC, Leiden, NL - - Germline - - - - - DNA SEQ - - cancer, endometrial - - germline PMS2 c.736_741del6ins11 and MLH1 c.2146G>A (p.Val716Met);InSiGHT LOVDv2 ID:1012869; F - (Netherlands) - - - - - 1 Carli Tops
+/. 7 c.736_741delinsTGTGTGTGAAG r.(?) p.(Pro246Cysfs*3) Unknown - pathogenic g.6037019_6037024delinsCTTCACACACA g.5997388_5997393delinsCTTCACACACA c.736_741delinsTGTGTGTGAAG - PMS2_000187 - Mark Jenkins; John Hopper - - Germline - - - - - DNA SEQ - - ? - - 3 Australian probands, segregation LR 1.9 Ð [Aus CCFR] ? - - - - - - - 1 INSiGHT group
+/. 7 c.736_741delinsTGTGTGTGAAG r.(?) p.(Pro246Cysfs*3) Unknown - pathogenic g.6037019_6037024delinsCTTCACACACA g.5997388_5997393delinsCTTCACACACA c.736_741delinsTGTGTGTGAAG - PMS2_000187 - Mark Jenkins; John Hopper - - Germline - - - - - DNA SEQ - - ? - - - ? - - - - - - - 1 INSiGHT group
+/. 7 c.736_741delinsTGTGTGTGAAG r.(?) p.(Pro246Cysfs*3) Unknown - pathogenic g.6037019_6037024delinsCTTCACACACA g.5997388_5997393delinsCTTCACACACA c.736_741delinsTGTGTGTGAAG - PMS2_000187 1x splice defect ob cDNA-Level, constitutive MMR-def. In 2 children, ALL with 3 or 4 y, hyperpigmentation age 1y, no cafe-au-lait spots Elke Holinski-Feder and Monika Morak - - Germline - - - - - DNA SEQ - - ? - - - ? - - - - - - - 1 INSiGHT group
+/. 7 c.736_741delinsTGTGTGTGAAG r.(?) p.(Pro246Cysfs*3) Unknown - pathogenic g.6037019_6037024delinsCTTCACACACA g.5997388_5997393delinsCTTCACACACA c.736_741delinsTGTGTGTGAAG - PMS2_000187 - Kristina Lagerstedt Robinson - - Germline - - - - - DNA SEQ - - ? - - - ? - - - - - - - 1 INSiGHT group
+/. 7 c.736_741delinsTGTGTGTGAAG r.(?) p.(Pro246CysfsTer3) Unknown - pathogenic g.6037019_6037024delinsCTTCACACACA g.5997388_5997393delinsCTTCACACACA PMS2:c.736_741del6ins11 - PMS2_000187 - Pal Moller - - Germline - - - - - DNA SEQ - - ? - - - ? - - - - - - - 1 INSiGHT group
+/. 7 c.736_741delinsTGTGTGTGAAG r.(?) p.Pro246CysfsX3 Unknown - pathogenic g.6037019_6037024delinsCTTCACACACA g.5997388_5997393delinsCTTCACACACA c.736_741del6ins11 - PMS2_000187 - Carli Tops - - Germline - - - - - DNA SEQ - - ? - - solitary ? - - - - - - - 1 INSiGHT group
+/. 7 c.736_741delinsTGTGTGTGAAG r.(?) p.Pro246CysfsX3 Unknown - pathogenic g.6037019_6037024delinsCTTCACACACA g.5997388_5997393delinsCTTCACACACA c.736_741del6ins11 - PMS2_000187 CMMRD already in LOVD Carli Tops - - Germline - - - - - DNA SEQ - - ? - - - ? - - - - - - - 1 INSiGHT group
+/. 7 c.736_741delinsTGTGTGTGAAG r.(?) p.Pro246CysfsX3 Unknown - pathogenic g.6037019_6037024delinsCTTCACACACA g.5997388_5997393delinsCTTCACACACA c.736_741del6ins11 - PMS2_000187 CMMRD already in LOVD Carli Tops - - Germline - - - - - DNA SEQ - - ? - - - ? - - - - - - - 1 INSiGHT group
+/. 7 c.736_741delinsTGTGTGTGAAG r.(?) p.Pro246CysfsX3 Unknown - pathogenic g.6037019_6037024delinsCTTCACACACA g.5997388_5997393delinsCTTCACACACA c.736_741del6ins11 - PMS2_000187 - Carli Tops - - Germline - - - - - DNA SEQ - - ? - - - ? - - - - - - - 1 INSiGHT group
+/. 7 c.736_741delinsTGTGTGTGAAG r.(?) p.Pro246CysfsX3 Unknown - pathogenic g.6037019_6037024delinsCTTCACACACA g.5997388_5997393delinsCTTCACACACA c.736_741del6ins11 - PMS2_000187 ?already in dbase? Carli Tops - - Germline - - - - - DNA SEQ - - ? - - - ? - - - - - - - 1 INSiGHT group
+/. 7 c.736_741delinsTGTGTGTGAAG r.(?) p.Pro246CysfsX3 Unknown - pathogenic g.6037019_6037024delinsCTTCACACACA g.5997388_5997393delinsCTTCACACACA c.736_741del6ins11 - PMS2_000187 - Carli Tops - - Germline - - - - - DNA SEQ - - ? - - - ? - - - - - - - 1 INSiGHT group
+/. 7 c.736_741delinsTGTGTGTGAAG r.(?) p.Pro246CysfsX3 Unknown - pathogenic g.6037019_6037024delinsCTTCACACACA g.5997388_5997393delinsCTTCACACACA c.736_741del6ins11 - PMS2_000187 - Carli Tops - - Germline - - - - - DNA SEQ - - ? - - - ? - - - - - - - 1 INSiGHT group
+/. 7 c.736_741delinsTGTGTGTGAAG r.(?) p.Pro246CysfsX3 Unknown - pathogenic g.6037019_6037024delinsCTTCACACACA g.5997388_5997393delinsCTTCACACACA c.736_741del6ins11 - PMS2_000187 - Carli Tops - - Germline - - - - - DNA SEQ - - ? - - solitary ? - - - - - - - 1 INSiGHT group
+/. 7 c.736_741delinsTGTGTGTGAAG r.(?) p.Pro246CysfsX3 Unknown - pathogenic g.6037019_6037024delinsCTTCACACACA g.5997388_5997393delinsCTTCACACACA c.736_741del6ins11 - PMS2_000187 - Carli Tops - - Germline - - - - - DNA SEQ - - ? - - solitary ? - - - - - - - 1 INSiGHT group
+/. 7 c.736_741delinsTGTGTGTGAAG r.(?) p.Pro246CysfsX3 Unknown - pathogenic g.6037019_6037024delinsCTTCACACACA g.5997388_5997393delinsCTTCACACACA c.736_741del6ins11 - PMS2_000187 - Carli Tops - - Germline - - - - - DNA SEQ - - ? - - solitary ? - - - - - - - 1 INSiGHT group
+/. 7 c.736_741delinsTGTGTGTGAAG r.(?) p.Pro246CysfsX3 Unknown - pathogenic g.6037019_6037024delinsCTTCACACACA g.5997388_5997393delinsCTTCACACACA c.736_741del6ins11 - PMS2_000187 - Carli Tops - - Germline - - - - - DNA SEQ - - ? - - solitary ? - - - - - - - 1 INSiGHT group
+/. 7 c.736_741delinsTGTGTGTGAAG r.(?) p.Pro246CysfsX3 Unknown - pathogenic g.6037019_6037024delinsCTTCACACACA g.5997388_5997393delinsCTTCACACACA c.736_741del6ins11 - PMS2_000187 - Carli Tops - - Germline - - - - - DNA SEQ - - ? - - (Father possibly CRC,died) solitary ? - - - - - - - 1 INSiGHT group
+/. 7 c.736_741delinsTGTGTGTGAAG r.(?) p.Pro246CysfsX3 Unknown - pathogenic g.6037019_6037024delinsCTTCACACACA g.5997388_5997393delinsCTTCACACACA c.736_741del6ins11 - PMS2_000187 - Carli Tops - - Germline - - - - - DNA SEQ - - ? - - - ? - - - - - - - 1 INSiGHT group
+/. 7 c.736_741delinsTGTGTGTGAAG r.(?) p.Pro246CysfsX3 Unknown - pathogenic g.6037019_6037024delinsCTTCACACACA g.5997388_5997393delinsCTTCACACACA c.736_741del6ins11 - PMS2_000187 - Carli Tops - - Germline - - - - - DNA SEQ - - ? - - - ? - - - - - - - 1 INSiGHT group
+/. 7 c.736_741delinsTGTGTGTGAAG r.(?) p.Pro246CysfsX3 Unknown - pathogenic g.6037019_6037024delinsCTTCACACACA g.5997388_5997393delinsCTTCACACACA c.736_741del6ins11 - PMS2_000187 - Carli Tops - - Germline - - - - - DNA SEQ - - ? - - - ? - - - - - - - 1 INSiGHT group
+/. 7 c.736_741delinsTGTGTGTGAAG r.(?) p.Pro246Cysfs*3 Unknown - pathogenic g.6037019_6037024delinsCTTCACACACA g.5997388_5997393delinsCTTCACACACA c.736_741delins11 - PMS2_000187 - - - - Germline - - - - - DNA SEQ - - - - - - - - - - - - - - 1 Thomas Hansen
+/. 7 c.736_741delinsTGTGTGTGAAG r.(?) p.Pro246Cysfs*3 Unknown - pathogenic g.6037019_6037024delinsCTTCACACACA g.5997388_5997393delinsCTTCACACACA c.736_741delins11 - PMS2_000187 - - - - Germline - - - - - DNA SEQ - - - - - - - - - - - - - - 1 Thomas Hansen
+/. 7 c.736_741delinsTGTGTGTGAAG r.(?) p.Pro246Cysfs*3 Unknown - pathogenic g.6037019_6037024delinsCTTCACACACA g.5997388_5997393delinsCTTCACACACA c.736_741delins11 - PMS2_000187 - - - - Germline - - - - - DNA SEQ - - - - - - - - - - - - - - 1 Thomas Hansen
+/. 7 c.736_741delinsTGTGTGTGAAG r.(?) p.Pro246Cysfs*3 Unknown - pathogenic g.6037019_6037024delinsCTTCACACACA g.5997388_5997393delinsCTTCACACACA c.736_741delins11 - PMS2_000187 - - - - Germline - - - - - DNA SEQ - - - - - - - - - - - - - - 1 Thomas Hansen
?/. - c.736_741delinsTGTGTGTGAAG r.(?) p.(Pro246Cysfs*3) Parent #1 - NA g.6037019_6037024delinsCTTCACACACA - chr7_6037019_AGGGGG_CTTCACACACA - PMS2_000187 not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
+/+ 7 c.736_741delinsTGTGTGTGAAG r.(?) p.(Pro246Cysfs*3) Unknown - pathogenic g.6037019_6037024delinsCTTCACACACA g.5997388_5997393delinsCTTCACACACA - - PMS2_000187 - - - - Germline/De novo (untested) - - - - - DNA SEQ - year test performed: 2019, 7 gene ', Lynch-like', panel includes MLH1, MSH2, MSH6 and PMS2 CRC - - - M - (United Kingdom (Great Britain)) - - - - - 1 Treena Cranston
+/. - c.736_741delinsTGTGTGTGAAG r.(?) p.(Pro246Cysfs*3) Unknown - pathogenic g.6037019_6037024delinsCTTCACACACA - PMS2(NM_000535.7):c.736_741delCCCCCTinsTGTGTGTGAAG (p.P246Cfs*3) - PMS2_000187 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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