All transcript variants in gene MSH6


Criteria used for classification are available from 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 We encourage submission of relevant unpublished information to assist in the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.

3543 entries on 36 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     
?/. - c.1094ˆ1095G>A VUS r.(?) p.(Trp365*) g.48026216ˆ48026217G>A - p.Trp365X - MSH6_000934 identified in a glioblastoma multiforme tumour sample PubMed: Maxwell 2008 - - Somatic - - - 0 - Michael Woods
?/? 1 c.-13022_-1711del VUS r.? p.? g.47997351_48008662del - - - MSH6_000012 Insight class: 3 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
?/. 1 c.-13022_-1711del VUS r.? p.? g.47997351_48008662del - - - MSH6_000012 - PubMed: van der Klift 2005 - - Germline - - - 0 - Carli Tops
+/+ 1_2i c.-11863_457+1921del pathogenic r.? p.? g.47998510_48020183del - - - MSH6_000002 Insight class: 5 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/. 1_2i c.-11863_457+1921del pathogenic r.? p.? g.47998510_48020183del - - - MSH6_000002 21.6 Kb deletion exon 1-2 PubMed: van der Klift 2005 - - Germline - - - 0 - Carli Tops
+/+ 1_2i c.-3097_457+2010del pathogenic r.? p.? g.48007276_48020272del - - - MSH6_000003 Insight class: 5 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/. 1_2i c.-3097_457+2010del pathogenic r.? p.? g.48007276_48020272del - - - MSH6_000003 13.0 Kb deletion promoter to exon 2 PubMed: Plaschke 2003 - - Germline - - - 0 - Michael Woods
+/. 1_2i c.-3097_457+2010del pathogenic r.? p.? g.48007276_48020272del - - - MSH6_000003 13.0 Kb deletion promoter to exon 2 PubMed: Plaschke 2004 - - Germline - - - 0 - Michael Woods
-/- 1 c.-557T>G benign r.(=) p.(=) g.48009816T>G - - - MSH6_000597 Insight class: 1 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
?/. 1 c.-557T>G VUS r.(=) p.(=) g.48009816T>G - -556G>T (rs3136228) - MSH6_000597 - PubMed: Tulupova 2008 - - Germline - - - 0 - Michael Woods
?/. 1 c.-557T>G VUS r.(=) p.(=) g.48009816T>G - -556G>T (rs3136228) - MSH6_000597 - PubMed: Tulupova 2008 - - Germline - - - 0 - Michael Woods
?/. 1 c.-557T>G VUS r.(=) p.(=) g.48009816T>G - -556G>T - MSH6_000597 - PubMed: Gazzoli 2003 - - Germline - - - 0 - Michael Woods
?/. 1 c.-557T>G VUS r.(=) p.(=) g.48009816T>G - -556G>T (rs3136228) - MSH6_000597 - PubMed: Tulupova 2008 - - Germline - - - 0 - Michael Woods
-/. - c.-448G>A benign r.(=) p.(=) g.48009925G>A g.47782786G>A - - MSH6_000591 found homozygeous; c.-159C>T und c.-448G>A - - - Germline - - - 0 - Andreas Laner
-/- 1 c.-448G>A benign r.(=) p.(=) g.48009925G>A - - - MSH6_000591 Insight class: 1 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
?/. 1 c.-448G>A VUS r.(=) p.(=) g.48009925G>A - - - MSH6_000591 Functional studies indicate Inactivation of two splice1 sites; Authors describe this as a polymorphism PubMed: Gazzoli 2003 - - Germline - - - 0 - Michael Woods
-/- 1 c.-210C>T benign r.(=) p.(=) g.48010163C>T - - - MSH6_000429 Insight class: 1 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
?/. 1 c.-210C>T VUS r.(=) p.(=) g.48010163C>T - - - MSH6_000429 Functional studies indicate Inactivation of splice1 site PubMed: Gazzoli 2003 - - Germline - - - 0 - Michael Woods
-/- 1 c.-159C>T benign r.(=) p.(=) g.48010214C>T - - - MSH6_000401 Insight class: 1 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
?/. 1 c.-159C>T VUS r.(=) p.(=) g.48010214C>T - - - MSH6_000401 - PubMed: Mrkonjic 2007 - - Germline - - - 0 - Michael Woods
?/. 1 c.-159C>T VUS r.(=) p.(=) g.48010214C>T - - - MSH6_000401 - PubMed: Mrkonjic 2007 - - Germline - - - 0 - Michael Woods
?/. 1 c.-159C>T VUS r.(=) p.(=) g.48010214C>T - - - MSH6_000401 - PubMed: Peterlongo 2003 - - Germline - - - 0 - Michael Woods
?/. 1 c.-159C>T VUS r.(=) p.(=) g.48010214C>T - - - MSH6_000401 - PubMed: Mrkonjic 2007 - - Germline - - - 0 - Michael Woods
?/. _1_1i c.(?_-152)_(260+1_261-1)del VUS r.? p.? g.(?_48010221)_(48010633_48018065)del - - - MSH6_000174 Not classified DUPLICATE – to be removed - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/. _1_1i c.(?_-152)_(260+1_261-1)del pathogenic r.? p.? g.(?_48010221)_(48010633_48018065)del - (?_-152)_260+?del/Del exon 1 - MSH6_000174 - - - - Germline - - - 0 - Thomas Hansen
+/+ _1_2i c.(?_-152)_(457+1_458-1)del pathogenic r.? p.? g.(?_48010221)_(48018263_48023032)del - - - MSH6_000001 Insight class: 5 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/. _1_2i c.(?_-152)_(457+1_458-1)del pathogenic r.? p.? g.(?_48010221)_(48018263_48023032)del - 1-?_475+?del - MSH6_000001 deletion of exon 1-2 PubMed: Kets 2006 - - Germline - - - 0 - Michael Woods
+/. _1_2i c.(?_-152)_(457+1_458-1)del pathogenic r.? p.? g.(?_48010221)_(48018263_48023032)del - - - MSH6_000001 - PubMed: Overbeek 2007 - - Germline - - - 0 - Michael Woods
+/. _1_2i c.(?_-152)_(457+1_458-1)del pathogenic r.? p.? g.(?_48010221)_(48018263_48023032)del - 1-?_457+?del - MSH6_000001 deletion of 21.6 kb around exon 1+2, in cis with c.2008G>A,p.Gly670Arg Carli Tops - - Germline - - - 0 - INSiGHT group
+/. _1_2i c.(?_-152)_(457+1_458-1)del pathogenic r.? p.? g.(?_48010221)_(48018263_48023032)del - MSH6:(?_-152)_457+?del breakpoint not tested - MSH6_000001 - Daniela Barana - - Germline - - - 0 - INSiGHT group
+/+ _1_10_ c.(?_-152)_(*93_?)del pathogenic r.? p.? g.(?_48010221)_(48034092_?)del - - - MSH6_000911 Insight class: 5 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/. _1_10_ c.(?_-152)_(*93_?)del pathogenic r.? p.? g.(?_48010221)_(48034092_?)del - - - MSH6_000911 deletion entire gene PubMed: Nilbert 2008 - - Germline - - - 0 - Michael Woods
+?/. _1_10_ c.(?_-152)_(*93_?)del likely pathogenic r.? p.? g.(?_48010221)_(48034092_?)del - - - MSH6_000911 - - - - Germline - - - 0 - Amanda Spurdle
+/. _1_10_ c.(?_-152)_(*93_?)del pathogenic r.? p.? g.(?_48010221)_(48034092_?)del - del MSH2 ex1_16, delTACSTD1-15,-27, del MSH6 - MSH6_000911 - - - - Germline - - - 0 - Carli Tops
+/. _1_10_ c.(?_-152)_(*93_?)del pathogenic r.? p.? g.(?_48010221)_(48034092_?)del - (?_-152)_(*93_?)del/Del exon 1-10 - MSH6_000911 - {PMID:Nilbert Fam Cancer. 2009;8(1):75-83.:18566915} - - Germline - - - 0 - Thomas Hansen
?/. 1 c.-118G>A VUS r.(=) p.(=) g.48010255G>A - - - MSH6_000121 Not classified DUPLICATE – to be removed - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
?/. 1 c.-118G>A VUS r.(=) p.(=) g.48010255G>A - -118G>A - MSH6_000121 - - - - Germline - - - 0 - Thomas Hansen
?/. 1 c.-118G>A VUS r.(=) p.(=) g.48010255G>A - -118G>A - MSH6_000121 - - - - Germline - - - 0 - Thomas Hansen
-?/-? 1 c.-88G>A likely benign r.(=) p.(=) g.48010285G>A - - - MSH6_000792 Insight class: 2 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
?/. 1 c.-88G>A VUS r.(=) p.(=) g.48010285G>A - - - MSH6_000792 - - - - Germline - - - 0 - Hanno Roomere
?/? 1 c.-18G>T VUS r.(=) p.(=) g.48010355G>T - - - MSH6_000006 Insight class: 3 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
?/. 1 c.-18G>T VUS r.(=) p.(=) g.48010355G>T - - - MSH6_000006 - - - - Germline - - - 0 - Carli Tops
?/. 1 c.-18G>T VUS r.(=) p.(=) g.48010355G>T - - - MSH6_000006 - PubMed: Lamberti 2006 - - Germline - - - 0 - Michael Woods
?/? 1 c.-8C>T VUS r.(=) p.(=) g.48010365C>T - - - MSH6_000770 Insight class: 3 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
?/. 1 c.-8C>T VUS r.(=) p.(=) g.48010365C>T - - - MSH6_000770 - - - - Germline - - - 0 - Bert Redeker
+/. _1_3i c.(?_-1)_(645+1_646-1)del pathogenic r.? p.0? g.? - 1?_645+?del - MSH6_000893 Submitter has reported the nomenclature for deletion of MSH2 exon 1 to 3 not MSH6 - - - Germline - - - 0 - José Luis Soto
?/. _1_6i c.(?_-1)_(3556+1_3557-1)del VUS r.? p.? g.(?_48010373)_(48032167_48032756)del - - - MSH6_000084 - DUPLICATE – to be removed - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/. _1_6i c.(?_-1)_(3556+1_3557-1)del pathogenic r.? p.? g.(?_48010373)_(48032167_48032756)del - - - MSH6_000084 Submitted by ICCon – South Australia - - - Germline - - - 0 - ICCon
+/. - c.(?_-152)_ (260+1_261-1)del pathogenic r.? p.? g.(?_48010221)_(48010633_48018065)del - 1-?_ 260 +?del - MSH6_000174 - PubMed: Ziada-Bouchaar 2016 - - Germline - - - 0 - Ziada-Bouchaar Hadia
?/. _1_2i c.(?_1)_(457+1_458-1)del VUS r.? p.? g.(?_48010373)_(48018263_48023032)del - - - MSH6_000042 - DUPLICATE – to be removed - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/. _1_2i c.(?_1)_(457+1_458-1)del pathogenic r.? p.? g.(?_48010373)_(48018263_48023032)del - - - MSH6_000042 ICCON data, Westmead, NSW - - - Germline - - - 0 - InSiGHT - John-Paul Plazzer
+?/+? 1 c.3G>T likely pathogenic r.? p.? g.48010375G>T - - - MSH6_000056 Insight class: 4 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/. 1 c.3G>T pathogenic r.? p.? g.48010375G>T - - - MSH6_000056 Proband also carries the MSH6 VLP p.R1242H in trans with p.M1? and the MSH6 VLB p.N21K in cis with p.M1? - - - Germline - - - 0 - InSiGHT - John-Paul Plazzer
+/. 1 c.3G>T pathogenic r.? p.? g.48010375G>T - - - MSH6_000056 Proband also carries the MSH6 VLB p.N21K - - - Germline - - - 0 - InSiGHT - John-Paul Plazzer
+/. 1 c.3G>T pathogenic r.? p.? g.48010375G>T - - - MSH6_000056 - - - - Germline - - - 0 - InSiGHT - John-Paul Plazzer
+/. 1 c.3G>T pathogenic r.? p.? g.48010375G>T - - - MSH6_000056 co-occurrence with MSH2 c.408DELT mutation - - - Germline - - - 0 - InSiGHT - John-Paul Plazzer
+/. 1 c.23_26del pathogenic r.(?) p.Tyr8SerfsTer8 g.48010395_48010398del - 23_26delACAG - MSH6_000913 WT MaxEntScan score: 7.38; Variant MaxEntScan score: 7.38; Difference in MaxEntScan score between variant and WT (%): 0 PubMed: Rossi 2017 - - Germline - - - 0 - Mev Dominguez Valentin
?/? 1 c.38A>C VUS r.(?) p.(Lys13Thr) g.48010410A>C - - - MSH6_000033 Insight class: 3 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
?/. 1 c.38A>C VUS r.(?) p.(Lys13Thr) g.48010410A>C - K13T - MSH6_000033 0/1104 controls PubMed: Barnetson 2008 - - Germline - - - 0 - Michael Woods
?/. 1 c.38A>C VUS r.(?) p.(Lys13Thr) g.48010410A>C - K13T - MSH6_000033 ClustalW AA not conserved PubMed: Barnetson 2008 - - In silico - - - 0 - Rolf Sijmons
?/. 1 c.38A>C VUS r.(?) p.(Lys13Thr) g.48010410A>C - K13T - MSH6_000033 PolyPhen possibly damaging PubMed: Barnetson 2008 - - In silico - - - 0 - Rolf Sijmons
?/. 1 c.38A>C VUS r.(?) p.(Lys13Thr) g.48010410A>C - K13T - MSH6_000033 SIFT score intolerant PubMed: Barnetson 2008 - - In silico - - - 0 - Rolf Sijmons
?/. 1 c.44C>T VUS r.(?) p.Pro15Leu g.48010416C>T - 44C>T - MSH6_000914 WT MaxEntScan score: 7.38; Variant MaxEntScan score: 7.38; Difference in MaxEntScan score between variant and WT (%): 0 ClinVar, PubMed: Rossi 2017 - - Germline - - - 0 - Mev Dominguez Valentin
-/. - c.59C>T benign r.(?) p.(Ala20Val) g.48010431C>T g.47783292C>T - - MSH6_000591 - - - - Germline - - - 0 - Andreas Laner
-?/. - c.59C>T likely benign r.(?) p.(Ala20Val) g.48010431C>T - MSH6:c.59C>T (A20V) - MSH6_000591 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
?/? 1 c.59C>T VUS r.(?) p.(Ala20Val) g.48010431C>T - - - MSH6_000591 Insight class: 3 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
?/. 1 c.59C>T VUS r.(?) p.(Ala20Val) g.48010431C>T - - - MSH6_000591 - PubMed: Charames 2000 - - Germline - - - 0 - Michael Woods
?/. 1 c.59C>T VUS r.(?) p.(Ala20Val) g.48010431C>T - - - MSH6_000591 - PubMed: Nilbert 2008 - - Germline - - - 0 - Michael Woods
?/. 1 c.59C>T VUS r.(?) p.(Ala20Val) g.48010431C>T - 59C>T - MSH6_000591 - {PMID:Nilbert Fam Cancer. 2009;8(1):75-83.:18566915} - - Germline - - - 0 - Thomas Hansen
?/. 1 c.59C>T VUS r.(?) p.(Ala20Val) g.48010431C>T - 59C>T - MSH6_000591 - - - - Germline - - - 0 - Thomas Hansen
?/. 1 c.59C>T VUS r.(?) p.(Ala20Val) g.48010431C>T - 59C>T - MSH6_000591 MMR activity Drost Hum Mutat 2012 33: 488-494. - - In vitro (cloned) - - - 0 - INSiGHT group
?/? 1 c.62A>G VUS r.(?) p.(Asn21Ser) g.48010434A>G - - - MSH6_000606 Insight class: 3 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
?/. 1 c.62A>G VUS r.(?) p.(Asn21Ser) g.48010434A>G - - - MSH6_000606 - PubMed: Nilbert 2008,PubMed: Okkels 2012 - - Germline - - - 0 - Michael Woods
?/. 1 c.63C>G VUS r.(?) p.(Asn21Lys) g.48010435C>G - - - MSH6_000058 - DUPLICATE – to be removed - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
-?/. 1 c.63C>G likely benign r.(?) p.(Asn21Lys) g.48010435C>G - - - MSH6_000058 Proband also carries the MSH6 VLP p.R1242H in trans with p.M1? and the MSH6 VLB p.N21K in cis with p.M1? - - - Germline - - - 0 - InSiGHT - John-Paul Plazzer
-?/. 1 c.63C>G likely benign r.(?) p.(Asn21Lys) g.48010435C>G - - - MSH6_000058 - - - - Germline - - - 0 - InSiGHT - John-Paul Plazzer
+/. 1 c.71C>A pathogenic r.(?) p.(Ser24*) g.48010443C>A - - - MSH6_001168 MSH6 with c.71C>A was found in patient with endometrioid endometrial cancer related Lynch syndrome. - - - Germline - - - 0 - Caixia Ren
-/. - c.73G>T benign r.(?) p.(Ala25Ser) g.48010445G>T g.47783306G>T - - MSH6_000615 - - - - Germline - - - 0 - Andreas Laner
?/. - c.73G>T VUS r.(?) p.(Ala25Ser) g.48010445G>T - MSH6:c.73G>T (A25S) - MSH6_000615 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
?/. - c.73G>T VUS r.(?) p.(Ala25Ser) g.48010445G>T - MSH6:c.73G>T (A25S) - MSH6_000615 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
?/. - c.73G>T VUS r.(?) p.(Ala25Ser) g.48010445G>T - MSH6:c.73G>T (A25S) - MSH6_000615 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
?/. - c.73G>T VUS r.(?) p.(Ala25Ser) g.48010445G>T - MSH6:c.73G>T (A25S) - MSH6_000615 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.73G>T likely benign r.(?) p.(Ala25Ser) g.48010445G>T - MSH6:NM_000179.2:c.73G>T (Ala25Ser) - MSH6_000615 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
?/? 1 c.73G>T VUS r.(?) p.(Ala25Ser) g.48010445G>T - - - MSH6_000615 Insight class: 3 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
?/. 1 c.73G>T VUS r.(?) p.(Ala25Ser) g.48010445G>T - - - MSH6_000615 - PubMed: Nilbert 2008 - - Germline - - - 0 - Michael Woods
?/. 1 c.73G>T VUS r.(?) p.(Ala25Ser) g.48010445G>T - - - MSH6_000615 - - - - Germline - - - 0 - Ans M.W. van den Ouweland
?/. 1 c.73G>T VUS r.(?) p.(Ala25Ser) g.48010445G>T - - - MSH6_000615 - - - - Germline - - - 0 - Ans M.W. van den Ouweland
?/. 1 c.73G>T VUS r.(?) p.(Ala25Ser) g.48010445G>T - - - MSH6_000615 - - - - Germline - - - 0 - Hans Gille
?/. 1 c.73G>T VUS r.(?) p.(Ala25Ser) g.48010445G>T - - - MSH6_000615 Carrier frequency in Iceland (%): 0.51; Odds ratio for CRC (95%CI): 1.04 (0.61-1.76) PubMed: Haraldsdottir 2018 - - Germline - 0.51 - 0 - Sigurdis Haraldsdottir
?/. 1 c.73G>T VUS r.(?) p.(Ala25Ser) g.48010445G>T - 73G>T - MSH6_000615 - {PMID:Nilbert Fam Cancer. 2009;8(1):75-83.:18566915} - - Germline - - - 0 - Thomas Hansen
?/. 1 c.73G>T VUS r.(?) p.(Ala25Ser) g.48010445G>T - 73G>T - MSH6_000615 - - - - Germline - - - 0 - Thomas Hansen
?/. 1 c.73G>T VUS r.(?) p.(Ala25Ser) g.48010445G>T - 73G>T - MSH6_000615 - - - - Germline - - - 0 - Thomas Hansen
?/. 1 c.73G>T VUS r.(?) p.(Ala25Ser) g.48010445G>T - 73G>T - MSH6_000615 MMR activity Drost Hum Mutat 2012 33: 488-494. - - In vitro (cloned) - - - 0 - INSiGHT group
-?/. - c.107C>T likely benign r.(?) p.(Ala36Val) g.48010479C>T - - - MSH6_001166 ACMG grading: BS1, BP2, BP4 (co-occurrence with truncating variant MSH6 c.3202C>T (p.Arg1068*) in a patient; with CRC and no signs of CMMR-D) - - rs61756469 Germline ? - - 0 - Andreas Laner
-?/. - c.107C>T likely benign r.(?) p.Ala36Val g.48010479C>T - - - MSH6_001166 ACMG grading: BP2,BP4,BS1 co-occurrence with truncating variant MSH6 c.3202C>T (p.Arg1068*) in patient with CRC and no signs of CMMR-D - - rs61756469 Germline - - - 0 - Andreas Laner
?/? 1 c.108T>G VUS r.(=) p.(=) g.48010480T>G - - - MSH6_000009 Insight class: 3 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
?/. 1 c.108T>G VUS r.(=) p.(=) g.48010480T>G - T->G at 108 - MSH6_000009 - PubMed: Nicolaides 1996 - - Germline - - - 0 - INSiGHT group
-/. - c.116G>A benign r.(?) p.(Gly39Glu) g.48010488G>A - MSH6:c.116G>A (G39E) - MSH6_000915 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.116G>A benign r.(?) p.(Gly39Glu) g.48010488G>A - MSH6:c.116G>A (G39E) - MSH6_000915 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.116G>A benign r.(?) p.(Gly39Glu) g.48010488G>A - MSH6:c.116G>A (G39E) - MSH6_000915 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_NKI
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