All transcript variants in 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 We encourage submission of relevant unpublished information to assist in the classification of variants via LOVD or this template which can be emailed to the curator.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_000535.5 transcript reference sequence.

127 entries on 2 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     
-/- _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.-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.-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.-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.-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.-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.-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.-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.-93G>A benign r.(?) p.(=) g.6048743C>T g.6009112C>T - - PMS2_000241 Insight class: 1 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/+ 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_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_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
+/+ 1i_2i c.(23+1_24-1)_(163+1_164-1)del pathogenic r.? p.(Ser8Argfs*5) g.(6043690_6045522)_(6045663_6048627)del - - - PMS2_000148 Insight class: 5 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
-?/-? 2 c.52A>G likely benign r.(?) p.(Ile18Val) g.6045634T>C g.6006003T>C - - PMS2_000009 Insight class: 2 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
-/- 2 c.59G>A benign r.(?) p.(Arg20Gln) g.6045627C>T g.6005996C>T - - PMS2_000008 Insight class: 1 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
?/? 2 c.137G>A VUS r.(?) p.(Ser46Asn) g.6045549C>T g.6005918C>T - - PMS2_000060 Insight class: 3 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+?/+? 2i c.163+2T>C likely pathogenic r.24_163del p.Ser8Argfs*5 g.6045521A>G g.6005890A>G - - PMS2_000206 Insight class: 4 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/+ 2i_7i c.164-518_803+252delinsCG pathogenic r.164_803del p.? g.6036705_6044207delinsCG g.5997074_6004576delinsCG - - PMS2_000208 Insight class: 5 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+?/+? 2i c.164-2A>G likely pathogenic r.164_171del p.Asp55Alafs*2 g.6043691T>C g.6004060T>C - - PMS2_000244 Insight class: 4 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
-?/-? 3 c.180C>G likely benign r.(?) p.(Asp60Glu) g.6043673G>C g.6004042G>C - - PMS2_000239 Insight class: 2 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/+ 3 c.182del pathogenic r.(?) p.(Tyr61Leufs*15) g.6043671del g.6004040del - - PMS2_000122 Insight class: 5 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/+ 3 c.219_220dup pathogenic r.0 p.(Gly74Valfs*3) g.6043633_6043634dup g.6004002_6004003dup - - PMS2_000176 Insight class: 5 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
-/- 2i c.251-72A>G benign r.(?) p.(=) g.6043495T>C g.6003864T>C - - PMS2_000012 Insight class: 1 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
?/? 3i c.251-8T>C VUS r.(?) p.(=) g.6043431A>G g.6003800A>G - - PMS2_000156 Insight class: 3 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+?/+? 3i c.251-2A>G likely pathogenic r.(spl?) p.? g.6043425T>C g.6003794T>C - - PMS2_000152 Insight class: 4 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
?/? 4 c.288C>A VUS r.(?) p.(=) g.6043386G>T g.6003755G>T - - PMS2_000013 Insight class: 3 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
-/- 4 c.288C>T benign r.(?) p.(=) g.6043386G>A g.6003755G>A - - PMS2_000264 Insight class: 1 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
?/? 4 c.320G>A VUS r.(?) p.(Arg107Gln) g.6043354C>T g.6003723C>T - - PMS2_000159 Insight class: 3 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
?/? 4 c.325G>A VUS r.(?) p.(Glu109Lys) g.6043349C>T g.6003718C>T - - PMS2_000160 Insight class: 3 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+?/+? 4i c.354-1G>A likely pathogenic r.spl p.? g.6042268C>T g.6002637C>T - - PMS2_000285 Insight class: 4 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/+ 4i_7i c.(353+1_354-1)_(803+1_804-1)del pathogenic r.? p.(Asp119_Tyr268del) g.(6035265_6036956)_(6042268_6043320)del - - - PMS2_000161 Insight class: 5 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/+ 4i_15_ c.(353+1_354-1)_(*160_?)del pathogenic r.? p.? g.(?_6012870)_(6042268_6043320)del - - - PMS2_000209 Insight class: 5 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
-?/-? 5 c.384G>A likely benign r.384g>a p.= g.6042237C>T g.6002606C>T - - PMS2_000296 Insight class: 2 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/+ 5 c.400C>T pathogenic r.(?) p.(Arg134*) g.6042221G>A g.6002590G>A - - PMS2_000162 Insight class: 5 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/+ 5i_6i c.538-478_705+456del pathogenic r.(?) p.(Glu180_Gln235del) g.6038283_6039384del g.5998652_5999753del - - PMS2_000245 Insight class: 5 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
-/- 5i c.538-223A>G benign r.(?) p.(=) g.6039129T>C g.5999498T>C - - PMS2_000163 Insight class: 1 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/+ 6 c.543del pathogenic r.(?) p.(Tyr181*) g.6038901del g.5999270del - - PMS2_000164 Insight class: 5 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
?/? 6 c.544G>A VUS r.(?) p.(Ala182Thr) g.6038900C>T g.5999269C>T - - PMS2_000165 Insight class: 3 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/+ 6 c.593dup pathogenic r.(?) p.(Arg199Profs*50) g.6038851dup g.5999220dup - - PMS2_000166 Insight class: 5 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
?/? 6 c.614A>C VUS r.(?) p.(Gln205Pro) g.6038830T>G g.5999199T>G - - PMS2_000184 Insight class: 3 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/+ 6 c.703C>T pathogenic r.(?) p.(Gln235*) g.6038741G>A g.5999110G>A - - PMS2_000185 Insight class: 5 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+?/+? 6i c.705+1G>T likely pathogenic r.spl p.? g.6038738C>A g.5999107C>A - - PMS2_000186 Insight class: 4 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
-/- 6i c.705+17A>G benign r.(?) p.(=) g.6038722T>C g.5999091T>C - - PMS2_000025 Insight class: 1 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/+ 6i_7i c.(705+1_706-1)_(803+1_804-1)del pathogenic r.? p.(Leu236Hisfs*30) g.(6035265_6036956)_(6037055_6038738)del - - - PMS2_000180 Insight class: 5 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
-/- 7 c.780C>G benign r.(?) p.(=) g.6036980G>C g.5997349G>C - - PMS2_000030 Insight class: 1 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/+ 7 c.780del pathogenic r.(?) p.(Asp261Metfs*46) g.6036980del g.5997349del - - PMS2_000246 Insight class: 5 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
?/? 7 c.787C>G VUS r.(?) p.(Leu263Val) g.6036973G>C g.5997342G>C - - PMS2_000235 Insight class: 3 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
-/- 7i c.804-243G>A benign r.(?) p.(=) g.6035507C>T g.5995876C>T - - PMS2_000191 Insight class: 1 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/+ 7i c.804-60_804-59insJN866832.1 pathogenic r.803_804ins{804-73_804-60;JN866863.1:g.1_57} p.? g.6035323_6035324insJN866832.1 - - - PMS2_000242 Insight class: 5 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
?/? 7i c.804-10T>G VUS r.(?) p.(=) g.6035274A>C g.5995643A>C - - PMS2_000190 Insight class: 3 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/+ 7i_8i c.(803+1_804-1)_(903+1_904-1)del pathogenic r.? p.(Tyr268*) g.(6031689_6035164)_(6035265_6036956)del - - - PMS2_000189 Insight class: 5 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/+ 7i_11i c.(803+1_804-1)_(2006+1_2007-1)del pathogenic r.804_2006del p.Ile269_Ser669del g.(6022623_6026389)_(6035265_6036956)del - - - PMS2_000177 Insight class: 5 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/+ 8 c.861_864del pathogenic r.0 p.0 g.6035204_6035207del g.5995573_5995576del - - PMS2_000032 Insight class: 5 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/+ 8 c.862_863del pathogenic r.(?) p.(Gln288Valfs*10) g.6035205_6035206del g.5995574_5995575del - - PMS2_000193 Insight class: 5 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+?/+? 8 c.903G>T likely pathogenic r.804_903del p.Tyr268* g.6035165C>A g.5995534C>A - - PMS2_000194 Insight class: 4 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/+ 8i_9i c.(903+1_904-1)_(988+1_989-1)del pathogenic r.? p.(Val302Asnfs*26) g.(6029587_6031603)_(6031689_6035164)del - - - PMS2_000196 Insight class: 5 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/+ 8i_15_ c.(903+1_904-1)_(*160_?)del pathogenic r.? p.? g.(?_6012870)_(6031689_6035164)del - - - PMS2_000197 Insight class: 5 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
?/? 9 c.921T>G VUS r.(?) p.(Asn307Lys) g.6031671A>C g.5992040A>C - - PMS2_000240 Insight class: 3 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/+ 9 c.943C>T pathogenic r.(?) p.(Arg315*) g.6031649G>A g.5992018G>A - - PMS2_000247 Insight class: 5 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
?/? 9i c.988+78G>A VUS r.(?) p.(=) g.6031526C>T g.5991895C>T - - PMS2_000036 Insight class: 3 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+?/+? 9i c.989-2A>G likely pathogenic r.989_1144del p.(Glu330_Glu381del) g.6029588T>C g.5989957T>C - - PMS2_000249 Insight class: 4 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/+ 9i c.989-1G>T pathogenic r.spl p.? g.6029587C>A g.5989956C>A - - PMS2_000289 Insight class: 5 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/+ 9i_15_ c.(988+1_989-1)_(*160_?)del pathogenic r.? p.? g.(?_6012870)_(6029587_6031603)del - - - PMS2_000248 Insight class: 5 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/+ 10 c.1021del pathogenic r.(?) p.(Arg341Glyfs*15) g.6029554del g.5989923del - - PMS2_000045 Insight class: 5 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/+ 10 c.1076dup pathogenic r.(?) p.(Leu359Phefs*6) g.6029499dup g.5989868dup - - PMS2_000046 Insight class: 5 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/+ 10 c.1079_1080del pathogenic r.(?) p.(Ile360Argfs*4) g.6029495_6029496del g.5989864_5989865del - - PMS2_000278 Insight class: 5 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/+ 10 c.1112_1113delinsTTTA pathogenic r.(?) p.(Asn371Ilefs*2) g.6029462_6029463delinsTAAA g.5989831_5989832delinsTAAA - - PMS2_000200 Insight class: 5 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+?/+? 10i c.1144+2T>A likely pathogenic r.989_1144del p.(Glu330_Glu381del) g.6029429A>T g.5989798A>T - - PMS2_000040 Insight class: 4 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/+ 10i_15_ c.1145-1350_*20545del pathogenic r.? p.? g.5992485_6028601del - - - PMS2_000334 Insight class: 5 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
?/? 10i c.1145-5C>T VUS r.(?) p.(=) g.6027256G>A g.5987625G>A - - PMS2_000048 Insight class: 3 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/+ 10i_12i c.(1144+1_1145-1)_(2174+1_2175-1)del pathogenic r.? p.(Gly382Aspfs*7) g.(6018328_6022454)_(6027252_6029430)del - - - PMS2_000047 Insight class: 5 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/+ 10i_14i c.(1144+1_1145-1)_(2445+1_2446-1)del pathogenic r.? p.(Asn383Aspfs*7) g.(6013174_6017218)_(6027252_6029430)del - - - PMS2_000080 Insight class: 5 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/+ 11 c.1169_1170ins(20) pathogenic r.(?) p.? g.6027226_6027227ins(20) - - - PMS2_000049 Insight class: 5 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/+ 11 c.1221del pathogenic r.(?) p.(Thr408Leufs*40) g.6027175del g.5987544del - - PMS2_000050 Insight class: 5 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
?/? 11 c.1237_1239del VUS r.(?) p.(Lys413del) g.6027157_6027159del g.5987526_5987528del - - PMS2_000051 Insight class: 3 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/+ 11 c.1261C>T pathogenic r.(?) p.(Arg421*) g.6027135G>A g.5987504G>A - - PMS2_000181 Insight class: 5 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/+ 11 c.1306dup pathogenic r.(?) p.(Ser436Lysfs*22) g.6027090dup g.5987459dup - - PMS2_000059 Insight class: 5 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
?/? 11 c.1384A>C VUS r.(?) p.(Ile462Leu) g.6027012T>G g.5987381T>G - - PMS2_000214 Insight class: 3 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
-/- 11 c.1408C>T benign r.(?) p.(Pro470Ser) g.6026988G>A g.5987357G>A - - PMS2_000116 Insight class: 1 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
?/? 11 c.1437C>G VUS r.(?) p.(His479Gln) g.6026959G>C g.5987328G>C - - PMS2_000063 Insight class: 3 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
-/- 11 c.1454C>A benign r.(?) p.(Thr485Lys) g.6026942G>T g.5987311G>T - - PMS2_000138 Insight class: 1 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
?/? 11 c.1463C>T VUS r.(?) p.(Ala488Val) g.6026933G>A g.5987302G>A - - PMS2_000236 Insight class: 3 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
-/- 11 c.1488C>T benign r.(?) p.(=) g.6026908G>A g.5987277G>A - - PMS2_000064 Insight class: 1 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
?/? 11 c.1510G>C VUS r.(?) p.(Glu504Gln) g.6026886C>G g.5987255C>G - - PMS2_000237 Insight class: 3 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
-/- 11 c.1531A>G benign r.(?) p.(Thr511Ala) g.6026865T>C g.5987234T>C - - PMS2_000071 Insight class: 1 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
-/- 11 c.1532C>T benign r.(?) p.(Thr511Met) g.6026864G>A g.5987233G>A - - PMS2_000238 Insight class: 1 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
-?/-? 11 c.1569C>G likely benign r.1569c>g p.= g.6026827G>C g.5987196G>C - - PMS2_000250 Insight class: 2 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
-?/-? 11 c.1711C>A likely benign r.(?) p.(Leu571Ile) g.6026685G>T g.5987054G>T - - PMS2_000084 Insight class: 2 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
?/? 11 c.1732C>T VUS r.(?) p.(Arg578Cys) g.6026664G>A g.5987033G>A - - PMS2_000088 Insight class: 3 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/+ 11 c.1738A>T pathogenic r.(?) p.(Lys580*) g.6026658T>A g.5987027T>A - - PMS2_000090 Insight class: 5 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
?/? 11 c.1753C>A VUS r.(?) p.(Leu585Ile) g.6026643G>T g.5987012G>T - - PMS2_000097 Insight class: 3 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/+ 11 c.1768del pathogenic r.(?) p.(Ile590Phefs*5) g.6026628del g.5986997del - - PMS2_000099 Insight class: 5 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
-/- 11 c.1789A>T benign r.1789a>u p.Thr597Ser g.6026607T>A g.5986976T>A - - PMS2_000145 Insight class: 1 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/+ 11 c.1831dup pathogenic r.(?) p.(Ile611Asnfs*2) g.6026565dup g.5986934dup - - PMS2_000091 Insight class: 5 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
-/- 11 c.1866G>A benign r.(?) p.(Met622Ile) g.6026530C>T g.5986899C>T - - PMS2_000029 Insight class: 1 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
?/? 11 c.1876G>C VUS r.(?) p.(Ala626Pro) g.6026520C>G g.5986889C>G - - PMS2_000182 Insight class: 3 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/+ 11 c.1882C>T pathogenic r.(?) p.(Arg628*) g.6026514G>A g.5986883G>A - - PMS2_000058 Insight class: 5 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/+ 11 c.1927C>T pathogenic r.(?) p.(Gln643*) g.6026469G>A g.5986838G>A - - PMS2_000130 Insight class: 5 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
?/? 11 c.1988A>C VUS r.(?) p.(Glu663Ala) g.6026408T>G g.5986777T>G - - PMS2_000011 Insight class: 3 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
-/- 11i c.2006+6G>A benign r.spl? p.(=) g.6026384C>T g.5986753C>T - - PMS2_000153 Insight class: 1 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
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