All transcript variants in gene MLH1


MLH1 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 We encourage submission of relevant unpublished information to assist in the classification of variants via LOVD or this template which can be emailed to the curator.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_000249.3 transcript reference sequence.

976 entries on 10 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     
+/+ 5i_8i c.[453+625_545+921delinsTG;545+1271_677+737delinsCA] r.? p.Val152Argfs*8 InSiGHT pathogenic g.[37049179_37051317delinsTG;37051667_37054327delinsCA] - - - MLH1_001305 Insight class: 5 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/+ _1_19_ c.-73960_*46597del r.0? p.0? InSiGHT pathogenic g.36961079_37138741del - - - MLH1_000959 Insight class: 5 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
-/- _1 c.-4864C>A r.(=) p.(=) InSiGHT benign g.37030175C>A - - - MLH1_000938 Insight class: 1 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/+ _1_2i c.-381_207+606del r.0? p.0? InSiGHT pathogenic g.37034658_37038806del - - - MLH1_000944 Insight class: 5 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
-?/-? _1 c.-269C>G r.(=) p.(=) InSiGHT likely benign g.37034770C>G - - - MLH1_000002 Insight class: 2 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/+ _1_1i c.(?_-198)_(116+1_117-1)del r.0? p.0? InSiGHT pathogenic g.(?_37034841)_(37035155_37038109)del - - - MLH1_000941 Insight class: 5 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
?/? _1_1i c.(?_-198)_(116+1_117-1)dup r.0? p.0? InSiGHT VUS g.(?_37034841)_(37035155_37038109)dup - - - MLH1_000942 Insight class: 3 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/+ _1_2i c.(?_-198)_(207+1_208-1)del r.0? p.0? InSiGHT pathogenic g.(?_37034841)_(37038201_37042445)del - - - MLH1_001607 Insight class: 5 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/+ _1_3i c.(?_-198)_(306+1_307-1)del r.0? p.0? InSiGHT pathogenic g.(?_37034841)_(37042545_37045891)del - - - MLH1_000946 Insight class: 5 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/+ _1_4i c.(?_-198)_(380+1_381-1)del r.0? p.0? InSiGHT pathogenic g.(?_37034841)_(37045966_37048481)del - - - MLH1_001570 Insight class: 5 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/+ _1_6i c.(?_-198)_(545+1_546-1)del r.0? p.0? InSiGHT pathogenic g.(?_37034841)_(37050397_37053310)del - - - MLH1_001724 Insight class: 5 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/+ _1_10i c.(?_-198)_(884+1_885-1)del r.0? p.0? InSiGHT pathogenic g.(?_37034841)_(37059091_37061800)del - - - MLH1_000949 Insight class: 5 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/+ _1_11i c.(?_-198)_(1038+1_1039-1)del r.0? p.0? InSiGHT pathogenic g.(?_37034841)_(37061955_37067127)del - - - MLH1_001667 Insight class: 5 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/+ _1_13i c.(?_-198)_(1558+1_1559-1)del r.0? p.0? InSiGHT pathogenic g.(?_37034841)_(37070424_37081676)del - - - MLH1_000013 Insight class: 5 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/+ _1_15i c.(?_-198)_(1731+1_1732-1)del r.0? p.0? InSiGHT pathogenic g.(?_37034841)_(37083823_37089009)del - - - MLH1_001614 Insight class: 5 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/+ _1_19_ c.(?_-198)_(*193_?)del r.0? p.0? InSiGHT pathogenic g.(?_37034841)_(37092337_?)del - - - MLH1_001571 Insight class: 5 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
-?/-? 1 c.-107C>G r.(?) p.(=) InSiGHT likely benign g.37034932C>G - - - MLH1_000937 Insight class: 2 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
-/- 1 c.-93G>A r.(?) p.(=) InSiGHT benign g.37034946G>A - - - MLH1_001761 Insight class: 1 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
?/? 1 c.-64G>T r.(?) p.(=) InSiGHT VUS g.37034975G>T - - - MLH1_001496 Insight class: 3 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
?/? 1 c.-53G>T r.(?) p.(=) InSiGHT VUS g.37034986G>T - - - MLH1_001451 Insight class: 3 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
?/? 1 c.-42C>T r.? p.(=) InSiGHT VUS g.37034997C>T - - - MLH1_001591 Insight class: 3 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
?/? 1 c.-28A>G r.(?) p.(=) InSiGHT VUS g.37035011A>G - - - MLH1_000936 Insight class: 3 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
?/? 1 c.-28A>T r.(?) p.(=) InSiGHT VUS g.37035011A>T - - - MLH1_000945 Insight class: 3 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/+ 1 c.-27C>A r.-27c>a p.0 - pathogenic g.37035012C>A - - - MLH1_001521 Insight class: 5 Pathogenic for haplotype c.[-27C>A(;)85G>T] InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
?/? 1 c.-7C>T r.(?) p.(=) InSiGHT VUS g.37035032C>T - - - MLH1_000939 Insight class: 3 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/+ 1 c.1A>G r.(?) p.? InSiGHT pathogenic g.37035039A>G - - - MLH1_001457 Insight class: 5 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/+ 1 c.2T>A r.(?) p.0? InSiGHT pathogenic g.37035040T>A - - - MLH1_000031 Insight class: 5 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/+ 1 c.2T>C r.(?) p.0? InSiGHT pathogenic g.37035040T>C - - - MLH1_001488 Insight class: 5 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/+ 1 c.2T>G r.(?) p.0? InSiGHT pathogenic g.37035040T>G - - - MLH1_000032 Insight class: 5 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/+ 1 c.3G>A r.(?) p.? InSiGHT pathogenic g.37035041G>A - - - MLH1_000960 Insight class: 5 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/+ 1 c.5C>A r.(?) p.(Ser2*) InSiGHT pathogenic g.37035043C>A - - - MLH1_000853 Insight class: 5 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/+ 1 c.9del r.(?) p.Phe3Leufs*14 InSiGHT pathogenic g.37035047del - - - MLH1_000966 Insight class: 5 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/+ 1 c.15_28del r.(?) p.(Gly6Alafs*20) InSiGHT pathogenic g.37035053_37035066del - - - MLH1_000956 Insight class: 5 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/+ 1 c.18_34del r.(?) p.(Val7Argfs*18) InSiGHT pathogenic g.37035056_37035072del - - - MLH1_000029 Insight class: 5 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/+ 1 c.19_35del r.(?) p.(Val7Argfs*18) InSiGHT pathogenic g.37035057_37035073del - - - MLH1_000030 Insight class: 5 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/+ 1 c.22dup r.(?) p.(Ile8Asnfs*23) InSiGHT pathogenic g.37035060dup - - - MLH1_001410 Insight class: 5 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
?/? 1 c.25C>T r.25c>u p.Arg9Trp InSiGHT VUS g.37035063C>T - - - MLH1_001506 Insight class: 3 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/+ 1 c.31del r.(?) p.(Leu11Trpfs*6) InSiGHT pathogenic g.37035069del - - - MLH1_000957 Insight class: 5 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/+ 1 c.37del r.(?) p.(Glu13Argfs*4) InSiGHT pathogenic g.37035075del - - - MLH1_000034 Insight class: 5 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/+ 1 c.37G>T r.(?) p.(Glu13*) InSiGHT pathogenic g.37035075G>T - - - MLH1_000852 Insight class: 5 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/+ 1 c.38_39insCCCA r.(?) p.(Glu13Aspfs*19) InSiGHT pathogenic g.37035076_37035077insCCCA - - - MLH1_000958 Insight class: 5 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/+ 1 c.39_40dup r.(?) p.(Thr14Argfs*4) InSiGHT pathogenic g.37035077_37035078dup - - - MLH1_000835 Insight class: 5 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/+ 1 c.44dup r.(?) p.(Val16Glyfs*15) InSiGHT pathogenic g.37035082dup - - - MLH1_000036 Insight class: 5 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/+ 1 c.52del r.(?) p.(Arg18Alafs*18) InSiGHT pathogenic g.37035090del - - - MLH1_000961 Insight class: 5 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/+ 1 c.55A>T r.(?) p.(Ile19Phe) InSiGHT pathogenic g.37035093A>T - - - MLH1_000038 Insight class: 5 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/+ 1 c.61del r.(?) p.(Ala21Argfs*15) InSiGHT pathogenic g.37035099del - - - MLH1_000962 Insight class: 5 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/+ 1 c.62C>A r.(?) p.(Ala21Glu) InSiGHT pathogenic g.37035100C>A - - - MLH1_000930 Insight class: 5 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/+ 1 c.62C>T r.(?) p.(Ala21Val) InSiGHT pathogenic g.37035100C>T - - - MLH1_000040 Insight class: 5 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
-/- 1 c.65G>C r.(?) p.(Gly22Ala) InSiGHT benign g.37035103G>C - - - MLH1_001732 Insight class: 1 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/+ 1 c.67del r.(?) p.(Glu23Lysfs*13) InSiGHT pathogenic g.37035105del - - - MLH1_000042 Insight class: 5 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
?/? 1 c.67G>A r.(?) p.(Glu23Lys) InSiGHT VUS g.37035105G>A - - - MLH1_000043 Insight class: 3 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/+ 1 c.67G>T r.[66_116del, 67g>u] p.[Glu23*, Glu23_Cys39del] InSiGHT pathogenic g.37035105G>T - - - MLH1_001455 Insight class: 5 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/+ 1 c.68_78del r.(?) p.(Glu23Alafs*4) InSiGHT pathogenic g.37035106_37035116del - - - MLH1_001650 Insight class: 5 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
?/? 1 c.69A>T r.(?) p.(Glu23Asp) InSiGHT VUS g.37035107A>T - - - MLH1_000046 Insight class: 3 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/+ 1 c.70del r.(?) p.(Val24Leufs*12) InSiGHT pathogenic g.37035108del - - - MLH1_001349 Insight class: 5 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+?/+? 1 c.73A>T r.(?) p.(Ile25Phe) InSiGHT likely pathogenic g.37035111A>T - - - MLH1_000048 Insight class: 4 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/+ 1 c.73del r.(?) p.(Ile25Serfs*11) InSiGHT pathogenic g.37035111del - - - MLH1_000049 Insight class: 5 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
?/? 1 c.74T>C r.(?) p.(Ile25Thr) InSiGHT VUS g.37035112T>C - - - MLH1_000050 Insight class: 3 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/+ 1 c.76C>T r.(?) p.(Gln26*) InSiGHT pathogenic g.37035114C>T - - - MLH1_000963 Insight class: 5 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/+ 1 c.76del r.(?) p.(Gln26Serfs*10) InSiGHT pathogenic g.37035114del - - - MLH1_000052 Insight class: 5 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/+ 1 c.78del r.(?) p.(Gln26Hisfs*10) InSiGHT pathogenic g.37035116del - - - MLH1_001408 Insight class: 5 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
?/? 1 c.80G>C r.(?) p.(Arg27Pro) InSiGHT VUS g.37035118G>C - - - MLH1_000931 Insight class: 3 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/+ 1 c.83C>T r.(?) p.(Pro28Leu) InSiGHT pathogenic g.37035121C>T - - - MLH1_000053 Insight class: 5 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/+ 1 c.84del r.(?) p.(Ala29Leufs*7) InSiGHT pathogenic g.37035122del - - - MLH1_000854 Insight class: 5 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/+ 1 c.85G>T r.(?) p.(Ala29Ser) - pathogenic g.37035123G>T - - - MLH1_000054 Insight class: 5 Pathogenic for haplotype c.[-27C>A(;)85G>T] InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/+ 1 c.86C>G r.[86_116del, 86_121del] p.[Ala29Valfs*2, Ala29_Leu40del] InSiGHT pathogenic g.37035124C>G - - - MLH1_000964 Insight class: 5 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
?/? 1 c.91_92delinsTG r.? p.(Ala31Cys) InSiGHT VUS g.37035129_37035130delinsTG - - - MLH1_000965 Insight class: 3 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
?/? 1 c.94A>G r.(?) p.(Ile32Val) InSiGHT VUS g.37035132A>G - - - MLH1_000057 Insight class: 3 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/+ 1 c.102_103del r.(?) p.(Glu34Aspfs*3) InSiGHT pathogenic g.37035140_37035141del - - - MLH1_000019 Insight class: 5 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/+ 1 c.104T>G r.(?) p.(Met35Arg) InSiGHT pathogenic g.37035142T>G - - - MLH1_000952 Insight class: 5 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/+ 1 c.104_105delinsAC r.(?) p.(Met35Asn) InSiGHT pathogenic g.37035142_37035143delinsAC - - - MLH1_000951 Insight class: 5 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/+ 1 c.104_105insAA r.? p.(Met35Ilefs*7) InSiGHT pathogenic g.37035142_37035143insAA - - - MLH1_000953 Insight class: 5 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
?/? 1 c.107T>A r.(?) p.(Ile36Asn) InSiGHT VUS g.37035145T>A - - - MLH1_000954 Insight class: 3 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
?/? 1 c.109G>A r.? p.(Glu37Lys) InSiGHT VUS g.37035147G>A - - - MLH1_000817 Insight class: 3 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/+ 1 c.109G>T r.(?) p.(Glu37*) InSiGHT pathogenic g.37035147G>T - - - MLH1_000024 Insight class: 5 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/+ 1 c.112A>C r.? p.(Asn38His) InSiGHT pathogenic g.37035150A>C - - - MLH1_001696 Insight class: 5 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
?/? 1 c.112A>G r.(?) p.(Asn38Asp) InSiGHT VUS g.37035150A>G - - - MLH1_000818 Insight class: 3 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/+ 1 c.113A>G r.(?) p.(Asn38Ser) InSiGHT pathogenic g.37035151A>G - - - MLH1_001513 Insight class: 5 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+?/+? - c.114C>A r.(?) p.(Asn38Lys) - likely pathogenic g.37035152C>A - - - MLH1_001814 Insight class: 4 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/+ 1 c.114C>G r.? p.(Asn38Lys) InSiGHT pathogenic g.37035152C>G - - - MLH1_001690 Insight class: 5 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
?/? 1 c.115T>C r.(?) p.(Cys39Arg) InSiGHT VUS g.37035153T>C - - - MLH1_000834 Insight class: 3 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+?/? 1 c.116G>A r.spl? p.(Cys39Tyr) InSiGHT VUS g.37035154G>A - - - MLH1_001456 Insight class: 3 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
?/? 1 c.116G>T r.spl? p.(Cys39Phe) InSiGHT VUS g.37035154G>T - - - MLH1_000026 Insight class: 3 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+?/+? 1i c.116+1G>A r.spl p.? InSiGHT likely pathogenic g.37035155G>A - - - MLH1_001553 Insight class: 4 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/+ 1i c.116+5G>C r.spl? p.? InSiGHT pathogenic g.37035159G>C - - - MLH1_001083 Insight class: 5 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
?/? 1i c.116+56C>G r.(?) p.(=) InSiGHT VUS g.37035210C>G - - - MLH1_000819 Insight class: 3 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
?/? 1i c.116+63T>G r.(?) p.(=) InSiGHT VUS g.37035217T>G - - - MLH1_000820 Insight class: 3 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/+ 1i_6i c.117-707_545+1338delinsTCCCGGGTTCAAGCGATTCT r.117_545del p.Cys39_Arg182delinsTrp InSiGHT pathogenic g.37037403_37051734delinsTCCCGGGTTCAAGCGATTCT - - - MLH1_000898 Insight class: 5 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/+ 1i_3i c.117-691_306+1011del r.117_306del p.Cys39Trpfs*6 InSiGHT pathogenic g.37037419_37043555del - - - MLH1_000065 Insight class: 5 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
-?/-? 1i c.117-43_117-39del r.= p.= InSiGHT likely benign g.37038067_37038071del - - - MLH1_001087 Insight class: 2 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
?/? 1i c.117-11T>A r.117_207del p.(Cys39*) InSiGHT VUS g.37038099T>A - - - MLH1_001085 Insight class: 3 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/+ - c.117-2A>G r.spl? p.? - pathogenic g.37038108A>G - - - MLH1_001534 Insight class: 5 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+?/+? 1i c.117-1G>T r.spl p.? - likely pathogenic g.37038109G>T - - - MLH1_001815 Insight class: 4 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/+ 1i_2i c.(116+1_117-1)_(207+1_208-1)del r.? p.? InSiGHT pathogenic g.(37035155_37038109)_(37038201_37042445)del - - - MLH1_000934 Insight class: 5 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
?/? 1i_3i c.(116+1_117-1)_(306+1_307-1)dup r.? p.? InSiGHT VUS g.(37035155_37038109)_(37042545_37045891)dup - - - MLH1_000932 Insight class: 3 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/+ 1i_4i c.(116+1_117-1)_(380+1_381-1)del r.? p.(Cys39*) InSiGHT pathogenic g.(37035155_37038109)_(37045966_37048481)del - - - MLH1_001433 Insight class: 5 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/+ 1i_6i c.(116+1_117-1)_(545+1_546-1)del r.? p.(Cys39_Arg182delinsTrp) InSiGHT pathogenic g.(37035155_37038109)_(37050397_37053310)del - - - MLH1_001642 Insight class: 5 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/+ 2 c.119del r.(?) p.(Leu40*) InSiGHT pathogenic g.37038112del - - - MLH1_000899 Insight class: 5 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/+ 2 c.121G>C r.121g>c p.Asp41His InSiGHT pathogenic g.37038114G>C - - - MLH1_001785 Insight class: 5 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/+ 2 c.122A>G r.117_207del p.Cys39* InSiGHT pathogenic g.37038115A>G - - - MLH1_000067 Insight class: 5 InSiGHT - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
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