All variants in the MSH6 gene


MSH6 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 We encourage submission of relevant unpublished information to assist in the classification of variants via LOVD or this template which can be emailed to the curator.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_000179.2 transcript reference sequence.

651 entries on 7 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
?/? 1 c.-13022_-1711del r.? p.? - VUS g.47997351_48008662del g.47770212_47781523del - - MSH6_000012 Insight class: 3 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/+ 1_2i c.-11863_457+1921del r.? p.? - pathogenic g.47998510_48020183del g.47771371_47793044del - - MSH6_000002 Insight class: 5 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/+ 1_2i c.-3097_457+2010del r.? p.? - pathogenic g.48007276_48020272del g.47780137_47793133del - - MSH6_000003 Insight class: 5 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
-/- 1 c.-557T>G r.(=) p.(=) - benign g.48009816T>G g.47782677T>G - - MSH6_000597 Insight class: 1 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
-/- 1 c.-448G>A r.(=) p.(=) - benign g.48009925G>A g.47782786G>A - - MSH6_000591 Insight class: 1 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
-/- 1 c.-210C>T r.(=) p.(=) - benign g.48010163C>T g.47783024C>T - - MSH6_000429 Insight class: 1 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
-/- 1 c.-159C>T r.(=) p.(=) - benign g.48010214C>T g.47783075C>T - - MSH6_000401 Insight class: 1 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
?/. _1_1i c.(?_-152)_(260+1_261-1)del r.? p.? - VUS g.(?_48010221)_(48010633_48018065)del - - - MSH6_000174 Not classified DUPLICATE – to be removed - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/+ _1_2i c.(?_-152)_(457+1_458-1)del r.? p.? - pathogenic g.(?_48010221)_(48018263_48023032)del - - - MSH6_000001 Insight class: 5 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/+ _1_10_ c.(?_-152)_(*93_?)del r.? p.? - pathogenic g.(?_48010221)_(48034092_?)del - - - MSH6_000911 Insight class: 5 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
?/. 1 c.-118G>A r.(=) p.(=) - VUS g.48010255G>A g.47783116G>A - - MSH6_000121 Not classified DUPLICATE – to be removed - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
-?/-? 1 c.-88G>A r.(=) p.(=) - likely benign g.48010285G>A g.47783146G>A - - MSH6_000792 Insight class: 2 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
?/? 1 c.-18G>T r.(=) p.(=) - VUS g.48010355G>T g.47783216G>T - - MSH6_000006 Insight class: 3 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
?/? 1 c.-8C>T r.(=) p.(=) - VUS g.48010365C>T g.47783226C>T - - MSH6_000770 Insight class: 3 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
?/. _1_6i c.(?_-1)_(3556+1_3557-1)del r.? p.? - VUS g.(?_48010373)_(48032167_48032756)del - - - MSH6_000084 - DUPLICATE – to be removed - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
?/. _1_2i c.(?_1)_(457+1_458-1)del r.? p.? - VUS g.(?_48010373)_(48018263_48023032)del - - - MSH6_000042 - DUPLICATE – to be removed - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+?/+? 1 c.3G>T r.(?) p.(Met1?) - likely pathogenic g.48010375G>T g.47783236G>T - - MSH6_000056 Insight class: 4 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
?/? 1 c.38A>C r.(?) p.(Lys13Thr) - VUS g.48010410A>C g.47783271A>C - - MSH6_000033 Insight class: 3 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
-?/-? 1 c.59C>T r.(?) p.(Ala20Val) - likely benign g.48010431C>T g.47783292C>T - - MSH6_000591 Insight class: 2 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
?/? 1 c.62A>G r.(?) p.(Asn21Ser) - VUS g.48010434A>G g.47783295A>G - - MSH6_000606 Insight class: 3 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
?/. 1 c.63C>G r.(?) p.(Asn21Lys) - VUS g.48010435C>G g.47783296C>G - - MSH6_000058 - DUPLICATE – to be removed - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
?/? 1 c.73G>T r.(?) p.(Ala25Ser) - VUS g.48010445G>T g.47783306G>T - - MSH6_000615 Insight class: 3 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
?/? 1 c.108T>G r.(=) p.(=) - VUS g.48010480T>G g.47783341T>G - - MSH6_000009 Insight class: 3 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
-/- 1 c.116G>A r.(?) p.(Gly39Glu) - benign g.48010488G>A g.47783349G>A - - MSH6_000915 Insight class: 1 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
?/? 1 c.124C>T r.(?) p.(Pro42Ser) - VUS g.48010496C>T g.47783357C>T - - MSH6_000727 Insight class: 3 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
?/. 1 c.151_167dup r.(?) p.(Pro57Alafs*30) - VUS g.48010523_48010539dup g.47783384_47783400dup - - MSH6_000178 - DUPLICATE – to be removed - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
-?/-? 1 c.161G>C r.(?) p.(Gly54Ala) - likely benign g.48010533G>C g.47783394G>C - - MSH6_000404 Insight class: 2 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
-/- 1 c.186C>A r.(=) p.(=) - benign g.48010558C>A g.47783419C>A - - MSH6_000917 Insight class: 1 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
-?/-? 1 c.194C>T r.(?) p.(Ser65Leu) - likely benign g.48010566C>T g.47783427C>T - - MSH6_000035 Insight class: 2 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
?/. 1 c.220G>T r.(?) p.(Gly74*) - VUS g.48010592G>T g.47783453G>T - - MSH6_000901 - DUPLICATE – to be removed - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
-?/-? 1 c.241G>A r.(?) p.(Ala81Thr) - likely benign g.48010613G>A g.47783474G>A - - MSH6_000629 Insight class: 2 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
?/? 1 c.255C>A r.(=) p.(=) - VUS g.48010627C>A g.47783488C>A - - MSH6_000359 Insight class: 3 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
?/. 1 c.255dup r.(?) p.(Thr86Hisfs*4) - VUS g.48010627dup g.47783488dup - - MSH6_000070 - DUPLICATE – to be removed - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
-/- 1i c.260+22C>G r.(=) p.(=) - benign g.48010654C>G g.47783515C>G - - MSH6_000013 Insight class: 1 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
?/? 1i c.260+25A>C r.(=) p.(=) - VUS g.48010657A>C g.47783518A>C - - MSH6_000451 Insight class: 3 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
?/? 1i c.260+43G>A r.(=) p.(=) - VUS g.48010675G>A g.47783536G>A - - MSH6_000452 Insight class: 3 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
?/? 1i c.260+96A>C r.(=) p.(=) - VUS g.48010728A>C g.47783589A>C - - MSH6_000453 Insight class: 3 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
?/? 1i c.260+101C>A r.(=) p.(=) - VUS g.48010733C>A g.47783594C>A - - MSH6_000448 Insight class: 3 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
?/? 1i c.260+131C>A r.(=) p.(=) - VUS g.48010763C>A g.47783624C>A - - MSH6_000449 Insight class: 3 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
-/- 1i c.260+2214C>T r.(=) p.(=) - benign g.48012846C>T g.47785707C>T - - MSH6_000450 Insight class: 1 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
-/- 1i c.260+2467A>G r.(=) p.(=) - benign g.48013099A>G g.47785960A>G - - MSH6_000446 Insight class: 1 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
-/- 1i c.261-1170G>T r.(=) p.(=) - benign g.48016896G>T g.47789757G>T - - MSH6_000456 Insight class: 1 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
-/- 1i c.261-36A>G r.(=) p.(=) - benign g.48018030A>G g.47790891A>G - - MSH6_000021 Insight class: 1 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
?/? 1i_2i c.(260+1_261-1)_(457+1_458-1)dup r.? p.? - VUS g.(48010633_48018065)_(48018263_48023032)dup - - - MSH6_000454 Insight class: 3 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
-/- 2 c.276A>G r.(=) p.(=) - benign g.48018081A>G g.47790942A>G - - MSH6_000920 Insight class: 1 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
?/? 2 c.297G>T r.(?) p.(Lys99Asn) - VUS g.48018102G>T g.47790963G>T - - MSH6_000024 Insight class: 3 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
?/. 2 c.305del r.(?) p.(Gly102Valfs*47) - VUS g.48018110del g.47790971del - - MSH6_000124 Not classified DUPLICATE – to be removed - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
?/. 2 c.312C>T r.(=) p.(=) - VUS g.48018117C>T g.47790978C>T - - MSH6_000125 Not classified DUPLICATE – to be removed - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
?/. 2 c.325C>G r.(?) p.(Leu109Val) - VUS g.48018130C>G g.47790991C>G - - MSH6_000921 - DUPLICATE – to be removed - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
?/. 2 c.356_359del r.(?) p.(Phe119Serfs*29) - VUS g.48018161_48018164del g.47791022_47791025del - - MSH6_000098 - DUPLICATE – to be removed - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
?/? 2 c.362G>A r.(?) p.(Arg121His) - VUS g.48018167G>A g.47791028G>A - - MSH6_000020 Insight class: 3 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
?/? 2 c.363C>T r.(=) p.(=) - VUS g.48018168C>T g.47791029C>T - - MSH6_000630 Insight class: 3 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
?/? 2 c.383G>T r.(?) p.(Arg128Leu) - VUS g.48018188G>T g.47791049G>T - - MSH6_000555 Insight class: 3 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
?/. 2 c.384del r.(?) p.(Val129Phefs*20) - VUS g.48018189del g.47791050del - - MSH6_000557 - DUPLICATE – to be removed - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
?/. 2 c.394C>T r.(?) p.(Gln132*) - VUS g.48018199C>T g.47791060C>T - - MSH6_000922 - DUPLICATE – to be removed - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
?/? 2 c.395A>C r.(?) p.(Gln132Pro) - VUS g.48018200A>C g.47791061A>C - - MSH6_000333 Insight class: 3 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
?/? 2 c.402dup r.(?) p.(Asp135*) - VUS g.48018207dup g.47791068dup - - MSH6_000048 Insight class: 3 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
?/. 2 c.425G>A r.(?) p.(Trp142*) - VUS g.48018230G>A g.47791091G>A - - MSH6_000104 - DUPLICATE – to be removed - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/+ 2 c.426G>A r.(?) p.(Trp142*) - pathogenic g.48018231G>A g.47791092G>A - - MSH6_000588 Insight class: 5 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
-/- 2 c.431G>T r.(?) p.(Ser144Ile) - benign g.48018236G>T g.47791097G>T - - MSH6_000923 Insight class: 1 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
?/? 2 c.440T>A r.(?) p.(Leu147His) - VUS g.48018245T>A g.47791106T>A - - MSH6_000589 Insight class: 3 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
?/. 2i c.457+2dup r.spl? p.? - VUS g.48018264dup g.47791125dup - - MSH6_000054 - DUPLICATE – to be removed - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/+ 2i c.457+2T>A r.spl? p.? - pathogenic g.48018264T>A g.47791125T>A - - MSH6_000029 Insight class: 5 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
-?/-? 2i c.457+13A>G r.(=) p.(=) - likely benign g.48018275A>G g.47791136A>G - - MSH6_000030 Insight class: 2 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
?/? 2i c.457+14C>G r.(=) p.(=) - VUS g.48018276C>G g.47791137C>G - - MSH6_000593 Insight class: 3 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
-/- 2i c.457+52T>A r.(=) p.(=) - benign g.48018314T>A g.47791175T>A - - MSH6_000032 Insight class: 1 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
?/? 2i c.457+52_457+53dup r.(=) p.(=) - VUS g.48018314_48018315dup g.47791175_47791176dup - - MSH6_000765 Insight class: 3 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
?/? 2i c.457+59_457+60del r.(=) p.(=) - VUS g.48018321_48018322del g.47791182_47791183del - - MSH6_000766 Insight class: 3 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
?/? 2i c.457+63_457+64del r.(=) p.(=) - VUS g.48018325_48018326del g.47791186_47791187del - - MSH6_000039 Insight class: 3 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
-/- 2i c.457+394T>C r.(=) p.(=) - benign g.48018656T>C g.47791517T>C - - MSH6_000594 Insight class: 1 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
-/- 2i c.457+1223T>C r.(=) p.(=) - benign g.48019485T>C g.47792346T>C - - MSH6_000592 Insight class: 1 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
?/. 2i c.458-133A>G r.(=) p.(=) - VUS g.48022900A>G g.47795761A>G - - MSH6_000126 Not classified DUPLICATE – to be removed - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
-/- 2i c.458-52G>T r.(=) p.(=) - benign g.48022981G>T g.47795842G>T - - MSH6_000041 Insight class: 1 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
?/? 2i c.458-17A>G r.(=) p.(=) - VUS g.48023016A>G g.47795877A>G - - MSH6_000767 Insight class: 3 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+?/+? 2i c.458-1G>A r.spl? p.? - likely pathogenic g.48023032G>A g.47795893G>A - - MSH6_000595 Insight class: 4 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/+ 2i_3i c.(457+1_458-1)_(627+1_628-1)del r.(?) p.(Ser154Argfs*8) - pathogenic g.(48018263_48023032)_(48023203_48025749)del - - - MSH6_000336 Insight class: 5 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/+ 2i_6i c.(457+1_458-1)_(3556+1_3557-1)del r.(?) p.(Ser154_Gly1186del) - pathogenic g.(48018263_48023032)_(48032167_48032756)del - - - MSH6_000831 Insight class: 5 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
?/. 2i_10_ c.(457+1_458-1)_(*93_?)del r.? p.? - VUS g.(48018263_48023032)_(48034092_?)del - - - MSH6_000176 Not classified DUPLICATE – to be removed - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/+ 3 c.467C>G r.(?) p.(Ser156*) - pathogenic g.48023042C>G g.47795903C>G - - MSH6_000046 Insight class: 5 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
?/. 3 c.468_471del r.(?) p.(Glu158Profs*15) - VUS g.48023043_48023046del g.47795904_47795907del - - MSH6_000127 Not classified DUPLICATE – to be removed - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
?/? 3 c.483G>A r.(=) p.(=) - VUS g.48023058G>A g.47795919G>A - - MSH6_000596 Insight class: 3 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
?/? 3 c.498C>T r.(=) p.(=) - VUS g.48023073C>T g.47795934C>T - - MSH6_000337 Insight class: 3 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/+ 3 c.522_523del r.(?) p.(Arg174Serfs*7) - pathogenic g.48023097_48023098del g.47795958_47795959del - - MSH6_000662 Insight class: 5 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
-/- 3 c.540T>C r.(=) p.(=) - benign g.48023115T>C g.47795976T>C - - MSH6_000928 Insight class: 1 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
?/? 3 c.553A>G r.(?) p.(Lys185Glu) - VUS g.48023128A>G g.47795989A>G - - MSH6_000631 Insight class: 3 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
?/. 3 c.560A>C r.(?) p.(Lys187Thr) - VUS g.48023135A>C g.47795996A>C - - MSH6_000598 - DUPLICATE – to be removed - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
?/? 3 c.583G>T r.(?) p.(Val195Phe) - VUS g.48023158G>T g.47796019G>T - - MSH6_000599 Insight class: 3 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/+ 3 c.599C>A r.(?) p.(Ser200*) - pathogenic g.48023174C>A g.47796035C>A - - MSH6_000600 Insight class: 5 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
?/? 3 c.603G>A r.(=) p.(=) - VUS g.48023178G>A g.47796039G>A - - MSH6_000602 Insight class: 3 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
?/. 3 c.620del r.(?) p.(Glu207Glyfs*4) - VUS g.48023195del g.47796056del - - MSH6_000038 - DUPLICATE – to be removed - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
?/. 3 c.622A>G r.(?) p.(Met208Val) - VUS g.48023197A>G g.47796058A>G - - MSH6_000080 - DUPLICATE – to be removed - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
?/. 3i c.627+25_627+27del r.(=) p.(=) - VUS g.48023227_48023229del g.47796088_47796090del - - MSH6_000128 Not classified DUPLICATE – to be removed - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
-/- 3i c.627+1200T>C r.(=) p.(=) - benign g.48024402T>C g.47797263T>C - - MSH6_000603 Insight class: 1 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
-/- 3i c.628-874C>T r.(=) p.(=) - benign g.48024876C>T g.47797737C>T - - MSH6_000605 Insight class: 1 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
-/- 3i c.628-56C>T r.(=) p.(=) - benign g.48025694C>T g.47798555C>T - - MSH6_000050 Insight class: 1 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
?/. 3i c.628-17C>A r.(=) p.(=) - VUS g.48025733C>A g.47798594C>A - - MSH6_000108 - DUPLICATE – to be removed - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
?/. 3i c.628-7C>A r.(=) p.(=) - VUS g.48025743C>A g.47798604C>A - - MSH6_000130 Not classified DUPLICATE – to be removed - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/+ 4 c.642C>A r.(?) p.(Tyr214*) - pathogenic g.48025764C>A g.47798625C>A - - MSH6_000607 Insight class: 5 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/+ 4 c.642C>G r.(?) p.(Tyr214*) - pathogenic g.48025764C>G g.47798625C>G - - MSH6_000608 Insight class: 5 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
-/- 4 c.642C>T r.(=) p.(=) - benign g.48025764C>T g.47798625C>T - - MSH6_000161 Insight class: 1 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
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