MUC5B (mucin 5B, oligomeric mucus/gel-forming) - Rat Genome Database

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Gene: MUC5B (mucin 5B, oligomeric mucus/gel-forming) Homo sapiens
Analyze
Symbol: MUC5B
Name: mucin 5B, oligomeric mucus/gel-forming
RGD ID: 1347084
HGNC Page HGNC:7516
Description: Predicted to be an extracellular matrix structural constituent. Predicted to act upstream of or within defense response to bacterium and regulation of macrophage activation. Located in intracellular membrane-bounded organelle. Implicated in bronchiolitis; idiopathic pulmonary fibrosis; interstitial lung disease 2; and urinary bladder cancer. Biomarker of several diseases, including carcinoma (multiple); chronic obstructive pulmonary disease; cystic fibrosis; otitis media; and sinusitis.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: cervical mucin MUC5B; high molecular weight mucin; high molecular weight salivary mucin MG1; MG1; MUC-5B; MUC5; MUC9; mucin 5, subtype B, tracheobronchial; mucin MG1; mucin MUC5B; mucin, salivary (high molecular weight); mucin-5 subtype B, tracheobronchial; mucin-5B; sublingual gland mucin
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38111,223,066 - 1,262,172 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl111,223,066 - 1,262,172 (+)EnsemblGRCh38hg38GRCh38
GRCh37111,244,296 - 1,283,402 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36111,200,872 - 1,239,982 (+)NCBINCBI36Build 36hg18NCBI36
Celera111,282,436 - 1,319,815 (+)NCBICelera
Cytogenetic Map11p15.5NCBI
HuRef111,037,643 - 1,074,965 (+)NCBIHuRef
CHM1_1111,243,203 - 1,282,327 (+)NCBICHM1_1
T2T-CHM13v2.0111,294,310 - 1,333,348 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. Variants of MUC5B minisatellites and the susceptibility of bladder cancer. Ahn EK, etal., DNA Cell Biol. 2009 Apr;28(4):169-76. doi: 10.1089/dna.2008.0827.
2. In situ hybridization shows distinct patterns of mucin gene expression in normal, benign, and malignant pancreas tissues. Balague C, etal., Gastroenterology. 1995 Sep;109(3):953-64.
3. In silico cloning of mouse Muc5b gene and upregulation of its expression in mouse asthma model. Chen Y, etal., Am J Respir Crit Care Med. 2001 Sep 15;164(6):1059-66.
4. Up-regulation of MUC5AC and MUC5B mucin genes in nasopharyngeal respiratory mucosa and selective up-regulation of MUC5B in middle ear in pediatric otitis media with effusion. Elsheikh MN and Mahfouz ME, Laryngoscope. 2006 Mar;116(3):365-9.
5. Mucin deficiency causes functional and structural changes of the ocular surface. Floyd AM, etal., PLoS One. 2012;7(12):e50704. doi: 10.1371/journal.pone.0050704. Epub 2012 Dec 18.
6. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
7. MUC5AC and MUC5B mucins increase in cystic fibrosis airway secretions during pulmonary exacerbation. Henke MO, etal., Am J Respir Crit Care Med. 2007 Apr 15;175(8):816-21. Epub 2007 Jan 25.
8. Promoter analysis and aberrant expression of the MUC5B gene in diffuse panbronchiolitis. Kamio K, etal., Am J Respir Crit Care Med. 2005 May 1;171(9):949-57. Epub 2005 Feb 11.
9. MUC5B is the major mucin in the gel phase of sputum in chronic obstructive pulmonary disease. Kirkham S, etal., Am J Respir Crit Care Med. 2008 Nov 15;178(10):1033-9. Epub 2008 Sep 5.
10. Heterogeneity of airways mucus: variations in the amounts and glycoforms of the major oligomeric mucins MUC5AC and MUC5B. Kirkham S, etal., Biochem J. 2002 Feb 1;361(Pt 3):537-46.
11. Altered mucin gene expression in stone-containing intrahepatic bile ducts and cholangiocarcinomas. Lee KT and Liu TS, Dig Dis Sci. 2001 Oct;46(10):2166-72.
12. [Toll-like receptor 2 and Toll-like receptor 4 participates in mediation of acute otitis media and mortality in pneumococcal infections in mice]. Li SL, etal., Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2011 Dec;46(12):1009-18.
13. Expression of mucins in mucoid otitis media. Lin J, etal., J Assoc Res Otolaryngol. 2003 Sep;4(3):384-93.
14. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
15. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
16. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
17. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
18. Altered sialyl- and fucosyl-linkage on mucins in cystic fibrosis patients promotes formation of the sialyl-Lewis X determinant on salivary MUC-5B and MUC-7. Shori DK, etal., Pflugers Arch. 2001;443 Suppl 1:S55-61. Epub 2001 Sep 28.
19. HSP70 and mucin 5B: novel protein targets of N,N'-dinitrosopiperazine-induced nasopharyngeal tumorigenesis. Tang FQ, etal., Cancer Sci. 2008 Dec 4.
20. Otitis media in a new mouse model for CHARGE syndrome with a deletion in the Chd7 gene. Tian C, etal., PLoS One. 2012;7(4):e34944. doi: 10.1371/journal.pone.0034944. Epub 2012 Apr 23.
21. MUC5B secretion is up-regulated in sinusitis compared with controls. Viswanathan H, etal., Am J Rhinol. 2006 Sep-Oct;20(5):554-7.
Additional References at PubMed
PMID:1718282   PMID:7513696   PMID:7916618   PMID:8554565   PMID:8889548   PMID:9013550   PMID:9109822   PMID:9147051   PMID:9164870   PMID:9201995   PMID:9790959   PMID:9804771  
PMID:9815215   PMID:10217161   PMID:11062147   PMID:11713095   PMID:11825880   PMID:11853536   PMID:11996097   PMID:12459324   PMID:12756239   PMID:12768436   PMID:12787366   PMID:14758553  
PMID:14988081   PMID:15563276   PMID:16188033   PMID:16341674   PMID:16502470   PMID:16740002   PMID:17125499   PMID:17471237   PMID:17473699   PMID:17606809   PMID:17621824   PMID:17671696  
PMID:17703412   PMID:17850213   PMID:17998215   PMID:18272164   PMID:18282555   PMID:18339669   PMID:18688042   PMID:18757307   PMID:18817906   PMID:18834073   PMID:18976975   PMID:19077699  
PMID:19118346   PMID:19258923   PMID:19452580   PMID:19556293   PMID:19556605   PMID:19596978   PMID:19718741   PMID:19783639   PMID:20066894   PMID:20081098   PMID:20156260   PMID:20197185  
PMID:20301408   PMID:20422702   PMID:20497020   PMID:20503287   PMID:20531251   PMID:20572857   PMID:20873538   PMID:20946627   PMID:21097527   PMID:21194732   PMID:21455588   PMID:21506741  
PMID:21506748   PMID:21596555   PMID:21618303   PMID:21619869   PMID:21832046   PMID:21873635   PMID:21981454   PMID:22269464   PMID:22391959   PMID:22576636   PMID:22591690   PMID:22802285  
PMID:23207284   PMID:23249391   PMID:23314748   PMID:23321605   PMID:23406586   PMID:23527003   PMID:23533145   PMID:23692170   PMID:23695349   PMID:23783374   PMID:23807779   PMID:23929584  
PMID:23940607   PMID:24332705   PMID:24429156   PMID:24434656   PMID:24441930   PMID:24547893   PMID:24717875   PMID:24792379   PMID:24840470   PMID:24885580   PMID:24924948   PMID:25121989  
PMID:25317858   PMID:25333937   PMID:25420179   PMID:25581455   PMID:25638393   PMID:25733373   PMID:25858779   PMID:25926289   PMID:26057585   PMID:26186194   PMID:26224019   PMID:26331942  
PMID:26512610   PMID:26514822   PMID:26539479   PMID:26574733   PMID:26595739   PMID:26699835   PMID:26823827   PMID:26836909   PMID:26871672   PMID:26871673   PMID:26984395   PMID:26993521  
PMID:27230679   PMID:27729120   PMID:27776277   PMID:27845589   PMID:28272906   PMID:28346466   PMID:28352653   PMID:28514442   PMID:28594978   PMID:28648751   PMID:28719757   PMID:28893869  
PMID:28935947   PMID:28944591   PMID:28972071   PMID:29138803   PMID:29286856   PMID:29440393   PMID:29440587   PMID:29509190   PMID:29565179   PMID:29604272   PMID:29670111   PMID:29802623  
PMID:29869461   PMID:29891356   PMID:30025215   PMID:30345907   PMID:30389136   PMID:30560893   PMID:30565710   PMID:30575818   PMID:30635297   PMID:30745804   PMID:30765393   PMID:31436131  
PMID:31558622   PMID:31570524   PMID:31653936   PMID:31949121   PMID:31996780   PMID:32142504   PMID:32252656   PMID:32409323   PMID:32580994   PMID:32687490   PMID:33190061   PMID:33320836  
PMID:33639995   PMID:33737747   PMID:33794872   PMID:33961781   PMID:34058148   PMID:34192508   PMID:34389698   PMID:34411838   PMID:34591612   PMID:34656442   PMID:34861462   PMID:34874815  
PMID:34907291   PMID:35023825   PMID:35289841   PMID:35292003   PMID:35323039   PMID:35405109   PMID:35583934   PMID:35651878   PMID:35771531   PMID:35776514   PMID:35782137   PMID:35816432  
PMID:35833506   PMID:35941397   PMID:36111525   PMID:36206992   PMID:36427316   PMID:36555528   PMID:36571111   PMID:36581384   PMID:36675209   PMID:36690926   PMID:36912407   PMID:37146737  
PMID:37445925   PMID:37788672   PMID:37804135   PMID:38344913   PMID:38462543   PMID:39173029  


Genomics

Comparative Map Data
MUC5B
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38111,223,066 - 1,262,172 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl111,223,066 - 1,262,172 (+)EnsemblGRCh38hg38GRCh38
GRCh37111,244,296 - 1,283,402 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36111,200,872 - 1,239,982 (+)NCBINCBI36Build 36hg18NCBI36
Celera111,282,436 - 1,319,815 (+)NCBICelera
Cytogenetic Map11p15.5NCBI
HuRef111,037,643 - 1,074,965 (+)NCBIHuRef
CHM1_1111,243,203 - 1,282,327 (+)NCBICHM1_1
T2T-CHM13v2.0111,294,310 - 1,333,348 (+)NCBIT2T-CHM13v2.0
Muc5b
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm397141,392,796 - 141,426,826 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl7141,392,807 - 141,426,821 (+)EnsemblGRCm39 Ensembl
GRCm387141,839,059 - 141,873,089 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl7141,839,070 - 141,873,084 (+)EnsemblGRCm38mm10GRCm38
MGSCv377149,024,977 - 149,058,990 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv367141,648,460 - 141,682,474 (+)NCBIMGSCv36mm8
Celera7141,593,709 - 141,626,780 (+)NCBICelera
Cytogenetic Map7F5NCBI
cM Map787.29NCBI
Muc5b
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81206,346,400 - 206,378,367 (+)NCBIGRCr8
mRatBN7.21196,916,861 - 196,948,830 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1196,916,825 - 196,949,250 (+)EnsemblmRatBN7.2 Ensembl
Rnor_6.01214,778,459 - 214,811,237 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1214,778,496 - 214,810,720 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01221,691,881 - 221,724,641 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41201,962,340 - 201,997,147 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera1194,545,288 - 194,577,247 (+)NCBICelera
Cytogenetic Map1q41NCBI
Muc5b
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_00495547611,021,665 - 11,049,239 (-)NCBIChiLan1.0ChiLan1.0
MUC5B
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v293,636,561 - 3,678,118 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1112,848,247 - 2,890,386 (+)NCBINHGRI_mPanPan1
MUC5B
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11845,517,479 - 45,545,765 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1845,517,474 - 45,545,184 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1844,126,169 - 44,157,219 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01846,196,222 - 46,227,346 (+)NCBIROS_Cfam_1.0
UMICH_Zoey_3.11845,644,488 - 45,675,326 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01845,224,935 - 45,256,112 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01845,962,705 - 45,994,038 (+)NCBIUU_Cfam_GSD_1.0
Muc5b
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404947920,929 - 940,708 (+)NCBIHiC_Itri_2
SpeTri2.0NW_004936816174,943 - 209,241 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MUC5B
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.12807,685 - 842,096 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
MUC5B
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.111,040,756 - 1,083,246 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl11,042,110 - 1,081,240 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603898,170,452 - 98,213,879 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Muc5b
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462476621,398,595 - 21,425,755 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in MUC5B
1085 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NC_000011.10:g.1219991G>T single nucleotide variant Antisynthetase syndrome [RCV004794344]|Interstitial lung disease 2 [RCV000151031]|Pulmonary fibrosis, idiopathic, susceptibility to [RCV000023036]|Susceptibility to coronavirus disease (COVID-19) severity and mortality due to low plasma levels of MUC5B [RCV002466249]|not provided [RCV002292458] Chr11:1219991 [GRCh38]
Chr11:1219991..1219992 [GRCh38]
Chr11:1241221 [GRCh37]
Chr11:1241221..1241222 [GRCh37]
Chr11:11p15.5
risk factor|association|benign|uncertain significance|not provided
GRCh38/hg38 11p15.5-15.4(chr11:196966-4435344)x3 copy number gain See cases [RCV000050927] Chr11:196966..4435344 [GRCh38]
Chr11:196966..4456574 [GRCh37]
Chr11:186966..4413150 [NCBI36]
Chr11:11p15.5-15.4
pathogenic
GRCh38/hg38 11p15.5-15.4(chr11:196966-3377077)x3 copy number gain See cases [RCV000050947] Chr11:196966..3377077 [GRCh38]
Chr11:196966..3398307 [GRCh37]
Chr11:186966..3354883 [NCBI36]
Chr11:11p15.5-15.4
pathogenic
GRCh38/hg38 11p15.5(chr11:758848-1998025)x1 copy number loss See cases [RCV000052645] Chr11:758848..1998025 [GRCh38]
Chr11:758848..2019255 [GRCh37]
Chr11:748848..1975831 [NCBI36]
Chr11:11p15.5
pathogenic
GRCh38/hg38 11p15.5-15.4(chr11:218365-3377077)x3 copy number gain See cases [RCV000053614] Chr11:218365..3377077 [GRCh38]
Chr11:218365..3398307 [GRCh37]
Chr11:208365..3354883 [NCBI36]
Chr11:11p15.5-15.4
pathogenic
GRCh38/hg38 11p15.5-13(chr11:202758-31726224)x3 copy number gain See cases [RCV000053613] Chr11:202758..31726224 [GRCh38]
Chr11:202758..31747772 [GRCh37]
Chr11:192758..31704348 [NCBI36]
Chr11:11p15.5-13
pathogenic
GRCh38/hg38 11p15.5-15.4(chr11:196966-3624139)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053592]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053592]|See cases [RCV000053592] Chr11:196966..3624139 [GRCh38]
Chr11:196966..3645369 [GRCh37]
Chr11:186966..3601945 [NCBI36]
Chr11:11p15.5-15.4
pathogenic
NM_002458.3(MUC5B):c.6647C>T (p.Ser2216Leu) single nucleotide variant not specified [RCV004318370] Chr11:1243527 [GRCh38]
Chr11:1264757 [GRCh37]
Chr11:1221333 [NCBI36]
Chr11:11p15.5
uncertain significance|not provided
NM_002458.3(MUC5B):c.9385C>T (p.Pro3129Ser) single nucleotide variant Interstitial lung disease 2 [RCV001332135] Chr11:1246265 [GRCh38]
Chr11:1267495 [GRCh37]
Chr11:11p15.5
uncertain significance
GRCh37/hg19 11p15.5-15.4(chr11:10701-5080415)x2 copy number gain See cases [RCV001310286] Chr11:10701..5080415 [GRCh37]
Chr11:11p15.5-15.4
pathogenic
NM_002458.3(MUC5B):c.4389C>T (p.Thr1463=) single nucleotide variant not provided [RCV004718090]|not specified [RCV000177536] Chr11:1241269 [GRCh38]
Chr11:1262499 [GRCh37]
Chr11:11p15.5
benign
NM_002458.3(MUC5B):c.4797T>C (p.Ser1599=) single nucleotide variant not provided [RCV001668341]|not specified [RCV000177537] Chr11:1241677 [GRCh38]
Chr11:1262907 [GRCh37]
Chr11:11p15.5
benign
GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3 copy number gain See cases [RCV000133997] Chr11:446754..18904742 [GRCh38]
Chr11:446754..18926289 [GRCh37]
Chr11:436754..18882865 [NCBI36]
Chr11:11p15.5-15.1
pathogenic
GRCh38/hg38 11p15.5-15.4(chr11:61793-10727969)x3 copy number gain See cases [RCV000139987] Chr11:61793..10727969 [GRCh38]
Chr11:61793..10749516 [GRCh37]
Chr11:51793..10706092 [NCBI36]
Chr11:11p15.5-15.4
pathogenic
GRCh38/hg38 11p15.5-15.4(chr11:1132899-3213923)x1 copy number loss See cases [RCV000142464] Chr11:1132899..3213923 [GRCh38]
Chr11:1126807..3235153 [GRCh37]
Chr11:1116807..3191729 [NCBI36]
Chr11:11p15.5-15.4
pathogenic
GRCh38/hg38 11p15.5-15.4(chr11:196855-5321874)x3 copy number gain See cases [RCV000142890] Chr11:196855..5321874 [GRCh38]
Chr11:196855..5343104 [GRCh37]
Chr11:186855..5299680 [NCBI36]
Chr11:11p15.5-15.4
pathogenic
GRCh38/hg38 11p15.5(chr11:196855-2116185)x3 copy number gain See cases [RCV000142923] Chr11:196855..2116185 [GRCh38]
Chr11:196855..2137415 [GRCh37]
Chr11:186855..2093991 [NCBI36]
Chr11:11p15.5
pathogenic
NM_002458.3(MUC5B):c.15478-13T>C single nucleotide variant not provided [RCV004718052]|not specified [RCV000151045] Chr11:1254681 [GRCh38]
Chr11:1275911 [GRCh37]
Chr11:11p15.5
benign
NM_002458.3(MUC5B):c.15542T>C (p.Leu5181Pro) single nucleotide variant not provided [RCV004718053]|not specified [RCV000151046] Chr11:1254758 [GRCh38]
Chr11:1275988 [GRCh37]
Chr11:11p15.5
benign
NM_002458.3(MUC5B):c.15817G>C (p.Ala5273Pro) single nucleotide variant not provided [RCV004718054]|not specified [RCV000151047] Chr11:1255193 [GRCh38]
Chr11:1276423 [GRCh37]
Chr11:11p15.5
benign
NM_002458.3(MUC5B):c.16053C>T (p.Thr5351=) single nucleotide variant not provided [RCV004718055]|not specified [RCV000151048] Chr11:1255545 [GRCh38]
Chr11:1276775 [GRCh37]
Chr11:11p15.5
benign
NM_002458.3(MUC5B):c.16137-7C>T single nucleotide variant not provided [RCV004718056]|not specified [RCV000151050] Chr11:1256664 [GRCh38]
Chr11:1277894 [GRCh37]
Chr11:11p15.5
benign
NM_002458.3(MUC5B):c.3198A>G (p.Ala1066=) single nucleotide variant not specified [RCV000151041] Chr11:1237065 [GRCh38]
Chr11:1258295 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.16273G>A (p.Gly5425Arg) single nucleotide variant not specified [RCV000151049] Chr11:1257533 [GRCh38]
Chr11:1278763 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.101A>G (p.Glu34Gly) single nucleotide variant not provided [RCV001618304]|not specified [RCV000151032] Chr11:1225711 [GRCh38]
Chr11:1246941 [GRCh37]
Chr11:11p15.5
benign
NM_002458.3(MUC5B):c.151C>T (p.Arg51Trp) single nucleotide variant not provided [RCV001538966]|not specified [RCV000151033] Chr11:1226228 [GRCh38]
Chr11:1247458 [GRCh37]
Chr11:11p15.5
benign
NM_002458.3(MUC5B):c.324C>T (p.Arg108=) single nucleotide variant not provided [RCV000950196]|not specified [RCV000151034] Chr11:1226739 [GRCh38]
Chr11:1247969 [GRCh37]
Chr11:11p15.5
benign|likely benign
NM_002458.3(MUC5B):c.442G>A (p.Val148Ile) single nucleotide variant not provided [RCV004718046]|not specified [RCV000151035] Chr11:1226857 [GRCh38]
Chr11:1248087 [GRCh37]
Chr11:11p15.5
benign|likely benign
NM_002458.3(MUC5B):c.576+9G>T single nucleotide variant not provided [RCV004718047]|not specified [RCV000151036] Chr11:1227154 [GRCh38]
Chr11:1248384 [GRCh37]
Chr11:11p15.5
benign
NM_002458.3(MUC5B):c.1596G>C (p.Leu532=) single nucleotide variant not provided [RCV001689695]|not specified [RCV000151037] Chr11:1231478 [GRCh38]
Chr11:1252708 [GRCh37]
Chr11:11p15.5
benign
NM_002458.3(MUC5B):c.1843+11C>G single nucleotide variant not provided [RCV001651013]|not specified [RCV000151038] Chr11:1232171 [GRCh38]
Chr11:1253401 [GRCh37]
Chr11:11p15.5
benign
NM_002458.3(MUC5B):c.2007T>C (p.Tyr669=) single nucleotide variant not provided [RCV004718048]|not specified [RCV000151039] Chr11:1232712 [GRCh38]
Chr11:1253942 [GRCh37]
Chr11:11p15.5
benign
NM_002458.3(MUC5B):c.2493C>T (p.Cys831=) single nucleotide variant not provided [RCV001723711]|not specified [RCV000151040] Chr11:1234543 [GRCh38]
Chr11:1255773 [GRCh37]
Chr11:11p15.5
benign
NM_002458.3(MUC5B):c.3928C>T (p.Pro1310Ser) single nucleotide variant not provided [RCV004718049]|not specified [RCV000151042] Chr11:1240333 [GRCh38]
Chr11:1261563 [GRCh37]
Chr11:11p15.5
benign
NM_002458.3(MUC5B):c.14937T>C (p.Ile4979=) single nucleotide variant not provided [RCV004718050]|not specified [RCV000151043] Chr11:1252416 [GRCh38]
Chr11:1273646 [GRCh37]
Chr11:11p15.5
benign
NM_002458.3(MUC5B):c.15477+11G>A single nucleotide variant not provided [RCV004718051]|not specified [RCV000151044] Chr11:1254362 [GRCh38]
Chr11:1275592 [GRCh37]
Chr11:11p15.5
benign
NM_002458.3(MUC5B):c.16306G>A (p.Val5436Met) single nucleotide variant not provided [RCV004718057]|not specified [RCV000151051] Chr11:1257566 [GRCh38]
Chr11:1278796 [GRCh37]
Chr11:11p15.5
benign
NM_002458.3(MUC5B):c.16422G>C (p.Glu5474Asp) single nucleotide variant not provided [RCV004718058]|not specified [RCV000151052] Chr11:1257682 [GRCh38]
Chr11:1278912 [GRCh37]
Chr11:11p15.5
benign
NM_002458.3(MUC5B):c.16660G>A (p.Asp5554Asn) single nucleotide variant MUC5B-related disorder [RCV004758653]|not provided [RCV004718059]|not specified [RCV000151053] Chr11:1259008 [GRCh38]
Chr11:1280238 [GRCh37]
Chr11:11p15.5
benign
NM_002458.3(MUC5B):c.16713+10G>A single nucleotide variant not provided [RCV001534087]|not specified [RCV000151054] Chr11:1259071 [GRCh38]
Chr11:1280301 [GRCh37]
Chr11:11p15.5
benign
NM_002458.3(MUC5B):c.17043C>T (p.Cys5681=) single nucleotide variant MUC5B-related disorder [RCV004758654]|not provided [RCV000952687]|not specified [RCV000151055] Chr11:1260702 [GRCh38]
Chr11:1281932 [GRCh37]
Chr11:11p15.5
benign|likely benign
NM_002458.3(MUC5B):c.723G>A (p.Thr241=) single nucleotide variant not provided [RCV001636699]|not specified [RCV000155551] Chr11:1227730 [GRCh38]
Chr11:1227730..1227731 [GRCh38]
Chr11:1248960 [GRCh37]
Chr11:1248960..1248961 [GRCh37]
Chr11:11p15.5
benign
NM_002458.3(MUC5B):c.757G>A (p.Gly253Ser) single nucleotide variant not provided [RCV004718072]|not specified [RCV000155552] Chr11:1227764 [GRCh38]
Chr11:1248994 [GRCh37]
Chr11:11p15.5
benign
NM_002458.3(MUC5B):c.933C>T (p.His311=) single nucleotide variant not specified [RCV000155553] Chr11:1228722 [GRCh38]
Chr11:1249952 [GRCh37]
Chr11:11p15.5
benign
NM_002458.3(MUC5B):c.1065C>T (p.Cys355=) single nucleotide variant not provided [RCV001540491]|not specified [RCV000155554] Chr11:1229258 [GRCh38]
Chr11:1250488 [GRCh37]
Chr11:11p15.5
benign
NM_002458.3(MUC5B):c.1103-11G>C single nucleotide variant not provided [RCV004718073]|not specified [RCV000155555] Chr11:1229679 [GRCh38]
Chr11:1250909 [GRCh37]
Chr11:11p15.5
benign
NM_002458.3(MUC5B):c.1287C>T (p.Gly429=) single nucleotide variant not provided [RCV004718074]|not specified [RCV000155556] Chr11:1230071 [GRCh38]
Chr11:1251301 [GRCh37]
Chr11:11p15.5
benign
NM_002458.3(MUC5B):c.2429C>A (p.Thr810Asn) single nucleotide variant not provided [RCV000885543]|not specified [RCV000155557] Chr11:1234256 [GRCh38]
Chr11:1255486 [GRCh37]
Chr11:11p15.5
benign|likely benign
NM_002458.3(MUC5B):c.2631-9C>G single nucleotide variant not provided [RCV004718075]|not specified [RCV000155558] Chr11:1235076 [GRCh38]
Chr11:1256306 [GRCh37]
Chr11:11p15.5
benign
NM_002458.3(MUC5B):c.15218-4G>A single nucleotide variant not provided [RCV004718076]|not specified [RCV000155559] Chr11:1254088 [GRCh38]
Chr11:1275318 [GRCh37]
Chr11:11p15.5
benign
NM_002458.3(MUC5B):c.15450C>T (p.Thr5150=) single nucleotide variant not provided [RCV004718077]|not specified [RCV000155560] Chr11:1254324 [GRCh38]
Chr11:1275554 [GRCh37]
Chr11:11p15.5
benign
NM_002458.3(MUC5B):c.15477+12C>A single nucleotide variant not provided [RCV004718078]|not specified [RCV000155561] Chr11:1254363 [GRCh38]
Chr11:1275593 [GRCh37]
Chr11:11p15.5
benign
NM_002458.3(MUC5B):c.16450+8G>C single nucleotide variant not provided [RCV004718082]|not specified [RCV000155566] Chr11:1257718 [GRCh38]
Chr11:1278948 [GRCh37]
Chr11:11p15.5
benign
NM_002458.3(MUC5B):c.15861A>G (p.Pro5287=) single nucleotide variant not provided [RCV004706605]|not specified [RCV000155562] Chr11:1255237 [GRCh38]
Chr11:1276467 [GRCh37]
Chr11:11p15.5
benign|likely benign|conflicting interpretations of pathogenicity
NM_002458.3(MUC5B):c.15972T>C (p.Leu5324=) single nucleotide variant not provided [RCV004718079]|not specified [RCV000155563] Chr11:1255464 [GRCh38]
Chr11:1276694 [GRCh37]
Chr11:11p15.5
benign
NM_002458.3(MUC5B):c.16014C>T (p.Cys5338=) single nucleotide variant not provided [RCV004718080]|not specified [RCV000155564] Chr11:1255506 [GRCh38]
Chr11:1276736 [GRCh37]
Chr11:11p15.5
benign
NM_002458.3(MUC5B):c.16110C>A (p.Pro5370=) single nucleotide variant not provided [RCV004718081]|not specified [RCV000155565] Chr11:1256199 [GRCh38]
Chr11:1277429 [GRCh37]
Chr11:11p15.5
benign
NM_002458.3(MUC5B):c.17016C>T (p.Cys5672=) single nucleotide variant not provided [RCV000178649] Chr11:1260675 [GRCh38]
Chr11:1281905 [GRCh37]
Chr11:11p15.5
conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 11p15.5-15.4(chr11:193187-5291338)x3 copy number gain See cases [RCV000446036] Chr11:193187..5291338 [GRCh37]
Chr11:11p15.5-15.4
pathogenic
GRCh37/hg19 11p15.5(chr11:850336-1491561)x1 copy number loss Breast ductal adenocarcinoma [RCV000207296] Chr11:850336..1491561 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.1541-5G>A single nucleotide variant not provided [RCV004718104]|not specified [RCV000219499] Chr11:1231418 [GRCh38]
Chr11:1252648 [GRCh37]
Chr11:11p15.5
benign
NM_002458.3(MUC5B):c.15721G>A (p.Ala5241Thr) single nucleotide variant not provided [RCV001723793]|not specified [RCV000221899] Chr11:1255097 [GRCh38]
Chr11:1276327 [GRCh37]
Chr11:11p15.5
benign
NM_002458.3(MUC5B):c.2769+4C>T single nucleotide variant not provided [RCV000957630]|not specified [RCV000223555] Chr11:1235227 [GRCh38]
Chr11:1256457 [GRCh37]
Chr11:11p15.5
benign
GRCh37/hg19 11p15.5(chr11:461373-2157956)x4 copy number gain not provided [RCV002473945] Chr11:461373..2157956 [GRCh37]
Chr11:11p15.5
pathogenic
NM_002458.3(MUC5B):c.2925G>A (p.Ala975=) single nucleotide variant not provided [RCV004705047]|not specified [RCV000222297] Chr11:1236430 [GRCh38]
Chr11:1257660 [GRCh37]
Chr11:11p15.5
likely benign
Single allele complex Breast ductal adenocarcinoma [RCV000207104] Chr11:870446..1857751 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.16442C>T (p.Thr5481Met) single nucleotide variant not specified [RCV000222460] Chr11:1257702 [GRCh38]
Chr11:1278932 [GRCh37]
Chr11:11p15.5
uncertain significance
chr11:1092954..1857751 complex variant complex Breast ductal adenocarcinoma [RCV000207239] Chr11:1092954..1857751 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.16593+15G>C single nucleotide variant not provided [RCV004718106]|not specified [RCV000218644] Chr11:1258382 [GRCh38]
Chr11:1279612 [GRCh37]
Chr11:11p15.5
benign
NM_002458.3(MUC5B):c.15238G>A (p.Gly5080Ser) single nucleotide variant not specified [RCV000221089] Chr11:1254112 [GRCh38]
Chr11:1275342 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.15104G>A (p.Arg5035His) single nucleotide variant not specified [RCV000214556] Chr11:1252867 [GRCh38]
Chr11:1274097 [GRCh37]
Chr11:11p15.5
benign
NM_002458.3(MUC5B):c.17044G>A (p.Glu5682Lys) single nucleotide variant not specified [RCV000214810] Chr11:1260703 [GRCh38]
Chr11:1281933 [GRCh37]
Chr11:11p15.5
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002458.3(MUC5B):c.16476G>A (p.Gln5492=) single nucleotide variant not provided [RCV004718105]|not specified [RCV000214916] Chr11:1258124 [GRCh38]
Chr11:1279354 [GRCh37]
Chr11:11p15.5
benign
NM_002458.3(MUC5B):c.1440G>A (p.Ala480=) single nucleotide variant not provided [RCV004718103]|not specified [RCV000221454] Chr11:1230570 [GRCh38]
Chr11:1251800 [GRCh37]
Chr11:11p15.5
benign
NM_002458.3(MUC5B):c.2068A>G (p.Lys690Glu) single nucleotide variant not specified [RCV000216809] Chr11:1233015 [GRCh38]
Chr11:1254245 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.2478+8C>A single nucleotide variant not specified [RCV000219303] Chr11:1234313 [GRCh38]
Chr11:1255543 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.15560G>A (p.Arg5187His) single nucleotide variant not provided [RCV000971574]|not specified [RCV000601277] Chr11:1254776 [GRCh38]
Chr11:1276006 [GRCh37]
Chr11:11p15.5
benign
NM_002458.3(MUC5B):c.200-12C>T single nucleotide variant not specified [RCV000605761] Chr11:1226603 [GRCh38]
Chr11:1247833 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.1497C>T (p.Gly499=) single nucleotide variant not provided [RCV000891523]|not specified [RCV000604116] Chr11:1230962 [GRCh38]
Chr11:1252192 [GRCh37]
Chr11:11p15.5
benign|likely benign
NM_002458.3(MUC5B):c.16960G>C (p.Glu5654Gln) single nucleotide variant not specified [RCV000607181] Chr11:1260387 [GRCh38]
Chr11:1281617 [GRCh37]
Chr11:11p15.5
uncertain significance
GRCh37/hg19 11p15.5-15.4(chr11:230615-6644927)x3 copy number gain See cases [RCV000449417] Chr11:230615..6644927 [GRCh37]
Chr11:11p15.5-15.4
pathogenic
GRCh37/hg19 11p15.5(chr11:1115899-1261163) copy number loss Abnormal esophagus morphology [RCV000416913] Chr11:1115899..1261163 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.12581G>C (p.Ser4194Thr) single nucleotide variant not provided [RCV001357337]|not specified [RCV000454419] Chr11:1249461 [GRCh38]
Chr11:1270691 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.7676C>T (p.Thr2559Met) single nucleotide variant not provided [RCV001692117]|not specified [RCV000454421] Chr11:1244556 [GRCh38]
Chr11:1265786 [GRCh37]
Chr11:11p15.5
benign
NM_002458.3(MUC5B):c.8886T>C (p.Arg2962=) single nucleotide variant not provided [RCV004707289]|not specified [RCV000454430] Chr11:1245766 [GRCh38]
Chr11:1266996 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.14748C>T (p.Phe4916=) single nucleotide variant not provided [RCV001683499]|not specified [RCV000454466] Chr11:1251628 [GRCh38]
Chr11:1272858 [GRCh37]
Chr11:11p15.5
benign
NM_002458.3(MUC5B):c.10527G>T (p.Leu3509=) single nucleotide variant not provided [RCV001637025]|not specified [RCV000454495] Chr11:1247407 [GRCh38]
Chr11:1268637 [GRCh37]
Chr11:11p15.5
benign
NM_002458.3(MUC5B):c.9954C>T (p.Ala3318=) single nucleotide variant not provided [RCV001672768]|not specified [RCV000454535] Chr11:1246834 [GRCh38]
Chr11:1268064 [GRCh37]
Chr11:11p15.5
benign
NM_002458.3(MUC5B):c.6581T>C (p.Met2194Thr) single nucleotide variant not provided [RCV001653801]|not specified [RCV000454547] Chr11:1243461 [GRCh38]
Chr11:1264691 [GRCh37]
Chr11:11p15.5
benign
NM_002458.3(MUC5B):c.9626G>A (p.Arg3209Lys) single nucleotide variant not provided [RCV004718672]|not specified [RCV000454579] Chr11:1246506 [GRCh38]
Chr11:1267736 [GRCh37]
Chr11:11p15.5
benign
NM_002458.3(MUC5B):c.6713T>C (p.Leu2238Pro) single nucleotide variant not provided [RCV001709651]|not specified [RCV000454597] Chr11:1243593 [GRCh38]
Chr11:1264823 [GRCh37]
Chr11:11p15.5
benign
NM_002458.3(MUC5B):c.9140C>A (p.Thr3047Asn) single nucleotide variant not provided [RCV004705590]|not specified [RCV000454611] Chr11:1246020 [GRCh38]
Chr11:1267250 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.2377+12CCCTG[3] microsatellite not specified [RCV000454620] Chr11:1233860..1233864 [GRCh38]
Chr11:1255090..1255094 [GRCh37]
Chr11:11p15.5
benign
NM_002458.3(MUC5B):c.11562T>C (p.Ser3854=) single nucleotide variant not provided [RCV001692118]|not specified [RCV000454629] Chr11:1248442 [GRCh38]
Chr11:1269672 [GRCh37]
Chr11:11p15.5
benign
NM_002458.3(MUC5B):c.10845C>T (p.Leu3615=) single nucleotide variant not provided [RCV001613278]|not specified [RCV000454665] Chr11:1247725 [GRCh38]
Chr11:1268955 [GRCh37]
Chr11:11p15.5
benign
NM_002458.3(MUC5B):c.8489C>T (p.Pro2830Leu) single nucleotide variant not provided [RCV001712411]|not specified [RCV000454670] Chr11:1245369 [GRCh38]
Chr11:1266599 [GRCh37]
Chr11:11p15.5
benign
NM_002458.3(MUC5B):c.9048G>A (p.Pro3016=) single nucleotide variant not provided [RCV004718666]|not specified [RCV000454679] Chr11:1245928 [GRCh38]
Chr11:1267158 [GRCh37]
Chr11:11p15.5
benign
NM_002458.3(MUC5B):c.13674T>C (p.Thr4558=) single nucleotide variant not provided [RCV004705594]|not specified [RCV000454738] Chr11:1250554 [GRCh38]
Chr11:1271784 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.9181T>C (p.Ser3061Pro) single nucleotide variant not provided [RCV004707291]|not specified [RCV000454786] Chr11:1246061 [GRCh38]
Chr11:1267291 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.12537G>C (p.Gln4179His) single nucleotide variant Interstitial lung disease 2 [RCV001420689]|not provided [RCV001613279]|not specified [RCV000454811] Chr11:1249417 [GRCh38]
Chr11:1270647 [GRCh37]
Chr11:11p15.5
benign
NM_002458.3(MUC5B):c.9603C>G (p.Thr3201=) single nucleotide variant not provided [RCV004718670]|not specified [RCV000454835] Chr11:1246483 [GRCh38]
Chr11:1267713 [GRCh37]
Chr11:11p15.5
benign
NM_002458.3(MUC5B):c.9501C>G (p.Pro3167=) single nucleotide variant not provided [RCV004718667]|not specified [RCV000454868] Chr11:1246381 [GRCh38]
Chr11:1267611 [GRCh37]
Chr11:11p15.5
benign
NM_002458.3(MUC5B):c.14718T>C (p.Pro4906=) single nucleotide variant not provided [RCV004707292]|not specified [RCV000454881] Chr11:1251598 [GRCh38]
Chr11:1272828 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.5822C>G (p.Thr1941Ser) single nucleotide variant not provided [RCV004718664]|not specified [RCV000454919] Chr11:1242702 [GRCh38]
Chr11:1263932 [GRCh37]
Chr11:11p15.5
benign
NM_002458.3(MUC5B):c.14491G>A (p.Ala4831Thr) single nucleotide variant not provided [RCV004705596]|not specified [RCV000454924] Chr11:1251371 [GRCh38]
Chr11:1272601 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.14057C>T (p.Thr4686Met) single nucleotide variant not provided [RCV004718675]|not specified [RCV000454943] Chr11:1250937 [GRCh38]
Chr11:1272167 [GRCh37]
Chr11:11p15.5
benign
NM_002458.3(MUC5B):c.6252A>G (p.Thr2084=) single nucleotide variant not provided [RCV001637024]|not specified [RCV000454960] Chr11:1243132 [GRCh38]
Chr11:1264362 [GRCh37]
Chr11:11p15.5
benign
NM_002458.3(MUC5B):c.13319C>T (p.Pro4440Leu) single nucleotide variant not provided [RCV001683498]|not specified [RCV000454989] Chr11:1250199 [GRCh38]
Chr11:1271429 [GRCh37]
Chr11:11p15.5
benign
NM_002458.3(MUC5B):c.6600A>G (p.Arg2200=) single nucleotide variant not provided [RCV001692116]|not specified [RCV000455008] Chr11:1243480 [GRCh38]
Chr11:1264710 [GRCh37]
Chr11:11p15.5
benign
NM_002458.3(MUC5B):c.9807T>C (p.Ser3269=) single nucleotide variant not provided [RCV001643154]|not specified [RCV000455009] Chr11:1246687 [GRCh38]
Chr11:1267917 [GRCh37]
Chr11:11p15.5
benign
NM_002458.3(MUC5B):c.6780A>G (p.Arg2260=) single nucleotide variant not provided [RCV001662410]|not specified [RCV000455039] Chr11:1243660 [GRCh38]
Chr11:1264890 [GRCh37]
Chr11:11p15.5
benign
NM_002458.3(MUC5B):c.14573T>C (p.Met4858Thr) single nucleotide variant not provided [RCV004696196]|not specified [RCV000455060] Chr11:1251453 [GRCh38]
Chr11:1272683 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.8900A>G (p.Asn2967Ser) single nucleotide variant not provided [RCV004705588]|not specified [RCV000455071] Chr11:1245780 [GRCh38]
Chr11:1267010 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.7829C>G (p.Thr2610Ser) single nucleotide variant not provided [RCV004718665]|not specified [RCV000455086] Chr11:1244709 [GRCh38]
Chr11:1265939 [GRCh37]
Chr11:11p15.5
benign
NM_002458.3(MUC5B):c.11105C>T (p.Thr3702Met) single nucleotide variant not provided [RCV001721494]|not specified [RCV000455092] Chr11:1247985 [GRCh38]
Chr11:1269215 [GRCh37]
Chr11:11p15.5
benign
NM_002458.3(MUC5B):c.7826T>C (p.Leu2609Pro) single nucleotide variant not provided [RCV004707288]|not specified [RCV000455113] Chr11:1244706 [GRCh38]
Chr11:1265936 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.10572T>C (p.Ser3524=) single nucleotide variant not provided [RCV001683497]|not specified [RCV000455135] Chr11:1247452 [GRCh38]
Chr11:1268682 [GRCh37]
Chr11:11p15.5
benign
NM_002458.3(MUC5B):c.10403G>C (p.Arg3468Pro) single nucleotide variant not provided [RCV001675899]|not specified [RCV000455179] Chr11:1247283 [GRCh38]
Chr11:1268513 [GRCh37]
Chr11:11p15.5
benign
NM_002458.3(MUC5B):c.9143C>T (p.Ala3048Val) single nucleotide variant not provided [RCV004705591]|not specified [RCV000455248] Chr11:1246023 [GRCh38]
Chr11:1267253 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.11597C>T (p.Pro3866Leu) single nucleotide variant not provided [RCV001637026]|not specified [RCV000455268] Chr11:1248477 [GRCh38]
Chr11:1269707 [GRCh37]
Chr11:11p15.5
benign
NM_002458.3(MUC5B):c.3186G>A (p.Pro1062=) single nucleotide variant not specified [RCV000455283] Chr11:1237053 [GRCh38]
Chr11:1258283 [GRCh37]
Chr11:11p15.5
benign
NM_002458.3(MUC5B):c.9578T>C (p.Leu3193Pro) single nucleotide variant not provided [RCV004718668]|not specified [RCV000455286] Chr11:1246458 [GRCh38]
Chr11:1267688 [GRCh37]
Chr11:11p15.5
benign
NM_002458.3(MUC5B):c.5647A>G (p.Ser1883Gly) single nucleotide variant not provided [RCV004718663]|not specified [RCV000455320] Chr11:1242527 [GRCh38]
Chr11:1263757 [GRCh37]
Chr11:11p15.5
benign
NM_002458.3(MUC5B):c.9215T>C (p.Phe3072Ser) single nucleotide variant not provided [RCV001672767]|not specified [RCV000455326] Chr11:1246095 [GRCh38]
Chr11:1267325 [GRCh37]
Chr11:11p15.5
benign
NM_002458.3(MUC5B):c.8586A>C (p.Pro2862=) single nucleotide variant not provided [RCV001683495]|not specified [RCV000455341] Chr11:1245466 [GRCh38]
Chr11:1266696 [GRCh37]
Chr11:11p15.5
benign
NM_002458.3(MUC5B):c.6073G>A (p.Ala2025Thr) single nucleotide variant not provided [RCV001707694]|not specified [RCV000455362] Chr11:1242953 [GRCh38]
Chr11:1264183 [GRCh37]
Chr11:11p15.5
benign
NM_002458.3(MUC5B):c.13924A>G (p.Ile4642Val) single nucleotide variant not provided [RCV004705595]|not specified [RCV000455381] Chr11:1250804 [GRCh38]
Chr11:1272034 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.11913T>C (p.Pro3971=) single nucleotide variant not provided [RCV004705592]|not specified [RCV000455426] Chr11:1248793 [GRCh38]
Chr11:1270023 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.12967G>T (p.Val4323Phe) single nucleotide variant not provided [RCV004718673]|not specified [RCV000455442] Chr11:1249847 [GRCh38]
Chr11:1271077 [GRCh37]
Chr11:11p15.5
benign
NM_002458.3(MUC5B):c.7663del (p.Thr2555fs) deletion not specified [RCV000455530] Chr11:1244543 [GRCh38]
Chr11:1265773 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.8709G>A (p.Ala2903=) single nucleotide variant not provided [RCV003424005]|not specified [RCV000455549] Chr11:1245589 [GRCh38]
Chr11:1266819 [GRCh37]
Chr11:11p15.5
benign|likely benign
NM_002458.3(MUC5B):c.14584G>A (p.Gly4862Ser) single nucleotide variant not provided [RCV004705597]|not specified [RCV000455576] Chr11:1251464 [GRCh38]
Chr11:1272694 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.14116A>C (p.Thr4706Pro) single nucleotide variant not provided [RCV001637027]|not specified [RCV000455587] Chr11:1250996 [GRCh38]
Chr11:1272226 [GRCh37]
Chr11:11p15.5
benign
NM_002458.3(MUC5B):c.13398G>A (p.Thr4466=) single nucleotide variant not provided [RCV001618698]|not specified [RCV000455635] Chr11:1250278 [GRCh38]
Chr11:1271508 [GRCh37]
Chr11:11p15.5
benign
NM_002458.3(MUC5B):c.6521A>G (p.Asn2174Ser) single nucleotide variant not provided [RCV001613276]|not specified [RCV000455636] Chr11:1243401 [GRCh38]
Chr11:1264631 [GRCh37]
Chr11:11p15.5
benign
NM_002458.3(MUC5B):c.9850A>G (p.Thr3284Ala) single nucleotide variant not provided [RCV001721493]|not specified [RCV000455653] Chr11:1246730 [GRCh38]
Chr11:1267960 [GRCh37]
Chr11:11p15.5
benign
NM_002458.3(MUC5B):c.6632G>C (p.Arg2211Pro) single nucleotide variant not provided [RCV001683494]|not specified [RCV000455681] Chr11:1243512 [GRCh38]
Chr11:1264742 [GRCh37]
Chr11:11p15.5
benign
NM_002458.3(MUC5B):c.9617T>C (p.Ile3206Thr) single nucleotide variant not provided [RCV004718671]|not specified [RCV000455687] Chr11:1246497 [GRCh38]
Chr11:1267727 [GRCh37]
Chr11:11p15.5
benign
NM_002458.3(MUC5B):c.11517C>T (p.Thr3839=) single nucleotide variant not provided [RCV001724009]|not specified [RCV000455763] Chr11:1248397 [GRCh38]
Chr11:1269627 [GRCh37]
Chr11:11p15.5
benign
NM_002458.3(MUC5B):c.3189C>T (p.Asp1063=) single nucleotide variant not specified [RCV000455784] Chr11:1237056 [GRCh38]
Chr11:1258286 [GRCh37]
Chr11:11p15.5
benign
NM_002458.3(MUC5B):c.8606T>C (p.Met2869Thr) single nucleotide variant not provided [RCV001613277]|not specified [RCV000455802] Chr11:1245486 [GRCh38]
Chr11:1266716 [GRCh37]
Chr11:11p15.5
benign
NM_002458.3(MUC5B):c.10821A>C (p.Ala3607=) single nucleotide variant not provided [RCV001618697]|not specified [RCV000455811] Chr11:1247701 [GRCh38]
Chr11:1268931 [GRCh37]
Chr11:11p15.5
benign
NM_002458.3(MUC5B):c.9010G>A (p.Ala3004Thr) single nucleotide variant not provided [RCV004705589]|not specified [RCV000455829] Chr11:1245890 [GRCh38]
Chr11:1267120 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.2034A>G (p.Val678=) single nucleotide variant not specified [RCV000455831] Chr11:1232739 [GRCh38]
Chr11:1253969 [GRCh37]
Chr11:11p15.5
benign
NM_002458.3(MUC5B):c.9179A>C (p.Lys3060Thr) single nucleotide variant not provided [RCV004707290]|not specified [RCV000455836] Chr11:1246059 [GRCh38]
Chr11:1267289 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.6855G>A (p.Thr2285=) single nucleotide variant not provided [RCV001618696]|not specified [RCV000455846] Chr11:1243735 [GRCh38]
Chr11:1264965 [GRCh37]
Chr11:11p15.5
benign
NM_002458.3(MUC5B):c.7877C>G (p.Thr2626Arg) single nucleotide variant not provided [RCV001707695]|not specified [RCV000455850] Chr11:1244757 [GRCh38]
Chr11:1265987 [GRCh37]
Chr11:11p15.5
benign
NM_002458.3(MUC5B):c.10498A>G (p.Ser3500Gly) single nucleotide variant not provided [RCV001683496]|not specified [RCV000455866] Chr11:1247378 [GRCh38]
Chr11:1268608 [GRCh37]
Chr11:11p15.5
benign
NM_002458.3(MUC5B):c.9593G>C (p.Ser3198Thr) single nucleotide variant not provided [RCV004718669]|not specified [RCV000455913] Chr11:1246473 [GRCh38]
Chr11:1267703 [GRCh37]
Chr11:11p15.5
benign
NM_002458.3(MUC5B):c.13211C>G (p.Ala4404Gly) single nucleotide variant not provided [RCV001653802]|not specified [RCV000455931] Chr11:1250091 [GRCh38]
Chr11:1271321 [GRCh37]
Chr11:11p15.5
benign
NM_002458.3(MUC5B):c.13751C>T (p.Thr4584Ile) single nucleotide variant not provided [RCV004718674]|not specified [RCV000455935] Chr11:1250631 [GRCh38]
Chr11:1271861 [GRCh37]
Chr11:11p15.5
benign
NM_002458.3(MUC5B):c.5666C>T (p.Pro1889Leu) single nucleotide variant not provided [RCV001597139]|not specified [RCV000455944] Chr11:1242546 [GRCh38]
Chr11:1263776 [GRCh37]
Chr11:11p15.5
benign
NM_002458.3(MUC5B):c.6182C>T (p.Ala2061Val) single nucleotide variant not provided [RCV001618695]|not specified [RCV000455950] Chr11:1243062 [GRCh38]
Chr11:1264292 [GRCh37]
Chr11:11p15.5
benign
NM_002458.3(MUC5B):c.14586T>C (p.Gly4862=) single nucleotide variant not provided [RCV003884542]|not specified [RCV000455951] Chr11:1251466 [GRCh38]
Chr11:1272696 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.9452C>T (p.Thr3151Met) single nucleotide variant not provided [RCV001643153]|not specified [RCV000455958] Chr11:1246332 [GRCh38]
Chr11:1267562 [GRCh37]
Chr11:11p15.5
benign
NM_002458.3(MUC5B):c.11725G>A (p.Val3909Ile) single nucleotide variant not provided [RCV001662411]|not specified [RCV000455976] Chr11:1248605 [GRCh38]
Chr11:1269835 [GRCh37]
Chr11:11p15.5
benign
NM_002458.3(MUC5B):c.13124C>T (p.Ala4375Val) single nucleotide variant not provided [RCV004705593]|not specified [RCV000455994] Chr11:1250004 [GRCh38]
Chr11:1271234 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.14484A>G (p.Thr4828=) single nucleotide variant not provided [RCV003424006]|not specified [RCV000455997] Chr11:1251364 [GRCh38]
Chr11:1272594 [GRCh37]
Chr11:11p15.5
likely benign
GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3 copy number gain See cases [RCV000511561] Chr11:230615..37698540 [GRCh37]
Chr11:11p15.5-12
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) copy number gain See cases [RCV000511729] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 copy number gain See cases [RCV000510881] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
NM_002458.3(MUC5B):c.8120C>A (p.Ser2707Tyr) single nucleotide variant not specified [RCV004307045] Chr11:1245000 [GRCh38]
Chr11:1266230 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.11041G>A (p.Ala3681Thr) single nucleotide variant not specified [RCV004304372] Chr11:1247921 [GRCh38]
Chr11:1269151 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.4103G>A (p.Gly1368Glu) single nucleotide variant not specified [RCV004290578] Chr11:1240983 [GRCh38]
Chr11:1262213 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.10627G>A (p.Ala3543Thr) single nucleotide variant not specified [RCV004316927] Chr11:1247507 [GRCh38]
Chr11:1268737 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.9448C>T (p.Pro3150Ser) single nucleotide variant not specified [RCV004290333] Chr11:1246328 [GRCh38]
Chr11:1267558 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.13717G>A (p.Gly4573Arg) single nucleotide variant not specified [RCV004295230] Chr11:1250597 [GRCh38]
Chr11:1271827 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.2245G>A (p.Ala749Thr) single nucleotide variant not specified [RCV004292711] Chr11:1233192 [GRCh38]
Chr11:1254422 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.9941C>T (p.Thr3314Met) single nucleotide variant not specified [RCV004333836] Chr11:1246821 [GRCh38]
Chr11:1268051 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.3846C>T (p.Gly1282=) single nucleotide variant not provided [RCV000966221]|not specified [RCV000604604] Chr11:1240251 [GRCh38]
Chr11:1261481 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.9722C>T (p.Pro3241Leu) single nucleotide variant not specified [RCV004318087] Chr11:1246602 [GRCh38]
Chr11:1267832 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.14282C>T (p.Thr4761Met) single nucleotide variant not specified [RCV004329072] Chr11:1251162 [GRCh38]
Chr11:1272392 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.15704G>T (p.Arg5235Leu) single nucleotide variant not specified [RCV004305997] Chr11:1255080 [GRCh38]
Chr11:1276310 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.4735T>G (p.Trp1579Gly) single nucleotide variant not specified [RCV004299686] Chr11:1241615 [GRCh38]
Chr11:1262845 [GRCh37]
Chr11:11p15.5
uncertain significance
GRCh37/hg19 11p15.5-15.3(chr11:193146-12643136) copy number gain Silver-Russell syndrome 1 [RCV000767567] Chr11:193146..12643136 [GRCh37]
Chr11:11p15.5-15.3
pathogenic
NM_002458.3(MUC5B):c.1462G>A (p.Gly488Arg) single nucleotide variant not specified [RCV004295277] Chr11:1230592 [GRCh38]
Chr11:1251822 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.5850C>G (p.Ser1950Arg) single nucleotide variant not specified [RCV004312279] Chr11:1242730 [GRCh38]
Chr11:1263960 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.2110G>A (p.Val704Met) single nucleotide variant not specified [RCV004301965] Chr11:1233057 [GRCh38]
Chr11:1254287 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.9709G>A (p.Val3237Ile) single nucleotide variant not specified [RCV004297825] Chr11:1246589 [GRCh38]
Chr11:1267819 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.9242C>T (p.Pro3081Leu) single nucleotide variant not specified [RCV004308615] Chr11:1246122 [GRCh38]
Chr11:1267352 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.12901A>T (p.Ser4301Cys) single nucleotide variant not specified [RCV004288229] Chr11:1249781 [GRCh38]
Chr11:1271011 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.9316T>C (p.Ser3106Pro) single nucleotide variant not specified [RCV004297258] Chr11:1246196 [GRCh38]
Chr11:1267426 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.3584-10C>T single nucleotide variant not provided [RCV004707356]|not specified [RCV000612325] Chr11:1239789 [GRCh38]
Chr11:1261019 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.3926C>T (p.Thr1309Met) single nucleotide variant Interstitial lung disease 2 [RCV002476349]|not specified [RCV000612676] Chr11:1240331 [GRCh38]
Chr11:1261561 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.845C>A (p.Ala282Glu) single nucleotide variant not specified [RCV000615594] Chr11:1228634 [GRCh38]
Chr11:1249864 [GRCh37]
Chr11:11p15.5
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002458.3(MUC5B):c.3834C>T (p.Thr1278=) single nucleotide variant Interstitial lung disease 2 [RCV002506450]|not provided [RCV000947311]|not specified [RCV000615977] Chr11:1240239 [GRCh38]
Chr11:1261469 [GRCh37]
Chr11:11p15.5
benign|likely benign
NM_002458.3(MUC5B):c.2470G>A (p.Val824Met) single nucleotide variant MUC5B-related disorder [RCV004758931]|not specified [RCV004305991] Chr11:1234297 [GRCh38]
Chr11:1255527 [GRCh37]
Chr11:11p15.5
likely benign|uncertain significance
NM_002458.3(MUC5B):c.8996C>T (p.Ala2999Val) single nucleotide variant not specified [RCV004325074] Chr11:1245876 [GRCh38]
Chr11:1267106 [GRCh37]
Chr11:11p15.5
uncertain significance
GRCh37/hg19 11p15.5-14.3(chr11:230615-25584362)x3 copy number gain See cases [RCV000512225] Chr11:230615..25584362 [GRCh37]
Chr11:11p15.5-14.3
pathogenic
GRCh37/hg19 11p15.5-13(chr11:230615-31995219)x3 copy number gain See cases [RCV000512477] Chr11:230615..31995219 [GRCh37]
Chr11:11p15.5-13
pathogenic
GRCh37/hg19 11p15.5-15.1(chr11:230615-17099213)x3 copy number gain not provided [RCV000683372] Chr11:230615..17099213 [GRCh37]
Chr11:11p15.5-15.1
pathogenic
GRCh37/hg19 11p15.5-15.4(chr11:230615-9704511)x3 copy number gain not provided [RCV000683369] Chr11:230615..9704511 [GRCh37]
Chr11:11p15.5-15.4
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 copy number gain not provided [RCV000737348] Chr11:198510..134934063 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 copy number gain not provided [RCV000749874] Chr11:70864..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11p15.5(chr11:1027811-1302707)x0 copy number loss not provided [RCV000749892] Chr11:1027811..1302707 [GRCh37]
Chr11:11p15.5
benign
NC_000011.10:g.1222830G>A single nucleotide variant not provided [RCV001610899] Chr11:1222830 [GRCh38]
Chr11:1244060 [GRCh37]
Chr11:11p15.5
benign
NM_002458.3(MUC5B):c.14599G>A (p.Ala4867Thr) single nucleotide variant not provided [RCV001690961] Chr11:1251479 [GRCh38]
Chr11:1272709 [GRCh37]
Chr11:11p15.5
benign
NM_002458.3(MUC5B):c.775-258G>T single nucleotide variant not provided [RCV001645733] Chr11:1228306 [GRCh38]
Chr11:1249536 [GRCh37]
Chr11:11p15.5
benign
NM_002458.3(MUC5B):c.492C>T (p.Leu164=) single nucleotide variant not provided [RCV000893747] Chr11:1227061 [GRCh38]
Chr11:1248291 [GRCh37]
Chr11:11p15.5
benign
NM_002458.3(MUC5B):c.15217+278G>A single nucleotide variant not provided [RCV001667401] Chr11:1253258 [GRCh38]
Chr11:1274488 [GRCh37]
Chr11:11p15.5
benign
NM_002458.3(MUC5B):c.1102+58C>T single nucleotide variant not provided [RCV001692880] Chr11:1229353 [GRCh38]
Chr11:1250583 [GRCh37]
Chr11:11p15.5
benign
NM_002458.3(MUC5B):c.2786A>C (p.Asn929Thr) single nucleotide variant not provided [RCV000894031] Chr11:1235319 [GRCh38]
Chr11:1256549 [GRCh37]
Chr11:11p15.5
benign
NM_002458.3(MUC5B):c.16984A>G (p.Ile5662Val) single nucleotide variant not provided [RCV000894065] Chr11:1260643 [GRCh38]
Chr11:1281873 [GRCh37]
Chr11:11p15.5
benign
NM_002458.3(MUC5B):c.16450+116C>T single nucleotide variant not provided [RCV001666761] Chr11:1257826 [GRCh38]
Chr11:1279056 [GRCh37]
Chr11:11p15.5
benign
NM_002458.3(MUC5B):c.13056C>A (p.His4352Gln) single nucleotide variant not specified [RCV004317247] Chr11:1249936 [GRCh38]
Chr11:1271166 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.144G>A (p.Ser48=) single nucleotide variant not provided [RCV000937288] Chr11:1226221 [GRCh38]
Chr11:1247451 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.2230G>A (p.Gly744Ser) single nucleotide variant not provided [RCV000959708] Chr11:1233177 [GRCh38]
Chr11:1254407 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.2271C>T (p.His757=) single nucleotide variant not provided [RCV000881360] Chr11:1233218 [GRCh38]
Chr11:1254448 [GRCh37]
Chr11:11p15.5
benign
NC_000011.9:g.(?_532616)_(2906985_?)dup duplication Neuronal ceroid lipofuscinosis [RCV001032557] Chr11:532616..2906985 [GRCh37]
Chr11:11p15.5-15.4
uncertain significance
NM_002458.3(MUC5B):c.16806T>C (p.Asn5602=) single nucleotide variant not provided [RCV000894032] Chr11:1259968 [GRCh38]
Chr11:1281198 [GRCh37]
Chr11:11p15.5
benign
NM_002458.3(MUC5B):c.15939C>T (p.Asn5313=) single nucleotide variant MUC5B-related disorder [RCV004758750]|not provided [RCV000898641] Chr11:1255431 [GRCh38]
Chr11:1276661 [GRCh37]
Chr11:11p15.5
benign|likely benign
NM_002458.3(MUC5B):c.127+9C>T single nucleotide variant not provided [RCV000959158] Chr11:1225746 [GRCh38]
Chr11:1246976 [GRCh37]
Chr11:11p15.5
benign
NM_002458.3(MUC5B):c.2769+8G>A single nucleotide variant not provided [RCV000943407] Chr11:1235231 [GRCh38]
Chr11:1256461 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.16924-5A>C single nucleotide variant not provided [RCV000894034] Chr11:1260346 [GRCh38]
Chr11:1281576 [GRCh37]
Chr11:11p15.5
benign
NM_002458.3(MUC5B):c.16996A>G (p.Ile5666Val) single nucleotide variant not provided [RCV000894066] Chr11:1260655 [GRCh38]
Chr11:1260655..1260656 [GRCh38]
Chr11:1281885 [GRCh37]
Chr11:1281885..1281886 [GRCh37]
Chr11:11p15.5
benign
NM_002458.3(MUC5B):c.3765C>T (p.Ser1255=) single nucleotide variant not provided [RCV000883317] Chr11:1240081 [GRCh38]
Chr11:1261311 [GRCh37]
Chr11:11p15.5
benign
NM_002458.3(MUC5B):c.12929T>G (p.Val4310Gly) single nucleotide variant not specified [RCV004282525] Chr11:1249809 [GRCh38]
Chr11:1271039 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.5581G>A (p.Asp1861Asn) single nucleotide variant not specified [RCV004307282] Chr11:1242461 [GRCh38]
Chr11:1263691 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.3016C>T (p.Arg1006Trp) single nucleotide variant not specified [RCV004300098] Chr11:1236521 [GRCh38]
Chr11:1257751 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.2769+10C>G single nucleotide variant not provided [RCV000959160] Chr11:1235233 [GRCh38]
Chr11:1256463 [GRCh37]
Chr11:11p15.5
benign
NM_002458.3(MUC5B):c.3483T>C (p.His1161=) single nucleotide variant not specified [RCV000825189] Chr11:1239466 [GRCh38]
Chr11:1260696 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.15826G>T (p.Val5276Leu) single nucleotide variant not provided [RCV000966389]|not specified [RCV000825190] Chr11:1255202 [GRCh38]
Chr11:1276432 [GRCh37]
Chr11:11p15.5
benign|likely benign
NM_002458.3(MUC5B):c.16859C>T (p.Ala5620Val) single nucleotide variant Interstitial lung disease 2 [RCV002495408]|not provided [RCV000894033] Chr11:1260021 [GRCh38]
Chr11:1281251 [GRCh37]
Chr11:11p15.5
benign
NM_002458.3(MUC5B):c.16450+9C>G single nucleotide variant not provided [RCV000959163] Chr11:1257719 [GRCh38]
Chr11:1278949 [GRCh37]
Chr11:11p15.5
benign
NM_002458.3(MUC5B):c.941G>T (p.Gly314Val) single nucleotide variant not specified [RCV004301478] Chr11:1228730 [GRCh38]
Chr11:1249960 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.11579C>G (p.Ala3860Gly) single nucleotide variant not specified [RCV004304034] Chr11:1248459 [GRCh38]
Chr11:1269689 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.4159G>A (p.Asp1387Asn) single nucleotide variant not specified [RCV004297997] Chr11:1241039 [GRCh38]
Chr11:1262269 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.5047C>T (p.Pro1683Ser) single nucleotide variant not specified [RCV004304628] Chr11:1241927 [GRCh38]
Chr11:1263157 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.12428C>A (p.Pro4143His) single nucleotide variant not specified [RCV004315766] Chr11:1249308 [GRCh38]
Chr11:1270538 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.15919C>T (p.Pro5307Ser) single nucleotide variant not specified [RCV004308348] Chr11:1255411 [GRCh38]
Chr11:1276641 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.1439C>T (p.Ala480Val) single nucleotide variant not specified [RCV004288845] Chr11:1230569 [GRCh38]
Chr11:1251799 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.13564T>G (p.Phe4522Val) single nucleotide variant not specified [RCV004293881] Chr11:1250444 [GRCh38]
Chr11:1271674 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.328G>A (p.Ala110Thr) single nucleotide variant not specified [RCV004292982] Chr11:1226743 [GRCh38]
Chr11:1247973 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.10222T>C (p.Ser3408Pro) single nucleotide variant not specified [RCV004296184] Chr11:1247102 [GRCh38]
Chr11:1268332 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.5198C>T (p.Ala1733Val) single nucleotide variant not specified [RCV004296185] Chr11:1242078 [GRCh38]
Chr11:1263308 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.13841C>T (p.Thr4614Met) single nucleotide variant not specified [RCV004295643] Chr11:1250721 [GRCh38]
Chr11:1271951 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.977-16A>G single nucleotide variant not provided [RCV001684358] Chr11:1229154 [GRCh38]
Chr11:1250384 [GRCh37]
Chr11:11p15.5
benign
NM_002458.3(MUC5B):c.9392C>T (p.Thr3131Met) single nucleotide variant not provided [RCV001654054] Chr11:1246272 [GRCh38]
Chr11:1267502 [GRCh37]
Chr11:11p15.5
benign
NC_000011.10:g.1222967G>A single nucleotide variant not provided [RCV001687037] Chr11:1222967 [GRCh38]
Chr11:1244197 [GRCh37]
Chr11:11p15.5
benign
NM_002458.3(MUC5B):c.3058-94C>T single nucleotide variant not provided [RCV001651477] Chr11:1236831 [GRCh38]
Chr11:1258061 [GRCh37]
Chr11:11p15.5
benign
NM_002458.3(MUC5B):c.14644A>G (p.Thr4882Ala) single nucleotide variant not provided [RCV001613688] Chr11:1251524 [GRCh38]
Chr11:1272754 [GRCh37]
Chr11:11p15.5
benign
NM_002458.3(MUC5B):c.3057+75T>C single nucleotide variant not provided [RCV001646078] Chr11:1236637 [GRCh38]
Chr11:1257867 [GRCh37]
Chr11:11p15.5
benign
NM_002458.3(MUC5B):c.15045+79T>C single nucleotide variant not provided [RCV001680149] Chr11:1252603 [GRCh38]
Chr11:1273833 [GRCh37]
Chr11:11p15.5
benign
NM_002458.3(MUC5B):c.15477+71C>T single nucleotide variant not provided [RCV001682600] Chr11:1254422 [GRCh38]
Chr11:1275652 [GRCh37]
Chr11:11p15.5
benign
NM_002458.3(MUC5B):c.2881-157G>A single nucleotide variant not provided [RCV001714008] Chr11:1236229 [GRCh38]
Chr11:1257459 [GRCh37]
Chr11:11p15.5
benign
NM_002458.3(MUC5B):c.2321+101T>C single nucleotide variant not provided [RCV001620637] Chr11:1233369 [GRCh38]
Chr11:1254599 [GRCh37]
Chr11:11p15.5
benign
NM_002458.3(MUC5B):c.2065+38G>A single nucleotide variant not provided [RCV001644009] Chr11:1232808 [GRCh38]
Chr11:1254038 [GRCh37]
Chr11:11p15.5
benign
NM_002458.3(MUC5B):c.15788C>T (p.Pro5263Leu) single nucleotide variant not specified [RCV004292794] Chr11:1255164 [GRCh38]
Chr11:1276394 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.4034A>G (p.Asn1345Ser) single nucleotide variant not specified [RCV004292797] Chr11:1240914 [GRCh38]
Chr11:1262144 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.12569T>C (p.Val4190Ala) single nucleotide variant not specified [RCV004310410] Chr11:1249449 [GRCh38]
Chr11:1270679 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.1887C>A (p.Asn629Lys) single nucleotide variant not provided [RCV000979222] Chr11:1232493 [GRCh38]
Chr11:1253723 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.2316C>T (p.Ala772=) single nucleotide variant not provided [RCV000919457] Chr11:1233263 [GRCh38]
Chr11:1254493 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.3945C>T (p.Thr1315=) single nucleotide variant not provided [RCV000959161] Chr11:1240350 [GRCh38]
Chr11:1261580 [GRCh37]
Chr11:11p15.5
benign
NM_002458.3(MUC5B):c.2331G>A (p.Thr777=) single nucleotide variant not provided [RCV000959159] Chr11:1233802 [GRCh38]
Chr11:1255032 [GRCh37]
Chr11:11p15.5
benign
NM_002458.3(MUC5B):c.15789G>A (p.Pro5263=) single nucleotide variant not provided [RCV000959162] Chr11:1255165 [GRCh38]
Chr11:1276395 [GRCh37]
Chr11:11p15.5
benign
NM_002458.3(MUC5B):c.16272C>T (p.Pro5424=) single nucleotide variant not provided [RCV000894933] Chr11:1257532 [GRCh38]
Chr11:1278762 [GRCh37]
Chr11:11p15.5
benign
NM_002458.3(MUC5B):c.977-5C>T single nucleotide variant not provided [RCV000891405] Chr11:1229165 [GRCh38]
Chr11:1250395 [GRCh37]
Chr11:11p15.5
benign|likely benign
NM_002458.3(MUC5B):c.2208G>A (p.Ala736=) single nucleotide variant not provided [RCV000913754] Chr11:1233155 [GRCh38]
Chr11:1254385 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.450C>T (p.Ile150=) single nucleotide variant not provided [RCV000933791] Chr11:1226865 [GRCh38]
Chr11:1248095 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.16018G>A (p.Ala5340Thr) single nucleotide variant not provided [RCV000889686] Chr11:1255510 [GRCh38]
Chr11:1276740 [GRCh37]
Chr11:11p15.5
benign
NM_002458.3(MUC5B):c.16189G>A (p.Asp5397Asn) single nucleotide variant not provided [RCV000913026] Chr11:1256723 [GRCh38]
Chr11:1277953 [GRCh37]
Chr11:11p15.5
benign
NM_002458.3(MUC5B):c.6743C>T (p.Ser2248Leu) single nucleotide variant not specified [RCV004138989] Chr11:1243623 [GRCh38]
Chr11:1264853 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.7312G>A (p.Glu2438Lys) single nucleotide variant not provided [RCV001656761] Chr11:1244192 [GRCh38]
Chr11:1265422 [GRCh37]
Chr11:11p15.5
benign
NM_002458.3(MUC5B):c.1102+171C>T single nucleotide variant not provided [RCV001597928] Chr11:1229466 [GRCh38]
Chr11:1250696 [GRCh37]
Chr11:11p15.5
benign
NM_002458.3(MUC5B):c.8668C>T (p.Pro2890Ser) single nucleotide variant not provided [RCV001637418] Chr11:1245548 [GRCh38]
Chr11:1266778 [GRCh37]
Chr11:11p15.5
benign
NM_002458.3(MUC5B):c.977-179G>A single nucleotide variant not provided [RCV001598114] Chr11:1228991 [GRCh38]
Chr11:1250221 [GRCh37]
Chr11:11p15.5
benign
NM_002458.3(MUC5B):c.12272C>G (p.Thr4091Arg) single nucleotide variant not provided [RCV001677773] Chr11:1249152 [GRCh38]
Chr11:1270382 [GRCh37]
Chr11:11p15.5
benign
NM_002458.3(MUC5B):c.13929G>A (p.Pro4643=) single nucleotide variant not provided [RCV001682122] Chr11:1250809 [GRCh38]
Chr11:1272039 [GRCh37]
Chr11:11p15.5
benign
GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3 copy number gain not provided [RCV001006372] Chr11:235934..33826995 [GRCh37]
Chr11:11p15.5-13
pathogenic
NM_002458.3(MUC5B):c.14135C>T (p.Thr4712Met) single nucleotide variant not provided [RCV001656764] Chr11:1251015 [GRCh38]
Chr11:1272245 [GRCh37]
Chr11:11p15.5
benign
NM_002458.3(MUC5B):c.976+188A>G single nucleotide variant not provided [RCV001687424] Chr11:1228953 [GRCh38]
Chr11:1250183 [GRCh37]
Chr11:11p15.5
benign
NM_002458.3(MUC5B):c.577-47T>G single nucleotide variant not provided [RCV001716617] Chr11:1227261 [GRCh38]
Chr11:1248491 [GRCh37]
Chr11:11p15.5
benign
NM_002458.3(MUC5B):c.667+103A>G single nucleotide variant not provided [RCV001654725] Chr11:1227501 [GRCh38]
Chr11:1248731 [GRCh37]
Chr11:11p15.5
benign
NM_002458.3(MUC5B):c.1102+78G>C single nucleotide variant not provided [RCV001608518] Chr11:1229373 [GRCh38]
Chr11:1250603 [GRCh37]
Chr11:11p15.5
benign
NM_002458.3(MUC5B):c.977-158G>T single nucleotide variant not provided [RCV001662932] Chr11:1229012 [GRCh38]
Chr11:1250242 [GRCh37]
Chr11:11p15.5
benign
NM_002458.3(MUC5B):c.9365T>C (p.Met3122Thr) single nucleotide variant not provided [RCV001661201] Chr11:1246245 [GRCh38]
Chr11:1267475 [GRCh37]
Chr11:11p15.5
benign
NM_002458.3(MUC5B):c.3970+35C>T single nucleotide variant not provided [RCV001655414] Chr11:1240410 [GRCh38]
Chr11:1261640 [GRCh37]
Chr11:11p15.5
benign
NM_002458.3(MUC5B):c.1102+154C>T single nucleotide variant not provided [RCV001677962] Chr11:1229449 [GRCh38]
Chr11:1250679 [GRCh37]
Chr11:11p15.5
benign
NM_002458.3(MUC5B):c.1471-119T>C single nucleotide variant not provided [RCV001669754] Chr11:1230817 [GRCh38]
Chr11:1252047 [GRCh37]
Chr11:11p15.5
benign
NM_002458.3(MUC5B):c.4415C>T (p.Pro1472Leu) single nucleotide variant MUC5B-related disorder [RCV004758819]|not provided [RCV001620846] Chr11:1241295 [GRCh38]
Chr11:1262525 [GRCh37]
Chr11:11p15.5
benign
NM_002458.3(MUC5B):c.5413G>A (p.Gly1805Ser) single nucleotide variant not provided [RCV001656930] Chr11:1242293 [GRCh38]
Chr11:1263523 [GRCh37]
Chr11:11p15.5
benign
NC_000011.9:g.(?_612625)_(2193840_?)dup duplication Immunodeficiency 39 [RCV001033372] Chr11:612625..2193840 [GRCh37]
Chr11:11p15.5
uncertain significance
NC_000011.10:g.1222850C>G single nucleotide variant not provided [RCV001615794] Chr11:1222850 [GRCh38]
Chr11:1244080 [GRCh37]
Chr11:11p15.5
benign
NM_002458.3(MUC5B):c.16555+53A>G single nucleotide variant not provided [RCV001714750] Chr11:1258256 [GRCh38]
Chr11:1279486 [GRCh37]
Chr11:11p15.5
benign
NC_000011.10:g.1222989T>C single nucleotide variant not provided [RCV001724660] Chr11:1222989 [GRCh38]
Chr11:1244219 [GRCh37]
Chr11:11p15.5
benign
NM_002458.3(MUC5B):c.11288C>T (p.Thr3763Ile) single nucleotide variant not provided [RCV001724663] Chr11:1248168 [GRCh38]
Chr11:1269398 [GRCh37]
Chr11:11p15.5
benign
NM_002458.3(MUC5B):c.1103-117G>A single nucleotide variant not provided [RCV001645874] Chr11:1229573 [GRCh38]
Chr11:1250803 [GRCh37]
Chr11:11p15.5
benign
NM_002458.3(MUC5B):c.2322-83G>A single nucleotide variant not provided [RCV001614230] Chr11:1233710 [GRCh38]
Chr11:1254940 [GRCh37]
Chr11:11p15.5
benign
NM_002458.3(MUC5B):c.1939-18T>C single nucleotide variant not provided [RCV001670528] Chr11:1232626 [GRCh38]
Chr11:1253856 [GRCh37]
Chr11:11p15.5
benign
NM_002458.3(MUC5B):c.2631-198G>A single nucleotide variant not provided [RCV001612360] Chr11:1234887 [GRCh38]
Chr11:1256117 [GRCh37]
Chr11:11p15.5
benign
NM_002458.3(MUC5B):c.462-64G>T single nucleotide variant not provided [RCV001696001] Chr11:1226967 [GRCh38]
Chr11:1248197 [GRCh37]
Chr11:11p15.5
benign
NM_002458.3(MUC5B):c.667+95C>T single nucleotide variant not provided [RCV001689420] Chr11:1227493 [GRCh38]
Chr11:1248723 [GRCh37]
Chr11:11p15.5
benign
GRCh37/hg19 11p15.5-15.4(chr11:230615-4851537)x3 copy number gain See cases [RCV001263059] Chr11:230615..4851537 [GRCh37]
Chr11:11p15.5-15.4
pathogenic
GRCh37/hg19 11p15.5-15.4(chr11:210300-8664358)x3 copy number gain Silver-Russell syndrome 1 [RCV001263222] Chr11:210300..8664358 [GRCh37]
Chr11:11p15.5-15.4
pathogenic
NM_002458.3(MUC5B):c.8063C>T (p.Pro2688Leu) single nucleotide variant not provided [RCV004597632] Chr11:1244943 [GRCh38]
Chr11:1266173 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.11648C>T (p.Thr3883Met) single nucleotide variant not provided [RCV004597633] Chr11:1248528 [GRCh38]
Chr11:1269758 [GRCh37]
Chr11:11p15.5
likely benign
NC_000011.9:g.(?_612625)_(2193840_?)dup duplication Autosomal recessive DOPA responsive dystonia [RCV001301561]|Immunodeficiency 39 [RCV001033372] Chr11:612625..2193840 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.9849G>A (p.Thr3283=) single nucleotide variant Interstitial lung disease 2 [RCV001336472] Chr11:1246729 [GRCh38]
Chr11:1267959 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.1974C>T (p.Ser658=) single nucleotide variant not provided [RCV004597684] Chr11:1232679 [GRCh38]
Chr11:1253909 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.7599_7676del (p.Ser2536_Thr2561del) deletion not provided [RCV004598695] Chr11:1244466..1244543 [GRCh38]
Chr11:1265696..1265773 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.2045A>G (p.Asp682Gly) single nucleotide variant Interstitial lung disease 2 [RCV001376074] Chr11:1232750 [GRCh38]
Chr11:1253980 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.2725G>A (p.Asp909Asn) single nucleotide variant Interstitial lung disease 2 [RCV001332134] Chr11:1235179 [GRCh38]
Chr11:1256409 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.14990C>T (p.Pro4997Leu) single nucleotide variant not provided [RCV001358650] Chr11:1252469 [GRCh38]
Chr11:1273699 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.9005C>A (p.Thr3002Lys) single nucleotide variant Interstitial lung disease 2 [RCV001336470]|not provided [RCV004692572] Chr11:1245885 [GRCh38]
Chr11:1267115 [GRCh37]
Chr11:11p15.5
conflicting interpretations of pathogenicity|uncertain significance
NC_000011.9:g.(?_298501)_(4113028_?)dup duplication Early infantile epileptic encephalopathy with suppression bursts [RCV001316682] Chr11:298501..4113028 [GRCh37]
Chr11:11p15.5-15.4
uncertain significance
NM_002458.3(MUC5B):c.4427C>T (p.Ser1476Leu) single nucleotide variant not provided [RCV001358526]|not specified [RCV004034504] Chr11:1241307 [GRCh38]
Chr11:1262537 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.13164G>T (p.Thr4388=) single nucleotide variant Interstitial lung disease 2 [RCV002486493]|not provided [RCV001358620] Chr11:1250044 [GRCh38]
Chr11:1271274 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.9355A>G (p.Thr3119Ala) single nucleotide variant Interstitial lung disease 2 [RCV001336471] Chr11:1246235 [GRCh38]
Chr11:1267465 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.1994C>T (p.Ala665Val) single nucleotide variant not provided [RCV001354356] Chr11:1232699 [GRCh38]
Chr11:1253929 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.854C>T (p.Ala285Val) single nucleotide variant not provided [RCV001354908] Chr11:1228643 [GRCh38]
Chr11:1249873 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.10059G>A (p.Pro3353=) single nucleotide variant not provided [RCV001357497] Chr11:1246939 [GRCh38]
Chr11:1268169 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.15583G>A (p.Val5195Met) single nucleotide variant not provided [RCV001355187] Chr11:1254799 [GRCh38]
Chr11:1276029 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.12243C>A (p.Ser4081=) single nucleotide variant not provided [RCV001355645] Chr11:1249123 [GRCh38]
Chr11:1270353 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.2041A>G (p.Ser681Gly) single nucleotide variant Interstitial lung disease 2 [RCV001376075] Chr11:1232746 [GRCh38]
Chr11:1253976 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.5577C>T (p.Asn1859=) single nucleotide variant not provided [RCV001614780] Chr11:1242457 [GRCh38]
Chr11:1263687 [GRCh37]
Chr11:11p15.5
benign
NM_002458.3(MUC5B):c.15218-216G>A single nucleotide variant not provided [RCV001669212] Chr11:1253876 [GRCh38]
Chr11:1275106 [GRCh37]
Chr11:11p15.5
benign
NM_002458.3(MUC5B):c.3058-180G>A single nucleotide variant not provided [RCV001713560] Chr11:1236745 [GRCh38]
Chr11:1257975 [GRCh37]
Chr11:11p15.5
benign
NM_002458.3(MUC5B):c.6698T>G (p.Val2233Gly) single nucleotide variant not provided [RCV001643728] Chr11:1243578 [GRCh38]
Chr11:1264808 [GRCh37]
Chr11:11p15.5
benign
NM_002458.3(MUC5B):c.1679-90C>T single nucleotide variant not provided [RCV001713916] Chr11:1231906 [GRCh38]
Chr11:1253136 [GRCh37]
Chr11:11p15.5
benign
NM_002458.3(MUC5B):c.10371G>A (p.Arg3457=) single nucleotide variant not provided [RCV001710844] Chr11:1247251 [GRCh38]
Chr11:1268481 [GRCh37]
Chr11:11p15.5
benign
NM_002458.3(MUC5B):c.4202G>A (p.Arg1401His) single nucleotide variant not provided [RCV001724665] Chr11:1241082 [GRCh38]
Chr11:1262312 [GRCh37]
Chr11:11p15.5
benign
NM_002458.3(MUC5B):c.976+180G>A single nucleotide variant not provided [RCV001724666] Chr11:1228945 [GRCh38]
Chr11:1250175 [GRCh37]
Chr11:11p15.5
benign
NM_002458.3(MUC5B):c.6997C>T (p.Pro2333Ser) single nucleotide variant not provided [RCV001674269] Chr11:1243877 [GRCh38]
Chr11:1265107 [GRCh37]
Chr11:11p15.5
benign
NM_002458.3(MUC5B):c.15218-304C>A single nucleotide variant not provided [RCV001649881] Chr11:1253788 [GRCh38]
Chr11:1275018 [GRCh37]
Chr11:11p15.5
benign
NM_002458.3(MUC5B):c.775-193C>G single nucleotide variant not provided [RCV001716341] Chr11:1228371 [GRCh38]
Chr11:1249601 [GRCh37]
Chr11:11p15.5
benign
NM_002458.3(MUC5B):c.16801-59T>C single nucleotide variant not provided [RCV001681246] Chr11:1259904 [GRCh38]
Chr11:1281134 [GRCh37]
Chr11:11p15.5
benign
NM_002458.3(MUC5B):c.10853G>A (p.Arg3618His) single nucleotide variant not provided [RCV001730332]|not specified [RCV004040021] Chr11:1247733 [GRCh38]
Chr11:1268963 [GRCh37]
Chr11:11p15.5
benign|likely benign|uncertain significance
NM_002458.3(MUC5B):c.8919C>G (p.Ser2973Arg) single nucleotide variant not specified [RCV004296186] Chr11:1245799 [GRCh38]
Chr11:1267029 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.1223C>T (p.Thr408Ile) single nucleotide variant not specified [RCV004311747] Chr11:1230007 [GRCh38]
Chr11:1251237 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.10346A>C (p.Asn3449Thr) single nucleotide variant not provided [RCV004809155] Chr11:1247226 [GRCh38]
Chr11:1268456 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.16861G>T (p.Glu5621Ter) single nucleotide variant Pulmonary fibrosis [RCV004799171] Chr11:1260023 [GRCh38]
Chr11:1281253 [GRCh37]
Chr11:11p15.5
likely pathogenic
NM_002458.3(MUC5B):c.6155C>T (p.Pro2052Leu) single nucleotide variant not provided [RCV004809172] Chr11:1243035 [GRCh38]
Chr11:1264265 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.6158C>G (p.Thr2053Ser) single nucleotide variant not provided [RCV004809182] Chr11:1243038 [GRCh38]
Chr11:1264268 [GRCh37]
Chr11:11p15.5
likely benign
GRCh37/hg19 11p15.5-15.4(chr11:230615-5525355)x3 copy number gain not provided [RCV001825269] Chr11:230615..5525355 [GRCh37]
Chr11:11p15.5-15.4
not provided
GRCh37/hg19 11p15.5(chr11:1247127-1654552) copy number gain not specified [RCV002052910] Chr11:1247127..1654552 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.2029G>A (p.Gly677Ser) single nucleotide variant not provided [RCV002223490] Chr11:1232734 [GRCh38]
Chr11:1253964 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.5620G>C (p.Val1874Leu) single nucleotide variant not provided [RCV002223355] Chr11:1242500 [GRCh38]
Chr11:1263730 [GRCh37]
Chr11:11p15.5
uncertain significance
NC_000011.9:g.(?_1278740)_(2906719_?)dup duplication Autosomal recessive DOPA responsive dystonia [RCV003113999] Chr11:1278740..2906719 [GRCh37]
Chr11:11p15.5-15.4
uncertain significance
NC_000011.9:g.(?_721044)_(3988932_?)dup duplication not provided [RCV003113442] Chr11:721044..3988932 [GRCh37]
Chr11:11p15.5-15.4
uncertain significance
NM_002458.3(MUC5B):c.10868C>T (p.Pro3623Leu) single nucleotide variant not specified [RCV004310409] Chr11:1247748 [GRCh38]
Chr11:1268978 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.7651C>T (p.Arg2551Cys) single nucleotide variant not specified [RCV004290498] Chr11:1244531 [GRCh38]
Chr11:1265761 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.5128C>T (p.Arg1710Cys) single nucleotide variant MUC5B-related disorder [RCV004758930]|not specified [RCV004290553] Chr11:1242008 [GRCh38]
Chr11:1263238 [GRCh37]
Chr11:11p15.5
likely benign|uncertain significance
GRCh37/hg19 11p15.5-14.2(chr11:230615-26881146)x3 copy number gain See cases [RCV002286351] Chr11:230615..26881146 [GRCh37]
Chr11:11p15.5-14.2
pathogenic
NC_000011.10:g.(499700_4999400)_(5279346_5279697)del deletion Thalassemia, gamma-delta-beta [RCV000015529] Chr11:4999400..5279346 [GRCh38]
Chr11:11p15.5-15.4
pathogenic
NM_002458.3(MUC5B):c.2032G>A (p.Val678Ile) single nucleotide variant not specified [RCV004287636] Chr11:1232737 [GRCh38]
Chr11:1253967 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.10358C>A (p.Thr3453Asn) single nucleotide variant not specified [RCV004304536] Chr11:1247238 [GRCh38]
Chr11:1268468 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.11173C>A (p.Pro3725Thr) single nucleotide variant not specified [RCV004306944] Chr11:1248053 [GRCh38]
Chr11:1269283 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.16768G>A (p.Ala5590Thr) single nucleotide variant not specified [RCV004299311] Chr11:1259810 [GRCh38]
Chr11:1281040 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.9101C>T (p.Ala3034Val) single nucleotide variant not specified [RCV004322707] Chr11:1245981 [GRCh38]
Chr11:1267211 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.13945G>C (p.Ala4649Pro) single nucleotide variant not specified [RCV004302827] Chr11:1250825 [GRCh38]
Chr11:1272055 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.15391C>T (p.Arg5131Cys) single nucleotide variant not specified [RCV004327719] Chr11:1254265 [GRCh38]
Chr11:1275495 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.6512C>A (p.Ala2171Asp) single nucleotide variant not specified [RCV004303387] Chr11:1243392 [GRCh38]
Chr11:1264622 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.10883G>A (p.Arg3628Gln) single nucleotide variant not specified [RCV004144003] Chr11:1247763 [GRCh38]
Chr11:1268993 [GRCh37]
Chr11:11p15.5
uncertain significance
GRCh37/hg19 11p15.5-15.4(chr11:230616-8250724)x3 copy number gain not provided [RCV002472435] Chr11:230616..8250724 [GRCh37]
Chr11:11p15.5-15.4
pathogenic
NM_002458.3(MUC5B):c.9679A>G (p.Ser3227Gly) single nucleotide variant not specified [RCV004113604] Chr11:1246559 [GRCh38]
Chr11:1267789 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.11905A>T (p.Thr3969Ser) single nucleotide variant not specified [RCV004136938] Chr11:1248785 [GRCh38]
Chr11:1270015 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.14648T>C (p.Met4883Thr) single nucleotide variant not specified [RCV004087931] Chr11:1251528 [GRCh38]
Chr11:1272758 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.12043T>C (p.Ser4015Pro) single nucleotide variant not specified [RCV004159645] Chr11:1248923 [GRCh38]
Chr11:1270153 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.2918C>T (p.Ala973Val) single nucleotide variant not specified [RCV004156973] Chr11:1236423 [GRCh38]
Chr11:1257653 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.6874C>G (p.Arg2292Gly) single nucleotide variant not specified [RCV004098060] Chr11:1243754 [GRCh38]
Chr11:1264984 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.3688G>A (p.Val1230Ile) single nucleotide variant not specified [RCV004165564] Chr11:1239903 [GRCh38]
Chr11:1261133 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.4675C>A (p.Leu1559Met) single nucleotide variant not specified [RCV004089971] Chr11:1241555 [GRCh38]
Chr11:1262785 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.4931C>T (p.Pro1644Leu) single nucleotide variant not specified [RCV004088646] Chr11:1241811 [GRCh38]
Chr11:1263041 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.11024C>T (p.Pro3675Leu) single nucleotide variant not specified [RCV004129001] Chr11:1247904 [GRCh38]
Chr11:1269134 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.10370G>A (p.Arg3457Gln) single nucleotide variant not specified [RCV004091275] Chr11:1247250 [GRCh38]
Chr11:1268480 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.10343C>T (p.Pro3448Leu) single nucleotide variant not specified [RCV004083876] Chr11:1247223 [GRCh38]
Chr11:1268453 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.15746C>T (p.Thr5249Met) single nucleotide variant not specified [RCV004123955] Chr11:1255122 [GRCh38]
Chr11:1276352 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.10163C>G (p.Pro3388Arg) single nucleotide variant not specified [RCV004147457] Chr11:1247043 [GRCh38]
Chr11:1268273 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.2665C>T (p.Arg889Trp) single nucleotide variant not specified [RCV004082793] Chr11:1235119 [GRCh38]
Chr11:1256349 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.11945C>A (p.Thr3982Lys) single nucleotide variant not specified [RCV004153871] Chr11:1248825 [GRCh38]
Chr11:1270055 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.13111A>G (p.Thr4371Ala) single nucleotide variant not specified [RCV004125330] Chr11:1249991 [GRCh38]
Chr11:1271221 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.9332C>T (p.Thr3111Met) single nucleotide variant not specified [RCV004149944] Chr11:1246212 [GRCh38]
Chr11:1267442 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.15388G>A (p.Ala5130Thr) single nucleotide variant not specified [RCV004220082] Chr11:1254262 [GRCh38]
Chr11:1275492 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.2141G>T (p.Gly714Val) single nucleotide variant not specified [RCV004087001] Chr11:1233088 [GRCh38]
Chr11:1254318 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.9896C>T (p.Thr3299Ile) single nucleotide variant not provided [RCV003427617]|not specified [RCV004149989] Chr11:1246776 [GRCh38]
Chr11:1268006 [GRCh37]
Chr11:11p15.5
likely benign|uncertain significance
NM_002458.3(MUC5B):c.10808C>T (p.Ala3603Val) single nucleotide variant not specified [RCV004238582] Chr11:1247688 [GRCh38]
Chr11:1268918 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.6874C>T (p.Arg2292Cys) single nucleotide variant Interstitial lung disease 2 [RCV004771536]|not specified [RCV004098114] Chr11:1243754 [GRCh38]
Chr11:1264984 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.17125C>T (p.Arg5709Trp) single nucleotide variant not specified [RCV004108570] Chr11:1261444 [GRCh38]
Chr11:1282674 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.8924C>T (p.Pro2975Leu) single nucleotide variant not specified [RCV004103741] Chr11:1245804 [GRCh38]
Chr11:1267034 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.9496G>A (p.Glu3166Lys) single nucleotide variant not specified [RCV004096644] Chr11:1246376 [GRCh38]
Chr11:1267606 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.9782C>T (p.Thr3261Ile) single nucleotide variant not specified [RCV004148197] Chr11:1246662 [GRCh38]
Chr11:1267892 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.12758T>A (p.Leu4253Gln) single nucleotide variant not specified [RCV004104292] Chr11:1249638 [GRCh38]
Chr11:1270868 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.8966C>T (p.Thr2989Met) single nucleotide variant not specified [RCV004236188] Chr11:1245846 [GRCh38]
Chr11:1267076 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.7883G>T (p.Arg2628Leu) single nucleotide variant not specified [RCV004236210] Chr11:1244763 [GRCh38]
Chr11:1265993 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.12797C>T (p.Thr4266Met) single nucleotide variant not specified [RCV004214428] Chr11:1249677 [GRCh38]
Chr11:1270907 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.11600C>G (p.Thr3867Ser) single nucleotide variant not specified [RCV004243912] Chr11:1248480 [GRCh38]
Chr11:1269710 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.9013A>T (p.Thr3005Ser) single nucleotide variant not specified [RCV004086169] Chr11:1245893 [GRCh38]
Chr11:1267123 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.11354C>A (p.Thr3785Lys) single nucleotide variant not specified [RCV004139763] Chr11:1248234 [GRCh38]
Chr11:1269464 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.12692C>T (p.Thr4231Ile) single nucleotide variant not specified [RCV004136267] Chr11:1249572 [GRCh38]
Chr11:1270802 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.11447C>T (p.Thr3816Met) single nucleotide variant not specified [RCV004096183] Chr11:1248327 [GRCh38]
Chr11:1269557 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.5135C>T (p.Ser1712Leu) single nucleotide variant not specified [RCV004159612] Chr11:1242015 [GRCh38]
Chr11:1263245 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.11186C>T (p.Ala3729Val) single nucleotide variant not specified [RCV004085885] Chr11:1248066 [GRCh38]
Chr11:1269296 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.10652C>G (p.Ser3551Trp) single nucleotide variant not specified [RCV004089331] Chr11:1247532 [GRCh38]
Chr11:1268762 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.7517C>T (p.Thr2506Ile) single nucleotide variant not specified [RCV004103793] Chr11:1244397 [GRCh38]
Chr11:1265627 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.7652G>A (p.Arg2551His) single nucleotide variant not specified [RCV004130918] Chr11:1244532 [GRCh38]
Chr11:1265762 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.13195G>C (p.Ala4399Pro) single nucleotide variant not specified [RCV004136730] Chr11:1250075 [GRCh38]
Chr11:1271305 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.15077C>T (p.Thr5026Met) single nucleotide variant not specified [RCV004086957] Chr11:1252840 [GRCh38]
Chr11:1274070 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.13115C>T (p.Thr4372Met) single nucleotide variant not provided [RCV003427598]|not specified [RCV004097530] Chr11:1249995 [GRCh38]
Chr11:1271225 [GRCh37]
Chr11:11p15.5
likely benign|uncertain significance
NM_002458.3(MUC5B):c.10558G>A (p.Glu3520Lys) single nucleotide variant not specified [RCV004139690] Chr11:1247438 [GRCh38]
Chr11:1268668 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.703C>A (p.Gln235Lys) single nucleotide variant not specified [RCV004137116] Chr11:1227710 [GRCh38]
Chr11:1248940 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.13843C>T (p.Pro4615Ser) single nucleotide variant not specified [RCV004166808] Chr11:1250723 [GRCh38]
Chr11:1271953 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.6455C>T (p.Thr2152Ile) single nucleotide variant not specified [RCV004128631] Chr11:1243335 [GRCh38]
Chr11:1264565 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.1171G>A (p.Gly391Ser) single nucleotide variant not specified [RCV004145433] Chr11:1229758 [GRCh38]
Chr11:1250988 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.7442C>T (p.Thr2481Met) single nucleotide variant not specified [RCV004149442] Chr11:1244322 [GRCh38]
Chr11:1265552 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.14071G>A (p.Gly4691Ser) single nucleotide variant not specified [RCV004106272] Chr11:1250951 [GRCh38]
Chr11:1272181 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.10523C>G (p.Ala3508Gly) single nucleotide variant not specified [RCV004113590] Chr11:1247403 [GRCh38]
Chr11:1268633 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.12854C>T (p.Pro4285Leu) single nucleotide variant not specified [RCV004085518] Chr11:1249734 [GRCh38]
Chr11:1270964 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.15460G>A (p.Gly5154Arg) single nucleotide variant not specified [RCV004103651] Chr11:1254334 [GRCh38]
Chr11:1275564 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.8405C>G (p.Thr2802Ser) single nucleotide variant not specified [RCV004147458] Chr11:1245285 [GRCh38]
Chr11:1266515 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.4708G>A (p.Val1570Ile) single nucleotide variant not specified [RCV004153778] Chr11:1241588 [GRCh38]
Chr11:1262818 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.1456G>A (p.Asp486Asn) single nucleotide variant not specified [RCV004208536] Chr11:1230586 [GRCh38]
Chr11:1251816 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.15094G>A (p.Gly5032Ser) single nucleotide variant not specified [RCV004156204] Chr11:1252857 [GRCh38]
Chr11:1274087 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.15241T>C (p.Ser5081Pro) single nucleotide variant not specified [RCV004144959] Chr11:1254115 [GRCh38]
Chr11:1275345 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.11558C>T (p.Pro3853Leu) single nucleotide variant not specified [RCV004154802] Chr11:1248438 [GRCh38]
Chr11:1269668 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.3427G>A (p.Val1143Met) single nucleotide variant not specified [RCV004141502] Chr11:1239000 [GRCh38]
Chr11:1260230 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.14149G>A (p.Ala4717Thr) single nucleotide variant not specified [RCV004091114] Chr11:1251029 [GRCh38]
Chr11:1272259 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.16280G>A (p.Arg5427Gln) single nucleotide variant not specified [RCV004135697] Chr11:1257540 [GRCh38]
Chr11:1278770 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.3883A>G (p.Ile1295Val) single nucleotide variant not specified [RCV004127722] Chr11:1240288 [GRCh38]
Chr11:1261518 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.5768C>T (p.Thr1923Met) single nucleotide variant not specified [RCV004084052] Chr11:1242648 [GRCh38]
Chr11:1263878 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.9368C>T (p.Ser3123Phe) single nucleotide variant not specified [RCV004142261] Chr11:1246248 [GRCh38]
Chr11:1267478 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.226G>T (p.Val76Leu) single nucleotide variant not specified [RCV004093208] Chr11:1226641 [GRCh38]
Chr11:1247871 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.10054A>G (p.Ile3352Val) single nucleotide variant not specified [RCV004209209] Chr11:1246934 [GRCh38]
Chr11:1268164 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.9786G>A (p.Met3262Ile) single nucleotide variant not specified [RCV004085640] Chr11:1246666 [GRCh38]
Chr11:1267896 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.3955C>A (p.Pro1319Thr) single nucleotide variant not specified [RCV004091822] Chr11:1240360 [GRCh38]
Chr11:1261590 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.10265C>A (p.Thr3422Asn) single nucleotide variant not specified [RCV004142371] Chr11:1247145 [GRCh38]
Chr11:1268375 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.7178T>C (p.Val2393Ala) single nucleotide variant not specified [RCV004082399] Chr11:1244058 [GRCh38]
Chr11:1265288 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.11246G>C (p.Gly3749Ala) single nucleotide variant not specified [RCV004161988] Chr11:1248126 [GRCh38]
Chr11:1269356 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.16825C>G (p.His5609Asp) single nucleotide variant not specified [RCV004140115] Chr11:1259987 [GRCh38]
Chr11:1281217 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.13108G>A (p.Ala4370Thr) single nucleotide variant not provided [RCV003427600]|not specified [RCV004096846] Chr11:1249988 [GRCh38]
Chr11:1271218 [GRCh37]
Chr11:11p15.5
benign|uncertain significance
NM_002458.3(MUC5B):c.7709C>T (p.Thr2570Ile) single nucleotide variant not specified [RCV004123236] Chr11:1244589 [GRCh38]
Chr11:1265819 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.10694C>T (p.Thr3565Met) single nucleotide variant not provided [RCV004809918]|not specified [RCV004075945] Chr11:1247574 [GRCh38]
Chr11:1268804 [GRCh37]
Chr11:11p15.5
likely benign|uncertain significance
NM_002458.3(MUC5B):c.12309C>A (p.Ser4103Arg) single nucleotide variant not specified [RCV004117615] Chr11:1249189 [GRCh38]
Chr11:1270419 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.4351G>C (p.Glu1451Gln) single nucleotide variant not specified [RCV004083969] Chr11:1241231 [GRCh38]
Chr11:1262461 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.9547G>A (p.Ala3183Thr) single nucleotide variant not specified [RCV004190553] Chr11:1246427 [GRCh38]
Chr11:1267657 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.13070C>T (p.Pro4357Leu) single nucleotide variant not specified [RCV004181328] Chr11:1249950 [GRCh38]
Chr11:1271180 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.11234A>G (p.Gln3745Arg) single nucleotide variant not specified [RCV004140895] Chr11:1248114 [GRCh38]
Chr11:1269344 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.10369C>T (p.Arg3457Trp) single nucleotide variant not specified [RCV004079781] Chr11:1247249 [GRCh38]
Chr11:1268479 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.5386G>A (p.Val1796Met) single nucleotide variant not specified [RCV004080703] Chr11:1242266 [GRCh38]
Chr11:1263496 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.9971C>T (p.Pro3324Leu) single nucleotide variant not specified [RCV004106021] Chr11:1246851 [GRCh38]
Chr11:1268081 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.7268C>T (p.Thr2423Met) single nucleotide variant not specified [RCV004084786] Chr11:1244148 [GRCh38]
Chr11:1265378 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.2059G>A (p.Val687Ile) single nucleotide variant not specified [RCV004135013] Chr11:1232764 [GRCh38]
Chr11:1253994 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.4901C>T (p.Thr1634Met) single nucleotide variant not specified [RCV004102588] Chr11:1241781 [GRCh38]
Chr11:1263011 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.5249C>A (p.Thr1750Lys) single nucleotide variant not specified [RCV004158700] Chr11:1242129 [GRCh38]
Chr11:1263359 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.13295C>A (p.Ala4432Glu) single nucleotide variant not specified [RCV004075959] Chr11:1250175 [GRCh38]
Chr11:1271405 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.8270G>T (p.Arg2757Leu) single nucleotide variant not specified [RCV004164536] Chr11:1245150 [GRCh38]
Chr11:1266380 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.6884C>A (p.Thr2295Asn) single nucleotide variant not specified [RCV004146761] Chr11:1243764 [GRCh38]
Chr11:1264994 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.7741A>G (p.Thr2581Ala) single nucleotide variant not specified [RCV004180115] Chr11:1244621 [GRCh38]
Chr11:1265851 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.211G>A (p.Ala71Thr) single nucleotide variant not specified [RCV004170437] Chr11:1226626 [GRCh38]
Chr11:1247856 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.11872G>A (p.Gly3958Ser) single nucleotide variant not specified [RCV004158157] Chr11:1248752 [GRCh38]
Chr11:1269982 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.13847C>T (p.Pro4616Leu) single nucleotide variant not specified [RCV004076232] Chr11:1250727 [GRCh38]
Chr11:1271957 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.14312C>T (p.Pro4771Leu) single nucleotide variant not specified [RCV004100665] Chr11:1251192 [GRCh38]
Chr11:1272422 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.13007C>A (p.Thr4336Asn) single nucleotide variant not specified [RCV004113388] Chr11:1249887 [GRCh38]
Chr11:1271117 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.9776C>T (p.Thr3259Met) single nucleotide variant not specified [RCV004126718] Chr11:1246656 [GRCh38]
Chr11:1267886 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.8546G>A (p.Arg2849His) single nucleotide variant not provided [RCV004809965]|not specified [RCV004240615] Chr11:1245426 [GRCh38]
Chr11:1266656 [GRCh37]
Chr11:11p15.5
likely benign|uncertain significance
NM_002458.3(MUC5B):c.13253C>T (p.Thr4418Ile) single nucleotide variant not specified [RCV004190686] Chr11:1250133 [GRCh38]
Chr11:1271363 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.8962G>T (p.Gly2988Trp) single nucleotide variant not specified [RCV004114145] Chr11:1245842 [GRCh38]
Chr11:1267072 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.11254C>A (p.His3752Asn) single nucleotide variant not specified [RCV004140896] Chr11:1248134 [GRCh38]
Chr11:1269364 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.11120G>C (p.Gly3707Ala) single nucleotide variant not specified [RCV004116409] Chr11:1248000 [GRCh38]
Chr11:1269230 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.15926G>C (p.Gly5309Ala) single nucleotide variant not specified [RCV004120353] Chr11:1255418 [GRCh38]
Chr11:1276648 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.11174C>T (p.Pro3725Leu) single nucleotide variant not specified [RCV004090280] Chr11:1248054 [GRCh38]
Chr11:1269284 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.10813G>A (p.Gly3605Arg) single nucleotide variant not provided [RCV003427653]|not specified [RCV004202113] Chr11:1247693 [GRCh38]
Chr11:1268923 [GRCh37]
Chr11:11p15.5
likely benign|uncertain significance
NM_002458.3(MUC5B):c.8659A>G (p.Met2887Val) single nucleotide variant not specified [RCV004104385] Chr11:1245539 [GRCh38]
Chr11:1266769 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.15368C>T (p.Ala5123Val) single nucleotide variant not provided [RCV003427675]|not specified [RCV004227639] Chr11:1254242 [GRCh38]
Chr11:1275472 [GRCh37]
Chr11:11p15.5
benign|uncertain significance
NM_002458.3(MUC5B):c.9082A>C (p.Thr3028Pro) single nucleotide variant not specified [RCV004178566] Chr11:1245962 [GRCh38]
Chr11:1267192 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.8448C>G (p.Ser2816Arg) single nucleotide variant not specified [RCV004103032] Chr11:1245328 [GRCh38]
Chr11:1266558 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.428C>G (p.Ala143Gly) single nucleotide variant not specified [RCV004109408] Chr11:1226843 [GRCh38]
Chr11:1248073 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.2896C>T (p.Leu966Phe) single nucleotide variant not specified [RCV004151683] Chr11:1236401 [GRCh38]
Chr11:1257631 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.9164C>T (p.Thr3055Ile) single nucleotide variant not specified [RCV004079760] Chr11:1246044 [GRCh38]
Chr11:1267274 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.8801T>A (p.Val2934Glu) single nucleotide variant not specified [RCV004083976] Chr11:1245681 [GRCh38]
Chr11:1266911 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.9473C>A (p.Pro3158Gln) single nucleotide variant not specified [RCV004108007] Chr11:1246353 [GRCh38]
Chr11:1267583 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.13772C>G (p.Thr4591Ser) single nucleotide variant not specified [RCV004093982] Chr11:1250652 [GRCh38]
Chr11:1271882 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.9848C>A (p.Thr3283Lys) single nucleotide variant not specified [RCV004098516] Chr11:1246728 [GRCh38]
Chr11:1267958 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.7381A>G (p.Thr2461Ala) single nucleotide variant not specified [RCV004080562] Chr11:1244261 [GRCh38]
Chr11:1265491 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.8458G>A (p.Glu2820Lys) single nucleotide variant not specified [RCV004084486] Chr11:1245338 [GRCh38]
Chr11:1266568 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.15182C>T (p.Pro5061Leu) single nucleotide variant not specified [RCV004102301] Chr11:1252945 [GRCh38]
Chr11:1274175 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.10646G>A (p.Arg3549His) single nucleotide variant not specified [RCV004083568] Chr11:1247526 [GRCh38]
Chr11:1268756 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.6266C>T (p.Thr2089Met) single nucleotide variant not specified [RCV004101865] Chr11:1243146 [GRCh38]
Chr11:1264376 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.826G>A (p.Ala276Thr) single nucleotide variant not specified [RCV004088675] Chr11:1228615 [GRCh38]
Chr11:1249845 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.13241C>A (p.Thr4414Asn) single nucleotide variant not specified [RCV004167648] Chr11:1250121 [GRCh38]
Chr11:1271351 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.9605C>T (p.Thr3202Ile) single nucleotide variant not specified [RCV004146993] Chr11:1246485 [GRCh38]
Chr11:1267715 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.12049T>C (p.Ser4017Pro) single nucleotide variant not provided [RCV004585017]|not specified [RCV004240637] Chr11:1248929 [GRCh38]
Chr11:1270159 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.9397T>C (p.Trp3133Arg) single nucleotide variant not specified [RCV004100824] Chr11:1246277 [GRCh38]
Chr11:1267507 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.14844T>G (p.Phe4948Leu) single nucleotide variant not specified [RCV004075914] Chr11:1251724 [GRCh38]
Chr11:1272954 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.14719G>A (p.Ala4907Thr) single nucleotide variant not specified [RCV004240707] Chr11:1251599 [GRCh38]
Chr11:1272829 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.15485T>C (p.Phe5162Ser) single nucleotide variant not specified [RCV004153777] Chr11:1254701 [GRCh38]
Chr11:1275931 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.14678C>T (p.Thr4893Met) single nucleotide variant not specified [RCV004234124] Chr11:1251558 [GRCh38]
Chr11:1272788 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.8087C>T (p.Thr2696Met) single nucleotide variant not specified [RCV004082415] Chr11:1244967 [GRCh38]
Chr11:1266197 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.6830C>G (p.Thr2277Arg) single nucleotide variant not specified [RCV004084310] Chr11:1243710 [GRCh38]
Chr11:1264940 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.8078C>T (p.Thr2693Met) single nucleotide variant not specified [RCV004102302] Chr11:1244958 [GRCh38]
Chr11:1266188 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.12737C>T (p.Thr4246Met) single nucleotide variant not specified [RCV004169062] Chr11:1249617 [GRCh38]
Chr11:1270847 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.3514G>A (p.Gly1172Arg) single nucleotide variant not specified [RCV004079822] Chr11:1239497 [GRCh38]
Chr11:1260727 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.9772C>T (p.Pro3258Ser) single nucleotide variant not specified [RCV004086484] Chr11:1246652 [GRCh38]
Chr11:1267882 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.12766A>G (p.Thr4256Ala) single nucleotide variant not specified [RCV004086168] Chr11:1249646 [GRCh38]
Chr11:1270876 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.3571C>T (p.Pro1191Ser) single nucleotide variant not specified [RCV004234255] Chr11:1239554 [GRCh38]
Chr11:1260784 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.5660G>C (p.Ser1887Thr) single nucleotide variant not specified [RCV004086263] Chr11:1242540 [GRCh38]
Chr11:1263770 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.12002C>A (p.Thr4001Lys) single nucleotide variant not specified [RCV004108931] Chr11:1248882 [GRCh38]
Chr11:1270112 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.7006G>A (p.Gly2336Arg) single nucleotide variant not specified [RCV004119773] Chr11:1243886 [GRCh38]
Chr11:1265116 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.11558C>A (p.Pro3853His) single nucleotide variant not specified [RCV004124299] Chr11:1248438 [GRCh38]
Chr11:1269668 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.16667C>T (p.Thr5556Met) single nucleotide variant not specified [RCV004226254] Chr11:1259015 [GRCh38]
Chr11:1280245 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.4559C>T (p.Ser1520Phe) single nucleotide variant not specified [RCV004088062] Chr11:1241439 [GRCh38]
Chr11:1262669 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.14096C>A (p.Thr4699Asn) single nucleotide variant not specified [RCV004136043] Chr11:1250976 [GRCh38]
Chr11:1272206 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.12104C>T (p.Thr4035Ile) single nucleotide variant not specified [RCV004236150] Chr11:1248984 [GRCh38]
Chr11:1270214 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.9997T>C (p.Trp3333Arg) single nucleotide variant not specified [RCV004236211] Chr11:1246877 [GRCh38]
Chr11:1268107 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.3983C>T (p.Pro1328Leu) single nucleotide variant not specified [RCV004087135] Chr11:1240863 [GRCh38]
Chr11:1262093 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.11654G>A (p.Arg3885His) single nucleotide variant not specified [RCV004089084] Chr11:1248534 [GRCh38]
Chr11:1269764 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.6343G>A (p.Gly2115Ser) single nucleotide variant not specified [RCV004087317] Chr11:1243223 [GRCh38]
Chr11:1264453 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.11728C>A (p.Pro3910Thr) single nucleotide variant not specified [RCV004123324] Chr11:1248608 [GRCh38]
Chr11:1269838 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.7865C>T (p.Ser2622Phe) single nucleotide variant not specified [RCV004091011] Chr11:1244745 [GRCh38]
Chr11:1265975 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.8261C>T (p.Thr2754Ile) single nucleotide variant not specified [RCV004135912] Chr11:1245141 [GRCh38]
Chr11:1266371 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.2179G>A (p.Val727Met) single nucleotide variant not specified [RCV004091515] Chr11:1233126 [GRCh38]
Chr11:1254356 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.12731C>T (p.Pro4244Leu) single nucleotide variant not specified [RCV004069256] Chr11:1249611 [GRCh38]
Chr11:1270841 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.15171A>T (p.Lys5057Asn) single nucleotide variant not specified [RCV004174788] Chr11:1252934 [GRCh38]
Chr11:1274164 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.3059G>A (p.Gly1020Asp) single nucleotide variant not specified [RCV004163340] Chr11:1236926 [GRCh38]
Chr11:1258156 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.5204C>A (p.Thr1735Asn) single nucleotide variant not specified [RCV004095279] Chr11:1242084 [GRCh38]
Chr11:1263314 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.7393C>T (p.Leu2465Phe) single nucleotide variant not specified [RCV004187985] Chr11:1244273 [GRCh38]
Chr11:1265503 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.14290G>A (p.Val4764Ile) single nucleotide variant not specified [RCV004128888] Chr11:1251170 [GRCh38]
Chr11:1272400 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.10615A>G (p.Thr3539Ala) single nucleotide variant not specified [RCV004114296] Chr11:1247495 [GRCh38]
Chr11:1268725 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.5779A>G (p.Thr1927Ala) single nucleotide variant not specified [RCV004168015] Chr11:1242659 [GRCh38]
Chr11:1263889 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.11846C>G (p.Thr3949Ser) single nucleotide variant not specified [RCV004078583] Chr11:1248726 [GRCh38]
Chr11:1269956 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.15011C>T (p.Ala5004Val) single nucleotide variant not specified [RCV004179608] Chr11:1252490 [GRCh38]
Chr11:1273720 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.8053G>C (p.Gly2685Arg) single nucleotide variant not specified [RCV004148748] Chr11:1244933 [GRCh38]
Chr11:1266163 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.391C>T (p.Arg131Cys) single nucleotide variant not specified [RCV004082194] Chr11:1226806 [GRCh38]
Chr11:1248036 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.14108C>T (p.Thr4703Ile) single nucleotide variant not specified [RCV004106578] Chr11:1250988 [GRCh38]
Chr11:1272218 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.8525C>T (p.Thr2842Met) single nucleotide variant not provided [RCV003427604]|not specified [RCV004106608] Chr11:1245405 [GRCh38]
Chr11:1266635 [GRCh37]
Chr11:11p15.5
likely benign|uncertain significance
NM_002458.3(MUC5B):c.6808A>T (p.Thr2270Ser) single nucleotide variant not specified [RCV004072143] Chr11:1243688 [GRCh38]
Chr11:1264918 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.10709G>A (p.Gly3570Asp) single nucleotide variant not specified [RCV004122957] Chr11:1247589 [GRCh38]
Chr11:1268819 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.3229C>T (p.Arg1077Cys) single nucleotide variant not specified [RCV004113220] Chr11:1237096 [GRCh38]
Chr11:1258326 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.16982G>A (p.Arg5661His) single nucleotide variant not specified [RCV004086251] Chr11:1260641 [GRCh38]
Chr11:1281871 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.13013C>A (p.Pro4338Gln) single nucleotide variant not specified [RCV004135573] Chr11:1249893 [GRCh38]
Chr11:1271123 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.436G>A (p.Gly146Ser) single nucleotide variant not specified [RCV004124270] Chr11:1226851 [GRCh38]
Chr11:1248081 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.5246T>A (p.Leu1749His) single nucleotide variant not specified [RCV004167811] Chr11:1242126 [GRCh38]
Chr11:1263356 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.9386C>T (p.Pro3129Leu) single nucleotide variant not specified [RCV004075535] Chr11:1246266 [GRCh38]
Chr11:1267496 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.11858C>T (p.Thr3953Met) single nucleotide variant not specified [RCV004200970] Chr11:1248738 [GRCh38]
Chr11:1269968 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.4853C>T (p.Thr1618Met) single nucleotide variant not specified [RCV004146383] Chr11:1241733 [GRCh38]
Chr11:1262963 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.11498C>A (p.Thr3833Asn) single nucleotide variant not specified [RCV004151043] Chr11:1248378 [GRCh38]
Chr11:1269608 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.13390G>A (p.Gly4464Arg) single nucleotide variant not specified [RCV004246688] Chr11:1250270 [GRCh38]
Chr11:1271500 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.7214G>A (p.Arg2405His) single nucleotide variant not specified [RCV004140790] Chr11:1244094 [GRCh38]
Chr11:1265324 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.8246A>C (p.Asn2749Thr) single nucleotide variant not specified [RCV004082228] Chr11:1245126 [GRCh38]
Chr11:1266356 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.14972C>T (p.Pro4991Leu) single nucleotide variant not specified [RCV004149058] Chr11:1252451 [GRCh38]
Chr11:1273681 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.8099C>T (p.Thr2700Ile) single nucleotide variant not specified [RCV004126828] Chr11:1244979 [GRCh38]
Chr11:1266209 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.14722G>C (p.Val4908Leu) single nucleotide variant not specified [RCV004109336] Chr11:1251602 [GRCh38]
Chr11:1272832 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.14572A>T (p.Met4858Leu) single nucleotide variant not specified [RCV004094232] Chr11:1251452 [GRCh38]
Chr11:1272682 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.2758A>C (p.Ile920Leu) single nucleotide variant not specified [RCV004088960] Chr11:1235212 [GRCh38]
Chr11:1256442 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.16207G>T (p.Ala5403Ser) single nucleotide variant not specified [RCV004167425] Chr11:1256741 [GRCh38]
Chr11:1277971 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.4468C>T (p.Pro1490Ser) single nucleotide variant not specified [RCV004107334] Chr11:1241348 [GRCh38]
Chr11:1262578 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.6100G>A (p.Gly2034Ser) single nucleotide variant not specified [RCV004181201] Chr11:1242980 [GRCh38]
Chr11:1264210 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.14412T>A (p.Asn4804Lys) single nucleotide variant not specified [RCV004125589] Chr11:1251292 [GRCh38]
Chr11:1272522 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.9383C>A (p.Thr3128Asn) single nucleotide variant not specified [RCV004080066] Chr11:1246263 [GRCh38]
Chr11:1267493 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.10514C>T (p.Ser3505Leu) single nucleotide variant not specified [RCV004084047] Chr11:1247394 [GRCh38]
Chr11:1268624 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.7168C>T (p.Arg2390Cys) single nucleotide variant not specified [RCV004164486] Chr11:1244048 [GRCh38]
Chr11:1265278 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.6272C>T (p.Thr2091Ile) single nucleotide variant not specified [RCV004102671] Chr11:1243152 [GRCh38]
Chr11:1264382 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.10121T>C (p.Met3374Thr) single nucleotide variant not specified [RCV004180752] Chr11:1247001 [GRCh38]
Chr11:1268231 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.845C>T (p.Ala282Val) single nucleotide variant not specified [RCV004083725] Chr11:1228634 [GRCh38]
Chr11:1249864 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.15091G>A (p.Val5031Met) single nucleotide variant not specified [RCV004088595] Chr11:1252854 [GRCh38]
Chr11:1274084 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.10277C>A (p.Pro3426His) single nucleotide variant not specified [RCV004150055] Chr11:1247157 [GRCh38]
Chr11:1268387 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.7011C>G (p.Asp2337Glu) single nucleotide variant not provided [RCV004585010]|not specified [RCV004181076] Chr11:1243891 [GRCh38]
Chr11:1265121 [GRCh37]
Chr11:11p15.5
likely benign|uncertain significance
NM_002458.3(MUC5B):c.5530G>C (p.Gly1844Arg) single nucleotide variant not specified [RCV004099564] Chr11:1242410 [GRCh38]
Chr11:1263640 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.13958C>G (p.Thr4653Ser) single nucleotide variant not specified [RCV004179592] Chr11:1250838 [GRCh38]
Chr11:1272068 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.15850C>G (p.Pro5284Ala) single nucleotide variant not specified [RCV004126940] Chr11:1255226 [GRCh38]
Chr11:1276456 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.12350C>T (p.Ser4117Leu) single nucleotide variant not specified [RCV004105151] Chr11:1249230 [GRCh38]
Chr11:1270460 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.934G>A (p.Ala312Thr) single nucleotide variant not specified [RCV004089907] Chr11:1228723 [GRCh38]
Chr11:1249953 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.11231C>T (p.Thr3744Ile) single nucleotide variant not specified [RCV004083629] Chr11:1248111 [GRCh38]
Chr11:1269341 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.5147C>T (p.Thr1716Met) single nucleotide variant not specified [RCV004083838] Chr11:1242027 [GRCh38]
Chr11:1263257 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.10880T>G (p.Leu3627Arg) single nucleotide variant not specified [RCV004148007] Chr11:1247760 [GRCh38]
Chr11:1268990 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.12655C>T (p.Arg4219Cys) single nucleotide variant not specified [RCV004178270] Chr11:1249535 [GRCh38]
Chr11:1270765 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.10607C>T (p.Thr3536Ile) single nucleotide variant not specified [RCV004121177] Chr11:1247487 [GRCh38]
Chr11:1268717 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.10172C>T (p.Thr3391Ile) single nucleotide variant not specified [RCV004137028] Chr11:1247052 [GRCh38]
Chr11:1268282 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.1384G>A (p.Val462Met) single nucleotide variant not provided [RCV004695463]|not specified [RCV004130310] Chr11:1230514 [GRCh38]
Chr11:1251744 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.7798C>A (p.Pro2600Thr) single nucleotide variant not specified [RCV004075701] Chr11:1244678 [GRCh38]
Chr11:1265908 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.10763C>T (p.Pro3588Leu) single nucleotide variant not specified [RCV004077895] Chr11:1247643 [GRCh38]
Chr11:1268873 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.13553C>G (p.Thr4518Arg) single nucleotide variant not specified [RCV004078584] Chr11:1250433 [GRCh38]
Chr11:1271663 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.5813T>A (p.Val1938Glu) single nucleotide variant not specified [RCV004095961] Chr11:1242693 [GRCh38]
Chr11:1263923 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.16700C>T (p.Thr5567Ile) single nucleotide variant not specified [RCV004177388] Chr11:1259048 [GRCh38]
Chr11:1280278 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.14051C>T (p.Ala4684Val) single nucleotide variant not specified [RCV004168958] Chr11:1250931 [GRCh38]
Chr11:1272161 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.1748C>T (p.Thr583Met) single nucleotide variant not specified [RCV004137215] Chr11:1232065 [GRCh38]
Chr11:1253295 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.17137G>A (p.Glu5713Lys) single nucleotide variant not specified [RCV004158285] Chr11:1261456 [GRCh38]
Chr11:1282686 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.3238T>C (p.Trp1080Arg) single nucleotide variant not specified [RCV004173716] Chr11:1237105 [GRCh38]
Chr11:1258335 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.14941C>T (p.Arg4981Cys) single nucleotide variant not specified [RCV004092323] Chr11:1252420 [GRCh38]
Chr11:1273650 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.928G>A (p.Ala310Thr) single nucleotide variant not specified [RCV004177418] Chr11:1228717 [GRCh38]
Chr11:1249947 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.13243C>A (p.Pro4415Thr) single nucleotide variant not specified [RCV004150759] Chr11:1250123 [GRCh38]
Chr11:1271353 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.6152T>G (p.Val2051Gly) single nucleotide variant not specified [RCV004119026] Chr11:1243032 [GRCh38]
Chr11:1264262 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.4282G>A (p.Glu1428Lys) single nucleotide variant not specified [RCV004160989] Chr11:1241162 [GRCh38]
Chr11:1262392 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.6029C>T (p.Pro2010Leu) single nucleotide variant not specified [RCV004125780] Chr11:1242909 [GRCh38]
Chr11:1264139 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.12137C>T (p.Thr4046Met) single nucleotide variant not specified [RCV004241465] Chr11:1249017 [GRCh38]
Chr11:1270247 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.14299C>G (p.Gln4767Glu) single nucleotide variant not specified [RCV004155265] Chr11:1251179 [GRCh38]
Chr11:1272409 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.10184C>A (p.Thr3395Asn) single nucleotide variant not specified [RCV004079912] Chr11:1247064 [GRCh38]
Chr11:1268294 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.12869C>T (p.Thr4290Ile) single nucleotide variant not specified [RCV004185026] Chr11:1249749 [GRCh38]
Chr11:1270979 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.10604G>C (p.Gly3535Ala) single nucleotide variant not specified [RCV004236374] Chr11:1247484 [GRCh38]
Chr11:1268714 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.5650C>T (p.His1884Tyr) single nucleotide variant not specified [RCV004171689] Chr11:1242530 [GRCh38]
Chr11:1263760 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.13803C>A (p.Phe4601Leu) single nucleotide variant not specified [RCV004103491] Chr11:1250683 [GRCh38]
Chr11:1271913 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.11195C>T (p.Thr3732Met) single nucleotide variant not specified [RCV004076358] Chr11:1248075 [GRCh38]
Chr11:1269305 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.7772G>A (p.Gly2591Asp) single nucleotide variant not specified [RCV004142456] Chr11:1244652 [GRCh38]
Chr11:1265882 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.12754G>A (p.Glu4252Lys) single nucleotide variant not provided [RCV003427594]|not specified [RCV004085783] Chr11:1249634 [GRCh38]
Chr11:1270864 [GRCh37]
Chr11:11p15.5
likely benign|uncertain significance
NM_002458.3(MUC5B):c.15593C>G (p.Thr5198Ser) single nucleotide variant not specified [RCV004079973] Chr11:1254809 [GRCh38]
Chr11:1276039 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.6838T>A (p.Ser2280Thr) single nucleotide variant not specified [RCV004094097] Chr11:1243718 [GRCh38]
Chr11:1264948 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.11039C>T (p.Thr3680Met) single nucleotide variant not specified [RCV004082213] Chr11:1247919 [GRCh38]
Chr11:1269149 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.7889T>C (p.Leu2630Pro) single nucleotide variant not specified [RCV004150656] Chr11:1244769 [GRCh38]
Chr11:1265999 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.16358C>T (p.Ala5453Val) single nucleotide variant not specified [RCV004208490] Chr11:1257618 [GRCh38]
Chr11:1278848 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.4340G>C (p.Ser1447Thr) single nucleotide variant not specified [RCV004137780] Chr11:1241220 [GRCh38]
Chr11:1262450 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.10163C>T (p.Pro3388Leu) single nucleotide variant not specified [RCV004106745] Chr11:1247043 [GRCh38]
Chr11:1268273 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.13367C>T (p.Thr4456Ile) single nucleotide variant not specified [RCV004077906] Chr11:1250247 [GRCh38]
Chr11:1271477 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.9948C>A (p.Phe3316Leu) single nucleotide variant not specified [RCV004103493] Chr11:1246828 [GRCh38]
Chr11:1268058 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.870C>A (p.Asp290Glu) single nucleotide variant not specified [RCV004179066] Chr11:1228659 [GRCh38]
Chr11:1249889 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.12517G>A (p.Glu4173Lys) single nucleotide variant not specified [RCV004075853] Chr11:1249397 [GRCh38]
Chr11:1270627 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.14840C>T (p.Ala4947Val) single nucleotide variant not specified [RCV004131662] Chr11:1251720 [GRCh38]
Chr11:1272950 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.5264C>A (p.Thr1755Asn) single nucleotide variant not specified [RCV004090559] Chr11:1242144 [GRCh38]
Chr11:1263374 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.12277A>C (p.Thr4093Pro) single nucleotide variant not specified [RCV004165867] Chr11:1249157 [GRCh38]
Chr11:1270387 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.8246A>G (p.Asn2749Ser) single nucleotide variant not specified [RCV004119919] Chr11:1245126 [GRCh38]
Chr11:1266356 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.13688C>T (p.Thr4563Ile) single nucleotide variant not specified [RCV004083736] Chr11:1250568 [GRCh38]
Chr11:1271798 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.6851C>T (p.Ala2284Val) single nucleotide variant not specified [RCV004166209] Chr11:1243731 [GRCh38]
Chr11:1264961 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.14114T>C (p.Ile4705Thr) single nucleotide variant not specified [RCV004129688] Chr11:1250994 [GRCh38]
Chr11:1272224 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.16198C>T (p.Leu5400Phe) single nucleotide variant not specified [RCV004142509] Chr11:1256732 [GRCh38]
Chr11:1277962 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.9785T>A (p.Met3262Lys) single nucleotide variant not specified [RCV004114665] Chr11:1246665 [GRCh38]
Chr11:1267895 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.6177C>A (p.Phe2059Leu) single nucleotide variant not specified [RCV004103492] Chr11:1243057 [GRCh38]
Chr11:1264287 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.2384C>T (p.Ala795Val) single nucleotide variant not specified [RCV004084239] Chr11:1234211 [GRCh38]
Chr11:1255441 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.8663C>T (p.Pro2888Leu) single nucleotide variant not specified [RCV004085069] Chr11:1245543 [GRCh38]
Chr11:1266773 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.9989C>T (p.Pro3330Leu) single nucleotide variant not specified [RCV004180505] Chr11:1246869 [GRCh38]
Chr11:1268099 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.8540A>C (p.Lys2847Thr) single nucleotide variant not specified [RCV004082063] Chr11:1245420 [GRCh38]
Chr11:1266650 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.10589C>T (p.Pro3530Leu) single nucleotide variant not specified [RCV004075420] Chr11:1247469 [GRCh38]
Chr11:1268699 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.2213C>A (p.Thr738Asn) single nucleotide variant not specified [RCV004075421] Chr11:1233160 [GRCh38]
Chr11:1254390 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.8252C>G (p.Thr2751Arg) single nucleotide variant not specified [RCV004075422] Chr11:1245132 [GRCh38]
Chr11:1266362 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.5765C>T (p.Ser1922Phe) single nucleotide variant not specified [RCV004133751] Chr11:1242645 [GRCh38]
Chr11:1263875 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.10267G>A (p.Ala3423Thr) single nucleotide variant not specified [RCV004083837] Chr11:1247147 [GRCh38]
Chr11:1268377 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.10045C>A (p.Pro3349Thr) single nucleotide variant not specified [RCV004081383] Chr11:1246925 [GRCh38]
Chr11:1268155 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.6833C>G (p.Ala2278Gly) single nucleotide variant not specified [RCV004084311] Chr11:1243713 [GRCh38]
Chr11:1264943 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.10805G>A (p.Arg3602His) single nucleotide variant not specified [RCV004085700] Chr11:1247685 [GRCh38]
Chr11:1268915 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.16532A>T (p.Asp5511Val) single nucleotide variant not specified [RCV004180498] Chr11:1258180 [GRCh38]
Chr11:1279410 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.8545C>T (p.Arg2849Cys) single nucleotide variant not specified [RCV004089368] Chr11:1245425 [GRCh38]
Chr11:1266655 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.13451C>T (p.Thr4484Met) single nucleotide variant not specified [RCV004211233] Chr11:1250331 [GRCh38]
Chr11:1271561 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.12718C>T (p.Pro4240Ser) single nucleotide variant not provided [RCV003427667]|not specified [RCV004216745] Chr11:1249598 [GRCh38]
Chr11:1270828 [GRCh37]
Chr11:11p15.5
likely benign|uncertain significance
NM_002458.3(MUC5B):c.7433C>T (p.Thr2478Ile) single nucleotide variant not specified [RCV004216796] Chr11:1244313 [GRCh38]
Chr11:1265543 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.16373C>G (p.Pro5458Arg) single nucleotide variant not specified [RCV004077004] Chr11:1257633 [GRCh38]
Chr11:1278863 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.10466C>T (p.Thr3489Met) single nucleotide variant not specified [RCV004083465] Chr11:1247346 [GRCh38]
Chr11:1268576 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.7403C>T (p.Pro2468Leu) single nucleotide variant not specified [RCV004077673] Chr11:1244283 [GRCh38]
Chr11:1265513 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.8722G>A (p.Val2908Ile) single nucleotide variant not specified [RCV004083558] Chr11:1245602 [GRCh38]
Chr11:1266832 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.11172G>T (p.Glu3724Asp) single nucleotide variant not specified [RCV004078223] Chr11:1248052 [GRCh38]
Chr11:1269282 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.13916C>T (p.Pro4639Leu) single nucleotide variant not specified [RCV004078283] Chr11:1250796 [GRCh38]
Chr11:1272026 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.6665T>C (p.Leu2222Ser) single nucleotide variant not specified [RCV004082658] Chr11:1243545 [GRCh38]
Chr11:1264775 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.6790T>C (p.Ser2264Pro) single nucleotide variant not specified [RCV004081435] Chr11:1243670 [GRCh38]
Chr11:1264900 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.11431C>G (p.Gln3811Glu) single nucleotide variant not specified [RCV004083408] Chr11:1248311 [GRCh38]
Chr11:1269541 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.4015C>T (p.Arg1339Cys) single nucleotide variant not specified [RCV004094454] Chr11:1240895 [GRCh38]
Chr11:1262125 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.2449C>T (p.Arg817Trp) single nucleotide variant not specified [RCV004083762] Chr11:1234276 [GRCh38]
Chr11:1255506 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.12705C>G (p.Ser4235Arg) single nucleotide variant not specified [RCV004103490] Chr11:1249585 [GRCh38]
Chr11:1270815 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.13163C>T (p.Thr4388Met) single nucleotide variant not specified [RCV004086527] Chr11:1250043 [GRCh38]
Chr11:1271273 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.9983T>G (p.Leu3328Arg) single nucleotide variant not specified [RCV004084996] Chr11:1246863 [GRCh38]
Chr11:1268093 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.7496C>T (p.Thr2499Met) single nucleotide variant not specified [RCV004091357] Chr11:1244376 [GRCh38]
Chr11:1265606 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.12145T>C (p.Ser4049Pro) single nucleotide variant not specified [RCV004187693] Chr11:1249025 [GRCh38]
Chr11:1270255 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.6236C>A (p.Thr2079Lys) single nucleotide variant not provided [RCV004809912]|not specified [RCV004075311] Chr11:1243116 [GRCh38]
Chr11:1264346 [GRCh37]
Chr11:11p15.5
likely benign|uncertain significance
NM_002458.3(MUC5B):c.6407C>T (p.Thr2136Met) single nucleotide variant not specified [RCV004077579] Chr11:1243287 [GRCh38]
Chr11:1264517 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.11729C>T (p.Pro3910Leu) single nucleotide variant not specified [RCV004290385] Chr11:1248609 [GRCh38]
Chr11:1269839 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.14513T>C (p.Leu4838Pro) single nucleotide variant not specified [RCV004290404] Chr11:1251393 [GRCh38]
Chr11:1272623 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.5938G>T (p.Val1980Phe) single nucleotide variant not specified [RCV004290512] Chr11:1242818 [GRCh38]
Chr11:1264048 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.17193C>G (p.His5731Gln) single nucleotide variant not provided [RCV004696394]|not specified [RCV004273219] Chr11:1261512 [GRCh38]
Chr11:1282742 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.5830A>G (p.Thr1944Ala) single nucleotide variant not specified [RCV004264093] Chr11:1242710 [GRCh38]
Chr11:1263940 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.547T>C (p.Phe183Leu) single nucleotide variant not specified [RCV004281046] Chr11:1227116 [GRCh38]
Chr11:1248346 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.6467C>T (p.Thr2156Ile) single nucleotide variant not specified [RCV004281209] Chr11:1243347 [GRCh38]
Chr11:1264577 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.9742G>C (p.Ala3248Pro) single nucleotide variant not specified [RCV004261526] Chr11:1246622 [GRCh38]
Chr11:1267852 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.5855A>G (p.Lys1952Arg) single nucleotide variant not specified [RCV004285121] Chr11:1242735 [GRCh38]
Chr11:1263965 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.4222G>A (p.Ala1408Thr) single nucleotide variant not specified [RCV004267711] Chr11:1241102 [GRCh38]
Chr11:1262332 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.12131C>T (p.Pro4044Leu) single nucleotide variant not specified [RCV004274734] Chr11:1249011 [GRCh38]
Chr11:1270241 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.6176T>A (p.Phe2059Tyr) single nucleotide variant not specified [RCV004276825] Chr11:1243056 [GRCh38]
Chr11:1264286 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.11282C>T (p.Thr3761Ile) single nucleotide variant not specified [RCV004278762] Chr11:1248162 [GRCh38]
Chr11:1269392 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.3275C>A (p.Thr1092Asn) single nucleotide variant not specified [RCV004277711] Chr11:1237142 [GRCh38]
Chr11:1258372 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.13645A>G (p.Thr4549Ala) single nucleotide variant not specified [RCV004275077] Chr11:1250525 [GRCh38]
Chr11:1271755 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.5195C>G (p.Thr1732Arg) single nucleotide variant not specified [RCV004269948] Chr11:1242075 [GRCh38]
Chr11:1263305 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.9353C>A (p.Ala3118Asp) single nucleotide variant not specified [RCV004257362] Chr11:1246233 [GRCh38]
Chr11:1267463 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.13132T>C (p.Ser4378Pro) single nucleotide variant not specified [RCV004275254] Chr11:1250012 [GRCh38]
Chr11:1271242 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.1213A>C (p.Ser405Arg) single nucleotide variant not specified [RCV004279109] Chr11:1229800 [GRCh38]
Chr11:1251030 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.14516C>T (p.Ser4839Phe) single nucleotide variant not specified [RCV004270446] Chr11:1251396 [GRCh38]
Chr11:1272626 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.3196G>A (p.Ala1066Thr) single nucleotide variant not specified [RCV004285367] Chr11:1237063 [GRCh38]
Chr11:1258293 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.13871C>T (p.Thr4624Ile) single nucleotide variant not specified [RCV004276364] Chr11:1250751 [GRCh38]
Chr11:1271981 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.9070G>C (p.Val3024Leu) single nucleotide variant not specified [RCV004270305] Chr11:1245950 [GRCh38]
Chr11:1267180 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.6437C>T (p.Thr2146Ile) single nucleotide variant not specified [RCV004271519] Chr11:1243317 [GRCh38]
Chr11:1264547 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.9044C>T (p.Thr3015Ile) single nucleotide variant not specified [RCV004266574] Chr11:1245924 [GRCh38]
Chr11:1267154 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.5075C>G (p.Thr1692Ser) single nucleotide variant not specified [RCV004259383] Chr11:1241955 [GRCh38]
Chr11:1263185 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.14614G>C (p.Gly4872Arg) single nucleotide variant not specified [RCV004261554] Chr11:1251494 [GRCh38]
Chr11:1272724 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.16028T>G (p.Val5343Gly) single nucleotide variant not specified [RCV004285120] Chr11:1255520 [GRCh38]
Chr11:1276750 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.10163C>A (p.Pro3388Gln) single nucleotide variant not specified [RCV004266717] Chr11:1247043 [GRCh38]
Chr11:1268273 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.10565C>A (p.Pro3522His) single nucleotide variant not specified [RCV004295441] Chr11:1247445 [GRCh38]
Chr11:1268675 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.3125G>A (p.Arg1042Gln) single nucleotide variant not specified [RCV004278491] Chr11:1236992 [GRCh38]
Chr11:1258222 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.10897G>T (p.Val3633Phe) single nucleotide variant not specified [RCV004272466] Chr11:1247777 [GRCh38]
Chr11:1269007 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.9581A>G (p.Lys3194Arg) single nucleotide variant not specified [RCV004257375] Chr11:1246461 [GRCh38]
Chr11:1267691 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.10402C>T (p.Arg3468Cys) single nucleotide variant not specified [RCV004257428] Chr11:1247282 [GRCh38]
Chr11:1268512 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.13852T>C (p.Trp4618Arg) single nucleotide variant not specified [RCV004265221] Chr11:1250732 [GRCh38]
Chr11:1271962 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.10583C>G (p.Thr3528Ser) single nucleotide variant not specified [RCV004279141] Chr11:1247463 [GRCh38]
Chr11:1268693 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.3531A>T (p.Lys1177Asn) single nucleotide variant not specified [RCV004306693] Chr11:1239514 [GRCh38]
Chr11:1260744 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.12023C>T (p.Thr4008Met) single nucleotide variant not specified [RCV004259551] Chr11:1248903 [GRCh38]
Chr11:1270133 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.6727G>A (p.Gly2243Ser) single nucleotide variant not specified [RCV004261798] Chr11:1243607 [GRCh38]
Chr11:1264837 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.2099G>T (p.Arg700Leu) single nucleotide variant not specified [RCV004308741] Chr11:1233046 [GRCh38]
Chr11:1254276 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.9820G>C (p.Val3274Leu) single nucleotide variant not specified [RCV004312125] Chr11:1246700 [GRCh38]
Chr11:1267930 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.15400C>T (p.Arg5134Cys) single nucleotide variant not specified [RCV004265031] Chr11:1254274 [GRCh38]
Chr11:1275504 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.9032T>A (p.Ile3011Asn) single nucleotide variant not specified [RCV004269900] Chr11:1245912 [GRCh38]
Chr11:1267142 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.8174C>T (p.Thr2725Ile) single nucleotide variant not specified [RCV004270270] Chr11:1245054 [GRCh38]
Chr11:1266284 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.1025G>A (p.Cys342Tyr) single nucleotide variant not specified [RCV004278706] Chr11:1229218 [GRCh38]
Chr11:1250448 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.6572C>T (p.Pro2191Leu) single nucleotide variant not specified [RCV004261973] Chr11:1243452 [GRCh38]
Chr11:1264682 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.11348G>T (p.Arg3783Ile) single nucleotide variant not provided [RCV004597644] Chr11:1248228 [GRCh38]
Chr11:1269458 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.5044G>A (p.Glu1682Lys) single nucleotide variant not provided [RCV003427722]|not specified [RCV004302100] Chr11:1241924 [GRCh38]
Chr11:1263154 [GRCh37]
Chr11:11p15.5
likely benign|uncertain significance
NM_002458.3(MUC5B):c.9259C>G (p.Pro3087Ala) single nucleotide variant not specified [RCV004325999] Chr11:1246139 [GRCh38]
Chr11:1267369 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.5108C>T (p.Thr1703Met) single nucleotide variant not specified [RCV004318208] Chr11:1241988 [GRCh38]
Chr11:1263218 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.13097T>C (p.Leu4366Pro) single nucleotide variant not specified [RCV004312860] Chr11:1249977 [GRCh38]
Chr11:1271207 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.1228T>G (p.Ser410Ala) single nucleotide variant not specified [RCV004302734] Chr11:1230012 [GRCh38]
Chr11:1251242 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.11519C>G (p.Thr3840Arg) single nucleotide variant not specified [RCV004320253] Chr11:1248399 [GRCh38]
Chr11:1269629 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.70+8C>T single nucleotide variant not provided [RCV003424590] Chr11:1223201 [GRCh38]
Chr11:1244431 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.642G>A (p.Pro214=) single nucleotide variant not provided [RCV003424592] Chr11:1227373 [GRCh38]
Chr11:1248603 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.976C>T (p.Pro326Ser) single nucleotide variant not provided [RCV003424593] Chr11:1228765 [GRCh38]
Chr11:1249995 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.1422C>T (p.Asn474=) single nucleotide variant not provided [RCV003424594] Chr11:1230552 [GRCh38]
Chr11:1251782 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.1611G>A (p.Leu537=) single nucleotide variant not provided [RCV003424595] Chr11:1231493 [GRCh38]
Chr11:1252723 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.2139C>T (p.Arg713=) single nucleotide variant not provided [RCV003424597] Chr11:1233086 [GRCh38]
Chr11:1254316 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.2463G>A (p.Thr821=) single nucleotide variant not provided [RCV003424598] Chr11:1234290 [GRCh38]
Chr11:1255520 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.4005C>T (p.Arg1335=) single nucleotide variant not provided [RCV003424606] Chr11:1240885 [GRCh38]
Chr11:1262115 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.4053C>T (p.Pro1351=) single nucleotide variant not provided [RCV003424607] Chr11:1240933 [GRCh38]
Chr11:1262163 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.5538G>A (p.Val1846=) single nucleotide variant not provided [RCV003424616] Chr11:1242418 [GRCh38]
Chr11:1263648 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.5703G>A (p.Pro1901=) single nucleotide variant not provided [RCV003424618] Chr11:1242583 [GRCh38]
Chr11:1263813 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.5708C>T (p.Thr1903Met) single nucleotide variant not provided [RCV003424619] Chr11:1242588 [GRCh38]
Chr11:1263818 [GRCh37]
Chr11:11p15.5
benign
NM_002458.3(MUC5B):c.5709G>A (p.Thr1903=) single nucleotide variant not provided [RCV003424620] Chr11:1242589 [GRCh38]
Chr11:1263819 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.6594C>G (p.His2198Gln) single nucleotide variant not provided [RCV003424631] Chr11:1243474 [GRCh38]
Chr11:1264704 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.7626C>T (p.Ser2542=) single nucleotide variant not provided [RCV003424642] Chr11:1244506 [GRCh38]
Chr11:1265736 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.7719T>C (p.Thr2573=) single nucleotide variant not provided [RCV003424644] Chr11:1244599 [GRCh38]
Chr11:1265829 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.8367G>A (p.Thr2789=) single nucleotide variant not provided [RCV003424653] Chr11:1245247 [GRCh38]
Chr11:1266477 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.9837G>A (p.Val3279=) single nucleotide variant not provided [RCV003424669] Chr11:1246717 [GRCh38]
Chr11:1267947 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.9926C>T (p.Pro3309Leu) single nucleotide variant not provided [RCV003424671] Chr11:1246806 [GRCh38]
Chr11:1268036 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.10179G>A (p.Thr3393=) single nucleotide variant not provided [RCV003424675] Chr11:1247059 [GRCh38]
Chr11:1268289 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.11205C>T (p.Thr3735=) single nucleotide variant not provided [RCV003424684] Chr11:1248085 [GRCh38]
Chr11:1269315 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.13296G>A (p.Ala4432=) single nucleotide variant not provided [RCV003424704] Chr11:1250176 [GRCh38]
Chr11:1271406 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.13374C>T (p.Thr4458=) single nucleotide variant not provided [RCV003424707] Chr11:1250254 [GRCh38]
Chr11:1271484 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.13704G>A (p.Thr4568=) single nucleotide variant not provided [RCV003424711] Chr11:1250584 [GRCh38]
Chr11:1271814 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.13784C>G (p.Thr4595Ser) single nucleotide variant not provided [RCV003424713] Chr11:1250664 [GRCh38]
Chr11:1271894 [GRCh37]
Chr11:11p15.5
benign
NM_002458.3(MUC5B):c.14449C>T (p.Arg4817Trp) single nucleotide variant not provided [RCV003424718] Chr11:1251329 [GRCh38]
Chr11:1272559 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.14985C>T (p.Ser4995=) single nucleotide variant not provided [RCV003424726] Chr11:1252464 [GRCh38]
Chr11:1273694 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.17058C>T (p.Pro5686=) single nucleotide variant not provided [RCV003424729] Chr11:1260717 [GRCh38]
Chr11:1281947 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.10160C>A (p.Pro3387His) single nucleotide variant not specified [RCV004334301] Chr11:1247040 [GRCh38]
Chr11:1268270 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.5231G>C (p.Ser1744Thr) single nucleotide variant not specified [RCV004345733] Chr11:1242111 [GRCh38]
Chr11:1263341 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.15327T>G (p.Phe5109Leu) single nucleotide variant not specified [RCV004345734] Chr11:1254201 [GRCh38]
Chr11:1275431 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.9539C>T (p.Thr3180Met) single nucleotide variant not provided [RCV003427747]|not specified [RCV004343589] Chr11:1246419 [GRCh38]
Chr11:1267649 [GRCh37]
Chr11:11p15.5
benign|uncertain significance
NM_002458.3(MUC5B):c.9556A>G (p.Thr3186Ala) single nucleotide variant not specified [RCV004356759] Chr11:1246436 [GRCh38]
Chr11:1267666 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.12326C>A (p.Thr4109Asn) single nucleotide variant not specified [RCV004347961] Chr11:1249206 [GRCh38]
Chr11:1270436 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.5689C>A (p.Pro1897Thr) single nucleotide variant not specified [RCV004358990] Chr11:1242569 [GRCh38]
Chr11:1263799 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.1970G>A (p.Arg657Gln) single nucleotide variant not specified [RCV004361475] Chr11:1232675 [GRCh38]
Chr11:1253905 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.7798C>T (p.Pro2600Ser) single nucleotide variant not specified [RCV004365760] Chr11:1244678 [GRCh38]
Chr11:1265908 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.11783C>T (p.Thr3928Ile) single nucleotide variant not specified [RCV004360351] Chr11:1248663 [GRCh38]
Chr11:1269893 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.10018C>A (p.Pro3340Thr) single nucleotide variant not specified [RCV004351644] Chr11:1246898 [GRCh38]
Chr11:1268128 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.304G>A (p.Val102Met) single nucleotide variant not specified [RCV004358620] Chr11:1226719 [GRCh38]
Chr11:1247949 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.10079C>A (p.Thr3360Lys) single nucleotide variant not specified [RCV004341189] Chr11:1246959 [GRCh38]
Chr11:1268189 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.5206G>A (p.Ala1736Thr) single nucleotide variant not specified [RCV004353731] Chr11:1242086 [GRCh38]
Chr11:1263316 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.9344C>T (p.Thr3115Met) single nucleotide variant not specified [RCV004348131] Chr11:1246224 [GRCh38]
Chr11:1267454 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.8333C>A (p.Thr2778Asn) single nucleotide variant not specified [RCV004348136] Chr11:1245213 [GRCh38]
Chr11:1266443 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.13999C>G (p.Pro4667Ala) single nucleotide variant not specified [RCV004357912] Chr11:1250879 [GRCh38]
Chr11:1272109 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.196A>G (p.Ser66Gly) single nucleotide variant not specified [RCV004359729] Chr11:1226273 [GRCh38]
Chr11:1247503 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.7094A>G (p.Gln2365Arg) single nucleotide variant not specified [RCV004350971] Chr11:1243974 [GRCh38]
Chr11:1265204 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.8765A>G (p.Gln2922Arg) single nucleotide variant not specified [RCV004350972] Chr11:1245645 [GRCh38]
Chr11:1266875 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.7220T>C (p.Phe2407Ser) single nucleotide variant not specified [RCV004350468] Chr11:1244100 [GRCh38]
Chr11:1265330 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.10706C>T (p.Thr3569Met) single nucleotide variant not provided [RCV003427741]|not specified [RCV004341058] Chr11:1247586 [GRCh38]
Chr11:1268816 [GRCh37]
Chr11:11p15.5
likely benign|uncertain significance
NM_002458.3(MUC5B):c.9727T>A (p.Ser3243Thr) single nucleotide variant not specified [RCV004346976] Chr11:1246607 [GRCh38]
Chr11:1267837 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.16766C>T (p.Thr5589Ile) single nucleotide variant not specified [RCV004352716] Chr11:1259808 [GRCh38]
Chr11:1281038 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.11663C>T (p.Pro3888Leu) single nucleotide variant not specified [RCV004364008] Chr11:1248543 [GRCh38]
Chr11:1269773 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.7922C>T (p.Thr2641Ile) single nucleotide variant not specified [RCV004363925] Chr11:1244802 [GRCh38]
Chr11:1266032 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.13100C>T (p.Thr4367Ile) single nucleotide variant not specified [RCV004358157] Chr11:1249980 [GRCh38]
Chr11:1271210 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.11938G>A (p.Ala3980Thr) single nucleotide variant not specified [RCV004347925] Chr11:1248818 [GRCh38]
Chr11:1270048 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.7899G>T (p.Trp2633Cys) single nucleotide variant not specified [RCV004359808] Chr11:1244779 [GRCh38]
Chr11:1266009 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.3280G>A (p.Ala1094Thr) single nucleotide variant not provided [RCV003456741] Chr11:1237147 [GRCh38]
Chr11:1258377 [GRCh37]
Chr11:11p15.5
benign
NM_002458.3(MUC5B):c.3539G>A (p.Arg1180Gln) single nucleotide variant not specified [RCV004350880] Chr11:1239522 [GRCh38]
Chr11:1260752 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.6854C>T (p.Thr2285Met) single nucleotide variant not specified [RCV004350221] Chr11:1243734 [GRCh38]
Chr11:1264964 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.6809C>T (p.Thr2270Met) single nucleotide variant not specified [RCV004338732] Chr11:1243689 [GRCh38]
Chr11:1264919 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.14736C>G (p.Ser4912Arg) single nucleotide variant not specified [RCV004358008] Chr11:1251616 [GRCh38]
Chr11:1272846 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.13489C>A (p.Pro4497Thr) single nucleotide variant not specified [RCV004340692] Chr11:1250369 [GRCh38]
Chr11:1271599 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.6818C>T (p.Pro2273Leu) single nucleotide variant not specified [RCV004343957] Chr11:1243698 [GRCh38]
Chr11:1264928 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.13726G>A (p.Gly4576Ser) single nucleotide variant not specified [RCV004350539] Chr11:1250606 [GRCh38]
Chr11:1271836 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.12448G>A (p.Gly4150Arg) single nucleotide variant not specified [RCV004347587] Chr11:1249328 [GRCh38]
Chr11:1270558 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.12536A>G (p.Gln4179Arg) single nucleotide variant not specified [RCV004346380] Chr11:1249416 [GRCh38]
Chr11:1270646 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.10105G>A (p.Val3369Met) single nucleotide variant not specified [RCV004334613] Chr11:1246985 [GRCh38]
Chr11:1268215 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.16483C>A (p.Pro5495Thr) single nucleotide variant not specified [RCV004365546] Chr11:1258131 [GRCh38]
Chr11:1279361 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.11066C>T (p.Thr3689Met) single nucleotide variant not provided [RCV003456744] Chr11:1247946 [GRCh38]
Chr11:1269176 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.11206G>A (p.Gly3736Arg) single nucleotide variant not provided [RCV003456745]|not specified [RCV004364723] Chr11:1248086 [GRCh38]
Chr11:1269316 [GRCh37]
Chr11:11p15.5
likely benign|uncertain significance
NM_002458.3(MUC5B):c.3087C>T (p.Phe1029=) single nucleotide variant not provided [RCV003424600] Chr11:1236954 [GRCh38]
Chr11:1258184 [GRCh37]
Chr11:11p15.5
benign
NM_002458.3(MUC5B):c.3768T>G (p.Leu1256=) single nucleotide variant not provided [RCV003424604] Chr11:1240084 [GRCh38]
Chr11:1261314 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.4830G>A (p.Pro1610=) single nucleotide variant not provided [RCV003424612] Chr11:1241710 [GRCh38]
Chr11:1262940 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.6459T>A (p.Pro2153=) single nucleotide variant not provided [RCV003424630] Chr11:1243339 [GRCh38]
Chr11:1264569 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.7005C>G (p.Gly2335=) single nucleotide variant not provided [RCV003424639] Chr11:1243885 [GRCh38]
Chr11:1265115 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.7665C>T (p.Thr2555=) single nucleotide variant not provided [RCV003424643] Chr11:1244545 [GRCh38]
Chr11:1265775 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.7748C>T (p.Thr2583Met) single nucleotide variant not provided [RCV003424645] Chr11:1244628 [GRCh38]
Chr11:1265858 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.7929A>T (p.Arg2643Ser) single nucleotide variant not provided [RCV003424647] Chr11:1244809 [GRCh38]
Chr11:1266039 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.8328A>G (p.Ser2776=) single nucleotide variant not provided [RCV003424651] Chr11:1245208 [GRCh38]
Chr11:1266438 [GRCh37]
Chr11:11p15.5
benign|likely benign
NM_002458.3(MUC5B):c.8343C>G (p.Thr2781=) single nucleotide variant not provided [RCV003424652] Chr11:1245223 [GRCh38]
Chr11:1266453 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.8496C>T (p.His2832=) single nucleotide variant not provided [RCV003424654] Chr11:1245376 [GRCh38]
Chr11:1266606 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.8905G>A (p.Gly2969Ser) single nucleotide variant not provided [RCV003424658] Chr11:1245785 [GRCh38]
Chr11:1267015 [GRCh37]
Chr11:11p15.5
benign
NM_002458.3(MUC5B):c.9742G>A (p.Ala3248Thr) single nucleotide variant not provided [RCV003424667] Chr11:1246622 [GRCh38]
Chr11:1267852 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.10882C>A (p.Arg3628=) single nucleotide variant not provided [RCV003424681] Chr11:1247762 [GRCh38]
Chr11:1268992 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.11436C>T (p.Thr3812=) single nucleotide variant not provided [RCV003424685] Chr11:1248316 [GRCh38]
Chr11:1269546 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.11724C>T (p.Ser3908=) single nucleotide variant not provided [RCV003424690] Chr11:1248604 [GRCh38]
Chr11:1269834 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.12291GGCCAC[1] (p.4098AT[1]) microsatellite not provided [RCV003424696] Chr11:1249167..1249172 [GRCh38]
Chr11:1270397..1270402 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.12657T>C (p.Arg4219=) single nucleotide variant not provided [RCV003424698] Chr11:1249537 [GRCh38]
Chr11:1270767 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.13842G>T (p.Thr4614=) single nucleotide variant not provided [RCV003424714] Chr11:1250722 [GRCh38]
Chr11:1271952 [GRCh37]
Chr11:11p15.5
likely benign
GRCh37/hg19 11p15.5-15.4(chr11:192764-3362853)x3 copy number gain not provided [RCV003484828] Chr11:192764..3362853 [GRCh37]
Chr11:11p15.5-15.4
pathogenic
NM_002458.3(MUC5B):c.10187C>T (p.Thr3396Met) single nucleotide variant not provided [RCV003456743]|not specified [RCV004364722] Chr11:1247067 [GRCh38]
Chr11:1268297 [GRCh37]
Chr11:11p15.5
benign|uncertain significance
NM_002458.3(MUC5B):c.3436C>A (p.Arg1146=) single nucleotide variant not provided [RCV003424603] Chr11:1239009 [GRCh38]
Chr11:1260239 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.6357A>C (p.Thr2119=) single nucleotide variant not provided [RCV003424628] Chr11:1243237 [GRCh38]
Chr11:1264467 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.8193C>T (p.Ser2731=) single nucleotide variant not provided [RCV003424649] Chr11:1245073 [GRCh38]
Chr11:1266303 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.9084G>C (p.Thr3028=) single nucleotide variant not provided [RCV003424661] Chr11:1245964 [GRCh38]
Chr11:1267194 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.11520G>A (p.Thr3840=) single nucleotide variant not provided [RCV003424688] Chr11:1248400 [GRCh38]
Chr11:1269630 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.11624T>C (p.Val3875Ala) single nucleotide variant not provided [RCV003424689] Chr11:1248504 [GRCh38]
Chr11:1269734 [GRCh37]
Chr11:11p15.5
benign|likely benign
NM_002458.3(MUC5B):c.13389C>T (p.Thr4463=) single nucleotide variant not provided [RCV003424708] Chr11:1250269 [GRCh38]
Chr11:1271499 [GRCh37]
Chr11:11p15.5
benign
NM_002458.3(MUC5B):c.14896G>A (p.Gly4966Ser) single nucleotide variant not provided [RCV003424724] Chr11:1252375 [GRCh38]
Chr11:1273605 [GRCh37]
Chr11:11p15.5
benign|likely benign
NM_002458.3(MUC5B):c.1923C>G (p.Pro641=) single nucleotide variant not provided [RCV003424596] Chr11:1232529 [GRCh38]
Chr11:1253759 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.5631T>C (p.Leu1877=) single nucleotide variant not provided [RCV003424617] Chr11:1242511 [GRCh38]
Chr11:1263741 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.6626C>T (p.Thr2209Met) single nucleotide variant not provided [RCV003424633] Chr11:1243506 [GRCh38]
Chr11:1264736 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.6831G>A (p.Thr2277=) single nucleotide variant not provided [RCV003424635] Chr11:1243711 [GRCh38]
Chr11:1264941 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.7051G>A (p.Val2351Ile) single nucleotide variant not provided [RCV003424640] Chr11:1243931 [GRCh38]
Chr11:1265161 [GRCh37]
Chr11:11p15.5
benign|likely benign
NM_002458.3(MUC5B):c.7356G>T (p.Thr2452=) single nucleotide variant not provided [RCV003424641] Chr11:1244236 [GRCh38]
Chr11:1265466 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.8501G>C (p.Arg2834Thr) single nucleotide variant not provided [RCV003424655] Chr11:1245381 [GRCh38]
Chr11:1266611 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.9734T>C (p.Leu3245Pro) single nucleotide variant not provided [RCV003424666] Chr11:1246614 [GRCh38]
Chr11:1267844 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.10239T>A (p.Thr3413=) single nucleotide variant not provided [RCV003424676] Chr11:1247119 [GRCh38]
Chr11:1268349 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.11491G>T (p.Ala3831Ser) single nucleotide variant not provided [RCV003424687] Chr11:1248371 [GRCh38]
Chr11:1269601 [GRCh37]
Chr11:11p15.5
benign|likely benign
NM_002458.3(MUC5B):c.11871C>T (p.Thr3957=) single nucleotide variant not provided [RCV003424692] Chr11:1248751 [GRCh38]
Chr11:1269981 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.16443G>A (p.Thr5481=) single nucleotide variant not provided [RCV004810038] Chr11:1257703 [GRCh38]
Chr11:1278933 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.14109A>T (p.Thr4703=) single nucleotide variant not provided [RCV003424716] Chr11:1250989 [GRCh38]
Chr11:1272219 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.14439G>A (p.Leu4813=) single nucleotide variant not provided [RCV003424717] Chr11:1251319 [GRCh38]
Chr11:1272549 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.14973G>A (p.Pro4991=) single nucleotide variant not provided [RCV003424725] Chr11:1252452 [GRCh38]
Chr11:1273682 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.356G>A (p.Arg119His) single nucleotide variant not provided [RCV003424591] Chr11:1226771 [GRCh38]
Chr11:1248001 [GRCh37]
Chr11:11p15.5
benign
NM_002458.3(MUC5B):c.5487G>T (p.Glu1829Asp) single nucleotide variant not provided [RCV003424614] Chr11:1242367 [GRCh38]
Chr11:1263597 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.5496G>A (p.Ala1832=) single nucleotide variant not provided [RCV003424615] Chr11:1242376 [GRCh38]
Chr11:1263606 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.6078G>A (p.Thr2026=) single nucleotide variant not provided [RCV003424623] Chr11:1242958 [GRCh38]
Chr11:1264188 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.6450C>G (p.Ser2150=) single nucleotide variant not provided [RCV003424629] Chr11:1243330 [GRCh38]
Chr11:1264560 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.8939C>T (p.Thr2980Met) single nucleotide variant not provided [RCV003424659] Chr11:1245819 [GRCh38]
Chr11:1267049 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.9075G>A (p.Leu3025=) single nucleotide variant not provided [RCV003424660] Chr11:1245955 [GRCh38]
Chr11:1267185 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.9918C>T (p.Thr3306=) single nucleotide variant not provided [RCV003424670] Chr11:1246798 [GRCh38]
Chr11:1268028 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.9929C>G (p.Thr3310Ser) single nucleotide variant not provided [RCV003424673] Chr11:1246809 [GRCh38]
Chr11:1268039 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.11859G>A (p.Thr3953=) single nucleotide variant not provided [RCV003424691] Chr11:1248739 [GRCh38]
Chr11:1269969 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.12042A>G (p.Arg4014=) single nucleotide variant not provided [RCV003424693] Chr11:1248922 [GRCh38]
Chr11:1270152 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.13515T>C (p.Thr4505=) single nucleotide variant not provided [RCV003424709] Chr11:1250395 [GRCh38]
Chr11:1271625 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.13923C>T (p.Ser4641=) single nucleotide variant not provided [RCV003424715] Chr11:1250803 [GRCh38]
Chr11:1272033 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.16104C>T (p.Cys5368=) single nucleotide variant not provided [RCV003424727] Chr11:1256193 [GRCh38]
Chr11:1277423 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.8520G>A (p.Thr2840=) single nucleotide variant not provided [RCV003456742] Chr11:1245400 [GRCh38]
Chr11:1266630 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.4287C>T (p.Tyr1429=) single nucleotide variant not provided [RCV003424610] Chr11:1241167 [GRCh38]
Chr11:1262397 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.4430C>T (p.Thr1477Met) single nucleotide variant not provided [RCV003424611] Chr11:1241310 [GRCh38]
Chr11:1262540 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.6685G>C (p.Glu2229Gln) single nucleotide variant not provided [RCV003424634] Chr11:1243565 [GRCh38]
Chr11:1264795 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.6917T>C (p.Ile2306Thr) single nucleotide variant not provided [RCV003424637] Chr11:1243797 [GRCh38]
Chr11:1265027 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.7827G>A (p.Leu2609=) single nucleotide variant not provided [RCV003424646] Chr11:1244707 [GRCh38]
Chr11:1265937 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.8783G>A (p.Arg2928Gln) single nucleotide variant not provided [RCV003424657] Chr11:1245663 [GRCh38]
Chr11:1266893 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.9213C>T (p.Ser3071=) single nucleotide variant not provided [RCV003424662] Chr11:1246093 [GRCh38]
Chr11:1267323 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.9530C>G (p.Thr3177Ser) single nucleotide variant not provided [RCV003424664] Chr11:1246410 [GRCh38]
Chr11:1267640 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.9819T>C (p.Thr3273=) single nucleotide variant not provided [RCV003424668] Chr11:1246699 [GRCh38]
Chr11:1267929 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.9927G>A (p.Pro3309=) single nucleotide variant not provided [RCV003424672] Chr11:1246807 [GRCh38]
Chr11:1268037 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.10352C>T (p.Thr3451Met) single nucleotide variant not provided [RCV003424678] Chr11:1247232 [GRCh38]
Chr11:1268462 [GRCh37]
Chr11:11p15.5
benign
NM_002458.3(MUC5B):c.10824C>A (p.Val3608=) single nucleotide variant not provided [RCV003424680] Chr11:1247704 [GRCh38]
Chr11:1268934 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.11083A>G (p.Lys3695Glu) single nucleotide variant not provided [RCV003424682] Chr11:1247963 [GRCh38]
Chr11:1269193 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.12516C>G (p.Leu4172=) single nucleotide variant not provided [RCV003424697] Chr11:1249396 [GRCh38]
Chr11:1270626 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.12716T>C (p.Met4239Thr) single nucleotide variant not provided [RCV003424699] Chr11:1249596 [GRCh38]
Chr11:1270826 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.13248G>A (p.Gly4416=) single nucleotide variant not provided [RCV003424703] Chr11:1250128 [GRCh38]
Chr11:1271358 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.13359G>C (p.Pro4453=) single nucleotide variant not provided [RCV003424706] Chr11:1250239 [GRCh38]
Chr11:1271469 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.13542C>T (p.Ala4514=) single nucleotide variant not provided [RCV003424710] Chr11:1250422 [GRCh38]
Chr11:1271652 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.14683C>T (p.Pro4895Ser) single nucleotide variant MUC5B-related disorder [RCV004758935]|not provided [RCV003424722] Chr11:1251563 [GRCh38]
Chr11:1272793 [GRCh37]
Chr11:11p15.5
benign|likely benign
NM_002458.3(MUC5B):c.14687G>T (p.Ser4896Ile) single nucleotide variant not provided [RCV003424723] Chr11:1251567 [GRCh38]
Chr11:1272797 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.3069C>T (p.Cys1023=) single nucleotide variant not provided [RCV003424599] Chr11:1236936 [GRCh38]
Chr11:1258166 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.3216G>A (p.Thr1072=) single nucleotide variant not provided [RCV003424601] Chr11:1237083 [GRCh38]
Chr11:1258313 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.3974C>T (p.Pro1325Leu) single nucleotide variant not provided [RCV003424605] Chr11:1240854 [GRCh38]
Chr11:1262084 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.4174G>A (p.Glu1392Lys) single nucleotide variant not provided [RCV003424608] Chr11:1241054 [GRCh38]
Chr11:1262284 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.5385C>T (p.Asp1795=) single nucleotide variant not provided [RCV003424613] Chr11:1242265 [GRCh38]
Chr11:1263495 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.5754G>A (p.Ala1918=) single nucleotide variant not provided [RCV003424621] Chr11:1242634 [GRCh38]
Chr11:1263864 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.5832C>G (p.Thr1944=) single nucleotide variant not provided [RCV003424622] Chr11:1242712 [GRCh38]
Chr11:1263942 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.6216G>T (p.Thr2072=) single nucleotide variant not provided [RCV003424626] Chr11:1243096 [GRCh38]
Chr11:1264326 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.6218C>T (p.Pro2073Leu) single nucleotide variant not provided [RCV003424627] Chr11:1243098 [GRCh38]
Chr11:1264328 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.6916A>G (p.Ile2306Val) single nucleotide variant not provided [RCV003424636] Chr11:1243796 [GRCh38]
Chr11:1265026 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.8271A>G (p.Arg2757=) single nucleotide variant not provided [RCV003424650] Chr11:1245151 [GRCh38]
Chr11:1266381 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.3381G>A (p.Thr1127=) single nucleotide variant not provided [RCV003424602] Chr11:1238954 [GRCh38]
Chr11:1260184 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.4264C>T (p.Leu1422=) single nucleotide variant not provided [RCV003424609] Chr11:1241144 [GRCh38]
Chr11:1262374 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.6156A>G (p.Pro2052=) single nucleotide variant not provided [RCV003424624] Chr11:1243036 [GRCh38]
Chr11:1264266 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.6206C>T (p.Thr2069Met) single nucleotide variant not provided [RCV003424625] Chr11:1243086 [GRCh38]
Chr11:1264316 [GRCh37]
Chr11:11p15.5
benign
NM_002458.3(MUC5B):c.6599G>A (p.Arg2200Gln) single nucleotide variant not provided [RCV003424632] Chr11:1243479 [GRCh38]
Chr11:1264709 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.6923C>T (p.Thr2308Met) single nucleotide variant not provided [RCV003424638] Chr11:1243803 [GRCh38]
Chr11:1265033 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.8139A>T (p.Thr2713=) single nucleotide variant not provided [RCV003424648] Chr11:1245019 [GRCh38]
Chr11:1266249 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.8745C>G (p.Leu2915=) single nucleotide variant not provided [RCV003424656] Chr11:1245625 [GRCh38]
Chr11:1266855 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.9660C>T (p.Thr3220=) single nucleotide variant not provided [RCV003424665] Chr11:1246540 [GRCh38]
Chr11:1267770 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.10302T>C (p.Thr3434=) single nucleotide variant not provided [RCV003424677] Chr11:1247182 [GRCh38]
Chr11:1268412 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.12853C>A (p.Pro4285Thr) single nucleotide variant not provided [RCV003424702] Chr11:1249733 [GRCh38]
Chr11:1270963 [GRCh37]
Chr11:11p15.5
benign|likely benign
NM_002458.3(MUC5B):c.14460T>A (p.Thr4820=) single nucleotide variant not provided [RCV003424719] Chr11:1251340 [GRCh38]
Chr11:1272570 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.16977A>G (p.Gln5659=) single nucleotide variant not provided [RCV003424728] Chr11:1260636 [GRCh38]
Chr11:1281866 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.9387G>A (p.Pro3129=) single nucleotide variant not provided [RCV003424663] Chr11:1246267 [GRCh38]
Chr11:1267497 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.10053C>T (p.Ser3351=) single nucleotide variant not provided [RCV003424674] Chr11:1246933 [GRCh38]
Chr11:1268163 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.10365C>G (p.His3455Gln) single nucleotide variant not provided [RCV003424679] Chr11:1247245 [GRCh38]
Chr11:1268475 [GRCh37]
Chr11:11p15.5
benign|likely benign
NM_002458.3(MUC5B):c.11135C>T (p.Pro3712Leu) single nucleotide variant not provided [RCV003424683] Chr11:1248015 [GRCh38]
Chr11:1269245 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.11490T>C (p.Thr3830=) single nucleotide variant not provided [RCV003424686] Chr11:1248370 [GRCh38]
Chr11:1269600 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.12074G>C (p.Arg4025Pro) single nucleotide variant not provided [RCV003424694] Chr11:1248954 [GRCh38]
Chr11:1270184 [GRCh37]
Chr11:11p15.5
benign
NM_002458.3(MUC5B):c.12089C>T (p.Ser4030Leu) single nucleotide variant not provided [RCV003424695] Chr11:1248969 [GRCh38]
Chr11:1270199 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.12782C>A (p.Ala4261Glu) single nucleotide variant not provided [RCV003424700] Chr11:1249662 [GRCh38]
Chr11:1270892 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.12837C>T (p.Pro4279=) single nucleotide variant not provided [RCV003424701] Chr11:1249717 [GRCh38]
Chr11:1270947 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.13326C>T (p.Ser4442=) single nucleotide variant not provided [RCV003424705] Chr11:1250206 [GRCh38]
Chr11:1271436 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.13737C>G (p.Ala4579=) single nucleotide variant not provided [RCV003424712] Chr11:1250617 [GRCh38]
Chr11:1271847 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.14505G>A (p.Thr4835=) single nucleotide variant not provided [RCV003424720] Chr11:1251385 [GRCh38]
Chr11:1272615 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.14598C>T (p.Thr4866=) single nucleotide variant not provided [RCV003424721] Chr11:1251478 [GRCh38]
Chr11:1272708 [GRCh37]
Chr11:11p15.5
likely benign
GRCh37/hg19 11p15.5-15.4(chr11:230615-8821443)x3 copy number gain Russell-Silver syndrome [RCV003444025] Chr11:230615..8821443 [GRCh37]
Chr11:11p15.5-15.4
pathogenic
NM_002458.3(MUC5B):c.6212T>G (p.Leu2071Arg) single nucleotide variant not provided [RCV004811966] Chr11:1243092 [GRCh38]
Chr11:1264322 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.4910C>T (p.Pro1637Leu) single nucleotide variant not specified [RCV004438199] Chr11:1241790 [GRCh38]
Chr11:1263020 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.17233C>A (p.Pro5745Thr) single nucleotide variant not specified [RCV004437902] Chr11:1261552 [GRCh38]
Chr11:1282782 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.178A>G (p.Thr60Ala) single nucleotide variant not specified [RCV004437912] Chr11:1226255 [GRCh38]
Chr11:1247485 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.1900C>T (p.Arg634Cys) single nucleotide variant not specified [RCV004437920] Chr11:1232506 [GRCh38]
Chr11:1253736 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.2341C>G (p.Leu781Val) single nucleotide variant not specified [RCV004437981] Chr11:1233812 [GRCh38]
Chr11:1255042 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.2539G>T (p.Gly847Trp) single nucleotide variant not specified [RCV004437991] Chr11:1234589 [GRCh38]
Chr11:1255819 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.4134C>G (p.Ile1378Met) single nucleotide variant not specified [RCV004438137] Chr11:1241014 [GRCh38]
Chr11:1262244 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.4373C>G (p.Thr1458Ser) single nucleotide variant not specified [RCV004438157] Chr11:1241253 [GRCh38]
Chr11:1262483 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.4471G>A (p.Val1491Met) single nucleotide variant not specified [RCV004438169] Chr11:1241351 [GRCh38]
Chr11:1262581 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.4925C>A (p.Ala1642Asp) single nucleotide variant not specified [RCV004438202] Chr11:1241805 [GRCh38]
Chr11:1263035 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.3017G>A (p.Arg1006Gln) single nucleotide variant not specified [RCV004438024] Chr11:1236522 [GRCh38]
Chr11:1257752 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.3361G>A (p.Asp1121Asn) single nucleotide variant not specified [RCV004438061] Chr11:1238934 [GRCh38]
Chr11:1260164 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.3509C>A (p.Pro1170His) single nucleotide variant not specified [RCV004438068] Chr11:1239492 [GRCh38]
Chr11:1260722 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.3680A>C (p.Tyr1227Ser) single nucleotide variant not specified [RCV004438092] Chr11:1239895 [GRCh38]
Chr11:1261125 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.5087G>A (p.Arg1696His) single nucleotide variant not specified [RCV004438219] Chr11:1241967 [GRCh38]
Chr11:1263197 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.5654G>A (p.Cys1885Tyr) single nucleotide variant not specified [RCV004438289] Chr11:1242534 [GRCh38]
Chr11:1263764 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.16771T>A (p.Cys5591Ser) single nucleotide variant not specified [RCV004437860] Chr11:1259813 [GRCh38]
Chr11:1281043 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.6830C>T (p.Thr2277Met) single nucleotide variant not specified [RCV004440568] Chr11:1243710 [GRCh38]
Chr11:1264940 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.7024T>A (p.Ser2342Thr) single nucleotide variant not specified [RCV004440616] Chr11:1243904 [GRCh38]
Chr11:1265134 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.7757C>T (p.Thr2586Ile) single nucleotide variant not specified [RCV004440671] Chr11:1244637 [GRCh38]
Chr11:1265867 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.9596C>T (p.Thr3199Met) single nucleotide variant not specified [RCV004442956] Chr11:1246476 [GRCh38]
Chr11:1267706 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.9857C>A (p.Thr3286Lys) single nucleotide variant not specified [RCV004443008] Chr11:1246737 [GRCh38]
Chr11:1267967 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.9953C>T (p.Ala3318Val) single nucleotide variant not specified [RCV004443023] Chr11:1246833 [GRCh38]
Chr11:1268063 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.8552C>T (p.Ser2851Leu) single nucleotide variant not specified [RCV004440799] Chr11:1245432 [GRCh38]
Chr11:1266662 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.1883C>T (p.Pro628Leu) single nucleotide variant not specified [RCV004437915] Chr11:1232489 [GRCh38]
Chr11:1253719 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.1933C>T (p.His645Tyr) single nucleotide variant not specified [RCV004437921] Chr11:1232539 [GRCh38]
Chr11:1253769 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.2000C>A (p.Ser667Tyr) single nucleotide variant not specified [RCV004437934] Chr11:1232705 [GRCh38]
Chr11:1253935 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.2570G>A (p.Cys857Tyr) single nucleotide variant not specified [RCV004437994] Chr11:1234620 [GRCh38]
Chr11:1255850 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.2837C>A (p.Thr946Asn) single nucleotide variant not specified [RCV004438004] Chr11:1235370 [GRCh38]
Chr11:1256600 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.3215C>T (p.Thr1072Met) single nucleotide variant not specified [RCV004438043] Chr11:1237082 [GRCh38]
Chr11:1258312 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.4616A>T (p.His1539Leu) single nucleotide variant not specified [RCV004438179] Chr11:1241496 [GRCh38]
Chr11:1262726 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.4994C>A (p.Thr1665Asn) single nucleotide variant not specified [RCV004438208] Chr11:1241874 [GRCh38]
Chr11:1263104 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.10625C>T (p.Thr3542Ile) single nucleotide variant not specified [RCV004515539] Chr11:1247505 [GRCh38]
Chr11:1268735 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.1028C>T (p.Thr343Met) single nucleotide variant not specified [RCV004515494] Chr11:1229221 [GRCh38]
Chr11:1250451 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.5825C>T (p.Thr1942Met) single nucleotide variant not specified [RCV004438332] Chr11:1242705 [GRCh38]
Chr11:1263935 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.11267C>T (p.Thr3756Met) single nucleotide variant not specified [RCV004515665] Chr11:1248147 [GRCh38]
Chr11:1269377 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.11768C>A (p.Thr3923Asn) single nucleotide variant not specified [RCV004515741] Chr11:1248648 [GRCh38]
Chr11:1269878 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.5921C>T (p.Thr1974Ile) single nucleotide variant not specified [RCV004440436] Chr11:1242801 [GRCh38]
Chr11:1264031 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.6239C>A (p.Thr2080Asn) single nucleotide variant not specified [RCV004440482] Chr11:1243119 [GRCh38]
Chr11:1264349 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.6422C>T (p.Thr2141Met) single nucleotide variant not specified [RCV004440503] Chr11:1243302 [GRCh38]
Chr11:1264532 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.659A>G (p.Tyr220Cys) single nucleotide variant not specified [RCV004440530] Chr11:1227390 [GRCh38]
Chr11:1248620 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.9504C>G (p.Ser3168Arg) single nucleotide variant not specified [RCV004442932] Chr11:1246384 [GRCh38]
Chr11:1267614 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.9554C>T (p.Ser3185Phe) single nucleotide variant not specified [RCV004442939] Chr11:1246434 [GRCh38]
Chr11:1267664 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.12571G>A (p.Val4191Met) single nucleotide variant not specified [RCV004444940] Chr11:1249451 [GRCh38]
Chr11:1270681 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.1289G>A (p.Gly430Glu) single nucleotide variant not specified [RCV004444992] Chr11:1230073 [GRCh38]
Chr11:1251303 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.12953C>T (p.Ser4318Phe) single nucleotide variant not specified [RCV004445006] Chr11:1249833 [GRCh38]
Chr11:1271063 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.6951G>T (p.Gln2317His) single nucleotide variant not specified [RCV004440596] Chr11:1243831 [GRCh38]
Chr11:1265061 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.6956C>T (p.Ala2319Val) single nucleotide variant not specified [RCV004440603] Chr11:1243836 [GRCh38]
Chr11:1265066 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.7129G>A (p.Val2377Met) single nucleotide variant not specified [RCV004440628] Chr11:1244009 [GRCh38]
Chr11:1265239 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.7450G>A (p.Ala2484Thr) single nucleotide variant not specified [RCV004440656] Chr11:1244330 [GRCh38]
Chr11:1265560 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.10201G>A (p.Gly3401Ser) single nucleotide variant not specified [RCV004515482] Chr11:1247081 [GRCh38]
Chr11:1268311 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.10424C>G (p.Thr3475Ser) single nucleotide variant not specified [RCV004515506] Chr11:1247304 [GRCh38]
Chr11:1268534 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.9860C>T (p.Thr3287Ile) single nucleotide variant not specified [RCV004443011] Chr11:1246740 [GRCh38]
Chr11:1267970 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.13475G>A (p.Ser4492Asn) single nucleotide variant not specified [RCV004445062] Chr11:1250355 [GRCh38]
Chr11:1271585 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.13505G>A (p.Gly4502Glu) single nucleotide variant not specified [RCV004445063] Chr11:1250385 [GRCh38]
Chr11:1271615 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.13688C>G (p.Thr4563Arg) single nucleotide variant not specified [RCV004445073] Chr11:1250568 [GRCh38]
Chr11:1271798 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.7925C>A (p.Thr2642Asn) single nucleotide variant not specified [RCV004440701] Chr11:1244805 [GRCh38]
Chr11:1266035 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.10331C>T (p.Thr3444Ile) single nucleotide variant not specified [RCV004515497] Chr11:1247211 [GRCh38]
Chr11:1268441 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.10315C>G (p.Leu3439Val) single nucleotide variant not specified [RCV004515495] Chr11:1247195 [GRCh38]
Chr11:1268425 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.10882C>G (p.Arg3628Gly) single nucleotide variant not specified [RCV004515587] Chr11:1247762 [GRCh38]
Chr11:1268992 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.11021C>T (p.Thr3674Ile) single nucleotide variant not specified [RCV004515603] Chr11:1247901 [GRCh38]
Chr11:1269131 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.11090C>G (p.Thr3697Ser) single nucleotide variant not specified [RCV004515619] Chr11:1247970 [GRCh38]
Chr11:1269200 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.13703C>T (p.Thr4568Met) single nucleotide variant not specified [RCV004445080] Chr11:1250583 [GRCh38]
Chr11:1271813 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.14036C>T (p.Ser4679Leu) single nucleotide variant not specified [RCV004445131] Chr11:1250916 [GRCh38]
Chr11:1272146 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.13602G>T (p.Trp4534Cys) single nucleotide variant not specified [RCV004445068] Chr11:1250482 [GRCh38]
Chr11:1271712 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.8353A>T (p.Thr2785Ser) single nucleotide variant not specified [RCV004440746] Chr11:1245233 [GRCh38]
Chr11:1266463 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.8384C>T (p.Pro2795Leu) single nucleotide variant not specified [RCV004440754] Chr11:1245264 [GRCh38]
Chr11:1266494 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.8432G>A (p.Ser2811Asn) single nucleotide variant not specified [RCV004440760] Chr11:1245312 [GRCh38]
Chr11:1266542 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.11273C>T (p.Thr3758Met) single nucleotide variant not specified [RCV004515669] Chr11:1248153 [GRCh38]
Chr11:1269383 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.11560T>G (p.Ser3854Ala) single nucleotide variant not specified [RCV004515704] Chr11:1248440 [GRCh38]
Chr11:1269670 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.14374G>A (p.Val4792Met) single nucleotide variant not specified [RCV004445171] Chr11:1251254 [GRCh38]
Chr11:1272484 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.14474C>A (p.Thr4825Lys) single nucleotide variant not specified [RCV004445180] Chr11:1251354 [GRCh38]
Chr11:1272584 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.8848G>C (p.Val2950Leu) single nucleotide variant not specified [RCV004440836] Chr11:1245728 [GRCh38]
Chr11:1266958 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.11615G>A (p.Gly3872Asp) single nucleotide variant not specified [RCV004515727] Chr11:1248495 [GRCh38]
Chr11:1269725 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.14986G>A (p.Ala4996Thr) single nucleotide variant not specified [RCV004445222] Chr11:1252465 [GRCh38]
Chr11:1273695 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.15137A>G (p.Asn5046Ser) single nucleotide variant not provided [RCV004810681]|not specified [RCV004445236] Chr11:1252900 [GRCh38]
Chr11:1274130 [GRCh37]
Chr11:11p15.5
likely benign|uncertain significance
NM_002458.3(MUC5B):c.1513A>G (p.Ile505Val) single nucleotide variant not specified [RCV004445241] Chr11:1230978 [GRCh38]
Chr11:1252208 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.9026C>T (p.Thr3009Met) single nucleotide variant not specified [RCV004440862] Chr11:1245906 [GRCh38]
Chr11:1267136 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.1535C>T (p.Ser512Leu) single nucleotide variant not specified [RCV004445252] Chr11:1231000 [GRCh38]
Chr11:1252230 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.15523G>A (p.Gly5175Ser) single nucleotide variant not specified [RCV004445278] Chr11:1254739 [GRCh38]
Chr11:1275969 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.6061A>T (p.Thr2021Ser) single nucleotide variant not specified [RCV004440458] Chr11:1242941 [GRCh38]
Chr11:1264171 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.6367A>G (p.Ser2123Gly) single nucleotide variant not specified [RCV004440494] Chr11:1243247 [GRCh38]
Chr11:1264477 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.6428C>T (p.Thr2143Ile) single nucleotide variant not specified [RCV004440507] Chr11:1243308 [GRCh38]
Chr11:1264538 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.15940G>A (p.Ala5314Thr) single nucleotide variant not specified [RCV004445315] Chr11:1255432 [GRCh38]
Chr11:1276662 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.16334A>G (p.Gln5445Arg) single nucleotide variant not specified [RCV004445345] Chr11:1257594 [GRCh38]
Chr11:1278824 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.16471C>A (p.Pro5491Thr) single nucleotide variant not specified [RCV004445356] Chr11:1258119 [GRCh38]
Chr11:1279349 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.9122C>T (p.Ser3041Phe) single nucleotide variant not specified [RCV004440887] Chr11:1246002 [GRCh38]
Chr11:1267232 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.9232G>A (p.Gly3078Arg) single nucleotide variant not specified [RCV004440895] Chr11:1246112 [GRCh38]
Chr11:1267342 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.6381T>G (p.Ser2127Arg) single nucleotide variant not specified [RCV004440496] Chr11:1243261 [GRCh38]
Chr11:1264491 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.10427C>T (p.Ser3476Leu) single nucleotide variant not provided [RCV004810687]|not specified [RCV004515514] Chr11:1247307 [GRCh38]
Chr11:1268537 [GRCh37]
Chr11:11p15.5
likely benign|uncertain significance
NM_002458.3(MUC5B):c.10426T>C (p.Ser3476Pro) single nucleotide variant not specified [RCV004515510] Chr11:1247306 [GRCh38]
Chr11:1268536 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.10252G>A (p.Val3418Met) single nucleotide variant not specified [RCV004515489] Chr11:1247132 [GRCh38]
Chr11:1268362 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.10687A>C (p.Ile3563Leu) single nucleotide variant not specified [RCV004515558] Chr11:1247567 [GRCh38]
Chr11:1268797 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.11101A>G (p.Thr3701Ala) single nucleotide variant not specified [RCV004515624] Chr11:1247981 [GRCh38]
Chr11:1269211 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.11592A>T (p.Lys3864Asn) single nucleotide variant not specified [RCV004515722] Chr11:1248472 [GRCh38]
Chr11:1269702 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.12922C>T (p.Leu4308Phe) single nucleotide variant not specified [RCV004445000] Chr11:1249802 [GRCh38]
Chr11:1271032 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.13553C>A (p.Thr4518Lys) single nucleotide variant not specified [RCV004445065] Chr11:1250433 [GRCh38]
Chr11:1271663 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.13604C>T (p.Thr4535Ile) single nucleotide variant not specified [RCV004445069] Chr11:1250484 [GRCh38]
Chr11:1271714 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.13810A>T (p.Thr4604Ser) single nucleotide variant not specified [RCV004445100] Chr11:1250690 [GRCh38]
Chr11:1271920 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.7940T>G (p.Val2647Gly) single nucleotide variant not specified [RCV004440704] Chr11:1244820 [GRCh38]
Chr11:1266050 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.7976C>T (p.Pro2659Leu) single nucleotide variant not specified [RCV004440713] Chr11:1244856 [GRCh38]
Chr11:1266086 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.8356G>A (p.Glu2786Lys) single nucleotide variant not specified [RCV004440750] Chr11:1245236 [GRCh38]
Chr11:1266466 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.8507C>T (p.Thr2836Ile) single nucleotide variant not provided [RCV004546053] Chr11:1245387 [GRCh38]
Chr11:1266617 [GRCh37]
Chr11:11p15.5
benign
NM_002458.3(MUC5B):c.9559C>T (p.Arg3187Trp) single nucleotide variant not specified [RCV004442945] Chr11:1246439 [GRCh38]
Chr11:1267669 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.14148C>T (p.Pro4716=) single nucleotide variant not specified [RCV004445146] Chr11:1251028 [GRCh38]
Chr11:1272258 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.933C>A (p.His311Gln) single nucleotide variant not specified [RCV004440914] Chr11:1228722 [GRCh38]
Chr11:1249952 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.9986C>T (p.Thr3329Met) single nucleotide variant not specified [RCV004443036] Chr11:1246866 [GRCh38]
Chr11:1268096 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.15401G>A (p.Arg5134His) single nucleotide variant not specified [RCV004445267] Chr11:1254275 [GRCh38]
Chr11:1275505 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.15453G>A (p.Met5151Ile) single nucleotide variant not specified [RCV004445269] Chr11:1254327 [GRCh38]
Chr11:1275557 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.11864C>T (p.Thr3955Met) single nucleotide variant not specified [RCV004442880] Chr11:1248744 [GRCh38]
Chr11:1269974 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.9613G>A (p.Val3205Ile) single nucleotide variant not specified [RCV004442963] Chr11:1246493 [GRCh38]
Chr11:1267723 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.9751C>T (p.Arg3251Cys) single nucleotide variant not specified [RCV004442980] Chr11:1246631 [GRCh38]
Chr11:1267861 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.15545G>A (p.Gly5182Glu) single nucleotide variant not specified [RCV004445283] Chr11:1254761 [GRCh38]
Chr11:1275991 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.16156G>C (p.Glu5386Gln) single nucleotide variant not specified [RCV004445325] Chr11:1256690 [GRCh38]
Chr11:1277920 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.16207G>C (p.Ala5403Pro) single nucleotide variant not specified [RCV004445333] Chr11:1256741 [GRCh38]
Chr11:1277971 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.17141C>T (p.Thr5714Met) single nucleotide variant not specified [RCV004437894] Chr11:1261460 [GRCh38]
Chr11:1282690 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.2807G>A (p.Arg936His) single nucleotide variant not specified [RCV004438002] Chr11:1235340 [GRCh38]
Chr11:1256570 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.3956C>T (p.Pro1319Leu) single nucleotide variant not specified [RCV004438115] Chr11:1240361 [GRCh38]
Chr11:1261591 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.5219C>A (p.Pro1740Gln) single nucleotide variant not specified [RCV004438243] Chr11:1242099 [GRCh38]
Chr11:1263329 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.12323C>T (p.Ser4108Leu) single nucleotide variant not specified [RCV004444916] Chr11:1249203 [GRCh38]
Chr11:1270433 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.12710C>T (p.Thr4237Met) single nucleotide variant not specified [RCV004444955] Chr11:1249590 [GRCh38]
Chr11:1270820 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.10603G>A (p.Gly3535Ser) single nucleotide variant not specified [RCV004515533] Chr11:1247483 [GRCh38]
Chr11:1268713 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.10670G>A (p.Ser3557Asn) single nucleotide variant not specified [RCV004515556] Chr11:1247550 [GRCh38]
Chr11:1268780 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.11459C>T (p.Ser3820Phe) single nucleotide variant not specified [RCV004515681] Chr11:1248339 [GRCh38]
Chr11:1269569 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.14270C>T (p.Thr4757Ile) single nucleotide variant not specified [RCV004445153] Chr11:1251150 [GRCh38]
Chr11:1272380 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.8072C>T (p.Thr2691Ile) single nucleotide variant not provided [RCV003886131] Chr11:1244952 [GRCh38]
Chr11:1266182 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.7724A>G (p.His2575Arg) single nucleotide variant not specified [RCV004440666] Chr11:1244604 [GRCh38]
Chr11:1265834 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.5864C>T (p.Pro1955Leu) single nucleotide variant not specified [RCV004440426] Chr11:1242744 [GRCh38]
Chr11:1263974 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.10157C>T (p.Thr3386Ile) single nucleotide variant not specified [RCV004515465] Chr11:1247037 [GRCh38]
Chr11:1268267 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.7945C>T (p.Pro2649Ser) single nucleotide variant not specified [RCV004440710] Chr11:1244825 [GRCh38]
Chr11:1266055 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.2266G>A (p.Ala756Thr) single nucleotide variant not specified [RCV004437975] Chr11:1233213 [GRCh38]
Chr11:1254443 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.4835C>T (p.Pro1612Leu) single nucleotide variant not specified [RCV004438189] Chr11:1241715 [GRCh38]
Chr11:1262945 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.5491C>T (p.Arg1831Trp) single nucleotide variant not specified [RCV004438277] Chr11:1242371 [GRCh38]
Chr11:1263601 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.3613C>G (p.Pro1205Ala) single nucleotide variant not specified [RCV004438087] Chr11:1239828 [GRCh38]
Chr11:1261058 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.8290C>A (p.Pro2764Thr) single nucleotide variant not provided [RCV003886202] Chr11:1245170 [GRCh38]
Chr11:1266400 [GRCh37]
Chr11:11p15.5
benign|likely benign
NM_002458.3(MUC5B):c.1520C>T (p.Thr507Met) single nucleotide variant MUC5B-related disorder [RCV003941671] Chr11:1230985 [GRCh38]
Chr11:1252215 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.12483C>T (p.Ala4161=) single nucleotide variant not provided [RCV003886275] Chr11:1249363 [GRCh38]
Chr11:1270593 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.17126G>A (p.Arg5709Gln) single nucleotide variant not specified [RCV004437885] Chr11:1261445 [GRCh38]
Chr11:1282675 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.10891G>A (p.Gly3631Ser) single nucleotide variant not provided [RCV003884901] Chr11:1247771 [GRCh38]
Chr11:1269001 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.8480C>T (p.Thr2827Met) single nucleotide variant not specified [RCV004440780] Chr11:1245360 [GRCh38]
Chr11:1266590 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.8680G>A (p.Asp2894Asn) single nucleotide variant not specified [RCV004440807] Chr11:1245560 [GRCh38]
Chr11:1266790 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.8710G>A (p.Ala2904Thr) single nucleotide variant not specified [RCV004440815] Chr11:1245590 [GRCh38]
Chr11:1266820 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.8806T>C (p.Cys2936Arg) single nucleotide variant not specified [RCV004440832] Chr11:1245686 [GRCh38]
Chr11:1266916 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.1739T>A (p.Val580Glu) single nucleotide variant not specified [RCV004437907] Chr11:1232056 [GRCh38]
Chr11:1253286 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.1993G>T (p.Ala665Ser) single nucleotide variant not specified [RCV004437932] Chr11:1232698 [GRCh38]
Chr11:1253928 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.2209G>A (p.Gly737Ser) single nucleotide variant not specified [RCV004437963] Chr11:1233156 [GRCh38]
Chr11:1254386 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.3907C>T (p.Pro1303Ser) single nucleotide variant not specified [RCV004438102] Chr11:1240312 [GRCh38]
Chr11:1261542 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.3965C>T (p.Thr1322Met) single nucleotide variant not specified [RCV004438118] Chr11:1240370 [GRCh38]
Chr11:1261600 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.4424G>A (p.Arg1475Gln) single nucleotide variant not specified [RCV004438160] Chr11:1241304 [GRCh38]
Chr11:1262534 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.4475C>T (p.Thr1492Met) single nucleotide variant not specified [RCV004438176] Chr11:1241355 [GRCh38]
Chr11:1262585 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.5348G>A (p.Arg1783His) single nucleotide variant not specified [RCV004438258] Chr11:1242228 [GRCh38]
Chr11:1263458 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.5476A>G (p.Lys1826Glu) single nucleotide variant not specified [RCV004438267] Chr11:1242356 [GRCh38]
Chr11:1263586 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.5698A>G (p.Thr1900Ala) single nucleotide variant not specified [RCV004438300] Chr11:1242578 [GRCh38]
Chr11:1263808 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.5747C>T (p.Thr1916Met) single nucleotide variant not specified [RCV004438305] Chr11:1242627 [GRCh38]
Chr11:1263857 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.10366G>A (p.Gly3456Arg) single nucleotide variant not specified [RCV004515499] Chr11:1247246 [GRCh38]
Chr11:1268476 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.11160G>T (p.Trp3720Cys) single nucleotide variant not specified [RCV004515630] Chr11:1248040 [GRCh38]
Chr11:1269270 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.12037G>A (p.Gly4013Arg) single nucleotide variant not specified [RCV004444883] Chr11:1248917 [GRCh38]
Chr11:1270147 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.12152C>A (p.Thr4051Asn) single nucleotide variant not specified [RCV004444901] Chr11:1249032 [GRCh38]
Chr11:1270262 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.3454+7C>T single nucleotide variant not provided [RCV003885556] Chr11:1239034 [GRCh38]
Chr11:1260264 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.13291A>G (p.Thr4431Ala) single nucleotide variant not specified [RCV004445053] Chr11:1250171 [GRCh38]
Chr11:1271401 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.14591C>T (p.Thr4864Met) single nucleotide variant not specified [RCV004445193] Chr11:1251471 [GRCh38]
Chr11:1272701 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.15907C>T (p.His5303Tyr) single nucleotide variant not specified [RCV004445306] Chr11:1255399 [GRCh38]
Chr11:1276629 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.9339CAC[1] (p.Thr3116del) microsatellite Interstitial lung disease 2 [RCV003990523] Chr11:1246218..1246220 [GRCh38]
Chr11:1267448..1267450 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.8782C>T (p.Arg2928Trp) single nucleotide variant not provided [RCV003885901] Chr11:1245662 [GRCh38]
Chr11:1266892 [GRCh37]
Chr11:11p15.5
benign|likely benign
NM_002458.3(MUC5B):c.11882C>A (p.Thr3961Asn) single nucleotide variant not specified [RCV004442887] Chr11:1248762 [GRCh38]
Chr11:1269992 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.9583G>A (p.Val3195Met) single nucleotide variant not specified [RCV004442953] Chr11:1246463 [GRCh38]
Chr11:1267693 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.7289C>T (p.Pro2430Leu) single nucleotide variant not specified [RCV004440636] Chr11:1244169 [GRCh38]
Chr11:1265399 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.8126C>T (p.Thr2709Ile) single nucleotide variant not specified [RCV004440721] Chr11:1245006 [GRCh38]
Chr11:1266236 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.9821T>C (p.Val3274Ala) single nucleotide variant not specified [RCV004443002] Chr11:1246701 [GRCh38]
Chr11:1267931 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.8282C>A (p.Pro2761His) single nucleotide variant not specified [RCV004638607] Chr11:1245162 [GRCh38]
Chr11:1266392 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.15262G>A (p.Gly5088Ser) single nucleotide variant not specified [RCV004638608] Chr11:1254136 [GRCh38]
Chr11:1275366 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.7886C>G (p.Thr2629Arg) single nucleotide variant not specified [RCV004638609] Chr11:1244766 [GRCh38]
Chr11:1265996 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.9362C>A (p.Ser3121Tyr) single nucleotide variant not specified [RCV004638623] Chr11:1246242 [GRCh38]
Chr11:1267472 [GRCh37]
Chr11:11p15.5
uncertain significance
NC_000011.9:g.(?_216698)_(2906719_?)dup duplication Beckwith-Wiedemann syndrome [RCV004580105] Chr11:216698..2906719 [GRCh37]
Chr11:11p15.5-15.4
uncertain significance
NM_002458.3(MUC5B):c.10037C>T (p.Thr3346Met) single nucleotide variant not provided [RCV004598625] Chr11:1246917 [GRCh38]
Chr11:1268147 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.897_898del (p.Ala300fs) microsatellite Susceptibility to severe COVID-19 [RCV004598570] Chr11:1228683..1228684 [GRCh38]
Chr11:1249913..1249914 [GRCh37]
Chr11:11p15.5
likely pathogenic
NM_002458.3(MUC5B):c.8398G>A (p.Gly2800Ser) single nucleotide variant not specified [RCV004638606] Chr11:1245278 [GRCh38]
Chr11:1266508 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.4871C>A (p.Thr1624Asn) single nucleotide variant not specified [RCV004638618] Chr11:1241751 [GRCh38]
Chr11:1262981 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.1106C>T (p.Thr369Met) single nucleotide variant not specified [RCV004638619] Chr11:1229693 [GRCh38]
Chr11:1250923 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.15794G>A (p.Gly5265Asp) single nucleotide variant not specified [RCV004638620] Chr11:1255170 [GRCh38]
Chr11:1276400 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.17093T>C (p.Met5698Thr) single nucleotide variant not specified [RCV004638612] Chr11:1261412 [GRCh38]
Chr11:1282642 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.6787G>A (p.Glu2263Lys) single nucleotide variant not specified [RCV004638621] Chr11:1243667 [GRCh38]
Chr11:1264897 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.5777C>T (p.Pro1926Leu) single nucleotide variant not specified [RCV004646929] Chr11:1242657 [GRCh38]
Chr11:1263887 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.17033T>C (p.Ile5678Thr) single nucleotide variant not specified [RCV004646932] Chr11:1260692 [GRCh38]
Chr11:1281922 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.10634C>A (p.Pro3545His) single nucleotide variant not specified [RCV004646935] Chr11:1247514 [GRCh38]
Chr11:1268744 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.532C>T (p.Arg178Trp) single nucleotide variant not specified [RCV004646936] Chr11:1227101 [GRCh38]
Chr11:1248331 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.6692C>G (p.Ser2231Cys) single nucleotide variant not specified [RCV004646937] Chr11:1243572 [GRCh38]
Chr11:1264802 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.6398T>C (p.Leu2133Pro) single nucleotide variant not specified [RCV004646938] Chr11:1243278 [GRCh38]
Chr11:1264508 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.5938G>A (p.Val1980Ile) single nucleotide variant not specified [RCV004646942] Chr11:1242818 [GRCh38]
Chr11:1264048 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.9713C>T (p.Thr3238Ile) single nucleotide variant not specified [RCV004646943] Chr11:1246593 [GRCh38]
Chr11:1267823 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.15176C>T (p.Ser5059Leu) single nucleotide variant not specified [RCV004646944] Chr11:1252939 [GRCh38]
Chr11:1274169 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.13811C>T (p.Thr4604Ile) single nucleotide variant not specified [RCV004646945] Chr11:1250691 [GRCh38]
Chr11:1271921 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.5795C>T (p.Thr1932Ile) single nucleotide variant not specified [RCV004646946] Chr11:1242675 [GRCh38]
Chr11:1263905 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.15385G>A (p.Ala5129Thr) single nucleotide variant not specified [RCV004646947] Chr11:1254259 [GRCh38]
Chr11:1275489 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.3538C>T (p.Arg1180Trp) single nucleotide variant not specified [RCV004646949] Chr11:1239521 [GRCh38]
Chr11:1260751 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.5523C>A (p.Asp1841Glu) single nucleotide variant not specified [RCV004646950] Chr11:1242403 [GRCh38]
Chr11:1263633 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.5444G>C (p.Arg1815Thr) single nucleotide variant not specified [RCV004646955] Chr11:1242324 [GRCh38]
Chr11:1263554 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.6359C>A (p.Pro2120His) single nucleotide variant not specified [RCV004646961] Chr11:1243239 [GRCh38]
Chr11:1264469 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.14887G>A (p.Asp4963Asn) single nucleotide variant not specified [RCV004646962] Chr11:1252366 [GRCh38]
Chr11:1273596 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.7324A>G (p.Thr2442Ala) single nucleotide variant not specified [RCV004646964] Chr11:1244204 [GRCh38]
Chr11:1265434 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.9763A>G (p.Thr3255Ala) single nucleotide variant not specified [RCV004645592] Chr11:1246643 [GRCh38]
Chr11:1267873 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.14087C>T (p.Pro4696Leu) single nucleotide variant not specified [RCV004646917] Chr11:1250967 [GRCh38]
Chr11:1272197 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.5041A>G (p.Thr1681Ala) single nucleotide variant not specified [RCV004646918] Chr11:1241921 [GRCh38]
Chr11:1263151 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.10846G>A (p.Glu3616Lys) single nucleotide variant not specified [RCV004646919] Chr11:1247726 [GRCh38]
Chr11:1268956 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.6587C>A (p.Thr2196Asn) single nucleotide variant not specified [RCV004646920] Chr11:1243467 [GRCh38]
Chr11:1264697 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.7649C>T (p.Thr2550Ile) single nucleotide variant not specified [RCV004646921] Chr11:1244529 [GRCh38]
Chr11:1265759 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.7295C>T (p.Thr2432Met) single nucleotide variant not specified [RCV004646924] Chr11:1244175 [GRCh38]
Chr11:1265405 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.12479C>T (p.Ala4160Val) single nucleotide variant not specified [RCV004646925] Chr11:1249359 [GRCh38]
Chr11:1270589 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.10804C>T (p.Arg3602Cys) single nucleotide variant not specified [RCV004646926] Chr11:1247684 [GRCh38]
Chr11:1268914 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.6015G>C (p.Met2005Ile) single nucleotide variant not specified [RCV004646927] Chr11:1242895 [GRCh38]
Chr11:1264125 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.8278T>C (p.Ser2760Pro) single nucleotide variant not provided [RCV004585360] Chr11:1245158 [GRCh38]
Chr11:1266388 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.8303G>C (p.Arg2768Pro) single nucleotide variant not provided [RCV004585475] Chr11:1245183 [GRCh38]
Chr11:1266413 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.5279C>A (p.Thr1760Asn) single nucleotide variant not specified [RCV004645591] Chr11:1242159 [GRCh38]
Chr11:1263389 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.10021A>G (p.Thr3341Ala) single nucleotide variant not specified [RCV004645593] Chr11:1246901 [GRCh38]
Chr11:1268131 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.4816C>T (p.Arg1606Cys) single nucleotide variant not specified [RCV004638611] Chr11:1241696 [GRCh38]
Chr11:1262926 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.7682C>T (p.Thr2561Ile) single nucleotide variant not specified [RCV004638615] Chr11:1244562 [GRCh38]
Chr11:1265792 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.175G>T (p.Val59Phe) single nucleotide variant not specified [RCV004638616] Chr11:1226252 [GRCh38]
Chr11:1247482 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.15108C>T (p.Val5036=) single nucleotide variant not provided [RCV004598662] Chr11:1252871 [GRCh38]
Chr11:1274101 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.5846C>T (p.Thr1949Ile) single nucleotide variant not specified [RCV004638603] Chr11:1242726 [GRCh38]
Chr11:1263956 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.13358C>T (p.Pro4453Leu) single nucleotide variant not specified [RCV004638604] Chr11:1250238 [GRCh38]
Chr11:1271468 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.8243C>T (p.Pro2748Leu) single nucleotide variant not specified [RCV004638610] Chr11:1245123 [GRCh38]
Chr11:1266353 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.13508C>G (p.Thr4503Ser) single nucleotide variant not specified [RCV004638613] Chr11:1250388 [GRCh38]
Chr11:1271618 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.7550G>A (p.Gly2517Glu) single nucleotide variant not specified [RCV004638614] Chr11:1244430 [GRCh38]
Chr11:1265660 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.3779C>T (p.Thr1260Ile) single nucleotide variant not specified [RCV004638617] Chr11:1240184 [GRCh38]
Chr11:1261414 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.9458C>A (p.Thr3153Asn) single nucleotide variant not specified [RCV004646922] Chr11:1246338 [GRCh38]
Chr11:1267568 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.2639G>C (p.Arg880Thr) single nucleotide variant not specified [RCV004646923] Chr11:1235093 [GRCh38]
Chr11:1256323 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.16549C>A (p.Arg5517Ser) single nucleotide variant not specified [RCV004646934] Chr11:1258197 [GRCh38]
Chr11:1279427 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.11239A>T (p.Thr3747Ser) single nucleotide variant not specified [RCV004646939] Chr11:1248119 [GRCh38]
Chr11:1269349 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.2330C>T (p.Thr777Met) single nucleotide variant not specified [RCV004646941] Chr11:1233801 [GRCh38]
Chr11:1255031 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.979C>T (p.Arg327Trp) single nucleotide variant not specified [RCV004646965] Chr11:1229172 [GRCh38]
Chr11:1250402 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.6596G>A (p.Gly2199Glu) single nucleotide variant not specified [RCV004646966] Chr11:1243476 [GRCh38]
Chr11:1264706 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.13453G>A (p.Ala4485Thr) single nucleotide variant not specified [RCV004646967] Chr11:1250333 [GRCh38]
Chr11:1271563 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.6683C>T (p.Thr2228Ile) single nucleotide variant not specified [RCV004646968] Chr11:1243563 [GRCh38]
Chr11:1264793 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.3293C>T (p.Ser1098Phe) single nucleotide variant not specified [RCV004646969] Chr11:1237160 [GRCh38]
Chr11:1258390 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.11542G>A (p.Gly3848Ser) single nucleotide variant not specified [RCV004646930] Chr11:1248422 [GRCh38]
Chr11:1269652 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.947C>T (p.Pro316Leu) single nucleotide variant not specified [RCV004646931] Chr11:1228736 [GRCh38]
Chr11:1249966 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.2066-3C>G single nucleotide variant not specified [RCV004646951] Chr11:1233010 [GRCh38]
Chr11:1254240 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.10553C>G (p.Thr3518Ser) single nucleotide variant not specified [RCV004646952] Chr11:1247433 [GRCh38]
Chr11:1268663 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.7334C>T (p.Thr2445Met) single nucleotide variant not specified [RCV004646953] Chr11:1244214 [GRCh38]
Chr11:1265444 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.130G>A (p.Ala44Thr) single nucleotide variant not specified [RCV004646954] Chr11:1226207 [GRCh38]
Chr11:1247437 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.5455G>A (p.Gly1819Ser) single nucleotide variant not specified [RCV004646957] Chr11:1242335 [GRCh38]
Chr11:1263565 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.11174C>G (p.Pro3725Arg) single nucleotide variant not specified [RCV004646958] Chr11:1248054 [GRCh38]
Chr11:1269284 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.8776C>A (p.Pro2926Thr) single nucleotide variant not specified [RCV004646959] Chr11:1245656 [GRCh38]
Chr11:1266886 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.7918C>G (p.Pro2640Ala) single nucleotide variant not specified [RCV004646960] Chr11:1244798 [GRCh38]
Chr11:1266028 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.1186C>T (p.Pro396Ser) single nucleotide variant not specified [RCV004638622] Chr11:1229773 [GRCh38]
Chr11:1251003 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.8333C>T (p.Thr2778Ile) single nucleotide variant not provided [RCV004598588] Chr11:1245213 [GRCh38]
Chr11:1266443 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.13379C>T (p.Thr4460Met) single nucleotide variant not provided [RCV004598592] Chr11:1250259 [GRCh38]
Chr11:1271489 [GRCh37]
Chr11:11p15.5
benign
NM_002458.3(MUC5B):c.8249C>T (p.Thr2750Ile) single nucleotide variant not provided [RCV004811807] Chr11:1245129 [GRCh38]
Chr11:1266359 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.7609T>G (p.Phe2537Val) single nucleotide variant not provided [RCV004811814] Chr11:1244489 [GRCh38]
Chr11:1265719 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.13844C>T (p.Pro4615Leu) single nucleotide variant not provided [RCV004811815] Chr11:1250724 [GRCh38]
Chr11:1271954 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.5619C>T (p.Asn1873=) single nucleotide variant MUC5B-related disorder [RCV004759091] Chr11:1242499 [GRCh38]
Chr11:1263729 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.14690C>T (p.Ser4897Leu) single nucleotide variant MUC5B-related disorder [RCV004759115] Chr11:1251570 [GRCh38]
Chr11:1272800 [GRCh37]
Chr11:11p15.5
benign
NM_002458.3(MUC5B):c.3519A>G (p.Ala1173=) single nucleotide variant MUC5B-related disorder [RCV004759138] Chr11:1239502 [GRCh38]
Chr11:1260732 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.16494G>A (p.Pro5498=) single nucleotide variant not provided [RCV004810331] Chr11:1258142 [GRCh38]
Chr11:1279372 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.9345G>A (p.Thr3115=) single nucleotide variant not provided [RCV004810792] Chr11:1246225 [GRCh38]
Chr11:1267455 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.11126C>T (p.Thr3709Met) single nucleotide variant not provided [RCV004810896] Chr11:1248006 [GRCh38]
Chr11:1269236 [GRCh37]
Chr11:11p15.5
benign
NM_002458.3(MUC5B):c.7796C>T (p.Thr2599Ile) single nucleotide variant not provided [RCV004810903] Chr11:1244676 [GRCh38]
Chr11:1265906 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.7841C>T (p.Thr2614Met) single nucleotide variant not provided [RCV004810904] Chr11:1244721 [GRCh38]
Chr11:1265951 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.11746C>G (p.Pro3916Ala) single nucleotide variant not provided [RCV004810905] Chr11:1248626 [GRCh38]
Chr11:1269856 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.11750C>G (p.Thr3917Arg) single nucleotide variant not provided [RCV004810906] Chr11:1248630 [GRCh38]
Chr11:1269860 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.7882C>A (p.Arg2628Ser) single nucleotide variant not provided [RCV004810926] Chr11:1244762 [GRCh38]
Chr11:1265992 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.11309T>C (p.Phe3770Ser) single nucleotide variant not provided [RCV004810943] Chr11:1248189 [GRCh38]
Chr11:1269419 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.11332G>A (p.Ala3778Thr) single nucleotide variant not provided [RCV004810944] Chr11:1248212 [GRCh38]
Chr11:1269442 [GRCh37]
Chr11:11p15.5
benign
NM_002458.3(MUC5B):c.11515A>G (p.Thr3839Ala) single nucleotide variant not provided [RCV004810945] Chr11:1248395 [GRCh38]
Chr11:1269625 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.6226T>C (p.Trp2076Arg) single nucleotide variant not provided [RCV004810948] Chr11:1243106 [GRCh38]
Chr11:1264336 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.12911C>A (p.Thr4304Asn) single nucleotide variant not provided [RCV004810949] Chr11:1249791 [GRCh38]
Chr11:1271021 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.12914C>T (p.Ala4305Val) single nucleotide variant not provided [RCV004810950] Chr11:1249794 [GRCh38]
Chr11:1271024 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.11659C>A (p.Pro3887Thr) single nucleotide variant not provided [RCV004810975] Chr11:1248539 [GRCh38]
Chr11:1269769 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.7888C>A (p.Leu2630Ile) single nucleotide variant not provided [RCV004810977] Chr11:1244768 [GRCh38]
Chr11:1265998 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.12061C>A (p.Pro4021Thr) single nucleotide variant not provided [RCV004810978] Chr11:1248941 [GRCh38]
Chr11:1270171 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.1969C>T (p.Arg657Trp) single nucleotide variant not provided [RCV004722558] Chr11:1232674 [GRCh38]
Chr11:1253904 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.1304C>T (p.Thr435Ile) single nucleotide variant not provided [RCV004698973] Chr11:1230088 [GRCh38]
Chr11:1251318 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.6590C>G (p.Thr2197Arg) single nucleotide variant not provided [RCV004811435] Chr11:1243470 [GRCh38]
Chr11:1264700 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.10361C>G (p.Thr3454Arg) single nucleotide variant not provided [RCV004811436] Chr11:1247241 [GRCh38]
Chr11:1268471 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.3552G>A (p.Gly1184=) single nucleotide variant MUC5B-related disorder [RCV004759125] Chr11:1239535 [GRCh38]
Chr11:1260765 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.6756T>G (p.Leu2252=) single nucleotide variant not provided [RCV004811548] Chr11:1243636 [GRCh38]
Chr11:1264866 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.14886C>T (p.Thr4962=) single nucleotide variant not provided [RCV004811577] Chr11:1252365 [GRCh38]
Chr11:1273595 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.6875G>A (p.Arg2292His) single nucleotide variant not provided [RCV004811632] Chr11:1243755 [GRCh38]
Chr11:1264985 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.6077C>T (p.Thr2026Met) single nucleotide variant not provided [RCV004811639] Chr11:1242957 [GRCh38]
Chr11:1264187 [GRCh37]
Chr11:11p15.5
benign
NM_002458.3(MUC5B):c.8700C>T (p.Asn2900=) single nucleotide variant not provided [RCV004811658] Chr11:1245580 [GRCh38]
Chr11:1266810 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.670G>T (p.Ala224Ser) single nucleotide variant MUC5B-related disorder [RCV004731885] Chr11:1227677 [GRCh38]
Chr11:1248907 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.11653C>A (p.Arg3885Ser) single nucleotide variant not provided [RCV004811748] Chr11:1248533 [GRCh38]
Chr11:1269763 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.12447C>G (p.Gly4149=) single nucleotide variant not provided [RCV004811762] Chr11:1249327 [GRCh38]
Chr11:1270557 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.6656C>T (p.Ser2219Leu) single nucleotide variant not provided [RCV004811790] Chr11:1243536 [GRCh38]
Chr11:1264766 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.12198G>T (p.Leu4066=) single nucleotide variant not provided [RCV004722651] Chr11:1249078 [GRCh38]
Chr11:1270308 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.11532C>T (p.Thr3844=) single nucleotide variant not provided [RCV004811984] Chr11:1248412 [GRCh38]
Chr11:1269642 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.13868CCACACCCACAACCA[1] (p.4623TTPTT[1]) microsatellite not provided [RCV004809156] Chr11:1250740..1250754 [GRCh38]
Chr11:1271970..1271984 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.3513C>T (p.Cys1171=) single nucleotide variant not provided [RCV004809055] Chr11:1239496 [GRCh38]
Chr11:1260726 [GRCh37]
Chr11:11p15.5
likely benign
NM_002458.3(MUC5B):c.5124A>G (p.Thr1708=) single nucleotide variant MUC5B-related disorder [RCV004759126] Chr11:1242004 [GRCh38]
Chr11:1263234 [GRCh37]
Chr11:11p15.5
benign
NM_002458.3(MUC5B):c.12229G>A (p.Glu4077Lys) single nucleotide variant not specified [RCV004342764] Chr11:1249109 [GRCh38]
Chr11:1270339 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_002458.3(MUC5B):c.11003A>G (p.Tyr3668Cys) single nucleotide variant not specified [RCV004350672] Chr11:1247883 [GRCh38]
Chr11:1269113 [GRCh37]
Chr11:11p15.5
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2293
Count of miRNA genes:780
Interacting mature miRNAs:945
Transcripts:ENST00000447027, ENST00000525715, ENST00000526859, ENST00000527802, ENST00000529681, ENST00000531082
Prediction methods:Miranda, Rnahybrid
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
596950724GWAS1070243_Hmajor depressive disorder QTL GWAS1070243 (human)2e-09major depressive disorder1112268571226858Human
597102167GWAS1198241_Hanorectal malformation QTL GWAS1198241 (human)8e-17anorectal malformation1112606551260656Human
1558691SCL8_HSerum cholesterol level QTL 8 (human)1.2Lipid levelHDL cholesterol1115227071Human
597173789GWAS1269863_Hbody mass index QTL GWAS1269863 (human)2e-08body mass indexbody mass index (BMI) (CMO:0000105)1112425461242547Human
407082779GWAS731755_Hunipolar depression QTL GWAS731755 (human)2e-09unipolar depression1112268571226858Human
597075640GWAS1171714_Hmajor depressive disorder QTL GWAS1171714 (human)2e-09major depressive disorder1112268571226858Human
597037641GWAS1133715_Hdepressive symptom measurement, response to antidepressant QTL GWAS1133715 (human)0.000001depressive symptom measurement, response to antidepressant1112277301227731Human

Markers in Region
RH93723  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,283,122 - 1,283,309UniSTSGRCh37
Build 36111,239,698 - 1,239,885RGDNCBI36
Celera111,319,531 - 1,319,718RGD
Cytogenetic Map11p15.5UniSTS
HuRef111,074,681 - 1,074,868UniSTS
GeneMap99-GB4 RH Map1120.19UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1184 2383 2772 2165 4653 1576 2074 3 536 1282 376 2123 6191 5674 7 3543 1 592 1645 1434 168 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_031880 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_002458 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA577624 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC061979 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF086604 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF107890 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF253321 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH006676 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ004862 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ011582 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK303892 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK310939 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM740816 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM796192 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM817984 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA450235 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068267 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC418119 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JQ413282 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JQ413283 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JQ413284 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S80993 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U63836 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U78550 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U78551 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U95031 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X74370 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X74954 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X74955 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X74956 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y09788 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z72496 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000525715
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl111,223,066 - 1,239,541 (+)Ensembl
Ensembl Acc Id: ENST00000526859   ⟹   ENSP00000434539
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl111,257,626 - 1,262,043 (+)Ensembl
Ensembl Acc Id: ENST00000527802
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl111,259,523 - 1,260,085 (+)Ensembl
Ensembl Acc Id: ENST00000529681   ⟹   ENSP00000436812
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl111,223,066 - 1,262,172 (+)Ensembl
Ensembl Acc Id: ENST00000531082
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl111,228,520 - 1,229,763 (+)Ensembl
RefSeq Acc Id: NM_002458   ⟹   NP_002449
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38111,223,066 - 1,262,172 (+)NCBI
T2T-CHM13v2.0111,294,310 - 1,333,348 (+)NCBI
Sequence:
Ensembl Acc Id: ENSP00000434539   ⟸   ENST00000526859
Ensembl Acc Id: ENSP00000436812   ⟸   ENST00000529681
RefSeq Acc Id: NP_002449   ⟸   NM_002458
- Peptide Label: precursor
- UniProtKB: Q9UE28 (UniProtKB/Swiss-Prot),   Q9HC84 (UniProtKB/Swiss-Prot),   Q99552 (UniProtKB/Swiss-Prot),   Q14881 (UniProtKB/Swiss-Prot),   O95451 (UniProtKB/Swiss-Prot),   O95291 (UniProtKB/Swiss-Prot),   O15494 (UniProtKB/Swiss-Prot),   O14985 (UniProtKB/Swiss-Prot),   O00573 (UniProtKB/Swiss-Prot),   O00447 (UniProtKB/Swiss-Prot),   A7Y9J9 (UniProtKB/TrEMBL)
- Sequence:
Protein Domains
CTCK   TIL   VWFC   VWFD

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9HC84-F1-model_v2 AlphaFold Q9HC84 1-1400 view protein structure
AF-Q9HC84-F2-model_v2 AlphaFold Q9HC84 201-1600 view protein structure
AF-Q9HC84-F3-model_v2 AlphaFold Q9HC84 401-1800 view protein structure
AF-Q9HC84-F4-model_v2 AlphaFold Q9HC84 601-2000 view protein structure
AF-Q9HC84-F5-model_v2 AlphaFold Q9HC84 801-2200 view protein structure
AF-Q9HC84-F6-model_v2 AlphaFold Q9HC84 1001-2400 view protein structure
AF-Q9HC84-F7-model_v2 AlphaFold Q9HC84 1201-2600 view protein structure
AF-Q9HC84-F8-model_v2 AlphaFold Q9HC84 1401-2800 view protein structure
AF-Q9HC84-F9-model_v2 AlphaFold Q9HC84 1601-3000 view protein structure
AF-Q9HC84-F10-model_v2 AlphaFold Q9HC84 1801-3200 view protein structure
AF-Q9HC84-F11-model_v2 AlphaFold Q9HC84 2001-3400 view protein structure
AF-Q9HC84-F12-model_v2 AlphaFold Q9HC84 2201-3600 view protein structure
AF-Q9HC84-F13-model_v2 AlphaFold Q9HC84 2401-3800 view protein structure
AF-Q9HC84-F14-model_v2 AlphaFold Q9HC84 2601-4000 view protein structure
AF-Q9HC84-F15-model_v2 AlphaFold Q9HC84 2801-4200 view protein structure
AF-Q9HC84-F16-model_v2 AlphaFold Q9HC84 3001-4400 view protein structure
AF-Q9HC84-F17-model_v2 AlphaFold Q9HC84 3201-4600 view protein structure
AF-Q9HC84-F18-model_v2 AlphaFold Q9HC84 3401-4800 view protein structure
AF-Q9HC84-F19-model_v2 AlphaFold Q9HC84 3601-5000 view protein structure
AF-Q9HC84-F20-model_v2 AlphaFold Q9HC84 3801-5200 view protein structure
AF-Q9HC84-F21-model_v2 AlphaFold Q9HC84 4001-5400 view protein structure
AF-Q9HC84-F22-model_v2 AlphaFold Q9HC84 4201-5600 view protein structure
AF-Q9HC84-F23-model_v2 AlphaFold Q9HC84 4401-5762 view protein structure

Promoters
RGD ID:7219259
Promoter ID:EPDNEW_H15375
Type:multiple initiation site
Name:MUC5B_1
Description:mucin 5B, oligomeric mucus/gel-forming
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
GRCh38111,223,066 - 1,223,126EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:7516 AgrOrtholog
COSMIC MUC5B COSMIC
Ensembl Genes ENSG00000117983 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000526859.1 UniProtKB/TrEMBL
  ENST00000529681 ENTREZGENE
  ENST00000529681.5 UniProtKB/Swiss-Prot
Gene3D-CATH Complement Module, domain 1 UniProtKB/TrEMBL
  Laminin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000117983 GTEx
HGNC ID HGNC:7516 ENTREZGENE
Human Proteome Map MUC5B Human Proteome Map
InterPro Cys_knot_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Mucin_vWF_Thrombospondin_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ser_inhib-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TIL_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Unchr_dom_Cys-rich UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VWF_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VWF_type-D UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WxxW_domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:727897 UniProtKB/Swiss-Prot
NCBI Gene MUC5B ENTREZGENE
OMIM 600770 OMIM
PANTHER EXTRACELLULAR MATRIX GLYCOPROTEIN RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MUCIN-5AC UniProtKB/TrEMBL
  MUCIN-5B UniProtKB/Swiss-Prot
Pfam Mucin2_WxxW UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PF08742 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TIL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VWC UniProtKB/TrEMBL
  VWD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA31321 PharmGKB
PROSITE CTCK_1 UniProtKB/Swiss-Prot
  CTCK_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PROKAR_LIPOPROTEIN UniProtKB/TrEMBL
  VWFC_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VWFC_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VWFD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART SM00041 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SM00832 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VWC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VWC_out UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VWD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP FnI-like domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Serine protease inhibitors UniProtKB/TrEMBL, UniProtKB/Swiss-Prot
UniProt A7Y9J9 ENTREZGENE, UniProtKB/TrEMBL
  H0YDX8_HUMAN UniProtKB/TrEMBL
  MUC5B_HUMAN UniProtKB/Swiss-Prot
  O00447 ENTREZGENE
  O00573 ENTREZGENE
  O14985 ENTREZGENE
  O15494 ENTREZGENE
  O95291 ENTREZGENE
  O95451 ENTREZGENE
  Q14879_HUMAN UniProtKB/TrEMBL
  Q14880_HUMAN UniProtKB/TrEMBL
  Q14881 ENTREZGENE
  Q14882_HUMAN UniProtKB/TrEMBL
  Q99552 ENTREZGENE
  Q9HC84 ENTREZGENE
  Q9UE28 ENTREZGENE
UniProt Secondary O00447 UniProtKB/Swiss-Prot
  O00573 UniProtKB/Swiss-Prot
  O14985 UniProtKB/Swiss-Prot
  O15494 UniProtKB/Swiss-Prot
  O95291 UniProtKB/Swiss-Prot
  O95451 UniProtKB/Swiss-Prot
  Q14881 UniProtKB/Swiss-Prot
  Q7M4S5 UniProtKB/Swiss-Prot
  Q99552 UniProtKB/Swiss-Prot
  Q9UE28 UniProtKB/Swiss-Prot