CCDC39 (coiled-coil domain containing 39) - Rat Genome Database

Send us a Message



 Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap)  (beta) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer) Overgo Probe Designer
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease COVID-19 Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models PhenoMiner (Quantitative Phenotypes) Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes GERRC (Gene Editing Rat Resource Center) Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Poster Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Gene: CCDC39 (coiled-coil domain containing 39) Homo sapiens
Analyze
Symbol: CCDC39
Name: coiled-coil domain containing 39
RGD ID: 1605540
HGNC Page HGNC:25244
Description: Involved in several processes, including cilium assembly; determination of left/right symmetry; and regulation of cilium beat frequency. Located in axoneme. Implicated in primary ciliary dyskinesia 14.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: CFAP59; CILD14; coiled-coil domain-containing protein 39; DKFZp434A128; FAP59
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh383180,614,008 - 180,679,489 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl3180,602,858 - 180,684,942 (-)EnsemblGRCh38hg38GRCh38
GRCh373180,331,796 - 180,397,277 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 363181,814,490 - 181,879,977 (-)NCBINCBI36Build 36hg18NCBI36
Celera3178,763,919 - 178,829,392 (-)NCBICelera
Cytogenetic Map3q26.33NCBI
HuRef3177,736,230 - 177,801,706 (-)NCBIHuRef
CHM1_13180,295,002 - 180,360,497 (-)NCBICHM1_1
T2T-CHM13v2.03183,415,869 - 183,481,362 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
9+2 motile cilium  (ISO)
axoneme  (IBA,IDA,IEA)
cell projection  (IEA)
cilium  (IDA,IEA)
cytoplasm  (IEA)
cytoskeleton  (IEA)
cytosol  (IEA)
extracellular region  (IEA)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal atrial arrangement  (IAGP)
Abnormal axonemal organization of respiratory motile cilia  (IAGP)
Abnormal ciliary motility  (IAGP)
Abnormal heart morphology  (IAGP)
Abnormal inferior vena cava morphology  (IAGP)
Abnormal sperm motility  (IAGP)
Abnormal sputum  (IAGP)
Abnormality of cardiovascular system morphology  (IAGP)
Abnormality of the genitourinary system  (IAGP)
Abnormality of the skeletal system  (IAGP)
Absent inner dynein arms  (IAGP)
Airway obstruction  (IAGP)
Anomalous pulmonary venous return  (IAGP)
Asplenia  (IAGP)
Atelectasis  (IAGP)
Atrial situs ambiguous  (IAGP)
Autosomal recessive inheritance  (IAGP)
Bronchiectasis  (IAGP)
Childhood onset  (IAGP)
Chronic bronchitis  (IAGP)
Chronic otitis media  (IAGP)
Chronic rhinitis  (IAGP)
Chronic sinusitis  (IAGP)
Ciliary dyskinesia  (IAGP)
Clubbing  (IAGP)
Conductive hearing impairment  (IAGP)
Congenital onset  (IAGP)
Cough  (IAGP)
Delayed speech and language development  (IAGP)
Double outlet right ventricle  (IAGP)
Ectopic pregnancy  (IAGP)
Female infertility  (IAGP)
Hearing impairment  (IAGP)
Heterotaxy  (IAGP)
Hydrocephalus  (IAGP)
Immotile sperm  (IAGP)
Infantile onset  (IAGP)
Infertility  (IAGP)
Intestinal malrotation  (IAGP)
Juvenile onset  (IAGP)
Lithoptysis  (IAGP)
Male infertility  (IAGP)
Morphological central nervous system abnormality  (IAGP)
Nasal congestion  (IAGP)
Nasal polyposis  (IAGP)
Neonatal respiratory distress  (IAGP)
Otitis media  (IAGP)
Peribronchovascular interstitial thickening  (IAGP)
Persistent left superior vena cava  (IAGP)
Polysplenia  (IAGP)
Productive cough  (IAGP)
Pulmonary situs ambiguus  (IAGP)
Recurrent mycobacterial infections  (IAGP)
Recurrent otitis media  (IAGP)
Recurrent pneumonia  (IAGP)
Recurrent respiratory infections  (IAGP)
Recurrent sinopulmonary infections  (IAGP)
Reduced sperm motility  (IAGP)
Respiratory failure  (IAGP)
Respiratory tract infection  (IAGP)
Rhinorrhea  (IAGP)
Rod-cone dystrophy  (IAGP)
Situs inversus totalis  (IAGP)
Transposition of the great arteries  (IAGP)
Ventriculomegaly  (IAGP)
Wheezing  (IAGP)
Young adult onset  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Impaired neural differentiation and glymphatic CSF flow in the Ccdc39 rat model of neonatal hydrocephalus: genetic interaction with L1cam. Emmert AS, etal., Dis Model Mech. 2019 Nov 21;12(11). pii: 12/11/dmm040972. doi: 10.1242/dmm.040972.
2. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
5. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:11256614   PMID:11329013   PMID:12477932   PMID:20301301   PMID:20379614   PMID:21131972   PMID:21131974   PMID:21145461   PMID:21873635   PMID:22499950   PMID:22693285   PMID:23255504  
PMID:24515614   PMID:25056061   PMID:25493340   PMID:26387594   PMID:27120127   PMID:29676528   PMID:30021884   PMID:31650533   PMID:31772028   PMID:34674941   PMID:35271311   PMID:35795318  


Genomics

Comparative Map Data
CCDC39
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh383180,614,008 - 180,679,489 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl3180,602,858 - 180,684,942 (-)EnsemblGRCh38hg38GRCh38
GRCh373180,331,796 - 180,397,277 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 363181,814,490 - 181,879,977 (-)NCBINCBI36Build 36hg18NCBI36
Celera3178,763,919 - 178,829,392 (-)NCBICelera
Cytogenetic Map3q26.33NCBI
HuRef3177,736,230 - 177,801,706 (-)NCBIHuRef
CHM1_13180,295,002 - 180,360,497 (-)NCBICHM1_1
T2T-CHM13v2.03183,415,869 - 183,481,362 (-)NCBIT2T-CHM13v2.0
Ccdc39
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39333,864,906 - 33,898,473 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl333,866,511 - 33,898,459 (-)EnsemblGRCm39 Ensembl
GRCm38333,810,757 - 33,844,325 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl333,812,362 - 33,844,310 (-)EnsemblGRCm38mm10GRCm38
MGSCv37333,711,283 - 33,743,232 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36334,003,911 - 34,035,850 (-)NCBIMGSCv36mm8
Celera333,711,582 - 33,743,117 (-)NCBICelera
Cytogenetic Map3A3NCBI
Ccdc39
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.22116,665,261 - 116,703,364 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl2116,665,261 - 116,703,350 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx2123,255,155 - 123,293,114 (-)NCBIRnor_SHR
UTH_Rnor_SHRSP_BbbUtx_1.02121,367,846 - 121,405,805 (-)NCBIRnor_SHRSP
UTH_Rnor_WKY_Bbb_1.02116,006,726 - 116,044,684 (-)NCBIRnor_WKY
Rnor_6.02120,278,605 - 120,367,829 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2120,278,605 - 120,316,600 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02139,933,049 - 139,971,476 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42120,117,112 - 120,154,958 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.12120,063,147 - 120,160,273 (-)NCBI
Celera2111,715,097 - 111,753,041 (-)NCBICelera
Cytogenetic Map2q24NCBI
Ccdc39
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554209,690,295 - 9,727,835 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554209,689,076 - 9,727,806 (-)NCBIChiLan1.0ChiLan1.0
CCDC39
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan13178,478,552 - 178,546,943 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v03177,640,127 - 177,705,885 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.13185,811,581 - 185,878,362 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl3185,813,245 - 185,878,362 (-)Ensemblpanpan1.1panPan2
CCDC39
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13413,915,763 - 13,959,574 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3413,905,434 - 13,959,340 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3417,997,731 - 18,042,006 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.03413,816,636 - 13,860,663 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl3413,817,526 - 13,860,510 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.13413,861,026 - 13,905,119 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.03413,841,017 - 13,885,062 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03414,089,242 - 14,133,306 (-)NCBIUU_Cfam_GSD_1.0
Ccdc39
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405602110,557,085 - 110,610,035 (-)NCBIHiC_Itri_2
SpeTri2.0NW_0049365662,610,756 - 2,663,657 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CCDC39
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl13118,626,330 - 118,682,281 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.113118,623,787 - 118,773,205 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.213127,828,111 - 127,901,388 (-)NCBISscrofa10.2Sscrofa10.2susScr3
CCDC39
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1158,730,456 - 8,789,379 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl158,731,278 - 8,788,523 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366606317,563,089 - 17,622,222 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Ccdc39
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462473058,436,469 - 58,471,799 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462473058,436,427 - 58,471,926 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in CCDC39
412 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_181426.2(CCDC39):c.1387C>T (p.Arg463Trp) single nucleotide variant Primary ciliary dyskinesia 14 [RCV003144309]|Primary ciliary dyskinesia [RCV002395258]|not provided [RCV000523492] Chr3:180647219 [GRCh38]
Chr3:180365007 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.1555C>A (p.His519Asn) single nucleotide variant Primary ciliary dyskinesia [RCV000548969] Chr3:180644230 [GRCh38]
Chr3:180362018 [GRCh37]
Chr3:3q26.33		 likely benign
NM_181426.2(CCDC39):c.1795C>T (p.Arg599Ter) single nucleotide variant Ellis-van Creveld syndrome [RCV000754965]|Primary ciliary dyskinesia 14 [RCV001289545]|Primary ciliary dyskinesia [RCV000552448]|not provided [RCV002223222] Chr3:180642072 [GRCh38]
Chr3:180359860 [GRCh37]
Chr3:3q26.33		 pathogenic|likely pathogenic|uncertain significance
CCDC39, 1-BP DEL, 2190A deletion Ciliary dyskinesia, primary, 14 [RCV000024059] Chr3:3q26.33 pathogenic
CCDC39, 1-BP DEL, 1072A deletion Ciliary dyskinesia, primary, 14 [RCV000024060] Chr3:3q26.33 pathogenic
NM_181426.2(CCDC39):c.357+1G>C single nucleotide variant Infertility [RCV001327942]|Primary ciliary dyskinesia 14 [RCV000024061]|Primary ciliary dyskinesia [RCV000199155]|not provided [RCV001092443] Chr3:180661860 [GRCh38]
Chr3:180379648 [GRCh37]
Chr3:3q26.33		 pathogenic
CCDC39, 3-BP DEL/1-BP INS, NT2357 indel Primary ciliary dyskinesia 14 [RCV000024062] Chr3:3q26.33 pathogenic
NM_181426.2(CCDC39):c.1159del (p.Asp387fs) deletion Primary ciliary dyskinesia [RCV000629413] Chr3:180651409 [GRCh38]
Chr3:180369197 [GRCh37]
Chr3:3q26.33		 pathogenic
NM_181426.2(CCDC39):c.64GAG[1] (p.Glu23del) microsatellite Primary ciliary dyskinesia 14 [RCV002492939]|Primary ciliary dyskinesia [RCV000629425] Chr3:180679312..180679314 [GRCh38]
Chr3:180397100..180397102 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.1167+8T>C single nucleotide variant Primary ciliary dyskinesia [RCV000629615] Chr3:180651393 [GRCh38]
Chr3:180369181 [GRCh37]
Chr3:3q26.33		 likely benign
NM_181426.2(CCDC39):c.1025A>G (p.Glu342Gly) single nucleotide variant Primary ciliary dyskinesia [RCV000629284] Chr3:180652172 [GRCh38]
Chr3:180369960 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.219C>T (p.Cys73=) single nucleotide variant Primary ciliary dyskinesia [RCV002525279] Chr3:180661999 [GRCh38]
Chr3:180379787 [GRCh37]
Chr3:3q26.33		 likely benign
NM_181426.2(CCDC39):c.1665+5A>G single nucleotide variant Primary ciliary dyskinesia [RCV000542251] Chr3:180644115 [GRCh38]
Chr3:180361903 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.1311dup (p.Gln438fs) duplication Primary ciliary dyskinesia [RCV000528312] Chr3:180648215..180648216 [GRCh38]
Chr3:180366003..180366004 [GRCh37]
Chr3:3q26.33		 pathogenic
NC_000003.11:g.(?_180379629)_(180379815_?)dup duplication Primary ciliary dyskinesia [RCV000529042] Chr3:180661841..180662027 [GRCh38]
Chr3:180379629..180379815 [GRCh37]
Chr3:3q26.33		 uncertain significance
NC_000003.11:g.(?_180369169)_(180369341_?)dup duplication Primary ciliary dyskinesia [RCV000549634] Chr3:180651381..180651553 [GRCh38]
Chr3:180369169..180369341 [GRCh37]
Chr3:3q26.33		 pathogenic
NM_181426.2(CCDC39):c.2190del (p.Glu731fs) deletion Primary ciliary dyskinesia 14 [RCV000056197]|Primary ciliary dyskinesia [RCV000815017] Chr3:180619334 [GRCh38]
Chr3:180337122 [GRCh37]
Chr3:3q26.33		 pathogenic
NM_181426.2(CCDC39):c.2357_2359delinsT (p.Ser786fs) indel Primary ciliary dyskinesia 14 [RCV000056241] Chr3:180616873..180616875 [GRCh38]
Chr3:180334661..180334663 [GRCh37]
Chr3:3q26.33		 pathogenic
NM_181426.2(CCDC39):c.1072del (p.Thr358fs) deletion Primary ciliary dyskinesia 14 [RCV000056245]|Primary ciliary dyskinesia [RCV000702403] Chr3:180651496 [GRCh38]
Chr3:180369284 [GRCh37]
Chr3:3q26.33		 pathogenic
GRCh38/hg38 3q22.3-29(chr3:137126982-198110178)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051723]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051723]|See cases [RCV000051723] Chr3:137126982..198110178 [GRCh38]
Chr3:136845824..197837049 [GRCh37]
Chr3:138328514..199321446 [NCBI36]
Chr3:3q22.3-29		 pathogenic
GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3 copy number gain See cases [RCV000051725] Chr3:147521892..198096565 [GRCh38]
Chr3:147239679..197823436 [GRCh37]
Chr3:148722369..199307833 [NCBI36]
Chr3:3q24-29		 pathogenic
GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3 copy number gain See cases [RCV000051726] Chr3:157293378..198134727 [GRCh38]
Chr3:157011167..197861598 [GRCh37]
Chr3:158493861..199345995 [NCBI36]
Chr3:3q25.31-29		 pathogenic
GRCh38/hg38 3q26.32-29(chr3:178411707-198110319)x3 copy number gain See cases [RCV000051736] Chr3:178411707..198110319 [GRCh38]
Chr3:178129495..197837190 [GRCh37]
Chr3:179612189..199321587 [NCBI36]
Chr3:3q26.32-29		 pathogenic
NM_181426.2(CCDC39):c.641G>A (p.Arg214His) single nucleotide variant Primary ciliary dyskinesia [RCV001350616]|not provided [RCV000082711] Chr3:180659549 [GRCh38]
Chr3:180377337 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.2540A>G (p.Glu847Gly) single nucleotide variant Fibrous Sheath Dysplasia [RCV000128822] Chr3:180616562 [GRCh38]
Chr3:180334350 [GRCh37]
Chr3:3q26.33		 uncertain significance
GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3 copy number gain See cases [RCV000134948] Chr3:103426882..198110178 [GRCh38]
Chr3:103145726..197837049 [GRCh37]
Chr3:104628416..199321446 [NCBI36]
Chr3:3q13.11-29		 pathogenic
GRCh38/hg38 3q26.2-29(chr3:168167568-198110178)x3 copy number gain See cases [RCV000137106] Chr3:168167568..198110178 [GRCh38]
Chr3:167885356..197837049 [GRCh37]
Chr3:169368050..199321446 [NCBI36]
Chr3:3q26.2-29		 pathogenic
GRCh38/hg38 3q26.32-29(chr3:176439911-198118383)x3 copy number gain See cases [RCV000138009] Chr3:176439911..198118383 [GRCh38]
Chr3:176157699..197845254 [GRCh37]
Chr3:177640393..199329651 [NCBI36]
Chr3:3q26.32-29		 pathogenic|likely benign
GRCh38/hg38 3q26.32-29(chr3:176168525-198118383)x3 copy number gain See cases [RCV000138662] Chr3:176168525..198118383 [GRCh38]
Chr3:175886313..197845254 [GRCh37]
Chr3:177369007..199329651 [NCBI36]
Chr3:3q26.32-29		 pathogenic
GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3 copy number gain See cases [RCV000139435] Chr3:152100512..198118383 [GRCh38]
Chr3:151818301..197845254 [GRCh37]
Chr3:153300991..199329651 [NCBI36]
Chr3:3q25.1-29		 pathogenic
NM_181426.2(CCDC39):c.2534T>C (p.Ile845Thr) single nucleotide variant Primary ciliary dyskinesia 14 [RCV001145561]|Primary ciliary dyskinesia [RCV001087266]|not provided [RCV000724053]|not specified [RCV000250356] Chr3:180616568 [GRCh38]
Chr3:180334356 [GRCh37]
Chr3:3q26.33		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 3q25.31-29(chr3:156321878-198113452)x3 copy number gain See cases [RCV000140849] Chr3:156321878..198113452 [GRCh38]
Chr3:156039667..197840323 [GRCh37]
Chr3:157522361..199324720 [NCBI36]
Chr3:3q25.31-29		 pathogenic
GRCh38/hg38 3q25.31-29(chr3:156118441-198125115)x3 copy number gain See cases [RCV000142310] Chr3:156118441..198125115 [GRCh38]
Chr3:155836230..197851986 [GRCh37]
Chr3:157318924..199336383 [NCBI36]
Chr3:3q25.31-29		 pathogenic
GRCh38/hg38 3q26.1-28(chr3:167717962-188365272)x3 copy number gain See cases [RCV000142107] Chr3:167717962..188365272 [GRCh38]
Chr3:167435750..188083060 [GRCh37]
Chr3:168918444..189565754 [NCBI36]
Chr3:3q26.1-28		 likely pathogenic
GRCh38/hg38 3q26.1-29(chr3:166137209-198125115)x3 copy number gain See cases [RCV000143694] Chr3:166137209..198125115 [GRCh38]
Chr3:165854997..197851986 [GRCh37]
Chr3:167337691..199336383 [NCBI36]
Chr3:3q26.1-29		 pathogenic
NM_181426.2(CCDC39):c.2432G>A (p.Arg811His) single nucleotide variant Primary ciliary dyskinesia 14 [RCV001094808]|Primary ciliary dyskinesia [RCV000168045]|not provided [RCV001705952]|not specified [RCV000150243] Chr3:180616670 [GRCh38]
Chr3:180334458 [GRCh37]
Chr3:3q26.33		 benign|likely benign|conflicting interpretations of pathogenicity
NM_181426.2(CCDC39):c.2397G>A (p.Val799=) single nucleotide variant Primary ciliary dyskinesia 14 [RCV000601769]|Primary ciliary dyskinesia [RCV000354412]|not provided [RCV001705953]|not specified [RCV000150244] Chr3:180616835 [GRCh38]
Chr3:180334623 [GRCh37]
Chr3:3q26.33		 benign|likely benign
NM_181426.2(CCDC39):c.2301G>A (p.Leu767=) single nucleotide variant Primary ciliary dyskinesia 14 [RCV001094809]|Primary ciliary dyskinesia [RCV000259540]|not provided [RCV001705954]|not specified [RCV000150245] Chr3:180616931 [GRCh38]
Chr3:180334719 [GRCh37]
Chr3:3q26.33		 benign|likely benign
NM_181426.2(CCDC39):c.2230C>G (p.Gln744Glu) single nucleotide variant Primary ciliary dyskinesia 14 [RCV001094887]|Primary ciliary dyskinesia [RCV000227064]|not provided [RCV001705955]|not specified [RCV000150246] Chr3:180619294 [GRCh38]
Chr3:180337082 [GRCh37]
Chr3:3q26.33		 benign|likely benign|conflicting interpretations of pathogenicity
NM_181426.2(CCDC39):c.1359C>T (p.Ser453=) single nucleotide variant Primary ciliary dyskinesia 14 [RCV000604451]|Primary ciliary dyskinesia [RCV000392697]|not provided [RCV001705956]|not specified [RCV000150247] Chr3:180648168 [GRCh38]
Chr3:180365956 [GRCh37]
Chr3:3q26.33		 benign
NM_181426.2(CCDC39):c.1248A>G (p.Glu416=) single nucleotide variant Primary ciliary dyskinesia 14 [RCV001094762]|Primary ciliary dyskinesia [RCV000353694]|not provided [RCV001705957]|not specified [RCV000150248] Chr3:180648279 [GRCh38]
Chr3:180366067 [GRCh37]
Chr3:3q26.33		 benign|likely benign
NM_181426.2(CCDC39):c.545C>G (p.Thr182Ser) single nucleotide variant Primary ciliary dyskinesia 14 [RCV001150116]|Primary ciliary dyskinesia [RCV000477045]|not specified [RCV000150249] Chr3:180659741 [GRCh38]
Chr3:180377529 [GRCh37]
Chr3:3q26.33		 benign
NM_181426.2(CCDC39):c.2660dup (p.Ser888fs) duplication Primary ciliary dyskinesia [RCV000227740]|not provided [RCV003221836]|not specified [RCV000175492] Chr3:180616289..180616290 [GRCh38]
Chr3:180334077..180334078 [GRCh37]
Chr3:3q26.33		 benign|likely benign|conflicting interpretations of pathogenicity
NM_181426.2(CCDC39):c.1073C>T (p.Thr358Ile) single nucleotide variant Primary ciliary dyskinesia 14 [RCV001145787]|Primary ciliary dyskinesia [RCV001082090]|not provided [RCV000827145]|not specified [RCV000250032] Chr3:180651495 [GRCh38]
Chr3:180369283 [GRCh37]
Chr3:3q26.33		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_181426.2(CCDC39):c.526_527del (p.Leu176fs) microsatellite Primary ciliary dyskinesia 14 [RCV003152688]|Primary ciliary dyskinesia [RCV000168290] Chr3:180659759..180659760 [GRCh38]
Chr3:180377547..180377548 [GRCh37]
Chr3:3q26.33		 pathogenic
GRCh37/hg19 3q24-29(chr3:142995020-192997215)x4 copy number gain See cases [RCV000240256] Chr3:142995020..192997215 [GRCh37]
Chr3:3q24-29		 pathogenic
NM_181426.2(CCDC39):c.1035-5T>C single nucleotide variant Primary ciliary dyskinesia [RCV002515301]|not provided [RCV000724057]|not specified [RCV000246088] Chr3:180651538 [GRCh38]
Chr3:180369326 [GRCh37]
Chr3:3q26.33		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_181426.2(CCDC39):c.1644del (p.Asp548fs) deletion Primary ciliary dyskinesia [RCV000197291] Chr3:180644141 [GRCh38]
Chr3:180361929 [GRCh37]
Chr3:3q26.33		 pathogenic
NM_181426.2(CCDC39):c.1035G>C (p.Arg345Ser) single nucleotide variant Primary ciliary dyskinesia [RCV000198374] Chr3:180651533 [GRCh38]
Chr3:180369321 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.610-2A>G single nucleotide variant Primary ciliary dyskinesia 14 [RCV001781580]|Primary ciliary dyskinesia [RCV000200347] Chr3:180659582 [GRCh38]
Chr3:180377370 [GRCh37]
Chr3:3q26.33		 pathogenic
NM_181426.2(CCDC39):c.233G>A (p.Arg78His) single nucleotide variant Primary ciliary dyskinesia 14 [RCV001094929]|Primary ciliary dyskinesia [RCV000204490]|not provided [RCV001706205]|not specified [RCV000253251] Chr3:180661985 [GRCh38]
Chr3:180379773 [GRCh37]
Chr3:3q26.33		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_181426.2(CCDC39):c.2057A>G (p.Asn686Ser) single nucleotide variant Primary ciliary dyskinesia 14 [RCV000765714]|Primary ciliary dyskinesia [RCV000205312] Chr3:180619912 [GRCh38]
Chr3:180337700 [GRCh37]
Chr3:3q26.33		 conflicting interpretations of pathogenicity|uncertain significance
NM_181426.2(CCDC39):c.2548A>G (p.Thr850Ala) single nucleotide variant Primary ciliary dyskinesia 14 [RCV002485338]|Primary ciliary dyskinesia [RCV000205337] Chr3:180616554 [GRCh38]
Chr3:180334342 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.2299T>C (p.Leu767=) single nucleotide variant Primary ciliary dyskinesia 14 [RCV001094885]|Primary ciliary dyskinesia [RCV000206081]|not specified [RCV000244505] Chr3:180616933 [GRCh38]
Chr3:180334721 [GRCh37]
Chr3:3q26.33		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_181426.2(CCDC39):c.2615C>A (p.Thr872Lys) single nucleotide variant Inborn genetic diseases [RCV002525281]|Primary ciliary dyskinesia 14 [RCV001145558]|Primary ciliary dyskinesia [RCV000543187]|not provided [RCV003222013] Chr3:180616335 [GRCh38]
Chr3:180334123 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.2557C>T (p.Arg853Cys) single nucleotide variant Primary ciliary dyskinesia 14 [RCV000404918]|Primary ciliary dyskinesia [RCV001853433]|not specified [RCV000219574] Chr3:180616545 [GRCh38]
Chr3:180334333 [GRCh37]
Chr3:3q26.33		 conflicting interpretations of pathogenicity|uncertain significance
NM_181426.2(CCDC39):c.2238A>T (p.Gln746His) single nucleotide variant Primary ciliary dyskinesia [RCV001066767]|not specified [RCV000218044] Chr3:180619286 [GRCh38]
Chr3:180337074 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.2278A>G (p.Thr760Ala) single nucleotide variant Primary ciliary dyskinesia 14 [RCV001094886]|Primary ciliary dyskinesia [RCV000355764]|not provided [RCV003114374]|not specified [RCV000220473] Chr3:180616954 [GRCh38]
Chr3:180334742 [GRCh37]
Chr3:3q26.33		 benign|likely benign|conflicting interpretations of pathogenicity
NM_181426.2(CCDC39):c.472C>G (p.Leu158Val) single nucleotide variant Primary ciliary dyskinesia 14 [RCV001094928]|Primary ciliary dyskinesia [RCV000285099]|not provided [RCV001706210]|not specified [RCV000222825] Chr3:180660614 [GRCh38]
Chr3:180378402 [GRCh37]
Chr3:3q26.33		 benign|likely benign|conflicting interpretations of pathogenicity
NM_181426.2(CCDC39):c.1874G>T (p.Ser625Ile) single nucleotide variant Primary ciliary dyskinesia [RCV000233515]|not specified [RCV000214679] Chr3:180641993 [GRCh38]
Chr3:180359781 [GRCh37]
Chr3:3q26.33		 pathogenic|likely pathogenic|uncertain significance
NM_181426.2(CCDC39):c.1433A>G (p.Gln478Arg) single nucleotide variant Primary ciliary dyskinesia 14 [RCV001143882]|Primary ciliary dyskinesia [RCV001084837]|not provided [RCV000514742]|not specified [RCV000216828] Chr3:180647173 [GRCh38]
Chr3:180364961 [GRCh37]
Chr3:3q26.33		 benign|likely benign|conflicting interpretations of pathogenicity
NM_181426.2(CCDC39):c.1865A>G (p.Glu622Gly) single nucleotide variant Primary ciliary dyskinesia 14 [RCV001094925]|Primary ciliary dyskinesia [RCV000229530] Chr3:180642002 [GRCh38]
Chr3:180359790 [GRCh37]
Chr3:3q26.33		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_181426.2(CCDC39):c.232C>T (p.Arg78Cys) single nucleotide variant Primary ciliary dyskinesia [RCV000229916] Chr3:180661986 [GRCh38]
Chr3:180379774 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.163_164del (p.Met55fs) deletion Primary ciliary dyskinesia [RCV000231675] Chr3:180663913..180663914 [GRCh38]
Chr3:180381701..180381702 [GRCh37]
Chr3:3q26.33		 pathogenic
NM_181426.2(CCDC39):c.1363-3del deletion Primary ciliary dyskinesia 14 [RCV001836760]|Primary ciliary dyskinesia [RCV001079589]|not provided [RCV000767053]|not specified [RCV000481619] Chr3:180647246 [GRCh38]
Chr3:180365034 [GRCh37]
Chr3:3q26.33		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_181426.2(CCDC39):c.2669+6C>T single nucleotide variant Primary ciliary dyskinesia 14 [RCV001145557]|Primary ciliary dyskinesia [RCV000230299]|not specified [RCV000250880] Chr3:180616275 [GRCh38]
Chr3:180334063 [GRCh37]
Chr3:3q26.33		 benign
NM_181426.2(CCDC39):c.1073_1076del (p.Thr358fs) microsatellite Primary ciliary dyskinesia [RCV000232422] Chr3:180651492..180651495 [GRCh38]
Chr3:180369280..180369283 [GRCh37]
Chr3:3q26.33		 pathogenic
NM_181426.2(CCDC39):c.83A>C (p.Glu28Ala) single nucleotide variant Primary ciliary dyskinesia 14 [RCV002470826]|Primary ciliary dyskinesia [RCV000230948] Chr3:180679298 [GRCh38]
Chr3:180397086 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.830_831del (p.Thr277fs) microsatellite Primary ciliary dyskinesia 14 [RCV000779402]|Primary ciliary dyskinesia [RCV000226980]|not provided [RCV001008126] Chr3:180654861..180654862 [GRCh38]
Chr3:180372649..180372650 [GRCh37]
Chr3:3q26.33		 pathogenic|likely pathogenic
NM_181426.2(CCDC39):c.2407-9T>C single nucleotide variant Primary ciliary dyskinesia [RCV001474520] Chr3:180616704 [GRCh38]
Chr3:180334492 [GRCh37]
Chr3:3q26.33		 likely benign
NM_181426.2(CCDC39):c.308G>C (p.Arg103Pro) single nucleotide variant Primary ciliary dyskinesia [RCV000234286] Chr3:180661910 [GRCh38]
Chr3:180379698 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.1781C>T (p.Thr594Ile) single nucleotide variant Primary ciliary dyskinesia 14 [RCV000677328]|Primary ciliary dyskinesia [RCV001086160]|not provided [RCV000767051]|not specified [RCV000478638] Chr3:180642086 [GRCh38]
Chr3:180359874 [GRCh37]
Chr3:3q26.33		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_181426.2(CCDC39):c.*753G>A single nucleotide variant Primary ciliary dyskinesia [RCV000278659] Chr3:180614168 [GRCh38]
Chr3:180331956 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.210+4C>T single nucleotide variant Primary ciliary dyskinesia 14 [RCV001094765]|Primary ciliary dyskinesia [RCV000281391] Chr3:180663863 [GRCh38]
Chr3:180381651 [GRCh37]
Chr3:3q26.33		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_181426.2(CCDC39):c.689C>T (p.Thr230Ile) single nucleotide variant Primary ciliary dyskinesia [RCV000525221] Chr3:180659501 [GRCh38]
Chr3:180377289 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.1363-13del deletion Primary ciliary dyskinesia 14 [RCV002488744]|Primary ciliary dyskinesia [RCV000283066] Chr3:180647256 [GRCh38]
Chr3:180365044 [GRCh37]
Chr3:3q26.33		 benign|likely benign
NM_181426.2(CCDC39):c.25C>T (p.Leu9=) single nucleotide variant Primary ciliary dyskinesia [RCV000629521]|not specified [RCV000253514] Chr3:180679356 [GRCh38]
Chr3:180397144 [GRCh37]
Chr3:3q26.33		 likely benign
NM_181426.2(CCDC39):c.930+12C>G single nucleotide variant Primary ciliary dyskinesia 14 [RCV000334128]|Primary ciliary dyskinesia [RCV002058462]|not provided [RCV001530913]|not specified [RCV000251556] Chr3:180654750 [GRCh38]
Chr3:180372538 [GRCh37]
Chr3:3q26.33		 benign|likely benign
NM_181426.2(CCDC39):c.900T>A (p.His300Gln) single nucleotide variant Primary ciliary dyskinesia 14 [RCV001094894]|Primary ciliary dyskinesia [RCV000370071]|not specified [RCV000246808] Chr3:180654792 [GRCh38]
Chr3:180372580 [GRCh37]
Chr3:3q26.33		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_181426.2(CCDC39):c.1034+7A>T single nucleotide variant not specified [RCV000254278] Chr3:180652156 [GRCh38]
Chr3:180369944 [GRCh37]
Chr3:3q26.33		 likely benign
NM_181426.2(CCDC39):c.1528-43A>G single nucleotide variant Primary ciliary dyskinesia 14 [RCV002227112]|Primary ciliary dyskinesia [RCV001510184]|not provided [RCV001689949]|not specified [RCV000242183] Chr3:180644300 [GRCh38]
Chr3:180362088 [GRCh37]
Chr3:3q26.33		 benign
NM_181426.2(CCDC39):c.1742A>G (p.Glu581Gly) single nucleotide variant not specified [RCV000246976] Chr3:180642125 [GRCh38]
Chr3:180359913 [GRCh37]
Chr3:3q26.33		 likely benign
NM_181426.2(CCDC39):c.1008G>A (p.Lys336=) single nucleotide variant Primary ciliary dyskinesia 14 [RCV001094816]|Primary ciliary dyskinesia [RCV000274071]|not specified [RCV000249484] Chr3:180652189 [GRCh38]
Chr3:180369977 [GRCh37]
Chr3:3q26.33		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_181426.2(CCDC39):c.880A>G (p.Arg294Gly) single nucleotide variant Primary ciliary dyskinesia 14 [RCV001094895]|Primary ciliary dyskinesia [RCV000270726]|not provided [RCV002259338] Chr3:180654812 [GRCh38]
Chr3:180372600 [GRCh37]
Chr3:3q26.33		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_181426.2(CCDC39):c.357+8T>C single nucleotide variant Primary ciliary dyskinesia [RCV002058461]|not specified [RCV000247394] Chr3:180661853 [GRCh38]
Chr3:180379641 [GRCh37]
Chr3:3q26.33		 likely benign
NM_181426.2(CCDC39):c.2159-16A>C single nucleotide variant Primary ciliary dyskinesia 14 [RCV002494779]|Primary ciliary dyskinesia [RCV002058460]|not specified [RCV000252235] Chr3:180619381 [GRCh38]
Chr3:180337169 [GRCh37]
Chr3:3q26.33		 benign|likely benign
NM_181426.2(CCDC39):c.2823A>G (p.Lys941=) single nucleotide variant Primary ciliary dyskinesia 14 [RCV001149887]|Primary ciliary dyskinesia [RCV002518665]|not specified [RCV000242620] Chr3:180614924 [GRCh38]
Chr3:180332712 [GRCh37]
Chr3:3q26.33		 likely benign|uncertain significance
NM_181426.2(CCDC39):c.1896A>G (p.Leu632=) single nucleotide variant Primary ciliary dyskinesia 14 [RCV001094924]|Primary ciliary dyskinesia [RCV000294522]|not specified [RCV000247466] Chr3:180631571 [GRCh38]
Chr3:180349359 [GRCh37]
Chr3:3q26.33		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_181426.2(CCDC39):c.1875-20G>A single nucleotide variant Primary ciliary dyskinesia [RCV002058459]|not specified [RCV000242693] Chr3:180631612 [GRCh38]
Chr3:180349400 [GRCh37]
Chr3:3q26.33		 benign
NM_181426.2(CCDC39):c.1861C>T (p.Arg621Trp) single nucleotide variant Primary ciliary dyskinesia [RCV002411129]|not specified [RCV000250130] Chr3:180642006 [GRCh38]
Chr3:180359794 [GRCh37]
Chr3:3q26.33		 likely benign
NM_181426.2(CCDC39):c.853G>A (p.Val285Met) single nucleotide variant not specified [RCV000242850] Chr3:180654839 [GRCh38]
Chr3:180372627 [GRCh37]
Chr3:3q26.33		 likely benign
NM_181426.2(CCDC39):c.818T>C (p.Ile273Thr) single nucleotide variant Primary ciliary dyskinesia [RCV001392162]|not specified [RCV000252695] Chr3:180654874 [GRCh38]
Chr3:180372662 [GRCh37]
Chr3:3q26.33		 likely benign
NM_181426.2(CCDC39):c.2280A>G (p.Thr760=) single nucleotide variant not specified [RCV000252719] Chr3:180616952 [GRCh38]
Chr3:180334740 [GRCh37]
Chr3:3q26.33		 likely benign
NM_181426.2(CCDC39):c.604G>A (p.Ala202Thr) single nucleotide variant Primary ciliary dyskinesia 14 [RCV001094897]|Primary ciliary dyskinesia [RCV000377130]|not provided [RCV001556304]|not specified [RCV000247940] Chr3:180659682 [GRCh38]
Chr3:180377470 [GRCh37]
Chr3:3q26.33		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_181426.2(CCDC39):c.2408G>A (p.Cys803Tyr) single nucleotide variant Primary ciliary dyskinesia 14 [RCV001145678]|Primary ciliary dyskinesia [RCV000862363]|not specified [RCV000252924] Chr3:180616694 [GRCh38]
Chr3:180334482 [GRCh37]
Chr3:3q26.33		 benign|likely benign
NM_181426.2(CCDC39):c.993T>C (p.Asn331=) single nucleotide variant Primary ciliary dyskinesia [RCV000860607]|not specified [RCV000248131] Chr3:180652204 [GRCh38]
Chr3:180369992 [GRCh37]
Chr3:3q26.33		 likely benign
NM_181426.2(CCDC39):c.930+17_930+18del deletion not specified [RCV000243375] Chr3:180654744..180654745 [GRCh38]
Chr3:180372532..180372533 [GRCh37]
Chr3:3q26.33		 likely benign
NM_181426.2(CCDC39):c.2367G>A (p.Thr789=) single nucleotide variant Primary ciliary dyskinesia [RCV002519946]|not specified [RCV000243420] Chr3:180616865 [GRCh38]
Chr3:180334653 [GRCh37]
Chr3:3q26.33		 likely benign
NM_181426.2(CCDC39):c.1359C>A (p.Ser453Arg) single nucleotide variant Primary ciliary dyskinesia 14 [RCV000298866] Chr3:180648168 [GRCh38]
Chr3:180365956 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.*545C>A single nucleotide variant Primary ciliary dyskinesia 14 [RCV000314157] Chr3:180614376 [GRCh38]
Chr3:180332164 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.*791C>T single nucleotide variant Primary ciliary dyskinesia 14 [RCV000373331] Chr3:180614130 [GRCh38]
Chr3:180331918 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.1102A>G (p.Met368Val) single nucleotide variant Primary ciliary dyskinesia 14 [RCV001094815]|Primary ciliary dyskinesia [RCV000299828] Chr3:180651466 [GRCh38]
Chr3:180369254 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.396G>A (p.Leu132=) single nucleotide variant Primary ciliary dyskinesia 14 [RCV000335489]|Primary ciliary dyskinesia [RCV002057870] Chr3:180660690 [GRCh38]
Chr3:180378478 [GRCh37]
Chr3:3q26.33		 likely benign|uncertain significance
NM_181426.2(CCDC39):c.*373G>A single nucleotide variant Primary ciliary dyskinesia 14 [RCV000337533] Chr3:180614548 [GRCh38]
Chr3:180332336 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.1833G>A (p.Ala611=) single nucleotide variant Primary ciliary dyskinesia 14 [RCV000380806]|Primary ciliary dyskinesia [RCV003114503] Chr3:180642034 [GRCh38]
Chr3:180359822 [GRCh37]
Chr3:3q26.33		 likely benign|uncertain significance
NM_181426.2(CCDC39):c.*841C>T single nucleotide variant Primary ciliary dyskinesia 14 [RCV000287122] Chr3:180614080 [GRCh38]
Chr3:180331868 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.*660A>G single nucleotide variant Primary ciliary dyskinesia 14 [RCV000338367] Chr3:180614261 [GRCh38]
Chr3:180332049 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.68A>C (p.Glu23Ala) single nucleotide variant Primary ciliary dyskinesia 14 [RCV000338754]|Primary ciliary dyskinesia [RCV001212772] Chr3:180679313 [GRCh38]
Chr3:180397101 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.2626C>T (p.Arg876Cys) single nucleotide variant Primary ciliary dyskinesia 14 [RCV001094801]|Primary ciliary dyskinesia [RCV000359346] Chr3:180616324 [GRCh38]
Chr3:180334112 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.1198G>T (p.Gly400Cys) single nucleotide variant Primary ciliary dyskinesia 14 [RCV001094814]|Primary ciliary dyskinesia [RCV000404264]|not specified [RCV000601626] Chr3:180648329 [GRCh38]
Chr3:180366117 [GRCh37]
Chr3:3q26.33		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_181426.2(CCDC39):c.42G>A (p.Gly14=) single nucleotide variant Primary ciliary dyskinesia 14 [RCV000407605]|Primary ciliary dyskinesia [RCV002520109] Chr3:180679339 [GRCh38]
Chr3:180397127 [GRCh37]
Chr3:3q26.33		 likely benign|uncertain significance
NM_181426.2(CCDC39):c.*643C>T single nucleotide variant Primary ciliary dyskinesia 14 [RCV000407767] Chr3:180614278 [GRCh38]
Chr3:180332066 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.1818T>C (p.His606=) single nucleotide variant Primary ciliary dyskinesia 14 [RCV001094926]|Primary ciliary dyskinesia [RCV000291362] Chr3:180642049 [GRCh38]
Chr3:180359837 [GRCh37]
Chr3:3q26.33		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_181426.2(CCDC39):c.640C>T (p.Arg214Cys) single nucleotide variant Primary ciliary dyskinesia 14 [RCV000322534]|Primary ciliary dyskinesia [RCV002523253] Chr3:180659550 [GRCh38]
Chr3:180377338 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.1362+13T>C single nucleotide variant Primary ciliary dyskinesia 14 [RCV000343218]|Primary ciliary dyskinesia [RCV002057868] Chr3:180648152 [GRCh38]
Chr3:180365940 [GRCh37]
Chr3:3q26.33		 likely benign|uncertain significance
NM_181426.2(CCDC39):c.821G>A (p.Gly274Glu) single nucleotide variant Primary ciliary dyskinesia 14 [RCV000385217]|Primary ciliary dyskinesia [RCV002429307] Chr3:180654871 [GRCh38]
Chr3:180372659 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.*325C>A single nucleotide variant Primary ciliary dyskinesia 14 [RCV000292944] Chr3:180614596 [GRCh38]
Chr3:180332384 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.*133A>T single nucleotide variant Primary ciliary dyskinesia 14 [RCV000344232]|not provided [RCV001709615] Chr3:180614788 [GRCh38]
Chr3:180332576 [GRCh37]
Chr3:3q26.33		 benign|likely benign
NM_181426.2(CCDC39):c.*325C>T single nucleotide variant Primary ciliary dyskinesia 14 [RCV000387300] Chr3:180614596 [GRCh38]
Chr3:180332384 [GRCh37]
Chr3:3q26.33		 likely benign|uncertain significance
NM_181426.2(CCDC39):c.*147G>A single nucleotide variant Primary ciliary dyskinesia 14 [RCV000308242] Chr3:180614774 [GRCh38]
Chr3:180332562 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.863G>A (p.Arg288His) single nucleotide variant Primary ciliary dyskinesia 14 [RCV001094896]|Primary ciliary dyskinesia [RCV000325833] Chr3:180654829 [GRCh38]
Chr3:180372617 [GRCh37]
Chr3:3q26.33		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_181426.2(CCDC39):c.1960G>A (p.Gly654Arg) single nucleotide variant Primary ciliary dyskinesia 14 [RCV001094923]|Primary ciliary dyskinesia [RCV000388844]|not provided [RCV001573559] Chr3:180631507 [GRCh38]
Chr3:180349295 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.1728C>T (p.His576=) single nucleotide variant Primary ciliary dyskinesia 14 [RCV001094761]|Primary ciliary dyskinesia [RCV000346262] Chr3:180642139 [GRCh38]
Chr3:180359927 [GRCh37]
Chr3:3q26.33		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_181426.2(CCDC39):c.1034+11A>G single nucleotide variant Primary ciliary dyskinesia 14 [RCV000368584]|Primary ciliary dyskinesia [RCV002057869] Chr3:180652152 [GRCh38]
Chr3:180369940 [GRCh37]
Chr3:3q26.33		 likely benign|uncertain significance
NM_181426.1(CCDC39):c.-111C>T single nucleotide variant Primary ciliary dyskinesia [RCV000390807] Chr3:180679491 [GRCh38]
Chr3:180397279 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.*546A>C single nucleotide variant Primary ciliary dyskinesia 14 [RCV000349256] Chr3:180614375 [GRCh38]
Chr3:180332163 [GRCh37]
Chr3:3q26.33		 benign|likely benign
NM_181426.2(CCDC39):c.2079C>T (p.Tyr693=) single nucleotide variant Primary ciliary dyskinesia 14 [RCV001094888]|Primary ciliary dyskinesia [RCV000330104] Chr3:180619890 [GRCh38]
Chr3:180337678 [GRCh37]
Chr3:3q26.33		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_181426.2(CCDC39):c.*499A>C single nucleotide variant Primary ciliary dyskinesia 14 [RCV000371579] Chr3:180614422 [GRCh38]
Chr3:180332210 [GRCh37]
Chr3:3q26.33		 benign|likely benign
NM_181426.2(CCDC39):c.*575T>C single nucleotide variant Primary ciliary dyskinesia 14 [RCV000312769] Chr3:180614346 [GRCh38]
Chr3:180332134 [GRCh37]
Chr3:3q26.33		 benign|uncertain significance
NM_181426.2(CCDC39):c.*531_*532dup duplication Primary ciliary dyskinesia [RCV000269767] Chr3:180614388..180614389 [GRCh38]
Chr3:180332176..180332177 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.*478G>A single nucleotide variant Primary ciliary dyskinesia 14 [RCV000282555] Chr3:180614443 [GRCh38]
Chr3:180332231 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.1363-23dup duplication Primary ciliary dyskinesia [RCV000392687]|not provided [RCV001691985]|not specified [RCV000454603] Chr3:180647255..180647256 [GRCh38]
Chr3:180365043..180365044 [GRCh37]
Chr3:3q26.33		 benign|likely benign
NM_181426.2(CCDC39):c.*532dup duplication Primary ciliary dyskinesia [RCV000266254] Chr3:180614388..180614389 [GRCh38]
Chr3:180332176..180332177 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.*529dup duplication Primary ciliary dyskinesia [RCV000266387] Chr3:180614391..180614392 [GRCh38]
Chr3:180332179..180332180 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.162T>C (p.Ser54=) single nucleotide variant Primary ciliary dyskinesia [RCV000527226] Chr3:180663915 [GRCh38]
Chr3:180381703 [GRCh37]
Chr3:3q26.33		 likely benign
NM_181426.2(CCDC39):c.*539C>A single nucleotide variant Primary ciliary dyskinesia 14 [RCV000364125] Chr3:180614382 [GRCh38]
Chr3:180332170 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.*545dup duplication Primary ciliary dyskinesia [RCV000401916] Chr3:180614375..180614376 [GRCh38]
Chr3:180332163..180332164 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.2800G>A (p.Val934Ile) single nucleotide variant Primary ciliary dyskinesia 14 [RCV000405697] Chr3:180614947 [GRCh38]
Chr3:180332735 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.547T>C (p.Leu183=) single nucleotide variant Primary ciliary dyskinesia 14 [RCV001150115]|Primary ciliary dyskinesia [RCV000551213] Chr3:180659739 [GRCh38]
Chr3:180377527 [GRCh37]
Chr3:3q26.33		 likely benign|uncertain significance
NM_181426.1(CCDC39):c.-110C>T single nucleotide variant Primary ciliary dyskinesia [RCV000351466] Chr3:180679490 [GRCh38]
Chr3:180397278 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.*161T>A single nucleotide variant Primary ciliary dyskinesia 14 [RCV000352540] Chr3:180614760 [GRCh38]
Chr3:180332548 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.2715A>G (p.Lys905=) single nucleotide variant Primary ciliary dyskinesia 14 [RCV000309224] Chr3:180615032 [GRCh38]
Chr3:180332820 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.*157T>C single nucleotide variant Primary ciliary dyskinesia 14 [RCV000390953] Chr3:180614764 [GRCh38]
Chr3:180332552 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.*530_*532dup duplication Primary ciliary dyskinesia [RCV000310879] Chr3:180614388..180614389 [GRCh38]
Chr3:180332176..180332177 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.*802AGT[1] microsatellite Primary ciliary dyskinesia [RCV000341983] Chr3:180614114..180614116 [GRCh38]
Chr3:180331902..180331904 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.-80T>C single nucleotide variant Primary ciliary dyskinesia 14 [RCV000312971] Chr3:180679460 [GRCh38]
Chr3:180397248 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.654T>C (p.Asn218=) single nucleotide variant Primary ciliary dyskinesia [RCV000290800] Chr3:180659536 [GRCh38]
Chr3:180377324 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.*529_*530insACC insertion Primary ciliary dyskinesia [RCV000379552] Chr3:180614391..180614392 [GRCh38]
Chr3:180332179..180332180 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.991A>T (p.Asn331Tyr) single nucleotide variant Primary ciliary dyskinesia [RCV000629398] Chr3:180652206 [GRCh38]
Chr3:180369994 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.1(CCDC39):c.1035delG deletion Primary ciliary dyskinesia [RCV000549747] Chr3:180651533 [GRCh38]
Chr3:180369321 [GRCh37]
Chr3:3q26.33		 pathogenic
NM_181426.2(CCDC39):c.2409T>C (p.Cys803=) single nucleotide variant Primary ciliary dyskinesia 14 [RCV001145677]|Primary ciliary dyskinesia [RCV000629523] Chr3:180616693 [GRCh38]
Chr3:180334481 [GRCh37]
Chr3:3q26.33		 benign|uncertain significance
NM_181426.2(CCDC39):c.272A>G (p.Gln91Arg) single nucleotide variant Primary ciliary dyskinesia [RCV000629636] Chr3:180661946 [GRCh38]
Chr3:180379734 [GRCh37]
Chr3:3q26.33		 likely benign
NM_181426.2(CCDC39):c.2497_2498del (p.Gln833fs) deletion Primary ciliary dyskinesia [RCV000529219] Chr3:180616604..180616605 [GRCh38]
Chr3:180334392..180334393 [GRCh37]
Chr3:3q26.33		 pathogenic
NM_181426.2(CCDC39):c.2387T>C (p.Leu796Ser) single nucleotide variant Inborn genetic diseases [RCV002525280]|Primary ciliary dyskinesia [RCV000555179] Chr3:180616845 [GRCh38]
Chr3:180334633 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.1034G>A (p.Arg345Lys) single nucleotide variant not provided [RCV000593613] Chr3:180652163 [GRCh38]
Chr3:180369951 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.22G>C (p.Glu8Gln) single nucleotide variant Primary ciliary dyskinesia [RCV000629261] Chr3:180679359 [GRCh38]
Chr3:180397147 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.590_591dup (p.Glu198fs) duplication Primary ciliary dyskinesia [RCV000629362] Chr3:180659694..180659695 [GRCh38]
Chr3:180377482..180377483 [GRCh37]
Chr3:3q26.33		 pathogenic
NM_181426.2(CCDC39):c.1034+2T>A single nucleotide variant Primary ciliary dyskinesia [RCV000534994]|not provided [RCV000729528] Chr3:180652161 [GRCh38]
Chr3:180369949 [GRCh37]
Chr3:3q26.33		 pathogenic|likely pathogenic
GRCh37/hg19 3q25.32-29(chr3:158980631-197766890)x3 copy number gain See cases [RCV000447464] Chr3:158980631..197766890 [GRCh37]
Chr3:3q25.32-29		 pathogenic
GRCh37/hg19 3q25.32-26.33(chr3:157128738-181637333)x3 copy number gain See cases [RCV000446611] Chr3:157128738..181637333 [GRCh37]
Chr3:3q25.32-26.33		 pathogenic
Single allele duplication Currarino triad [RCV000417195] Chr3:177772523..185716872 [GRCh38]
Chr3:3q26.32-27.2		 likely pathogenic
GRCh37/hg19 3q25.2-29(chr3:152356847-197851986)x3 copy number gain See cases [RCV000448608] Chr3:152356847..197851986 [GRCh37]
Chr3:3q25.2-29		 pathogenic
NM_181426.2(CCDC39):c.1697T>C (p.Leu566Pro) single nucleotide variant Primary ciliary dyskinesia [RCV000462718] Chr3:180642170 [GRCh38]
Chr3:180359958 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.2284G>A (p.Asp762Asn) single nucleotide variant Primary ciliary dyskinesia [RCV000467927] Chr3:180616948 [GRCh38]
Chr3:180334736 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.1744del (p.Val582fs) deletion not provided [RCV000483655] Chr3:180642123 [GRCh38]
Chr3:180359911 [GRCh37]
Chr3:3q26.33		 pathogenic
NM_181426.2(CCDC39):c.1885C>T (p.Arg629Cys) single nucleotide variant Primary ciliary dyskinesia 14 [RCV000765715]|Primary ciliary dyskinesia [RCV000472193]|not specified [RCV000607152] Chr3:180631582 [GRCh38]
Chr3:180349370 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.626C>G (p.Ala209Gly) single nucleotide variant Primary ciliary dyskinesia [RCV000461773] Chr3:180659564 [GRCh38]
Chr3:180377352 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.1459C>G (p.Leu487Val) single nucleotide variant Primary ciliary dyskinesia [RCV000472942] Chr3:180647147 [GRCh38]
Chr3:180364935 [GRCh37]
Chr3:3q26.33		 benign
NM_181426.2(CCDC39):c.1167+1261A>G single nucleotide variant Primary ciliary dyskinesia [RCV000477112] Chr3:180650140 [GRCh38]
Chr3:180367928 [GRCh37]
Chr3:3q26.33		 pathogenic
NM_181426.2(CCDC39):c.261G>T (p.Lys87Asn) single nucleotide variant Primary ciliary dyskinesia [RCV000477130] Chr3:180661957 [GRCh38]
Chr3:180379745 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.2226C>A (p.Tyr742Ter) single nucleotide variant Primary ciliary dyskinesia 14 [RCV001078460]|not provided [RCV000479757] Chr3:180619298 [GRCh38]
Chr3:180337086 [GRCh37]
Chr3:3q26.33		 pathogenic|likely pathogenic
NM_181426.2(CCDC39):c.2736G>A (p.Pro912=) single nucleotide variant Primary ciliary dyskinesia [RCV000557860] Chr3:180615011 [GRCh38]
Chr3:180332799 [GRCh37]
Chr3:3q26.33		 likely benign
NM_181426.2(CCDC39):c.451del (p.Ala151fs) deletion Primary ciliary dyskinesia [RCV000536458] Chr3:180660635 [GRCh38]
Chr3:180378423 [GRCh37]
Chr3:3q26.33		 pathogenic
NM_181426.2(CCDC39):c.1874+1G>A single nucleotide variant Primary ciliary dyskinesia [RCV000541225] Chr3:180641992 [GRCh38]
Chr3:180359780 [GRCh37]
Chr3:3q26.33		 pathogenic
NC_000003.11:g.(?_180365933)_(180381794_?)dup duplication Primary ciliary dyskinesia [RCV000534875] Chr3:180648145..180664006 [GRCh38]
Chr3:180365933..180381794 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.307C>T (p.Arg103Trp) single nucleotide variant Primary ciliary dyskinesia 14 [RCV001150119]|Primary ciliary dyskinesia [RCV000629348] Chr3:180661911 [GRCh38]
Chr3:180379699 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.1363-11A>G single nucleotide variant Primary ciliary dyskinesia [RCV000629411] Chr3:180647254 [GRCh38]
Chr3:180365042 [GRCh37]
Chr3:3q26.33		 likely pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3 copy number gain See cases [RCV000511055] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
NM_181426.2(CCDC39):c.2558G>A (p.Arg853His) single nucleotide variant Primary ciliary dyskinesia 14 [RCV001145559]|Primary ciliary dyskinesia [RCV000537244] Chr3:180616544 [GRCh38]
Chr3:180334332 [GRCh37]
Chr3:3q26.33		 conflicting interpretations of pathogenicity|uncertain significance
NM_181426.2(CCDC39):c.1935G>T (p.Leu645=) single nucleotide variant Primary ciliary dyskinesia [RCV000556203] Chr3:180631532 [GRCh38]
Chr3:180349320 [GRCh37]
Chr3:3q26.33		 likely benign
NM_181426.2(CCDC39):c.1363-7_1363-6del deletion Primary ciliary dyskinesia [RCV000538465] Chr3:180647249..180647250 [GRCh38]
Chr3:180365037..180365038 [GRCh37]
Chr3:3q26.33		 likely benign
NM_181426.2(CCDC39):c.470C>T (p.Ala157Val) single nucleotide variant Primary ciliary dyskinesia [RCV000629299] Chr3:180660616 [GRCh38]
Chr3:180378404 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.63C>A (p.Asn21Lys) single nucleotide variant Primary ciliary dyskinesia [RCV000629325] Chr3:180679318 [GRCh38]
Chr3:180397106 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.610_613del deletion Primary ciliary dyskinesia 14 [RCV002507056]|Primary ciliary dyskinesia [RCV000629353] Chr3:180659577..180659580 [GRCh38]
Chr3:180377365..180377368 [GRCh37]
Chr3:3q26.33		 pathogenic|likely pathogenic
NM_181426.2(CCDC39):c.1612C>G (p.Leu538Val) single nucleotide variant Primary ciliary dyskinesia [RCV000629450] Chr3:180644173 [GRCh38]
Chr3:180361961 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.474C>T (p.Leu158=) single nucleotide variant Primary ciliary dyskinesia [RCV000629606] Chr3:180660612 [GRCh38]
Chr3:180378400 [GRCh37]
Chr3:3q26.33		 likely benign
NC_000003.12:g.(?_180652143)_(180652286_?)del deletion Primary ciliary dyskinesia [RCV000629663] Chr3:180652143..180652286 [GRCh38]
Chr3:180369931..180370074 [GRCh37]
Chr3:3q26.33		 pathogenic
NM_181426.2(CCDC39):c.2551G>T (p.Glu851Ter) single nucleotide variant Primary ciliary dyskinesia [RCV000558884] Chr3:180616551 [GRCh38]
Chr3:180334339 [GRCh37]
Chr3:3q26.33		 pathogenic
NM_181426.2(CCDC39):c.934G>T (p.Asp312Tyr) single nucleotide variant Primary ciliary dyskinesia [RCV000629341] Chr3:180652263 [GRCh38]
Chr3:180370051 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.1242del (p.Met414fs) deletion Primary ciliary dyskinesia [RCV000629382] Chr3:180648285 [GRCh38]
Chr3:180366073 [GRCh37]
Chr3:3q26.33		 pathogenic
NM_181426.2(CCDC39):c.1620C>T (p.Ile540=) single nucleotide variant Primary ciliary dyskinesia [RCV001429968] Chr3:180644165 [GRCh38]
Chr3:180361953 [GRCh37]
Chr3:3q26.33		 likely benign
NM_181426.2(CCDC39):c.2580T>C (p.Phe860=) single nucleotide variant Primary ciliary dyskinesia [RCV000629557] Chr3:180616522 [GRCh38]
Chr3:180334310 [GRCh37]
Chr3:3q26.33		 likely benign
NM_181426.2(CCDC39):c.1528-11_1528-10del deletion Primary ciliary dyskinesia [RCV000629586] Chr3:180644267..180644268 [GRCh38]
Chr3:180362055..180362056 [GRCh37]
Chr3:3q26.33		 likely benign
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986) copy number gain See cases [RCV000512358] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
NM_181426.2(CCDC39):c.286C>T (p.Arg96Ter) single nucleotide variant Primary ciliary dyskinesia [RCV000685321] Chr3:180661932 [GRCh38]
Chr3:180379720 [GRCh37]
Chr3:3q26.33		 pathogenic
NM_181426.2(CCDC39):c.1436C>T (p.Ala479Val) single nucleotide variant Primary ciliary dyskinesia [RCV000700435] Chr3:180647170 [GRCh38]
Chr3:180364958 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.1756del (p.Glu586fs) deletion Primary ciliary dyskinesia [RCV000694872] Chr3:180642111 [GRCh38]
Chr3:180359899 [GRCh37]
Chr3:3q26.33		 pathogenic
NM_181426.2(CCDC39):c.2407-2del deletion Primary ciliary dyskinesia [RCV000706279] Chr3:180616697 [GRCh38]
Chr3:180334485 [GRCh37]
Chr3:3q26.33		 likely pathogenic
NM_181426.2(CCDC39):c.402T>A (p.Cys134Ter) single nucleotide variant Primary ciliary dyskinesia [RCV000686387] Chr3:180660684 [GRCh38]
Chr3:180378472 [GRCh37]
Chr3:3q26.33		 pathogenic
NM_181426.2(CCDC39):c.1665+1G>A single nucleotide variant Primary ciliary dyskinesia [RCV000697641] Chr3:180644119 [GRCh38]
Chr3:180361907 [GRCh37]
Chr3:3q26.33		 pathogenic
NM_181426.2(CCDC39):c.137G>A (p.Arg46His) single nucleotide variant Primary ciliary dyskinesia 14 [RCV002485639]|Primary ciliary dyskinesia [RCV000690434] Chr3:180663940 [GRCh38]
Chr3:180381728 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.945_951del (p.Lys315_Ala316insTer) deletion Primary ciliary dyskinesia [RCV000704844] Chr3:180652246..180652252 [GRCh38]
Chr3:180370034..180370040 [GRCh37]
Chr3:3q26.33		 pathogenic
NM_181426.2(CCDC39):c.1871_1872del (p.Ile624fs) deletion Heterotaxy [RCV001731885]|Primary ciliary dyskinesia [RCV000684853] Chr3:180641995..180641996 [GRCh38]
Chr3:180359783..180359784 [GRCh37]
Chr3:3q26.33		 pathogenic|likely pathogenic
NM_181426.2(CCDC39):c.350A>G (p.Asp117Gly) single nucleotide variant Primary ciliary dyskinesia [RCV000694111] Chr3:180661868 [GRCh38]
Chr3:180379656 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.570_571del (p.Lys190fs) deletion Primary ciliary dyskinesia [RCV000694358] Chr3:180659715..180659716 [GRCh38]
Chr3:180377503..180377504 [GRCh37]
Chr3:3q26.33		 pathogenic
NM_181426.2(CCDC39):c.73A>G (p.Lys25Glu) single nucleotide variant Primary ciliary dyskinesia [RCV000703779] Chr3:180679308 [GRCh38]
Chr3:180397096 [GRCh37]
Chr3:3q26.33		 uncertain significance
GRCh37/hg19 3p26.3-q29(chr3:61495-197838262)x3 copy number gain not provided [RCV000742138] Chr3:61495..197838262 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
GRCh37/hg19 3p26.3-q29(chr3:60174-197948027)x3 copy number gain not provided [RCV000742133] Chr3:60174..197948027 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
GRCh37/hg19 3q26.31-29(chr3:173281266-197838262)x3 copy number gain not provided [RCV000742968] Chr3:173281266..197838262 [GRCh37]
Chr3:3q26.31-29		 pathogenic
GRCh37/hg19 3q26.33(chr3:180321862-180379699)x3 copy number gain not provided [RCV000742991] Chr3:180321862..180379699 [GRCh37]
Chr3:3q26.33		 benign
NM_181426.2(CCDC39):c.91-255A>C single nucleotide variant not provided [RCV001609459] Chr3:180664241 [GRCh38]
Chr3:180382029 [GRCh37]
Chr3:3q26.33		 benign
NM_181426.2(CCDC39):c.357+174A>G single nucleotide variant not provided [RCV001690208] Chr3:180661687 [GRCh38]
Chr3:180379475 [GRCh37]
Chr3:3q26.33		 benign
NM_181426.2(CCDC39):c.210+197del deletion not provided [RCV001666346] Chr3:180663670 [GRCh38]
Chr3:180381458 [GRCh37]
Chr3:3q26.33		 benign
NM_181426.2(CCDC39):c.2669+193C>G single nucleotide variant not provided [RCV001708360] Chr3:180616088 [GRCh38]
Chr3:180333876 [GRCh37]
Chr3:3q26.33		 benign
NM_181426.2(CCDC39):c.1999-97T>C single nucleotide variant not provided [RCV001566401] Chr3:180620067 [GRCh38]
Chr3:180337855 [GRCh37]
Chr3:3q26.33		 likely benign
NM_181426.2(CCDC39):c.2101G>A (p.Val701Met) single nucleotide variant Primary ciliary dyskinesia 14 [RCV001148439] Chr3:180619868 [GRCh38]
Chr3:180337656 [GRCh37]
Chr3:3q26.33		 uncertain significance
NC_000003.12:g.(?_180651381)_(180651553_?)del deletion Primary ciliary dyskinesia [RCV001031510] Chr3:180369169..180369341 [GRCh37]
Chr3:3q26.33		 pathogenic
NM_181426.2(CCDC39):c.1168-2A>C single nucleotide variant Primary ciliary dyskinesia [RCV001046022] Chr3:180648361 [GRCh38]
Chr3:180366149 [GRCh37]
Chr3:3q26.33		 likely pathogenic
NM_181426.2(CCDC39):c.1176T>C (p.Asp392=) single nucleotide variant Primary ciliary dyskinesia 14 [RCV001145785]|Primary ciliary dyskinesia [RCV000864558] Chr3:180648351 [GRCh38]
Chr3:180366139 [GRCh37]
Chr3:3q26.33		 likely benign|uncertain significance
NM_181426.2(CCDC39):c.930+9A>G single nucleotide variant Primary ciliary dyskinesia [RCV000864769] Chr3:180654753 [GRCh38]
Chr3:180372541 [GRCh37]
Chr3:3q26.33		 likely benign
NM_181426.2(CCDC39):c.603C>T (p.Ser201=) single nucleotide variant Primary ciliary dyskinesia [RCV000864896] Chr3:180659683 [GRCh38]
Chr3:180377471 [GRCh37]
Chr3:3q26.33		 benign|likely benign
NM_181426.2(CCDC39):c.267T>C (p.Ile89=) single nucleotide variant Primary ciliary dyskinesia [RCV001397004] Chr3:180661951 [GRCh38]
Chr3:180379739 [GRCh37]
Chr3:3q26.33		 likely benign
NM_181426.2(CCDC39):c.1528-4G>T single nucleotide variant Primary ciliary dyskinesia [RCV000945672] Chr3:180644261 [GRCh38]
Chr3:180362049 [GRCh37]
Chr3:3q26.33		 likely benign
NM_181426.2(CCDC39):c.1611C>T (p.Asn537=) single nucleotide variant Primary ciliary dyskinesia [RCV000867359] Chr3:180644174 [GRCh38]
Chr3:180361962 [GRCh37]
Chr3:3q26.33		 likely benign
NM_181426.2(CCDC39):c.2358_2362del (p.Ser786fs) deletion Primary ciliary dyskinesia 14 [RCV001784581]|Primary ciliary dyskinesia [RCV001040498] Chr3:180616870..180616874 [GRCh38]
Chr3:180334658..180334662 [GRCh37]
Chr3:3q26.33		 pathogenic|likely pathogenic
NM_181426.2(CCDC39):c.1198G>A (p.Gly400Ser) single nucleotide variant Primary ciliary dyskinesia [RCV001062424] Chr3:180648329 [GRCh38]
Chr3:180366117 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.493C>T (p.Gln165Ter) single nucleotide variant Primary ciliary dyskinesia [RCV001049637] Chr3:180660593 [GRCh38]
Chr3:180378381 [GRCh37]
Chr3:3q26.33		 pathogenic
NM_181426.2(CCDC39):c.7A>C (p.Ser3Arg) single nucleotide variant Primary ciliary dyskinesia [RCV001071467] Chr3:180679374 [GRCh38]
Chr3:180397162 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.1035-227_1167+308del deletion Primary ciliary dyskinesia 14 [RCV001078461] Chr3:180651093..180651760 [GRCh38]
Chr3:180368881..180369548 [GRCh37]
Chr3:3q26.33		 pathogenic
NM_181426.2(CCDC39):c.2081C>T (p.Ala694Val) single nucleotide variant Primary ciliary dyskinesia [RCV001036163] Chr3:180619888 [GRCh38]
Chr3:180337676 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.2T>C (p.Met1Thr) single nucleotide variant Primary ciliary dyskinesia 14 [RCV002489541]|Primary ciliary dyskinesia [RCV001036193] Chr3:180679379 [GRCh38]
Chr3:180397167 [GRCh37]
Chr3:3q26.33		 conflicting interpretations of pathogenicity|uncertain significance
NM_181426.2(CCDC39):c.2553G>T (p.Glu851Asp) single nucleotide variant Primary ciliary dyskinesia [RCV001060619] Chr3:180616549 [GRCh38]
Chr3:180334337 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.238A>G (p.Thr80Ala) single nucleotide variant Primary ciliary dyskinesia [RCV001061015] Chr3:180661980 [GRCh38]
Chr3:180379768 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.1229A>G (p.Gln410Arg) single nucleotide variant Primary ciliary dyskinesia [RCV000808815] Chr3:180648298 [GRCh38]
Chr3:180366086 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.2358_2359del (p.Ser786fs) deletion Primary ciliary dyskinesia 14 [RCV000778691] Chr3:180616873..180616874 [GRCh38]
Chr3:180334661..180334662 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.2349T>C (p.Phe783=) single nucleotide variant Primary ciliary dyskinesia [RCV002444945]|not provided [RCV000872960] Chr3:180616883 [GRCh38]
Chr3:180334671 [GRCh37]
Chr3:3q26.33		 likely benign
NM_181426.2(CCDC39):c.885G>A (p.Thr295=) single nucleotide variant Primary ciliary dyskinesia 14 [RCV001148549]|Primary ciliary dyskinesia [RCV000861105] Chr3:180654807 [GRCh38]
Chr3:180372595 [GRCh37]
Chr3:3q26.33		 likely benign|uncertain significance
NM_181426.2(CCDC39):c.2346A>G (p.Ser782=) single nucleotide variant Primary ciliary dyskinesia [RCV001457230] Chr3:180616886 [GRCh38]
Chr3:180334674 [GRCh37]
Chr3:3q26.33		 likely benign
NM_181426.2(CCDC39):c.9C>T (p.Ser3=) single nucleotide variant Primary ciliary dyskinesia [RCV000862052] Chr3:180679372 [GRCh38]
Chr3:180397160 [GRCh37]
Chr3:3q26.33		 likely benign
NM_181426.2(CCDC39):c.2121C>T (p.Asn707=) single nucleotide variant not provided [RCV000918716] Chr3:180619848 [GRCh38]
Chr3:180337636 [GRCh37]
Chr3:3q26.33		 likely benign
NM_181426.2(CCDC39):c.610-7T>C single nucleotide variant Primary ciliary dyskinesia [RCV002064782] Chr3:180659587 [GRCh38]
Chr3:180377375 [GRCh37]
Chr3:3q26.33		 likely benign
NM_181426.2(CCDC39):c.1149G>A (p.Glu383=) single nucleotide variant not provided [RCV000869439] Chr3:180651419 [GRCh38]
Chr3:180369207 [GRCh37]
Chr3:3q26.33		 likely benign
NM_181426.2(CCDC39):c.1045del (p.Thr349fs) deletion Primary ciliary dyskinesia 14 [RCV002487814]|Primary ciliary dyskinesia [RCV000818389] Chr3:180651523 [GRCh38]
Chr3:180369311 [GRCh37]
Chr3:3q26.33		 pathogenic
NM_181426.2(CCDC39):c.352_354del (p.Lys118del) deletion Primary ciliary dyskinesia [RCV000798124] Chr3:180661864..180661866 [GRCh38]
Chr3:180379652..180379654 [GRCh37]
Chr3:3q26.33		 likely pathogenic|uncertain significance
NM_181426.2(CCDC39):c.1222G>A (p.Glu408Lys) single nucleotide variant Primary ciliary dyskinesia [RCV000791581] Chr3:180648305 [GRCh38]
Chr3:180366093 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.2800_2802dup (p.Val934_Lys935insVal) duplication Primary ciliary dyskinesia [RCV000800240] Chr3:180614944..180614945 [GRCh38]
Chr3:180332732..180332733 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.1833del (p.Ser612fs) deletion Primary ciliary dyskinesia [RCV000808214] Chr3:180642034 [GRCh38]
Chr3:180359822 [GRCh37]
Chr3:3q26.33		 pathogenic
NM_181426.2(CCDC39):c.424G>A (p.Ala142Thr) single nucleotide variant Primary ciliary dyskinesia [RCV000792581] Chr3:180660662 [GRCh38]
Chr3:180378450 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.2371G>A (p.Glu791Lys) single nucleotide variant Primary ciliary dyskinesia [RCV000802289] Chr3:180616861 [GRCh38]
Chr3:180334649 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.297T>G (p.Asp99Glu) single nucleotide variant Primary ciliary dyskinesia [RCV000800779] Chr3:180661921 [GRCh38]
Chr3:180379709 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.2485C>T (p.Arg829Cys) single nucleotide variant Primary ciliary dyskinesia 14 [RCV002487834]|Primary ciliary dyskinesia [RCV000820829] Chr3:180616617 [GRCh38]
Chr3:180334405 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.*405A>G single nucleotide variant Primary ciliary dyskinesia 14 [RCV001148324] Chr3:180614516 [GRCh38]
Chr3:180332304 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.2152C>T (p.Pro718Ser) single nucleotide variant Primary ciliary dyskinesia 14 [RCV001148438] Chr3:180619817 [GRCh38]
Chr3:180337605 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.2357G>T (p.Ser786Ile) single nucleotide variant Primary ciliary dyskinesia 14 [RCV001145680] Chr3:180616875 [GRCh38]
Chr3:180334663 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.1954C>T (p.Pro652Ser) single nucleotide variant Primary ciliary dyskinesia 14 [RCV001150006]|Primary ciliary dyskinesia [RCV000861311]|not specified [RCV000825717] Chr3:180631513 [GRCh38]
Chr3:180349301 [GRCh37]
Chr3:3q26.33		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_181426.2(CCDC39):c.1137T>C (p.Asp379=) single nucleotide variant Primary ciliary dyskinesia 14 [RCV001145786]|Primary ciliary dyskinesia [RCV002559408] Chr3:180651431 [GRCh38]
Chr3:180369219 [GRCh37]
Chr3:3q26.33		 benign|uncertain significance
NM_181426.2(CCDC39):c.425C>T (p.Ala142Val) single nucleotide variant Primary ciliary dyskinesia 14 [RCV001150118] Chr3:180660661 [GRCh38]
Chr3:180378449 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.2526A>G (p.Leu842=) single nucleotide variant Primary ciliary dyskinesia 14 [RCV001145676] Chr3:180616576 [GRCh38]
Chr3:180334364 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.2266-5T>C single nucleotide variant Primary ciliary dyskinesia 14 [RCV001148437]|Primary ciliary dyskinesia [RCV002070799] Chr3:180616971 [GRCh38]
Chr3:180334759 [GRCh37]
Chr3:3q26.33		 likely benign|uncertain significance
NM_181426.2(CCDC39):c.1848T>C (p.Tyr616=) single nucleotide variant Primary ciliary dyskinesia [RCV001408171] Chr3:180642019 [GRCh38]
Chr3:180359807 [GRCh37]
Chr3:3q26.33		 likely benign
NM_181426.2(CCDC39):c.1848del (p.Arg615_Tyr616insTer) deletion Primary ciliary dyskinesia [RCV000809478] Chr3:180642019 [GRCh38]
Chr3:180359807 [GRCh37]
Chr3:3q26.33		 pathogenic
NM_181426.2(CCDC39):c.364A>G (p.Ile122Val) single nucleotide variant Primary ciliary dyskinesia [RCV000811835] Chr3:180660722 [GRCh38]
Chr3:180378510 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.2758A>G (p.Ser920Gly) single nucleotide variant Primary ciliary dyskinesia [RCV000804359] Chr3:180614989 [GRCh38]
Chr3:180332777 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.2587-4C>T single nucleotide variant Primary ciliary dyskinesia [RCV001500618] Chr3:180616367 [GRCh38]
Chr3:180334155 [GRCh37]
Chr3:3q26.33		 likely benign
NM_181426.2(CCDC39):c.*229G>A single nucleotide variant Primary ciliary dyskinesia 14 [RCV001149885] Chr3:180614692 [GRCh38]
Chr3:180332480 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.551A>C (p.Glu184Ala) single nucleotide variant Inborn genetic diseases [RCV002557183]|Primary ciliary dyskinesia 14 [RCV001148550]|Primary ciliary dyskinesia [RCV001858973] Chr3:180659735 [GRCh38]
Chr3:180377523 [GRCh37]
Chr3:3q26.33		 uncertain significance
GRCh37/hg19 3q26.2-28(chr3:169617690-190593854)x3 copy number gain not provided [RCV001005487] Chr3:169617690..190593854 [GRCh37]
Chr3:3q26.2-28		 pathogenic
NM_181426.2(CCDC39):c.516+11A>T single nucleotide variant Primary ciliary dyskinesia 14 [RCV001150117] Chr3:180660559 [GRCh38]
Chr3:180378347 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.2407-8A>T single nucleotide variant Primary ciliary dyskinesia 14 [RCV001145679] Chr3:180616703 [GRCh38]
Chr3:180334491 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.2549C>G (p.Thr850Ser) single nucleotide variant Primary ciliary dyskinesia 14 [RCV001145560]|Primary ciliary dyskinesia [RCV002451340] Chr3:180616553 [GRCh38]
Chr3:180334341 [GRCh37]
Chr3:3q26.33		 likely benign|uncertain significance
NM_181426.2(CCDC39):c.2670-90T>C single nucleotide variant not provided [RCV001564181] Chr3:180615167 [GRCh38]
Chr3:180332955 [GRCh37]
Chr3:3q26.33		 likely benign
NM_181426.2(CCDC39):c.*842A>G single nucleotide variant Primary ciliary dyskinesia 14 [RCV001145451] Chr3:180614079 [GRCh38]
Chr3:180331867 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.157A>C (p.Asn53His) single nucleotide variant Primary ciliary dyskinesia [RCV001226628] Chr3:180663920 [GRCh38]
Chr3:180381708 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.2327dup (p.Glu777fs) duplication Primary ciliary dyskinesia [RCV001237623] Chr3:180616904..180616905 [GRCh38]
Chr3:180334692..180334693 [GRCh37]
Chr3:3q26.33		 pathogenic
NM_181426.2(CCDC39):c.2381C>G (p.Pro794Arg) single nucleotide variant Primary ciliary dyskinesia [RCV001209559] Chr3:180616851 [GRCh38]
Chr3:180334639 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.2158+6T>C single nucleotide variant Primary ciliary dyskinesia [RCV001218176] Chr3:180619805 [GRCh38]
Chr3:180337593 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.618G>C (p.Leu206Phe) single nucleotide variant Primary ciliary dyskinesia [RCV001221782] Chr3:180659572 [GRCh38]
Chr3:180377360 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.2507_2508del (p.Lys836fs) deletion Primary ciliary dyskinesia 14 [RCV001290376]|Primary ciliary dyskinesia [RCV001228608] Chr3:180616594..180616595 [GRCh38]
Chr3:180334382..180334383 [GRCh37]
Chr3:3q26.33		 pathogenic
NM_181426.2(CCDC39):c.816G>T (p.Glu272Asp) single nucleotide variant Primary ciliary dyskinesia [RCV001214900] Chr3:180654876 [GRCh38]
Chr3:180372664 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.664G>T (p.Glu222Ter) single nucleotide variant Primary ciliary dyskinesia [RCV001212775] Chr3:180659526 [GRCh38]
Chr3:180377314 [GRCh37]
Chr3:3q26.33		 pathogenic
NM_181426.2(CCDC39):c.664_666del (p.Glu222del) deletion Primary ciliary dyskinesia [RCV001212776] Chr3:180659524..180659526 [GRCh38]
Chr3:180377312..180377314 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.*313C>T single nucleotide variant Primary ciliary dyskinesia 14 [RCV001148325] Chr3:180614608 [GRCh38]
Chr3:180332396 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.1874+89C>G single nucleotide variant not provided [RCV001549663] Chr3:180641904 [GRCh38]
Chr3:180359692 [GRCh37]
Chr3:3q26.33		 likely benign
NM_181426.2(CCDC39):c.1167+936C>T single nucleotide variant not provided [RCV001683948] Chr3:180650465 [GRCh38]
Chr3:180368253 [GRCh37]
Chr3:3q26.33		 benign
NM_181426.2(CCDC39):c.1527+191C>T single nucleotide variant not provided [RCV001651659] Chr3:180646888 [GRCh38]
Chr3:180364676 [GRCh37]
Chr3:3q26.33		 benign
NM_181426.2(CCDC39):c.1665+110A>G single nucleotide variant not provided [RCV001556424] Chr3:180644010 [GRCh38]
Chr3:180361798 [GRCh37]
Chr3:3q26.33		 likely benign
NM_181426.2(CCDC39):c.1998+209_1998+217dup duplication not provided [RCV001616327] Chr3:180631251..180631252 [GRCh38]
Chr3:180349039..180349040 [GRCh37]
Chr3:3q26.33		 benign
NM_181426.2(CCDC39):c.2670-126C>T single nucleotide variant not provided [RCV001656068] Chr3:180615203 [GRCh38]
Chr3:180332991 [GRCh37]
Chr3:3q26.33		 benign
NM_181426.2(CCDC39):c.90+105C>T single nucleotide variant not provided [RCV001595175] Chr3:180679186 [GRCh38]
Chr3:180396974 [GRCh37]
Chr3:3q26.33		 benign
NM_181426.2(CCDC39):c.2565C>A (p.Ile855=) single nucleotide variant Primary ciliary dyskinesia [RCV002539990] Chr3:180616537 [GRCh38]
Chr3:180334325 [GRCh37]
Chr3:3q26.33		 likely benign
NM_181426.2(CCDC39):c.1200T>C (p.Gly400=) single nucleotide variant not provided [RCV000887552] Chr3:180648327 [GRCh38]
Chr3:180366115 [GRCh37]
Chr3:3q26.33		 likely benign
NM_181426.2(CCDC39):c.1203G>A (p.Val401=) single nucleotide variant not provided [RCV000906509] Chr3:180648324 [GRCh38]
Chr3:180366112 [GRCh37]
Chr3:3q26.33		 likely benign
NM_181426.2(CCDC39):c.1971G>T (p.Glu657Asp) single nucleotide variant Inborn genetic diseases [RCV002564086]|Primary ciliary dyskinesia [RCV001244281] Chr3:180631496 [GRCh38]
Chr3:180349284 [GRCh37]
Chr3:3q26.33		 likely benign|uncertain significance
NM_181426.2(CCDC39):c.2102T>G (p.Val701Gly) single nucleotide variant Primary ciliary dyskinesia [RCV001201891] Chr3:180619867 [GRCh38]
Chr3:180337655 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.*800G>A single nucleotide variant Primary ciliary dyskinesia 14 [RCV001145452] Chr3:180614121 [GRCh38]
Chr3:180331909 [GRCh37]
Chr3:3q26.33		 benign
NM_181426.2(CCDC39):c.904A>G (p.Thr302Ala) single nucleotide variant Primary ciliary dyskinesia [RCV001234865] Chr3:180654788 [GRCh38]
Chr3:180372576 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.2795G>A (p.Ser932Asn) single nucleotide variant Primary ciliary dyskinesia [RCV001209717]|not provided [RCV003151837] Chr3:180614952 [GRCh38]
Chr3:180332740 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.1666-9C>G single nucleotide variant Primary ciliary dyskinesia [RCV001217910] Chr3:180642210 [GRCh38]
Chr3:180359998 [GRCh37]
Chr3:3q26.33		 likely pathogenic
NM_181426.2(CCDC39):c.2265+262C>G single nucleotide variant not provided [RCV001539575] Chr3:180618997 [GRCh38]
Chr3:180336785 [GRCh37]
Chr3:3q26.33		 likely benign
NM_181426.2(CCDC39):c.139G>T (p.Glu47Ter) single nucleotide variant not provided [RCV001092444] Chr3:180663938 [GRCh38]
Chr3:180381726 [GRCh37]
Chr3:3q26.33		 pathogenic
NM_181426.2(CCDC39):c.1666-153del deletion not provided [RCV001564532] Chr3:180642354 [GRCh38]
Chr3:180360142 [GRCh37]
Chr3:3q26.33		 likely benign
NM_181426.2(CCDC39):c.930+125dup duplication not provided [RCV001577396] Chr3:180654624..180654625 [GRCh38]
Chr3:180372412..180372413 [GRCh37]
Chr3:3q26.33		 likely benign
NM_181426.2(CCDC39):c.738+195T>G single nucleotide variant not provided [RCV001649337] Chr3:180659257 [GRCh38]
Chr3:180377045 [GRCh37]
Chr3:3q26.33		 benign
NM_181426.2(CCDC39):c.1666-163dup duplication not provided [RCV001643633] Chr3:180642353..180642354 [GRCh38]
Chr3:180360141..180360142 [GRCh37]
Chr3:3q26.33		 benign
Single allele single nucleotide variant not provided [RCV001669463] Chr3:180679648 [GRCh38]
Chr3:180397436 [GRCh37]
Chr3:3q26.33		 benign
NM_181426.2(CCDC39):c.547_548del (p.Leu183fs) deletion Primary ciliary dyskinesia [RCV001243147]|not provided [RCV001008601] Chr3:180659738..180659739 [GRCh38]
Chr3:180377526..180377527 [GRCh37]
Chr3:3q26.33		 pathogenic
NM_181426.2(CCDC39):c.1034+201T>C single nucleotide variant not provided [RCV001676887] Chr3:180651962 [GRCh38]
Chr3:180369750 [GRCh37]
Chr3:3q26.33		 benign
NM_181426.2(CCDC39):c.210+182dup duplication not provided [RCV001637261] Chr3:180663669..180663670 [GRCh38]
Chr3:180381457..180381458 [GRCh37]
Chr3:3q26.33		 benign
NM_181426.2(CCDC39):c.930+95A>G single nucleotide variant not provided [RCV001596275] Chr3:180654667 [GRCh38]
Chr3:180372455 [GRCh37]
Chr3:3q26.33		 benign
NM_181426.2(CCDC39):c.211-56G>T single nucleotide variant not provided [RCV001617535] Chr3:180662063 [GRCh38]
Chr3:180379851 [GRCh37]
Chr3:3q26.33		 benign
NM_181426.2(CCDC39):c.1167+1324T>G single nucleotide variant not provided [RCV001621684] Chr3:180650077 [GRCh38]
Chr3:180367865 [GRCh37]
Chr3:3q26.33		 benign
NM_181426.2(CCDC39):c.1998+292C>T single nucleotide variant not provided [RCV001686864] Chr3:180631177 [GRCh38]
Chr3:180348965 [GRCh37]
Chr3:3q26.33		 benign
NM_181426.2(CCDC39):c.930+137del deletion not provided [RCV001711010] Chr3:180654625 [GRCh38]
Chr3:180372413 [GRCh37]
Chr3:3q26.33		 benign
NM_181426.2(CCDC39):c.2158+158del deletion not provided [RCV001698881] Chr3:180619653 [GRCh38]
Chr3:180337441 [GRCh37]
Chr3:3q26.33		 benign
NM_181426.2(CCDC39):c.1167+1302G>T single nucleotide variant not provided [RCV001638229] Chr3:180650099 [GRCh38]
Chr3:180367887 [GRCh37]
Chr3:3q26.33		 benign
NM_181426.2(CCDC39):c.930+103dup duplication not provided [RCV001674397] Chr3:180654645..180654646 [GRCh38]
Chr3:180372433..180372434 [GRCh37]
Chr3:3q26.33		 benign
NM_181426.2(CCDC39):c.738+169G>A single nucleotide variant not provided [RCV001636317] Chr3:180659283 [GRCh38]
Chr3:180377071 [GRCh37]
Chr3:3q26.33		 benign
NM_181426.2(CCDC39):c.1167+1444C>T single nucleotide variant not provided [RCV001679671] Chr3:180649957 [GRCh38]
Chr3:180367745 [GRCh37]
Chr3:3q26.33		 benign
NM_181426.2(CCDC39):c.358-84G>C single nucleotide variant not provided [RCV001679770] Chr3:180660812 [GRCh38]
Chr3:180378600 [GRCh37]
Chr3:3q26.33		 benign
NM_181426.2(CCDC39):c.931-59G>T single nucleotide variant not provided [RCV001684308] Chr3:180652325 [GRCh38]
Chr3:180370113 [GRCh37]
Chr3:3q26.33		 benign
NM_181426.2(CCDC39):c.1035-231C>T single nucleotide variant not provided [RCV001641742] Chr3:180651764 [GRCh38]
Chr3:180369552 [GRCh37]
Chr3:3q26.33		 benign
NM_181426.2(CCDC39):c.1244_1261delinsGG (p.Lys415fs) indel Primary ciliary dyskinesia 14 [RCV001078452] Chr3:180648266..180648283 [GRCh38]
Chr3:180366054..180366071 [GRCh37]
Chr3:3q26.33		 pathogenic
NM_181426.2(CCDC39):c.1035-232G>A single nucleotide variant not provided [RCV001709047] Chr3:180651765 [GRCh38]
Chr3:180369553 [GRCh37]
Chr3:3q26.33		 benign
NM_181426.2(CCDC39):c.1167+196del deletion not provided [RCV001681488] Chr3:180651205 [GRCh38]
Chr3:180368993 [GRCh37]
Chr3:3q26.33		 benign
NM_181426.2(CCDC39):c.1035-227T>C single nucleotide variant not provided [RCV001609509] Chr3:180651760 [GRCh38]
Chr3:180369548 [GRCh37]
Chr3:3q26.33		 benign
NM_181426.2(CCDC39):c.*734T>C single nucleotide variant Primary ciliary dyskinesia 14 [RCV001145453] Chr3:180614187 [GRCh38]
Chr3:180331975 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.2291T>C (p.Ile764Thr) single nucleotide variant Primary ciliary dyskinesia 14 [RCV001148436]|Primary ciliary dyskinesia [RCV002451341] Chr3:180616941 [GRCh38]
Chr3:180334729 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.1528-3C>T single nucleotide variant Primary ciliary dyskinesia 14 [RCV001143881]|Primary ciliary dyskinesia [RCV001057977] Chr3:180644260 [GRCh38]
Chr3:180362048 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.2586+1G>A single nucleotide variant Primary ciliary dyskinesia [RCV001206179] Chr3:180616515 [GRCh38]
Chr3:180334303 [GRCh37]
Chr3:3q26.33		 pathogenic|likely pathogenic
NM_181426.2(CCDC39):c.1285T>C (p.Ser429Pro) single nucleotide variant Primary ciliary dyskinesia 14 [RCV001143883] Chr3:180648242 [GRCh38]
Chr3:180366030 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.*572G>T single nucleotide variant Primary ciliary dyskinesia 14 [RCV001147396] Chr3:180614349 [GRCh38]
Chr3:180332137 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.*698A>G single nucleotide variant Primary ciliary dyskinesia 14 [RCV001145454] Chr3:180614223 [GRCh38]
Chr3:180332011 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.1133A>G (p.Glu378Gly) single nucleotide variant Primary ciliary dyskinesia [RCV001064173] Chr3:180651435 [GRCh38]
Chr3:180369223 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.*134A>T single nucleotide variant Primary ciliary dyskinesia 14 [RCV001149886] Chr3:180614787 [GRCh38]
Chr3:180332575 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.*538A>C single nucleotide variant Primary ciliary dyskinesia 14 [RCV001147397] Chr3:180614383 [GRCh38]
Chr3:180332171 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.2596G>T (p.Glu866Ter) single nucleotide variant Primary ciliary dyskinesia [RCV001047685] Chr3:180616354 [GRCh38]
Chr3:180334142 [GRCh37]
Chr3:3q26.33		 pathogenic
NM_181426.2(CCDC39):c.1528-6T>A single nucleotide variant Primary ciliary dyskinesia [RCV001056625] Chr3:180644263 [GRCh38]
Chr3:180362051 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.245G>A (p.Ser82Asn) single nucleotide variant Primary ciliary dyskinesia [RCV001233178] Chr3:180661973 [GRCh38]
Chr3:180379761 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.692T>C (p.Ile231Thr) single nucleotide variant Primary ciliary dyskinesia [RCV001063257] Chr3:180659498 [GRCh38]
Chr3:180377286 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.*533A>C single nucleotide variant Primary ciliary dyskinesia 14 [RCV001148323] Chr3:180614388 [GRCh38]
Chr3:180332176 [GRCh37]
Chr3:3q26.33		 uncertain significance
GRCh37/hg19 3q26.33(chr3:179016729-181527320)x1 copy number loss not provided [RCV001259729] Chr3:179016729..181527320 [GRCh37]
Chr3:3q26.33		 pathogenic
NM_181426.2(CCDC39):c.331A>G (p.Ile111Val) single nucleotide variant Primary ciliary dyskinesia [RCV001255249] Chr3:180661887 [GRCh38]
Chr3:180379675 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.1484_1485del (p.Lys495fs) deletion Primary ciliary dyskinesia [RCV001849603] Chr3:180647121..180647122 [GRCh38]
Chr3:180364909..180364910 [GRCh37]
Chr3:3q26.33		 pathogenic|likely pathogenic
NM_181426.2(CCDC39):c.1167G>A (p.Lys389=) single nucleotide variant Primary ciliary dyskinesia 14 [RCV001257432] Chr3:180651401 [GRCh38]
Chr3:180369189 [GRCh37]
Chr3:3q26.33		 likely pathogenic
GRCh37/hg19 3q26.33(chr3:180102701-181991155)x1 copy number loss Anophthalmia/microphthalmia-esophageal atresia syndrome [RCV001267845] Chr3:180102701..181991155 [GRCh37]
Chr3:3q26.33		 pathogenic
NM_181426.2(CCDC39):c.782T>A (p.Leu261Ter) single nucleotide variant Primary ciliary dyskinesia 14 [RCV001289544] Chr3:180654910 [GRCh38]
Chr3:180372698 [GRCh37]
Chr3:3q26.33		 likely pathogenic
NM_181426.2(CCDC39):c.2642C>T (p.Ser881Phe) single nucleotide variant Primary ciliary dyskinesia [RCV001307942] Chr3:180616308 [GRCh38]
Chr3:180334096 [GRCh37]
Chr3:3q26.33		 uncertain significance
NC_000003.11:g.(?_180332689)_(180397188_?)dup duplication Primary ciliary dyskinesia [RCV001348884] Chr3:180332689..180397188 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.290T>C (p.Val97Ala) single nucleotide variant Primary ciliary dyskinesia [RCV001303599] Chr3:180661928 [GRCh38]
Chr3:180379716 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.1795C>A (p.Arg599=) single nucleotide variant Primary ciliary dyskinesia [RCV001414531] Chr3:180642072 [GRCh38]
Chr3:180359860 [GRCh37]
Chr3:3q26.33		 likely benign
NM_181426.2(CCDC39):c.1568G>A (p.Ser523Asn) single nucleotide variant Primary ciliary dyskinesia [RCV001298191] Chr3:180644217 [GRCh38]
Chr3:180362005 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.1969G>A (p.Glu657Lys) single nucleotide variant Inborn genetic diseases [RCV002546216]|Primary ciliary dyskinesia [RCV001327216] Chr3:180631498 [GRCh38]
Chr3:180349286 [GRCh37]
Chr3:3q26.33		 likely benign|uncertain significance
NM_181426.2(CCDC39):c.2486G>A (p.Arg829His) single nucleotide variant Primary ciliary dyskinesia [RCV001372246] Chr3:180616616 [GRCh38]
Chr3:180334404 [GRCh37]
Chr3:3q26.33		 uncertain significance
NC_000003.11:g.(?_180365933)_(180381794_?)dup duplication Primary ciliary dyskinesia [RCV001309952] Chr3:180365933..180381794 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.2735C>T (p.Pro912Leu) single nucleotide variant Inborn genetic diseases [RCV002546147]|Primary ciliary dyskinesia [RCV001325934] Chr3:180615012 [GRCh38]
Chr3:180332800 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.2365del (p.Thr789fs) deletion Ciliary dyskinesia, primary, 14 [RCV001328797] Chr3:180616867 [GRCh38]
Chr3:180334655 [GRCh37]
Chr3:3q26.33		 pathogenic
NM_181426.2(CCDC39):c.899A>G (p.His300Arg) single nucleotide variant Primary ciliary dyskinesia 14 [RCV001335582] Chr3:180654793 [GRCh38]
Chr3:180372581 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.1525C>T (p.His509Tyr) single nucleotide variant Primary ciliary dyskinesia [RCV001365409] Chr3:180647081 [GRCh38]
Chr3:180364869 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.1485dup (p.Ser496fs) duplication Primary ciliary dyskinesia [RCV001381312] Chr3:180647120..180647121 [GRCh38]
Chr3:180364908..180364909 [GRCh37]
Chr3:3q26.33		 pathogenic
NM_181426.2(CCDC39):c.1208_1209insGGTGTGCTGTTGCGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAGGTGTGCTGTT (p.Phe403fs) insertion Primary ciliary dyskinesia [RCV001386661] Chr3:180648318..180648319 [GRCh38]
Chr3:180366106..180366107 [GRCh37]
Chr3:3q26.33		 pathogenic
NM_181426.2(CCDC39):c.1674_1675dup (p.Ile559fs) duplication Primary ciliary dyskinesia [RCV001382042] Chr3:180642191..180642192 [GRCh38]
Chr3:180359979..180359980 [GRCh37]
Chr3:3q26.33		 pathogenic
NM_181426.2(CCDC39):c.1035-10C>A single nucleotide variant Primary ciliary dyskinesia [RCV001489606] Chr3:180651543 [GRCh38]
Chr3:180369331 [GRCh37]
Chr3:3q26.33		 likely benign
NM_181426.2(CCDC39):c.91-331T>C single nucleotide variant not provided [RCV001695416] Chr3:180664317 [GRCh38]
Chr3:180382105 [GRCh37]
Chr3:3q26.33		 benign
NM_181426.2(CCDC39):c.1168-32A>G single nucleotide variant not provided [RCV001716677] Chr3:180648391 [GRCh38]
Chr3:180366179 [GRCh37]
Chr3:3q26.33		 benign
NM_181426.2(CCDC39):c.1362+280A>C single nucleotide variant not provided [RCV001649290] Chr3:180647885 [GRCh38]
Chr3:180365673 [GRCh37]
Chr3:3q26.33		 benign
NM_181426.2(CCDC39):c.90+214A>T single nucleotide variant not provided [RCV001539394] Chr3:180679077 [GRCh38]
Chr3:180396865 [GRCh37]
Chr3:3q26.33		 likely benign
NM_181426.2(CCDC39):c.1167+935A>C single nucleotide variant not provided [RCV001696742] Chr3:180650466 [GRCh38]
Chr3:180368254 [GRCh37]
Chr3:3q26.33		 benign
NM_181426.2(CCDC39):c.2040_2043del (p.Cys680fs) deletion Primary ciliary dyskinesia 14 [RCV001594432] Chr3:180619926..180619929 [GRCh38]
Chr3:180337714..180337717 [GRCh37]
Chr3:3q26.33		 pathogenic
NM_181426.2(CCDC39):c.255T>C (p.His85=) single nucleotide variant Primary ciliary dyskinesia [RCV001454157] Chr3:180661963 [GRCh38]
Chr3:180379751 [GRCh37]
Chr3:3q26.33		 likely benign
NM_181426.2(CCDC39):c.2335C>T (p.Gln779Ter) single nucleotide variant Primary ciliary dyskinesia 14 [RCV002499789]|Primary ciliary dyskinesia [RCV001380089] Chr3:180616897 [GRCh38]
Chr3:180334685 [GRCh37]
Chr3:3q26.33		 pathogenic|likely pathogenic
NM_181426.2(CCDC39):c.1964_1968del (p.Glu655fs) deletion Primary ciliary dyskinesia 14 [RCV002476721]|Primary ciliary dyskinesia [RCV001382031] Chr3:180631499..180631503 [GRCh38]
Chr3:180349287..180349291 [GRCh37]
Chr3:3q26.33		 pathogenic|likely pathogenic
NM_181426.2(CCDC39):c.1239A>G (p.Thr413=) single nucleotide variant Primary ciliary dyskinesia [RCV001461726] Chr3:180648288 [GRCh38]
Chr3:180366076 [GRCh37]
Chr3:3q26.33		 likely benign
NM_181426.2(CCDC39):c.1065A>C (p.Ile355=) single nucleotide variant Primary ciliary dyskinesia [RCV001416508] Chr3:180651503 [GRCh38]
Chr3:180369291 [GRCh37]
Chr3:3q26.33		 likely benign
NC_000003.11:g.(?_180397059)_(180397188_?)del deletion Primary ciliary dyskinesia [RCV001389933] Chr3:180397059..180397188 [GRCh37]
Chr3:3q26.33		 pathogenic
NM_181426.2(CCDC39):c.2061dup (p.Ala688fs) duplication Primary ciliary dyskinesia 14 [RCV001780459] Chr3:180619907..180619908 [GRCh38]
Chr3:180337695..180337696 [GRCh37]
Chr3:3q26.33		 pathogenic
NM_181426.2(CCDC39):c.1811A>G (p.Lys604Arg) single nucleotide variant not provided [RCV001765085] Chr3:180642056 [GRCh38]
Chr3:180359844 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.1999-2A>T single nucleotide variant Primary ciliary dyskinesia 14 [RCV001780458]|Primary ciliary dyskinesia [RCV002541113] Chr3:180619972 [GRCh38]
Chr3:180337760 [GRCh37]
Chr3:3q26.33		 pathogenic|likely pathogenic
NM_181426.2(CCDC39):c.1456dup (p.Glu486fs) duplication Primary ciliary dyskinesia 14 [RCV001780460] Chr3:180647149..180647150 [GRCh38]
Chr3:180364937..180364938 [GRCh37]
Chr3:3q26.33		 pathogenic
GRCh37/hg19 3q26.31-27.3(chr3:175119199-187592480)x3 copy number gain not provided [RCV001795540] Chr3:175119199..187592480 [GRCh37]
Chr3:3q26.31-27.3		 pathogenic
NM_181426.2(CCDC39):c.1540_1544del (p.Phe514fs) microsatellite Primary ciliary dyskinesia [RCV001864617] Chr3:180644241..180644245 [GRCh38]
Chr3:180362029..180362033 [GRCh37]
Chr3:3q26.33		 pathogenic
NM_181426.2(CCDC39):c.2350C>T (p.Gln784Ter) single nucleotide variant Primary ciliary dyskinesia [RCV001877893] Chr3:180616882 [GRCh38]
Chr3:180334670 [GRCh37]
Chr3:3q26.33		 pathogenic
GRCh37/hg19 3q25.32-26.33(chr3:157128738-181637333) copy number gain not specified [RCV002053382] Chr3:157128738..181637333 [GRCh37]
Chr3:3q25.32-26.33		 pathogenic
NM_181426.2(CCDC39):c.2178A>C (p.Lys726Asn) single nucleotide variant Primary ciliary dyskinesia [RCV001914590] Chr3:180619346 [GRCh38]
Chr3:180337134 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.739-7A>G single nucleotide variant Primary ciliary dyskinesia [RCV002025076] Chr3:180654960 [GRCh38]
Chr3:180372748 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.1621G>A (p.Asp541Asn) single nucleotide variant Primary ciliary dyskinesia [RCV001874774] Chr3:180644164 [GRCh38]
Chr3:180361952 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.1633A>G (p.Lys545Glu) single nucleotide variant Primary ciliary dyskinesia [RCV002002963] Chr3:180644152 [GRCh38]
Chr3:180361940 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.367T>G (p.Phe123Val) single nucleotide variant Primary ciliary dyskinesia [RCV001890370] Chr3:180660719 [GRCh38]
Chr3:180378507 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.1460T>C (p.Leu487Pro) single nucleotide variant Primary ciliary dyskinesia [RCV002020401] Chr3:180647146 [GRCh38]
Chr3:180364934 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.347G>C (p.Ser116Thr) single nucleotide variant Primary ciliary dyskinesia [RCV002020603] Chr3:180661871 [GRCh38]
Chr3:180379659 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.1356C>A (p.Tyr452Ter) single nucleotide variant Primary ciliary dyskinesia [RCV001849601] Chr3:180648171 [GRCh38]
Chr3:180365959 [GRCh37]
Chr3:3q26.33		 likely pathogenic
NM_181426.2(CCDC39):c.269C>T (p.Ala90Val) single nucleotide variant Primary ciliary dyskinesia [RCV001985256] Chr3:180661949 [GRCh38]
Chr3:180379737 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.436del (p.Trp146fs) deletion Primary ciliary dyskinesia [RCV001849602] Chr3:180660650 [GRCh38]
Chr3:180378438 [GRCh37]
Chr3:3q26.33		 pathogenic
NM_181426.2(CCDC39):c.2005C>A (p.Gln669Lys) single nucleotide variant Primary ciliary dyskinesia [RCV002036089] Chr3:180619964 [GRCh38]
Chr3:180337752 [GRCh37]
Chr3:3q26.33		 uncertain significance
NC_000003.11:g.(?_180397059)_(180397168_?)dup duplication Primary ciliary dyskinesia [RCV001997320] Chr3:180397059..180397168 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.609+3T>C single nucleotide variant Primary ciliary dyskinesia [RCV001938030] Chr3:180659674 [GRCh38]
Chr3:180377462 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.1490C>T (p.Thr497Ile) single nucleotide variant Primary ciliary dyskinesia [RCV001941070] Chr3:180647116 [GRCh38]
Chr3:180364904 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.1344A>T (p.Gln448His) single nucleotide variant Primary ciliary dyskinesia [RCV001993473] Chr3:180648183 [GRCh38]
Chr3:180365971 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.670A>G (p.Ile224Val) single nucleotide variant Primary ciliary dyskinesia [RCV001935249] Chr3:180659520 [GRCh38]
Chr3:180377308 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.2431C>T (p.Arg811Cys) single nucleotide variant Primary ciliary dyskinesia [RCV001879992] Chr3:180616671 [GRCh38]
Chr3:180334459 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.1247A>G (p.Glu416Gly) single nucleotide variant Primary ciliary dyskinesia [RCV001866575] Chr3:180648280 [GRCh38]
Chr3:180366068 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.2762C>T (p.Pro921Leu) single nucleotide variant Primary ciliary dyskinesia [RCV001909152] Chr3:180614985 [GRCh38]
Chr3:180332773 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.2155T>C (p.Ser719Pro) single nucleotide variant Primary ciliary dyskinesia [RCV001952555] Chr3:180619814 [GRCh38]
Chr3:180337602 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.662A>G (p.Gln221Arg) single nucleotide variant Primary ciliary dyskinesia [RCV002030225] Chr3:180659528 [GRCh38]
Chr3:180377316 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.2406+6G>A single nucleotide variant Primary ciliary dyskinesia [RCV001893671] Chr3:180616820 [GRCh38]
Chr3:180334608 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.2542_2546del (p.Glu848fs) deletion Primary ciliary dyskinesia [RCV001951071] Chr3:180616556..180616560 [GRCh38]
Chr3:180334344..180334348 [GRCh37]
Chr3:3q26.33		 pathogenic
NM_181426.2(CCDC39):c.531A>G (p.Gln177=) single nucleotide variant Primary ciliary dyskinesia 14 [RCV002486768]|Primary ciliary dyskinesia [RCV002033961] Chr3:180659755 [GRCh38]
Chr3:180377543 [GRCh37]
Chr3:3q26.33		 likely benign|uncertain significance
NM_181426.2(CCDC39):c.795G>T (p.Lys265Asn) single nucleotide variant Primary ciliary dyskinesia [RCV001981489] Chr3:180654897 [GRCh38]
Chr3:180372685 [GRCh37]
Chr3:3q26.33		 uncertain significance
NC_000003.11:g.(?_180332709)_(180707390_?)dup duplication 3-methylglutaconic aciduria type 5 [RCV001925528] Chr3:180332709..180707390 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.2017G>T (p.Glu673Ter) single nucleotide variant Primary ciliary dyskinesia [RCV001934811] Chr3:180619952 [GRCh38]
Chr3:180337740 [GRCh37]
Chr3:3q26.33		 pathogenic
NM_181426.2(CCDC39):c.1167+1248A>G single nucleotide variant Primary ciliary dyskinesia [RCV001992191] Chr3:180650153 [GRCh38]
Chr3:180367941 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.1887C>T (p.Arg629=) single nucleotide variant Primary ciliary dyskinesia [RCV002027863] Chr3:180631580 [GRCh38]
Chr3:180349368 [GRCh37]
Chr3:3q26.33		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_181426.2(CCDC39):c.2366C>T (p.Thr789Met) single nucleotide variant Primary ciliary dyskinesia [RCV001919082] Chr3:180616866 [GRCh38]
Chr3:180334654 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.1019A>G (p.His340Arg) single nucleotide variant Primary ciliary dyskinesia [RCV001954923] Chr3:180652178 [GRCh38]
Chr3:180369966 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.2303C>T (p.Ala768Val) single nucleotide variant Primary ciliary dyskinesia [RCV001926431] Chr3:180616929 [GRCh38]
Chr3:180334717 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.867A>G (p.Lys289=) single nucleotide variant Primary ciliary dyskinesia [RCV001898403] Chr3:180654825 [GRCh38]
Chr3:180372613 [GRCh37]
Chr3:3q26.33		 likely benign|uncertain significance
NM_181426.2(CCDC39):c.514A>G (p.Arg172Gly) single nucleotide variant Primary ciliary dyskinesia [RCV001903060] Chr3:180660572 [GRCh38]
Chr3:180378360 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.2158+9G>A single nucleotide variant Primary ciliary dyskinesia [RCV002086818] Chr3:180619802 [GRCh38]
Chr3:180337590 [GRCh37]
Chr3:3q26.33		 likely benign
NM_181426.2(CCDC39):c.1437G>T (p.Ala479=) single nucleotide variant Primary ciliary dyskinesia [RCV002075615] Chr3:180647169 [GRCh38]
Chr3:180364957 [GRCh37]
Chr3:3q26.33		 likely benign
NM_181426.2(CCDC39):c.2400C>G (p.Thr800=) single nucleotide variant Primary ciliary dyskinesia [RCV002143653] Chr3:180616832 [GRCh38]
Chr3:180334620 [GRCh37]
Chr3:3q26.33		 likely benign
NM_181426.2(CCDC39):c.2587-20_2587-19delinsAG indel Primary ciliary dyskinesia [RCV002137459] Chr3:180616382..180616383 [GRCh38]
Chr3:180334170..180334171 [GRCh37]
Chr3:3q26.33		 likely benign
NM_181426.2(CCDC39):c.609+15G>T single nucleotide variant Primary ciliary dyskinesia [RCV002174607] Chr3:180659662 [GRCh38]
Chr3:180377450 [GRCh37]
Chr3:3q26.33		 likely benign
NM_181426.2(CCDC39):c.516+9T>C single nucleotide variant Primary ciliary dyskinesia [RCV002079093] Chr3:180660561 [GRCh38]
Chr3:180378349 [GRCh37]
Chr3:3q26.33		 likely benign
NM_181426.2(CCDC39):c.610-15C>T single nucleotide variant Primary ciliary dyskinesia [RCV002220513] Chr3:180659595 [GRCh38]
Chr3:180377383 [GRCh37]
Chr3:3q26.33		 likely benign
NM_181426.2(CCDC39):c.1998+14del deletion Primary ciliary dyskinesia [RCV002155274] Chr3:180631455 [GRCh38]
Chr3:180349243 [GRCh37]
Chr3:3q26.33		 likely benign
NM_181426.2(CCDC39):c.516+14A>C single nucleotide variant Primary ciliary dyskinesia [RCV002219029] Chr3:180660556 [GRCh38]
Chr3:180378344 [GRCh37]
Chr3:3q26.33		 likely benign
NM_181426.2(CCDC39):c.211-13T>G single nucleotide variant Primary ciliary dyskinesia [RCV002202993] Chr3:180662020 [GRCh38]
Chr3:180379808 [GRCh37]
Chr3:3q26.33		 likely benign
NM_181426.2(CCDC39):c.1362+20A>T single nucleotide variant Primary ciliary dyskinesia [RCV002081807] Chr3:180648145 [GRCh38]
Chr3:180365933 [GRCh37]
Chr3:3q26.33		 likely benign
NC_000003.11:g.(?_180332709)_(180707390_?)del deletion 3-methylglutaconic aciduria type 5 [RCV003113665] Chr3:180332709..180707390 [GRCh37]
Chr3:3q26.33		 pathogenic
NM_181426.2(CCDC39):c.90+1G>C single nucleotide variant Primary ciliary dyskinesia 14 [RCV003153221] Chr3:180679290 [GRCh38]
Chr3:180397078 [GRCh37]
Chr3:3q26.33		 likely pathogenic
NM_181426.2(CCDC39):c.517-96_517-91del microsatellite not provided [RCV002254066] Chr3:180659860..180659865 [GRCh38]
Chr3:180377648..180377653 [GRCh37]
Chr3:3q26.33		 likely benign
NM_181426.2(CCDC39):c.1665+3G>A single nucleotide variant Primary ciliary dyskinesia 14 [RCV002279866]|Primary ciliary dyskinesia [RCV002400411] Chr3:180644117 [GRCh38]
Chr3:180361905 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.1167+205del deletion not provided [RCV002286177] Chr3:180651196 [GRCh38]
Chr3:180368984 [GRCh37]
Chr3:3q26.33		 likely benign
GRCh37/hg19 3q26.31-29(chr3:171558472-197871052)x3 copy number gain Isolated anorectal malformation [RCV002286610] Chr3:171558472..197871052 [GRCh37]
Chr3:3q26.31-29		 likely pathogenic
NM_181426.2(CCDC39):c.1666-58del deletion not provided [RCV002285719] Chr3:180642259 [GRCh38]
Chr3:180360047 [GRCh37]
Chr3:3q26.33		 likely benign
NM_181426.2(CCDC39):c.1238C>G (p.Thr413Arg) single nucleotide variant Primary ciliary dyskinesia [RCV002367492] Chr3:180648289 [GRCh38]
Chr3:180366077 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.35A>G (p.Glu12Gly) single nucleotide variant Primary ciliary dyskinesia [RCV002455177] Chr3:180679346 [GRCh38]
Chr3:180397134 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.215T>C (p.Leu72Pro) single nucleotide variant Primary ciliary dyskinesia [RCV002297389] Chr3:180662003 [GRCh38]
Chr3:180379791 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.669C>A (p.Leu223=) single nucleotide variant Primary ciliary dyskinesia [RCV002367104] Chr3:180659521 [GRCh38]
Chr3:180377309 [GRCh37]
Chr3:3q26.33		 likely benign
NM_181426.2(CCDC39):c.1874+2T>C single nucleotide variant Primary ciliary dyskinesia [RCV002415156] Chr3:180641991 [GRCh38]
Chr3:180359779 [GRCh37]
Chr3:3q26.33		 likely pathogenic
NM_181426.2(CCDC39):c.2112C>T (p.Ser704=) single nucleotide variant Primary ciliary dyskinesia [RCV002417504] Chr3:180619857 [GRCh38]
Chr3:180337645 [GRCh37]
Chr3:3q26.33		 likely benign
NC_000003.11:g.180370043_180370044insAAAGAATCCAGCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAA insertion Primary ciliary dyskinesia [RCV002858707] Chr3:180652255..180652256 [GRCh38]
Chr3:180370043..180370044 [GRCh37]
Chr3:3q26.33		 pathogenic
NM_181426.2(CCDC39):c.107A>G (p.Asp36Gly) single nucleotide variant Primary ciliary dyskinesia [RCV002424180] Chr3:180663970 [GRCh38]
Chr3:180381758 [GRCh37]
Chr3:3q26.33		 uncertain significance
NC_000003.12:g.(179547548_181649736)_(181808821_182152788)del deletion Anophthalmia/microphthalmia-esophageal atresia syndrome [RCV000013667] Chr3:181649736..181808821 [GRCh38]
Chr3:3q26.33		 pathogenic
NM_181426.2(CCDC39):c.307C>A (p.Arg103=) single nucleotide variant Primary ciliary dyskinesia [RCV002319861] Chr3:180661911 [GRCh38]
Chr3:180379699 [GRCh37]
Chr3:3q26.33		 likely benign
NM_181426.2(CCDC39):c.644A>C (p.Lys215Thr) single nucleotide variant Primary ciliary dyskinesia [RCV002361823] Chr3:180659546 [GRCh38]
Chr3:180377334 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.1404A>G (p.Leu468=) single nucleotide variant Primary ciliary dyskinesia [RCV002389346] Chr3:180647202 [GRCh38]
Chr3:180364990 [GRCh37]
Chr3:3q26.33		 likely benign
NM_181426.2(CCDC39):c.764C>T (p.Thr255Met) single nucleotide variant Primary ciliary dyskinesia [RCV002396388] Chr3:180654928 [GRCh38]
Chr3:180372716 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.1613T>G (p.Leu538Arg) single nucleotide variant Primary ciliary dyskinesia [RCV002400943] Chr3:180644172 [GRCh38]
Chr3:180361960 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.1898_1901del (p.Ser633fs) deletion Primary ciliary dyskinesia [RCV002408148] Chr3:180631566..180631569 [GRCh38]
Chr3:180349354..180349357 [GRCh37]
Chr3:3q26.33		 pathogenic
NM_181426.2(CCDC39):c.2414A>C (p.Lys805Thr) single nucleotide variant Primary ciliary dyskinesia [RCV002459741] Chr3:180616688 [GRCh38]
Chr3:180334476 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.1625_1632del (p.Arg542fs) deletion Primary ciliary dyskinesia [RCV002401130] Chr3:180644153..180644160 [GRCh38]
Chr3:180361941..180361948 [GRCh37]
Chr3:3q26.33		 pathogenic
NM_181426.2(CCDC39):c.501T>A (p.Asp167Glu) single nucleotide variant Primary ciliary dyskinesia [RCV002335564] Chr3:180660585 [GRCh38]
Chr3:180378373 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.1639C>T (p.Leu547Phe) single nucleotide variant Primary ciliary dyskinesia [RCV002403511] Chr3:180644146 [GRCh38]
Chr3:180361934 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.216_217del (p.Cys73fs) deletion Primary ciliary dyskinesia [RCV002432584] Chr3:180662001..180662002 [GRCh38]
Chr3:180379789..180379790 [GRCh37]
Chr3:3q26.33		 pathogenic
NM_181426.2(CCDC39):c.395T>C (p.Leu132Ser) single nucleotide variant Primary ciliary dyskinesia [RCV002357677] Chr3:180660691 [GRCh38]
Chr3:180378479 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.1557T>C (p.His519=) single nucleotide variant Primary ciliary dyskinesia [RCV002405336] Chr3:180644228 [GRCh38]
Chr3:180362016 [GRCh37]
Chr3:3q26.33		 likely benign
NM_181426.2(CCDC39):c.1704T>G (p.Val568=) single nucleotide variant Primary ciliary dyskinesia [RCV002398784] Chr3:180642163 [GRCh38]
Chr3:180359951 [GRCh37]
Chr3:3q26.33		 likely benign
NM_181426.2(CCDC39):c.2453A>T (p.Asp818Val) single nucleotide variant Primary ciliary dyskinesia [RCV002450529] Chr3:180616649 [GRCh38]
Chr3:180334437 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.1797A>C (p.Arg599=) single nucleotide variant Primary ciliary dyskinesia [RCV002404255] Chr3:180642070 [GRCh38]
Chr3:180359858 [GRCh37]
Chr3:3q26.33		 likely benign
NM_181426.2(CCDC39):c.308G>A (p.Arg103Gln) single nucleotide variant Primary ciliary dyskinesia [RCV002325782] Chr3:180661910 [GRCh38]
Chr3:180379698 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.2381C>T (p.Pro794Leu) single nucleotide variant Primary ciliary dyskinesia [RCV002457902] Chr3:180616851 [GRCh38]
Chr3:180334639 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.2469A>G (p.Glu823=) single nucleotide variant Primary ciliary dyskinesia [RCV002450591] Chr3:180616633 [GRCh38]
Chr3:180334421 [GRCh37]
Chr3:3q26.33		 likely benign
NM_181426.2(CCDC39):c.277G>T (p.Glu93Ter) single nucleotide variant Primary ciliary dyskinesia [RCV002439723] Chr3:180661941 [GRCh38]
Chr3:180379729 [GRCh37]
Chr3:3q26.33		 pathogenic
NM_181426.2(CCDC39):c.63C>T (p.Asn21=) single nucleotide variant Primary ciliary dyskinesia [RCV003032403] Chr3:180679318 [GRCh38]
Chr3:180397106 [GRCh37]
Chr3:3q26.33		 likely benign
NM_181426.2(CCDC39):c.765G>A (p.Thr255=) single nucleotide variant Primary ciliary dyskinesia [RCV002730642] Chr3:180654927 [GRCh38]
Chr3:180372715 [GRCh37]
Chr3:3q26.33		 likely benign
NM_181426.2(CCDC39):c.516+20A>T single nucleotide variant Primary ciliary dyskinesia [RCV002838417] Chr3:180660550 [GRCh38]
Chr3:180378338 [GRCh37]
Chr3:3q26.33		 likely benign
NM_181426.2(CCDC39):c.74del (p.Lys25fs) deletion Primary ciliary dyskinesia [RCV002815405] Chr3:180679307 [GRCh38]
Chr3:180397095 [GRCh37]
Chr3:3q26.33		 pathogenic
NM_181426.2(CCDC39):c.2407-20T>A single nucleotide variant Primary ciliary dyskinesia [RCV002881148] Chr3:180616715 [GRCh38]
Chr3:180334503 [GRCh37]
Chr3:3q26.33		 likely benign
NM_181426.2(CCDC39):c.541C>T (p.Leu181=) single nucleotide variant Primary ciliary dyskinesia [RCV002775077] Chr3:180659745 [GRCh38]
Chr3:180377533 [GRCh37]
Chr3:3q26.33		 likely benign
NM_181426.2(CCDC39):c.1825A>G (p.Met609Val) single nucleotide variant Primary ciliary dyskinesia [RCV002756517] Chr3:180642042 [GRCh38]
Chr3:180359830 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.2205T>C (p.Ala735=) single nucleotide variant Primary ciliary dyskinesia [RCV002880570] Chr3:180619319 [GRCh38]
Chr3:180337107 [GRCh37]
Chr3:3q26.33		 likely benign
NM_181426.2(CCDC39):c.949dup (p.Thr317fs) duplication Primary ciliary dyskinesia [RCV003098885] Chr3:180652247..180652248 [GRCh38]
Chr3:180370035..180370036 [GRCh37]
Chr3:3q26.33		 pathogenic
NM_181426.2(CCDC39):c.52C>T (p.Pro18Ser) single nucleotide variant Primary ciliary dyskinesia [RCV002786041] Chr3:180679329 [GRCh38]
Chr3:180397117 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.1388G>A (p.Arg463Gln) single nucleotide variant Primary ciliary dyskinesia [RCV002622137] Chr3:180647218 [GRCh38]
Chr3:180365006 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.1998+20A>G single nucleotide variant Primary ciliary dyskinesia [RCV003055421] Chr3:180631449 [GRCh38]
Chr3:180349237 [GRCh37]
Chr3:3q26.33		 likely benign
NM_181426.2(CCDC39):c.640C>G (p.Arg214Gly) single nucleotide variant Inborn genetic diseases [RCV002739018] Chr3:180659550 [GRCh38]
Chr3:180377338 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.2470C>T (p.Gln824Ter) single nucleotide variant Primary ciliary dyskinesia [RCV002591242] Chr3:180616632 [GRCh38]
Chr3:180334420 [GRCh37]
Chr3:3q26.33		 pathogenic
NM_181426.2(CCDC39):c.1627T>A (p.Ser543Thr) single nucleotide variant Inborn genetic diseases [RCV002849223] Chr3:180644158 [GRCh38]
Chr3:180361946 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.29A>T (p.His10Leu) single nucleotide variant Primary ciliary dyskinesia [RCV002590902] Chr3:180679352 [GRCh38]
Chr3:180397140 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.264C>T (p.Ala88=) single nucleotide variant Primary ciliary dyskinesia [RCV002637765] Chr3:180661954 [GRCh38]
Chr3:180379742 [GRCh37]
Chr3:3q26.33		 likely benign
NM_181426.2(CCDC39):c.1888G>A (p.Glu630Lys) single nucleotide variant Inborn genetic diseases [RCV002758446] Chr3:180631579 [GRCh38]
Chr3:180349367 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.2265+15C>A single nucleotide variant Primary ciliary dyskinesia [RCV003078784] Chr3:180619244 [GRCh38]
Chr3:180337032 [GRCh37]
Chr3:3q26.33		 likely benign
NM_181426.2(CCDC39):c.231G>A (p.Glu77=) single nucleotide variant Primary ciliary dyskinesia [RCV002948824] Chr3:180661987 [GRCh38]
Chr3:180379775 [GRCh37]
Chr3:3q26.33		 likely benign
NM_181426.2(CCDC39):c.1709G>T (p.Arg570Leu) single nucleotide variant Primary ciliary dyskinesia [RCV002658906] Chr3:180642158 [GRCh38]
Chr3:180359946 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.1808T>C (p.Ile603Thr) single nucleotide variant Primary ciliary dyskinesia [RCV002795237] Chr3:180642059 [GRCh38]
Chr3:180359847 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.811A>G (p.Ser271Gly) single nucleotide variant Primary ciliary dyskinesia [RCV002820368] Chr3:180654881 [GRCh38]
Chr3:180372669 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.1606C>A (p.Leu536Ile) single nucleotide variant Primary ciliary dyskinesia [RCV002637247] Chr3:180644179 [GRCh38]
Chr3:180361967 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.721A>G (p.Ile241Val) single nucleotide variant Primary ciliary dyskinesia [RCV002948989] Chr3:180659469 [GRCh38]
Chr3:180377257 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.985A>G (p.Arg329Gly) single nucleotide variant Primary ciliary dyskinesia [RCV002797154] Chr3:180652212 [GRCh38]
Chr3:180370000 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.2170G>A (p.Glu724Lys) single nucleotide variant Primary ciliary dyskinesia [RCV002781027] Chr3:180619354 [GRCh38]
Chr3:180337142 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.2194C>T (p.Gln732Ter) single nucleotide variant Primary ciliary dyskinesia [RCV002620560] Chr3:180619330 [GRCh38]
Chr3:180337118 [GRCh37]
Chr3:3q26.33		 pathogenic
NM_181426.2(CCDC39):c.2622C>T (p.Gly874=) single nucleotide variant Primary ciliary dyskinesia [RCV002574525] Chr3:180616328 [GRCh38]
Chr3:180334116 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.2406+9A>C single nucleotide variant Primary ciliary dyskinesia [RCV002700822] Chr3:180616817 [GRCh38]
Chr3:180334605 [GRCh37]
Chr3:3q26.33		 likely benign
NM_181426.2(CCDC39):c.2406+5C>T single nucleotide variant Primary ciliary dyskinesia [RCV002800985] Chr3:180616821 [GRCh38]
Chr3:180334609 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.1874G>A (p.Ser625Asn) single nucleotide variant Primary ciliary dyskinesia [RCV002710942] Chr3:180641993 [GRCh38]
Chr3:180359781 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.7A>G (p.Ser3Gly) single nucleotide variant Primary ciliary dyskinesia [RCV002875701] Chr3:180679374 [GRCh38]
Chr3:180397162 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.1602T>C (p.Asn534=) single nucleotide variant Primary ciliary dyskinesia [RCV003040911] Chr3:180644183 [GRCh38]
Chr3:180361971 [GRCh37]
Chr3:3q26.33		 likely benign
NM_181426.2(CCDC39):c.389A>G (p.Asp130Gly) single nucleotide variant Primary ciliary dyskinesia [RCV002918499] Chr3:180660697 [GRCh38]
Chr3:180378485 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.210+2T>C single nucleotide variant Primary ciliary dyskinesia 14 [RCV003152801]|Primary ciliary dyskinesia [RCV002594438] Chr3:180663865 [GRCh38]
Chr3:180381653 [GRCh37]
Chr3:3q26.33		 pathogenic
NM_181426.2(CCDC39):c.297T>C (p.Asp99=) single nucleotide variant Primary ciliary dyskinesia [RCV003083839] Chr3:180661921 [GRCh38]
Chr3:180379709 [GRCh37]
Chr3:3q26.33		 likely benign
NM_181426.2(CCDC39):c.1415_1417del (p.Ile472del) deletion Primary ciliary dyskinesia [RCV002644375] Chr3:180647189..180647191 [GRCh38]
Chr3:180364977..180364979 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.560A>G (p.Gln187Arg) single nucleotide variant Inborn genetic diseases [RCV002665831] Chr3:180659726 [GRCh38]
Chr3:180377514 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.1028C>T (p.Thr343Ile) single nucleotide variant Primary ciliary dyskinesia [RCV002595370] Chr3:180652169 [GRCh38]
Chr3:180369957 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.1965A>G (p.Glu655=) single nucleotide variant Primary ciliary dyskinesia [RCV002914867] Chr3:180631502 [GRCh38]
Chr3:180349290 [GRCh37]
Chr3:3q26.33		 likely benign
NM_181426.2(CCDC39):c.891T>G (p.Tyr297Ter) single nucleotide variant Primary ciliary dyskinesia [RCV002918992] Chr3:180654801 [GRCh38]
Chr3:180372589 [GRCh37]
Chr3:3q26.33		 pathogenic
NM_181426.2(CCDC39):c.207A>G (p.Thr69=) single nucleotide variant Primary ciliary dyskinesia [RCV002596442] Chr3:180663870 [GRCh38]
Chr3:180381658 [GRCh37]
Chr3:3q26.33		 likely benign
NM_181426.2(CCDC39):c.485dup (p.Tyr163fs) duplication Primary ciliary dyskinesia [RCV002651762] Chr3:180660600..180660601 [GRCh38]
Chr3:180378388..180378389 [GRCh37]
Chr3:3q26.33		 pathogenic
NM_181426.2(CCDC39):c.610-2A>C single nucleotide variant Primary ciliary dyskinesia [RCV002602807] Chr3:180659582 [GRCh38]
Chr3:180377370 [GRCh37]
Chr3:3q26.33		 pathogenic
NM_181426.2(CCDC39):c.2649A>C (p.Ser883=) single nucleotide variant Primary ciliary dyskinesia [RCV003030688] Chr3:180616301 [GRCh38]
Chr3:180334089 [GRCh37]
Chr3:3q26.33		 likely benign
NM_181426.2(CCDC39):c.2061A>G (p.Lys687=) single nucleotide variant Primary ciliary dyskinesia [RCV002963181] Chr3:180619908 [GRCh38]
Chr3:180337696 [GRCh37]
Chr3:3q26.33		 likely benign
NM_181426.2(CCDC39):c.1167+3A>G single nucleotide variant Primary ciliary dyskinesia [RCV003091323] Chr3:180651398 [GRCh38]
Chr3:180369186 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.2528T>C (p.Val843Ala) single nucleotide variant Primary ciliary dyskinesia [RCV002576557] Chr3:180616574 [GRCh38]
Chr3:180334362 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.1696C>T (p.Leu566Phe) single nucleotide variant Primary ciliary dyskinesia [RCV002922471] Chr3:180642171 [GRCh38]
Chr3:180359959 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.2172G>A (p.Glu724=) single nucleotide variant Primary ciliary dyskinesia [RCV003060862] Chr3:180619352 [GRCh38]
Chr3:180337140 [GRCh37]
Chr3:3q26.33		 likely benign
NM_181426.2(CCDC39):c.2407-20T>C single nucleotide variant Primary ciliary dyskinesia [RCV002629698] Chr3:180616715 [GRCh38]
Chr3:180334503 [GRCh37]
Chr3:3q26.33		 likely benign
NM_181426.2(CCDC39):c.570G>T (p.Lys190Asn) single nucleotide variant Primary ciliary dyskinesia [RCV002578420] Chr3:180659716 [GRCh38]
Chr3:180377504 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.830C>T (p.Thr277Ile) single nucleotide variant Primary ciliary dyskinesia [RCV002717323] Chr3:180654862 [GRCh38]
Chr3:180372650 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.1687C>T (p.Leu563Phe) single nucleotide variant Primary ciliary dyskinesia [RCV003063408] Chr3:180642180 [GRCh38]
Chr3:180359968 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.388G>T (p.Asp130Tyr) single nucleotide variant Primary ciliary dyskinesia [RCV002647920] Chr3:180660698 [GRCh38]
Chr3:180378486 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.841A>T (p.Lys281Ter) single nucleotide variant Primary ciliary dyskinesia [RCV002577203] Chr3:180654851 [GRCh38]
Chr3:180372639 [GRCh37]
Chr3:3q26.33		 pathogenic
NM_181426.2(CCDC39):c.2131C>A (p.Gln711Lys) single nucleotide variant Inborn genetic diseases [RCV002960129] Chr3:180619838 [GRCh38]
Chr3:180337626 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.1886G>A (p.Arg629His) single nucleotide variant Inborn genetic diseases [RCV003065049]|Primary ciliary dyskinesia [RCV003065048] Chr3:180631581 [GRCh38]
Chr3:180349369 [GRCh37]
Chr3:3q26.33		 likely benign|uncertain significance
NM_181426.2(CCDC39):c.1999-3T>C single nucleotide variant Primary ciliary dyskinesia [RCV002578098] Chr3:180619973 [GRCh38]
Chr3:180337761 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.1363-13T>A single nucleotide variant Primary ciliary dyskinesia [RCV002578126] Chr3:180647256 [GRCh38]
Chr3:180365044 [GRCh37]
Chr3:3q26.33		 likely benign
NM_181426.2(CCDC39):c.455A>C (p.His152Pro) single nucleotide variant Primary ciliary dyskinesia [RCV002578138] Chr3:180660631 [GRCh38]
Chr3:180378419 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.1168-14A>G single nucleotide variant Primary ciliary dyskinesia [RCV002812008] Chr3:180648373 [GRCh38]
Chr3:180366161 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.781T>C (p.Leu261=) single nucleotide variant Primary ciliary dyskinesia [RCV002628603] Chr3:180654911 [GRCh38]
Chr3:180372699 [GRCh37]
Chr3:3q26.33		 likely benign
NM_181426.2(CCDC39):c.2391_2394del (p.Glu797_Arg798insTer) deletion Primary ciliary dyskinesia [RCV003046357] Chr3:180616838..180616841 [GRCh38]
Chr3:180334626..180334629 [GRCh37]
Chr3:3q26.33		 pathogenic
NM_181426.2(CCDC39):c.2406+9_2406+10del microsatellite Primary ciliary dyskinesia [RCV003031623] Chr3:180616816..180616817 [GRCh38]
Chr3:180334604..180334605 [GRCh37]
Chr3:3q26.33		 likely benign
NM_181426.2(CCDC39):c.539G>T (p.Arg180Ile) single nucleotide variant Primary ciliary dyskinesia [RCV002581742] Chr3:180659747 [GRCh38]
Chr3:180377535 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.2670-10T>G single nucleotide variant Primary ciliary dyskinesia [RCV002716357] Chr3:180615087 [GRCh38]
Chr3:180332875 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.1968G>A (p.Glu656=) single nucleotide variant Primary ciliary dyskinesia [RCV003086070] Chr3:180631499 [GRCh38]
Chr3:180349287 [GRCh37]
Chr3:3q26.33		 likely benign
NM_181426.2(CCDC39):c.1183C>T (p.Leu395=) single nucleotide variant Primary ciliary dyskinesia [RCV003051019] Chr3:180648344 [GRCh38]
Chr3:180366132 [GRCh37]
Chr3:3q26.33		 likely benign
NM_181426.2(CCDC39):c.2266-3C>G single nucleotide variant Primary ciliary dyskinesia [RCV002605532] Chr3:180616969 [GRCh38]
Chr3:180334757 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.2670-14G>A single nucleotide variant Primary ciliary dyskinesia [RCV003067815] Chr3:180615091 [GRCh38]
Chr3:180332879 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.1747C>A (p.Leu583Ile) single nucleotide variant Primary ciliary dyskinesia [RCV002582463] Chr3:180642120 [GRCh38]
Chr3:180359908 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.2325A>G (p.Leu775=) single nucleotide variant Primary ciliary dyskinesia [RCV003052771] Chr3:180616907 [GRCh38]
Chr3:180334695 [GRCh37]
Chr3:3q26.33		 likely benign
NM_181426.2(CCDC39):c.1486T>A (p.Ser496Thr) single nucleotide variant Inborn genetic diseases [RCV002606320]|Primary ciliary dyskinesia [RCV002606319] Chr3:180647120 [GRCh38]
Chr3:180364908 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.2406+2dup duplication Primary ciliary dyskinesia [RCV002584586] Chr3:180616823..180616824 [GRCh38]
Chr3:180334611..180334612 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.1527+18C>T single nucleotide variant Primary ciliary dyskinesia [RCV002612488] Chr3:180647061 [GRCh38]
Chr3:180364849 [GRCh37]
Chr3:3q26.33		 likely benign
NM_181426.2(CCDC39):c.1708C>G (p.Arg570Gly) single nucleotide variant Primary ciliary dyskinesia [RCV002610552] Chr3:180642159 [GRCh38]
Chr3:180359947 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.749G>A (p.Arg250Lys) single nucleotide variant Primary ciliary dyskinesia 14 [RCV003144696] Chr3:180654943 [GRCh38]
Chr3:180372731 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.1625G>T (p.Arg542Ile) single nucleotide variant Primary ciliary dyskinesia [RCV003182498] Chr3:180644160 [GRCh38]
Chr3:180361948 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.581A>G (p.Asn194Ser) single nucleotide variant Primary ciliary dyskinesia [RCV003187190] Chr3:180659705 [GRCh38]
Chr3:180377493 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.2555T>A (p.Ile852Asn) single nucleotide variant Inborn genetic diseases [RCV003207078] Chr3:180616547 [GRCh38]
Chr3:180334335 [GRCh37]
Chr3:3q26.33		 uncertain significance
NM_181426.2(CCDC39):c.1202T>C (p.Val401Ala) single nucleotide variant Primary ciliary dyskinesia [RCV003171147] Chr3:180648325 [GRCh38]
Chr3:180366113 [GRCh37]
Chr3:3q26.33		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1329
Count of miRNA genes:508
Interacting mature miRNAs:559
Transcripts:ENST00000273654, ENST00000442201, ENST00000471307, ENST00000473854, ENST00000476379, ENST00000485055, ENST00000489868, ENST00000495817
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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

Markers in Region
RH66248  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373180,334,471 - 180,334,657UniSTSGRCh37
Build 363181,817,165 - 181,817,351RGDNCBI36
Celera3178,766,594 - 178,766,780RGD
Cytogenetic Map3q26.33UniSTS
HuRef3177,738,905 - 177,739,091UniSTS
GeneMap99-GB4 RH Map3677.24UniSTS
NCBI RH Map31828.1UniSTS
WI-11544  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373180,335,974 - 180,336,112UniSTSGRCh37
Build 363181,818,668 - 181,818,806RGDNCBI36
Celera3178,768,097 - 178,768,235RGD
Cytogenetic Map3q26.33UniSTS
HuRef3177,740,408 - 177,740,546UniSTS
GeneMap99-GB4 RH Map3676.73UniSTS
Whitehead-RH Map3830.6UniSTS


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 3 2 2 1 74 1 75 28 11 1 246 39 42 37
Low 2263 1898 1426 370 1130 209 4190 1829 3135 266 1122 1481 172 1 1157 2724 1 1
Below cutoff 137 1074 291 253 1009 255 76 319 603 147 97 64 2 5 27 3

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000471307
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3180,661,872 - 180,870,933 (-)Ensembl
RefSeq Acc Id: ENST00000473854   ⟹   ENSP00000418482
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3180,602,858 - 180,616,652 (-)Ensembl
RefSeq Acc Id: ENST00000476379   ⟹   ENSP00000417960
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3180,614,008 - 180,679,489 (-)Ensembl
RefSeq Acc Id: ENST00000489868   ⟹   ENSP00000420025
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3180,609,511 - 180,616,617 (-)Ensembl
RefSeq Acc Id: ENST00000650641
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3180,618,368 - 180,679,459 (-)Ensembl
RefSeq Acc Id: ENST00000650889
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3180,643,945 - 180,684,942 (-)Ensembl
RefSeq Acc Id: ENST00000651046   ⟹   ENSP00000499175
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3180,614,067 - 180,679,474 (-)Ensembl
RefSeq Acc Id: ENST00000651576
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3180,614,008 - 180,737,874 (-)Ensembl
RefSeq Acc Id: ENST00000651818
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3180,644,003 - 180,684,912 (-)Ensembl
RefSeq Acc Id: ENST00000651922
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3180,614,244 - 180,652,521 (-)Ensembl
RefSeq Acc Id: ENST00000652010
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3180,614,024 - 180,621,599 (-)Ensembl
RefSeq Acc Id: ENST00000652024
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3180,644,127 - 180,679,471 (-)Ensembl
RefSeq Acc Id: ENST00000652408
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3180,618,700 - 180,684,907 (-)Ensembl
RefSeq Acc Id: NM_181426   ⟹   NP_852091
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383180,614,008 - 180,679,489 (-)NCBI
GRCh373180,331,360 - 180,397,300 (-)NCBI
Build 363181,814,490 - 181,879,977 (-)NCBI Archive
Celera3178,763,919 - 178,829,392 (-)RGD
HuRef3177,736,230 - 177,801,706 (-)ENTREZGENE
CHM1_13180,295,002 - 180,360,497 (-)NCBI
T2T-CHM13v2.03183,415,869 - 183,481,362 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_852091 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein BAG65133 (Get FASTA)   NCBI Sequence Viewer  
  CAB59277 (Get FASTA)   NCBI Sequence Viewer  
  Q9UFE4 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_852091   ⟸   NM_181426
- UniProtKB: B4E2H1 (UniProtKB/Swiss-Prot),   Q9UFE4 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000499175   ⟸   ENST00000651046
RefSeq Acc Id: ENSP00000418482   ⟸   ENST00000473854
RefSeq Acc Id: ENSP00000420025   ⟸   ENST00000489868
RefSeq Acc Id: ENSP00000417960   ⟸   ENST00000476379

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9UFE4-F1-model_v2 AlphaFold Q9UFE4 1-941 view protein structure

Promoters
RGD ID:6800723
Promoter ID:HG_KWN:46853
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   Lymphoblastoid
Transcripts:NM_181426
Position:
Human AssemblyChrPosition (strand)Source
Build 363181,879,871 - 181,880,422 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:25244 AgrOrtholog
COSMIC CCDC39 COSMIC
Ensembl Genes ENSG00000145075 Ensembl
  ENSG00000284862 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000417960 ENTREZGENE
  ENSP00000417960.2 UniProtKB/Swiss-Prot
  ENSP00000418482.1 UniProtKB/TrEMBL
  ENSP00000420025.1 UniProtKB/TrEMBL
  ENSP00000499175.1 UniProtKB/TrEMBL
Ensembl Transcript ENST00000473854.5 UniProtKB/TrEMBL
  ENST00000476379 ENTREZGENE
  ENST00000476379.6 UniProtKB/Swiss-Prot
  ENST00000489868.6 UniProtKB/TrEMBL
  ENST00000651046.1 UniProtKB/TrEMBL
GTEx ENSG00000145075 GTEx
  ENSG00000284862 GTEx
HGNC ID HGNC:25244 ENTREZGENE
Human Proteome Map CCDC39 Human Proteome Map
InterPro CCDC39 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:339829 UniProtKB/Swiss-Prot
NCBI Gene 339829 ENTREZGENE
OMIM 613798 OMIM
PANTHER COILED-COIL DOMAIN-CONTAINING PROTEIN 39 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR18962 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA142672194 PharmGKB
UniProt A0A494C1Q3_HUMAN UniProtKB/TrEMBL
  B4E2H1 ENTREZGENE
  CCD39_HUMAN UniProtKB/Swiss-Prot
  H7C4X6_HUMAN UniProtKB/TrEMBL
  H7C5I6_HUMAN UniProtKB/TrEMBL
  Q9UFE4 ENTREZGENE
UniProt Secondary B4E2H1 UniProtKB/Swiss-Prot