All transcript variants in gene PMS2


Criteria used for classification are available from 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 We encourage submission of relevant unpublished information to assist in the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_000535.5 transcript reference sequence.

1785 entries on 18 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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     

Owner     
+/. 5i_6i c.(537+1_538-1)_(705+1_706-1) pathogenic r.? p? g.(6037055_6038738)_(6038907_6042083)del - - - PMS2_000293 - - - - Germline - - - 0 - José Luis Soto
?/. 11 c.1875A>Y VUS r.(?) p.(Leu625Phe) g.6026521T>R - Leu625Phe - PMS2_000227 Idenitified in MCF-10F breast epithelial transform cells. PubMed: Balogh 2003 - - Somatic - - - 0 - Michael Woods
+/. 11 g.[6027030_6027251del;6027252_6945161inv;6839984_6945161dup] pathogenic r.? p.? g.[6027030_6027251del;6027252_6945161inv;6839984_6945161dup] - - - PMS2_000326 - - - - Unknown - - - 0 - Julia Vogt
+/. 11 g.[6027030_6027251del;6027252_6945161inv;6839984_6945161dup] pathogenic r.? p.? g.[6027030_6027251del;6027252_6945161inv;6839984_6945161dup] - - - PMS2_000326 - - - - Unknown - - - 0 - Julia Vogt
-/- _1 c.-2559T>A benign r.(?) p.(=) g.6051209A>T g.6011578A>T - - PMS2_000158 Insight class: 1 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
?/. _1 c.-2559T>A VUS r.(=) p.(=) g.6051209A>T - - - PMS2_000158 -2472 from transcription start site PubMed: Jeske 2008 - - Germline - - - 0 - Michael Woods
-/- _1 c.-2146C>A benign r.(?) p.(=) g.6050796G>T g.6011165G>T - - PMS2_000136 Insight class: 1 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
?/. _1 c.-2146C>A VUS r.(=) p.(=) g.6050796G>T - - - PMS2_000136 -2059 from the transcription start site PubMed: Jeske 2008 - - Germline - - - 0 - Michael Woods
?/? _1 c.-963A>G VUS r.(?) p.(=) g.6049613T>C g.6009982T>C - - PMS2_000199 Insight class: 3 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
?/. _1 c.-963A>G VUS r.(?) p.(=) g.6049613T>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 - Michael Woods
?/? _1 c.-340G>T VUS r.(?) p.(=) g.6048990C>A g.6009359C>A - - PMS2_000001 Insight class: 3 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
?/. _1 c.-340G>T VUS r.(?) p.(=) g.6048990C>A - - - PMS2_000001 - PubMed: Hendriks 2006 - - Germline - - - 0 - Juul Wijnen
-/- _1 c.-323G>T benign r.(?) p.(=) g.6048973C>A g.6009342C>A - - PMS2_000002 Insight class: 1 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
?/. _1 c.-323G>T VUS r.(=) p.(=) g.6048973C>A - - - PMS2_000002 - PubMed: Hendriks 2006 - - Germline - - - 0 - Juul Wijnen
-/- _1 c.-195T>C benign r.(?) p.(=) g.6048845A>G g.6009214A>G - - PMS2_000003 Insight class: 1 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
?/. _1 c.-195T>C VUS r.(=) p.(=) g.6048845A>G - - - PMS2_000003 - PubMed: Hendriks 2006 - - Germline - - - 0 - Juul Wijnen
?/. _1 c.-195T>C VUS r.(=) p.(=) g.6048845A>G - - - PMS2_000003 - PubMed: Thompson 2004 - - Germline - - - 0 - Michael Woods
-/- _1 c.-154C>G benign r.(?) p.(=) g.6048804G>C g.6009173G>C - - PMS2_000004 Insight class: 1 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
-/. 1 c.-154C>G benign r.(?) p.(=) g.6048804G>C - - - PMS2_000004 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso
-/. 1 c.-154C>G benign r.(?) p.(=) g.6048804G>C - - - PMS2_000004 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso
-/. 1 c.-154C>G benign r.(?) p.(=) g.6048804G>C - - - PMS2_000004 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso
-/. 1 c.-154C>G benign r.(?) p.(=) g.6048804G>C - - - PMS2_000004 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso
?/. _1 c.-154C>G VUS r.(=) p.(=) g.6048804G>C - - - PMS2_000004 - PubMed: Hendriks 2006 - - Germline - - - 0 - Juul Wijnen
?/. _1 c.-154C>G VUS r.(=) p.(=) g.6048804G>C - - - PMS2_000004 - PubMed: Thompson 2004 - - Germline - - - 0 - Michael Woods
?/. _1 c.-120del VUS r.(?) p.(=) g.6048770del - - - PMS2_000052 - PubMed: Miyaki 1997 - - Somatic - - - 0 - Michael Woods
?/? _1 c.-101A>G VUS r.(?) p.(=) g.6048751T>C g.6009120T>C - - PMS2_000005 Insight class: 3 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
?/. _1 c.-101A>G VUS r.(?) p.(=) g.6048751T>C - - - PMS2_000005 - PubMed: Hendriks 2006 - - Germline - - - 0 - Juul Wijnen
-/- _1 c.-93G>A benign r.(?) p.(=) g.6048743C>T g.6009112C>T - - PMS2_000241 Insight class: 1 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
-?/. _1 c.-93G>A likely benign r.(=) p.(=) g.6048743C>T - - - PMS2_000241 allele is trancsribed - - - Germline - - - 0 - Carli Tops
-/. 1 c.-93G>C benign r.(?) p.(=) g.6048743C>G - - - PMS2_000448 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso
+/+ 1i_2i c.(?_-87)_(23+1_24-1)del pathogenic r.0? p.0? g.(6045663_6048627)_(6048737_?)del - - - PMS2_000044 Insight class: 5 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/. 1 c.(?_-87)_(23+1_24-1)del pathogenic r.(?) p.? g.(6045663_6048627)_(6048737_?)del - Deletion of Exon 1 - PMS2_000044 - PubMed: Senter 2008 - - Germline - - - 0 - Michael Woods
+/+ _1_10i c.(?_-87)_(1144+1_1145-1)del pathogenic r.0? p.0? g.(6027252_6029430)_(6048737_?)del - - - PMS2_000179 Insight class: 5 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/. _1_10i c.(?_-87)_(1144+1_1145-1)del pathogenic r.(?) p.? g.(6027252_6029430)_(6048737_?)del - del ex01-10 - PMS2_000179 - - - - Germline - - - 0 - Peter Propping, Prof. Dr. med.
+/. _1_10i c.(?_-87)_(1144+1_1145-1)del pathogenic r.(?) p.? g.(6027252_6029430)_(6048737_?)del - ex01_ex10del - PMS2_000179 - - - - Germline - - - 0 - Beate Dr. Betz
+/. _1_12i c.(?_-87)_(2174+1_2175-1)del pathogenic r.? p.? g.(6018328_6022454)_(6048737_?)del - c.-87-?_2174+?del/Del exon 1-12 - PMS2_000366 - - - - Germline - - - 0 - Thomas Hansen
+/. _1_14i c.(?_-87)_(2445+1_2446-1)del pathogenic r.? p.? g.(6013174_6017218)_(6048737_?)del - c.-87-?_2445+?del /Deletion af exon 1-14 - PMS2_000367 - - - - Germline - - - 0 - Thomas Hansen
+/+ _1_15_ c.(?_-87)_(*160_?)del pathogenic r.0? p.0? g.(?_6012870)_(6048737_?)del - - - PMS2_000007 Insight class: 5 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/. _1_15_ c.(?_-87)_(*160_?)del pathogenic r.(?) p.? g.(?_6012870)_(6048737_?)del - del ex1_15 - PMS2_000007 - PubMed: van der Klift 2005, PubMed: Hendriks 2006 - - Germline - - - 0 - Juul Wijnen
+/. _1_15_ c.(?_-87)_(*160_?)del pathogenic r.(?) p.? g.(?_6012870)_(6048737_?)del - Deletion of Exon 1-15 - PMS2_000007 - PubMed: Senter 2008; PubMed: Tomsic 2012 - - Germline - - - 0 - Michael Woods
+/. _1_15_ c.(?_-87)_(*160_?)del pathogenic r.(?) p.? g.(?_6012870)_(6048737_?)del - Deletion of Exon 1-15 - PMS2_000007 - PubMed: Senter 2008; PubMed: Tomsic 2012 - - Germline - - - 0 - Michael Woods
+/. _1_15_ c.(?_-87)_(*160_?)del pathogenic r.(?) p.? 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 - Michael Woods
+/. _1_15_ c.(?_-87)_(*160_?)del pathogenic r.(?) p.? g.(?_6012870)_(6048737_?)del - Deletion of PMS2 - PMS2_000007 - PubMed: Overbeek 2007; PubMed: Tomsic 2012 - - Germline - - - 0 - Michael Woods
+/. _1_15_ c.(?_-87)_(*160_?)del pathogenic r.(?) p.? g.(?_6012870)_(6048737_?)del - del ex 1-15, dupPMS2CL - PMS2_000007 - PubMed: van der Klift 2010 - - Germline - - - 0 - Carli Tops
+/. _1_15_ c.(?_-87)_(*160_?)del pathogenic r.(?) p.? g.(?_6012870)_(6048737_?)del - PMS2 exon 1-15 del - PMS2_000007 - PubMed: Thompson 2013; PubMed: Tomsic 2012; PubMed: Senter 2008 - - Germline - - - 0 - Mark Jenkins
+/. _1_15_ c.(?_-87)_(*160_?)del pathogenic r.(?) p.? g.(?_6012870)_(6048737_?)del - MLH1:c.198C>T; PMS2:c.(?_-87)_(*160_?)del - PMS2_000007 - Mark Jenkins - - Germline - - - 0 - INSiGHT group
+/. _1_15_ c.(?_-87)_(*160_?)del pathogenic r.? p.? g.(?_6012870)_(6048737_?)del - c.1-?_2586+?del Whole gene deletion - PMS2_000007 - PubMed: Lagerstedt-Robinson 2016 - - Germline - - - 0 - Kristina Lagerstedt Robinson
?/. 1 c.-77del VUS r.? p.? g.6048727del - - - PMS2_000374 - - - - Unknown - - - 0 - Barbara Luisa Soares
?/. 1 c.-53G>A VUS r.(=) p.(=) g.6048703C>T - c.-53G>A - PMS2_000375 - - - - Germline - - - 0 - Thomas Hansen
-?/. - c.-7T>C likely benign r.(=) p.(=) g.6048657A>G - AIMP2:NM_000535.5:c.-7T>C, NM_006303.3:c.-338A>G - PMS2_000425 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. 1 c.1A>G VUS r.? p.? g.6048650T>C g.6009019T>C - - PMS2_000256 - - - - Germline - - - 0 - Arjen Mensenkamp
+?/. - c.1A>G likely pathogenic r.? p.? g.6048650T>C - PMS2:NM_000535.5:c.1A>G (Met1Val) - PMS2_000256 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+?/. 1 c.1A>G likely pathogenic r.(?) p.? g.6048650T>C - - - PMS2_000256 - PubMed: Senter 2008 - - Germline - - - 0 - Michael Woods
+?/. 1 c.1A>G likely pathogenic r.(?) p.? g.6048650T>C - - - PMS2_000256 - PubMed: Senter 2008 - - Germline - - - 0 - Michael Woods
+?/. 1 c.1A>G likely pathogenic r.(?) p.? g.6048650T>C - - - PMS2_000256 - PubMed: Senter 2008 - - Germline - - - 0 - Michael Woods
+?/. 1 c.1A>G likely pathogenic r.(?) p.? g.6048650T>C - - - PMS2_000256 - PubMed: Borras 2013 - - Germline - - - 0 - Gabriel Capella
+?/. 1 c.1A>G likely pathogenic r.(?) p.? g.6048650T>C - c.1A>G - PMS2_000256 - Mark Jenkins; John Hopper - - Germline - - - 0 - INSiGHT group
+?/. 1 c.1A>G likely pathogenic r.(?) p.? g.6048650T>C - c.1A>G - PMS2_000256 - Mark Jenkins; John Hopper - - Germline - - - 0 - INSiGHT group
+/. 1 c.1A>G pathogenic r.(?) p.? g.6048650T>C - - - PMS2_000256 - Ian Berry, Leeds Genetics Laboratory - - Germline - - - 0 - Ian Berry
+?/. 1 c.1A>G likely pathogenic r.? p.Met1Val g.6048650T>C - c.1A>G - PMS2_000256 - - - - Germline - - - 0 - Thomas Hansen
+/. 1 c.1A>G pathogenic r.? p.0? g.6048650T>C - - - PMS2_000256 ICCON data, Westmead, NSW - - - Germline - - - 0 - InSiGHT - John-Paul Plazzer
+/+? - c.1A>G 4 r.? p.? g.6048650T>C - - - PMS2_000256 Insight class: 4 - - - Germline/De novo (untested) - - - 0 - Grigorij Yanus
+?/+? 1 c.2T>A likely pathogenic r.? p.? g.6048649A>T - - - PMS2_000017 ACMG grading: PVS1, PM2, PM3, PP4, PP5 class 5 (Literature:PMID 27476653; PMID 26681312; PMID 28466842) - - rs587780059 Germline ? - - 0 - Andreas Laner
?/. 1 c.2T>A VUS r.(?) p.0? g.6048649A>T - - - 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) PubMed: Haraldsdottir 2018 - - Germline - - - 0 - Sigurdis Haraldsdottir
?/. 1 c.2T>A VUS r.(?) p.Met1? g.6048649A>T - - - 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) PubMed: Haraldsdottir 2018 - - Germline - - - 0 - Sigurdis Haraldsdottir
?/. 1 c.2T>A VUS r.(?) p.Met1? g.6048649A>T - - - 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) PubMed: Haraldsdottir 2018 - - Germline - - - 0 - Sigurdis Haraldsdottir
+/. 1 c.3G>A pathogenic r.0? p.0? g.6048648C>T g.6009017C>T - - PMS2_000388 - - - - Germline - - - 0 - Andreas Laner
?/. 1 c.11C>G VUS r.(?) p.(Ala4Gly) g.6048640G>C - - - PMS2_000018 Carrier frequency in Iceland (%): 0.04; Odds ratio for CRC (95%CI): 2.64 (0.62-11.2) PubMed: Haraldsdottir 2018 - - Germline - 0.04 - 0 - Sigurdis Haraldsdottir
-?/. - c.21G>C likely benign r.(=) p.(=) g.6048630C>G - PMS2:c.21G>C (=) - PMS2_000424 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.23+10G>C benign r.(=) p.(=) g.6048618C>G - PMS2:c.23+10G>C - PMS2_000340 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-?/. - c.23+10G>C likely benign r.(=) p.(=) g.6048618C>G - PMS2:c.23+10G>C - PMS2_000340 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-?/. - c.23+10G>C likely benign r.(=) p.(=) g.6048618C>G - PMS2:c.23+10G>C - PMS2_000340 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-?/. - c.23+10G>C likely benign r.(=) p.(=) g.6048618C>G - PMS2:c.23+10G>C - PMS2_000340 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.23+10G>C benign r.(=) p.(=) g.6048618C>G - PMS2:NM_000535.5:c.23+10G>C - PMS2_000340 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. 1i c.23+10G>C likely benign r.(=) p.(=) g.6048618C>G - c.23+10G>C - PMS2_000340 - - - - Germline - - - 0 - Thomas Hansen
-/. 1i c.23+12T>C benign r.(=) p.(=) g.6048616A>G g.6008985A>G - - PMS2_000387 - - - - Germline - - - 0 - Andreas Laner
-/. - c.23+72C>T benign r.(=) p.(=) g.6048556G>A - PMS2:c.23+72C>T - PMS2_000423 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_NKI
?/. 1i c.23+72C>T VUS r.(?) p.(=) g.6048556G>A - - - PMS2_000423 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso
?/. 1i c.23+72C>T VUS r.(?) p.(=) g.6048556G>A - - - PMS2_000423 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso
?/. 1i c.23+72C>T VUS r.(?) p.(=) g.6048556G>A - - - PMS2_000423 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso
?/. 1i c.23+72C>T VUS r.(?) p.(=) g.6048556G>A - - - PMS2_000423 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso
?/. 1i c.23+72C>T VUS r.(?) p.(=) g.6048556G>A - - - PMS2_000423 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso
?/. 1i c.23+72C>T VUS r.(?) p.(=) g.6048556G>A - - - PMS2_000423 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso
?/. 1i c.23+72C>T VUS r.(?) p.(=) g.6048556G>A - - - PMS2_000423 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso
?/. 1i c.23+72C>T VUS r.(?) p.(=) g.6048556G>A - - - PMS2_000423 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso
?/. 1i c.23+72C>T VUS r.(?) p.(=) g.6048556G>A - - - PMS2_000423 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso
?/. 1i c.23+72C>T VUS r.(?) p.? g.6048556G>A - c.23+72C>T - PMS2_000423 WT MaxEntScan score: 8.7; Variant MaxEntScan score: 8.7; Difference in MaxEntScan score between variant and WT (%): 0 InSiGHT, PubMed: Rossi 2017 - - Germline - - - 0 - Mev Dominguez Valentin
+/. - c.24-12_107delinsAAAT pathogenic r.? p.? g.6045579_6045674delinsATTT - PMS2:NM_000535.5:c.24-12_107delinsAAAT (?) - PMS2_000205 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/. 1i_2 c.24-12_107delinsAAAT pathogenic r.24_163del p.Ser8Argfs*5 g.6045579_6045674delinsATTT - - - PMS2_000205 96bp deletion across intron1-exon2 border PubMed: van der Klift 2010 - - Germline - - - 0 - Carli Tops
+/. 1i_2 c.24-12_107delinsAAAT pathogenic r.24_163del p.Ser8Argfs*5 g.6045579_6045674delinsATTT - - - PMS2_000205 96bp deletion across intron1-exon2 border PubMed: van der Klift 2010 - - Germline - - - 0 - Carli Tops
+/. 1i_2 c.24-12_107delinsAAAT pathogenic r.(?) p.?/(p.Ser8ArgfsX5) g.6045579_6045674delinsATTT - c.24-12_107delinsAAAT - PMS2_000205 96bp deletion acros intron1-exon2 border Carli Tops - - Germline - - - 0 - INSiGHT group
+/. 1i_2 c.24-12_107delinsAAAT pathogenic r.(?) p.?/(p.Ser8ArgfsX5) g.6045579_6045674delinsATTT - c.24-12_107delinsAAAT - PMS2_000205 96bp deletion acros intron1-exon2 border Carli Tops - - Germline - - - 0 - INSiGHT group
+/. 1i_2 c.24-12_107delinsAAAT pathogenic r.(?) p.?/(p.Ser8ArgfsX5) g.6045579_6045674delinsATTT - c.24-12_107delinsAAAT - PMS2_000205 - Carli Tops - - Germline - - - 0 - INSiGHT group
+/. 1i_2 c.24-12_107delinsAAAT pathogenic r.(?) p.?/(p.Ser8ArgfsX5) g.6045579_6045674delinsATTT - c.24-12_107delinsAAAT - PMS2_000205 - Carli Tops - - Germline - - - 0 - INSiGHT group
+/. 1i_2 c.24-12_107delinsAAAT pathogenic r.(?) p.?/(p.Ser8ArgfsX5) g.6045579_6045674delinsATTT - c.24-12_107delinsAAAT - PMS2_000205 - Carli Tops - - Germline - - - 0 - INSiGHT group
+/. 1i_2 c.24-12_107delinsAAAT pathogenic r.(?) p.? g.6045579_6045674delinsATTT - PMS2:c.24-12_107delinsAAAT - PMS2_000205 - Fiona Lalloo - - Germline - - - 0 - INSiGHT group
+/. 1i_2 c.24-12_107delinsAAAT pathogenic r.? p.? g.6045579_6045674delinsATTT - - - PMS2_000205 ICCON data, Westmead, NSW - - - Germline - - - 0 - InSiGHT - John-Paul Plazzer
+/. - c.24-?_988+?del pathogenic r.(?) p.? g.6031604_6045662del - Deletion exons 2–9 - PMS2_000457 - PubMed: Lagerstedt-Robinson 2016 - - Germline - - - 0 - Kristina Lagerstedt Robinson
+/. - c.24-?_988+?del pathogenic r.(?) p.? g.6031604_6045662del - Deletion exons 2–9 - PMS2_000457 - PubMed: Lagerstedt-Robinson 2016 - - Germline - - - 0 - Kristina Lagerstedt Robinson
+/. - c.24-?_988+?del pathogenic r.(?) p.? g.6031604_6045662del - Deletion exons 2–9 - PMS2_000457 - PubMed: Lagerstedt-Robinson 2016 - - Germline - - - 0 - Kristina Lagerstedt Robinson
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