All transcript variants in gene MSH2


MSH2 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 We encourage submission of relevant unpublished information to assist in the classification of variants via LOVD or this template which can be emailed to the curator.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_000251.2 transcript reference sequence.

867 entries on 9 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_11i c.-75398_1759+1708del pathogenic r.spl p.? g.47554933_47699909del - - - MSH2_001624 Insight class: 5 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/+ 1_7i c.-47156_1277-4980del pathogenic r.spl? p.(=) g.47583175_47667707del - - - MSH2_000856 Insight class: 5 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/+ 1_7i c.-35298_1276+5697del pathogenic r.spl? p.(=) g.47595033_47662777del - - - MSH2_000938 Insight class: 5 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/+ 1_6i c.-11844_1077-6021delins(155) pathogenic r.spl? p.(=) g.47618487_47650860delins(155) - - - MSH2_001602 Insight class: 5 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/+ 1_2i c.-4729_367-353del pathogenic r.? p.? g.47625602_47636880del - - - MSH2_000862 Insight class: 5 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/+ 1_3i c.-1753_645+922del pathogenic r.spl p.? g.47628578_47638433del - - - MSH2_001625 Insight class: 5 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/+ 1_6i c.-956_1077-5607del pathogenic r.spl? p.(=) g.47629375_47651274del - - - MSH2_001603 Insight class: 5 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/+ 1_6i c.-823_1076+5984del pathogenic r.spl? p.(=) g.47629508_47649552del - - - MSH2_001604 Insight class: 5 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
-/- 1 c.-433T>G InSiGHT: 1 r.(?) p.(=) g.47629898T>G - - - MSH2_001224 Insight class: 1 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
?/? 1 c.-225G>C VUS r.(?) p.(=) g.47630106G>C - - - MSH2_001140 Insight class: 3 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
?/? 1 c.-190C>T VUS r.(?) p.(=) g.47630141C>T - - - MSH2_001054 Insight class: 3 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/+ _1_1i c.(?_-125)_(211+1_211-1)del pathogenic r.0? p.0? g.(?_47630206)_(47630542_47635539)del - - - MSH2_000040 Insight class: 5 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/+ _1_2i c.(?_-125)_(366+1_367-1)del pathogenic r.0? p.0? g.(?_47630206)_(47635695_47637232)del - - - MSH2_000041 Insight class: 5 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/+ _1_3i c.(?_-125)_(645+1_646-1)del pathogenic r.0? p.0? g.(?_47630206)_(47637512_47639552)del - - - MSH2_000863 Insight class: 5 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/+ _1_4i c.(?_-125)_(792+1_793-1)del pathogenic r.spl p.Met1_Gln264del g.(?_47630206)_(47639700_47641407)del - - - MSH2_000864 Insight class: 5 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/+ _1_5i c.(?_-125)_(942+1_943-1)del pathogenic r.0? p.0? g.(?_47630206)_(47641558_47643434)del - - - MSH2_000035 Insight class: 5 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
?/? _1_6i c.(?_-125)_(1076+1_1077-1)dup VUS r.0? p.0? g.(?_47630206)_(47643569_47656880)dup - - - MSH2_000004 Insight class: 3 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/+ _1_8i c.(?_-125)_(1386+1_1387-1)del pathogenic r.0? p.0? g.(?_47630206)_(47672797_47690169)del - - - MSH2_000238 Insight class: 5 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/+ _1_10i c.(?_-125)_(1661+1_1662-1)del pathogenic r.0? p.0? g.(?_47630206)_(47693948_47698103)del - - - MSH2_000042 Insight class: 5 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/+ _1_11i c.(?_-125)_(1759+1_1760-1)del pathogenic r.0? p.0? g.(?_47630206)_(47698202_47702163)del - - - MSH2_000859 Insight class: 5 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/+ _1_15i c.(?_-125)_(2634+1_2635-1)del pathogenic r.0? p.0? g.(?_47630206)_(47708011_47709917)del - - - MSH2_000861 Insight class: 5 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/+ _1_16_ c.(?_-125)_(*279_?)del pathogenic r.0? p.0? g.(?_47630206)_(47710367_?)del - - - MSH2_000043 Insight class: 5 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
-/- 1 c.-118T>C InSiGHT: 1 r.(?) p.(=) g.47630213T>C - - - MSH2_000892 Insight class: 1 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
?/? 1 c.-81dup VUS r.(?) p.(=) g.47630250dup - - - MSH2_001288 Insight class: 3 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+?/+? 1 c.-78_-77del likely pathogenic r.(?) p.(=) g.47630253_47630254del - - - MSH2_001272 Insight class: 4 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/+ - c.(?_-68)_(1076+1_1077-1)del pathogenic r.(?) p.? g.47630263_47643568del - - - MSH2_001644 Insight class: 5 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/+ - c.(?_-68)_(1276+1_1277-1)del pathogenic r.(?) p.? g.47630263_47657080del - - - MSH2_001645 Insight class: 5 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/+ - c.(?_-68)_(1386+1_1387-1)del pathogenic r.(?) p.? g.47630263_47672796del - - - MSH2_001646 Insight class: 5 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/+ - c.(?_-68)_(1661+1_1662-1)del pathogenic r.(?) p.? g.47630263_47693947del - - - MSH2_001647 Insight class: 5 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
?/? 1 c.1A>C VUS r.(?) p.? g.47630331A>C - - - MSH2_001065 Insight class: 3 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
?/? 1 c.1A>G VUS r.(?) p.? g.47630331A>G - - - MSH2_001066 Insight class: 3 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
?/? 1 c.1A>T VUS r.? p.? g.47630331A>T - - - MSH2_000030 Insight class: 3 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
-?/-? 1 c.4G>A InSiGHT: 2 r.4g>a p.Ala2Thr g.47630334G>A - - - MSH2_000276 Insight class: 2 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
?/? 1 c.4_21dup VUS r.(?) p.(Ala2_Glu7dup) g.47630334_47630351dup - - - MSH2_001221 Insight class: 3 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
-?/-? 1 c.6G>T likely benign r.(?) p.(=) g.47630336G>T - - - MSH2_001383 Insight class: 2 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
-/- - c.7G>T benign r.(?) p.(Val3Leu) g.47630337G>T - - - MSH2_001830 Insight class: 1 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
?/? 1 c.14C>A VUS r.14c>a p.Pro5Gln g.47630344C>A - - - MSH2_000277 Insight class: 3 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/+ 1 c.20del pathogenic r.(?) p.(Glu7Glyfs*57) g.47630350del - - - MSH2_001103 Insight class: 5 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/+ 1 c.21dup pathogenic r.(?) p.(Thr8Aspfs*74) g.47630351dup - - - MSH2_001118 Insight class: 5 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
-/- 1 c.23C>T InSiGHT: 1 r.23c>u p.Thr8Met g.47630353C>T - - - MSH2_000055 Insight class: 1 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/+ 1 c.28C>T pathogenic r.(?) p.(Gln10*) g.47630358C>T - - - MSH2_001199 Insight class: 5 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/+ 1 c.29dup pathogenic r.(?) p.(Leu11Valfs*71) g.47630359dup - - - MSH2_001202 Insight class: 5 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/+ 1 c.34dup pathogenic r.(?) p.(Glu12Glyfs*70) g.47630364dup - - - MSH2_001208 Insight class: 5 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
?/? 1 c.38G>T VUS r.(?) p.(Ser13Ile) g.47630368G>T - - - MSH2_000049 Insight class: 3 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
?/? 1 c.49G>T VUS r.(?) p.(Val17Phe) g.47630379G>T - - - MSH2_000059 Insight class: 3 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
?/? 1 c.54C>G VUS r.(?) p.(=) g.47630384C>G - - - MSH2_001240 Insight class: 3 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/+ 1 c.71dup pathogenic r.(?) p.(Met26Hisfs*56) g.47630401dup - - - MSH2_000847 Insight class: 5 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/+ 1 c.73_74insC pathogenic r.(?) p.(Gly25Alafs*57) g.47630403_47630404insC - - - MSH2_000848 Insight class: 5 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/+ 1 c.82del pathogenic r.(?) p.(Glu28Argfs*36) g.47630412del - - - MSH2_001287 Insight class: 5 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/+ 1 c.82G>T pathogenic r.(?) p.(Glu28*) g.47630412G>T - - - MSH2_000018 Insight class: 5 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/+ 1 c.94_103del pathogenic r.(?) p.(Thr32Alafs*29) g.47630424_47630433del - - - MSH2_000050 Insight class: 5 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
?/? 1 c.97A>C VUS r.(?) p.(Thr33Pro) g.47630427A>C - - - MSH2_000052 Insight class: 3 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
?/? 1 c.97A>G VUS r.97a>g p.Thr33Ala g.47630427A>G - - - MSH2_000051 Insight class: 3 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/+ 1 c.110del pathogenic r.(?) p.(Phe37Serfs*27) g.47630440del - - - MSH2_000045 Insight class: 5 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
?/? 1 c.114C>G VUS r.(?) p.(Asp38Glu) g.47630444C>G - - - MSH2_000280 Insight class: 3 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
?/? 1 c.118G>A VUS r.(?) p.(Gly40Ser) g.47630448G>A - - - MSH2_000024 Insight class: 3 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/+ 1 c.119del pathogenic r.(?) p.(Gly40Alafs*24) g.47630449del - - - MSH2_000895 Insight class: 5 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
?/? 1 c.128A>G VUS r.128a>g p.Tyr43Cys g.47630458A>G - - - MSH2_000056 Insight class: 3 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/+ 1 c.129T>G pathogenic r.(?) p.(Tyr43*) g.47630459T>G - - - MSH2_000929 Insight class: 5 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
?/? 1 c.131C>T VUS r.(?) p.(Thr44Met) g.47630461C>T - - - MSH2_000284 Insight class: 3 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
?/? 1 c.134C>T VUS r.(?) p.(Ala45Val) g.47630464C>T - - - MSH2_000007 Insight class: 3 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/+ 1 c.136_164del pathogenic r.(?) p.(His46Glyfs*26) g.47630466_47630494del - - - MSH2_000934 Insight class: 5 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
-?/-? 1 c.138C>G likely benign r.(?) p.(His46Gln) g.47630468C>G - - - MSH2_000026 Insight class: 2 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
?/? 1 c.141C>A VUS r.(?) p.(=) g.47630471C>A - - - MSH2_000809 Insight class: 3 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/+ 1 c.145del pathogenic r.(?) p.(Asp49Thrfs*15) g.47630475del - - - MSH2_000011 Insight class: 5 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/+ 1 c.145_146del pathogenic r.(?) p.(Asp49Argfs*32) g.47630475_47630476del - - - MSH2_000961 Insight class: 5 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
?/? 1 c.146A>T VUS r.(?) p.(Asp49Val) g.47630476A>T - - - MSH2_000964 Insight class: 3 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/+ 1 c.154_155insG pathogenic r.(?) p.(Leu52Argfs*30) g.47630484_47630485insG - - - MSH2_000978 Insight class: 5 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/+ 1 c.163del pathogenic r.(?) p.(Arg55Glyfs*9) g.47630493del - - - MSH2_000009 Insight class: 5 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
-?/-? - c.164G>A likely benign r.(?) p.(Arg55Gln) g.47630494G>A - - - MSH2_001827 Insight class: 2 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/+ 1 c.166del pathogenic r.(?) p.(Glu56Argfs*8) g.47630496del - - - MSH2_000020 Insight class: 5 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/+ 1 c.166G>T pathogenic r.(?) p.(Glu56*) g.47630496G>T - - - MSH2_001361 Insight class: 5 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
?/? 1 c.169G>A VUS r.(?) p.(Val57Met) g.47630499G>A - - - MSH2_001017 Insight class: 3 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/+ 1 c.181C>T pathogenic r.(?) p.(Gln61*) g.47630511C>T - - - MSH2_000015 Insight class: 5 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
?/? 1 c.182A>C VUS r.(?) p.(Gln61Pro) g.47630512A>C - - - MSH2_000014 Insight class: 3 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/+ 1 c.186_187dup pathogenic r.(?) p.(Val63Glyfs*2) g.47630516_47630517dup - - - MSH2_000145 Insight class: 5 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/+ 1 c.187del pathogenic r.(?) p.(Val63*) g.47630517del - - - MSH2_000061 Insight class: 5 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/+ 1 c.187dup pathogenic r.(?) p.(Val63Glyfs*19) g.47630517dup - - - MSH2_000062 Insight class: 5 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/+ 1 c.192dup pathogenic r.(?) p.(Lys65Glnfs*17) g.47630522dup - - - MSH2_000151 Insight class: 5 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/+ 1 c.204del pathogenic r.(?) p.(Pro69Argfs*15) g.47630534del - - - MSH2_000048 Insight class: 5 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
?/? 1i c.211+8C>G VUS r.spl? p.(=) g.47630549C>G - - - MSH2_001105 Insight class: 3 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
-/- 1i c.211+9C>G InSiGHT: 1 r.spl? p.(=) g.47630550C>G - - - MSH2_000070 Insight class: 1 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
-/- 1i c.211+98T>C InSiGHT: 1 r.spl? p.(=) g.47630639T>C - - - MSH2_001106 Insight class: 1 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/+ 1i_7i c.211+1566_1277-3954del pathogenic r.212_1277del p.Ala72_Gly426del g.47632107_47668733del - - - MSH2_001606 Insight class: 5 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/+ 1i c.212-478T>G pathogenic r.211_212ins212-553_212-479 p.? g.47635062T>G - - - MSH2_000844 Insight class: 5 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+?/+? 1i c.212-2A>G likely pathogenic r.spl p.? g.47635538A>G - - - MSH2_000072 Insight class: 4 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/+ 1i c.212-1G>A InSiGHT: 5 r.spl p.? g.47635539G>A - - - MSH2_001110 Insight class: 5 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/+ 1i_2i c.(211+1_212-1)_(366+1_367-1)del pathogenic r.212_366del p.Ala72Phefs*9 g.(47630542_47635539)_(47635695_47637232)del - - - MSH2_000076 Insight class: 5 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/+ 1i_3i c.(211+1_212-1)_(645+1_646-1)del pathogenic r.spl p.(Gly71Aspfs*16) g.(47630542_47635539)_(47637512_47639552)del - - - MSH2_001109 Insight class: 5 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/+ 1i_6i c.(211+1_212-1)_(1076+1_1077-1)inv pathogenic r.212_1076del p.Gly71Aspfs*2 g.(47630542_47635539)_(47643569_47656880)inv - - - MSH2_001579 Insight class: 5 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/+ 1i_7i c.(211+1_212-1)_(1276+1_1277-1)del pathogenic r.spl p.(Ala72_Gly426del) g.(47630542_47635539)_(47657081_47672686)del - - - MSH2_001605 Insight class: 5 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/+ 1i_8i c.(211+1_212-1)_(1386+1_1387-1)del pathogenic r.212_1386del p.Ala72Glyfs*4 g.(47630542_47635539)_(47672797_47690169)del - - - MSH2_001107 Insight class: 5 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/+ 1i_9i c.(211+1_212-1)_(1510+1_1511-1)del pathogenic r.spl p.(Ala72_Gly504del) g.(47630542_47635539)_(47690294_47693796)del - - - MSH2_001343 Insight class: 5 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/+ 1i_14i c.(211+1_212-1)_(2458+1_2459-1)del pathogenic r.spl p.(Ala72_Gly820del) g.(47630542_47635539)_(47705659_47707834)del - - - MSH2_001108 Insight class: 5 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
-?/-? - c.213A>G likely benign r.(=) p.(=) g.47635541A>G - - - MSH2_001831 Insight class: 2 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/+ 2 c.214_221del pathogenic r.(?) p.(Ala72Serfs*7) g.47635542_47635549del - - - MSH2_001492 Insight class: 5 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
?/? 2 c.219G>A VUS r.219g>a p.= g.47635547G>A - - - MSH2_001117 Insight class: 3 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/+ 2 c.223_224del pathogenic r.(?) p.(Leu75Alafs*6) g.47635551_47635552del - - - MSH2_001131 Insight class: 5 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/+ 2 c.226C>T pathogenic r.(?) p.(Gln76*) g.47635554C>T - - - MSH2_000843 Insight class: 5 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/+ 2 c.229_230del pathogenic r.(?) p.(Ser77Cysfs*4) g.47635557_47635558del - - - MSH2_000100 Insight class: 5 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
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