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 We encourage submission of relevant unpublished information to assist in the classification of variants via LOVD or this template which can be emailed to the curator.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.

2712 entries on 28 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2 3 4 5 6 7 8 9 10 11 ...     Next › Last »

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     
?/. 10i_15_ c.(1144+1_1145-1)_(*160_?)del r.(?) p.Gly382_X863del Unknown - VUS g.(?_6012870)_(6027252_6029430)del - c.1145-?_2589+?del - PMS2_000270 del ex 11_15, 36116 nt Carli Tops - - Germline - - - 0 - DNA SEQ - - ? - - - ? - - - - 0 - - 1 INSiGHT group
?/. 10i_15_ c.(1144+1_1145-1)_(*160_?)del r.(?) p.Gly382_X863del Unknown - VUS g.(?_6012870)_(6027252_6029430)del - c.1145-?_2589+?del - PMS2_000270 - Carli Tops - - Germline - - - 0 - DNA SEQ - - ? - - - ? - - - - 0 - - 1 INSiGHT group
?/. 10i_15_ c.(1144+1_1145-1)_(*160_?)del r.(?) p.Gly382_X863del Unknown - VUS g.(?_6012870)_(6027252_6029430)del - c.1145-?_2589+?del - PMS2_000270 - Carli Tops - - Germline - - - 0 - DNA SEQ - - ? - - - ? - - - - 0 - - 1 INSiGHT group
?/. 10i_15_ c.(1144+1_1145-1)_(*160_?)del r.(?) p.Gly382_X863del Unknown - VUS g.(?_6012870)_(6027252_6029430)del - c.1145-?_2589+?del - PMS2_000270 - Carli Tops - - Germline - - - 0 - DNA SEQ - - ? - - - ? - - - - 0 - - 1 INSiGHT group
+?/. 11-15 c.(1144+1_1145-1)_(*16781_?)del r.? p.? Unknown ACMG likely pathogenic g.5996249_6045641del g.5956618_6006010del - - PMS2_000512 Deletion PMS2 E11-E15; NG_008466.1(NM_000535.5):c.(1144+1_1145-1)_(*16781_?)del - - - Germline ? - - 0 - DNA MLPA, SEQ-NG-I germline - HNPCC 37081 - - F ? Germany german - 0 - - 1 Andreas Laner
+?/. 14i_15_ c.(2445+1_2446-1)_(*160_?)del r.(?) p.? Unknown - likely pathogenic g.(?_6012870)_(6013174_6017218)del - Dosage reduction ~0.75 - PMS2_000335 Dosage drop, detected by comparative read depth analysis and MLPA. Not unequivocally assignable to PMS2 or PMS2CL on this basis, but equivalent cases have been resolved with further testing in the literature; odds in favour of PMS2 involvement. - - - Unknown - - - 0 - DNA MLPA - - CRC - - - M - United Kingdom (Great Britain) - - 0 - - 1 Ian Berry
+?/. 14i_15_ c.(2445+1_2446-1)_(*160_?)del r.(?) p.? Unknown - likely pathogenic g.(?_6012870)_(6013174_6017218)del - Dosage reduction ~0.75 - PMS2_000335 Dosage drop, detected by comparative read depth analysis and MLPA. Not unequivocally assignable to PMS2 or PMS2CL on this basis, but equivalent cases have been resolved with further testing in the literature; odds in favour of PMS2 involvement. - - - Unknown - - - 0 - DNA MLPA - - CRC - - - F - United Kingdom (Great Britain) - - 0 - - 1 Ian Berry
+/+ 4i_15_ c.(353+1_354-1)_(*160_?)del r.? p.? Unknown - pathogenic g.(?_6012870)_(6042268_6043320)del - - - PMS2_000209 Insight class: 5 - - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 4i_15_ c.(353+1_354-1)_(*160_?)del r.(?) p.? Unknown - pathogenic g.(?_6012870)_(6042268_6043320)del - del ex (3-)5-15 - PMS2_000209 exon 3 and 4 not in MLPA - could be in the deletion PubMed: van der Klift 2010 - - Germline - - - 0 - DNA MLPA - - CRC - - - M - Netherlands - - 0 - - 1 Carli Tops
+/. 5i_6i c.(537+1_538-1)_(705+1_706-1) r.? p? Unknown - pathogenic g.(6037055_6038738)_(6038907_6042083)del - - - PMS2_000293 - - - - Germline - - - 0 - DNA MLPA - - cancer, endometrial - - - F - Spain - - 0 - - 1 José Luis Soto
+/+ 8i_15_ c.(903+1_904-1)_(*160_?)del r.? p.? Unknown - pathogenic g.(?_6012870)_(6031689_6035164)del - - - PMS2_000197 Insight class: 5 - - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 8i_15_ c.(903+1_904-1)_(*160_?)del r.(?) p.? Parent #1 - pathogenic g.(?_6012870)_(6031689_6035164)del - - - 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. PubMed: Will 2007 - - Germline - - - 0 - DNA ? - - CRC - - - ? - - - - 0 - - 1 Michael Woods
+/. 8i_15_ c.(903+1_904-1)_(*160_?)del r.(?) p.? Parent #2 - pathogenic g.(?_6012870)_(6031689_6035164)del - - - 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. PubMed: Will 2007 - - Germline - - - 0 - DNA ? - - CRC - - - ? - - - - 0 - - 1 Michael Woods
+/. 8i_15_ c.(903+1_904-1)_(*160_?)del r.(?) p.? Unknown - pathogenic g.(?_6012870)_(6031689_6035164)del - - - 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. PubMed: Will 2007 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
+/+ 9i_15_ c.(988+1_989-1)_(*160_?)del r.? p.? Unknown - pathogenic g.(?_6012870)_(6029587_6031603)del - - - PMS2_000248 Insight class: 5 - - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 9i_15_ c.(988+1_989-1)_(*160_?)del r.(?) p.? Unknown - pathogenic g.(?_6012870)_(6029587_6031603)del - - - PMS2_000248 - PubMed: Borras 2013 - - Germline - - - 0 - DNA MLPA - - cancer - - - ? - - - - 0 - - 1 Gabriel Capella
+/. 9i_15_ c.(988+1_989-1)_(*160_?)del r.(?) p.? Unknown - pathogenic g.(?_6012870)_(6029587_6031603)del - - - PMS2_000248 - - - - Germline/De novo (untested) - - - 0 - DNA SEQ - year test performed: 2017 cancer, endometrial - - Selection criteria for proband testing: IHC F - (United Kingdom (Great Britain)) - - 0 - - 1 Treena Cranston
+/+ _1_15_ c.(?_-87)_(*160_?)del r.0? p.0? Unknown - pathogenic g.(?_6012870)_(6048737_?)del - - - PMS2_000007 Insight class: 5 - - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. _1_15_ c.(?_-87)_(*160_?)del r.(?) p.? Unknown - pathogenic g.(?_6012870)_(6048737_?)del - del ex1_15 - PMS2_000007 - PubMed: van der Klift 2005, PubMed: Hendriks 2006 - - Germline - - - 0 - DNA Southern - - CRC - - - ? - Netherlands - - 0 - - 1 Juul Wijnen
+/. _1_15_ c.(?_-87)_(*160_?)del r.(?) p.? Parent #1 - pathogenic g.(?_6012870)_(6048737_?)del - Deletion of Exon 1-15 - PMS2_000007 - PubMed: Senter 2008; PubMed: Tomsic 2012 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
+/. _1_15_ c.(?_-87)_(*160_?)del r.(?) p.? Unknown - pathogenic g.(?_6012870)_(6048737_?)del - Deletion of Exon 1-15 - PMS2_000007 - PubMed: Senter 2008; PubMed: Tomsic 2012 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
+/. _1_15_ c.(?_-87)_(*160_?)del r.(?) p.? Unknown - pathogenic g.(?_6012870)_(6048737_?)del - deletion of Exon1-15 and duplication of 3' related gene (c.1-?_2589?del). - PMS2_000007 - PubMed: Hendriks 2006 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
+/. _1_15_ c.(?_-87)_(*160_?)del r.(?) p.? Unknown - pathogenic g.(?_6012870)_(6048737_?)del - Deletion of PMS2 - PMS2_000007 - PubMed: Overbeek 2007; PubMed: Tomsic 2012 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
+/. _1_15_ c.(?_-87)_(*160_?)del r.(?) p.? Unknown - pathogenic g.(?_6012870)_(6048737_?)del - del ex 1-15, dupPMS2CL - PMS2_000007 - PubMed: van der Klift 2010 - - Germline - - - 0 - DNA MLPA, Southern - - CRC - - - F - Netherlands - - 0 - - 1 Carli Tops
+/. _1_15_ c.(?_-87)_(*160_?)del r.(?) p.? Unknown - pathogenic g.(?_6012870)_(6048737_?)del - PMS2 exon 1-15 del - PMS2_000007 - PubMed: Thompson 2013; PubMed: Tomsic 2012; PubMed: Senter 2008 - - Germline - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 1 Mark Jenkins
+/. _1_15_ c.(?_-87)_(*160_?)del r.(?) p.? Unknown - pathogenic g.(?_6012870)_(6048737_?)del - MLH1:c.198C>T; PMS2:c.(?_-87)_(*160_?)del - PMS2_000007 - Mark Jenkins - - Germline - - - 0 - DNA ? - - ? - - - - - - - - 0 - - 1 INSiGHT group
+/. _1_15_ c.(?_-87)_(*160_?)del r.? p.? Unknown - pathogenic g.(?_6012870)_(6048737_?)del - c.1-?_2586+?del Whole gene deletion - PMS2_000007 - PubMed: Lagerstedt-Robinson 2016 - - Germline - - - 0 - DNA ? - - HNPCC - PubMed: Lagerstedt-Robinson 2016 - - - Sweden - - 0 - - 1 Kristina Lagerstedt Robinson
+/. - c.(?_706-1)_(*1_?)del r.? p.? Unknown ACMG pathogenic g.(?_6013029)_(6037055_?)del - g.6013030_6037054del - PMS2_001008 - - - - Germline - - - 0 - DNA SEQ-NG - - BROVCA - - - F - - - - - - - 1 Gemeinschaftspraxis für Humangenetik Dresden
-?/. - c.*107A>G r.(=) p.(=) Unknown - likely benign g.6012923T>C g.5973292T>C - - PMS2_000427 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/- 15 c.*17G>C r.(?) p.(=) Unknown - benign g.6013013C>G g.5973382C>G - - PMS2_000042 Insight class: 1 - - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.*17G>C r.(=) p.(=) Unknown - benign g.6013013C>G g.5973382C>G PMS2(NM_000535.5):c.*17G>C - PMS2_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.*17G>C r.(=) p.(=) Unknown - likely benign g.6013013C>G g.5973382C>G PMS2(NM_000535.5):c.*17G>C - PMS2_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.*17G>C r.(=) p.(=) Unknown - benign g.6013013C>G g.5973382C>G PMS2(NM_000535.5):c.*17G>C - PMS2_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 15 c.*17G>C r.(=) p.(=) Unknown - VUS g.6013013C>G g.5973382C>G 1621G>A (E541K) - PMS2_000042 - PubMed: Clendenning 2006 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
?/. 15 c.*17G>C r.(=) p.(=) Unknown - VUS g.6013013C>G g.5973382C>G - - PMS2_000042 - PubMed: Clendenning 2006 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
?/. 15 c.*17G>C r.(=) p.(=) Unknown - VUS g.6013013C>G g.5973382C>G - - PMS2_000042 - PubMed: Clendenning 2006 - - Germline - - - 0 - DNA ? - - cancer, endometrial - - - ? - - - - 0 - - 1 Michael Woods
?/. 15 c.*17G>C r.(=) p.(=) Unknown - VUS g.6013013C>G g.5973382C>G - - PMS2_000042 - PubMed: Clendenning 2006 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
-?/. - c.*22A>G r.(=) p.(=) Unknown - likely benign g.6013008T>C g.5973377T>C - - PMS2_000428 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 15 c.*34G>A r.(=) p.(=) Unknown - VUS g.6012996C>T g.5973365C>T c.*34G>A - PMS2_000365 - - - - Germline - - - 0 - DNA SEQ - - - - - - - - - - - 0 - - 1 Thomas Hansen
-?/. - c.*3G>A r.(=) p.(=) Unknown - likely benign g.6013027C>T g.5973396C>T - - PMS2_000429 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. 15 c.*92dup r.(=) p.(=) Parent #1 - benign g.6012939dup g.5973308dup - - PMS2_000043 - - - - Germline - - - 0 - DNA SEQ - - - - - - - - Germany - - 0 - - 1 Andreas Laner
-/- 15 c.*92dup r.(?) p.(=) Unknown - benign g.6012939dup g.5973308dup - - PMS2_000043 Insight class: 1 - - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 15 c.*92dup r.(=) p.(=) Unknown - VUS g.6012939dup g.5973308dup - - PMS2_000043 - PubMed: Clendenning 2006 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
?/. 15 c.*92dup r.(=) p.(=) Unknown - VUS g.6012939dup g.5973308dup 780G>C (S260S), 1621G>A (E541K) - PMS2_000043 - PubMed: Clendenning 2006 - - Germline - - - 0 - DNA ? - - cancer, endometrial - - - ? - - - - 0 - - 1 Michael Woods
?/. 15 c.*92dup r.(=) p.(=) Unknown - VUS g.6012939dup g.5973308dup 1621G>A (E541K) - PMS2_000043 - PubMed: Clendenning 2006 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
?/. 15 c.*92dup r.(=) p.(=) Unknown - VUS g.6012939dup g.5973308dup - - PMS2_000043 - PubMed: Clendenning 2006 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
?/. 15 c.*92dup r.(=) p.(=) Unknown - VUS g.6012939dup g.5973308dup - - PMS2_000043 - PubMed: Clendenning 2006 - - Germline - - - 0 - DNA ? - - cancer, endometrial - - - ? - - - - 0 - - 1 Michael Woods
?/. 15 c.*92dup r.(=) p.(=) Unknown - VUS g.6012939dup g.5973308dup 780G>C (Ser260Ser) - PMS2_000043 - PubMed: Clendenning 2006 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
?/. 15 c.*92dup r.(=) p.(=) Unknown - VUS g.6012939dup g.5973308dup - - PMS2_000043 - PubMed: Clendenning 2006 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
+/+ 10i_15_ c.1145-1350_*20545del r.? p.? Unknown - pathogenic g.5992485_6028601del g.5952854_5988970del - - PMS2_000334 Insight class: 5 - - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 11_15 c.1145-1350_*20545del r.? p.? Unknown - pathogenic g.5992485_6028601del g.5952854_5988970del g.54564-54582_41826-41844del - PMS2_000334 - PubMed: van der Klift 2005, PubMed: Hendriks 2006; PubMed: van der Klift 2010 - - Germline - - - 0 - DNA PCR, SEQ, Southern - - CRC - - - F - Netherlands - - 0 - - 1 Carli Tops
?/. 11 c.1875A>Y r.(?) p.(Leu625Phe) Unknown - VUS g.6026521T>R - Leu625Phe - PMS2_000227 Idenitified in MCF-10F breast epithelial transform cells. Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message. PubMed: Balogh 2003 - - Somatic - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
+/. 11 g.[6027030_6027251del;6027252_6945161inv;6839984_6945161dup] r.? p.? Paternal (inferred) - pathogenic g.[6027030_6027251del;6027252_6945161inv;6839984_6945161dup] - - - PMS2_000326 - - - - Unknown - - - 0 - DNA, RNA arrayCNV, MLPA, PCR - - cancer, brain - - - M - - - - 0 pedigree - 1 Julia Vogt
+/. 11 g.[6027030_6027251del;6027252_6945161inv;6839984_6945161dup] r.? p.? Maternal (inferred) - pathogenic g.[6027030_6027251del;6027252_6945161inv;6839984_6945161dup] - - - PMS2_000326 - - - - Unknown - - - 0 - DNA, RNA arrayCNV, MLPA, PCR - - cancer, brain - - - M - - - - 0 pedigree - 1 Julia Vogt
+?/. 1-10 c.(?_-30100)_(144+1_145-1)del r.(?) p.(?) Unknown ACMG likely pathogenic g.(?) - - - EZH2_000001 Deletion PMS2 E1-E10; NG_008466.1(NM_000535.5):c.(?_-30100)_(144+1_145-1)del - - - Germline ? - - 0 - DNA MLPA, SEQ-NG-I germline - HNPCC 49738 - - F ? Germany german - 0 - - 1 Andreas Laner
-/- _1 c.-2559T>A r.(?) p.(=) Unknown - benign g.6051209A>T g.6011578A>T - - PMS2_000158 Insight class: 1 - - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. _1 c.-2559T>A r.(=) p.(=) Unknown - VUS g.6051209A>T g.6011578A>T - - PMS2_000158 -2472 from transcription start site PubMed: Jeske 2008 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
-/- _1 c.-2146C>A r.(?) p.(=) Unknown - benign g.6050796G>T g.6011165G>T - - PMS2_000136 Insight class: 1 - - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. _1 c.-2146C>A r.(=) p.(=) Unknown - VUS g.6050796G>T g.6011165G>T - - PMS2_000136 -2059 from the transcription start site PubMed: Jeske 2008 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
?/? _1 c.-963A>G r.(?) p.(=) Unknown - VUS g.6049613T>C g.6009982T>C - - PMS2_000199 Insight class: 3 - - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. _1 c.-963A>G r.(?) p.(=) Unknown - VUS g.6049613T>C g.6009982T>C - - PMS2_000199 -876 from the transcription start site; allele possibly playing a functional role in familial hyperaldosteronism type II (FH-II) PubMed: Jeske 2008 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
?/? _1 c.-340G>T r.(?) p.(=) Unknown - VUS g.6048990C>A g.6009359C>A - - PMS2_000001 Insight class: 3 - - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. _1 c.-340G>T r.(?) p.(=) Unknown - VUS g.6048990C>A g.6009359C>A - - PMS2_000001 - PubMed: Hendriks 2006 - - Germline - - - 0 - DNA SEQ - - CRC - - - ? - - - - 0 - - 1 Juul Wijnen
-/- _1 c.-323G>T r.(?) p.(=) Unknown - benign g.6048973C>A g.6009342C>A - - PMS2_000002 Insight class: 1 - - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. _1 c.-323G>T r.(=) p.(=) Unknown - VUS g.6048973C>A g.6009342C>A - - PMS2_000002 - PubMed: Hendriks 2006 - - Germline - - - 0 - DNA SEQ - - CRC - - - ? - - - - 0 - - 1 Juul Wijnen
-/- _1 c.-195T>C r.(?) p.(=) Unknown - benign g.6048845A>G g.6009214A>G - - PMS2_000003 Insight class: 1 - - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. _1 c.-195T>C r.(=) p.(=) Unknown - VUS g.6048845A>G g.6009214A>G - - PMS2_000003 - PubMed: Hendriks 2006 - - Germline - - - 0 - DNA SEQ - - CRC - - - ? - - - - 0 - - 1 Juul Wijnen
?/. _1 c.-195T>C r.(=) p.(=) Unknown - VUS g.6048845A>G g.6009214A>G - - PMS2_000003 - PubMed: Thompson 2004 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
-/- _1 c.-154C>G r.(?) p.(=) Unknown - benign g.6048804G>C g.6009173G>C - - PMS2_000004 Insight class: 1 - - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. 1 c.-154C>G r.(?) p.(=) Parent #1 - benign g.6048804G>C g.6009173G>C - - PMS2_000004 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - 0 - - 1 Angela Solano & F Cardoso
-/. 1 c.-154C>G r.(?) p.(=) Parent #1 - benign g.6048804G>C g.6009173G>C - - PMS2_000004 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - 0 - - 1 Angela Solano & F Cardoso
-/. 1 c.-154C>G r.(?) p.(=) Parent #1 - benign g.6048804G>C g.6009173G>C - - PMS2_000004 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - 0 - - 1 Angela Solano & F Cardoso
-/. 1 c.-154C>G r.(?) p.(=) Parent #1 - benign g.6048804G>C g.6009173G>C - - PMS2_000004 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - 0 - - 1 Angela Solano & F Cardoso
?/. _1 c.-154C>G r.(=) p.(=) Unknown - VUS g.6048804G>C g.6009173G>C - - PMS2_000004 - PubMed: Hendriks 2006 - - Germline - - - 0 - DNA SEQ - - CRC - - - ? - - - - 0 - - 1 Juul Wijnen
?/. _1 c.-154C>G r.(=) p.(=) Unknown - VUS g.6048804G>C g.6009173G>C - - PMS2_000004 - PubMed: Thompson 2004 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
-/. - c.-154C>G r.(?) p.(=) Unknown - benign g.6048804G>C g.6009173G>C - - PMS2_000004 - - - - Germline - - - 0 - DNA SEQ-NG - - cancer, colon contributed by Dept. of Dr Vaccaro - - - - Argentina - - 0 - - 1 Carlos Vaccaro
-/. - c.-154C>G r.(?) p.(=) Unknown - benign g.6048804G>C g.6009173G>C - - PMS2_000004 - - - - Germline - - - 0 - DNA SEQ-NG - - cancer, colon contributed by Dept. of Dr Vaccaro - - - - Argentina - - 0 - - 1 Carlos Vaccaro
?/. _1 c.-120del r.(?) p.(=) Unknown - VUS g.6048773del g.6009142del - - PMS2_000052 - PubMed: Miyaki 1997 - - Somatic - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
?/? _1 c.-101A>G r.(?) p.(=) Unknown - VUS g.6048751T>C g.6009120T>C - - PMS2_000005 Insight class: 3 - - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. _1 c.-101A>G r.(?) p.(=) Unknown - VUS g.6048751T>C g.6009120T>C - - PMS2_000005 - PubMed: Hendriks 2006 - - Germline - - - 0 - DNA SEQ - - CRC - - - ? - - - - 0 - - 1 Juul Wijnen
-/- _1 c.-93G>A r.(?) p.(=) Unknown - benign g.6048743C>T g.6009112C>T - - PMS2_000241 Insight class: 1 - - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. _1 c.-93G>A r.(=) p.(=) Unknown - likely benign g.6048743C>T g.6009112C>T - - PMS2_000241 allele is trancsribed - - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - CRC - - - M - - North African - 0 - - 1 Carli Tops
-/. 1 c.-93G>C r.(?) p.(=) Parent #1 - benign g.6048743C>G g.6009112C>G - - PMS2_000448 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - 0 - - 1 Angela Solano & F Cardoso
-/. - c.-93G>T r.(?) p.(=) Unknown - benign g.6048743C>A - - - AIMP2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 1i_2i c.(?_-87)_(23+1_24-1)del r.0? p.0? Unknown - pathogenic g.(6045663_6048627)_(6048737_?)del - - - PMS2_000044 Insight class: 5 - - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 1 c.(?_-87)_(23+1_24-1)del r.(?) p.? Unknown - pathogenic g.(6045663_6048627)_(6048737_?)del - Deletion of Exon 1 - PMS2_000044 - PubMed: Senter 2008 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
+/+ _1_10i c.(?_-87)_(1144+1_1145-1)del r.0? p.0? Unknown - pathogenic g.(6027252_6029430)_(6048737_?)del - - - PMS2_000179 Insight class: 5 - - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. _1_10i c.(?_-87)_(1144+1_1145-1)del r.(?) p.? Unknown - pathogenic g.(6027252_6029430)_(6048737_?)del - del ex01-10 - PMS2_000179 - - - - Germline - - - 0 - DNA PCR, SEQ - - CRC - - - ? - Germany - - 0 - - 1 Peter Propping, Prof. Dr. med.
+/. _1_10i c.(?_-87)_(1144+1_1145-1)del r.(?) p.? Parent #1 - pathogenic g.(6027252_6029430)_(6048737_?)del - ex01_ex10del - PMS2_000179 - - - - Germline - - - 0 - DNA SEQ - - HNPCC - - - ? - Germany - - 0 - - 1 Beate Dr. Betz
+/. _1_12i c.(?_-87)_(2174+1_2175-1)del r.? p.? Unknown - pathogenic g.(6018328_6022454)_(6048737_?)del - c.-87-?_2174+?del/Del exon 1-12 - PMS2_000366 - - - - Germline - - - 0 - DNA SEQ - - - - - - - - - - - 0 - - 1 Thomas Hansen
+/. _1_14i c.(?_-87)_(2445+1_2446-1)del r.? p.? Unknown - pathogenic g.(6013174_6017218)_(6048737_?)del - c.-87-?_2445+?del /Deletion af exon 1-14 - PMS2_000367 - - - - Germline - - - 0 - DNA SEQ - - - - - - - - - - - 0 - - 1 Thomas Hansen
?/. 1 c.-77del r.(?) p.(=) Unknown - VUS g.6048727del g.6009096del - - PMS2_000374 - - - - Unknown - - - 0 - DNA SEQ-NG-I - - HNPCC - - - - - Brazil - - 0 - - 1 Courtney Forgeng
?/. 1 c.-53G>A r.(=) p.(=) Unknown - VUS g.6048703C>T g.6009072C>T c.-53G>A - PMS2_000375 - - - - Germline - - - 0 - DNA SEQ - - - - - - - - - - - 0 - - 1 Thomas Hansen
-?/. - c.-43A>G r.(?) p.(=) Unknown - likely benign g.6048693T>C g.6009062T>C - - AIMP2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 1 c.1A>G r.(?) p.(Met1?) Unknown - VUS g.6048650T>C g.6009019T>C - - PMS2_000256 - - - - Germline - - - 0 - DNA SEQ - - CRC - - adenocarcinoma colon and caecum 4x CRC in family (incl 2 in index), 3 confirmed PMS2-def (incl 2 in index), MSI-high M - Netherlands - - 0 - - 1 Arjen Mensenkamp
+?/. - c.1A>G r.(?) p.(Met1?) Unknown - likely pathogenic g.6048650T>C g.6009019T>C PMS2(NM_001322014.1):c.1A>G (p.M1?) - PMS2_000256 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. 1 c.1A>G r.(?) p.(Met1?) Parent #1 - likely pathogenic g.6048650T>C g.6009019T>C - - PMS2_000256 - PubMed: Senter 2008 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
+?/. 1 c.1A>G r.(?) p.(Met1?) Parent #1 - likely pathogenic g.6048650T>C g.6009019T>C - - PMS2_000256 - PubMed: Senter 2008 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
+?/. 1 c.1A>G r.(?) p.(Met1?) Parent #1 - likely pathogenic g.6048650T>C g.6009019T>C - - PMS2_000256 - PubMed: Senter 2008 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
+?/. 1 c.1A>G r.(?) p.(Met1?) Unknown - likely pathogenic g.6048650T>C g.6009019T>C - - PMS2_000256 - PubMed: Borras 2013 - - Germline - - - 0 - DNA SEQ - - cancer, endometrial - - - ? - - - - 0 - - 1 Gabriel Capella
Legend   How to query   « First ‹ Prev     1 2 3 4 5 6 7 8 9 10 11 ...     Next › Last »