MSH6 (DNA mismatch repair protein Msh6) variants and mutations
MSH6 (also known as DNA mismatch repair protein Msh6) is a human protein-coding gene encoding a DNA mismatch repair protein. Together with MSH2, it recognizes single-base mismatches and small insertion-deletion loops during DNA replication and initiates mismatch repair. Germline loss-of-function variants cause Lynch syndrome, while biallelic variants can cause constitutional mismatch-repair deficiency. This analysis covers 7,388 MSH6 variants and mutations. Of these, 56% have computational variant effect predictions. Disease context includes Lynch syndrome, endometrial cancer, and Constitutional mismatch repair deficiency syndrome. Example MSH6 variants include M1I, M1T, and M1V.
Variant analysis overview
- Gene: MSH6
- Protein: DNA mismatch repair protein Msh6
- UniProt accession: P52701
- Organism: Homo sapiens
- Variants analyzed: 7388
- Variant scope: all variants
- Completed: 2026-08-10
Variant and mutation evidence
- Variant composition: 7,245 unspecified-consequence records; 98 synonymous variants; 28 missense variants; 6 in-frame deletions; 6 frameshift variants; 2 splice-region variants; 3 substitution
- Prediction scores: 4,166 variants have prediction scores (56% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: Lynch syndrome, endometrial cancer, Constitutional mismatch repair deficiency syndrome, colorectal cancer, mismatch repair cancer syndrome 1, endometrial carcinoma, colon carcinoma, uterine corpus cancer, hereditary nonpolyposis colon cancer, ovarian cancer, colonic neoplasm, neoplasm.
Protein structure and variant hotspots
- Protein features: 1 domains; 1 binding sites; 25 post-translational modification sites.
- Structural context: 348 variants have structural context.
- PTM context: 136 variants overlap post-translational modification sites.
Data sources
Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, 3D Hotspot Analysis, Interaction Network Analysis, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, ClinGen, MaveDB, LitVar.
Notable MSH6 variants
Examples include M1I, M1T, M1V, S2*, S2A, S2L, S2T, S2W. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- M1I (p.Met1Ile), rs876660095, ClinGen CA10578019, ClinVar RCV000219646, ClinVar RCV000485238, Uncertain significance, Hereditary cancer-predisposing syndrome
- M1T (p.Met1Thr), rs2530313399, ClinGen CA346734460, ClinVar RCV003017388, Uncertain significance, Hereditary nonpolyposis colorectal neoplasms
- M1V (p.Met1Val), rs2103930478, ClinGen CA346734457, ClinVar RCV002041099, ClinVar RCV002423274, Uncertain significance, Hereditary cancer-predisposing syndrome; Hereditary nonpolyposis colorectal neop
- S2* (p.Ser2Ter), ExAC rs752887988, gnomAD rs752887988, Benign
- S2A (p.Ser2Ala), Ensembl rs2103930659
- S2L (p.Ser2Leu), rs752887988, ClinGen CA073146, ClinVar RCV001039473, ClinVar RCV002354992, REVEL 0.54, MetaLR 0.68, Benign
- S2T (p.Ser2Thr), Ensembl rs2103930659
- S2W (p.Ser2Trp), ExAC rs752887988, gnomAD rs752887988, Benign
- R3* (p.Arg3Ter), rs1558644683, ClinGen CA891843157, ClinVar RCV000694103, ClinVar RCV003453456, Pathogenic
- R3G (p.Arg3Gly), rs1553408074, ClinGen CA346734469, ClinVar RCV000629922, ClinVar RCV006552539, Uncertain significance, not provided; Hereditary nonpolyposis colorectal neoplasms
- R3L (p.Arg3Leu), rs1553408078, ClinGen CA346734473, ClinVar RCV001347051, Ensembl rs1553408078, REVEL 0.55, MetaLR 0.45, Uncertain significance, Hereditary cancer-predisposing syndrome
- R3P (p.Arg3Pro), rs1553408078, ClinGen CA346734472, ClinVar RCV000566583, ClinVar RCV003593993, Uncertain significance
- R3Q (p.Arg3Gln), rs1553408078, ClinGen CA346734471, ClinVar RCV001069282, ClinVar RCV001178616, Uncertain significance
- R3R (p.Arg3Arg), rs1553408080, gnomAD 2-47783242-A-G, CADD 14.60
- Q4* (p.Gln4Ter), rs786201042, ClinGen CA008028, cosmic curated COSV52282, ClinVar RCV000162425, CADD 40.00, Pathogenic
- Q4E (p.Gln4Glu), rs786201042, ClinGen CA346734475, ClinVar RCV003760054, TOPMed rs786201042, REVEL 0.48, MetaLR 0.62, Uncertain significance, Hereditary nonpolyposis colorectal neoplasms
- Q4H (p.Gln4His), rs1558644700, ClinGen CA346734479, ClinVar RCV002380812, ClinVar RCV003465713, REVEL 0.50, MetaLR 0.67, Uncertain significance, Hereditary cancer-predisposing syndrome
- Q4L (p.Gln4Leu), rs1572697725, ClinGen CA346734478, ClinVar RCV004007968, Uncertain significance, Lynch syndrome
- Q4R (p.Gln4Arg), rs1572697725, ClinGen CA346734477, ClinVar RCV000822335, ClinVar RCV005367593, REVEL 0.38, MetaLR 0.54, Uncertain significance
- S5G (p.Ser5Gly), rs2530313810, ClinGen CA346734481, ClinVar RCV003760115, Uncertain significance, Hereditary nonpolyposis colorectal neoplasms
- S5I (p.Ser5Ile), rs532585602, ClinGen CA346734485, ClinVar RCV002389903, REVEL 0.56, MetaLR 0.60, Uncertain significance, Hereditary cancer-predisposing syndrome
- S5N (p.Ser5Asn), rs532585602, ClinGen CA346734484, ClinVar RCV000562870, ClinVar RCV000821829, REVEL 0.31, MetaLR 0.49, Benign
- S5R (p.Ser5Arg), ExAC rs778036049, gnomAD rs778036049, Uncertain significance, Hereditary cancer-predisposing syndrome
- S5T (p.Ser5Thr), rs532585602, ClinGen CA067765, ClinVar RCV003593807, ClinVar RCV005392646, REVEL 0.37, MetaLR 0.41, Conflicting interpretations, Mismatch repair cancer syndrome 3; Endometrial carcinoma; Lynch syndrome 5
- S5C (p.Ser5Cys), gnomAD 2-47783246-A-T, REVEL 0.54, CADD 26.40
- S5S (p.Ser5Ser), rs778036049, gnomAD 2-47783248-C-T, CADD 13.90
- T6I (p.Thr6Ile), rs1572697743, ClinGen CA346734492, ClinVar RCV002018511, Ensembl rs1572697743, Uncertain significance, Hereditary nonpolyposis colorectal neoplasms
- T6P (p.Thr6Pro), rs200944853, ClinGen CA068021, ClinVar RCV000490967, ClinVar RCV000549468, REVEL 0.56, MetaLR 0.69, Benign
- T6S (p.Thr6Ser), Ensembl rs1572697743, Uncertain significance
- T6T (p.Thr6Thr), rs909257611, gnomAD 2-47783251-C-T, CADD 12.60
- L7M (p.Leu7Met), rs1064795094, ClinGen CA16617615, cosmic curated COSV99315, ClinVar RCV000539596, REVEL 0.42, MetaLR 0.54, Uncertain significance
- L7P (p.Leu7Pro), rs2103931561, ClinGen CA346734496, ClinVar RCV002023547, Ensembl rs2103931561, Uncertain significance, Hereditary cancer-predisposing syndrome; Hereditary nonpolyposis colorectal neop
- L7V (p.Leu7Val), rs1064795094, ClinGen CA346734493, NCI-TCGA Cosmic COSV9931, ClinVar RCV000547511, REVEL 0.39, MetaLR 0.45, Uncertain significance
- L7L (p.Leu7Leu), rs757815307, gnomAD 2-47783254-G-C, CADD 11.60
- Y8* (p.Tyr8Ter), rs746306598, ClinGen CA346734503, ClinVar RCV000825599, ClinVar RCV002427080, Pathogenic
- Y8C (p.Tyr8Cys), rs1572697757, ClinGen CA346734500, ClinVar RCV000811278, ClinVar RCV001015409, Uncertain significance
- Y8F (p.Tyr8Phe), rs1572697757, ClinGen CA346734501, ClinVar RCV001051650, TOPMed rs1572697757, REVEL 0.20, MetaLR 0.23, Uncertain significance
- Y8H (p.Tyr8His), rs781670952, ClinGen CA068788, ClinVar RCV003035613, ExAC rs781670952, REVEL 0.32, MetaLR 0.45, Likely benign, Hereditary nonpolyposis colorectal neoplasms
- Y8N (p.Tyr8Asn), rs781670952, ClinGen CA346734497, ClinVar RCV000584405, ExAC rs781670952, Likely benign
- Y8S (p.Tyr8Ser), TOPMed rs1572697757, Uncertain significance
- Y8Y (p.Tyr8Tyr), rs746306598, gnomAD 2-47783257-C-T, CADD 8.49
- S9G (p.Ser9Gly), rs41294986, ClinGen CA010478, cosmic curated COSV99316, ClinVar RCV000130571, REVEL 0.29, MetaLR 0.41, Likely benign
- S9I (p.Ser9Ile), rs1572697767, ClinGen CA346734508, ClinVar RCV002428995, Ensembl rs1572697767, REVEL 0.46, MetaLR 0.44, Uncertain significance, Hereditary cancer-predisposing syndrome
- S9N (p.Ser9Asn), rs1572697767, ClinGen CA346734506, ClinVar RCV001048576, ClinVar RCV002436591, REVEL 0.27, MetaLR 0.41, Uncertain significance
- S9R (p.Ser9Arg), rs1572697773, ClinGen CA346734509, cosmic curated COSV52284, ClinVar RCV001016638, REVEL 0.32, MetaLR 0.48, Uncertain significance, not provided; Hereditary cancer-predisposing syndrome; Hereditary nonpolyposis c
- S9T (p.Ser9Thr), rs1572697767, ClinGen CA346734507, ClinVar RCV001016350, Ensembl rs1572697767, Uncertain significance
- S9S (p.Ser9Ser), rs1572697773, gnomAD 2-47783260-C-T, CADD 15.30
- F10C (p.Phe10Cys), rs1668110702, ClinGen CA346734515, ClinVar RCV001222244, ClinVar RCV003163717, REVEL 0.68, MetaLR 0.69, Uncertain significance, Hereditary cancer-predisposing syndrome; Hereditary nonpolyposis colorectal neop
- F10I (p.Phe10Ile), rs773861137, ClinGen CA346734512, ClinVar RCV003278515, ClinVar RCV006613007, Uncertain significance, Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer-predisposing syn
- F10L (p.Phe10Leu), rs773861137, ClinGen CA069791, ClinVar RCV002438061, ClinVar RCV003594302, REVEL 0.58, MetaLR 0.47, Conflicting interpretations, Hereditary cancer-predisposing syndrome; Hereditary nonpolyposis colorectal neop
- F10V (p.Phe10Val), rs773861137, ClinGen CA346734511, ClinVar RCV002438064, Uncertain significance, Hereditary cancer-predisposing syndrome
- F10F (p.Phe10Phe), rs786201869, gnomAD 2-47783263-C-T, CADD 15.60
- F11I (p.Phe11Ile), cosmic curated COSV10605, Ensembl rs2103932161
- F11L (p.Phe11Leu), rs747802641, ClinGen CA012766, ClinVar RCV000166008, ClinVar RCV000679237, REVEL 0.58, MetaLR 0.57, Likely benign
- F11S (p.Phe11Ser), rs2103932194, ClinGen CA346734521, ClinVar RCV002454690, Ensembl rs2103932194, Uncertain significance, Hereditary cancer-predisposing syndrome
- F11V (p.Phe11Val), rs2103932161, ClinGen CA346734519, ClinVar RCV002322971, Uncertain significance, Hereditary cancer-predisposing syndrome
- F11Y (p.Phe11Tyr), Ensembl rs2103932194, Uncertain significance
- P12L (p.Pro12Leu), rs760603184, ClinGen CA46687631, ClinVar RCV000780472, ClinVar RCV001856186, REVEL 0.46, MetaLR 0.42, Likely benign
- P12R (p.Pro12Arg), rs760603184, ClinGen CA346734526, ClinVar RCV001177000, ClinVar RCV002295330, Likely benign
- P12S (p.Pro12Ser), rs587782084, ClinGen CA071083, ClinVar RCV001020461, ClinVar RCV001316018, REVEL 0.35, MetaLR 0.40, Likely benign
- P12T (p.Pro12Thr), rs587782084, ClinGen CA013137, ClinVar RCV000130582, ClinVar RCV000484580, REVEL 0.39, MetaLR 0.43, Likely benign
- P12P (p.Pro12Pro), rs760533525, gnomAD 2-47783269-C-G, CADD 13.80
- K13* (p.Lys13Ter), rs942019524, ClinGen CA346734527, ClinVar RCV002002526, ClinVar RCV003453856, Pathogenic
- K13E (p.Lys13Glu), rs942019524, ClinGen CA16610862, ClinVar RCV000458039, ClinVar RCV000479706, REVEL 0.53, MetaLR 0.57, Pathogenic
- K13M (p.Lys13Met), rs41294988, ClinGen CA346734528, ClinVar RCV000525094, ClinVar RCV000567533, Likely benign
- K13N (p.Lys13Asn), rs1668112040, ClinGen CA346734530, ClinVar RCV002357802, gnomAD rs1668112040, REVEL 0.49, MetaLR 0.67, Uncertain significance, Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer-predisposing syn
- K13Q (p.Lys13Gln), rs942019524, ClinGen CA46687657, ClinVar RCV001179054, ClinVar RCV001192424, Pathogenic
- K13R (p.Lys13Arg), rs41294988, ClinGen CA072266, ClinVar RCV000458284, ClinVar RCV000679240, REVEL 0.46, MetaLR 0.59, Likely benign
- K13T (p.Lys13Thr), rs41294988, ClinGen CA014649, cosmic curated COSV99314, ClinVar RCV000030274, REVEL 0.53, MetaLR 0.64, Likely benign
- S14A (p.Ser14Ala), rs876660417, ClinGen CA10578020, ClinVar RCV000214023, ClinVar RCV001058725, REVEL 0.20, MetaLR 0.38, Uncertain significance
- S14C (p.Ser14Cys), rs863224628, ClinGen CA346734534, ClinVar RCV002327852, ClinVar RCV005239368, REVEL 0.39, MetaLR 0.52, Uncertain significance, Hereditary cancer-predisposing syndrome; not specified
- S14F (p.Ser14Phe), rs863224628, ClinGen CA336718, ClinVar RCV000196789, ClinVar RCV000575547, REVEL 0.47, MetaLR 0.53, Likely benign
- S14P (p.Ser14Pro), TOPMed rs876660417, gnomAD rs876660417, Uncertain significance
- S14T (p.Ser14Thr), rs876660417, ClinGen CA346734532, ClinVar RCV002323336, ClinVar RCV003126243, Uncertain significance, Hereditary cancer-predisposing syndrome; not provided
- S14Y (p.Ser14Tyr), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- S14S (p.Ser14Ser), rs1668112357, gnomAD 2-47783275-T-G, CADD 12.50
- P15A (p.Pro15Ala), rs776745497, ClinGen CA346734536, ClinVar RCV000575336, ClinVar RCV000824221, REVEL 0.35, MetaLR 0.40, Benign
- P15L (p.Pro15Leu), rs869312800, ClinGen CA357811, ClinVar RCV000210179, ClinVar RCV000791386, REVEL 0.38, MetaLR 0.39, Uncertain significance, Hereditary cancer-predisposing syndrome
- P15Q (p.Pro15Gln), TOPMed rs869312800, gnomAD rs869312800, Uncertain significance
- P15R (p.Pro15Arg), TOPMed rs869312800, gnomAD rs869312800, Uncertain significance
- P15S (p.Pro15Ser), rs776745497, ClinGen CA015522, ClinVar RCV000164343, ClinVar RCV000793874, REVEL 0.38, MetaLR 0.51, Uncertain significance, Hereditary cancer-predisposing syndrome
- P15T (p.Pro15Thr), rs1668112441, ClinGen CA1139655573, ClinVar RCV001210838, Ensembl rs1668112441, Uncertain significance, Hereditary nonpolyposis colorectal neoplasms
- A16E (p.Ala16Glu), rs759501511, ClinGen CA346734543, ClinVar RCV001214582, ClinVar RCV002339560, Uncertain significance, Hereditary nonpolyposis colorectal neoplasms; not provided; Hereditary cancer-pr
- A16G (p.Ala16Gly), ExAC rs759501511, TOPMed rs759501511, gnomAD rs759501511, Likely benign
- A16P (p.Ala16Pro), Ensembl rs2103933032, Uncertain significance
- A16T (p.Ala16Thr), rs2103933032, ClinGen CA346734539, ClinVar RCV002335306, ClinVar RCV003102620, Uncertain significance, Hereditary cancer-predisposing syndrome; Hereditary nonpolyposis colorectal neop
- A16V (p.Ala16Val), rs759501511, ClinGen CA073037, ClinVar RCV000563575, ClinVar RCV001218497, REVEL 0.09, MetaLR 0.41, Likely benign
- A16A (p.Ala16Ala), rs1250671114, gnomAD 2-47783281-G-A, CADD 12.20
- L17P (p.Leu17Pro), rs1553408119, ClinGen CA346734547, ClinVar RCV000546866, ClinVar RCV004696930, Uncertain significance
- L17Q (p.Leu17Gln), Ensembl rs1553408119, Uncertain significance
- L17V (p.Leu17Val), rs2103933185, ClinGen CA346734545, ClinVar RCV003863385, Ensembl rs2103933185, REVEL 0.13, MetaLR 0.32, Uncertain significance, Hereditary nonpolyposis colorectal neoplasms
- S18N (p.Ser18Asn), rs765459817, ClinGen CA346734552, ClinVar RCV003595100, Uncertain significance, Hereditary nonpolyposis colorectal neoplasms
- S18R (p.Ser18Arg), rs1553408122, ClinGen CA346734549, ClinVar RCV000580185, ClinVar RCV000629974, REVEL 0.14, MetaLR 0.29, Uncertain significance
- S18T (p.Ser18Thr), rs765459817, ClinGen CA073114, ClinVar RCV002712107, ExAC rs765459817, REVEL 0.12, MetaLR 0.29, Conflicting interpretations, Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer-predisposing syn
- S18I (p.Ser18Ile), gnomAD 2-47783286-G-T, REVEL 0.08, CADD 5.32
- D19E (p.Asp19Glu), rs752794296, ClinGen CA346734562, ClinVar RCV001024550, ClinVar RCV001862292, Likely benign
- D19F (p.Asp19Phe), rs1572697844, ClinGen CA915943787, ClinVar RCV001024194, ClinVar RCV001349942, Uncertain significance
- D19G (p.Asp19Gly), rs1553408133, ClinGen CA346734560, ClinVar RCV000528902, TOPMed rs1553408133, Uncertain significance
- D19N (p.Asp19Asn), TOPMed rs1668113424, Uncertain significance
- D19V (p.Asp19Val), TOPMed rs1553408133, Uncertain significance
- D19Y (p.Asp19Tyr), rs1668113424, ClinGen CA346734556, ClinVar RCV002344897, TOPMed rs1668113424, REVEL 0.19, MetaLR 0.37, Uncertain significance, Hereditary cancer-predisposing syndrome
- D19D (p.Asp19Asp), rs752794296, gnomAD 2-47783290-T-C, CADD 6.52
- A20D (p.Ala20Asp), rs63750664, ClinGen CA073139, ClinVar RCV002357942, 1000Genomes rs63750664, REVEL 0.19, MetaLR 0.33, Uncertain significance, Hereditary cancer-predisposing syndrome
- A20G (p.Ala20Gly), 1000Genomes rs63750664, ESP rs63750664, ExAC rs63750664, TOPMed rs63750664, Benign, in LYNCH5, CRC and ENDMC
- A20P (p.Ala20Pro), rs1439274983, ClinGen CA346734565, ClinVar RCV003040928, gnomAD rs1439274983, REVEL 0.17, MetaLR 0.32, Likely benign, Hereditary nonpolyposis colorectal neoplasms
- A20T (p.Ala20Thr), rs1439274983, ClinGen CA346734564, ClinVar RCV004520735, gnomAD rs1439274983, REVEL 0.09, MetaLR 0.28, Uncertain significance, Hereditary cancer-predisposing syndrome
- A20V (p.Ala20Val), rs63750664, ClinGen CA015946, cosmic curated COSV10586, ClinVar RCV000075009, REVEL 0.49, MetaLR 0.35, Benign, in LYNCH5, CRC and ENDMC
- A20S (p.Ala20Ser), gnomAD 2-47783291-G-T, REVEL 0.14, CADD 2.15
- N21D (p.Asn21Asp), rs1223476490, ClinGen CA346734569, ClinVar RCV000575294, ClinVar RCV000689038, REVEL 0.12, MetaLR 0.35, Likely benign
- N21K (p.Asn21Lys), rs876660097, Ensembl rs876660097, ClinGen CA10578021, ClinVar RCV000216301, REVEL 0.10, MetaLR 0.30, Likely benign
- N21S (p.Asn21Ser), rs267608025, ClinGen CA016053, ClinVar RCV000223132, ClinVar RCV000586767, REVEL 0.17, MetaLR 0.32, Likely benign
- N21T (p.Asn21Thr), TOPMed rs267608025, Likely benign
- N21N (p.Asn21Asn), rs876660097, gnomAD 2-47783296-C-T, CADD 9.34
- K22E (p.Lys22Glu), rs1060502897, ClinGen CA16610863, ClinVar RCV000473092, ClinVar RCV000582480, REVEL 0.10, MetaLR 0.35, Uncertain significance, Hereditary cancer-predisposing syndrome; Hereditary nonpolyposis colorectal neop
- K22Q (p.Lys22Gln), rs1060502897, ClinGen CA346734574, ClinVar RCV002008711, ClinVar RCV005674906, Uncertain significance, Hereditary cancer-predisposing syndrome; Hereditary nonpolyposis colorectal neop
- K22T (p.Lys22Thr), rs1668115116, ClinGen CA346734576, ClinVar RCV001049583, ClinVar RCV003160386, REVEL 0.13, MetaLR 0.40, Uncertain significance
- K22R (p.Lys22Arg), gnomAD 2-47783298-A-G, REVEL 0.11, CADD 22.60
- K22K (p.Lys22Lys), rs1305111983, gnomAD 2-47783299-G-A, CADD 11.40
- A23D (p.Ala23Asp), rs1060502912, ClinGen CA346734780, ClinVar RCV002257129, ClinVar RCV003759087, Uncertain significance, Hereditary cancer-predisposing syndrome; Hereditary nonpolyposis colorectal neop
- A23G (p.Ala23Gly), rs1060502912, ClinGen CA16610864, ClinVar RCV002230412, ClinVar RCV002374796, Uncertain significance
- A23P (p.Ala23Pro), rs730881810, ClinGen CA16617616, cosmic curated COSV10509, ClinVar RCV000482378, REVEL 0.04, MetaLR 0.36, Likely benign
- A23S (p.Ala23Ser), rs730881810, ClinGen CA346734779, ClinVar RCV001323413, ClinVar RCV002366192, REVEL 0.07, MetaLR 0.31, Conflicting interpretations, Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer-predisposing syn
- A23T (p.Ala23Thr), rs730881810, ClinGen CA016226, cosmic curated COSV52279, ClinVar RCV000160706, REVEL 0.04, MetaLR 0.36, Benign
- A23V (p.Ala23Val), rs1060502912, ClinGen CA346734781, ClinVar RCV000694670, ClinVar RCV000774887, REVEL 0.05, MetaLR 0.42, Uncertain significance
- A23A (p.Ala23Ala), rs1057522077, gnomAD 2-47783302-C-G, CADD 7.82
- S24* (p.Ser24Ter), gnomAD rs786201684, Uncertain significance
- S24L (p.Ser24Leu), rs786201684, ClinGen CA016332, cosmic curated COSV52285, ClinVar RCV000164092, REVEL 0.13, MetaLR 0.36, Uncertain significance
- S24P (p.Ser24Pro), Ensembl rs2103934363, Likely benign, Hereditary cancer-predisposing syndrome
- S24T (p.Ser24Thr), Ensembl rs2103934363, Likely benign
- S24W (p.Ser24Trp), rs786201684, ClinGen CA346734786, ClinVar RCV003819525, gnomAD rs786201684, REVEL 0.23, MetaLR 0.41, Uncertain significance, Hereditary nonpolyposis colorectal neoplasms
- A25D (p.Ala25Asp), rs35462442, ClinGen CA346734789, ClinVar RCV003031206, Uncertain significance, Hereditary nonpolyposis colorectal neoplasms
- A25G (p.Ala25Gly), rs35462442, ClinGen CA346734790, ClinVar RCV001187885, ClinVar RCV002559997, Conflicting interpretations, Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer-predisposing syn
- A25P (p.Ala25Pro), rs267608026, ClinGen CA346734788, cosmic curated COSV52278, ClinVar RCV001327687, Uncertain significance, Hereditary cancer-predisposing syndrome; Hereditary nonpolyposis colorectal neop
- A25S (p.Ala25Ser), rs267608026, ClinGen CA016371, ClinVar RCV000075031, ClinVar RCV000115442, REVEL 0.08, MetaLR 0.34, Likely benign, in LYNCH5
- A25V (p.Ala25Val), rs35462442, ClinGen CA016416, ClinVar RCV000160737, ClinVar RCV001187162, REVEL 0.09, MetaLR 0.33, Uncertain significance
- A25A (p.Ala25Ala), rs1045981031, gnomAD 2-47783308-C-T, CADD 8.67
- R26G (p.Arg26Gly), rs757622849, ClinGen CA16611071, ClinVar RCV000468207, ClinVar RCV000564743, REVEL 0.14, MetaLR 0.33, Benign
- R26K (p.Arg26Lys), TOPMed rs1472227590, gnomAD rs1472227590, Uncertain significance, Hereditary cancer-predisposing syndrome
- R26S (p.Arg26Ser), rs1395190094, ClinGen CA346734795, cosmic curated COSV99315, ClinVar RCV001178974, Likely benign
- R26T (p.Arg26Thr), rs1472227590, ClinGen CA346734792, ClinVar RCV001052925, ClinVar RCV004000056, REVEL 0.18, MetaLR 0.27, Likely benign
- R26W (p.Arg26Trp), ExAC rs757622849, gnomAD rs757622849, REVEL 0.34, MetaLR 0.48, Likely benign
- R26R (p.Arg26Arg), rs1395190094, gnomAD 2-47783311-G-A, CADD 9.75
- A27D (p.Ala27Asp), rs1668116728, ClinGen CA346734799, ClinVar RCV001294367, Ensembl rs1668116728, REVEL 0.27, MetaLR 0.55, Uncertain significance, Hereditary nonpolyposis colorectal neoplasms
- A27G (p.Ala27Gly), Ensembl rs1668116728, Uncertain significance
- A27V (p.Ala27Val), rs1668116728, ClinGen CA346734801, ClinVar RCV001339397, ClinVar RCV004945028, REVEL 0.22, MetaLR 0.49, Uncertain significance, Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer-predisposing syn
- A27S (p.Ala27Ser), gnomAD 2-47783312-G-T, REVEL 0.12, CADD 8.37
- A27A (p.Ala27Ala), rs781496151, gnomAD 2-47783314-C-G, CADD 12.20
- S28A (p.Ser28Ala), rs1223620783, ClinGen CA346734802, ClinVar RCV001939118, ClinVar RCV002425270, Uncertain significance, Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer-predisposing syn
- S28L (p.Ser28Leu), rs750949635, ClinGen CA073484, ClinVar RCV000542898, ClinVar RCV000567017, REVEL 0.37, MetaLR 0.47, Likely benign
- S28P (p.Ser28Pro), rs1223620783, ClinGen CA346734803, ClinVar RCV000811986, ClinVar RCV002424909, REVEL 0.30, MetaLR 0.36, Likely benign
- S28T (p.Ser28Thr), gnomAD rs1223620783, Uncertain significance
- S28S (p.Ser28Ser), rs1060504748, gnomAD 2-47783317-A-T, CADD 10.60
- R29C (p.Arg29Cys), rs756589186, ClinGen CA346734808, ClinVar RCV000568043, ClinVar RCV000796511, Uncertain significance
- R29G (p.Arg29Gly), rs756589186, ClinGen CA346734807, ClinVar RCV000629908, ClinVar RCV001181391, REVEL 0.15, MetaLR 0.26, Uncertain significance
- R29H (p.Arg29His), rs1469162224, ClinGen CA346734809, ClinVar RCV003760838, ClinVar RCV005363182, REVEL 0.18, MetaLR 0.32, Conflicting interpretations, Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer-predisposing syn
- R29P (p.Arg29Pro), TOPMed rs1469162224, gnomAD rs1469162224, Uncertain significance, Hereditary nonpolyposis colorectal neoplasms
- R29S (p.Arg29Ser), ExAC rs756589186, gnomAD rs756589186, Uncertain significance, Hereditary nonpolyposis colorectal neoplasms
- R29L (p.Arg29Leu), gnomAD 2-47783319-G-T, REVEL 0.14, CADD 17.60
- R29R (p.Arg29Arg), rs778354962, gnomAD 2-47783320-C-G, CADD 10.70
- E30C (p.Glu30Cys), rs2530316357, ClinGen CA2580066974, ClinVar RCV002373717, Pathogenic
- E30D (p.Glu30Asp), rs1060504760, ClinGen CA346734817, ClinVar RCV003215392, Ensembl rs1060504760, Uncertain significance, Hereditary cancer-predisposing syndrome
- E30G (p.Glu30Gly), TOPMed rs963847218, gnomAD rs963847218
- E30K (p.Glu30Lys), rs1445690889, ClinGen CA346734812, ClinVar RCV000539227, ClinVar RCV000775003, Uncertain significance, Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer-predisposing syn
- E30P (p.Glu30Pro), rs2530316392, ClinGen CA2580066975, ClinVar RCV002449792, Pathogenic
- E30Q (p.Glu30Gln), rs1445690889, ClinGen CA346734813, ClinVar RCV000573405, ClinVar RCV000703961, REVEL 0.22, MetaLR 0.32, Benign
- E30V (p.Glu30Val), TOPMed rs963847218, gnomAD rs963847218, REVEL 0.29, MetaLR 0.35
- E30E (p.Glu30Glu), rs1060504760, gnomAD 2-47783323-A-G, CADD 9.32
- G31A (p.Gly31Ala), rs2530316591, ClinGen CA346734823, ClinVar RCV003461935, Uncertain significance, Endometrial carcinoma
- G31C (p.Gly31Cys), rs1553408183, ClinGen CA346734821, ClinVar RCV000561350, ClinVar RCV004740339, Uncertain significance
- G31D (p.Gly31Asp), rs2530316591, ClinGen CA346734822, ClinVar RCV002371536, Uncertain significance, Hereditary cancer-predisposing syndrome
- G31L (p.Gly31Leu), rs2530316491, ClinGen CA2580066978, ClinVar RCV002376354, Pathogenic
- G31S (p.Gly31Ser), rs2530316571, ClinGen CA2580066983, ClinVar RCV002378652, REVEL 0.08, MetaLR 0.37, Uncertain significance, Hereditary cancer-predisposing syndrome
- G31T (p.Gly31Thr), rs2530316549, ClinGen CA2580066984, ClinVar RCV002378651, Pathogenic
- G31G (p.Gly31Gly), rs370817805, gnomAD 2-47783326-C-T, CADD 10.60
- G32A (p.Gly32Ala), ExAC rs771426932, gnomAD rs771426932, Likely benign
- G32C (p.Gly32Cys), rs776859837, ClinGen CA073625, ClinVar RCV000198127, ClinVar RCV000480324, REVEL 0.23, MetaLR 0.41, Likely benign
- G32D (p.Gly32Asp), rs771426932, ClinGen CA073654, cosmic curated COSV10940, ClinVar RCV000479170, REVEL 0.09, MetaLR 0.33, Likely benign
- G32S (p.Gly32Ser), rs776859837, ClinGen CA346734825, ClinVar RCV002015237, ClinVar RCV002269387, Uncertain significance, not provided; Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer-pr
- G32V (p.Gly32Val), rs771426932, ClinGen CA16617617, ClinVar RCV000487312, ClinVar RCV000566154, Likely benign
- G32R (p.Gly32Arg), gnomAD 2-47783327-G-C, REVEL 0.11, CADD 14.20
Public MSH6 analysis runs
- MSH6 analysis run — MSH6 (7,388 variants) — completed 2026-08-10