Unique variants in gene PMS2

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

358 entries on 4 pages. Showing entries 1 - 100.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

Published as     

RNA change     

Protein     

InSiGHT Class     

Splicing/transcript expression     

DNA change (genomic) (hg19)     

Published as     

Reference     

DB-ID     

Frequency     

Variant remarks     

Genetic origin     

Segregation     

Owner     
?/? 1 10 c.1004A>T - r.(?) p.(Asn335Ile) - - 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) - Sigurdis Haraldsdottir
?/? 1 1 c.11C>G - r.(?) p.(Ala4Gly) - - 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) - Sigurdis Haraldsdottir
?/? 1 11 c.1437C>G - r.(?) p.(His479Gln) Class 3 - 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) - Sigurdis Haraldsdottir
?/? 1 11 c.1450C>A - r.(?) p.(Pro484Thr) - - 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) - Sigurdis Haraldsdottir
?/? 1 11 c.1552G>A - r.(?) p.(Glu518Lys) - - 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) - Sigurdis Haraldsdottir
?/? 1 11 c.1981G>A - r.(?) p.(Glu661Lys) - - 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) - Sigurdis Haraldsdottir
?/? 1 12 c.2113G>A - r.(?) p.(Glu705Lys) Class 3 - g.6022516C>T - Haraldsdottir et al. Accepted into Nature Communications PMS2_000135 - Found in 1 patient Germline (inherited) - Sigurdis Haraldsdottir
?/? 1 3 c.211_214del - r.(?) p.(Asn71Aspfs*4) - - g.6043639_6043642del - Haraldsdottir et al. Accepted into Nature Communications PMS2_000312 - Found in 1 patient Germline (inherited) - Sigurdis Haraldsdottir
?/? 3 1 c.2T>A - r.(?) p.0?, p.Met1? - - g.6048649A>T - Haraldsdottir et al. Accepted into Nature Communications PMS2_000017 - 1 more item Germline (inherited) - Sigurdis Haraldsdottir
?/? 1 5 c.475G>A - r.(?) p.(Val159Met) - - 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) - Sigurdis Haraldsdottir
?/-? 1 2 c.52A>G - r.(?) p.(Ile18Val) Class 2 - 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) - Sigurdis Haraldsdottir
+/? 12 7 c.736_741delinsTGTGTGTGAAG - r.(?) p.(Pro246Cysfs*3), p.Pro246Cysfs*3 - - g.6037019_6037024delinsCTTCACACACA - Haraldsdottir et al. Accepted into Nature Communications PMS2_000187 - 1 more item Germline (inherited) - Sigurdis Haraldsdottir
?/? 1 8 c.898G>C - r.(?) p.(Ala300Pro) - - 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) - Sigurdis Haraldsdottir
+/. 1 - c.(1144+1_1145 -1)_(2006+1_2007-1)dup duplication exons 11-12 r.(?) p.? - - g.6026390-?_6027251+?dup - 1 more item chr7_000029 - - Germline (inherited) - Stephanie Baert-Desurmont
?/? 4 10i_15_ c.(1144+1_1145-1)_(*160_?)del c.1145-?_2589+?del r.(?) p.Gly382_X863del N/A - g.(?_6012870)_(6027252_6029430)del - {microatt:1002690, Carli Tops}, {microatt:1002691, Carli Tops}, {microatt:1002692, Carli Tops}, 1 more item PMS2_000270 - del ex 11_15, 36116 nt Germline (inherited) - InSiGHT group
+/+ 1 4i_15_ c.(353+1_354-1)_(*160_?)del del ex (3-)5-15 r.(?) p.? Class 5 - 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) - Carli Tops
+/? 1 5i_6i c.(537+1_538-1)_(705+1_706-1) - r.? p? - - g.(6037055_6038738)_(6038907_6042083)del - - PMS2_000293 - - Germline (inherited) - José Luis Soto
?/+ 3 8i_15_ c.(903+1_904-1)_(*160_?)del - r.(?) p.? Class 5 - g.(?_6012870)_(6031689_6035164)del - Will et al., 2007 PMS2_000197 - 2 more items Germline (inherited) - Michael Woods
?/+ 1 9i_15_ c.(988+1_989-1)_(*160_?)del - r.(?) p.? Class 5 - g.(?_6012870)_(6029587_6031603)del - Borras et al., 2013 PMS2_000248 - - Germline (inherited) - Gabriel Capellá
+/+, ?/+ 9 _1_15_ c.(?_-87)_(*160_?)del del ex1_15, Deletion of Exon 1-15, c.1-?_2586+?del Whole gene deletion, Deletion of PMS2, 4 more items r.(?) p.? Class 5 - g.(?_6012870)_(6048737_?)del, g.6012870_6048737del - van der Klift et al., 2005, Hendriks et al., 2006, Senter et al., 2008; Tomsic et al., 2012, 6 more items PMS2_000007, chr7_000018 - - Germline (inherited) - Juul Wijnen, Michael Woods, Kristina Lagerstedt Robinson, Carli Tops, Mark Jenkins, InSiGHT group
+/+ 2 _1_10i c.(?_-87)_(1144+1_1145-1)del del ex01-10, ex01_ex10del r.(?) p.? Class 5 - g.(6027252_6029430)_(6048737_?)del - - PMS2_000179 - - Germline (inherited) - Prof. Dr. med. Peter Propping, Beate Dr. Betz
?/+ 1 1 c.(?_-87)_(23+1_24-1)del Deletion of Exon 1 r.(?) p.? Class 5 - g.(6045663_6048627)_(6048737_?)del - Senter et al., 2008 PMS2_000044 - - Germline (inherited) - Michael Woods
?/- 4 15 c.*17G>C 1621G>A (E541K) r.(=) p.(=) Class 1 - g.6013013C>G - Clendenning et al., 2006 PMS2_000042 - - Germline (inherited) - Michael Woods
?/- 7 15 c.*92dup 780G>C (S260S), 1621G>A (E541K), 1621G>A (E541K), 780G>C (Ser260Ser) r.(=) p.(=) Class 1 - g.6012938dup - Clendenning et al., 2006 PMS2_000043 - - Germline (inherited) - Michael Woods
?/+ 1 11_15 c.1145-1350_*20545del g.54564-54582_41826-41844del r.? p.? Class 5 - g.5992485_6028601del - van der Klift et al., 2005, Hendriks et al., 2006; van der Klift et al., 2010 PMS2_000334 - - Germline (inherited) - Carli Tops
?/? 1 11 c.1875A>Y Leu625Phe r.(?) p.(Leu625Phe) N/A - g.6026521T>R - Balogh et al., 2003 PMS2_000227 - Idenitified in MCF-10F breast epithelial transform cells. Somatic - Michael Woods
+/? 2 11 g.[6027030_6027251del;6027252_6945161inv;6839984_6945161dup] - r.? p.? - - g.[6027030_6027251del;6027252_6945161inv;6839984_6945161dup] - - PMS2_000326 - - Unknown - Julia Vogt
?/- 1 _1 c.-2559T>A - r.(=) p.(=) Class 1 - g.6051209A>T - Jeske et al., 2008 PMS2_000158 - -2472 from transcription start site Germline (inherited) - Michael Woods
?/- 1 _1 c.-2146C>A - r.(=) p.(=) Class 1 - g.6050796G>T - Jeske et al., 2008 PMS2_000136 - -2059 from the transcription start site Germline (inherited) - Michael Woods
?/? 1 _1 c.-963A>G - r.(?) p.(=) Class 3 - g.6049613T>C - Jeske et al., 2008 PMS2_000199 - 1 more item Germline (inherited) - Michael Woods
?/? 1 _1 c.-340G>T - r.(?) p.(=) Class 3 - g.6048990C>A - Hendriks et al., 2006 PMS2_000001 - - Germline (inherited) - Juul Wijnen
?/- 1 _1 c.-323G>T - r.(=) p.(=) Class 1 - g.6048973C>A - Hendriks et al., 2006 PMS2_000002 - - Germline (inherited) - Juul Wijnen
?/- 2 _1 c.-195T>C - r.(=) p.(=) Class 1 - g.6048845A>G - Hendriks et al., 2006, Thompson et al., 2004 PMS2_000003 - - Germline (inherited) - Juul Wijnen, Michael Woods
?/- 2 _1 c.-154C>G - r.(=) p.(=) Class 1 - g.6048804G>C - Hendriks et al., 2006, Thompson et al., 2004 PMS2_000004 - - Germline (inherited) - Juul Wijnen, Michael Woods
?/? 1 _1 c.-120del - r.(?) p.(=) N/A - g.6048770del - Miyaki et al., 1997 PMS2_000052 - - Somatic - Michael Woods
?/? 1 _1 c.-101A>G - r.(?) p.(=) Class 3 - g.6048751T>C - Hendriks et al., 2006 PMS2_000005 - - Germline (inherited) - Juul Wijnen
-?/- 1 _1 c.-93G>A - r.(=) p.(=) Class 1 - g.6048743C>T - - PMS2_000241 - allele is trancsribed Germline (inherited) - Carli Tops
+/. 1 _1_12i c.(?_-87)_(2174+1_2175-1)del c.-87-?_2174+?del/Del exon 1-12 r.? p.? Not classified - g.(6018328_6022454)_(6048737_?)del - - PMS2_000366 - - Germline (inherited) - Thomas v. O. Hansen
+/. 1 _1_14i c.(?_-87)_(2445+1_2446-1)del c.-87-?_2445+?del /Deletion af exon 1-14 r.? p.? Not classified - g.(6013174_6017218)_(6048737_?)del - - PMS2_000367 - - Germline (inherited) - Thomas v. O. Hansen
?/. 1 1 c.-77delC - r.? p.? - - g.6048727delC - - PMS2_000374 - - Unknown - BARBARA LUISA SOARES
?/. 1 1 c.-53G>A c.-53G>A r.(=) p.(=) Not classified - g.6048703C>T - - PMS2_000375 - - Germline (inherited) - Thomas v. O. Hansen
?/+?, +/+?, +/? 9 1 c.1A>G c.1A>G r.?, r.(?) p.Met1Val, p.?, p.0? Class 4 - g.6048650T>C - Senter et al., 2008, Borras et al., 2013, {microatt:1000399, Mark Jenkins; John Hopper}, 2 more items PMS2_000256 - ICCON data, Westmead, NSW Germline (inherited) - Thomas v. O. Hansen, Michael Woods, Gabriel Capellá, InSiGHT group, Ian Berry, John Paul Plazzer
-?/. 1 1i c.23+10G>C c.23+10G>C r.(=) p.(=) Not classified - g.6048618C>G - - PMS2_000340 - - Germline (inherited) - Thomas v. O. Hansen
?/. 1 1i c.23+72C>T c.23+72C>T r.(?) p.? - - g.6048556G>A - InSiGHT, Rossi et al. 2017 chr7_000001 - 1 more item Germline (inherited) - MEV DOMINGUEZ VALENTIN
+/+, ?/+ 8 1i_2 c.24-12_107delinsAAAT c.24-12_107delinsAAAT, PMS2:c.24-12_107delinsAAAT r.24_163del, r.(?) p.Ser8Argfs*5, p.?/(p.Ser8ArgfsX5), p.? Class 5 - g.6045579_6045674delinsATTT - van der Klift et al., 2010, {microatt:1002659, Carli Tops}, {microatt:1002660, Carli Tops}, 4 more items PMS2_000205 - 96bp deletion across intron1-exon2 border, 96bp deletion acros intron1-exon2 border Germline (inherited) - Carli Tops, InSiGHT group
+/? 1 1i_2 c.24-12_107delinsAAAT - r.? p.? - - g.6045579_6045674delinsATTT - - PMS2_000205 - ICCON data, Westmead, NSW Germline (inherited) - John Paul Plazzer
?/+ 1 1i_2i c.(23+1_24-1)_(163+1_164-1)del Deletion of Exon 2 r.(?) p.(Ser8Argfs*5) Class 5 - g.(6043690_6045522)_(6045663_6048627)del - Senter et al., 2008 PMS2_000148 - - Germline (inherited) - Michael Woods
+/. 4 - c.24-?_988+?del Deletion exons 2–9 r.(?) p.? - - g.6031604_6045662del - Lagerstedt-Robinson et al. 2016 chr7_000019 - - Germline (inherited) - Kristina Lagerstedt Robinson
-/-?, ?/-?, -?/-?, ./-? 14 2 c.52A>G c.52A>G, 780G>C (Ser260Ser), 780G>C, 780G>C (S260S), 1621G>A (E541K), 1 more item r.(?), r.? p.Ile18Val, p.(Ile18Val) Class 2 - g.6045634T>C - Hendriks et al., 2006, Clendenning et al., 2006, {microatt:1000494, Mark Jenkins; John Hopper}, 3 more items PMS2_000009 - based on population freq, 2 more items Germline (inherited), Unknown - Thomas v. O. Hansen, Juul Wijnen, Carli Tops, Michael Woods, InSiGHT group, Jack Ji
?/? 1 2 c.53T>C c.53T>C r.? p.(Ile18Thr) - - g.6045633A>G - - PMS2_000295 - - Germline (inherited) - Carli Tops
./-, -/-, ?/-, +/- 35 2 c.59G>A c.59G>A, G>A at 59, 1621G>A (E541K), 780G>C (Ser260Ser), p.Arg20Gln, 1 more item r.(?), r.?, r.(=) p.Arg20Gln, p.(Arg20Gln) Class 1 - g.6045627C>T - Drost et al, 2013, Hendriks et al., 2006, Liu et al., 1995, {dbSNP10254120}, {dbSNP10254120}, 4 more items PMS2_000008 0.11 2 more items Germline (inherited), Unknown, In vitro (cloned) - Jack Ji, Thomas v. O. Hansen, InSiGHT group, Juul Wijnen, Michael Woods, John Paul Plazzer, Gabriel Capellá
?/. 1 2 c.59G>C - r.(?) p.(Arg20Pro) - - g.6045627C>G - - PMS2_000372 - - Unknown ? sira moreno
?/. 3 2 c.86G>C c.86C>G r.(?) p.(Gly29Ala) - - g.6045600C>G - InSiGHT Variant Interpretation Committee April 2016 PMS2_000370 - 2 more items Germline (inherited) - Elke Holinski-Feder
?/? 1 2 c.122A>C c.122A>C r.? p.(Glu41Ala) N/A - g.6045564T>G - Drost et al, 2013 PMS2_000290 - 1 more item Unknown - InSiGHT group
?/? 4 2 c.137G>A c.137G>A r.?, r.(?) p.(Ser46Asn) Class 3 - g.6045549C>T - Drost et al, 2013, Jackson et al., 2008, Senter et al., 2008, 1 more item PMS2_000060 - 2 more items Unknown, Germline (inherited) - InSiGHT group, Michael Woods
?/+?, +/?, +/+? 28 2 c.137G>T c.137G>T, 161G>T, 780G>C (S260S), 1621G>A (E541K), missense variants or in frame indels r.?, r.(?), r.137g>u p.(Ser46Ile), p.Ser46Ile Class 4 - g.6045549C>A - Drost et al, 2013, Jackson et al., 2008, Senter et al., 2008, Clendenning et al., 2006, 12 more items PMS2_000061 - Submitted by ICCon – South Australia, ICCON data, Royal Prince Alfred/Liverpool, NSW, 4 more items Unknown, Germline (inherited) - InSiGHT group, ICCon, John Paul Plazzer, Michael Woods, Carli Tops, Gabriel Capellá, Demetra Georgiou, Ian Berry, Stephanie Baert-Desurmont
-?/? 1 2 c.139C>T p.(Leu47Leu) r.= p.(=) - - g.6045547G>A - van der Klift et al., 2015 PMS2_000298 - patient RNA: no effect on splicing. Minigene: no effect on splicing Unknown - Carli Tops
+/+? 1 2i c.163+2T>C - r.24_163del p.Ser8Argfs*5 Class 4 - g.6045521A>G - van der Klift et al., 2010, van der Klift et al., 2015 PMS2_000206 - 1 more item Germline (inherited) - Carli Tops
+/. 1 2i c.163+5G>A c.163+5G>A r.spl? p.? Not classified - g.6045518C>T - - PMS2_000341 - - Germline (inherited) - Thomas v. O. Hansen
?/+, +/+ 6 2i_7i c.164-518_803+252delinsCG c.164-518_803+252del7501insCG, del ex 3-7 r.(?), r.164_803del p.? Class 5 - g.6036705_6044207delinsCG - {microatt:1002667, Carli Tops}, {microatt:1002668, Carli Tops}, {microatt:1002669, Carli Tops}, 3 more items PMS2_000208 - del ex 3-7 Germline (inherited) - InSiGHT group, Carli Tops
./? 15 2i c.164-108G>C - r.(=) p.(=) - - g.6043797C>G - - PMS2_000336 - - Germline (inherited) - Jack Ji
?/+? 1 2i c.164-2A>G c.[164-2A>G;384G>A] r.164_171del p.Asp55Alafs*2 Class 4 - g.6043691T>C - Borras et al., 2013 PMS2_000244 - - Germline (inherited) - Gabriel Capellá
+?/. 1 - c.164-1G>A - r.(?) p.? - - g.6043690C>T - 1 more item chr7_000028 - - Germline (inherited) - Stephanie Baert-Desurmont
?/? 3 2i_7i c.(163+1_164-1)_(803+1_804-1)del del ex 3-7 r.(?) p.? N/A - g.(6035265_6036956)_(6043690_6045522)del - {microatt:1002664, Carli Tops}, {microatt:1002665, Carli Tops}, {microatt:1002666, Carli Tops} PMS2_000266 - del ex 3-7 Germline (inherited) - InSiGHT group
-?/-?, ?/-? 6 3 c.180C>G c.180C>G r.(?), r.?, r.180C>G p.Asp60Glu, p.(Asp60Glu) Class 2 - g.6043673G>C - Drost et al, 2013, van der Klift et al., 2015, {microatt:1000460, Mark Jenkins; John Hopper}, 1 more item PMS2_000239 - Minigene: no aberrant splicing. No patient RNA available., 1 more item Germline (inherited), Unknown - Thomas v. O. Hansen, InSiGHT group, Carli Tops
?/+ 3 3 c.182del - r.(?) p.(Tyr61Leufs*15) Class 5 - g.6043671del - Etzler et al., 2008 PMS2_000122 - signs of NF1, signs of NF2 Germline (inherited) - Michael Woods
?/? 1 3 c.197T>C - r.197u>c p.Ile66Thr - - g.6043656A>G - van der Klift et al., in prep PMS2_000319 - patient RNA : no allelic imballance Unknown - Carli Tops
+/? 1 3 c.211_214del - r.? p.(Asn71Aspfs*4) - - g.6043639_6043642del - - PMS2_000312 - - Unknown - Hans Gille
?/. 1 3 c.215G>A - r.(?) p.(Gly72Glu) - - g.6043638C>T - Pearlman et al, 2017 PMS2_000376 - - Germline (inherited) - John Paul Plazzer
+/+, ?/+ 12 3 c.219_220dup c.219_220dup, PMS2:c.219_220dup r.0, r.(?) p.(Gly74Valfs*3), p.Gly74ValfsX3, p.? Class 5 - g.6043633_6043634dup - van der Klift et al., 2010, {microatt:1002672, Carli Tops}, {microatt:1002673, Carli Tops}, 9 more items PMS2_000176 - - Germline (inherited) - Carli Tops, InSiGHT group
-?/. 1 3 c.240C>T c.240C>T r.(=) p.(=) Not classified - g.6043613G>A - - PMS2_000342 - - Germline (inherited) - Thomas v. O. Hansen
+/? 1 3 c.247_250dup - r.247_250dup p.(Thr84Ilefs*9) - - g.6043603_6043606dup - van der Klift et al., in prep. PMS2_000314 - patient RNA: non sense mediated decay Unknown - Carli Tops
?/. 1 3i c.250+24A>G c.250+24A>G r.(=) p.(=) Not classified - g.6043579T>C - - PMS2_000343 - - Germline (inherited) - Thomas v. O. Hansen
?/- 1 2i c.251-72A>G - r.(=) p.(=) Class 1 - g.6043495T>C - Hendriks et al., 2006 PMS2_000012 - - Germline (inherited) - Juul Wijnen
?/. 2 3i c.251-20T>G c.251-20T>G r.(=) p.(=) Not classified - g.6043443A>C - - PMS2_000344 - - Germline (inherited) - Thomas v. O. Hansen
?/? 2 3i c.251-8T>C c.251-8T>C r.(?) p.(=) Class 3 - g.6043431A>G - Senter et al., 2008, {microatt:1000469, Mark Jenkins; John Hopper} PMS2_000156 - - Germline (inherited) - Michael Woods, InSiGHT group
+/? 1 3i c.251-2A>C - r.? p.? - - g.6043425T>G - - PMS2_000310 - - Unknown - Yvonne Vos
?/+? 1 3i c.251-2A>G - r.(spl?) p.? Class 4 - g.6043425T>C - Senter et al., 2008 PMS2_000152 - loss of splice acceptor site Germline (inherited) - Michael Woods
+/?, +/. 3 3i c.251-2A>T disruptive variant r.spl?, r.(?) p.? - - g.6043425T>A - 1 more item PMS2_000332 - Submitted by ICCon – South Australia Germline (inherited) - ICCon, Stephanie Baert-Desurmont
-?/. 1 4 c.255G>A c.255G>A r.(=) p.(=) Not classified - g.6043419C>T - - PMS2_000345 - - Germline (inherited) - Thomas v. O. Hansen
?/. 1 - c.260A>G - r.(?) p.(His87Arg) - - g.6043414T>C - - PMS2_000452 - - Germline (inherited) ? Demetra Georgiou
?/? 1 4 c.288C>A - r.(?) p.(=) Class 3 - g.6043386G>T - Hendriks et al., 2006 PMS2_000013 - - Germline (inherited) - Juul Wijnen
./-, ?/- 17 4 c.288C>T C>T at 288, A97A r.(=) p.Ala96=, p.(=) Class 1 - g.6043386G>A - Liu et al., 1995, {dbSNP12532895}, {dbSNP12532895}, Thompson et al., 2004 PMS2_000264 0.09 - Germline (inherited) - Jack Ji, InSiGHT group, John Paul Plazzer, Michael Woods
+?/? 1 4 c.319C>T - r.[319c>u, ?] p.? - - g.6043355G>A - van der Klift et al., 2015 PMS2_000299 - 1 more item Unknown - Carli Tops
?/? 1 4 c.320G>A - r.(?) p.(Arg107Gln) Class 3 - g.6043354C>T - Thompson et al., 2004 PMS2_000159 - 1 more item Germline (inherited) - Michael Woods
+/? 1 4 c.325dup - r.[325dup, 251_303del, 251_353del] p.[Glu109Glyfs*30, Thr84Argfs*37, Leu85Metfs*17] - - g.6043349dup - van der Klift et al., 2015 PMS2_000300 - 1 more item Unknown - Carli Tops
?/? 1 4 c.325G>A - r.(?) p.(Glu109Lys) Class 3 - g.6043349C>T - Thompson et al., 2004 PMS2_000160 - 1 more item Germline (inherited) - Michael Woods
?/? 1 4 c.343T>G - r.? p.(Cys115Gly) - - g.6043331A>C - van der Klift et al., in prep PMS2_000315 - - Unknown - Carli Tops
?/. 1 4i c.354-34C>G c.354-34C>G r.(=) p.(=) Not classified - g.6042301G>C - - PMS2_000346 - - Germline (inherited) - Thomas v. O. Hansen
?/+? 1 4i c.354-1G>A c.354-1G>A + c.52A>G r.(?) p.? Class 4 - g.6042268C>T - {microatt:1002928, Mensenkamp and Ligtenberg} PMS2_000285 - - Germline (inherited) - InSiGHT group
?/+ 1 4i_7i c.(353+1_354-1)_(803+1_804-1)del Deletion of Exon 5-7 r.(?) p.(Asp119_Tyr268del) Class 5 - g.(6035265_6036956)_(6042268_6043320)del - Senter et al., 2008; Tomsic et al., 2012 PMS2_000161 - - Germline (inherited) - Michael Woods
+/? 1 4i_12i c.(353+1_354-1)_(2174+1_2175-1)del - r.(?) p.(Ser118_Ala725delinsArg) - - g.(6018328_6022454)_(6042268_6043320)del - - PMS2_000015 - ICCON data, Royal Prince Alfred/Liverpool, NSW Germline (inherited) - John Paul Plazzer
?/-? 1 5 c.384G>A c.[164-2A>G;384G>A] r.384g>a p.= Class 2 - g.6042237C>T - Borras et al., 2013 PMS2_000296 - - Germline (inherited) - Gabriel Capellá
?/+, +/+ 11 5 c.400C>T p.Arg134X, c.400C>T r.?, r.(?) p.(Arg134*), p.Arg134* Class 5 - g.6042221G>A - de Vos et al., 2004, Hamilton et al., 1995, Taylor et al., 1999, Durno et al., 2005, 5 more items PMS2_000162 - 1 more item Germline (inherited) - Michael Woods, Elke Holinski-Feder, InSiGHT group
?/? 1 5 c.505C>G - r.? p.(Arg169Gly) - - g.6042116G>C - - PMS2_000306 - - Germline (inherited) - Maureen Mork
+/. 1 - c.516dup disruptive variant r.(?) p.(Phe173Ilefs*6) - - g.6042105dup - 1 more item chr7_000024 - - Germline (inherited) - Stephanie Baert-Desurmont
?/. 1 5i c.537+187A>G c.537+187A>G r.(?) p.? - - g.6041897T>C - Rossi et al. 2017 chr7_000002 - 1 more item Germline (inherited) - MEV DOMINGUEZ VALENTIN
?/+ 1 5i_6i c.538-478_705+456del - r.(?) p.(Glu180_Gln235del) Class 5 - g.6038283_6039384del - Borras et al., 2013 PMS2_000245 - - Germline (inherited) - Gabriel Capellá
?/- 2 5i c.538-223A>G - r.(=) p.(=) Class 1 - g.6039129T>C - {dbSNP2345060}, Song et al., 2006 PMS2_000163 - {dbSNP2345060} Germline (inherited) - John Paul Plazzer, Michael Woods
?/? 1 5i c.538-3C>G - r.[538_586del, 538_705del] p.? - - g.6038909G>C - - PMS2_000297 - - Germline (inherited) - Gabriel Capellá
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