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Recognized gene
MSH6
Normalized c.HGVS
c.1186C>T, c.1217G>A, c.1346T>A, c.1444C>G, c.1508C>T and 44 more
Normalized p.HGVS
p.(Ala1151Val), p.(Ala587Glu), p.(Arg1034Pro), p.(Arg1068Gly), p.(Arg1076Ser) and 44 more
Matching records
1973
PM3-positive records
30
Results are ordered by PM3-relevant evidence first. Reviewed source only indicates whether main text, supplementary material, or both were reviewed; it is not the evidence conclusion.
| Gene | Variant | Evidence | PM3 context | Publication | Reviewed source | Actions |
|---|---|---|---|---|---|---|
| MSH6 |
NM_000179.3:c.4070T>G
|
Phase-confirmed PM3 evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
41127740
Uncovering a Novel Homozygous MSH6 Variant in a Child Presenting With Glioblastoma: A Case of Constitutional Mismatch Repair Deficiency.
Cureus, 2025
|
Main article | |
| MSH6 |
NM_000179.3:c.3259_3261del
|
Phase-confirmed PM3 evidence
Not assessed
|
PM3 evidence identified; partner variant not structured
context: Confirmed in trans
|
34425783
Intensive surveillance endoscopy for multiple gastrointestinal tumors in a patient with constitutional mismatch repair deficiency: case report.
BMC gastroenterology, 2021
|
Main article | |
| MSH6 |
NM_000179.3:c.4070T>G
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
41572278
Clinical and molecular characteristics of constitutional mismatch repair deficiency syndrome: a case series of five children and appraisal of diagnostic guidelines.
Diagnostic pathology, 2026
|
Main article | |
| MSH6 |
NM_000179.3:c.254C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.3869C>T; Ser1290Leu
context: Compound heterozygous candidate
|
40554495
Genetic profiling of inherited colorectal cancer syndromes in Tunisian patients.
PloS one, 2025
|
Main article | |
| MSH6 |
NM_000179.3:c.2653A>C
|
Phase-unconfirmed biallelic evidence
Needs review
|
Homozygous for query variant
context: Homozygous evidence
|
40442269
Genetic landscape of Romanian children with inborn errors of immunity via gene panels, exome, and genome sequencing.
Scientific reports, 2025
|
Main article | |
| MSH6 |
NM_000179.3:c.1771C>A
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with MSH6 splice site mutation; splice site mutation
context: Compound heterozygous candidate
|
38079020
"De novo replication repair deficient glioblastoma, IDH-wildtype" is a distinct glioblastoma subtype in adults that may benefit from immune checkpoint blockade.
Acta neuropathologica, 2023
|
Supplementary material | |
| MSH6 |
NM_000179.3:c.2731C>G
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with frameshift; single nucleotide deletion
context: Compound heterozygous candidate
|
35903677
Case Report: Malignant Brain Tumors in Siblings With MSH6 Mutations.
Frontiers in oncology, 2022
|
Main article | |
| MSH6 |
NM_000179.3:c.3310_3312del
|
Phase-unconfirmed biallelic evidence
Not assessed
|
Possible compound heterozygous with F1088fs; L1330fs; p.Leu1330fs; +1 more
context: Compound heterozygous candidate
|
35860583
Patient Derived Organoids Confirm That PI3K/AKT Signalling Is an Escape Pathway for Radioresistance and a Target for Therapy in Rectal Cancer.
Frontiers in oncology, 2022
|
Supplementary material | |
| MSH6 |
NM_000179.3:c.3572T>C
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.1100A>G; p.(His367Arg)
context: Compound heterozygous candidate
|
33008098
Gene Panel Tumor Testing in Ovarian Cancer Patients Significantly Increases the Yield of Clinically Actionable Germline Variants beyond BRCA1/BRCA2.
Cancers, 2020
|
Main article | |
| MSH6 |
NM_000179.3:c.2018C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.1084C>T; p.(Pro362Ser)
context: Compound heterozygous candidate
|
32941469
The proportion of endometrial tumours associated with Lynch syndrome (PETALS): A prospective cross-sectional study.
PLoS medicine, 2020
|
Main article | |
| MSH6 |
NM_000179.3:c.320C>T
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with W142*
context: Compound heterozygous candidate
|
32118206
Targeted next-generation sequencing of 565 neuro-oncology patients at UCLA: A single-institution experience.
Neuro-oncology advances, 2020
|
Supplementary material | |
| MSH6 |
NM_000179.3:c.1196C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.2061T>G; p.Cys687Trp
context: Compound heterozygous candidate
|
32642664
Constitutional mismatch repair deficiency-associated brain tumors: report from the European C4CMMRD consortium.
Neuro-oncology advances, 2019
|
Main article | |
| MSH6 |
NM_000179.3:c.3517G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.3811_3824del14; p.Val1271*
context: Compound heterozygous candidate
|
30680046
Diagnostic yield and clinical utility of a comprehensive gene panel for hereditary tumor syndromes.
Hereditary cancer in clinical practice, 2019
|
Supplementary material | |
| MSH6 |
NM_000179.3:c.467C>T
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with 1316A>G; Asp439Gly
context: Compound heterozygous candidate
|
30013564
No Overt Clinical Immunodeficiency Despite Immune Biological Abnormalities in Patients With Constitutional Mismatch Repair Deficiency.
Frontiers in immunology, 2018
|
Main article | |
| MSH6 |
NM_000179.3:c.2008G>A
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with second, known pathogenic mutation in one of the DNA MMR genes
context: Compound heterozygous candidate
|
28531214
Suspected Lynch syndrome associated MSH6 variants: A functional assay to determine their pathogenicity.
PLoS genetics, 2017
|
Main article | |
| MSH6 |
NM_000179.3:c.2008G>T
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with deletion exon 1+2
context: Compound heterozygous candidate
|
28531214
Suspected Lynch syndrome associated MSH6 variants: A functional assay to determine their pathogenicity.
PLoS genetics, 2017
|
Supplementary material | |
| MSH6 |
NM_000179.3:c.2117T>G
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with deletion exon 1+2
context: Compound heterozygous candidate
|
28531214
Suspected Lynch syndrome associated MSH6 variants: A functional assay to determine their pathogenicity.
PLoS genetics, 2017
|
Supplementary material | |
| MSH6 |
NM_000179.3:c.1522G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.C2354T; c.C2870T; c.C3260T; +3 more
context: Compound heterozygous candidate
|
28002797
Targeted exome sequencing reveals distinct pathogenic variants in Iranians with colorectal cancer.
Oncotarget, 2017
|
Supplementary material | |
| MSH6 |
NM_000179.3:c.2013G>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.C1451A; c.C1457A; c.C2101A; +5 more
context: Compound heterozygous candidate
|
28002797
Targeted exome sequencing reveals distinct pathogenic variants in Iranians with colorectal cancer.
Oncotarget, 2017
|
Supplementary material | |
| MSH6 |
NM_000179.3:c.2532G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.G1849T; c.G2365T; c.G2755T; +4 more
context: Compound heterozygous candidate
|
28002797
Targeted exome sequencing reveals distinct pathogenic variants in Iranians with colorectal cancer.
Oncotarget, 2017
|
Supplementary material | |