MSH3 (mutS homolog 3) - Rat Genome Database
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Gene: MSH3 (mutS homolog 3) Homo sapiens
Analyze
Symbol: MSH3
Name: mutS homolog 3
RGD ID: 1353031
Description: Exhibits enzyme binding activity. Contributes to dinucleotide repeat insertion binding activity; single guanine insertion binding activity; and single-stranded DNA binding activity. Involved in DNA metabolic process; negative regulation of DNA recombination; and positive regulation of helicase activity. Localizes to MutSbeta complex. Implicated in colorectal carcinoma; endometrial cancer; endometrial carcinoma; and familial adenomatous polyposis 4.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: divergent upstream protein; DNA mismatch repair protein Msh3; DUP; FAP4; hMSH3; MGC163306; MGC163308; mismatch repair protein 1; MRP1
Orthologs:
Mus musculus (house mouse) : Msh3 (mutS homolog 3)  MGI  Alliance
Rattus norvegicus (Norway rat) : Msh3 (mutS homolog 3)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Msh3 (mutS homolog 3)
Pan paniscus (bonobo/pygmy chimpanzee) : MSH3 (mutS homolog 3)
Canis lupus familiaris (dog) : MSH3 (mutS homolog 3)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Msh3 (mutS homolog 3)
Sus scrofa (pig) : MSH3 (mutS homolog 3)
Chlorocebus sabaeus (African green monkey) : MSH3 (mutS homolog 3)
Heterocephalus glaber (naked mole-rat) : Msh3 (mutS homolog 3)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl580,654,652 - 80,876,815 (+)EnsemblGRCh38hg38GRCh38
GRCh38580,654,652 - 80,876,815 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37579,950,467 - 80,172,634 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36579,986,050 - 80,208,390 (+)NCBINCBI36hg18NCBI36
Build 34579,986,294 - 80,208,389NCBI
Celera575,854,379 - 76,076,910 (+)NCBI
Cytogenetic Map5q14.1NCBI
HuRef575,159,370 - 75,381,401 (+)NCBIHuRef
CHM1_1579,383,713 - 79,605,325 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Molecular Pathway Annotations     Click to see Annotation Detail View
References

Additional References at PubMed
PMID:2722860   PMID:6323448   PMID:8029024   PMID:8805365   PMID:8838312   PMID:8851770   PMID:8942985   PMID:9774676   PMID:10029069   PMID:10871409   PMID:10944853   PMID:11005803  
PMID:11274057   PMID:11427529   PMID:11498787   PMID:11756455   PMID:11809883   PMID:11895912   PMID:11920679   PMID:12014680   PMID:12171929   PMID:12477932   PMID:14510941   PMID:14578343  
PMID:14625810   PMID:14657349   PMID:14871813   PMID:15489334   PMID:15541380   PMID:16025128   PMID:16388310   PMID:16552576   PMID:16774946   PMID:17148452   PMID:17205513   PMID:17314511  
PMID:17456004   PMID:17494052   PMID:17676485   PMID:17715146   PMID:17950544   PMID:18029348   PMID:18355840   PMID:18364438   PMID:18676680   PMID:18683134   PMID:18701435   PMID:18723338  
PMID:18922920   PMID:19064572   PMID:19115210   PMID:19170196   PMID:19237606   PMID:19377479   PMID:19468048   PMID:19525234   PMID:19536092   PMID:19596235   PMID:19625176   PMID:19692168  
PMID:19730683   PMID:19894224   PMID:19913121   PMID:19946888   PMID:19948975   PMID:20154325   PMID:20160730   PMID:20188637   PMID:20379614   PMID:20453000   PMID:20496165   PMID:20628086  
PMID:20632816   PMID:20708618   PMID:20845481   PMID:20869096   PMID:21128252   PMID:21285347   PMID:21344488   PMID:21549307   PMID:21873635   PMID:21960445   PMID:21974800   PMID:21988832  
PMID:22110587   PMID:22179786   PMID:22249440   PMID:22343000   PMID:22939629   PMID:22941650   PMID:23226332   PMID:23339595   PMID:23724141   PMID:24332808   PMID:24882211   PMID:24934723  
PMID:25416956   PMID:25461668   PMID:25598504   PMID:25609649   PMID:25921289   PMID:25966119   PMID:26095369   PMID:26212458   PMID:26300262   PMID:26344197   PMID:26496610   PMID:26617824  
PMID:26870752   PMID:26994442   PMID:27114453   PMID:27248496   PMID:27337956   PMID:27476653   PMID:27546332   PMID:28093084   PMID:28514442   PMID:28528517   PMID:28642124   PMID:28656302  
PMID:28973443   PMID:29395067   PMID:29467282   PMID:29507755   PMID:29568061   PMID:29892012   PMID:29955894   PMID:29987050   PMID:30021884   PMID:30154076   PMID:30258100   PMID:30277474  
PMID:30590005   PMID:30804502   PMID:30948266   PMID:31091453   PMID:31240132   PMID:31342644   PMID:31343991   PMID:31495888   PMID:31515488   PMID:31789935   PMID:32284349   PMID:32296183  


Genomics

Comparative Map Data
MSH3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl580,654,652 - 80,876,815 (+)EnsemblGRCh38hg38GRCh38
GRCh38580,654,652 - 80,876,815 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37579,950,467 - 80,172,634 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36579,986,050 - 80,208,390 (+)NCBINCBI36hg18NCBI36
Build 34579,986,294 - 80,208,389NCBI
Celera575,854,379 - 76,076,910 (+)NCBI
Cytogenetic Map5q14.1NCBI
HuRef575,159,370 - 75,381,401 (+)NCBIHuRef
CHM1_1579,383,713 - 79,605,325 (+)NCBICHM1_1
Msh3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391392,348,386 - 92,491,513 (-)NCBI
GRCm381392,211,878 - 92,355,004 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1392,211,872 - 92,355,003 (-)EnsemblGRCm38mm10GRCm38
MGSCv371392,981,836 - 93,124,958 (-)NCBIGRCm37mm9NCBIm37
MGSCv361393,312,634 - 93,455,756 (-)NCBImm8
Celera1395,828,509 - 95,961,232 (-)NCBICelera
Cytogenetic Map13C3NCBI
cM Map1347.63NCBI
Msh3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Rnor_6.0221,790,048 - 21,931,791 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl221,790,044 - 21,931,720 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0240,996,035 - 41,137,686 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4222,462,934 - 22,606,874 (-)NCBIRGSC3.4rn4RGSC3.4
Celera219,534,848 - 19,675,746 (-)NCBICelera
Cytogenetic Map2q12NCBI
Msh3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541829,150,085 - 29,274,437 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495541829,149,595 - 29,274,067 (-)NCBIChiLan1.0ChiLan1.0
MSH3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1534,719,261 - 34,938,521 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl534,719,322 - 34,938,469 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0534,408,469 - 34,663,483 (-)NCBIMhudiblu_PPA_v0panPan3
MSH3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 Ensembl326,336,403 - 26,518,521 (-)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.1326,335,788 - 26,520,633 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Msh3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_00493646982,967 - 275,772 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MSH3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl289,250,189 - 89,453,936 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1289,255,647 - 89,456,102 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2291,102,138 - 91,281,732 (+)NCBISscrofa10.2Sscrofa10.2susScr3
MSH3
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1 Ensembl474,811,198 - 75,032,005 (+)Ensembl
ChlSab1.1474,811,181 - 75,032,067 (+)NCBI
Msh3
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247431,461,952 - 1,581,524 (+)NCBI

Position Markers
SHGC-104881  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37579,961,260 - 79,961,544UniSTSGRCh37
Build 36579,997,016 - 79,997,300RGDNCBI36
Celera575,865,334 - 75,865,618RGD
Cytogenetic Map5q11-q12UniSTS
HuRef575,170,194 - 75,170,478UniSTS
TNG Radiation Hybrid Map562777.0UniSTS
L28413  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37580,090,031 - 80,090,279UniSTSGRCh37
Build 36580,125,787 - 80,126,035RGDNCBI36
Celera575,994,305 - 75,994,553RGD
Cytogenetic Map5q11-q12UniSTS
HuRef575,298,791 - 75,299,039UniSTS
SHGC-79040  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37580,071,227 - 80,071,575UniSTSGRCh37
Build 36580,106,983 - 80,107,331RGDNCBI36
Celera575,975,501 - 75,975,849RGD
Cytogenetic Map5q11-q12UniSTS
HuRef575,279,988 - 75,280,336UniSTS
TNG Radiation Hybrid Map562812.0UniSTS
SHGC-85199  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37580,148,311 - 80,148,587UniSTSGRCh37
Build 36580,184,067 - 80,184,343RGDNCBI36
Celera576,052,595 - 76,052,871RGD
Cytogenetic Map5q11-q12UniSTS
HuRef575,357,089 - 75,357,365UniSTS
TNG Radiation Hybrid Map562834.0UniSTS
G67227  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37580,064,551 - 80,064,948UniSTSGRCh37
Build 36580,100,307 - 80,100,704RGDNCBI36
Celera575,968,825 - 75,969,222RGD
Cytogenetic Map5q11-q12UniSTS
HuRef575,273,312 - 75,273,709UniSTS
G67224  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37580,149,878 - 80,150,305UniSTSGRCh37
Build 36580,185,634 - 80,186,061RGDNCBI36
Celera576,054,162 - 76,054,589RGD
Cytogenetic Map5q11-q12UniSTS
HuRef575,358,656 - 75,359,083UniSTS
G67225  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37580,160,505 - 80,160,874UniSTSGRCh37
Build 36580,196,261 - 80,196,630RGDNCBI36
Celera576,064,783 - 76,065,152RGD
Cytogenetic Map5q11-q12UniSTS
HuRef575,369,281 - 75,369,650UniSTS
G67226  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37579,965,845 - 79,966,297UniSTSGRCh37
Build 36580,001,601 - 80,002,053RGDNCBI36
Celera575,869,919 - 75,870,371RGD
Cytogenetic Map5q11-q12UniSTS
HuRef575,174,778 - 75,175,230UniSTS
G67223  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37579,974,689 - 79,975,079UniSTSGRCh37
Build 36580,010,445 - 80,010,835RGDNCBI36
Celera575,878,761 - 75,879,151RGD
Cytogenetic Map5q11-q12UniSTS
HuRef575,183,620 - 75,184,010UniSTS
G65717  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37580,131,755 - 80,131,977UniSTSGRCh37
Build 36580,167,511 - 80,167,733RGDNCBI36
Celera576,036,041 - 76,036,263RGD
Cytogenetic Map5q11-q12UniSTS
HuRef575,340,535 - 75,340,757UniSTS
PMC149466P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37579,950,537 - 79,950,686UniSTSGRCh37
Build 36579,986,293 - 79,986,442RGDNCBI36
Celera575,854,621 - 75,854,770RGD
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map5q11-q12UniSTS
Cytogenetic Map5q11.2-q13.2UniSTS
HuRef575,159,440 - 75,159,589UniSTS
MSH3_467  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37580,171,846 - 80,172,726UniSTSGRCh37
Build 36580,207,602 - 80,208,482RGDNCBI36
Celera576,076,122 - 76,077,002RGD
HuRef575,380,620 - 75,381,493UniSTS
SHGC-31088  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37580,132,217 - 80,132,342UniSTSGRCh37
Build 36580,167,973 - 80,168,098RGDNCBI36
Celera576,036,503 - 76,036,628RGD
Cytogenetic Map5q11-q12UniSTS
HuRef575,340,997 - 75,341,122UniSTS
Stanford-G3 RH Map53153.0UniSTS
GeneMap99-GB4 RH Map5389.18UniSTS
Whitehead-RH Map5284.1UniSTS
NCBI RH Map5415.0UniSTS
GeneMap99-G3 RH Map53148.0UniSTS
WI-18379  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37579,950,294 - 79,950,410UniSTSGRCh37
Build 36579,986,050 - 79,986,166RGDNCBI36
Celera575,854,379 - 75,854,494RGD
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map5q11-q12UniSTS
Cytogenetic Map5q11.2-q13.2UniSTS
HuRef575,159,197 - 75,159,313UniSTS
GeneMap99-GB4 RH Map5383.3UniSTS
Whitehead-RH Map5289.3UniSTS
G20893  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37580,055,464 - 80,055,568UniSTSGRCh37
Build 36580,091,220 - 80,091,324RGDNCBI36
Celera575,959,718 - 75,959,822RGD
Cytogenetic Map5q11-q12UniSTS
HuRef575,264,206 - 75,264,310UniSTS

miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR345hsa-miR-345-5pMirtarbaseexternal_infoCLASHFunctional MTI (Weak)23622248
MIR326hsa-miR-326Mirtarbaseexternal_infoLuciferase reporter assay//Microarray//qRT-PCR//WeFunctional MTI19883630

Predicted Target Of
Summary Value
Count of predictions:464
Count of miRNA genes:392
Interacting mature miRNAs:421
Transcripts:ENST00000265081, ENST00000512258, ENST00000512531
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 168 69 283 78 690 77 525 64 188 210 318 472 14 90 115 3
Low 2271 2844 1443 546 1240 388 3832 2076 3544 209 1142 1141 161 1 1114 2673 3 2
Below cutoff 78 21 57 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_016607 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_002439 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA601983 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC008434 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC010270 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC022493 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI817671 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK289856 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY275681 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC004177 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC011817 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC017273 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC098436 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC130434 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC130436 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF593920 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471084 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D61419 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GQ900965 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  J04810 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC877028 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U61981 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000265081   ⟹   ENSP00000265081
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl580,654,652 - 80,876,815 (+)Ensembl
RefSeq Acc Id: ENST00000512258
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl580,715,205 - 80,761,610 (+)Ensembl
RefSeq Acc Id: ENST00000512531
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl580,655,152 - 80,656,513 (+)Ensembl
RefSeq Acc Id: ENST00000658259   ⟹   ENSP00000499617
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl580,655,152 - 80,875,869 (+)Ensembl
RefSeq Acc Id: ENST00000659302   ⟹   ENSP00000499680
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl580,813,625 - 80,876,610 (+)Ensembl
RefSeq Acc Id: ENST00000667069   ⟹   ENSP00000499502
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl580,654,694 - 80,876,573 (+)Ensembl
RefSeq Acc Id: ENST00000670357   ⟹   ENSP00000499791
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl580,654,652 - 80,876,693 (+)Ensembl
RefSeq Acc Id: NM_002439   ⟹   NP_002430
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38580,654,652 - 80,876,815 (+)NCBI
GRCh37579,950,467 - 80,172,634 (+)NCBI
Build 36579,986,050 - 80,208,390 (+)NCBI Archive
HuRef575,159,370 - 75,381,401 (+)NCBI
CHM1_1579,383,713 - 79,605,325 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_002430   ⟸   NM_002439
- UniProtKB: P20585 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000499502   ⟸   ENST00000667069
RefSeq Acc Id: ENSP00000499617   ⟸   ENST00000658259
RefSeq Acc Id: ENSP00000499680   ⟸   ENST00000659302
RefSeq Acc Id: ENSP00000499791   ⟸   ENST00000670357
RefSeq Acc Id: ENSP00000265081   ⟸   ENST00000265081
Protein Domains
DNA_MISMATCH_REPAIR_2   MUTSd

Promoters
RGD ID:6803377
Promoter ID:HG_KWN:50576
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid
Transcripts:UC003KGZ.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36579,985,176 - 79,986,282 (+)MPROMDB
RGD ID:6870004
Promoter ID:EPDNEW_H8167
Type:initiation region
Name:MSH3_1
Description:mutS homolog 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38580,654,652 - 80,654,712EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_002439.5(MSH3):c.1148del (p.Lys383fs) deletion Endometrial carcinoma [RCV000240050]|Familial adenomatous polyposis 4 [RCV000009277]|Hereditary cancer-predisposing syndrome [RCV001017472]|not provided [RCV000822053] Chr5:80675096 [GRCh38]
Chr5:79970915 [GRCh37]
Chr5:5q14.1
pathogenic|other
NM_002439.5(MSH3):c.181_189dup (p.Ala61_Pro63dup) duplication Endometrial carcinoma [RCV000601631] Chr5:80654905..80654906 [GRCh38]
Chr5:79950724..79950725 [GRCh37]
Chr5:5q14.1
benign
GRCh38/hg38 5q13.3-22.1(chr5:74163186-110809453)x3 copy number gain See cases [RCV000051839] Chr5:74163186..110809453 [GRCh38]
Chr5:73459011..110145153 [GRCh37]
Chr5:73494767..110173052 [NCBI36]
Chr5:5q13.3-22.1
pathogenic
GRCh38/hg38 5q14.1(chr5:79665668-81197686)x1 copy number loss See cases [RCV000052576] Chr5:79665668..81197686 [GRCh38]
Chr5:78961491..80493505 [GRCh37]
Chr5:78997247..80529261 [NCBI36]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.186_194GCCCCCAGC[3] (p.64_66PAP[3]) microsatellite not provided [RCV000951258]|not specified [RCV000202801] Chr5:80654908..80654909 [GRCh38]
Chr5:79950727..79950728 [GRCh37]
Chr5:5q14.1
benign|uncertain significance
NM_002439.5(MSH3):c.2319-1G>A single nucleotide variant Familial adenomatous polyposis 4 [RCV000240037]|Hereditary cancer-predisposing syndrome [RCV001015164]|not provided [RCV000801200] Chr5:80778719 [GRCh38]
Chr5:80074538 [GRCh37]
Chr5:5q14.1
pathogenic
NM_002439.5(MSH3):c.3001-2A>C single nucleotide variant Familial adenomatous polyposis 4 [RCV000240222] Chr5:80864811 [GRCh38]
Chr5:80160630 [GRCh37]
Chr5:5q14.1
pathogenic
NM_002439.5(MSH3):c.2760del (p.Tyr921fs) deletion Familial adenomatous polyposis 4 [RCV000240520]|not provided [RCV000808056] Chr5:80813687 [GRCh38]
Chr5:80109506 [GRCh37]
Chr5:5q14.1
pathogenic
NM_002439.5(MSH3):c.2690C>G (p.Pro897Arg) single nucleotide variant not provided [RCV001052042] Chr5:80813618 [GRCh38]
Chr5:80109437 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.287C>T (p.Pro96Leu) single nucleotide variant not provided [RCV000806227] Chr5:80656460 [GRCh38]
Chr5:79952279 [GRCh37]
Chr5:5q14.1
uncertain significance
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789) copy number gain See cases [RCV000510723] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
GRCh37/hg19 5q14.1(chr5:79678575-80868550)x3 copy number gain See cases [RCV000448914] Chr5:79678575..80868550 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_000791.4(DHFR):c.-473T>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001015285]|not specified [RCV000454914] Chr5:80654962 [GRCh38]
Chr5:79950781 [GRCh37]
Chr5:5q14.1
benign
NM_000791.4(DHFR):c.-442_-434del deletion not specified [RCV000455926] Chr5:80654923..80654931 [GRCh38]
Chr5:79950742..79950750 [GRCh37]
Chr5:5q14.1
benign
GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1 copy number loss See cases [RCV000511978] Chr5:17628741..176575720 [GRCh37]
Chr5:5p15.1-q35.2
pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3 copy number gain See cases [RCV000512039] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
NM_002439.5(MSH3):c.2845C>T (p.Gln949Ter) single nucleotide variant not provided [RCV000512940] Chr5:80854161 [GRCh38]
Chr5:80149980 [GRCh37]
Chr5:5q14.1
uncertain significance
GRCh37/hg19 5q14.1(chr5:79625636-80884586)x3 copy number gain not provided [RCV000682570] Chr5:79625636..80884586 [GRCh37]
Chr5:5q14.1
uncertain significance
GRCh37/hg19 5q14.1(chr5:80080727-80490942)x3 copy number gain not provided [RCV000682572] Chr5:80080727..80490942 [GRCh37]
Chr5:5q14.1
uncertain significance
GRCh37/hg19 5q14.1(chr5:79992417-80346470)x3 copy number gain not provided [RCV000682571] Chr5:79992417..80346470 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.1914_1916CTT[1] (p.Phe639del) microsatellite Endometrial carcinoma [RCV000709806]|not provided [RCV000797172] Chr5:80767948..80767950 [GRCh38]
Chr5:80063767..80063769 [GRCh37]
Chr5:5q14.1
uncertain significance|not provided
NM_002439.5(MSH3):c.598C>G (p.Leu200Val) single nucleotide variant not provided [RCV000806162] Chr5:80670115 [GRCh38]
Chr5:79965934 [GRCh37]
Chr5:5q14.1
uncertain significance
GRCh37/hg19 5p15.33-q35.3(chr5:25328-180693344)x3 copy number gain not provided [RCV000744323] Chr5:25328..180693344 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:13648-180905029)x3 copy number gain not provided [RCV000744317] Chr5:13648..180905029 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
GRCh37/hg19 5q14.1(chr5:79939471-80073634)x1 copy number loss not provided [RCV000744890] Chr5:79939471..80073634 [GRCh37]
Chr5:5q14.1
benign
GRCh37/hg19 5q14.1(chr5:79990131-80337995)x3 copy number gain not provided [RCV000744891] Chr5:79990131..80337995 [GRCh37]
Chr5:5q14.1
benign
NM_002439.5(MSH3):c.2919C>T (p.Ile973=) single nucleotide variant not provided [RCV000976604] Chr5:80854235 [GRCh38]
Chr5:80150054 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.1454-5del deletion not provided [RCV000938090] Chr5:80728843 [GRCh38]
Chr5:80024662 [GRCh37]
Chr5:5q14.1
benign|likely benign
NM_002439.5(MSH3):c.1872A>G (p.Gly624=) single nucleotide variant not provided [RCV000938119] Chr5:80761654 [GRCh38]
Chr5:80057473 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.1654-7T>G single nucleotide variant not provided [RCV000940373] Chr5:80744499 [GRCh38]
Chr5:80040318 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.3297G>A (p.Thr1099=) single nucleotide variant not provided [RCV000940483] Chr5:80873282 [GRCh38]
Chr5:80169101 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.210C>T (p.Ala70=) single nucleotide variant not provided [RCV000936186] Chr5:80654937 [GRCh38]
Chr5:79950756 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.1251G>A (p.Arg417=) single nucleotide variant not provided [RCV000936225] Chr5:80679004 [GRCh38]
Chr5:79974823 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.2898A>G (p.Ala966=) single nucleotide variant not provided [RCV000936243] Chr5:80854214 [GRCh38]
Chr5:80150033 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.318A>G (p.Gln106=) single nucleotide variant not provided [RCV000940616] Chr5:80656491 [GRCh38]
Chr5:79952310 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.1182G>A (p.Gln394=) single nucleotide variant not provided [RCV000979775] Chr5:80678935 [GRCh38]
Chr5:79974754 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.2319-7C>T single nucleotide variant not provided [RCV000938268] Chr5:80778713 [GRCh38]
Chr5:80074532 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.279T>C (p.Asn93=) single nucleotide variant not provided [RCV000939008] Chr5:80656452 [GRCh38]
Chr5:79952271 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.1434A>G (p.Lys478=) single nucleotide variant not provided [RCV000939076] Chr5:80725546 [GRCh38]
Chr5:80021365 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.1377T>C (p.Asp459=) single nucleotide variant not provided [RCV000978245] Chr5:80725489 [GRCh38]
Chr5:80021308 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.150C>T (p.Gly50=) single nucleotide variant not provided [RCV000980469] Chr5:80654877 [GRCh38]
Chr5:79950696 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.2010C>T (p.Thr670=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001014073]|not provided [RCV000936353] Chr5:80768046 [GRCh38]
Chr5:80063865 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.1749A>C (p.Pro583=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001012970]|not provided [RCV000938520] Chr5:80744601 [GRCh38]
Chr5:80040420 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.3191C>T (p.Ala1064Val) single nucleotide variant not provided [RCV001053597] Chr5:80873176 [GRCh38]
Chr5:80168995 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2212A>T (p.Lys738Ter) single nucleotide variant Familial adenomatous polyposis 4 [RCV000987530]|Hereditary cancer-predisposing syndrome [RCV001014807]|not provided [RCV001048457] Chr5:80768962 [GRCh38]
Chr5:80064781 [GRCh37]
Chr5:5q14.1
pathogenic|likely pathogenic
NM_002439.5(MSH3):c.237+2T>C single nucleotide variant not provided [RCV001053813] Chr5:80654966 [GRCh38]
Chr5:79950785 [GRCh37]
Chr5:5q14.1
likely pathogenic
NM_002439.5(MSH3):c.1140C>G (p.Asp380Glu) single nucleotide variant not provided [RCV001054066] Chr5:80675095 [GRCh38]
Chr5:79970914 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.232C>T (p.His78Tyr) single nucleotide variant not provided [RCV001061079] Chr5:80654959 [GRCh38]
Chr5:79950778 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2489C>A (p.Thr830Asn) single nucleotide variant not provided [RCV001054795] Chr5:80787618 [GRCh38]
Chr5:80083437 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.257G>A (p.Arg86Lys) single nucleotide variant not provided [RCV001055536] Chr5:80656430 [GRCh38]
Chr5:79952249 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2913G>C (p.Leu971Phe) single nucleotide variant not provided [RCV001056458] Chr5:80854229 [GRCh38]
Chr5:80150048 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1035del (p.Pro346_Leu347insTer) deletion Hereditary cancer-predisposing syndrome [RCV001017087]|not provided [RCV000998402] Chr5:80674990 [GRCh38]
Chr5:79970809 [GRCh37]
Chr5:5q14.1
pathogenic|likely pathogenic
NM_002439.5(MSH3):c.1452A>G (p.Lys484=) single nucleotide variant not provided [RCV001060408] Chr5:80725564 [GRCh38]
Chr5:80021383 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.903A>G (p.Gly301=) single nucleotide variant not provided [RCV001060521] Chr5:80672354 [GRCh38]
Chr5:79968173 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.173C>T (p.Ala58Val) single nucleotide variant not provided [RCV000905511] Chr5:80654900 [GRCh38]
Chr5:79950719 [GRCh37]
Chr5:5q14.1
benign
NM_002439.5(MSH3):c.1560C>T (p.Ser520=) single nucleotide variant not provided [RCV000944736] Chr5:80728957 [GRCh38]
Chr5:80024776 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.238-8C>T single nucleotide variant not provided [RCV000929525] Chr5:80656403 [GRCh38]
Chr5:79952222 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.3131-5C>T single nucleotide variant not provided [RCV000944888] Chr5:80873111 [GRCh38]
Chr5:80168930 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.225G>A (p.Leu75=) single nucleotide variant not provided [RCV000944891] Chr5:80654952 [GRCh38]
Chr5:79950771 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.153_161TGCAGCGGC[3] (p.Ala60_Ala62dup) microsatellite not provided [RCV000901599] Chr5:80654877..80654878 [GRCh38]
Chr5:79950696..79950697 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.285G>A (p.Gly95=) single nucleotide variant not provided [RCV000981919] Chr5:80656458 [GRCh38]
Chr5:79952277 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.186_187insGCCGCAGCGCCCGCAGCG (p.Pro63_Pro64insAlaAlaAlaProAlaAla) insertion not provided [RCV000950405] Chr5:80654905..80654906 [GRCh38]
Chr5:79950724..79950725 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.1623A>G (p.Thr541=) single nucleotide variant not provided [RCV000929537] Chr5:80741518 [GRCh38]
Chr5:80037337 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.126T>C (p.Gly42=) single nucleotide variant not provided [RCV000928053] Chr5:80654853 [GRCh38]
Chr5:79950672 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.690G>A (p.Thr230=) single nucleotide variant not provided [RCV000923014] Chr5:80670207 [GRCh38]
Chr5:79966026 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.2732T>G (p.Leu911Trp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001016432]|not provided [RCV000882505] Chr5:80813660 [GRCh38]
Chr5:80109479 [GRCh37]
Chr5:5q14.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002439.5(MSH3):c.840T>C (p.Phe280=) single nucleotide variant not provided [RCV000928597] Chr5:80672291 [GRCh38]
Chr5:79968110 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.2907G>A (p.Gln969=) single nucleotide variant not provided [RCV000936221] Chr5:80854223 [GRCh38]
Chr5:80150042 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.153_161TGCAGCGGC[1] (p.Ala60_Ala62del) microsatellite not provided [RCV000881733] Chr5:80654878..80654886 [GRCh38]
Chr5:79950697..79950705 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.2529A>G (p.Gln843=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001015844]|not provided [RCV000925878] Chr5:80787658 [GRCh38]
Chr5:80083477 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.3231T>C (p.Asp1077=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001019342]|not provided [RCV000914745] Chr5:80873216 [GRCh38]
Chr5:80169035 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.1028-6T>C single nucleotide variant not provided [RCV000936808] Chr5:80674977 [GRCh38]
Chr5:79970796 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.2832T>C (p.Asn944=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001016724]|not provided [RCV000945297] Chr5:80854148 [GRCh38]
Chr5:80149967 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.146C>G (p.Pro49Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001011754]|not provided [RCV000936734] Chr5:80654873 [GRCh38]
Chr5:79950692 [GRCh37]
Chr5:5q14.1
likely benign|uncertain significance
NM_002439.5(MSH3):c.1258A>G (p.Ser420Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001010610]|not provided [RCV000927600] Chr5:80679011 [GRCh38]
Chr5:79974830 [GRCh37]
Chr5:5q14.1
likely benign|uncertain significance
NM_002439.5(MSH3):c.356C>T (p.Ser119Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001020634]|not provided [RCV000970446] Chr5:80656529 [GRCh38]
Chr5:79952348 [GRCh37]
Chr5:5q14.1
benign|uncertain significance
NM_002439.5(MSH3):c.1365C>T (p.Val455=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001011057]|not provided [RCV000936956] Chr5:80725477 [GRCh38]
Chr5:80021296 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.169G>C (p.Ala57Pro) single nucleotide variant not provided [RCV000936960] Chr5:80654896 [GRCh38]
Chr5:79950715 [GRCh37]
Chr5:5q14.1
benign
NM_002439.5(MSH3):c.915A>T (p.Gly305=) single nucleotide variant not provided [RCV000944070] Chr5:80672746 [GRCh38]
Chr5:79968565 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.2543+9T>G single nucleotide variant not provided [RCV000944076] Chr5:80787681 [GRCh38]
Chr5:80083500 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.2133A>G (p.Leu711=) single nucleotide variant not provided [RCV000982586] Chr5:80768883 [GRCh38]
Chr5:80064702 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.2436-5C>T single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001015529]|not provided [RCV000975773] Chr5:80787560 [GRCh38]
Chr5:80083379 [GRCh37]
Chr5:5q14.1
likely benign|uncertain significance
NM_002439.5(MSH3):c.1188C>G (p.Ala396=) single nucleotide variant not provided [RCV000928742] Chr5:80678941 [GRCh38]
Chr5:79974760 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.975C>A (p.Leu325=) single nucleotide variant not provided [RCV000936979] Chr5:80672806 [GRCh38]
Chr5:79968625 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.238-10C>T single nucleotide variant not provided [RCV000975916] Chr5:80656401 [GRCh38]
Chr5:79952220 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.171C>G (p.Ala57=) single nucleotide variant not provided [RCV000944321] Chr5:80654898 [GRCh38]
Chr5:79950717 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.1602T>C (p.Phe534=) single nucleotide variant not provided [RCV000928282] Chr5:80741497 [GRCh38]
Chr5:80037316 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.186G>A (p.Ala62=) single nucleotide variant not provided [RCV000976347] Chr5:80654913 [GRCh38]
Chr5:79950732 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.1212T>C (p.Ser404=) single nucleotide variant not provided [RCV000980822] Chr5:80678965 [GRCh38]
Chr5:79974784 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.1569-9C>T single nucleotide variant not provided [RCV000928931] Chr5:80741455 [GRCh38]
Chr5:80037274 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.48A>T (p.Ser16=) single nucleotide variant not provided [RCV000937710] Chr5:80654775 [GRCh38]
Chr5:79950594 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.2238A>G (p.Thr746=) single nucleotide variant not provided [RCV000983509] Chr5:80768988 [GRCh38]
Chr5:80064807 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.2226A>G (p.Ala742=) single nucleotide variant not provided [RCV000976909] Chr5:80768976 [GRCh38]
Chr5:80064795 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.1086T>C (p.Asp362=) single nucleotide variant not provided [RCV000938092] Chr5:80675041 [GRCh38]
Chr5:79970860 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.2943G>C (p.Thr981=) single nucleotide variant not provided [RCV000944613] Chr5:80854259 [GRCh38]
Chr5:80150078 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.1571A>C (p.Asn524Thr) single nucleotide variant Familial adenomatous polyposis 4 [RCV001254630]|Hereditary cancer-predisposing syndrome [RCV001012233]|not provided [RCV000966952]|not specified [RCV001002124] Chr5:80741466 [GRCh38]
Chr5:80037285 [GRCh37]
Chr5:5q14.1
benign|likely benign|uncertain significance
NM_002439.5(MSH3):c.1065T>C (p.Asn355=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001009824]|not provided [RCV000901407] Chr5:80675020 [GRCh38]
Chr5:79970839 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.169_177GCCGCAGCG[1] (p.Ala60_Ala62del) microsatellite not provided [RCV000973643]|not specified [RCV001001678] Chr5:80654890..80654898 [GRCh38]
Chr5:79950709..79950717 [GRCh37]
Chr5:5q14.1
benign
NM_002439.5(MSH3):c.633A>G (p.Glu211=) single nucleotide variant not provided [RCV000900205] Chr5:80670150 [GRCh38]
Chr5:79965969 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.88T>C (p.Ser30Pro) single nucleotide variant not provided [RCV001071074] Chr5:80654815 [GRCh38]
Chr5:79950634 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1028-10T>G single nucleotide variant not provided [RCV001037411] Chr5:80674973 [GRCh38]
Chr5:79970792 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.673T>G (p.Ser225Ala) single nucleotide variant not provided [RCV001037430] Chr5:80670190 [GRCh38]
Chr5:79966009 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.611G>T (p.Gly204Val) single nucleotide variant not provided [RCV001043842] Chr5:80670128 [GRCh38]
Chr5:79965947 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1296G>T (p.Leu432Phe) single nucleotide variant not provided [RCV001050519] Chr5:80679049 [GRCh38]
Chr5:79974868 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2542A>G (p.Arg848Gly) single nucleotide variant not provided [RCV001050520] Chr5:80787671 [GRCh38]
Chr5:80083490 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.14A>G (p.Lys5Arg) single nucleotide variant not provided [RCV001071481] Chr5:80654741 [GRCh38]
Chr5:79950560 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2200C>T (p.Arg734Ter) single nucleotide variant not provided [RCV001071793] Chr5:80768950 [GRCh38]
Chr5:80064769 [GRCh37]
Chr5:5q14.1
pathogenic
NM_002439.5(MSH3):c.3245T>C (p.Ile1082Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001019419]|not provided [RCV001048552] Chr5:80873230 [GRCh38]
Chr5:80169049 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.226C>G (p.Pro76Ala) single nucleotide variant not provided [RCV001044294] Chr5:80654953 [GRCh38]
Chr5:79950772 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2819G>A (p.Gly940Asp) single nucleotide variant not provided [RCV001044296] Chr5:80854135 [GRCh38]
Chr5:80149954 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.22T>A (p.Ser8Thr) single nucleotide variant not provided [RCV001044427] Chr5:80654749 [GRCh38]
Chr5:79950568 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.97A>C (p.Ser33Arg) single nucleotide variant not provided [RCV001050847] Chr5:80654824 [GRCh38]
Chr5:79950643 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1653+1G>A single nucleotide variant not provided [RCV001072039] Chr5:80741549 [GRCh38]
Chr5:80037368 [GRCh37]
Chr5:5q14.1
likely pathogenic
NM_002439.5(MSH3):c.97A>G (p.Ser33Gly) single nucleotide variant not provided [RCV001067465] Chr5:80654824 [GRCh38]
Chr5:79950643 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1037C>T (p.Pro346Leu) single nucleotide variant not provided [RCV001038663] Chr5:80674992 [GRCh38]
Chr5:79970811 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1640T>C (p.Ile547Thr) single nucleotide variant not provided [RCV001038932] Chr5:80741535 [GRCh38]
Chr5:80037354 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2513C>T (p.Ala838Val) single nucleotide variant not provided [RCV001039095] Chr5:80787642 [GRCh38]
Chr5:80083461 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.517A>C (p.Ser173Arg) single nucleotide variant not provided [RCV001039471] Chr5:80665301 [GRCh38]
Chr5:79961120 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.3184G>C (p.Gly1062Arg) single nucleotide variant not provided [RCV001052458] Chr5:80873169 [GRCh38]
Chr5:80168988 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2497T>G (p.Cys833Gly) single nucleotide variant not provided [RCV001051333] Chr5:80787626 [GRCh38]
Chr5:80083445 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1154A>G (p.Asn385Ser) single nucleotide variant not provided [RCV001067638] Chr5:80675109 [GRCh38]
Chr5:79970928 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.557C>T (p.Ser186Leu) single nucleotide variant not provided [RCV001039900] Chr5:80665341 [GRCh38]
Chr5:79961160 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1778G>T (p.Arg593Leu) single nucleotide variant not provided [RCV001040232] Chr5:80761560 [GRCh38]
Chr5:80057379 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.652T>C (p.Ser218Pro) single nucleotide variant not provided [RCV001045139] Chr5:80670169 [GRCh38]
Chr5:79965988 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.130G>C (p.Ala44Pro) single nucleotide variant not provided [RCV001045224] Chr5:80654857 [GRCh38]
Chr5:79950676 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.11G>A (p.Arg4Gln) single nucleotide variant not provided [RCV001064010] Chr5:80654738 [GRCh38]
Chr5:79950557 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.833A>C (p.His278Pro) single nucleotide variant not provided [RCV001064102] Chr5:80672284 [GRCh38]
Chr5:79968103 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1897-1G>A single nucleotide variant not provided [RCV001040485] Chr5:80767932 [GRCh38]
Chr5:80063751 [GRCh37]
Chr5:5q14.1
likely pathogenic
NM_002439.5(MSH3):c.3209T>C (p.Leu1070Ser) single nucleotide variant not provided [RCV001040520] Chr5:80873194 [GRCh38]
Chr5:80169013 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2586A>T (p.Gly862=) single nucleotide variant not provided [RCV001045258] Chr5:80792775 [GRCh38]
Chr5:80088594 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.513del (p.Asp171fs) deletion not provided [RCV001045550] Chr5:80665297 [GRCh38]
Chr5:79961116 [GRCh37]
Chr5:5q14.1
pathogenic
NM_002439.5(MSH3):c.2684C>A (p.Thr895Asn) single nucleotide variant not provided [RCV001068549] Chr5:80813612 [GRCh38]
Chr5:80109431 [GRCh37]
Chr5:5q14.1
uncertain significance
NC_000005.10:g.(?_80654718)_(80656541_?)dup duplication not provided [RCV001031542] Chr5:79950537..79952360 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2395C>G (p.Leu799Val) single nucleotide variant not provided [RCV001034722] Chr5:80778796 [GRCh38]
Chr5:80074615 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.395A>C (p.Lys132Thr) single nucleotide variant not provided [RCV001046367] Chr5:80665179 [GRCh38]
Chr5:79960998 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.3050T>C (p.Leu1017Pro) single nucleotide variant not provided [RCV001046369] Chr5:80864862 [GRCh38]
Chr5:80160681 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.3117C>T (p.Ser1039=) single nucleotide variant not provided [RCV001068582] Chr5:80864929 [GRCh38]
Chr5:80160748 [GRCh37]
Chr5:5q14.1
uncertain significance
NC_000005.10:g.(?_80665133)_(80665373_?)del deletion not provided [RCV001031642] Chr5:79960952..79961192 [GRCh37]
Chr5:5q14.1
pathogenic
NC_000005.10:g.(?_80656401)_(80656541_?)del deletion not provided [RCV001033431] Chr5:79952220..79952360 [GRCh37]
Chr5:5q14.1
pathogenic
NM_002439.5(MSH3):c.1251G>T (p.Arg417=) single nucleotide variant not provided [RCV001046452] Chr5:80679004 [GRCh38]
Chr5:79974823 [GRCh37]
Chr5:5q14.1
uncertain significance
NC_000005.10:g.(?_80725443)_(80761688_?)del deletion not provided [RCV001032616] Chr5:80021262..80057507 [GRCh37]
Chr5:5q14.1
pathogenic
NM_002439.5(MSH3):c.191C>T (p.Pro64Leu) single nucleotide variant not provided [RCV001061439] Chr5:80654918 [GRCh38]
Chr5:79950737 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.3059A>T (p.Asn1020Ile) single nucleotide variant not provided [RCV001061644] Chr5:80864871 [GRCh38]
Chr5:80160690 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1454G>T (p.Gly485Val) single nucleotide variant not provided [RCV001061992] Chr5:80728851 [GRCh38]
Chr5:80024670 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2936G>A (p.Arg979Lys) single nucleotide variant not provided [RCV001042167] Chr5:80854252 [GRCh38]
Chr5:80150071 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.839T>G (p.Phe280Cys) single nucleotide variant not provided [RCV001042416] Chr5:80672290 [GRCh38]
Chr5:79968109 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2326G>C (p.Ala776Pro) single nucleotide variant not provided [RCV001065405] Chr5:80778727 [GRCh38]
Chr5:80074546 [GRCh37]
Chr5:5q14.1
uncertain significance
NC_000005.10:g.(?_80725443)_(80741558_?)del deletion not provided [RCV001033569] Chr5:80021262..80037377 [GRCh37]
Chr5:5q14.1
pathogenic
NM_002439.5(MSH3):c.580-294_649del deletion not provided [RCV001062147] Chr5:80669802..80670165 [GRCh38]
Chr5:79965621..79965984 [GRCh37]
Chr5:5q14.1
likely pathogenic
NM_002439.5(MSH3):c.2279C>T (p.Ala760Val) single nucleotide variant not provided [RCV001065692] Chr5:80775719 [GRCh38]
Chr5:80071538 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1417dup (p.Thr473fs) duplication not provided [RCV001065748] Chr5:80725528..80725529 [GRCh38]
Chr5:80021347..80021348 [GRCh37]
Chr5:5q14.1
pathogenic
NC_000005.10:g.(?_80725443)_(80875862_?)dup duplication not provided [RCV001031893] Chr5:80021262..80171681 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.3151G>A (p.Asp1051Asn) single nucleotide variant not provided [RCV001062567] Chr5:80873136 [GRCh38]
Chr5:80168955 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1586C>T (p.Ser529Leu) single nucleotide variant not provided [RCV001035282] Chr5:80741481 [GRCh38]
Chr5:80037300 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.493A>G (p.Lys165Glu) single nucleotide variant not provided [RCV001035340] Chr5:80665277 [GRCh38]
Chr5:79961096 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.3349C>T (p.Gln1117Ter) single nucleotide variant not provided [RCV001035398] Chr5:80875797 [GRCh38]
Chr5:80171616 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.814A>T (p.Ile272Phe) single nucleotide variant not provided [RCV001048661] Chr5:80672265 [GRCh38]
Chr5:79968084 [GRCh37]
Chr5:5q14.1
uncertain significance
NC_000005.10:g.(?_80654049)_(80670319_?)dup duplication not provided [RCV001031384] Chr5:79949868..79966138 [GRCh37]
Chr5:5q14.1
uncertain significance
NC_000005.10:g.(?_80654049)_(80679103_?)del deletion not provided [RCV001032256] Chr5:79949868..79974922 [GRCh37]
Chr5:5q14.1
pathogenic
NM_002439.5(MSH3):c.364A>G (p.Lys122Glu) single nucleotide variant not provided [RCV001043002] Chr5:80665148 [GRCh38]
Chr5:79960967 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.428A>G (p.Asp143Gly) single nucleotide variant not provided [RCV001049481] Chr5:80665212 [GRCh38]
Chr5:79961031 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2026C>T (p.Pro676Ser) single nucleotide variant not provided [RCV001049506] Chr5:80768062 [GRCh38]
Chr5:80063881 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1232G>T (p.Arg411Leu) single nucleotide variant not provided [RCV001049552] Chr5:80678985 [GRCh38]
Chr5:79974804 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.704A>G (p.Gln235Arg) single nucleotide variant not provided [RCV001070736] Chr5:80670221 [GRCh38]
Chr5:79966040 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1127A>T (p.Glu376Val) single nucleotide variant not provided [RCV001070883] Chr5:80675082 [GRCh38]
Chr5:79970901 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2537A>C (p.Tyr846Ser) single nucleotide variant not provided [RCV001036556] Chr5:80787666 [GRCh38]
Chr5:80083485 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.3385G>C (p.Glu1129Gln) single nucleotide variant not provided [RCV001036597] Chr5:80875833 [GRCh38]
Chr5:80171652 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.237+5G>T single nucleotide variant not provided [RCV001036598] Chr5:80654969 [GRCh38]
Chr5:79950788 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2918T>C (p.Ile973Thr) single nucleotide variant not provided [RCV001043349] Chr5:80854234 [GRCh38]
Chr5:80150053 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2084A>G (p.Lys695Arg) single nucleotide variant not provided [RCV001043366] Chr5:80768120 [GRCh38]
Chr5:80063939 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1028-2A>T single nucleotide variant not provided [RCV001043522] Chr5:80674981 [GRCh38]
Chr5:79970800 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2189T>C (p.Leu730Ser) single nucleotide variant not provided [RCV001049875] Chr5:80768939 [GRCh38]
Chr5:80064758 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1052A>G (p.Asp351Gly) single nucleotide variant not provided [RCV000793658] Chr5:80675007 [GRCh38]
Chr5:79970826 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.237+3A>G single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001015316]|not provided [RCV000821174] Chr5:80654967 [GRCh38]
Chr5:79950786 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2156T>G (p.Ile719Ser) single nucleotide variant not provided [RCV000810371] Chr5:80768906 [GRCh38]
Chr5:80064725 [GRCh37]
Chr5:5q14.1
uncertain significance
Single allele deletion Neurodevelopmental disorder [RCV000787436] Chr5:14685137..149511942 [GRCh37]
Chr5:5p15.2-q32
uncertain significance
NM_002439.5(MSH3):c.178G>C (p.Ala60Pro) single nucleotide variant Cavernous Sinus Meningioma [RCV000786036]|Hereditary cancer-predisposing syndrome [RCV001013164] Chr5:80654905 [GRCh38]
Chr5:79950724 [GRCh37]
Chr5:5q14.1
benign|uncertain significance
NM_002439.5(MSH3):c.1060dup (p.Val354fs) duplication not provided [RCV000797925] Chr5:80675014..80675015 [GRCh38]
Chr5:79970833..79970834 [GRCh37]
Chr5:5q14.1
pathogenic
NM_002439.5(MSH3):c.1568+1G>A single nucleotide variant not provided [RCV000799225] Chr5:80728966 [GRCh38]
Chr5:80024785 [GRCh37]
Chr5:5q14.1
likely pathogenic
NM_002439.5(MSH3):c.1654-6_1654-3del microsatellite not provided [RCV000791604] Chr5:80744496..80744499 [GRCh38]
Chr5:80040315..80040318 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2253+3_2253+7del deletion Hereditary cancer-predisposing syndrome [RCV001014944]|not provided [RCV000813816] Chr5:80769004..80769008 [GRCh38]
Chr5:80064823..80064827 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1523A>G (p.Lys508Arg) single nucleotide variant not provided [RCV000792618] Chr5:80728920 [GRCh38]
Chr5:80024739 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.3001-8T>A single nucleotide variant not provided [RCV000812344] Chr5:80864805 [GRCh38]
Chr5:80160624 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2600T>C (p.Ile867Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001016072]|not provided [RCV000792920] Chr5:80792789 [GRCh38]
Chr5:80088608 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2610G>T (p.Leu870Phe) single nucleotide variant not provided [RCV000809547] Chr5:80792799 [GRCh38]
Chr5:80088618 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2114A>G (p.Asp705Gly) single nucleotide variant not provided [RCV000793351] Chr5:80768864 [GRCh38]
Chr5:80064683 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2803del (p.Ile935fs) deletion not provided [RCV000818810] Chr5:80813731 [GRCh38]
Chr5:80109550 [GRCh37]
Chr5:5q14.1
pathogenic
NM_002439.5(MSH3):c.2835A>G (p.Ile945Met) single nucleotide variant not provided [RCV000806679] Chr5:80854151 [GRCh38]
Chr5:80149970 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1887T>C (p.Tyr629=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001013561]|not provided [RCV000898244] Chr5:80761669 [GRCh38]
Chr5:80057488 [GRCh37]
Chr5:5q14.1
benign|likely benign
NM_002439.5(MSH3):c.2480A>G (p.His827Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001015645]|not provided [RCV000898245] Chr5:80787609 [GRCh38]
Chr5:80083428 [GRCh37]
Chr5:5q14.1
likely benign|uncertain significance
NM_002439.5(MSH3):c.111C>T (p.Thr37=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001009916]|not provided [RCV000881995] Chr5:80654838 [GRCh38]
Chr5:79950657 [GRCh37]
Chr5:5q14.1
benign|likely benign
NM_002439.5(MSH3):c.1992G>A (p.Gln664=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001013954]|not provided [RCV000886110] Chr5:80768028 [GRCh38]
Chr5:80063847 [GRCh37]
Chr5:5q14.1
benign|likely benign
NM_002439.5(MSH3):c.2901A>G (p.Thr967=) single nucleotide variant not provided [RCV000978974] Chr5:80854217 [GRCh38]
Chr5:80150036 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.2727T>C (p.Val909=) single nucleotide variant not provided [RCV000940139] Chr5:80813655 [GRCh38]
Chr5:80109474 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.1174-6T>G single nucleotide variant not provided [RCV000939368] Chr5:80678921 [GRCh38]
Chr5:79974740 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.580-4C>G single nucleotide variant not provided [RCV000977491] Chr5:80670093 [GRCh38]
Chr5:79965912 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.2943G>A (p.Thr981=) single nucleotide variant not provided [RCV000938636] Chr5:80854259 [GRCh38]
Chr5:80150078 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.2850T>C (p.Ser950=) single nucleotide variant not provided [RCV000978941] Chr5:80854166 [GRCh38]
Chr5:80149985 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.1763+9A>G single nucleotide variant not provided [RCV000942874] Chr5:80744624 [GRCh38]
Chr5:80040443 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.1386T>C (p.Tyr462=) single nucleotide variant not provided [RCV000983783] Chr5:80725498 [GRCh38]
Chr5:80021317 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.225G>T (p.Leu75=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001014964]|not provided [RCV000925527] Chr5:80654952 [GRCh38]
Chr5:79950771 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.162_179del (p.Ala57_Ala62del) deletion Familial adenomatous polyposis 4 [RCV000987529]|not provided [RCV000948701]|not specified [RCV001000293] Chr5:80654881..80654898 [GRCh38]
Chr5:79950700..79950717 [GRCh37]
Chr5:5q14.1
benign|likely benign
NM_002439.5(MSH3):c.2544-10T>C single nucleotide variant not provided [RCV000938339] Chr5:80792723 [GRCh38]
Chr5:80088542 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.408A>G (p.Lys136=) single nucleotide variant not provided [RCV000938862] Chr5:80665192 [GRCh38]
Chr5:79961011 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.1843C>T (p.Leu615=) single nucleotide variant not provided [RCV000944438] Chr5:80761625 [GRCh38]
Chr5:80057444 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.3027C>G (p.Thr1009=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001018158]|not provided [RCV000925185] Chr5:80864839 [GRCh38]
Chr5:80160658 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.1932T>C (p.Thr644=) single nucleotide variant not provided [RCV000936465] Chr5:80767968 [GRCh38]
Chr5:80063787 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.3027C>T (p.Thr1009=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001018160]|not provided [RCV000936522] Chr5:80864839 [GRCh38]
Chr5:80160658 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.2472A>G (p.Ala824=) single nucleotide variant not provided [RCV000938955] Chr5:80787601 [GRCh38]
Chr5:80083420 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.216G>A (p.Pro72=) single nucleotide variant not provided [RCV000977923] Chr5:80654943 [GRCh38]
Chr5:79950762 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.2457C>T (p.His819=) single nucleotide variant not provided [RCV000939054] Chr5:80787586 [GRCh38]
Chr5:80083405 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.2103A>G (p.Glu701=) single nucleotide variant not provided [RCV000936665] Chr5:80768853 [GRCh38]
Chr5:80064672 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.1431A>C (p.Ala477=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001011547]|not provided [RCV000939148] Chr5:80725543 [GRCh38]
Chr5:80021362 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.2436-4G>A single nucleotide variant not provided [RCV000979477] Chr5:80787561 [GRCh38]
Chr5:80083380 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.2355T>C (p.Ile785=) single nucleotide variant not provided [RCV000978218] Chr5:80778756 [GRCh38]
Chr5:80074575 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.222G>A (p.Gln74=) single nucleotide variant not provided [RCV000939334] Chr5:80654949 [GRCh38]
Chr5:79950768 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.1014A>C (p.Thr338=) single nucleotide variant not provided [RCV000940617] Chr5:80672845 [GRCh38]
Chr5:79968664 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.549T>C (p.Ser183=) single nucleotide variant not provided [RCV000938088] Chr5:80665333 [GRCh38]
Chr5:79961152 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.696A>C (p.Leu232=) single nucleotide variant not provided [RCV000943695] Chr5:80670213 [GRCh38]
Chr5:79966032 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.1160T>A (p.Phe387Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001010030]|not provided [RCV000909021] Chr5:80675115 [GRCh38]
Chr5:79970934 [GRCh37]
Chr5:5q14.1
likely benign|uncertain significance
NM_002439.5(MSH3):c.3302+7G>A single nucleotide variant not provided [RCV000979653] Chr5:80873294 [GRCh38]
Chr5:80169113 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.3198G>A (p.Arg1066=) single nucleotide variant not provided [RCV000945016] Chr5:80873183 [GRCh38]
Chr5:80169002 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.580-5G>T single nucleotide variant not provided [RCV000975921] Chr5:80670092 [GRCh38]
Chr5:79965911 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.1398C>T (p.Ser466=) single nucleotide variant not provided [RCV000937137] Chr5:80725510 [GRCh38]
Chr5:80021329 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.102G>C (p.Leu34=) single nucleotide variant not provided [RCV000918749] Chr5:80654829 [GRCh38]
Chr5:79950648 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.1902T>C (p.Ser634=) single nucleotide variant not provided [RCV000938381] Chr5:80767938 [GRCh38]
Chr5:80063757 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.2550T>G (p.Thr850=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001015903]|not provided [RCV000938382] Chr5:80792739 [GRCh38]
Chr5:80088558 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.2736T>A (p.Ile912=) single nucleotide variant not provided [RCV000943927] Chr5:80813664 [GRCh38]
Chr5:80109483 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.471G>A (p.Gln157=) single nucleotide variant not provided [RCV000978543] Chr5:80665255 [GRCh38]
Chr5:79961074 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.195G>T (p.Ala65=) single nucleotide variant not provided [RCV000940865] Chr5:80654922 [GRCh38]
Chr5:79950741 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.1644A>G (p.Leu548=) single nucleotide variant not provided [RCV000938637] Chr5:80741539 [GRCh38]
Chr5:80037358 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.144C>T (p.Asp48=) single nucleotide variant not provided [RCV000938647] Chr5:80654871 [GRCh38]
Chr5:79950690 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.1522A>G (p.Lys508Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001011998]|not provided [RCV000963325] Chr5:80728919 [GRCh38]
Chr5:80024738 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.1095C>T (p.Thr365=) single nucleotide variant not provided [RCV000979939] Chr5:80675050 [GRCh38]
Chr5:79970869 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.3302+7G>T single nucleotide variant not provided [RCV000931991] Chr5:80873294 [GRCh38]
Chr5:80169113 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.459A>G (p.Thr153=) single nucleotide variant not provided [RCV000977549] Chr5:80665243 [GRCh38]
Chr5:79961062 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.141G>A (p.Val47=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001011497]|not provided [RCV000943691] Chr5:80654868 [GRCh38]
Chr5:79950687 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.2543+7T>C single nucleotide variant not provided [RCV000979944] Chr5:80787679 [GRCh38]
Chr5:80083498 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.2748T>C (p.Ala916=) single nucleotide variant not provided [RCV000940984] Chr5:80813676 [GRCh38]
Chr5:80109495 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.1935A>G (p.Leu645=) single nucleotide variant not provided [RCV000919164] Chr5:80767971 [GRCh38]
Chr5:80063790 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.3303-4C>T single nucleotide variant not provided [RCV000932218] Chr5:80875747 [GRCh38]
Chr5:80171566 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.1710A>G (p.Ser570=) single nucleotide variant not provided [RCV000980357] Chr5:80744562 [GRCh38]
Chr5:80040381 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.186_194GCCCCCAGC[4] (p.64_66PAP[4]) microsatellite not provided [RCV000970131] Chr5:80654908..80654909 [GRCh38]
Chr5:79950727..79950728 [GRCh37]
Chr5:5q14.1
benign
NM_002439.5(MSH3):c.129A>G (p.Ala43=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001010590]|not provided [RCV000950688] Chr5:80654856 [GRCh38]
Chr5:79950675 [GRCh37]
Chr5:5q14.1
benign
NM_002439.5(MSH3):c.3000+10C>G single nucleotide variant not provided [RCV000942269] Chr5:80854326 [GRCh38]
Chr5:80150145 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.3048A>G (p.Glu1016=) single nucleotide variant not provided [RCV000930146] Chr5:80864860 [GRCh38]
Chr5:80160679 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.792+7C>T single nucleotide variant not provided [RCV000885880] Chr5:80670316 [GRCh38]
Chr5:79966135 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.2151T>C (p.Asp717=) single nucleotide variant not provided [RCV000941610] Chr5:80768901 [GRCh38]
Chr5:80064720 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.1962A>G (p.Ala654=) single nucleotide variant not provided [RCV000932646] Chr5:80767998 [GRCh38]
Chr5:80063817 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.2084+8C>G single nucleotide variant not provided [RCV000977860] Chr5:80768128 [GRCh38]
Chr5:80063947 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.2019A>G (p.Leu673=) single nucleotide variant not provided [RCV000940014] Chr5:80768055 [GRCh38]
Chr5:80063874 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.63A>G (p.Gln21=) single nucleotide variant not provided [RCV000940021] Chr5:80654790 [GRCh38]
Chr5:79950609 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.1028-5A>T single nucleotide variant not provided [RCV000942424] Chr5:80674978 [GRCh38]
Chr5:79970797 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.3294T>C (p.Asn1098=) single nucleotide variant not provided [RCV000981409] Chr5:80873279 [GRCh38]
Chr5:80169098 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.329G>A (p.Gly110Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001019779] Chr5:80656502 [GRCh38]
Chr5:79952321 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.3284G>A (p.Gly1095Glu) single nucleotide variant not provided [RCV000818886] Chr5:80873269 [GRCh38]
Chr5:80169088 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.300A>G (p.Lys100=) single nucleotide variant not provided [RCV000802518] Chr5:80656473 [GRCh38]
Chr5:79952292 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2992A>T (p.Ile998Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001017829]|not provided [RCV000802536] Chr5:80854308 [GRCh38]
Chr5:80150127 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2628A>G (p.Gln876=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001016085]|not provided [RCV000820714] Chr5:80792817 [GRCh38]
Chr5:80088636 [GRCh37]
Chr5:5q14.1
likely benign|uncertain significance
NM_002439.5(MSH3):c.2663C>G (p.Ser888Ter) single nucleotide variant not provided [RCV000804310] Chr5:80813591 [GRCh38]
Chr5:80109410 [GRCh37]
Chr5:5q14.1
pathogenic
NM_002439.5(MSH3):c.316C>G (p.Gln106Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001018944]|not provided [RCV000822585] Chr5:80656489 [GRCh38]
Chr5:79952308 [GRCh37]
Chr5:5q14.1
likely benign|uncertain significance
NM_002439.5(MSH3):c.2085-8T>C single nucleotide variant not provided [RCV000937705] Chr5:80768827 [GRCh38]
Chr5:80064646 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.3373G>A (p.Glu1125Lys) single nucleotide variant not provided [RCV000809573] Chr5:80875821 [GRCh38]
Chr5:80171640 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.3232G>A (p.Val1078Ile) single nucleotide variant not provided [RCV000813701] Chr5:80873217 [GRCh38]
Chr5:80169036 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1330A>G (p.Thr444Ala) single nucleotide variant not provided [RCV000792865] Chr5:80679083 [GRCh38]
Chr5:79974902 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1653+3C>G single nucleotide variant not provided [RCV000817544] Chr5:80741551 [GRCh38]
Chr5:80037370 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2985G>C (p.Glu995Asp) single nucleotide variant not provided [RCV000796503] Chr5:80854301 [GRCh38]
Chr5:80150120 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.386A>G (p.Asn129Ser) single nucleotide variant not provided [RCV000815683] Chr5:80665170 [GRCh38]
Chr5:79960989 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2066T>C (p.Leu689Pro) single nucleotide variant not provided [RCV000799262] Chr5:80768102 [GRCh38]
Chr5:80063921 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1122T>G (p.Asn374Lys) single nucleotide variant not provided [RCV000817229] Chr5:80675077 [GRCh38]
Chr5:79970896 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1720C>T (p.Arg574Trp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001012845]|not provided [RCV000800882] Chr5:80744572 [GRCh38]
Chr5:80040391 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.212T>C (p.Phe71Ser) single nucleotide variant not provided [RCV000820857] Chr5:80654939 [GRCh38]
Chr5:79950758 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2335C>G (p.Arg779Gly) single nucleotide variant not provided [RCV000804449] Chr5:80778736 [GRCh38]
Chr5:80074555 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2253+10A>G single nucleotide variant not provided [RCV000936972] Chr5:80769013 [GRCh38]
Chr5:80064832 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.2396T>G (p.Leu799Arg) single nucleotide variant not provided [RCV000793288] Chr5:80778797 [GRCh38]
Chr5:80074616 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1936T>C (p.Tyr646His) single nucleotide variant not provided [RCV000797492] Chr5:80767972 [GRCh38]
Chr5:80063791 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.869_872TGTT[1] (p.Val292fs) microsatellite not provided [RCV000797549] Chr5:80672320..80672323 [GRCh38]
Chr5:79968139..79968142 [GRCh37]
Chr5:5q14.1
pathogenic
NM_002439.5(MSH3):c.574C>T (p.Gln192Ter) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001024483]|not provided [RCV000797608] Chr5:80665358 [GRCh38]
Chr5:79961177 [GRCh37]
Chr5:5q14.1
pathogenic
NM_002439.5(MSH3):c.2410A>G (p.Ser804Gly) single nucleotide variant not provided [RCV000796765] Chr5:80778811 [GRCh38]
Chr5:80074630 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.3174A>G (p.Gln1058=) single nucleotide variant not provided [RCV000815705] Chr5:80873159 [GRCh38]
Chr5:80168978 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2083A>G (p.Lys695Glu) single nucleotide variant not provided [RCV000817403] Chr5:80768119 [GRCh38]
Chr5:80063938 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2179C>T (p.Arg727Ter) single nucleotide variant not provided [RCV000817435] Chr5:80768929 [GRCh38]
Chr5:80064748 [GRCh37]
Chr5:5q14.1
pathogenic
NM_002439.5(MSH3):c.2803A>G (p.Ile935Val) single nucleotide variant not provided [RCV000819057] Chr5:80813731 [GRCh38]
Chr5:80109550 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.113C>T (p.Ser38Phe) single nucleotide variant not provided [RCV000802703] Chr5:80654840 [GRCh38]
Chr5:79950659 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1798G>A (p.Val600Ile) single nucleotide variant not provided [RCV000802725] Chr5:80761580 [GRCh38]
Chr5:80057399 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1814C>G (p.Ser605Cys) single nucleotide variant not provided [RCV000819111] Chr5:80761596 [GRCh38]
Chr5:80057415 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1822T>G (p.Phe608Val) single nucleotide variant not provided [RCV000819112] Chr5:80761604 [GRCh38]
Chr5:80057423 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2384T>A (p.Leu795His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001015355]|not provided [RCV000823000] Chr5:80778785 [GRCh38]
Chr5:80074604 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.3166C>T (p.Leu1056Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001018891]|not provided [RCV000793538] Chr5:80873151 [GRCh38]
Chr5:80168970 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2655+1G>A single nucleotide variant not provided [RCV000818546] Chr5:80792845 [GRCh38]
Chr5:80088664 [GRCh37]
Chr5:5q14.1
likely pathogenic
NM_002439.5(MSH3):c.2336G>A (p.Arg779His) single nucleotide variant not provided [RCV000793567] Chr5:80778737 [GRCh38]
Chr5:80074556 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.15G>T (p.Lys5Asn) single nucleotide variant not provided [RCV000796995] Chr5:80654742 [GRCh38]
Chr5:79950561 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1929A>G (p.Lys643=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001013740]|not provided [RCV000817533] Chr5:80767965 [GRCh38]
Chr5:80063784 [GRCh37]
Chr5:5q14.1
likely benign|uncertain significance
NM_002439.5(MSH3):c.1858G>A (p.Asp620Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001013421]|not provided [RCV000802810] Chr5:80761640 [GRCh38]
Chr5:80057459 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.587C>T (p.Thr196Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001024633]|not provided [RCV000821104] Chr5:80670104 [GRCh38]
Chr5:79965923 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2125T>C (p.Phe709Leu) single nucleotide variant not provided [RCV000821106] Chr5:80768875 [GRCh38]
Chr5:80064694 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1412C>A (p.Ala471Glu) single nucleotide variant not provided [RCV000793529] Chr5:80725524 [GRCh38]
Chr5:80021343 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1108T>G (p.Cys370Gly) single nucleotide variant not provided [RCV000814559] Chr5:80675063 [GRCh38]
Chr5:79970882 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2774A>G (p.Glu925Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001016550]|not provided [RCV000797027] Chr5:80813702 [GRCh38]
Chr5:80109521 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2945G>C (p.Ser982Thr) single nucleotide variant not provided [RCV000797047] Chr5:80854261 [GRCh38]
Chr5:80150080 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2161G>C (p.Gly721Arg) single nucleotide variant not provided [RCV000813500] Chr5:80768911 [GRCh38]
Chr5:80064730 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.3198G>T (p.Arg1066Ser) single nucleotide variant not provided [RCV000797150] Chr5:80873183 [GRCh38]
Chr5:80169002 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.697G>T (p.Glu233Ter) single nucleotide variant not provided [RCV000813568] Chr5:80670214 [GRCh38]
Chr5:79966033 [GRCh37]
Chr5:5q14.1
pathogenic
NM_002439.5(MSH3):c.1790T>C (p.Val597Ala) single nucleotide variant not provided [RCV000813598] Chr5:80761572 [GRCh38]
Chr5:80057391 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2385_2396del (p.Arg796_Leu799del) deletion not provided [RCV000819374] Chr5:80778781..80778792 [GRCh38]
Chr5:80074600..80074611 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.3350A>G (p.Gln1117Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001020058]|not provided [RCV000819378] Chr5:80875798 [GRCh38]
Chr5:80171617 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1037C>G (p.Pro346Arg) single nucleotide variant not provided [RCV000819387] Chr5:80674992 [GRCh38]
Chr5:79970811 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1227T>G (p.Ala409=) single nucleotide variant not provided [RCV000936072] Chr5:80678980 [GRCh38]
Chr5:79974799 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.1179G>A (p.Val393=) single nucleotide variant not provided [RCV000937255] Chr5:80678932 [GRCh38]
Chr5:79974751 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.172G>C (p.Ala58Pro) single nucleotide variant not provided [RCV000937816] Chr5:80654899 [GRCh38]
Chr5:79950718 [GRCh37]
Chr5:5q14.1
benign
NM_002439.5(MSH3):c.189_190insGCAGCGGCCGCAGCGCCCGCAGCGCCC (p.Pro64_Ala65insAlaAlaAlaAlaAlaProAlaAlaPro) insertion not specified [RCV000790995] Chr5:80654905..80654906 [GRCh38]
Chr5:79950724..79950725 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2011G>A (p.Val671Ile) single nucleotide variant not provided [RCV000810097] Chr5:80768047 [GRCh38]
Chr5:80063866 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.653C>T (p.Ser218Phe) single nucleotide variant not provided [RCV000798342] Chr5:80670170 [GRCh38]
Chr5:79965989 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.554A>G (p.Asp185Gly) single nucleotide variant not provided [RCV000798455] Chr5:80665338 [GRCh38]
Chr5:79961157 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.188C>T (p.Pro63Leu) single nucleotide variant not provided [RCV000798529] Chr5:80654915 [GRCh38]
Chr5:79950734 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2524A>G (p.Lys842Glu) single nucleotide variant not provided [RCV000816066] Chr5:80787653 [GRCh38]
Chr5:80083472 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.884G>A (p.Arg295His) single nucleotide variant not provided [RCV000799630] Chr5:80672335 [GRCh38]
Chr5:79968154 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1346A>G (p.Gln449Arg) single nucleotide variant not provided [RCV000816091] Chr5:80725458 [GRCh38]
Chr5:80021277 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.889C>G (p.Leu297Val) single nucleotide variant not provided [RCV000803041] Chr5:80672340 [GRCh38]
Chr5:79968159 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.3214G>A (p.Val1072Met) single nucleotide variant not provided [RCV000804851] Chr5:80873199 [GRCh38]
Chr5:80169018 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.230C>T (p.Pro77Leu) single nucleotide variant not provided [RCV000804862] Chr5:80654957 [GRCh38]
Chr5:79950776 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1712T>C (p.Phe571Ser) single nucleotide variant not provided [RCV000823764] Chr5:80744564 [GRCh38]
Chr5:80040383 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.792+3A>G single nucleotide variant not provided [RCV000793176] Chr5:80670312 [GRCh38]
Chr5:79966131 [GRCh37]
Chr5:5q14.1
uncertain significance
NC_000005.10:g.(?_80725443)_(80744625_?)del deletion not provided [RCV000794125] Chr5:80725443..80744625 [GRCh38]
Chr5:80021262..80040444 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.112_114TCC[2] (p.Ser40del) microsatellite not provided [RCV000806736] Chr5:80654837..80654839 [GRCh38]
Chr5:79950656..79950658 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1259_1284delinsAG (p.Ser420_Leu428delinsLys) indel not provided [RCV000814946] Chr5:80679012..80679037 [GRCh38]
Chr5:79974831..79974856 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1661T>C (p.Met554Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001012635]|not provided [RCV000798591] Chr5:80744513 [GRCh38]
Chr5:80040332 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2845_2846inv (p.Gln949Trp) inversion not provided [RCV000813865] Chr5:80854161..80854162 [GRCh38]
Chr5:80149980..80149981 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.3096C>G (p.Phe1032Leu) single nucleotide variant not provided [RCV000797610] Chr5:80864908 [GRCh38]
Chr5:80160727 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2281G>T (p.Val761Leu) single nucleotide variant not provided [RCV000804930] Chr5:80775721 [GRCh38]
Chr5:80071540 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2533G>C (p.Asp845His) single nucleotide variant not provided [RCV000823800] Chr5:80787662 [GRCh38]
Chr5:80083481 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.3181A>G (p.Arg1061Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001019023]|not provided [RCV000936173] Chr5:80873166 [GRCh38]
Chr5:80168985 [GRCh37]
Chr5:5q14.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002439.5(MSH3):c.1148dup (p.Asn385fs) duplication not provided [RCV000797366] Chr5:80675095..80675096 [GRCh38]
Chr5:79970914..79970915 [GRCh37]
Chr5:5q14.1
pathogenic
NM_002439.5(MSH3):c.721C>A (p.Gln241Lys) single nucleotide variant not provided [RCV000810938] Chr5:80670238 [GRCh38]
Chr5:79966057 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1256C>G (p.Ser419Ter) single nucleotide variant not provided [RCV000794478] Chr5:80679009 [GRCh38]
Chr5:79974828 [GRCh37]
Chr5:5q14.1
pathogenic
NC_000005.9:g.(?_80168925)_(80171691_?)dup duplication not provided [RCV000814623] Chr5:80873106..80875872 [GRCh38]
Chr5:80168925..80171691 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.3188T>C (p.Ile1063Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001019052]|not provided [RCV000806258] Chr5:80873173 [GRCh38]
Chr5:80168992 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2695_2696del (p.Met899fs) deletion not provided [RCV000799885] Chr5:80813623..80813624 [GRCh38]
Chr5:80109442..80109443 [GRCh37]
Chr5:5q14.1
pathogenic
NM_002439.5(MSH3):c.344T>C (p.Met115Thr) single nucleotide variant not provided [RCV000817975] Chr5:80656517 [GRCh38]
Chr5:79952336 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1290G>A (p.Ser430=) single nucleotide variant not provided [RCV000801530] Chr5:80679043 [GRCh38]
Chr5:79974862 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.115T>A (p.Ser39Thr) single nucleotide variant not provided [RCV000803297] Chr5:80654842 [GRCh38]
Chr5:79950661 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2686G>A (p.Gly896Arg) single nucleotide variant not provided [RCV000803299] Chr5:80813614 [GRCh38]
Chr5:80109433 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1847G>A (p.Arg616His) single nucleotide variant not provided [RCV000803304] Chr5:80761629 [GRCh38]
Chr5:80057448 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.553G>C (p.Asp185His) single nucleotide variant not provided [RCV000819717] Chr5:80665337 [GRCh38]
Chr5:79961156 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2134A>G (p.Ile712Val) single nucleotide variant not provided [RCV000819733] Chr5:80768884 [GRCh38]
Chr5:80064703 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.623C>T (p.Thr208Ile) single nucleotide variant not provided [RCV000821535] Chr5:80670140 [GRCh38]
Chr5:79965959 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.92C>T (p.Thr31Met) single nucleotide variant not provided [RCV000824036] Chr5:80654819 [GRCh38]
Chr5:79950638 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1454-7T>A single nucleotide variant not provided [RCV000976244] Chr5:80728844 [GRCh38]
Chr5:80024663 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.2441T>G (p.Phe814Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001015558]|not provided [RCV000808067] Chr5:80787570 [GRCh38]
Chr5:80083389 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2387G>A (p.Arg796Gln) single nucleotide variant not provided [RCV000808098] Chr5:80778788 [GRCh38]
Chr5:80074607 [GRCh37]
Chr5:5q14.1
uncertain significance
NC_000005.9:g.(?_79950537)_(79966138_?)dup duplication not provided [RCV000821276] Chr5:80654718..80670319 [GRCh38]
Chr5:79950537..79966138 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.767A>G (p.Tyr256Cys) single nucleotide variant not provided [RCV000807557] Chr5:80670284 [GRCh38]
Chr5:79966103 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2686G>T (p.Gly896Ter) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001016296]|not provided [RCV000794026] Chr5:80813614 [GRCh38]
Chr5:80109433 [GRCh37]
Chr5:5q14.1
pathogenic
NM_002439.5(MSH3):c.167C>T (p.Ala56Val) single nucleotide variant not provided [RCV000797926] Chr5:80654894 [GRCh38]
Chr5:79950713 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2735T>G (p.Ile912Ser) single nucleotide variant not provided [RCV000814331] Chr5:80813663 [GRCh38]
Chr5:80109482 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.446G>A (p.Ser149Asn) single nucleotide variant not provided [RCV000798020] Chr5:80665230 [GRCh38]
Chr5:79961049 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.517A>G (p.Ser173Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001023666]|not provided [RCV000801641] Chr5:80665301 [GRCh38]
Chr5:79961120 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1111A>G (p.Ile371Val) single nucleotide variant not provided [RCV000818123] Chr5:80675066 [GRCh38]
Chr5:79970885 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2869A>T (p.Thr957Ser) single nucleotide variant not provided [RCV000801685] Chr5:80854185 [GRCh38]
Chr5:80150004 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.358G>A (p.Glu120Lys) single nucleotide variant not provided [RCV000821552] Chr5:80656531 [GRCh38]
Chr5:79952350 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.122C>T (p.Thr41Ile) single nucleotide variant not provided [RCV000805138] Chr5:80654849 [GRCh38]
Chr5:79950668 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.558G>A (p.Ser186=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001024301]|not provided [RCV000937451] Chr5:80665342 [GRCh38]
Chr5:79961161 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.886C>T (p.Arg296Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001018429]|not provided [RCV000795097] Chr5:80672337 [GRCh38]
Chr5:79968156 [GRCh37]
Chr5:5q14.1
uncertain significance
NC_000005.10:g.(?_80775684)_(80775768_?)del deletion not provided [RCV000823233] Chr5:80775684..80775768 [GRCh38]
Chr5:80071503..80071587 [GRCh37]
Chr5:5q14.1
pathogenic
NM_002439.5(MSH3):c.2751G>T (p.Gln917His) single nucleotide variant not provided [RCV000807002] Chr5:80813679 [GRCh38]
Chr5:80109498 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2807del (p.Phe936fs) deletion not provided [RCV000823848] Chr5:80813732 [GRCh38]
Chr5:80109551 [GRCh37]
Chr5:5q14.1
pathogenic
NM_002439.5(MSH3):c.671G>T (p.Arg224Leu) single nucleotide variant not provided [RCV000794159] Chr5:80670188 [GRCh38]
Chr5:79966007 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.3130+3A>G single nucleotide variant not provided [RCV000824569] Chr5:80864945 [GRCh38]
Chr5:80160764 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1981T>A (p.Ser661Thr) single nucleotide variant not provided [RCV000810728] Chr5:80768017 [GRCh38]
Chr5:80063836 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.923A>T (p.Lys308Met) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001019059]|not provided [RCV000814562] Chr5:80672754 [GRCh38]
Chr5:79968573 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2348C>A (p.Pro783His) single nucleotide variant not provided [RCV000811906] Chr5:80778749 [GRCh38]
Chr5:80074568 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2216dup (p.Asn739fs) duplication not provided [RCV000801643] Chr5:80768960..80768961 [GRCh38]
Chr5:80064779..80064780 [GRCh37]
Chr5:5q14.1
pathogenic
NM_002439.5(MSH3):c.1545_1546delinsC (p.Leu515fs) indel not provided [RCV000791812] Chr5:80728942..80728943 [GRCh38]
Chr5:80024761..80024762 [GRCh37]
Chr5:5q14.1
pathogenic
NM_002439.5(MSH3):c.792+1G>A single nucleotide variant not provided [RCV000802454] Chr5:80670310 [GRCh38]
Chr5:79966129 [GRCh37]
Chr5:5q14.1
likely pathogenic
NM_002439.5(MSH3):c.1763+2T>C single nucleotide variant not provided [RCV000802539] Chr5:80744617 [GRCh38]
Chr5:80040436 [GRCh37]
Chr5:5q14.1
likely pathogenic
NM_002439.5(MSH3):c.298A>G (p.Lys100Glu) single nucleotide variant not provided [RCV000798334] Chr5:80656471 [GRCh38]
Chr5:79952290 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.334G>A (p.Asp112Asn) single nucleotide variant not provided [RCV000816572] Chr5:80656507 [GRCh38]
Chr5:79952326 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.3175A>G (p.Ile1059Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001018974]|not provided [RCV000816597] Chr5:80873160 [GRCh38]
Chr5:80168979 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.244G>A (p.Glu82Lys) single nucleotide variant not provided [RCV000805363] Chr5:80656417 [GRCh38]
Chr5:79952236 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.596A>G (p.Asp199Gly) single nucleotide variant not provided [RCV000821836] Chr5:80670113 [GRCh38]
Chr5:79965932 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.195G>C (p.Ala65=) single nucleotide variant not provided [RCV000936349] Chr5:80654922 [GRCh38]
Chr5:79950741 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.266G>A (p.Arg89Lys) single nucleotide variant not provided [RCV000807581] Chr5:80656439 [GRCh38]
Chr5:79952258 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2988_3000+893del deletion not provided [RCV000803984] Chr5:80854304..80855209 [GRCh38]
Chr5:80150123..80151028 [GRCh37]
Chr5:5q14.1
likely pathogenic
NM_002439.5(MSH3):c.2176A>C (p.Ile726Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001014638]|not provided [RCV000794695] Chr5:80768926 [GRCh38]
Chr5:80064745 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.89C>T (p.Ser30Phe) single nucleotide variant not provided [RCV000814997] Chr5:80654816 [GRCh38]
Chr5:79950635 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.689C>T (p.Thr230Met) single nucleotide variant not provided [RCV000800224] Chr5:80670206 [GRCh38]
Chr5:79966025 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2167A>G (p.Ile723Val) single nucleotide variant not provided [RCV000816753] Chr5:80768917 [GRCh38]
Chr5:80064736 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.3073G>A (p.Val1025Met) single nucleotide variant not provided [RCV000801900] Chr5:80864885 [GRCh38]
Chr5:80160704 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.3043T>G (p.Cys1015Gly) single nucleotide variant not provided [RCV000801907] Chr5:80864855 [GRCh38]
Chr5:80160674 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.709A>G (p.Ile237Val) single nucleotide variant not provided [RCV000820198] Chr5:80670226 [GRCh38]
Chr5:79966045 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.3401C>A (p.Ser1134Tyr) single nucleotide variant not provided [RCV000820211] Chr5:80875849 [GRCh38]
Chr5:80171668 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2229A>G (p.Gln743=) single nucleotide variant not provided [RCV000805448] Chr5:80768979 [GRCh38]
Chr5:80064798 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.3382A>G (p.Met1128Val) single nucleotide variant not provided [RCV000821999] Chr5:80875830 [GRCh38]
Chr5:80171649 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2178C>A (p.Ile726=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001014644]|not provided [RCV000976433] Chr5:80768928 [GRCh38]
Chr5:80064747 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.426C>T (p.Cys142=) single nucleotide variant not provided [RCV000937973] Chr5:80665210 [GRCh38]
Chr5:79961029 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.1653+4A>G single nucleotide variant not provided [RCV000802434] Chr5:80741552 [GRCh38]
Chr5:80037371 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.896C>T (p.Ala299Val) single nucleotide variant not provided [RCV000812254] Chr5:80672347 [GRCh38]
Chr5:79968166 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1666A>G (p.Thr556Ala) single nucleotide variant not provided [RCV000812305] Chr5:80744518 [GRCh38]
Chr5:80040337 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.534G>T (p.Lys178Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001023965]|not provided [RCV000807910] Chr5:80665318 [GRCh38]
Chr5:79961137 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1904C>T (p.Thr635Ile) single nucleotide variant not provided [RCV000791523] Chr5:80767940 [GRCh38]
Chr5:80063759 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2155A>T (p.Ile719Phe) single nucleotide variant not provided [RCV000807977] Chr5:80768905 [GRCh38]
Chr5:80064724 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.802C>T (p.Arg268Ter) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001027086]|not provided [RCV000808080] Chr5:80672253 [GRCh38]
Chr5:79968072 [GRCh37]
Chr5:5q14.1
pathogenic
NM_002439.5(MSH3):c.581A>T (p.Asp194Val) single nucleotide variant not provided [RCV000800322] Chr5:80670098 [GRCh38]
Chr5:79965917 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.3364T>C (p.Trp1122Arg) single nucleotide variant not provided [RCV000816827] Chr5:80875812 [GRCh38]
Chr5:80171631 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2442C>G (p.Phe814Leu) single nucleotide variant not provided [RCV000800377] Chr5:80787571 [GRCh38]
Chr5:80083390 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.209C>T (p.Ala70Val) single nucleotide variant not provided [RCV000818464] Chr5:80654936 [GRCh38]
Chr5:79950755 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.3105T>A (p.Ser1035Arg) single nucleotide variant not provided [RCV000818475] Chr5:80864917 [GRCh38]
Chr5:80160736 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1595T>C (p.Met532Thr) single nucleotide variant not provided [RCV000818493] Chr5:80741490 [GRCh38]
Chr5:80037309 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.3035C>T (p.Pro1012Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001018221]|not provided [RCV000802084] Chr5:80864847 [GRCh38]
Chr5:80160666 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2185C>G (p.His729Asp) single nucleotide variant not provided [RCV000802105] Chr5:80768935 [GRCh38]
Chr5:80064754 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1841A>G (p.His614Arg) single nucleotide variant not provided [RCV000803821] Chr5:80761623 [GRCh38]
Chr5:80057442 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1012A>G (p.Thr338Ala) single nucleotide variant not provided [RCV000820305] Chr5:80672843 [GRCh38]
Chr5:79968662 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.3116G>A (p.Ser1039Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001018704]|not provided [RCV000822039] Chr5:80864928 [GRCh38]
Chr5:80160747 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.175G>A (p.Ala59Thr) single nucleotide variant not provided [RCV000822107] Chr5:80654902 [GRCh38]
Chr5:79950721 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1341-1G>T single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001010949]|not provided [RCV000803244] Chr5:80725452 [GRCh38]
Chr5:80021271 [GRCh37]
Chr5:5q14.1
likely pathogenic
NM_002439.5(MSH3):c.146del (p.Pro49fs) deletion not provided [RCV000803335] Chr5:80654871 [GRCh38]
Chr5:79950690 [GRCh37]
Chr5:5q14.1
pathogenic
NM_002439.5(MSH3):c.2290A>T (p.Ile764Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001015086]|not provided [RCV000791975] Chr5:80775730 [GRCh38]
Chr5:80071549 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1328C>T (p.Ala443Val) single nucleotide variant not provided [RCV000808511] Chr5:80679081 [GRCh38]
Chr5:79974900 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2655A>G (p.Ser885=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001016223]|not provided [RCV000812803] Chr5:80792844 [GRCh38]
Chr5:80088663 [GRCh37]
Chr5:5q14.1
likely benign|uncertain significance
NM_002439.5(MSH3):c.1088C>T (p.Thr363Ile) single nucleotide variant not provided [RCV000816935] Chr5:80675043 [GRCh38]
Chr5:79970862 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2992A>G (p.Ile998Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001017828]|not provided [RCV000816995] Chr5:80854308 [GRCh38]
Chr5:80150127 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2T>C (p.Met1Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001017957]|not provided [RCV000818648] Chr5:80654729 [GRCh38]
Chr5:79950548 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.776T>C (p.Phe259Ser) single nucleotide variant not provided [RCV000820339] Chr5:80670293 [GRCh38]
Chr5:79966112 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2754T>G (p.Ile918Met) single nucleotide variant not provided [RCV000803952] Chr5:80813682 [GRCh38]
Chr5:80109501 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2320A>G (p.Thr774Ala) single nucleotide variant not provided [RCV000803978] Chr5:80778721 [GRCh38]
Chr5:80074540 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1472G>T (p.Gly491Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001011769]|not provided [RCV000804024] Chr5:80728869 [GRCh38]
Chr5:80024688 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2434G>C (p.Glu812Gln) single nucleotide variant not provided [RCV000822141] Chr5:80778835 [GRCh38]
Chr5:80074654 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.464C>A (p.Ser155Tyr) single nucleotide variant not provided [RCV000805735] Chr5:80665248 [GRCh38]
Chr5:79961067 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.66G>A (p.Ala22=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001025550]|not provided [RCV000938032] Chr5:80654793 [GRCh38]
Chr5:79950612 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.1642del (p.Leu548fs) deletion not provided [RCV000806266] Chr5:80741536 [GRCh38]
Chr5:80037355 [GRCh37]
Chr5:5q14.1
pathogenic
NM_002439.5(MSH3):c.2557G>C (p.Glu853Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001015952]|not provided [RCV000812892] Chr5:80792746 [GRCh38]
Chr5:80088565 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2861A>G (p.Glu954Gly) single nucleotide variant not provided [RCV000812906] Chr5:80854177 [GRCh38]
Chr5:80149996 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.460_461del (p.Glu154fs) deletion not provided [RCV000796608] Chr5:80665243..80665244 [GRCh38]
Chr5:79961062..79961063 [GRCh37]
Chr5:5q14.1
pathogenic
NM_002439.5(MSH3):c.2032_2034CTC[1] (p.Leu679del) microsatellite not provided [RCV000796735] Chr5:80768068..80768070 [GRCh38]
Chr5:80063887..80063889 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.3410A>C (p.His1137Pro) single nucleotide variant not provided [RCV000808424] Chr5:80875858 [GRCh38]
Chr5:80171677 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1922T>C (p.Ile641Thr) single nucleotide variant not provided [RCV000808516] Chr5:80767958 [GRCh38]
Chr5:80063777 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1896+2T>C single nucleotide variant not provided [RCV000805762] Chr5:80761680 [GRCh38]
Chr5:80057499 [GRCh37]
Chr5:5q14.1
likely pathogenic
NM_002439.5(MSH3):c.1917C>G (p.Phe639Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001013691]|not provided [RCV000809262] Chr5:80767953 [GRCh38]
Chr5:80063772 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1436A>G (p.Asp479Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001011571]|not provided [RCV000812203] Chr5:80725548 [GRCh38]
Chr5:80021367 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2357T>C (p.Val786Ala) single nucleotide variant not provided [RCV000800623] Chr5:80778758 [GRCh38]
Chr5:80074577 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.3368C>G (p.Thr1123Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001020108]|not provided [RCV000818710] Chr5:80875816 [GRCh38]
Chr5:80171635 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1629G>C (p.Arg543Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001012488]|not provided [RCV000802316] Chr5:80741524 [GRCh38]
Chr5:80037343 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1908A>G (p.Gln636=) single nucleotide variant not provided [RCV000818729] Chr5:80767944 [GRCh38]
Chr5:80063763 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1937A>G (p.Tyr646Cys) single nucleotide variant not provided [RCV000820472] Chr5:80767973 [GRCh38]
Chr5:80063792 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.421T>C (p.Cys141Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001022079]|not provided [RCV000820495] Chr5:80665205 [GRCh38]
Chr5:79961024 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2814-5del deletion not provided [RCV000937655] Chr5:80854124 [GRCh38]
Chr5:80149943 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.1944A>G (p.Leu648=) single nucleotide variant not provided [RCV000976914] Chr5:80767980 [GRCh38]
Chr5:80063799 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.1454-2A>G single nucleotide variant not provided [RCV000810438] Chr5:80728849 [GRCh38]
Chr5:80024668 [GRCh37]
Chr5:5q14.1
likely pathogenic
NM_002439.5(MSH3):c.2173G>A (p.Glu725Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001014676]|not provided [RCV000808716] Chr5:80768923 [GRCh38]
Chr5:80064742 [GRCh37]
Chr5:5q14.1
likely benign|uncertain significance
NM_002439.5(MSH3):c.1453G>T (p.Gly485Cys) single nucleotide variant not provided [RCV000792418] Chr5:80725565 [GRCh38]
Chr5:80021384 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.215C>A (p.Pro72Gln) single nucleotide variant not provided [RCV000808917] Chr5:80654942 [GRCh38]
Chr5:79950761 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2652A>T (p.Leu884Phe) single nucleotide variant not provided [RCV000792992] Chr5:80792841 [GRCh38]
Chr5:80088660 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.3346G>T (p.Ala1116Ser) single nucleotide variant not provided [RCV000799074] Chr5:80875794 [GRCh38]
Chr5:80171613 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2327C>A (p.Ala776Asp) single nucleotide variant not provided [RCV000799132] Chr5:80778728 [GRCh38]
Chr5:80074547 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.122C>G (p.Thr41Arg) single nucleotide variant not provided [RCV000815604] Chr5:80654849 [GRCh38]
Chr5:79950668 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.3275A>T (p.Glu1092Val) single nucleotide variant not provided [RCV000800728] Chr5:80873260 [GRCh38]
Chr5:80169079 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1816A>G (p.Ser606Gly) single nucleotide variant not provided [RCV000802350] Chr5:80761598 [GRCh38]
Chr5:80057417 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1430C>T (p.Ala477Val) single nucleotide variant not provided [RCV000802358] Chr5:80725542 [GRCh38]
Chr5:80021361 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2627A>C (p.Gln876Pro) single nucleotide variant not provided [RCV000818796] Chr5:80792816 [GRCh38]
Chr5:80088635 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.20C>G (p.Ala7Gly) single nucleotide variant not provided [RCV000805858] Chr5:80654747 [GRCh38]
Chr5:79950566 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1361G>A (p.Arg454Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001011127]|not provided [RCV000805983] Chr5:80725473 [GRCh38]
Chr5:80021292 [GRCh37]
Chr5:5q14.1
likely benign|uncertain significance
NM_002439.5(MSH3):c.2508C>T (p.Ser836=) single nucleotide variant not provided [RCV000936813] Chr5:80787637 [GRCh38]
Chr5:80083456 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.2436-1G>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001015528]|not provided [RCV000811107] Chr5:80787564 [GRCh38]
Chr5:80083383 [GRCh37]
Chr5:5q14.1
likely pathogenic
NM_002439.5(MSH3):c.2874_2875CA[1] (p.Thr959fs) microsatellite not provided [RCV000813391] Chr5:80854189..80854190 [GRCh38]
Chr5:80150008..80150009 [GRCh37]
Chr5:5q14.1
pathogenic
NM_002439.5(MSH3):c.1568+3_1568+6del deletion not provided [RCV000811765] Chr5:80728965..80728968 [GRCh38]
Chr5:80024784..80024787 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2543+4del deletion not provided [RCV000819625] Chr5:80787675 [GRCh38]
Chr5:80083494 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1606A>G (p.Thr536Ala) single nucleotide variant not provided [RCV000792604] Chr5:80741501 [GRCh38]
Chr5:80037320 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.358+2T>G single nucleotide variant not provided [RCV000815764] Chr5:80656533 [GRCh38]
Chr5:79952352 [GRCh37]
Chr5:5q14.1
likely pathogenic
NM_002439.5(MSH3):c.1900T>A (p.Ser634Thr) single nucleotide variant not provided [RCV000811754] Chr5:80767936 [GRCh38]
Chr5:80063755 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2731T>G (p.Leu911Val) single nucleotide variant not provided [RCV000799003] Chr5:80813659 [GRCh38]
Chr5:80109478 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2857A>T (p.Met953Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001016790]|not provided [RCV000799047] Chr5:80854173 [GRCh38]
Chr5:80149992 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.34G>A (p.Ala12Thr) single nucleotide variant not provided [RCV000795775] Chr5:80654761 [GRCh38]
Chr5:79950580 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.3359A>G (p.Gln1120Arg) single nucleotide variant not provided [RCV000799226] Chr5:80875807 [GRCh38]
Chr5:80171626 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.3338T>C (p.Met1113Thr) single nucleotide variant not provided [RCV000799228] Chr5:80875786 [GRCh38]
Chr5:80171605 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1793C>T (p.Ser598Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001013191]|not provided [RCV000799331] Chr5:80761575 [GRCh38]
Chr5:80057394 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1001A>T (p.Tyr334Phe) single nucleotide variant not provided [RCV000799375] Chr5:80672832 [GRCh38]
Chr5:79968651 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.909+3C>A single nucleotide variant not provided [RCV000815811] Chr5:80672363 [GRCh38]
Chr5:79968182 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1817G>A (p.Ser606Asn) single nucleotide variant not provided [RCV000809864] Chr5:80761599 [GRCh38]
Chr5:80057418 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.761A>T (p.Tyr254Phe) single nucleotide variant not provided [RCV000819596] Chr5:80670278 [GRCh38]
Chr5:79966097 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2414C>A (p.Ala805Asp) single nucleotide variant not provided [RCV000803203] Chr5:80778815 [GRCh38]
Chr5:80074634 [GRCh37]
Chr5:5q14.1
uncertain significance
GRCh37/hg19 5q14.1(chr5:80001169-80034868)x1 copy number loss not provided [RCV000849027] Chr5:80001169..80034868 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.227_229CGC[3] (p.Pro77dup) microsatellite Hereditary cancer-predisposing syndrome [RCV001015119]|not provided [RCV000812566] Chr5:80654951..80654952 [GRCh38]
Chr5:79950770..79950771 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1778G>A (p.Arg593Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001013146]|not provided [RCV000799438] Chr5:80761560 [GRCh38]
Chr5:80057379 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2245G>C (p.Gly749Arg) single nucleotide variant not provided [RCV000799479] Chr5:80768995 [GRCh38]
Chr5:80064814 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.3267G>T (p.Lys1089Asn) single nucleotide variant not provided [RCV000793599] Chr5:80873252 [GRCh38]
Chr5:80169071 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1361G>C (p.Arg454Pro) single nucleotide variant not provided [RCV000793607] Chr5:80725473 [GRCh38]
Chr5:80021292 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2581A>C (p.Asn861His) single nucleotide variant not provided [RCV000796299] Chr5:80792770 [GRCh38]
Chr5:80088589 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.268C>A (p.Pro90Thr) single nucleotide variant not provided [RCV000796314] Chr5:80656441 [GRCh38]
Chr5:79952260 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2288G>T (p.Cys763Phe) single nucleotide variant not provided [RCV000799755] Chr5:80775728 [GRCh38]
Chr5:80071547 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1764-1G>A single nucleotide variant not provided [RCV000820000] Chr5:80761545 [GRCh38]
Chr5:80057364 [GRCh37]
Chr5:5q14.1
likely pathogenic
NM_002439.5(MSH3):c.2498G>A (p.Cys833Tyr) single nucleotide variant not provided [RCV000793756] Chr5:80787627 [GRCh38]
Chr5:80083446 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.3137C>T (p.Ala1046Val) single nucleotide variant not provided [RCV000820151] Chr5:80873122 [GRCh38]
Chr5:80168941 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2785A>G (p.Ile929Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001016602]|not provided [RCV000812973] Chr5:80813713 [GRCh38]
Chr5:80109532 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1380C>A (p.Asn460Lys) single nucleotide variant not provided [RCV000799944] Chr5:80725492 [GRCh38]
Chr5:80021311 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.971C>T (p.Ser324Leu) single nucleotide variant not provided [RCV000822733] Chr5:80672802 [GRCh38]
Chr5:79968621 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.3106G>A (p.Glu1036Lys) single nucleotide variant not provided [RCV000812995] Chr5:80864918 [GRCh38]
Chr5:80160737 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1766A>C (p.Glu589Ala) single nucleotide variant not provided [RCV000813004] Chr5:80761548 [GRCh38]
Chr5:80057367 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.847G>T (p.Ala283Ser) single nucleotide variant not provided [RCV000813010] Chr5:80672298 [GRCh38]
Chr5:79968117 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2869A>G (p.Thr957Ala) single nucleotide variant not provided [RCV000813080] Chr5:80854185 [GRCh38]
Chr5:80150004 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.582C>G (p.Asp194Glu) single nucleotide variant not provided [RCV000796714] Chr5:80670099 [GRCh38]
Chr5:79965918 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1861A>G (p.Ile621Val) single nucleotide variant not provided [RCV000813112] Chr5:80761643 [GRCh38]
Chr5:80057462 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.439C>T (p.Pro147Ser) single nucleotide variant not provided [RCV000820203] Chr5:80665223 [GRCh38]
Chr5:79961042 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.110C>A (p.Thr37Asn) single nucleotide variant not provided [RCV000796937] Chr5:80654837 [GRCh38]
Chr5:79950656 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.601A>C (p.Ser201Arg) single nucleotide variant not provided [RCV000813388] Chr5:80670118 [GRCh38]
Chr5:79965937 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1840C>T (p.His614Tyr) single nucleotide variant not provided [RCV000813406] Chr5:80761622 [GRCh38]
Chr5:80057441 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2867_2870TGAC[1] (p.Asp958fs) microsatellite not provided [RCV000806865] Chr5:80854181..80854184 [GRCh38]
Chr5:80150000..80150003 [GRCh37]
Chr5:5q14.1
pathogenic
NM_002439.5(MSH3):c.1316T>C (p.Leu439Pro) single nucleotide variant not provided [RCV000807059] Chr5:80679069 [GRCh38]
Chr5:79974888 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.122C>A (p.Thr41Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001010447]|not provided [RCV000800845] Chr5:80654849 [GRCh38]
Chr5:79950668 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2917A>G (p.Ile973Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001016927]|not provided [RCV000804100] Chr5:80854233 [GRCh38]
Chr5:80150052 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1231C>T (p.Arg411Cys) single nucleotide variant not provided [RCV000804132] Chr5:80678984 [GRCh38]
Chr5:79974803 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.692C>T (p.Pro231Leu) single nucleotide variant not provided [RCV000810465] Chr5:80670209 [GRCh38]
Chr5:79966028 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2821G>A (p.Ala941Thr) single nucleotide variant not provided [RCV000794062] Chr5:80854137 [GRCh38]
Chr5:80149956 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2107_2110del (p.Phe703fs) deletion not provided [RCV000797127] Chr5:80768854..80768857 [GRCh38]
Chr5:80064673..80064676 [GRCh37]
Chr5:5q14.1
pathogenic
NM_002439.5(MSH3):c.3296C>T (p.Thr1099Met) single nucleotide variant not provided [RCV000797210] Chr5:80873281 [GRCh38]
Chr5:80169100 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.145C>T (p.Pro49Ser) single nucleotide variant not provided [RCV000807326] Chr5:80654872 [GRCh38]
Chr5:79950691 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.758G>C (p.Gly253Ala) single nucleotide variant not provided [RCV000820685] Chr5:80670275 [GRCh38]
Chr5:79966094 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.353A>T (p.Asn118Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001020555]|not provided [RCV000804346] Chr5:80656526 [GRCh38]
Chr5:79952345 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2583T>A (p.Asn861Lys) single nucleotide variant not provided [RCV000823440] Chr5:80792772 [GRCh38]
Chr5:80088591 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1586C>G (p.Ser529Ter) single nucleotide variant not provided [RCV000823459] Chr5:80741481 [GRCh38]
Chr5:80037300 [GRCh37]
Chr5:5q14.1
pathogenic
NM_002439.5(MSH3):c.1699A>G (p.Thr567Ala) single nucleotide variant not provided [RCV000823467] Chr5:80744551 [GRCh38]
Chr5:80040370 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2436-3T>C single nucleotide variant not provided [RCV000796163] Chr5:80787562 [GRCh38]
Chr5:80083381 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.448A>G (p.Arg150Gly) single nucleotide variant not provided [RCV000817546] Chr5:80665232 [GRCh38]
Chr5:79961051 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2743A>G (p.Met915Val) single nucleotide variant not provided [RCV000801267] Chr5:80813671 [GRCh38]
Chr5:80109490 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.620A>G (p.Asn207Ser) single nucleotide variant not provided [RCV000817729] Chr5:80670137 [GRCh38]
Chr5:79965956 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.59G>A (p.Arg20Lys) single nucleotide variant not provided [RCV000820855] Chr5:80654786 [GRCh38]
Chr5:79950605 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.670C>G (p.Arg224Gly) single nucleotide variant not provided [RCV000820879] Chr5:80670187 [GRCh38]
Chr5:79966006 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2425G>A (p.Asp809Asn) single nucleotide variant not provided [RCV000823491] Chr5:80778826 [GRCh38]
Chr5:80074645 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1622C>T (p.Thr541Ile) single nucleotide variant not provided [RCV000797556] Chr5:80741517 [GRCh38]
Chr5:80037336 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2387G>T (p.Arg796Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001015365]|not provided [RCV000814033] Chr5:80778788 [GRCh38]
Chr5:80074607 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.586del (p.Thr196fs) deletion not provided [RCV000797056] Chr5:80670102 [GRCh38]
Chr5:79965921 [GRCh37]
Chr5:5q14.1
pathogenic
NM_002439.5(MSH3):c.2084+5G>C single nucleotide variant not provided [RCV000797215] Chr5:80768125 [GRCh38]
Chr5:80063944 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.792+4A>C single nucleotide variant not provided [RCV000799561] Chr5:80670313 [GRCh38]
Chr5:79966132 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.790G>C (p.Glu264Gln) single nucleotide variant not provided [RCV000817866] Chr5:80670307 [GRCh38]
Chr5:79966126 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.86A>G (p.Gln29Arg) single nucleotide variant not provided [RCV000817963] Chr5:80654813 [GRCh38]
Chr5:79950632 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2818G>T (p.Gly940Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001016675]|not provided [RCV000821071] Chr5:80854134 [GRCh38]
Chr5:80149953 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.909+3C>T single nucleotide variant not provided [RCV000799926] Chr5:80672363 [GRCh38]
Chr5:79968182 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.316C>T (p.Gln106Ter) single nucleotide variant not provided [RCV000808146] Chr5:80656489 [GRCh38]
Chr5:79952308 [GRCh37]
Chr5:5q14.1
pathogenic
NM_002439.5(MSH3):c.2883_2885AAT[1] (p.Ile963del) microsatellite not provided [RCV000801640] Chr5:80854199..80854201 [GRCh38]
Chr5:80150018..80150020 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1519A>G (p.Ile507Val) single nucleotide variant not provided [RCV000821300] Chr5:80728916 [GRCh38]
Chr5:80024735 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1408C>A (p.Gln470Lys) single nucleotide variant not provided [RCV000824142] Chr5:80725520 [GRCh38]
Chr5:80021339 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2557_2559GAA[1] (p.Glu854del) microsatellite not provided [RCV000798012] Chr5:80792744..80792746 [GRCh38]
Chr5:80088563..80088565 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2341C>T (p.His781Tyr) single nucleotide variant not provided [RCV000798019] Chr5:80778742 [GRCh38]
Chr5:80074561 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.548C>T (p.Ser183Phe) single nucleotide variant not provided [RCV000798051] Chr5:80665332 [GRCh38]
Chr5:79961151 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.796G>T (p.Ala266Ser) single nucleotide variant not provided [RCV000814513] Chr5:80672247 [GRCh38]
Chr5:79968066 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2884A>G (p.Ile962Val) single nucleotide variant not provided [RCV000791899] Chr5:80854200 [GRCh38]
Chr5:80150019 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2438A>G (p.Lys813Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001015536]|not provided [RCV000821682] Chr5:80787567 [GRCh38]
Chr5:80083386 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2016T>G (p.Ile672Met) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001014064]|not provided [RCV000794249] Chr5:80768052 [GRCh38]
Chr5:80063871 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1669A>G (p.Lys557Glu) single nucleotide variant not provided [RCV000794443] Chr5:80744521 [GRCh38]
Chr5:80040340 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1366G>A (p.Glu456Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001011065]|not provided [RCV000814730] Chr5:80725478 [GRCh38]
Chr5:80021297 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1394A>G (p.Tyr465Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001011315]|not provided [RCV000808688] Chr5:80725506 [GRCh38]
Chr5:80021325 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2218C>T (p.Pro740Ser) single nucleotide variant not provided [RCV000792238] Chr5:80768968 [GRCh38]
Chr5:80064787 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.845C>T (p.Thr282Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001017841]|not provided [RCV000808717] Chr5:80672296 [GRCh38]
Chr5:79968115 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.106T>G (p.Ser36Ala) single nucleotide variant not provided [RCV000802127] Chr5:80654833 [GRCh38]
Chr5:79950652 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.470A>G (p.Gln157Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001022933]|not provided [RCV000802128] Chr5:80665254 [GRCh38]
Chr5:79961073 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1088C>A (p.Thr363Asn) single nucleotide variant not provided [RCV000802170] Chr5:80675043 [GRCh38]
Chr5:79970862 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1A>T (p.Met1Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001013981]|not provided [RCV000821779] Chr5:80654728 [GRCh38]
Chr5:79950547 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.16C>T (p.Pro6Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001012792]|not provided [RCV000805347] Chr5:80654743 [GRCh38]
Chr5:79950562 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1381A>G (p.Ile461Val) single nucleotide variant not provided [RCV000821820] Chr5:80725493 [GRCh38]
Chr5:80021312 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2069A>G (p.Asn690Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001014303]|not provided [RCV000824423] Chr5:80768105 [GRCh38]
Chr5:80063924 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1368A>C (p.Glu456Asp) single nucleotide variant not provided [RCV000824540] Chr5:80725480 [GRCh38]
Chr5:80021299 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1648_1649dup (p.Asn550fs) duplication Hereditary cancer-predisposing syndrome [RCV001012521]|not provided [RCV000811013] Chr5:80741542..80741543 [GRCh38]
Chr5:80037361..80037362 [GRCh37]
Chr5:5q14.1
pathogenic
NM_002439.5(MSH3):c.1360C>T (p.Arg454Ter) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001011178]|not provided [RCV000798380] Chr5:80725472 [GRCh38]
Chr5:80021291 [GRCh37]
Chr5:5q14.1
pathogenic
NM_002439.5(MSH3):c.650C>T (p.Ala217Val) single nucleotide variant not provided [RCV000798403] Chr5:80670167 [GRCh38]
Chr5:79965986 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2180G>A (p.Arg727Gln) single nucleotide variant not provided [RCV000802281] Chr5:80768930 [GRCh38]
Chr5:80064749 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2664_2665AG[2] (p.Glu889_Arg890insTer) microsatellite not provided [RCV000802403] Chr5:80813592..80813595 [GRCh38]
Chr5:80109411..80109414 [GRCh37]
Chr5:5q14.1
pathogenic
NM_002439.5(MSH3):c.1173G>A (p.Val391=) single nucleotide variant not provided [RCV000802446] Chr5:80675128 [GRCh38]
Chr5:79970947 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.907A>G (p.Lys303Glu) single nucleotide variant not provided [RCV000821909] Chr5:80672358 [GRCh38]
Chr5:79968177 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2161G>A (p.Gly721Ser) single nucleotide variant not provided [RCV000821944] Chr5:80768911 [GRCh38]
Chr5:80064730 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2695A>G (p.Met899Val) single nucleotide variant not provided [RCV000822029] Chr5:80813623 [GRCh38]
Chr5:80109442 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.909G>C (p.Lys303Asn) single nucleotide variant not provided [RCV000794811] Chr5:80672360 [GRCh38]
Chr5:79968179 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1261C>G (p.Leu421Val) single nucleotide variant not provided [RCV000794883] Chr5:80679014 [GRCh38]
Chr5:79974833 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2368A>G (p.Arg790Gly) single nucleotide variant not provided [RCV000794927] Chr5:80778769 [GRCh38]
Chr5:80074588 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.3149C>G (p.Pro1050Arg) single nucleotide variant not provided [RCV000794996] Chr5:80873134 [GRCh38]
Chr5:80168953 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2738C>G (p.Thr913Ser) single nucleotide variant not provided [RCV000798631] Chr5:80813666 [GRCh38]
Chr5:80109485 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2262A>G (p.Ile754Met) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001014973]|not provided [RCV000815096] Chr5:80775702 [GRCh38]
Chr5:80071521 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.411G>C (p.Leu137Phe) single nucleotide variant not provided [RCV000809147] Chr5:80665195 [GRCh38]
Chr5:79961014 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.3130+4T>G single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001018752]|not provided [RCV000810585] Chr5:80864946 [GRCh38]
Chr5:80160765 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.708C>G (p.Tyr236Ter) single nucleotide variant not provided [RCV000802666] Chr5:80670225 [GRCh38]
Chr5:79966044 [GRCh37]
Chr5:5q14.1
pathogenic
NM_002439.5(MSH3):c.2085A>G (p.Lys695=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001014375]|not provided [RCV000822157] Chr5:80768835 [GRCh38]
Chr5:80064654 [GRCh37]
Chr5:5q14.1
likely benign|uncertain significance
NM_002439.5(MSH3):c.1331C>T (p.Thr444Ile) single nucleotide variant not provided [RCV000795235] Chr5:80679084 [GRCh38]
Chr5:79974903 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1132G>A (p.Val378Ile) single nucleotide variant not provided [RCV000815380] Chr5:80675087 [GRCh38]
Chr5:79970906 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1027+1A>C single nucleotide variant not provided [RCV000811709] Chr5:80672859 [GRCh38]
Chr5:79968678 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.358+5G>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001020657]|not provided [RCV000811950] Chr5:80656536 [GRCh38]
Chr5:79952355 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.916G>A (p.Val306Ile) single nucleotide variant not provided [RCV000809482] Chr5:80672747 [GRCh38]
Chr5:79968566 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1000T>A (p.Tyr334Asn) single nucleotide variant not provided [RCV000819184] Chr5:80672831 [GRCh38]
Chr5:79968650 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.307A>G (p.Lys103Glu) single nucleotide variant not provided [RCV000802863] Chr5:80656480 [GRCh38]
Chr5:79952299 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.3190G>A (p.Ala1064Thr) single nucleotide variant not provided [RCV000822507] Chr5:80873175 [GRCh38]
Chr5:80168994 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2798A>G (p.Asp933Gly) single nucleotide variant not provided [RCV000795015] Chr5:80813726 [GRCh38]
Chr5:80109545 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.282T>A (p.Asp94Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001016717]|not provided [RCV000795144] Chr5:80656455 [GRCh38]
Chr5:79952274 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.67G>A (p.Val23Ile) single nucleotide variant not provided [RCV001056454] Chr5:80654794 [GRCh38]
Chr5:79950613 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.584C>T (p.Thr195Ile) single nucleotide variant not provided [RCV000810091] Chr5:80670101 [GRCh38]
Chr5:79965920 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2274C>G (p.Asn758Lys) single nucleotide variant not provided [RCV001059768] Chr5:80775714 [GRCh38]
Chr5:80071533 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.107C>G (p.Ser36Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001009835]|not provided [RCV001220916] Chr5:80654834 [GRCh38]
Chr5:79950653 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2162G>C (p.Gly721Ala) single nucleotide variant not provided [RCV000793948] Chr5:80768912 [GRCh38]
Chr5:80064731 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2135T>C (p.Ile712Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001014469]|not provided [RCV000810430] Chr5:80768885 [GRCh38]
Chr5:80064704 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.529G>A (p.Ala177Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001023884]|not provided [RCV000810476] Chr5:80665313 [GRCh38]
Chr5:79961132 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1340+6T>C single nucleotide variant not provided [RCV000822793] Chr5:80679099 [GRCh38]
Chr5:79974918 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2776G>A (p.Glu926Lys) single nucleotide variant not provided [RCV000794051] Chr5:80813704 [GRCh38]
Chr5:80109523 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2544-5T>G single nucleotide variant not provided [RCV000823109] Chr5:80792728 [GRCh38]
Chr5:80088547 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1568+5G>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001012170]|not provided [RCV000823571] Chr5:80728970 [GRCh38]
Chr5:80024789 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1021G>A (p.Gly341Arg) single nucleotide variant not provided [RCV000795842] Chr5:80672852 [GRCh38]
Chr5:79968671 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1552A>G (p.Met518Val) single nucleotide variant not provided [RCV000812270] Chr5:80728949 [GRCh38]
Chr5:80024768 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2254-3T>C single nucleotide variant not provided [RCV001060853] Chr5:80775691 [GRCh38]
Chr5:80071510 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.3302+4A>C single nucleotide variant not provided [RCV000822975] Chr5:80873291 [GRCh38]
Chr5:80169110 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2786T>C (p.Ile929Thr) single nucleotide variant not provided [RCV000812468] Chr5:80813714 [GRCh38]
Chr5:80109533 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1249C>T (p.Arg417Trp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001010562]|not provided [RCV000796085] Chr5:80679002 [GRCh38]
Chr5:79974821 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2041C>T (p.Pro681Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001014195]|not provided [RCV000812556] Chr5:80768077 [GRCh38]
Chr5:80063896 [GRCh37]
Chr5:5q14.1
likely benign|uncertain significance
NM_002439.5(MSH3):c.2746G>A (p.Ala916Thr) single nucleotide variant not provided [RCV000812638] Chr5:80813674 [GRCh38]
Chr5:80109493 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.733G>A (p.Asp245Asn) single nucleotide variant not provided [RCV000796262] Chr5:80670250 [GRCh38]
Chr5:79966069 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.115T>C (p.Ser39Pro) single nucleotide variant not provided [RCV000807580] Chr5:80654842 [GRCh38]
Chr5:79950661 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2122G>A (p.Asp708Asn) single nucleotide variant not provided [RCV000812721] Chr5:80768872 [GRCh38]
Chr5:80064691 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2756G>A (p.Gly919Asp) single nucleotide variant not provided [RCV000812745] Chr5:80813684 [GRCh38]
Chr5:80109503 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2048A>T (p.Glu683Val) single nucleotide variant not provided [RCV000796361] Chr5:80768084 [GRCh38]
Chr5:80063903 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1308_1309AG[1] (p.Glu437fs) microsatellite not provided [RCV000796384] Chr5:80679061..80679062 [GRCh38]
Chr5:79974880..79974881 [GRCh37]
Chr5:5q14.1
pathogenic
NM_002439.5(MSH3):c.1718G>A (p.Arg573Lys) single nucleotide variant not provided [RCV000807784] Chr5:80744570 [GRCh38]
Chr5:80040389 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1341-2A>C single nucleotide variant not provided [RCV000799647] Chr5:80725451 [GRCh38]
Chr5:80021270 [GRCh37]
Chr5:5q14.1
likely pathogenic
NM_002439.5(MSH3):c.3226G>A (p.Ala1076Thr) single nucleotide variant not provided [RCV000791780] Chr5:80873211 [GRCh38]
Chr5:80169030 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1019T>C (p.Ile340Thr) single nucleotide variant not provided [RCV000808215] Chr5:80672850 [GRCh38]
Chr5:79968669 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.93G>A (p.Thr31=) single nucleotide variant not provided [RCV001053138] Chr5:80654820 [GRCh38]
Chr5:79950639 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2724A>G (p.Gln908=) single nucleotide variant not provided [RCV000808418] Chr5:80813652 [GRCh38]
Chr5:80109471 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2366A>G (p.Tyr789Cys) single nucleotide variant not provided [RCV000792007] Chr5:80778767 [GRCh38]
Chr5:80074586 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1703A>T (p.Lys568Ile) single nucleotide variant not provided [RCV000792035] Chr5:80744555 [GRCh38]
Chr5:80040374 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.562C>T (p.Arg188Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001024340]|not provided [RCV000792353] Chr5:80665346 [GRCh38]
Chr5:79961165 [GRCh37]
Chr5:5q14.1
likely benign|uncertain significance
NC_000005.9:g.(?_80021262)_(80171691_?)dup duplication not provided [RCV000798807] Chr5:80725443..80875872 [GRCh38]
Chr5:80021262..80171691 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2085-3dup duplication not provided [RCV000812650] Chr5:80768826..80768827 [GRCh38]
Chr5:80064645..80064646 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1027+4T>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001017019]|not provided [RCV000809714] Chr5:80672862 [GRCh38]
Chr5:79968681 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.433G>T (p.Ala145Ser) single nucleotide variant not provided [RCV000809148] Chr5:80665217 [GRCh38]
Chr5:79961036 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.143A>C (p.Asp48Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001011581]|not provided [RCV000792699] Chr5:80654870 [GRCh38]
Chr5:79950689 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1267C>T (p.Pro423Ser) single nucleotide variant not provided [RCV000809234] Chr5:80679020 [GRCh38]
Chr5:79974839 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.982C>T (p.Arg328Trp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001019793]|not provided [RCV000811232] Chr5:80672813 [GRCh38]
Chr5:79968632 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.3083A>G (p.Tyr1028Cys) single nucleotide variant not provided [RCV001054707] Chr5:80864895 [GRCh38]
Chr5:80160714 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.934A>G (p.Thr312Ala) single nucleotide variant not provided [RCV000792824] Chr5:80672765 [GRCh38]
Chr5:79968584 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.237+4G>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001015317]|not provided [RCV000811851] Chr5:80654968 [GRCh38]
Chr5:79950787 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2347C>A (p.Pro783Thr) single nucleotide variant not provided [RCV000809401] Chr5:80778748 [GRCh38]
Chr5:80074567 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.238-3T>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001015352]|not provided [RCV000813139] Chr5:80656408 [GRCh38]
Chr5:79952227 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1295T>G (p.Leu432Trp) single nucleotide variant not provided [RCV000801460] Chr5:80679048 [GRCh38]
Chr5:79974867 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2603A>T (p.Asp868Val) single nucleotide variant not provided [RCV000804994] Chr5:80792792 [GRCh38]
Chr5:80088611 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1568+9T>C single nucleotide variant not provided [RCV000942818] Chr5:80728974 [GRCh38]
Chr5:80024793 [GRCh37]
Chr5:5q14.1
likely benign
NC_000005.10:g.(?_80725443)_(80728975_?)del deletion not provided [RCV000824657] Chr5:80725443..80728975 [GRCh38]
Chr5:80021262..80024794 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.808C>T (p.Leu270Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001027157]|not provided [RCV000812272] Chr5:80672259 [GRCh38]
Chr5:79968078 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1947G>C (p.Lys649Asn) single nucleotide variant not provided [RCV000795853] Chr5:80767983 [GRCh38]
Chr5:80063802 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2936G>C (p.Arg979Thr) single nucleotide variant not provided [RCV000812300] Chr5:80854252 [GRCh38]
Chr5:80150071 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1655C>T (p.Thr552Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001012579]|not provided [RCV000798641] Chr5:80744507 [GRCh38]
Chr5:80040326 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1777C>T (p.Arg593Trp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001013142]|not provided [RCV000801670] Chr5:80761559 [GRCh38]
Chr5:80057378 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.31C>G (p.Leu11Val) single nucleotide variant not provided [RCV000801693] Chr5:80654758 [GRCh38]
Chr5:79950577 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2378A>G (p.Asn793Ser) single nucleotide variant not provided [RCV000796111] Chr5:80778779 [GRCh38]
Chr5:80074598 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1910A>C (p.Glu637Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001013659]|not provided [RCV000815064] Chr5:80767946 [GRCh38]
Chr5:80063765 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2623G>A (p.Asp875Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001016135]|not provided [RCV000798847] Chr5:80792812 [GRCh38]
Chr5:80088631 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.670C>T (p.Arg224Trp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001025561]|not provided [RCV000802046] Chr5:80670187 [GRCh38]
Chr5:79966006 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.824A>G (p.His275Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001027320]|not provided [RCV000805271] Chr5:80672275 [GRCh38]
Chr5:79968094 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1201G>C (p.Val401Leu) single nucleotide variant not provided [RCV000821728] Chr5:80678954 [GRCh38]
Chr5:79974773 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1597G>A (p.Glu533Lys) single nucleotide variant not provided [RCV000805342] Chr5:80741492 [GRCh38]
Chr5:80037311 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2659G>A (p.Asp887Asn) single nucleotide variant not provided [RCV000824602] Chr5:80813587 [GRCh38]
Chr5:80109406 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2777A>T (p.Glu926Val) single nucleotide variant not provided [RCV000794055] Chr5:80813705 [GRCh38]
Chr5:80109524 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.22T>C (p.Ser8Pro) single nucleotide variant not provided [RCV000794081] Chr5:80654749 [GRCh38]
Chr5:79950568 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2128C>T (p.Pro710Ser) single nucleotide variant not provided [RCV000812624] Chr5:80768878 [GRCh38]
Chr5:80064697 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.121A>G (p.Thr41Ala) single nucleotide variant not provided [RCV000798972] Chr5:80654848 [GRCh38]
Chr5:79950667 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.3266A>G (p.Lys1089Arg) single nucleotide variant not provided [RCV000818525] Chr5:80873251 [GRCh38]
Chr5:80169070 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1426T>C (p.Tyr476His) single nucleotide variant not provided [RCV000805507] Chr5:80725538 [GRCh38]
Chr5:80021357 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1102C>G (p.Leu368Val) single nucleotide variant not provided [RCV000810696] Chr5:80675057 [GRCh38]
Chr5:79970876 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.205C>G (p.Pro69Ala) single nucleotide variant not provided [RCV000812751] Chr5:80654932 [GRCh38]
Chr5:79950751 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.257G>C (p.Arg86Thr) single nucleotide variant not provided [RCV000812777] Chr5:80656430 [GRCh38]
Chr5:79952249 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1939C>A (p.His647Asn) single nucleotide variant not provided [RCV000815554] Chr5:80767975 [GRCh38]
Chr5:80063794 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2386C>T (p.Arg796Trp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001015362]|not provided [RCV000822112] Chr5:80778787 [GRCh38]
Chr5:80074606 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.3253A>G (p.Lys1085Glu) single nucleotide variant not provided [RCV000822209] Chr5:80873238 [GRCh38]
Chr5:80169057 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1987A>G (p.Ile663Val) single nucleotide variant not provided [RCV000822210] Chr5:80768023 [GRCh38]
Chr5:80063842 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1877G>A (p.Cys626Tyr) single nucleotide variant not provided [RCV000807459] Chr5:80761659 [GRCh38]
Chr5:80057478 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.20C>T (p.Ala7Val) single nucleotide variant not provided [RCV000796558] Chr5:80654747 [GRCh38]
Chr5:79950566 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.379A>G (p.Thr127Ala) single nucleotide variant not provided [RCV000796698] Chr5:80665163 [GRCh38]
Chr5:79960982 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2876C>G (p.Thr959Arg) single nucleotide variant not provided [RCV000815682] Chr5:80854192 [GRCh38]
Chr5:80150011 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2722C>G (p.Gln908Glu) single nucleotide variant not provided [RCV000815763] Chr5:80813650 [GRCh38]
Chr5:80109469 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2065C>G (p.Leu689Val) single nucleotide variant not provided [RCV000799452] Chr5:80768101 [GRCh38]
Chr5:80063920 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.3335C>T (p.Thr1112Met) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001020019]|not provided [RCV000818993] Chr5:80875783 [GRCh38]
Chr5:80171602 [GRCh37]
Chr5:5q14.1
uncertain significance
NC_000005.10:g.(?_80654718)_(80679103_?)del deletion not provided [RCV000796139] Chr5:80654718..80679103 [GRCh38]
Chr5:79950537..79974922 [GRCh37]
Chr5:5q14.1
pathogenic
NM_002439.5(MSH3):c.1232G>A (p.Arg411His) single nucleotide variant not provided [RCV000802792] Chr5:80678985 [GRCh38]
Chr5:79974804 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2465G>A (p.Cys822Tyr) single nucleotide variant not provided [RCV000802841] Chr5:80787594 [GRCh38]
Chr5:80083413 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1149G>A (p.Lys383=) single nucleotide variant not provided [RCV000939177] Chr5:80675104 [GRCh38]
Chr5:79970923 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.858T>G (p.Pro286=) single nucleotide variant not provided [RCV000978917] Chr5:80672309 [GRCh38]
Chr5:79968128 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.1584A>G (p.Leu528=) single nucleotide variant not provided [RCV000980177] Chr5:80741479 [GRCh38]
Chr5:80037298 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.1454-4C>G single nucleotide variant not provided [RCV000799912] Chr5:80728847 [GRCh38]
Chr5:80024666 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1040del (p.Leu347fs) deletion not provided [RCV000800236] Chr5:80674995 [GRCh38]
Chr5:79970814 [GRCh37]
Chr5:5q14.1
pathogenic
NM_002439.5(MSH3):c.2006G>A (p.Arg669Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001014019]|not provided [RCV000810968] Chr5:80768042 [GRCh38]
Chr5:80063861 [GRCh37]
Chr5:5q14.1
likely benign|uncertain significance
NM_002439.5(MSH3):c.1896A>G (p.Lys632=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001013525]|not provided [RCV000816035] Chr5:80761678 [GRCh38]
Chr5:80057497 [GRCh37]
Chr5:5q14.1
likely benign|uncertain significance
NM_002439.5(MSH3):c.2716A>G (p.Ile906Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001016386]|not provided [RCV000802987] Chr5:80813644 [GRCh38]
Chr5:80109463 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1396A>G (p.Ser466Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001011322]|not provided [RCV000808201] Chr5:80725508 [GRCh38]
Chr5:80021327 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.737C>G (p.Ala246Gly) single nucleotide variant not provided [RCV000791916] Chr5:80670254 [GRCh38]
Chr5:79966073 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1238A>C (p.Glu413Ala) single nucleotide variant not provided [RCV000794698] Chr5:80678991 [GRCh38]
Chr5:79974810 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1A>G (p.Met1Val) single nucleotide variant not provided [RCV000816198] Chr5:80654728 [GRCh38]
Chr5:79950547 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1492C>G (p.Pro498Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001011854]|not provided [RCV000799884] Chr5:80728889 [GRCh38]
Chr5:80024708 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2761T>A (p.Tyr921Asn) single nucleotide variant not provided [RCV000819648] Chr5:80813689 [GRCh38]
Chr5:80109508 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2160A>G (p.Gln720=) single nucleotide variant not provided [RCV000936460] Chr5:80768910 [GRCh38]
Chr5:80064729 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.2318+10A>G single nucleotide variant not provided [RCV000979175] Chr5:80775768 [GRCh38]
Chr5:80071587 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.2141dup (p.Arg715fs) duplication not provided [RCV000804175] Chr5:80768885..80768886 [GRCh38]
Chr5:80064704..80064705 [GRCh37]
Chr5:5q14.1
pathogenic
NM_002439.5(MSH3):c.3290T>C (p.Ile1097Thr) single nucleotide variant not provided [RCV000794732] Chr5:80873275 [GRCh38]
Chr5:80169094 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.131C>G (p.Ala44Gly) single nucleotide variant not provided [RCV000811256] Chr5:80654858 [GRCh38]
Chr5:79950677 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.91A>G (p.Thr31Ala) single nucleotide variant not provided [RCV000813159] Chr5:80654818 [GRCh38]
Chr5:79950637 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2963C>T (p.Ala988Val) single nucleotide variant not provided [RCV000813162] Chr5:80854279 [GRCh38]
Chr5:80150098 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.3404T>G (p.Leu1135Arg) single nucleotide variant not provided [RCV000796880] Chr5:80875852 [GRCh38]
Chr5:80171671 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1789G>A (p.Val597Ile) single nucleotide variant not provided [RCV000813263] Chr5:80761571 [GRCh38]
Chr5:80057390 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2793T>C (p.Ile931=) single nucleotide variant not provided [RCV000977168] Chr5:80813721 [GRCh38]
Chr5:80109540 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.2985G>A (p.Glu995=) single nucleotide variant not provided [RCV000938310] Chr5:80854301 [GRCh38]
Chr5:80150120 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.2115C>T (p.Asp705=) single nucleotide variant not provided [RCV000938315] Chr5:80768865 [GRCh38]
Chr5:80064684 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.1270G>A (p.Val424Ile) single nucleotide variant not provided [RCV000808763] Chr5:80679023 [GRCh38]
Chr5:79974842 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1079T>C (p.Met360Thr) single nucleotide variant not provided [RCV000794892] Chr5:80675034 [GRCh38]
Chr5:79970853 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.883C>T (p.Arg295Cys) single nucleotide variant not provided [RCV000797092] Chr5:80672334 [GRCh38]
Chr5:79968153 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2987A>G (p.Tyr996Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001017798]|not provided [RCV000797093] Chr5:80854303 [GRCh38]
Chr5:80150122 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1234T>A (p.Ser412Thr) single nucleotide variant not provided [RCV000803603] Chr5:80678987 [GRCh38]
Chr5:79974806 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1764-7C>G single nucleotide variant not provided [RCV000941440] Chr5:80761539 [GRCh38]
Chr5:80057358 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.599T>C (p.Leu200Pro) single nucleotide variant not provided [RCV000808856] Chr5:80670116 [GRCh38]
Chr5:79965935 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.3000T>G (p.Asp1000Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001017990]|not provided [RCV000816940] Chr5:80854316 [GRCh38]
Chr5:80150135 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2962G>T (p.Ala988Ser) single nucleotide variant not provided [RCV000803801] Chr5:80854278 [GRCh38]
Chr5:80150097 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2075A>G (p.Gln692Arg) single nucleotide variant not provided [RCV000803830] Chr5:80768111 [GRCh38]
Chr5:80063930 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1764-13_1764-3del deletion not provided [RCV000819169] Chr5:80761531..80761541 [GRCh38]
Chr5:80057350..80057360 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1910A>G (p.Glu637Gly) single nucleotide variant not provided [RCV000795209] Chr5:80767946 [GRCh38]
Chr5:80063765 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1320C>G (p.Ile440Met) single nucleotide variant not provided [RCV000813823] Chr5:80679073 [GRCh38]
Chr5:79974892 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.26G>A (p.Gly9Asp) single nucleotide variant not provided [RCV000797567] Chr5:80654753 [GRCh38]
Chr5:79950572 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1419_1420AG[1] (p.Glu474fs) microsatellite not provided [RCV000817161] Chr5:80725531..80725532 [GRCh38]
Chr5:80021350..80021351 [GRCh37]
Chr5:5q14.1
pathogenic
NM_002439.5(MSH3):c.1834G>A (p.Glu612Lys) single nucleotide variant not provided [RCV000804074] Chr5:80761616 [GRCh38]
Chr5:80057435 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.431C>T (p.Ser144Phe) single nucleotide variant not provided [RCV000804358] Chr5:80665215 [GRCh38]
Chr5:79961034 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.237+7T>G single nucleotide variant not provided [RCV000939198] Chr5:80654971 [GRCh38]
Chr5:79950790 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.237+6T>G single nucleotide variant not provided [RCV000814297] Chr5:80654970 [GRCh38]
Chr5:79950789 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1721G>A (p.Arg574Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001012851]|not provided [RCV000793121] Chr5:80744573 [GRCh38]
Chr5:80040392 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.331_333del (p.Ser111del) deletion Hereditary cancer-predisposing syndrome [RCV001019901]|not provided [RCV000809610] Chr5:80656504..80656506 [GRCh38]
Chr5:79952323..79952325 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.874G>C (p.Val292Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001018274]|not provided [RCV000795398] Chr5:80672325 [GRCh38]
Chr5:79968144 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.711A>G (p.Ile237Met) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001026059]|not provided [RCV000817561] Chr5:80670228 [GRCh38]
Chr5:79966047 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2044G>C (p.Val682Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001014172]|not provided [RCV000817584] Chr5:80768080 [GRCh38]
Chr5:80063899 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1567G>A (p.Glu523Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001012167]|not provided [RCV000961622]|not specified [RCV001001982] Chr5:80728964 [GRCh38]
Chr5:80024783 [GRCh37]
Chr5:5q14.1
benign|likely benign
NM_002439.5(MSH3):c.3370G>A (p.Glu1124Lys) single nucleotide variant not provided [RCV000809831] Chr5:80875818 [GRCh38]
Chr5:80171637 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1935_1936AT[4] (p.His647fs) microsatellite not provided [RCV000793361] Chr5:80767969..80767970 [GRCh38]
Chr5:80063788..80063789 [GRCh37]
Chr5:5q14.1
pathogenic
NM_002439.5(MSH3):c.978_984del (p.Phe326fs) deletion Hereditary cancer-predisposing syndrome [RCV001019740]|not provided [RCV000814604] Chr5:80672809..80672815 [GRCh38]
Chr5:79968628..79968634 [GRCh37]
Chr5:5q14.1
pathogenic
NM_002439.5(MSH3):c.953T>C (p.Ile318Thr) single nucleotide variant not provided [RCV000814662] Chr5:80672784 [GRCh38]
Chr5:79968603 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2850T>A (p.Ser950Arg) single nucleotide variant not provided [RCV000804597] Chr5:80854166 [GRCh38]
Chr5:80149985 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.987A>G (p.Lys329=) single nucleotide variant not provided [RCV000804782] Chr5:80672818 [GRCh38]
Chr5:79968637 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.3072G>C (p.Gln1024His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001018468]|not provided [RCV000824088] Chr5:80864884 [GRCh38]
Chr5:80160703 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.543T>G (p.Val181=) single nucleotide variant not provided [RCV000977094] Chr5:80665327 [GRCh38]
Chr5:79961146 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.3205G>A (p.Gly1069Arg) single nucleotide variant not provided [RCV001060091] Chr5:80873190 [GRCh38]
Chr5:80169009 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.788C>G (p.Ala263Gly) single nucleotide variant not provided [RCV001053988] Chr5:80670305 [GRCh38]
Chr5:79966124 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.3327G>C (p.Lys1109Asn) single nucleotide variant not provided [RCV001054164] Chr5:80875775 [GRCh38]
Chr5:80171594 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2057T>G (p.Leu686Ter) single nucleotide variant not provided [RCV001056529] Chr5:80768093 [GRCh38]
Chr5:80063912 [GRCh37]
Chr5:5q14.1
pathogenic
NM_002439.5(MSH3):c.2347C>G (p.Pro783Ala) single nucleotide variant not provided [RCV001056621] Chr5:80778748 [GRCh38]
Chr5:80074567 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2800G>T (p.Gly934Cys) single nucleotide variant not provided [RCV001057005] Chr5:80813728 [GRCh38]
Chr5:80109547 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.3041T>C (p.Val1014Ala) single nucleotide variant not provided [RCV001057576] Chr5:80864853 [GRCh38]
Chr5:80160672 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2196A>C (p.Glu732Asp) single nucleotide variant not provided [RCV001051972] Chr5:80768946 [GRCh38]
Chr5:80064765 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1203G>T (p.Val401=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001010312]|not provided [RCV000937526] Chr5:80678956 [GRCh38]
Chr5:79974775 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.237+10G>A single nucleotide variant not provided [RCV000937263] Chr5:80654974 [GRCh38]
Chr5:79950793 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.990G>A (p.Leu330=) single nucleotide variant not provided [RCV000936219] Chr5:80672821 [GRCh38]
Chr5:79968640 [GRCh37]
Chr5:5q14.1
likely benign
GRCh37/hg19 5q14.1(chr5:79985830-80348469)x3 copy number gain not provided [RCV000847960] Chr5:79985830..80348469 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.3341A>G (p.His1114Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001020041]|not provided [RCV001060601] Chr5:80875789 [GRCh38]
Chr5:80171608 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.35C>T (p.Ala12Val) single nucleotide variant not provided [RCV001053269] Chr5:80654762 [GRCh38]
Chr5:79950581 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.3236C>T (p.Pro1079Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001019347] Chr5:80873221 [GRCh38]
Chr5:80169040 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1695C>G (p.Asp565Glu) single nucleotide variant not provided [RCV001055890] Chr5:80744547 [GRCh38]
Chr5:80040366 [GRCh37]
Chr5:5q14.1
uncertain significance
GRCh37/hg19 5q13.2-15(chr5:72790061-97478870)x3 copy number gain not provided [RCV001005683] Chr5:72790061..97478870 [GRCh37]
Chr5:5q13.2-15
pathogenic
GRCh37/hg19 5q14.1(chr5:80019759-80167254)x1 copy number loss not provided [RCV001005693] Chr5:80019759..80167254 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2615G>C (p.Gly872Ala) single nucleotide variant not provided [RCV001231518] Chr5:80792804 [GRCh38]
Chr5:80088623 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.682A>G (p.Ile228Val) single nucleotide variant not provided [RCV001248251] Chr5:80670199 [GRCh38]
Chr5:79966018 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1361G>T (p.Arg454Leu) single nucleotide variant not provided [RCV001213516] Chr5:80725473 [GRCh38]
Chr5:80021292 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.234C>G (p.His78Gln) single nucleotide variant not provided [RCV001202809] Chr5:80654961 [GRCh38]
Chr5:79950780 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.3402T>C (p.Ser1134=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001020215] Chr5:80875850 [GRCh38]
Chr5:80171669 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.2288G>A (p.Cys763Tyr) single nucleotide variant not provided [RCV001058617] Chr5:80775728 [GRCh38]
Chr5:80071547 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1861A>C (p.Ile621Leu) single nucleotide variant not provided [RCV001202626] Chr5:80761643 [GRCh38]
Chr5:80057462 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2162G>A (p.Gly721Asp) single nucleotide variant not provided [RCV001202619] Chr5:80768912 [GRCh38]
Chr5:80064731 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.7C>T (p.Arg3Cys) single nucleotide variant not provided [RCV001059419] Chr5:80654734 [GRCh38]
Chr5:79950553 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2086G>A (p.Val696Ile) single nucleotide variant not provided [RCV001060400] Chr5:80768836 [GRCh38]
Chr5:80064655 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.3244A>G (p.Ile1082Val) single nucleotide variant not provided [RCV001246115] Chr5:80873229 [GRCh38]
Chr5:80169048 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.3307A>G (p.Arg1103Gly) single nucleotide variant not provided [RCV001212651] Chr5:80875755 [GRCh38]
Chr5:80171574 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1188_1189insTGT (p.Thr397_Gly398insCys) insertion not provided [RCV001233087] Chr5:80678941..80678942 [GRCh38]
Chr5:79974760..79974761 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.179C>T (p.Ala60Val) single nucleotide variant not provided [RCV001215740] Chr5:80654906 [GRCh38]
Chr5:79950725 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.541G>C (p.Val181Leu) single nucleotide variant not provided [RCV001209109] Chr5:80665325 [GRCh38]
Chr5:79961144 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.3080A>G (p.Asn1027Ser) single nucleotide variant not provided [RCV001205731] Chr5:80864892 [GRCh38]
Chr5:80160711 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.554A>T (p.Asp185Val) single nucleotide variant not provided [RCV001236864] Chr5:80665338 [GRCh38]
Chr5:79961157 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1340+4A>C single nucleotide variant not provided [RCV001238660] Chr5:80679097 [GRCh38]
Chr5:79974916 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.3275A>C (p.Glu1092Ala) single nucleotide variant not provided [RCV001241963] Chr5:80873260 [GRCh38]
Chr5:80169079 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2401C>G (p.Leu801Val) single nucleotide variant not provided [RCV001203137] Chr5:80778802 [GRCh38]
Chr5:80074621 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.142G>A (p.Asp48Asn) single nucleotide variant not provided [RCV001215915] Chr5:80654869 [GRCh38]
Chr5:79950688 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.566A>T (p.Gln189Leu) single nucleotide variant not provided [RCV001216935] Chr5:80665350 [GRCh38]
Chr5:79961169 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1400A>T (p.His467Leu) single nucleotide variant not provided [RCV001237109] Chr5:80725512 [GRCh38]
Chr5:80021331 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.499A>G (p.Thr167Ala) single nucleotide variant not provided [RCV001222110] Chr5:80665283 [GRCh38]
Chr5:79961102 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.925C>T (p.Gln309Ter) single nucleotide variant not provided [RCV001222171] Chr5:80672756 [GRCh38]
Chr5:79968575 [GRCh37]
Chr5:5q14.1
pathogenic
NM_002439.5(MSH3):c.1732A>G (p.Lys578Glu) single nucleotide variant not provided [RCV001240570] Chr5:80744584 [GRCh38]
Chr5:80040403 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.14A>T (p.Lys5Met) single nucleotide variant not provided [RCV001224174] Chr5:80654741 [GRCh38]
Chr5:79950560 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1625dup (p.Leu542fs) duplication not provided [RCV001225828] Chr5:80741518..80741519 [GRCh38]
Chr5:80037337..80037338 [GRCh37]
Chr5:5q14.1
pathogenic
NM_002439.5(MSH3):c.1764-2A>G single nucleotide variant not provided [RCV001225852] Chr5:80761544 [GRCh38]
Chr5:80057363 [GRCh37]
Chr5:5q14.1
likely pathogenic
NM_002439.5(MSH3):c.2504del (p.Phe835fs) deletion not provided [RCV001209323] Chr5:80787630 [GRCh38]
Chr5:80083449 [GRCh37]
Chr5:5q14.1
pathogenic
NM_002439.5(MSH3):c.2186A>G (p.His729Arg) single nucleotide variant not provided [RCV001209442] Chr5:80768936 [GRCh38]
Chr5:80064755 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.754_759delinsATCTATACT (p.Cys252_Gly253delinsIleTyrThr) indel not provided [RCV001239301] Chr5:80670271..80670276 [GRCh38]
Chr5:79966090..79966095 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2813+6T>G single nucleotide variant not provided [RCV001222796] Chr5:80813747 [GRCh38]
Chr5:80109566 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.164C>A (p.Ala55Glu) single nucleotide variant not provided [RCV001239068] Chr5:80654891 [GRCh38]
Chr5:79950710 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1422G>T (p.Glu474Asp) single nucleotide variant not provided [RCV001224252] Chr5:80725534 [GRCh38]
Chr5:80021353 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.720GCA[1] (p.Gln241_Gln242del) microsatellite not provided [RCV001242708] Chr5:80670236..80670241 [GRCh38]
Chr5:79966055..79966060 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2521G>A (p.Ala841Thr) single nucleotide variant not provided [RCV001205166] Chr5:80787650 [GRCh38]
Chr5:80083469 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.3148C>T (p.Pro1050Ser) single nucleotide variant not provided [RCV001234396] Chr5:80873133 [GRCh38]
Chr5:80168952 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1967T>A (p.Ile656Lys) single nucleotide variant not provided [RCV001222870] Chr5:80768003 [GRCh38]
Chr5:80063822 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2454T>A (p.Tyr818Ter) single nucleotide variant not provided [RCV001239556] Chr5:80787583 [GRCh38]
Chr5:80083402 [GRCh37]
Chr5:5q14.1
pathogenic
NM_002439.5(MSH3):c.1554_1558delinsCCTA (p.Met518fs) indel not provided [RCV001239165] Chr5:80728951..80728955 [GRCh38]
Chr5:80024770..80024774 [GRCh37]
Chr5:5q14.1
pathogenic
NM_002439.5(MSH3):c.3091G>C (p.Gly1031Arg) single nucleotide variant not provided [RCV001234577] Chr5:80864903 [GRCh38]
Chr5:80160722 [GRCh37]
Chr5:5q14.1
uncertain significance
GRCh37/hg19 5q14.1(chr5:79664621-80767791)x3 copy number gain not provided [RCV000845611] Chr5:79664621..80767791 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.575A>G (p.Gln192Arg) single nucleotide variant not provided [RCV001237252] Chr5:80665359 [GRCh38]
Chr5:79961178 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.3265A>T (p.Lys1089Ter) single nucleotide variant not provided [RCV001223062] Chr5:80873250 [GRCh38]
Chr5:80169069 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1856C>A (p.Pro619His) single nucleotide variant not provided [RCV001223091] Chr5:80761638 [GRCh38]
Chr5:80057457 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1121A>G (p.Asn374Ser) single nucleotide variant not provided [RCV001239692] Chr5:80675076 [GRCh38]
Chr5:79970895 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1114T>G (p.Ser372Ala) single nucleotide variant not provided [RCV001224650] Chr5:80675069 [GRCh38]
Chr5:79970888 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1714G>A (p.Gly572Arg) single nucleotide variant not provided [RCV001203546] Chr5:80744566 [GRCh38]
Chr5:80040385 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.490C>T (p.Pro164Ser) single nucleotide variant not provided [RCV001209221] Chr5:80665274 [GRCh38]
Chr5:79961093 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.237+3A>C single nucleotide variant not provided [RCV001234712] Chr5:80654967 [GRCh38]
Chr5:79950786 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.292A>T (p.Lys98Ter) single nucleotide variant not provided [RCV001234759] Chr5:80656465 [GRCh38]
Chr5:79952284 [GRCh37]
Chr5:5q14.1
pathogenic
NM_002439.5(MSH3):c.1765G>A (p.Glu589Lys) single nucleotide variant not provided [RCV001223244] Chr5:80761547 [GRCh38]
Chr5:80057366 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1819G>A (p.Val607Met) single nucleotide variant not provided [RCV001223360] Chr5:80761601 [GRCh38]
Chr5:80057420 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.3303-3C>T single nucleotide variant not provided [RCV001221012] Chr5:80875748 [GRCh38]
Chr5:80171567 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.527A>T (p.His176Leu) single nucleotide variant not provided [RCV001226912] Chr5:80665311 [GRCh38]
Chr5:79961130 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1128A>C (p.Glu376Asp) single nucleotide variant not provided [RCV001225083] Chr5:80675083 [GRCh38]
Chr5:79970902 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.139G>A (p.Val47Met) single nucleotide variant not provided [RCV001241431] Chr5:80654866 [GRCh38]
Chr5:79950685 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.3271A>G (p.Lys1091Glu) single nucleotide variant not provided [RCV001214539] Chr5:80873256 [GRCh38]
Chr5:80169075 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1409A>G (p.Gln470Arg) single nucleotide variant not provided [RCV001206940] Chr5:80725521 [GRCh38]
Chr5:80021340 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2589G>C (p.Arg863Ser) single nucleotide variant not provided [RCV001235265] Chr5:80792778 [GRCh38]
Chr5:80088597 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1300G>A (p.Glu434Lys) single nucleotide variant not provided [RCV001209995] Chr5:80679053 [GRCh38]
Chr5:79974872 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1193G>A (p.Gly398Asp) single nucleotide variant not provided [RCV001243459] Chr5:80678946 [GRCh38]
Chr5:79974765 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.238-3T>A single nucleotide variant not provided [RCV001232083] Chr5:80656408 [GRCh38]
Chr5:79952227 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2857A>G (p.Met953Val) single nucleotide variant not provided [RCV001218346] Chr5:80854173 [GRCh38]
Chr5:80149992 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1793C>G (p.Ser598Trp) single nucleotide variant not provided [RCV001238383] Chr5:80761575 [GRCh38]
Chr5:80057394 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1804C>T (p.His602Tyr) single nucleotide variant not provided [RCV001210170] Chr5:80761586 [GRCh38]
Chr5:80057405 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.238-4A>G single nucleotide variant not provided [RCV001223299] Chr5:80656407 [GRCh38]
Chr5:79952226 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.593T>G (p.Phe198Cys) single nucleotide variant not provided [RCV001226416] Chr5:80670110 [GRCh38]
Chr5:79965929 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1085A>C (p.Asp362Ala) single nucleotide variant not provided [RCV001214851] Chr5:80675040 [GRCh38]
Chr5:79970859 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2577A>G (p.Ile859Met) single nucleotide variant not provided [RCV001218578] Chr5:80792766 [GRCh38]
Chr5:80088585 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2674A>G (p.Met892Val) single nucleotide variant not provided [RCV001052256] Chr5:80813602 [GRCh38]
Chr5:80109421 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2656-3C>T single nucleotide variant not provided [RCV001052909] Chr5:80813581 [GRCh38]
Chr5:80109400 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1358T>A (p.Ile453Asn) single nucleotide variant not provided [RCV001224432] Chr5:80725470 [GRCh38]
Chr5:80021289 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2785A>T (p.Ile929Phe) single nucleotide variant not provided [RCV001239931] Chr5:80813713 [GRCh38]
Chr5:80109532 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2127C>A (p.Phe709Leu) single nucleotide variant not provided [RCV001225465] Chr5:80768877 [GRCh38]
Chr5:80064696 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2813+8C>A single nucleotide variant not provided [RCV001242683] Chr5:80813749 [GRCh38]
Chr5:80109568 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.905A>G (p.Tyr302Cys) single nucleotide variant not provided [RCV001226564] Chr5:80672356 [GRCh38]
Chr5:79968175 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2746G>T (p.Ala916Ser) single nucleotide variant not provided [RCV001242804] Chr5:80813674 [GRCh38]
Chr5:80109493 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.211_230dup (p.His78fs) duplication not provided [RCV001214981] Chr5:80654932..80654933 [GRCh38]
Chr5:79950751..79950752 [GRCh37]
Chr5:5q14.1
pathogenic
NM_002439.5(MSH3):c.26G>T (p.Gly9Val) single nucleotide variant not provided [RCV001210126] Chr5:80654753 [GRCh38]
Chr5:79950572 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1493C>G (p.Pro498Arg) single nucleotide variant not provided [RCV001211759] Chr5:80728890 [GRCh38]
Chr5:80024709 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.491C>T (p.Pro164Leu) single nucleotide variant not provided [RCV001225557] Chr5:80665275 [GRCh38]
Chr5:79961094 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2530G>A (p.Gly844Arg) single nucleotide variant not provided [RCV001238640] Chr5:80787659 [GRCh38]
Chr5:80083478 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2654C>T (p.Ser885Leu) single nucleotide variant not provided [RCV001218784] Chr5:80792843 [GRCh38]
Chr5:80088662 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1078A>G (p.Met360Val) single nucleotide variant not provided [RCV001212381] Chr5:80675033 [GRCh38]
Chr5:79970852 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2969C>T (p.Ala990Val) single nucleotide variant not provided [RCV001241815] Chr5:80854285 [GRCh38]
Chr5:80150104 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1297T>C (p.Ser433Pro) single nucleotide variant not provided [RCV001225597] Chr5:80679050 [GRCh38]
Chr5:79974869 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1403C>G (p.Ala468Gly) single nucleotide variant not provided [RCV001225634] Chr5:80725515 [GRCh38]
Chr5:80021334 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1897-7T>G single nucleotide variant not provided [RCV001221959] Chr5:80767926 [GRCh38]
Chr5:80063745 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1340+1G>C single nucleotide variant not provided [RCV001211822] Chr5:80679094 [GRCh38]
Chr5:79974913 [GRCh37]
Chr5:5q14.1
likely pathogenic
NM_002439.5(MSH3):c.3384G>A (p.Met1128Ile) single nucleotide variant not provided [RCV001247183] Chr5:80875832 [GRCh38]
Chr5:80171651 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.200C>G (p.Pro67Arg) single nucleotide variant not provided [RCV001233847] Chr5:80654927 [GRCh38]
Chr5:79950746 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.298A>T (p.Lys100Ter) single nucleotide variant not provided [RCV001219252] Chr5:80656471 [GRCh38]
Chr5:79952290 [GRCh37]
Chr5:5q14.1
pathogenic
NM_002439.5(MSH3):c.1667C>T (p.Thr556Ile) single nucleotide variant not provided [RCV001226246] Chr5:80744519 [GRCh38]
Chr5:80040338 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.148G>A (p.Gly50Ser) single nucleotide variant not provided [RCV001233716] Chr5:80654875 [GRCh38]
Chr5:79950694 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.3166C>A (p.Leu1056Ile) single nucleotide variant not provided [RCV001228492] Chr5:80873151 [GRCh38]
Chr5:80168970 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2236A>G (p.Thr746Ala) single nucleotide variant not provided [RCV001212650] Chr5:80768986 [GRCh38]
Chr5:80064805 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2092G>A (p.Asp698Asn) single nucleotide variant not provided [RCV001201436] Chr5:80768842 [GRCh38]
Chr5:80064661 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.887G>T (p.Arg296Leu) single nucleotide variant not provided [RCV001052680] Chr5:80672338 [GRCh38]
Chr5:79968157 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.257del (p.Arg86fs) deletion not provided [RCV001061350] Chr5:80656430 [GRCh38]
Chr5:79952249 [GRCh37]
Chr5:5q14.1
pathogenic
NM_002439.5(MSH3):c.817T>A (p.Tyr273Asn) single nucleotide variant not provided [RCV001062271] Chr5:80672268 [GRCh38]
Chr5:79968087 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2777A>C (p.Glu926Ala) single nucleotide variant not provided [RCV001212484] Chr5:80813705 [GRCh38]
Chr5:80109524 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2221T>A (p.Ser741Thr) single nucleotide variant not provided [RCV001230414] Chr5:80768971 [GRCh38]
Chr5:80064790 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.3303-10T>G single nucleotide variant not provided [RCV000982727] Chr5:80875741 [GRCh38]
Chr5:80171560 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.81C>T (p.Phe27=) single nucleotide variant not provided [RCV000944324] Chr5:80654808 [GRCh38]
Chr5:79950627 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.181G>C (p.Ala61Pro) single nucleotide variant not provided [RCV000899922] Chr5:80654908 [GRCh38]
Chr5:79950727 [GRCh37]
Chr5:5q14.1
benign
NM_002439.5(MSH3):c.2172C>T (p.Asp724=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001014670]|not provided [RCV000918750] Chr5:80768922 [GRCh38]
Chr5:80064741 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.2253+9A>C single nucleotide variant not provided [RCV000979772] Chr5:80769012 [GRCh38]
Chr5:80064831 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.1897-6T>C single nucleotide variant not provided [RCV000931578] Chr5:80767927 [GRCh38]
Chr5:80063746 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.114C>G (p.Ser38=) single nucleotide variant not provided [RCV000936466] Chr5:80654841 [GRCh38]
Chr5:79950660 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.21G>A (p.Ala7=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001014749]|not provided [RCV000958800] Chr5:80654748 [GRCh38]
Chr5:79950567 [GRCh37]
Chr5:5q14.1
benign|likely benign
NM_002439.5(MSH3):c.162T>C (p.Ala54=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001012494]|not provided [RCV000958815] Chr5:80654889 [GRCh38]
Chr5:79950708 [GRCh37]
Chr5:5q14.1
benign
NM_002439.5(MSH3):c.186_194GCCCCCAGC[5] (p.64_66PAP[5]) microsatellite not provided [RCV000958816] Chr5:80654908..80654909 [GRCh38]
Chr5:79950727..79950728 [GRCh37]
Chr5:5q14.1
benign
NM_002439.5(MSH3):c.1320C>A (p.Ile440=) single nucleotide variant not provided [RCV000940268] Chr5:80679073 [GRCh38]
Chr5:79974892 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.2511G>A (p.Leu837=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001015775]|not provided [RCV000961623] Chr5:80787640 [GRCh38]
Chr5:80083459 [GRCh37]
Chr5:5q14.1
benign|likely benign
NM_002439.5(MSH3):c.3282A>G (p.Glu1094=) single nucleotide variant not provided [RCV000944626] Chr5:80873267 [GRCh38]
Chr5:80169086 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.1743C>T (p.Thr581=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001012982]|not provided [RCV000941167] Chr5:80744595 [GRCh38]
Chr5:80040414 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.2691A>C (p.Pro897=) single nucleotide variant not provided [RCV000979733] Chr5:80813619 [GRCh38]
Chr5:80109438 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.135C>T (p.Asp45=) single nucleotide variant not provided [RCV000944970] Chr5:80654862 [GRCh38]
Chr5:79950681 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.69T>C (p.Val23=) single nucleotide variant not provided [RCV000975281] Chr5:80654796 [GRCh38]
Chr5:79950615 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.2084+9C>T single nucleotide variant not provided [RCV000936672] Chr5:80768129 [GRCh38]
Chr5:80063948 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.1313C>T (p.Ala438Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001010918]|not provided [RCV000974203] Chr5:80679066 [GRCh38]
Chr5:79974885 [GRCh37]
Chr5:5q14.1
likely benign|uncertain significance
NM_002439.5(MSH3):c.1794G>T (p.Ser598=) single nucleotide variant not provided [RCV000945217] Chr5:80761576 [GRCh38]
Chr5:80057395 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.2952T>C (p.His984=) single nucleotide variant not provided [RCV000945224] Chr5:80854268 [GRCh38]
Chr5:80150087 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.1177G>A (p.Val393Met) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001010146]|not provided [RCV000936767] Chr5:80678930 [GRCh38]
Chr5:79974749 [GRCh37]
Chr5:5q14.1
likely benign|uncertain significance
NM_002439.5(MSH3):c.672G>T (p.Arg224=) single nucleotide variant not provided [RCV000936806] Chr5:80670189 [GRCh38]
Chr5:79966008 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.2520C>T (p.Val840=) single nucleotide variant not provided [RCV000894332] Chr5:80787649 [GRCh38]
Chr5:80083468 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.2964C>T (p.Ala988=) single nucleotide variant not provided [RCV000938907] Chr5:80854280 [GRCh38]
Chr5:80150099 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.2374C>T (p.Leu792=) single nucleotide variant not provided [RCV000941148] Chr5:80778775 [GRCh38]
Chr5:80074594 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.2709C>T (p.Ser903=) single nucleotide variant not provided [RCV000975721] Chr5:80813637 [GRCh38]
Chr5:80109456 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.237+8C>T single nucleotide variant not provided [RCV000975769] Chr5:80654972 [GRCh38]
Chr5:79950791 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.1469C>A (p.Ser490Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001011727]|not provided [RCV000919708] Chr5:80728866 [GRCh38]
Chr5:80024685 [GRCh37]
Chr5:5q14.1
benign|likely benign
NM_002439.5(MSH3):c.2976T>A (p.Ala992=) single nucleotide variant not provided [RCV000931140] Chr5:80854292 [GRCh38]
Chr5:80150111 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.2940G>A (p.Gly980=) single nucleotide variant not provided [RCV000941940] Chr5:80854256 [GRCh38]
Chr5:80150075 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.2611C>T (p.Leu871=) single nucleotide variant not provided [RCV000941316] Chr5:80792800 [GRCh38]
Chr5:80088619 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.132C>G (p.Ala44=) single nucleotide variant not provided [RCV000928426] Chr5:80654859 [GRCh38]
Chr5:79950678 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.2005C>T (p.Arg669Trp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001014041]|not provided [RCV000909365] Chr5:80768041 [GRCh38]
Chr5:80063860 [GRCh37]
Chr5:5q14.1
likely benign|uncertain significance
NM_002439.5(MSH3):c.909+7T>G single nucleotide variant not provided [RCV000942045] Chr5:80672367 [GRCh38]
Chr5:79968186 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.2403T>G (p.Leu801=) single nucleotide variant not provided [RCV000975652] Chr5:80778804 [GRCh38]
Chr5:80074623 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.24G>A (p.Ser8=) single nucleotide variant not provided [RCV000928467] Chr5:80654751 [GRCh38]
Chr5:79950570 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.615A>T (p.Ser205=) single nucleotide variant not provided [RCV000941573] Chr5:80670132 [GRCh38]
Chr5:79965951 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.234_235inv (p.Ile79Val) inversion not provided [RCV000937401] Chr5:80654961..80654962 [GRCh38]
Chr5:79950780..79950781 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.3315G>A (p.Lys1105=) single nucleotide variant not provided [RCV000932010] Chr5:80875763 [GRCh38]
Chr5:80171582 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.2892A>G (p.Arg964=) single nucleotide variant not provided [RCV000976346] Chr5:80854208 [GRCh38]
Chr5:80150027 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.3009C>T (p.Ser1003=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001018017]|not provided [RCV000938274] Chr5:80864821 [GRCh38]
Chr5:80160640 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.2509C>T (p.Leu837=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001015767]|not provided [RCV000942459] Chr5:80787638 [GRCh38]
Chr5:80083457 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.2853A>G (p.Thr951=) single nucleotide variant not provided [RCV000982822] Chr5:80854169 [GRCh38]
Chr5:80149988 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.207C>T (p.Pro69=) single nucleotide variant not provided [RCV000943768] Chr5:80654934 [GRCh38]
Chr5:79950753 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.1039C>T (p.Leu347=) single nucleotide variant not provided [RCV000938465] Chr5:80674994 [GRCh38]
Chr5:79970813 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.3345T>C (p.Asn1115=) single nucleotide variant not provided [RCV000940235] Chr5:80875793 [GRCh38]
Chr5:80171612 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.3330A>G (p.Leu1110=) single nucleotide variant not provided [RCV000940262] Chr5:80875778 [GRCh38]
Chr5:80171597 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.192A>C (p.Pro64=) single nucleotide variant not provided [RCV000981550] Chr5:80654919 [GRCh38]
Chr5:79950738 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.3258A>G (p.Ala1086=) single nucleotide variant not provided [RCV000932914] Chr5:80873243 [GRCh38]
Chr5:80169062 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.1101T>C (p.Tyr367=) single nucleotide variant not provided [RCV000938651] Chr5:80675056 [GRCh38]
Chr5:79970875 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.1044C>A (p.Ile348=) single nucleotide variant not provided [RCV000931443] Chr5:80674999 [GRCh38]
Chr5:79970818 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.150C>A (p.Gly50=) single nucleotide variant not provided [RCV000981915] Chr5:80654877 [GRCh38]
Chr5:79950696 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.1764-9_1764-8del deletion not provided [RCV000951259] Chr5:80761535..80761536 [GRCh38]
Chr5:80057354..80057355 [GRCh37]
Chr5:5q14.1
benign
NM_002439.5(MSH3):c.57G>A (p.Ala19=) single nucleotide variant not provided [RCV000938901] Chr5:80654784 [GRCh38]
Chr5:79950603 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.2280T>C (p.Ala760=) single nucleotide variant not provided [RCV000979534] Chr5:80775720 [GRCh38]
Chr5:80071539 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.1299C>T (p.Ser433=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001010586]|not provided [RCV000932260] Chr5:80679052 [GRCh38]
Chr5:79974871 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.1123A>T (p.Lys375Ter) single nucleotide variant not provided [RCV001207162] Chr5:80675078 [GRCh38]
Chr5:79970897 [GRCh37]
Chr5:5q14.1
pathogenic
NM_002439.5(MSH3):c.3325A>G (p.Lys1109Glu) single nucleotide variant not provided [RCV001207243] Chr5:80875773 [GRCh38]
Chr5:80171592 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1211G>A (p.Ser404Asn) single nucleotide variant not provided [RCV001207287] Chr5:80678964 [GRCh38]
Chr5:79974783 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2559A>C (p.Glu853Asp) single nucleotide variant not provided [RCV001242056] Chr5:80792748 [GRCh38]
Chr5:80088567 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.3115A>C (p.Ser1039Arg) single nucleotide variant not provided [RCV001214305] Chr5:80864927 [GRCh38]
Chr5:80160746 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1163T>C (p.Ile388Thr) single nucleotide variant not provided [RCV001207456] Chr5:80675118 [GRCh38]
Chr5:79970937 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2318+5del deletion not provided [RCV001207465] Chr5:80775762 [GRCh38]
Chr5:80071581 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.302_306del (p.Val101fs) deletion not provided [RCV001222156] Chr5:80656471..80656475 [GRCh38]
Chr5:79952290..79952294 [GRCh37]
Chr5:5q14.1
pathogenic
NM_002439.5(MSH3):c.8G>A (p.Arg3His) single nucleotide variant not provided [RCV001244351] Chr5:80654735 [GRCh38]
Chr5:79950554 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2164G>A (p.Val722Ile) single nucleotide variant not provided [RCV001244401] Chr5:80768914 [GRCh38]
Chr5:80064733 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.161C>G (p.Ala54Gly) single nucleotide variant not provided [RCV001230082] Chr5:80654888 [GRCh38]
Chr5:79950707 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.237+5G>A single nucleotide variant not provided [RCV001231798] Chr5:80654969 [GRCh38]
Chr5:79950788 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2056T>G (p.Leu686Val) single nucleotide variant not provided [RCV001068110] Chr5:80768092 [GRCh38]
Chr5:80063911 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2436-7T>A single nucleotide variant not provided [RCV001239230] Chr5:80787558 [GRCh38]
Chr5:80083377 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.979T>A (p.Ser327Thr) single nucleotide variant not provided [RCV001242427] Chr5:80672810 [GRCh38]
Chr5:79968629 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2796G>A (p.Val932=) single nucleotide variant not provided [RCV001226343] Chr5:80813724 [GRCh38]
Chr5:80109543 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.172G>A (p.Ala58Thr) single nucleotide variant not provided [RCV001212671] Chr5:80654899 [GRCh38]
Chr5:79950718 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1405T>C (p.Phe469Leu) single nucleotide variant not provided [RCV001226550] Chr5:80725517 [GRCh38]
Chr5:80021336 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1453+1G>A single nucleotide variant not provided [RCV001244677] Chr5:80725566 [GRCh38]
Chr5:80021385 [GRCh37]
Chr5:5q14.1
likely pathogenic
NM_002439.5(MSH3):c.1762A>C (p.Arg588=) single nucleotide variant not provided [RCV001207895] Chr5:80744614 [GRCh38]
Chr5:80040433 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.436C>T (p.Leu146Phe) single nucleotide variant not provided [RCV001236349] Chr5:80665220 [GRCh38]
Chr5:79961039 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1894_1896delinsT (p.Lys632fs) indel not provided [RCV001239296] Chr5:80761676..80761678 [GRCh38]
Chr5:80057495..80057497 [GRCh37]
Chr5:5q14.1
pathogenic
NM_002439.5(MSH3):c.2660A>G (p.Asp887Gly) single nucleotide variant not provided [RCV001222708] Chr5:80813588 [GRCh38]
Chr5:80109407 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.253A>T (p.Arg85Ter) single nucleotide variant not provided [RCV001222817] Chr5:80656426 [GRCh38]
Chr5:79952245 [GRCh37]
Chr5:5q14.1
pathogenic
NM_002439.5(MSH3):c.1541A>G (p.Asn514Ser) single nucleotide variant not provided [RCV001243014] Chr5:80728938 [GRCh38]
Chr5:80024757 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2767C>G (p.Pro923Ala) single nucleotide variant not provided [RCV001203598] Chr5:80813695 [GRCh38]
Chr5:80109514 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.3379A>G (p.Asn1127Asp) single nucleotide variant not provided [RCV001208169] Chr5:80875827 [GRCh38]
Chr5:80171646 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2275T>G (p.Ser759Ala) single nucleotide variant not provided [RCV001239580] Chr5:80775715 [GRCh38]
Chr5:80071534 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1341-2A>G single nucleotide variant not provided [RCV001227144] Chr5:80725451 [GRCh38]
Chr5:80021270 [GRCh37]
Chr5:5q14.1
likely pathogenic
NM_002439.5(MSH3):c.579+3_579+4dup duplication not provided [RCV001070155] Chr5:80665364..80665365 [GRCh38]
Chr5:79961183..79961184 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1786G>C (p.Ala596Pro) single nucleotide variant not provided [RCV001248510] Chr5:80761568 [GRCh38]
Chr5:80057387 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2699G>A (p.Gly900Asp) single nucleotide variant not provided [RCV001205584] Chr5:80813627 [GRCh38]
Chr5:80109446 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.256_259AGAA[1] (p.Lys87fs) microsatellite not provided [RCV001071416] Chr5:80656428..80656431 [GRCh38]
Chr5:79952247..79952250 [GRCh37]
Chr5:5q14.1
pathogenic
NM_002439.5(MSH3):c.1454-6T>A single nucleotide variant not provided [RCV001071423] Chr5:80728845 [GRCh38]
Chr5:80024664 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.595del (p.Asp199fs) deletion not provided [RCV001243592] Chr5:80670112 [GRCh38]
Chr5:79965931 [GRCh37]
Chr5:5q14.1
pathogenic
NM_002439.5(MSH3):c.1874del (p.Leu625fs) deletion not provided [RCV001227531] Chr5:80761656 [GRCh38]
Chr5:80057475 [GRCh37]
Chr5:5q14.1
pathogenic
NM_002439.5(MSH3):c.579+4T>C single nucleotide variant not provided [RCV001245448] Chr5:80665367 [GRCh38]
Chr5:79961186 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.49G>A (p.Ala17Thr) single nucleotide variant not provided [RCV001220271] Chr5:80654776 [GRCh38]
Chr5:79950595 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.3073G>T (p.Val1025Leu) single nucleotide variant not provided [RCV001227703] Chr5:80864885 [GRCh38]
Chr5:80160704 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1341-6T>G single nucleotide variant not provided [RCV001053808] Chr5:80725447 [GRCh38]
Chr5:80021266 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1982C>T (p.Ser661Phe) single nucleotide variant not provided [RCV001054562] Chr5:80768018 [GRCh38]
Chr5:80063837 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2194G>A (p.Glu732Lys) single nucleotide variant not provided [RCV001220355] Chr5:80768944 [GRCh38]
Chr5:80064763 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.34G>T (p.Ala12Ser) single nucleotide variant not provided [RCV001240520] Chr5:80654761 [GRCh38]
Chr5:79950580 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.10C>T (p.Arg4Trp) single nucleotide variant not provided [RCV001245568] Chr5:80654737 [GRCh38]
Chr5:79950556 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2711C>A (p.Ser904Tyr) single nucleotide variant not provided [RCV001053219] Chr5:80813639 [GRCh38]
Chr5:80109458 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1895_1896delinsT (p.Lys632fs) indel not provided [RCV001248736] Chr5:80761677..80761678 [GRCh38]
Chr5:80057496..80057497 [GRCh37]
Chr5:5q14.1
pathogenic
NM_002439.5(MSH3):c.3265A>C (p.Lys1089Gln) single nucleotide variant not provided [RCV001062984] Chr5:80873250 [GRCh38]
Chr5:80169069 [GRCh37]
Chr5:5q14.1
uncertain significance
NC_000005.10:g.(?_80654049)_(80679103_?)dup duplication not provided [RCV001031425] Chr5:79949868..79974922 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2389G>T (p.Glu797Ter) single nucleotide variant not provided [RCV001220539] Chr5:80778790 [GRCh38]
Chr5:80074609 [GRCh37]
Chr5:5q14.1
pathogenic
NM_002439.5(MSH3):c.2672T>C (p.Val891Ala) single nucleotide variant not provided [RCV001209244] Chr5:80813600 [GRCh38]
Chr5:80109419 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1136G>A (p.Arg379Lys) single nucleotide variant not provided [RCV001209262] Chr5:80675091 [GRCh38]
Chr5:79970910 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2422C>T (p.Leu808Phe) single nucleotide variant not provided [RCV001224265] Chr5:80778823 [GRCh38]
Chr5:80074642 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.191C>A (p.Pro64Gln) single nucleotide variant not provided [RCV001224302] Chr5:80654918 [GRCh38]
Chr5:79950737 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2710T>C (p.Ser904Pro) single nucleotide variant not provided [RCV001224344] Chr5:80813638 [GRCh38]
Chr5:80109457 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.506T>C (p.Phe169Ser) single nucleotide variant not provided [RCV001227849] Chr5:80665290 [GRCh38]
Chr5:79961109 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1731G>C (p.Lys577Asn) single nucleotide variant not provided [RCV001056406] Chr5:80744583 [GRCh38]
Chr5:80040402 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2887del (p.Ile963fs) deletion not provided [RCV001237710] Chr5:80854202 [GRCh38]
Chr5:80150021 [GRCh37]
Chr5:5q14.1
pathogenic
NM_002439.5(MSH3):c.1018A>G (p.Ile340Val) single nucleotide variant not provided [RCV001220882] Chr5:80672849 [GRCh38]
Chr5:79968668 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2012T>C (p.Val671Ala) single nucleotide variant not provided [RCV001240862] Chr5:80768048 [GRCh38]
Chr5:80063867 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1296del (p.Leu432fs) deletion not provided [RCV001224552] Chr5:80679049 [GRCh38]
Chr5:79974868 [GRCh37]
Chr5:5q14.1
pathogenic
NM_002439.5(MSH3):c.326G>A (p.Gly109Glu) single nucleotide variant not provided [RCV001221017] Chr5:80656499 [GRCh38]
Chr5:79952318 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2117T>C (p.Leu706Pro) single nucleotide variant not provided [RCV001221047] Chr5:80768867 [GRCh38]
Chr5:80064686 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2076A>G (p.Gln692=) single nucleotide variant not provided [RCV001237776] Chr5:80768112 [GRCh38]
Chr5:80063931 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.235A>T (p.Ile79Leu) single nucleotide variant not provided [RCV001224842] Chr5:80654962 [GRCh38]
Chr5:79950781 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1214T>A (p.Phe405Tyr) single nucleotide variant not provided [RCV001224881] Chr5:80678967 [GRCh38]
Chr5:79974786 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.479T>A (p.Phe160Tyr) single nucleotide variant not provided [RCV001058535] Chr5:80665263 [GRCh38]
Chr5:79961082 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1307C>T (p.Thr436Ile) single nucleotide variant not provided [RCV001064618] Chr5:80679060 [GRCh38]
Chr5:79974879 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2212A>G (p.Lys738Glu) single nucleotide variant not provided [RCV001064982] Chr5:80768962 [GRCh38]
Chr5:80064781 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2756G>T (p.Gly919Val) single nucleotide variant not provided [RCV001206461] Chr5:80813684 [GRCh38]
Chr5:80109503 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2294C>G (p.Pro765Arg) single nucleotide variant not provided [RCV001217666] Chr5:80775734 [GRCh38]
Chr5:80071553 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.98G>A (p.Ser33Asn) single nucleotide variant not provided [RCV001209776] Chr5:80654825 [GRCh38]
Chr5:79950644 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1094C>T (p.Thr365Ile) single nucleotide variant not provided [RCV001209899] Chr5:80675049 [GRCh38]
Chr5:79970868 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2446G>A (p.Glu816Lys) single nucleotide variant not provided [RCV001066056] Chr5:80787575 [GRCh38]
Chr5:80083394 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1250G>A (p.Arg417Gln) single nucleotide variant not provided [RCV001066112] Chr5:80679003 [GRCh38]
Chr5:79974822 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.803G>A (p.Arg268Gln) single nucleotide variant not provided [RCV001066174] Chr5:80672254 [GRCh38]
Chr5:79968073 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1569-3C>T single nucleotide variant not provided [RCV001210148] Chr5:80741461 [GRCh38]
Chr5:80037280 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.238-1G>A single nucleotide variant not provided [RCV001212021] Chr5:80656410 [GRCh38]
Chr5:79952229 [GRCh37]
Chr5:5q14.1
likely pathogenic
NM_002439.5(MSH3):c.1607C>T (p.Thr536Ile) single nucleotide variant not provided [RCV001218273] Chr5:80741502 [GRCh38]
Chr5:80037321 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.14del (p.Lys5fs) deletion not provided [RCV001210285] Chr5:80654740 [GRCh38]
Chr5:79950559 [GRCh37]
Chr5:5q14.1
pathogenic
NM_002439.5(MSH3):c.3088A>G (p.Met1030Val) single nucleotide variant not provided [RCV001241707] Chr5:80864900 [GRCh38]
Chr5:80160719 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.832C>G (p.His278Asp) single nucleotide variant not provided [RCV001241776] Chr5:80672283 [GRCh38]
Chr5:79968102 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.983G>A (p.Arg328Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001019799]|not provided [RCV001066429] Chr5:80672814 [GRCh38]
Chr5:79968633 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.3302+3C>T single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001019815] Chr5:80873290 [GRCh38]
Chr5:80169109 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2328T>A (p.Ala776=) single nucleotide variant not provided [RCV000935583] Chr5:80778729 [GRCh38]
Chr5:80074548 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.522T>A (p.Leu174=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001023770]|not provided [RCV000935586] Chr5:80665306 [GRCh38]
Chr5:79961125 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.1763+8G>A single nucleotide variant not provided [RCV000935613] Chr5:80744623 [GRCh38]
Chr5:80040442 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.3369A>G (p.Thr1123=) single nucleotide variant not provided [RCV000935524] Chr5:80875817 [GRCh38]
Chr5:80171636 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.2322A>C (p.Thr774=) single nucleotide variant not provided [RCV000934554] Chr5:80778723 [GRCh38]
Chr5:80074542 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.1794G>A (p.Ser598=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001013111]|not provided [RCV000891202] Chr5:80761576 [GRCh38]
Chr5:80057395 [GRCh37]
Chr5:5q14.1
benign|likely benign
NM_002439.5(MSH3):c.2925T>C (p.Asp975=) single nucleotide variant not provided [RCV000933597] Chr5:80854241 [GRCh38]
Chr5:80150060 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.169_177GCCGCAGCG[3] (p.Ala60_Ala62dup) microsatellite not provided [RCV000891396] Chr5:80654889..80654890 [GRCh38]
Chr5:79950708..79950709 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.793-3del deletion not provided [RCV000935892] Chr5:80672236 [GRCh38]
Chr5:79968055 [GRCh37]
Chr5:5q14.1
benign
NM_002439.5(MSH3):c.2370A>G (p.Arg790=) single nucleotide variant not provided [RCV000934884] Chr5:80778771 [GRCh38]
Chr5:80074590 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.2085-7T>G single nucleotide variant not provided [RCV000933859] Chr5:80768828 [GRCh38]
Chr5:80064647 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.2813+9G>A single nucleotide variant not provided [RCV000936014] Chr5:80813750 [GRCh38]
Chr5:80109569 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.315A>G (p.Gln105=) single nucleotide variant not provided [RCV000933865] Chr5:80656488 [GRCh38]
Chr5:79952307 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.988T>C (p.Leu330=) single nucleotide variant not provided [RCV000933866] Chr5:80672819 [GRCh38]
Chr5:79968638 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.1194C>T (p.Gly398=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001010173]|not provided [RCV000934982] Chr5:80678947 [GRCh38]
Chr5:79974766 [GRCh37]
Chr5:5q14.1
likely benign|uncertain significance
NM_002439.5(MSH3):c.1314G>A (p.Ala438=) single nucleotide variant not provided [RCV000934983] Chr5:80679067 [GRCh38]
Chr5:79974886 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.198C>T (p.Pro66=) single nucleotide variant not provided [RCV000913991] Chr5:80654925 [GRCh38]
Chr5:79950744 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.792+8G>A single nucleotide variant not provided [RCV000914002]|not specified [RCV001001736] Chr5:80670317 [GRCh38]
Chr5:79966136 [GRCh37]
Chr5:5q14.1
benign|likely benign
NM_002439.5(MSH3):c.186_194GCCCCCAGC[1] (p.64_66PAP[1]) microsatellite not provided [RCV000890699] Chr5:80654909..80654917 [GRCh38]
Chr5:79950728..79950736 [GRCh37]
Chr5:5q14.1
benign
NM_002439.5(MSH3):c.2685C>T (p.Thr895=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001016294]|not provided [RCV000934820] Chr5:80813613 [GRCh38]
Chr5:80109432 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.2691A>G (p.Pro897=) single nucleotide variant not provided [RCV000935316] Chr5:80813619 [GRCh38]
Chr5:80109438 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.57G>T (p.Ala19=) single nucleotide variant not provided [RCV000935389] Chr5:80654784 [GRCh38]
Chr5:79950603 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.3036G>A (p.Pro1012=) single nucleotide variant not provided [RCV000935435] Chr5:80864848 [GRCh38]
Chr5:80160667 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.2790G>A (p.Gly930=) single nucleotide variant not provided [RCV000935436] Chr5:80813718 [GRCh38]
Chr5:80109537 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.409T>C (p.Leu137=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001021862]|not provided [RCV000912938] Chr5:80665193 [GRCh38]
Chr5:79961012 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.96A>C (p.Gly32=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001019649]|not provided [RCV000935494] Chr5:80654823 [GRCh38]
Chr5:79950642 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.1278G>C (p.Leu426=) single nucleotide variant not provided [RCV000935247] Chr5:80679031 [GRCh38]
Chr5:79974850 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.193G>C (p.Ala65Pro) single nucleotide variant not provided [RCV000935547] Chr5:80654920 [GRCh38]
Chr5:79950739 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.1503C>T (p.Cys501=) single nucleotide variant not provided [RCV000935498] Chr5:80728900 [GRCh38]
Chr5:80024719 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.3000+10C>T single nucleotide variant not provided [RCV000935601] Chr5:80854326 [GRCh38]
Chr5:80150145 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.3001-9T>C single nucleotide variant not provided [RCV000911377] Chr5:80864804 [GRCh38]
Chr5:80160623 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.2740A>G (p.Ile914Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001016459]|not provided [RCV000934882] Chr5:80813668 [GRCh38]
Chr5:80109487 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.951C>A (p.Ala317=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001019440]|not provided [RCV000934986] Chr5:80672782 [GRCh38]
Chr5:79968601 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.528C>T (p.His176=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001023872]|not provided [RCV000935232] Chr5:80665312 [GRCh38]
Chr5:79961131 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.609del (p.Phe203fs) deletion not provided [RCV001056528] Chr5:80670124 [GRCh38]
Chr5:79965943 [GRCh37]
Chr5:5q14.1
pathogenic
NM_002439.5(MSH3):c.2672T>A (p.Val891Glu) single nucleotide variant not provided [RCV001057293] Chr5:80813600 [GRCh38]
Chr5:80109419 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.3184G>A (p.Gly1062Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001019048]|not provided [RCV001052973] Chr5:80873169 [GRCh38]
Chr5:80168988 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1807T>G (p.Ser603Ala) single nucleotide variant not provided [RCV001054412] Chr5:80761589 [GRCh38]
Chr5:80057408 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2180G>T (p.Arg727Leu) single nucleotide variant not provided [RCV001054563] Chr5:80768930 [GRCh38]
Chr5:80064749 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2435+1G>C single nucleotide variant not provided [RCV001054767] Chr5:80778837 [GRCh38]
Chr5:80074656 [GRCh37]
Chr5:5q14.1
likely pathogenic
NM_002439.5(MSH3):c.2512G>A (p.Ala838Thr) single nucleotide variant not provided [RCV001055139] Chr5:80787641 [GRCh38]
Chr5:80083460 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2744T>G (p.Met915Arg) single nucleotide variant not provided [RCV001056219] Chr5:80813672 [GRCh38]
Chr5:80109491 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.3407T>A (p.Leu1136His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001020223]|not provided [RCV001039472] Chr5:80875855 [GRCh38]
Chr5:80171674 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.715A>G (p.Met239Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001026092] Chr5:80670232 [GRCh38]
Chr5:79966051 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1060_1092dup (p.Val354_Ser364dup) duplication Hereditary cancer-predisposing syndrome [RCV001009811]|not provided [RCV001067739] Chr5:80675012..80675013 [GRCh38]
Chr5:79970831..79970832 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.952A>G (p.Ile318Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001019463]|not provided [RCV001060703] Chr5:80672783 [GRCh38]
Chr5:79968602 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.3294T>A (p.Asn1098Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001019749] Chr5:80873279 [GRCh38]
Chr5:80169098 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.481G>A (p.Ala161Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001023110]|not provided [RCV001044025] Chr5:80665265 [GRCh38]
Chr5:79961084 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1772del (p.Asn591fs) deletion Hereditary cancer-predisposing syndrome [RCV001013063] Chr5:80761552 [GRCh38]
Chr5:80057371 [GRCh37]
Chr5:5q14.1
pathogenic
NM_002439.5(MSH3):c.1768A>G (p.Ile590Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001013083]|not provided [RCV001071577] Chr5:80761550 [GRCh38]
Chr5:80057369 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.755G>A (p.Cys252Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001026568] Chr5:80670272 [GRCh38]
Chr5:79966091 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1840C>G (p.His614Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001013362]|not provided [RCV001210842] Chr5:80761622 [GRCh38]
Chr5:80057441 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1875C>A (p.Leu625=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001013492] Chr5:80761657 [GRCh38]
Chr5:80057476 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.795T>G (p.Ile265Met) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001027003] Chr5:80672246 [GRCh38]
Chr5:79968065 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1969C>T (p.Pro657Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001013873]|not provided [RCV001040688] Chr5:80768005 [GRCh38]
Chr5:80063824 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1187C>T (p.Ala396Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001010220]|not provided [RCV001233533] Chr5:80678940 [GRCh38]
Chr5:79974759 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.592T>A (p.Phe198Ile) single nucleotide variant not provided [RCV001069911] Chr5:80670109 [GRCh38]
Chr5:79965928 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.222G>C (p.Gln74His) single nucleotide variant not provided [RCV001053804] Chr5:80654949 [GRCh38]
Chr5:79950768 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.3339G>A (p.Met1113Ile) single nucleotide variant not provided [RCV001054574] Chr5:80875787 [GRCh38]
Chr5:80171606 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2435+2T>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001015524] Chr5:80778838 [GRCh38]
Chr5:80074657 [GRCh37]
Chr5:5q14.1
likely pathogenic
NM_002439.5(MSH3):c.202G>C (p.Ala68Pro) single nucleotide variant not provided [RCV001061737] Chr5:80654929 [GRCh38]
Chr5:79950748 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2589G>A (p.Arg863=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001016029] Chr5:80792778 [GRCh38]
Chr5:80088597 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.3355C>G (p.Leu1119Val) single nucleotide variant not provided [RCV001062224] Chr5:80875803 [GRCh38]
Chr5:80171622 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1870G>A (p.Gly624Arg) single nucleotide variant not provided [RCV001056376] Chr5:80761652 [GRCh38]
Chr5:80057471 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1996G>C (p.Asp666His) single nucleotide variant not provided [RCV001056990] Chr5:80768032 [GRCh38]
Chr5:80063851 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2014A>G (p.Ile672Val) single nucleotide variant not provided [RCV001057123] Chr5:80768050 [GRCh38]
Chr5:80063869 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2813G>A (p.Arg938Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001016663] Chr5:80813741 [GRCh38]
Chr5:80109560 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1379A>C (p.Asn460Thr) single nucleotide variant not provided [RCV001058284] Chr5:80725491 [GRCh38]
Chr5:80021310 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2814G>A (p.Arg938=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001016668] Chr5:80854130 [GRCh38]
Chr5:80149949 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.2846A>G (p.Gln949Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001016772] Chr5:80854162 [GRCh38]
Chr5:80149981 [GRCh37]
Chr5:5q14.1
benign
NM_002439.5(MSH3):c.1410G>A (p.Gln470=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001011406] Chr5:80725522 [GRCh38]
Chr5:80021341 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.1425T>G (p.Phe475Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001011485]|not provided [RCV001227041] Chr5:80725537 [GRCh38]
Chr5:80021356 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1087dup (p.Thr363fs) duplication Hereditary cancer-predisposing syndrome [RCV001017172]|not provided [RCV001055766] Chr5:80675041..80675042 [GRCh38]
Chr5:79970860..79970861 [GRCh37]
Chr5:5q14.1
pathogenic
NM_002439.5(MSH3):c.2927A>G (p.Glu976Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001017519]|not provided [RCV001203706] Chr5:80854243 [GRCh38]
Chr5:80150062 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2499C>G (p.Cys833Trp) single nucleotide variant not provided [RCV001060040] Chr5:80787628 [GRCh38]
Chr5:80083447 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.786T>G (p.Asp262Glu) single nucleotide variant not provided [RCV001063699] Chr5:80670303 [GRCh38]
Chr5:79966122 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.3062A>G (p.Tyr1021Cys) single nucleotide variant not provided [RCV001063988] Chr5:80864874 [GRCh38]
Chr5:80160693 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1461A>C (p.Gln487His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001011692]|not provided [RCV001062037] Chr5:80728858 [GRCh38]
Chr5:80024677 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1568+3A>G single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001012169]|not provided [RCV001070044] Chr5:80728968 [GRCh38]
Chr5:80024787 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.3029A>G (p.His1010Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001018165] Chr5:80864841 [GRCh38]
Chr5:80160660 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.3061T>C (p.Tyr1021His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001018397] Chr5:80864873 [GRCh38]
Chr5:80160692 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.303_306AAAG[1] (p.Lys103fs) microsatellite Hereditary cancer-predisposing syndrome [RCV001018444] Chr5:80656476..80656479 [GRCh38]
Chr5:79952295..79952298 [GRCh37]
Chr5:5q14.1
pathogenic
NM_002439.5(MSH3):c.2984A>C (p.Glu995Ala) single nucleotide variant not provided [RCV001061380] Chr5:80854300 [GRCh38]
Chr5:80150119 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1367A>C (p.Glu456Ala) single nucleotide variant not provided [RCV001066691] Chr5:80725479 [GRCh38]
Chr5:80021298 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.751G>A (p.Glu251Lys) single nucleotide variant not provided [RCV001062583] Chr5:80670268 [GRCh38]
Chr5:79966087 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.495A>G (p.Lys165=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001023323] Chr5:80665279 [GRCh38]
Chr5:79961098 [GRCh37]
Chr5:5q14.1
likely benign
NM_002439.5(MSH3):c.1306A>G (p.Thr436Ala) single nucleotide variant not provided [RCV001067946] Chr5:80679059 [GRCh38]
Chr5:79974878 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.3177A>G (p.Ile1059Met) single nucleotide variant not provided [RCV001068122] Chr5:80873162 [GRCh38]
Chr5:80168981 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2782A>G (p.Thr928Ala) single nucleotide variant not provided [RCV001068165] Chr5:80813710 [GRCh38]
Chr5:80109529 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.280G>A (p.Asp94Asn) single nucleotide variant not provided [RCV001068268] Chr5:80656453 [GRCh38]
Chr5:79952272 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2839A>G (p.Lys947Glu) single nucleotide variant not provided [RCV001171850] Chr5:80854155 [GRCh38]
Chr5:80149974 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.613T>A (p.Ser205Thr) single nucleotide variant not provided [RCV001063492] Chr5:80670130 [GRCh38]
Chr5:79965949 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2780C>T (p.Ala927Val) single nucleotide variant not provided [RCV001068579] Chr5:80813708 [GRCh38]
Chr5:80109527 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1264C>T (p.Gln422Ter) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001010624]|not provided [RCV001044153] Chr5:80679017 [GRCh38]
Chr5:79974836 [GRCh37]
Chr5:5q14.1
pathogenic
NM_002439.5(MSH3):c.1609A>G (p.Ile537Val) single nucleotide variant not provided [RCV001064011] Chr5:80741504 [GRCh38]
Chr5:80037323 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1346A>T (p.Gln449Leu) single nucleotide variant not provided [RCV001069233] Chr5:80725458 [GRCh38]
Chr5:80021277 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.547T>C (p.Ser183Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001024161] Chr5:80665331 [GRCh38]
Chr5:79961150 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2977A>G (p.Thr993Ala) single nucleotide variant not provided [RCV001069739] Chr5:80854293 [GRCh38]
Chr5:80150112 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.427G>T (p.Asp143Tyr) single nucleotide variant not provided [RCV001069780] Chr5:80665211 [GRCh38]
Chr5:79961030 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.553G>T (p.Asp185Tyr) single nucleotide variant not provided [RCV001058198] Chr5:80665337 [GRCh38]
Chr5:79961156 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2166T>G (p.Val722=) single nucleotide variant not provided [RCV001059943] Chr5:80768916 [GRCh38]
Chr5:80064735 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2777A>G (p.Glu926Gly) single nucleotide variant not provided [RCV001060730] Chr5:80813705 [GRCh38]
Chr5:80109524 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1448dup (p.Lys484fs) duplication not provided [RCV001218451] Chr5:80725559..80725560 [GRCh38]
Chr5:80021378..80021379 [GRCh37]
Chr5:5q14.1
pathogenic
NM_002439.5(MSH3):c.2319-2A>G single nucleotide variant not provided [RCV001218526] Chr5:80778718 [GRCh38]
Chr5:80074537 [GRCh37]
Chr5:5q14.1
likely pathogenic
NM_002439.5(MSH3):c.1453+5A>C single nucleotide variant not provided [RCV001217045] Chr5:80725570 [GRCh38]
Chr5:80021389 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2827G>A (p.Asp943Asn) single nucleotide variant not provided [RCV001206001] Chr5:80854143 [GRCh38]
Chr5:80149962 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1250G>T (p.Arg417Leu) single nucleotide variant not provided [RCV001234432] Chr5:80679003 [GRCh38]
Chr5:79974822 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2728G>A (p.Ala910Thr) single nucleotide variant not provided [RCV001219715] Chr5:80813656 [GRCh38]
Chr5:80109475 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.238-2A>G single nucleotide variant not provided [RCV001219744] Chr5:80656409 [GRCh38]
Chr5:79952228 [GRCh37]
Chr5:5q14.1
likely pathogenic
NM_002439.5(MSH3):c.1150G>A (p.Gly384Ser) single nucleotide variant not provided [RCV001219754] Chr5:80675105 [GRCh38]
Chr5:79970924 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2639A>G (p.Asn880Ser) single nucleotide variant not provided [RCV001047495] Chr5:80792828 [GRCh38]
Chr5:80088647 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.928del (p.Thr310fs) deletion not provided [RCV001047889] Chr5:80672757 [GRCh38]
Chr5:79968576 [GRCh37]
Chr5:5q14.1
pathogenic
NM_002439.5(MSH3):c.3241G>A (p.Glu1081Lys) single nucleotide variant not provided [RCV001233086] Chr5:80873226 [GRCh38]
Chr5:80169045 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2943_2944delinsCT (p.Ser982Cys) indel not provided [RCV001211772] Chr5:80854259..80854260 [GRCh38]
Chr5:80150078..80150079 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2354T>C (p.Ile785Thr) single nucleotide variant not provided [RCV001206443] Chr5:80778755 [GRCh38]
Chr5:80074574 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.704_705del (p.Gln235fs) deletion not provided [RCV001217302] Chr5:80670221..80670222 [GRCh38]
Chr5:79966040..79966041 [GRCh37]
Chr5:5q14.1
pathogenic
NM_002439.5(MSH3):c.3217G>T (p.Ala1073Ser) single nucleotide variant not provided [RCV001236681] Chr5:80873202 [GRCh38]
Chr5:80169021 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2025T>G (p.Ile675Met) single nucleotide variant not provided [RCV001236724] Chr5:80768061 [GRCh38]
Chr5:80063880 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1964T>C (p.Ile655Thr) single nucleotide variant not provided [RCV001208473] Chr5:80768000 [GRCh38]
Chr5:80063819 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.512A>G (p.Asp171Gly) single nucleotide variant not provided [RCV001067923] Chr5:80665296 [GRCh38]
Chr5:79961115 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1310A>G (p.Glu437Gly) single nucleotide variant not provided [RCV001047968] Chr5:80679063 [GRCh38]
Chr5:79974882 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2360A>G (p.Glu787Gly) single nucleotide variant not provided [RCV001048257] Chr5:80778761 [GRCh38]
Chr5:80074580 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2172C>G (p.Asp724Glu) single nucleotide variant not provided [RCV001203821] Chr5:80768922 [GRCh38]
Chr5:80064741 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1418_1419del (p.Thr473fs) deletion not provided [RCV001062084] Chr5:80725529..80725530 [GRCh38]
Chr5:80021348..80021349 [GRCh37]
Chr5:5q14.1
pathogenic
NM_002439.5(MSH3):c.2660A>T (p.Asp887Val) single nucleotide variant not provided [RCV001233325] Chr5:80813588 [GRCh38]
Chr5:80109407 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.2756G>C (p.Gly919Ala) single nucleotide variant not provided [RCV001218835] Chr5:80813684 [GRCh38]
Chr5:80109503 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.545C>T (p.Ser182Phe) single nucleotide variant not provided [RCV001207579] Chr5:80665329 [GRCh38]
Chr5:79961148 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1807T>C (p.Ser603Pro) single nucleotide variant not provided [RCV001237078] Chr5:80761589 [GRCh38]
Chr5:80057408 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1046A>G (p.Lys349Arg) single nucleotide variant not provided [RCV001048710] Chr5:80675001 [GRCh38]
Chr5:79970820 [GRCh37]
Chr5:5q14.1
uncertain significance
NM_002439.5(MSH3):c.1289C>T (p.Ser430Leu) single nucleotide variant not provided [RCV001049029] Chr5:80679042 [GRCh38]
Chr5:79974861 [GRCh37]
Chr5:5q14.1
uncertain significance