CEP78 (centrosomal protein 78) - 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 Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) 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)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease 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 Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes 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 Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Gene: CEP78 (centrosomal protein 78) Homo sapiens
Analyze
Symbol: CEP78
Name: centrosomal protein 78
RGD ID: 1346976
HGNC Page HGNC:25740
Description: Involved in cilium organization. Located in centrosome and ciliary basal body.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: C9orf81; centrosomal protein 78kDa; centrosomal protein of 78 kDa; CRDHL; FLJ12643; FLJ52093; IP63; MGC135040
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38978,236,075 - 78,279,690 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl978,236,062 - 78,279,690 (+)EnsemblGRCh38hg38GRCh38
GRCh37980,850,991 - 80,894,606 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36980,040,811 - 80,071,803 (+)NCBINCBI36Build 36hg18NCBI36
Celera951,428,255 - 51,459,253 (+)NCBICelera
Cytogenetic Map9q21.2NCBI
HuRef950,682,081 - 50,713,077 (+)NCBIHuRef
CHM1_1980,998,372 - 81,029,632 (+)NCBICHM1_1
T2T-CHM13v2.0990,393,203 - 90,436,832 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
centriole  (IEA)
centrosome  (IBA,IDA,IEA)
ciliary basal body  (IDA)
cilium  (IEA)
cytoplasm  (IEA)
cytoskeleton  (IEA)
cytosol  (TAS)

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
2. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, etal., Proc Natl Acad Sci U S A. 2002 Dec 24;99(26):16899-903. Epub 2002 Dec 11.
3. Transcriptomic characteristics of bronchoalveolar lavage fluid and peripheral blood mononuclear cells in COVID-19 patients. Xiong Y, etal., Emerg Microbes Infect. 2020 Dec;9(1):761-770. doi: 10.1080/22221751.2020.1747363.
Additional References at PubMed
PMID:7790358   PMID:8889548   PMID:11076968   PMID:12221128   PMID:12852856   PMID:14654843   PMID:14702039   PMID:16341674   PMID:16344560   PMID:16462731   PMID:18654987   PMID:20360068  
PMID:20562859   PMID:21399614   PMID:21873635   PMID:22658674   PMID:23443559   PMID:24778252   PMID:24981860   PMID:25192599   PMID:25277244   PMID:26186194   PMID:26496610   PMID:26673895  
PMID:26972000   PMID:27246242   PMID:27357513   PMID:27588451   PMID:27588452   PMID:27627988   PMID:27814526   PMID:28242748   PMID:28514442   PMID:28689657   PMID:29229926   PMID:29724823  
PMID:29778605   PMID:29802200   PMID:29987050   PMID:30021884   PMID:30209976   PMID:30554943   PMID:30884127   PMID:31073040   PMID:31999394   PMID:32807901   PMID:33119552   PMID:33658012  
PMID:33660365   PMID:33961781   PMID:34223797   PMID:34259627   PMID:35240912   PMID:35271311   PMID:35379950   PMID:36206347   PMID:36232890   PMID:36244648   PMID:36398662   PMID:37689310  
PMID:38270169  


Genomics

Comparative Map Data
CEP78
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38978,236,075 - 78,279,690 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl978,236,062 - 78,279,690 (+)EnsemblGRCh38hg38GRCh38
GRCh37980,850,991 - 80,894,606 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36980,040,811 - 80,071,803 (+)NCBINCBI36Build 36hg18NCBI36
Celera951,428,255 - 51,459,253 (+)NCBICelera
Cytogenetic Map9q21.2NCBI
HuRef950,682,081 - 50,713,077 (+)NCBIHuRef
CHM1_1980,998,372 - 81,029,632 (+)NCBICHM1_1
T2T-CHM13v2.0990,393,203 - 90,436,832 (+)NCBIT2T-CHM13v2.0
Cep78
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391915,933,134 - 15,962,396 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1915,933,137 - 15,962,353 (-)EnsemblGRCm39 Ensembl
GRCm381915,955,768 - 15,985,700 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1915,955,773 - 15,984,989 (-)EnsemblGRCm38mm10GRCm38
MGSCv371916,030,263 - 16,059,479 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361916,022,792 - 16,052,008 (-)NCBIMGSCv36mm8
Celera1916,608,800 - 16,638,017 (-)NCBICelera
Cytogenetic Map19ANCBI
cM Map1910.89NCBI
Cep78
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81222,674,193 - 222,702,124 (-)NCBIGRCr8
mRatBN7.21213,246,183 - 213,275,275 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1213,246,187 - 213,275,181 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1221,582,042 - 221,607,150 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01228,511,246 - 228,539,013 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01221,336,597 - 221,361,705 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01233,185,815 - 233,214,876 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1233,186,989 - 233,214,758 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01240,302,158 - 240,331,192 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41219,319,422 - 219,348,011 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11219,483,445 - 219,511,822 (-)NCBI
Celera1210,585,512 - 210,613,153 (-)NCBICelera
Cytogenetic Map1q43NCBI
Cep78
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555121,180,722 - 1,222,186 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049555121,184,521 - 1,222,143 (-)NCBIChiLan1.0ChiLan1.0
CEP78
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21177,395,046 - 77,437,710 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1977,394,248 - 77,443,652 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0946,576,161 - 46,612,342 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1977,086,877 - 77,122,288 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl977,086,877 - 77,121,459 (+)Ensemblpanpan1.1panPan2
CEP78
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1180,437,902 - 80,469,383 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl180,438,695 - 80,469,350 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha180,900,240 - 80,933,293 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0180,848,847 - 80,881,913 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl180,849,188 - 80,881,889 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1180,634,652 - 80,667,700 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0180,355,900 - 80,388,948 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0181,086,218 - 81,119,486 (-)NCBIUU_Cfam_GSD_1.0
Cep78
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404947127,625,045 - 127,648,068 (-)NCBIHiC_Itri_2
SpeTri2.0NW_00493650313,524,981 - 13,537,449 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CEP78
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1231,081,196 - 231,115,940 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11231,081,157 - 231,113,065 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21257,749,180 - 257,780,455 (+)NCBISscrofa10.2Sscrofa10.2susScr3
CEP78
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11289,158,537 - 89,210,244 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1289,158,676 - 89,188,645 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603877,499,920 - 77,550,564 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Cep78
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248115,658,322 - 5,698,770 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248115,658,299 - 5,698,802 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in CEP78
486 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000050348] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9q21.13-21.31(chr9:73706686-80370629)x1 copy number loss See cases [RCV000052907] Chr9:73706686..80370629 [GRCh38]
Chr9:76321602..82985544 [GRCh37]
Chr9:75511422..82175364 [NCBI36]
Chr9:9q21.13-21.31		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3 copy number gain See cases [RCV000053746] Chr9:193412..138114463 [GRCh38]
Chr9:214367..141008915 [GRCh37]
Chr9:204367..140128736 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|See cases [RCV000053748] Chr9:193412..138179445 [GRCh38]
Chr9:266045..141073897 [GRCh37]
Chr9:256045..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124532)x3 copy number gain See cases [RCV000053745] Chr9:193412..138124532 [GRCh38]
Chr9:204193..141018984 [GRCh37]
Chr9:194193..140138805 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
NM_001330691.3(CEP78):c.253+8G>A single nucleotide variant not provided [RCV001509911]|not specified [RCV000602805] Chr9:78236611 [GRCh38]
Chr9:80851527 [GRCh37]
Chr9:9q21.2		 benign
GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445) copy number gain See cases [RCV000133791] Chr9:204193..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9q21.11-31.2(chr9:68420430-106579493)x3 copy number gain See cases [RCV000136788] Chr9:68420430..106579493 [GRCh38]
Chr9:71130848..109341774 [GRCh37]
Chr9:70225166..108381595 [NCBI36]
Chr9:9q21.11-31.2		 pathogenic
GRCh38/hg38 9q21.11-21.32(chr9:68499530-83670227)x1 copy number loss See cases [RCV000137963] Chr9:68499530..83670227 [GRCh38]
Chr9:71130848..86285142 [GRCh37]
Chr9:70304266..85474962 [NCBI36]
Chr9:9q21.11-21.32		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3 copy number gain See cases [RCV000138783] Chr9:193412..138124524 [GRCh38]
Chr9:204090..141018976 [GRCh37]
Chr9:194090..140138797 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000138962] Chr9:193412..138159073 [GRCh38]
Chr9:204104..141053525 [GRCh37]
Chr9:194104..140173346 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic|conflicting data from submitters
GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000139207] Chr9:193412..138159073 [GRCh38]
Chr9:68420641..141053525 [GRCh37]
Chr9:67910461..140173346 [NCBI36]
Chr9:9p11.2-q34.3		 pathogenic
GRCh38/hg38 9q21.12-31.3(chr9:69627642-111454304)x3 copy number gain See cases [RCV000139789] Chr9:69627642..111454304 [GRCh38]
Chr9:72242558..114216584 [GRCh37]
Chr9:71432378..113256405 [NCBI36]
Chr9:9q21.12-31.3		 pathogenic
GRCh38/hg38 9q21.2(chr9:77531690-78300187)x1 copy number loss See cases [RCV000140595] Chr9:77531690..78300187 [GRCh38]
Chr9:80146606..80915103 [GRCh37]
Chr9:79336426..80104923 [NCBI36]
Chr9:9q21.2		 likely pathogenic
GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4 copy number gain See cases [RCV000141904] Chr9:203861..88130444 [GRCh38]
Chr9:203861..90745359 [GRCh37]
Chr9:193861..89935179 [NCBI36]
Chr9:9p24.3-q22.1		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3 copy number gain See cases [RCV000141876] Chr9:203861..138125937 [GRCh38]
Chr9:203861..141020389 [GRCh37]
Chr9:193861..140140210 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q21.31(chr9:193412-79877816)x3 copy number gain See cases [RCV000143012] Chr9:193412..79877816 [GRCh38]
Chr9:204104..82492731 [GRCh37]
Chr9:194104..81682551 [NCBI36]
Chr9:9p24.3-q21.31		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3 copy number gain See cases [RCV000143476] Chr9:203862..138125937 [GRCh38]
Chr9:203862..141020389 [GRCh37]
Chr9:193862..140140210 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000148113] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3 copy number gain See cases [RCV000240081] Chr9:163131..141122114 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
NM_001330691.3(CEP78):c.1542C>T (p.Ile514=) single nucleotide variant not provided [RCV001515730]|not specified [RCV000605420] Chr9:78264233 [GRCh38]
Chr9:80879149 [GRCh37]
Chr9:9q21.2		 benign
NM_001330691.3(CEP78):c.499+5G>A single nucleotide variant Cone-rod dystrophy and hearing loss 1 [RCV000412541] Chr9:78240369 [GRCh38]
Chr9:80855285 [GRCh37]
Chr9:9q21.2		 pathogenic
NM_001330691.3(CEP78):c.1251+5G>A single nucleotide variant Cone-rod dystrophy and hearing loss 1 [RCV000412542]|not provided [RCV001861409] Chr9:78253282 [GRCh38]
Chr9:80868198 [GRCh37]
Chr9:9q21.2		 pathogenic
NM_001330691.3(CEP78):c.499+1G>T single nucleotide variant Cone-rod dystrophy and hearing loss 1 [RCV000412585] Chr9:78240365 [GRCh38]
Chr9:80855281 [GRCh37]
Chr9:9q21.2		 pathogenic
NM_001330691.3(CEP78):c.893-1G>A single nucleotide variant Cone-rod dystrophy and hearing loss 1 [RCV000412597]|Sensorineural hearing loss disorder [RCV001002940] Chr9:78248290 [GRCh38]
Chr9:80863206 [GRCh37]
Chr9:9q21.2		 pathogenic
NM_001330691.3(CEP78):c.1626-2A>G single nucleotide variant Cone-rod dystrophy and hearing loss 1 [RCV000412602] Chr9:78265370 [GRCh38]
Chr9:80880286 [GRCh37]
Chr9:9q21.2		 pathogenic
NM_001330691.3(CEP78):c.633del (p.Trp212fs) deletion Cone-rod dystrophy and hearing loss 1 [RCV000412668] Chr9:78243490 [GRCh38]
Chr9:80858406 [GRCh37]
Chr9:9q21.2		 pathogenic
NM_001330691.3(CEP78):c.534del (p.Lys179fs) deletion Cone-rod dystrophy and hearing loss 1 [RCV000412648]|Sensorineural hearing loss disorder [RCV001002939]|not provided [RCV001211520] Chr9:78241729 [GRCh38]
Chr9:80856645 [GRCh37]
Chr9:9q21.2		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407) copy number gain See cases [RCV000449375] Chr9:62525..141006407 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3 copy number gain not specified [RCV003986800] Chr9:203861..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9q21.2(chr9:80756063-80906810)x1 copy number loss See cases [RCV000447381] Chr9:80756063..80906810 [GRCh37]
Chr9:9q21.2		 uncertain significance
GRCh37/hg19 9q21.2(chr9:80833575-80973771)x3 copy number gain See cases [RCV000447807] Chr9:80833575..80973771 [GRCh37]
Chr9:9q21.2		 uncertain significance
GRCh37/hg19 9p24.3-q34.3(chr9:203864-141020389)x3 copy number gain See cases [RCV000448978] Chr9:203864..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9q21.2(chr9:80850226-80880439)x3 copy number gain See cases [RCV000448593] Chr9:80850226..80880439 [GRCh37]
Chr9:9q21.2		 likely benign
GRCh37/hg19 9q21.11-21.31(chr9:68734571-83557267)x3 copy number gain See cases [RCV000510725] Chr9:68734571..83557267 [GRCh37]
Chr9:9q21.11-21.31		 pathogenic
NM_001330691.3(CEP78):c.1057A>G (p.Thr353Ala) single nucleotide variant Inborn genetic diseases [RCV003247384] Chr9:78248861 [GRCh38]
Chr9:80863777 [GRCh37]
Chr9:9q21.2		 uncertain significance
GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928) copy number gain Global developmental delay [RCV000626548] Chr9:71069743..140999928 [GRCh37]
Chr9:9q21.11-34.3		 likely pathogenic
NM_001330691.3(CEP78):c.84G>C (p.Ser28=) single nucleotide variant not provided [RCV001509910]|not specified [RCV000616408] Chr9:78236434 [GRCh38]
Chr9:80851350 [GRCh37]
Chr9:9q21.2		 benign
NM_001330691.3(CEP78):c.604-6T>G single nucleotide variant not provided [RCV000961936]|not specified [RCV000608477] Chr9:78243456 [GRCh38]
Chr9:80858372 [GRCh37]
Chr9:9q21.2		 benign
NM_001330691.3(CEP78):c.955G>C (p.Glu319Gln) single nucleotide variant Cone-rod dystrophy and hearing loss 1 [RCV002476372]|not provided [RCV000881434]|not specified [RCV000608931] Chr9:78248353 [GRCh38]
Chr9:80863269 [GRCh37]
Chr9:9q21.2		 benign
NM_001330691.3(CEP78):c.2007T>C (p.Cys669=) single nucleotide variant not provided [RCV000956725]|not specified [RCV000609213] Chr9:78266603 [GRCh38]
Chr9:80881519 [GRCh37]
Chr9:9q21.2		 benign
GRCh37/hg19 9q21.11-22.1(chr9:70966262-90761254)x4 copy number gain See cases [RCV000512280] Chr9:70966262..90761254 [GRCh37]
Chr9:9q21.11-22.1		 pathogenic
GRCh37/hg19 9p24.3-q21.33(chr9:203861-88189913)x3 copy number gain See cases [RCV000512431] Chr9:203861..88189913 [GRCh37]
Chr9:9p24.3-q21.33		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389) copy number gain See cases [RCV000512392] Chr9:203862..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9q21.11-21.32(chr9:68999534-84656998)x1 copy number loss not provided [RCV000683169] Chr9:68999534..84656998 [GRCh37]
Chr9:9q21.11-21.32		 pathogenic
GRCh37/hg19 9q21.13-21.31(chr9:74534790-84014155)x1 copy number loss not provided [RCV000683165] Chr9:74534790..84014155 [GRCh37]
Chr9:9q21.13-21.31		 pathogenic
46,XX,der(9)(q21.2,q21.2).seq[GRCh37/hg19]der(9)(9pter->9q21.2(+)(8084369{7-8})::q21.2(-)(808497{60-59}),q21.2(-)(8084946{5-3})::q21.2(+)(808596{79-81}->9qter) complex Cone-rod dystrophy and hearing loss 1 [RCV000714959] Chr9:80843698..80859679 [GRCh37]
Chr9:9q21.2		 pathogenic
Single allele complex Glioma [RCV000754871] Chr9:23524426..87359888 [GRCh37]
Chr9:9p21.3-q21.33		 likely pathogenic
GRCh37/hg19 9q21.11-21.31(chr9:68838523-83340723)x1 copy number loss not provided [RCV000748447] Chr9:68838523..83340723 [GRCh37]
Chr9:9q21.11-21.31		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141122247)x3 copy number gain not provided [RCV000748055] Chr9:10590..141122247 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141107672)x3 copy number gain not provided [RCV000748053] Chr9:10590..141107672 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:46587-141066491)x3 copy number gain not provided [RCV000748063] Chr9:46587..141066491 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141114095)x2 copy number gain not provided [RCV000748054] Chr9:10590..141114095 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
NC_000009.12:g.78235830C>T single nucleotide variant not provided [RCV001648117] Chr9:78235830 [GRCh38]
Chr9:80850746 [GRCh37]
Chr9:9q21.2		 benign
NM_001330691.3(CEP78):c.1069+196T>C single nucleotide variant not provided [RCV001645849] Chr9:78249069 [GRCh38]
Chr9:80863985 [GRCh37]
Chr9:9q21.2		 benign
NM_001330691.3(CEP78):c.603+237A>G single nucleotide variant not provided [RCV001667244] Chr9:78242036 [GRCh38]
Chr9:80856952 [GRCh37]
Chr9:9q21.2		 benign
NM_001330691.3(CEP78):c.139G>A (p.Ala47Thr) single nucleotide variant Inborn genetic diseases [RCV002553875]|not provided [RCV001059914] Chr9:78236489 [GRCh38]
Chr9:80851405 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.1254A>G (p.Gln418=) single nucleotide variant not provided [RCV001060813] Chr9:78254838 [GRCh38]
Chr9:80869754 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.1221C>G (p.Ile407Met) single nucleotide variant not provided [RCV001053790] Chr9:78253247 [GRCh38]
Chr9:80868163 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.1465C>T (p.His489Tyr) single nucleotide variant not provided [RCV001057460] Chr9:78264156 [GRCh38]
Chr9:80879072 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.1070-5A>G single nucleotide variant not provided [RCV000999174] Chr9:78251903 [GRCh38]
Chr9:80866819 [GRCh37]
Chr9:9q21.2		 likely pathogenic
NM_001330691.3(CEP78):c.35C>T (p.Ala12Val) single nucleotide variant not provided [RCV000906004]|not specified [RCV001726368] Chr9:78236385 [GRCh38]
Chr9:80851301 [GRCh37]
Chr9:9q21.2		 benign
NM_001330691.3(CEP78):c.798C>T (p.Cys266=) single nucleotide variant not provided [RCV000970685] Chr9:78246688 [GRCh38]
Chr9:80861604 [GRCh37]
Chr9:9q21.2		 benign|likely benign
GRCh37/hg19 9q21.2(chr9:80699858-80890936)x1 copy number loss not provided [RCV001006241] Chr9:80699858..80890936 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.1330A>G (p.Ser444Gly) single nucleotide variant not provided [RCV001064407] Chr9:78254914 [GRCh38]
Chr9:80869830 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.2012C>T (p.Pro671Leu) single nucleotide variant not provided [RCV001046485] Chr9:78266608 [GRCh38]
Chr9:80881524 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.359G>T (p.Ser120Ile) single nucleotide variant not provided [RCV001042275] Chr9:78240128 [GRCh38]
Chr9:80855044 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.440C>T (p.Ser147Leu) single nucleotide variant not provided [RCV001047081] Chr9:78240305 [GRCh38]
Chr9:80855221 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.62_64dup (p.Tyr21_Leu22insHis) duplication Retinal dystrophy [RCV001073855] Chr9:78236411..78236412 [GRCh38]
Chr9:80851327..80851328 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.1417G>T (p.Glu473Ter) single nucleotide variant Retinal dystrophy [RCV001073858] Chr9:78262943 [GRCh38]
Chr9:80877859 [GRCh37]
Chr9:9q21.2		 likely pathogenic
NM_001330691.3(CEP78):c.254-1G>T single nucleotide variant Retinal dystrophy [RCV001073973]|not provided [RCV001862528] Chr9:78240022 [GRCh38]
Chr9:80854938 [GRCh37]
Chr9:9q21.2		 likely pathogenic
NM_001330691.3(CEP78):c.323T>G (p.Leu108Trp) single nucleotide variant Retinal dystrophy [RCV001073975]|not provided [RCV001862529] Chr9:78240092 [GRCh38]
Chr9:80855008 [GRCh37]
Chr9:9q21.2		 likely pathogenic|uncertain significance
NM_001330691.3(CEP78):c.120G>C (p.Glu40Asp) single nucleotide variant not provided [RCV001306515]|not specified [RCV000825725] Chr9:78236470 [GRCh38]
Chr9:80851386 [GRCh37]
Chr9:9q21.2		 likely benign|uncertain significance
NM_001330691.3(CEP78):c.2107+10C>G single nucleotide variant not provided [RCV002536060]|not specified [RCV000825726] Chr9:78266713 [GRCh38]
Chr9:80881629 [GRCh37]
Chr9:9q21.2		 likely benign|uncertain significance
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3 copy number gain not provided [RCV000845900] Chr9:203861..141020388 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
NM_001330691.3(CEP78):c.1845+7G>A single nucleotide variant not provided [RCV000916625] Chr9:78265913 [GRCh38]
Chr9:80880829 [GRCh37]
Chr9:9q21.2		 likely benign
NM_001330691.3(CEP78):c.1626-6dup duplication not provided [RCV001517723]|not specified [RCV000825664] Chr9:78265365..78265366 [GRCh38]
Chr9:80880281..80880282 [GRCh37]
Chr9:9q21.2		 benign
NM_001330691.3(CEP78):c.1797+5A>G single nucleotide variant not provided [RCV001041904]|not specified [RCV000825890] Chr9:78265548 [GRCh38]
Chr9:80880464 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.1214C>T (p.Pro405Leu) single nucleotide variant not provided [RCV001230773]|not specified [RCV000825892] Chr9:78253240 [GRCh38]
Chr9:80868156 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.1194A>G (p.Ala398=) single nucleotide variant not provided [RCV001519225]|not specified [RCV000825724] Chr9:78252032 [GRCh38]
Chr9:80866948 [GRCh37]
Chr9:9q21.2		 benign|likely benign
NM_001330691.3(CEP78):c.491G>A (p.Gly164Asp) single nucleotide variant not provided [RCV001047659]|not specified [RCV000825893] Chr9:78240356 [GRCh38]
Chr9:80855272 [GRCh37]
Chr9:9q21.2		 likely pathogenic|uncertain significance
NM_001330691.3(CEP78):c.401_404del (p.Glu134fs) microsatellite not provided [RCV000999173] Chr9:78240165..78240168 [GRCh38]
Chr9:80855081..80855084 [GRCh37]
Chr9:9q21.2		 likely pathogenic
NM_001330691.3(CEP78):c.1788A>G (p.Gln596=) single nucleotide variant not provided [RCV000968645]|not specified [RCV000825662] Chr9:78265534 [GRCh38]
Chr9:80880450 [GRCh37]
Chr9:9q21.2		 benign
GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3 copy number gain not provided [RCV000847808] Chr9:71416475..141020389 [GRCh37]
Chr9:9q21.11-34.3		 pathogenic
NM_001330691.3(CEP78):c.1566C>T (p.Gly522=) single nucleotide variant CEP78-related condition [RCV003938178]|Cone-rod dystrophy and hearing loss 1 [RCV002478935]|not provided [RCV000884966]|not specified [RCV000825660] Chr9:78264257 [GRCh38]
Chr9:80879173 [GRCh37]
Chr9:9q21.2		 benign|likely benign
NM_001330691.3(CEP78):c.2077A>C (p.Arg693=) single nucleotide variant not provided [RCV001522727]|not specified [RCV000825663] Chr9:78266673 [GRCh38]
Chr9:80881589 [GRCh37]
Chr9:9q21.2		 benign
NM_001330691.3(CEP78):c.1273G>C (p.Val425Leu) single nucleotide variant Inborn genetic diseases [RCV004029189]|not provided [RCV001231020]|not specified [RCV000825727] Chr9:78254857 [GRCh38]
Chr9:80869773 [GRCh37]
Chr9:9q21.2		 likely benign|uncertain significance
NM_001330691.3(CEP78):c.103C>T (p.Arg35Cys) single nucleotide variant CEP78-related condition [RCV003965609]|not provided [RCV000880624]|not specified [RCV000825728] Chr9:78236453 [GRCh38]
Chr9:80851369 [GRCh37]
Chr9:9q21.2		 likely benign
NM_001330691.3(CEP78):c.1846-1G>C single nucleotide variant CEP78-related condition [RCV003955539]|Cone-rod dystrophy and hearing loss 1 [RCV003492181]|not provided [RCV000969851]|not specified [RCV000825891] Chr9:78266441 [GRCh38]
Chr9:80881357 [GRCh37]
Chr9:9q21.2		 pathogenic|likely benign|uncertain significance
NM_001330691.3(CEP78):c.1780C>A (p.Gln594Lys) single nucleotide variant CEP78-related condition [RCV003928294]|not provided [RCV000888800]|not specified [RCV000825661] Chr9:78265526 [GRCh38]
Chr9:80880442 [GRCh37]
Chr9:9q21.2		 benign|likely benign
NM_001330691.3(CEP78):c.898T>C (p.Ser300Pro) single nucleotide variant CEP78-related condition [RCV003908118]|not provided [RCV000959010]|not specified [RCV000825723] Chr9:78248296 [GRCh38]
Chr9:80863212 [GRCh37]
Chr9:9q21.2		 likely benign
NM_001330691.3(CEP78):c.901A>G (p.Met301Val) single nucleotide variant Cone-rod dystrophy and hearing loss 1 [RCV001332806]|not provided [RCV001055408] Chr9:78248299 [GRCh38]
Chr9:80863215 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.1915_1916insGGG (p.Pro639delinsArgAla) insertion Cone-rod dystrophy and hearing loss 1 [RCV002481970]|not provided [RCV001052763] Chr9:78266511..78266512 [GRCh38]
Chr9:80881427..80881428 [GRCh37]
Chr9:9q21.2		 uncertain significance
GRCh37/hg19 9q21.11-21.31(chr9:70974661-81829792)x1 copy number loss not provided [RCV000846367] Chr9:70974661..81829792 [GRCh37]
Chr9:9q21.11-21.31		 pathogenic
GRCh37/hg19 9q21.13-21.31(chr9:78672613-83349616)x1 copy number loss not provided [RCV000848555] Chr9:78672613..83349616 [GRCh37]
Chr9:9q21.13-21.31		 uncertain significance
NM_001330691.3(CEP78):c.1145T>C (p.Leu382Pro) single nucleotide variant not provided [RCV001054258] Chr9:78251983 [GRCh38]
Chr9:80866899 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.574G>A (p.Gly192Arg) single nucleotide variant not provided [RCV001055919] Chr9:78241770 [GRCh38]
Chr9:80856686 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.485A>G (p.Asp162Gly) single nucleotide variant not specified [RCV001195598] Chr9:78240350 [GRCh38]
Chr9:80855266 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.1206G>T (p.Arg402Ser) single nucleotide variant not provided [RCV001236780] Chr9:78253232 [GRCh38]
Chr9:80868148 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.1138G>A (p.Ala380Thr) single nucleotide variant not provided [RCV001208761] Chr9:78251976 [GRCh38]
Chr9:80866892 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.1396T>C (p.Cys466Arg) single nucleotide variant not provided [RCV001227320] Chr9:78262922 [GRCh38]
Chr9:80877838 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.2107+40G>A single nucleotide variant not provided [RCV001234342] Chr9:78266743 [GRCh38]
Chr9:80881659 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.293C>G (p.Ala98Gly) single nucleotide variant not provided [RCV001226414] Chr9:78240062 [GRCh38]
Chr9:80854978 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.957+5A>G single nucleotide variant not provided [RCV001240937] Chr9:78248360 [GRCh38]
Chr9:80863276 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.142G>A (p.Asp48Asn) single nucleotide variant not provided [RCV001237481] Chr9:78236492 [GRCh38]
Chr9:80851408 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.1228C>T (p.Arg410Cys) single nucleotide variant not provided [RCV001227474] Chr9:78253254 [GRCh38]
Chr9:80868170 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.1097G>C (p.Ser366Thr) single nucleotide variant not provided [RCV001242287] Chr9:78251935 [GRCh38]
Chr9:80866851 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.283C>T (p.Arg95Cys) single nucleotide variant Inborn genetic diseases [RCV003270769] Chr9:78240052 [GRCh38]
Chr9:80854968 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.893-3T>G single nucleotide variant not provided [RCV001052932] Chr9:78248288 [GRCh38]
Chr9:80863204 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.603+194A>G single nucleotide variant not provided [RCV001619032] Chr9:78241993 [GRCh38]
Chr9:80856909 [GRCh37]
Chr9:9q21.2		 benign
NM_001330691.3(CEP78):c.1459-61A>T single nucleotide variant not provided [RCV001695843] Chr9:78264089 [GRCh38]
Chr9:80879005 [GRCh37]
Chr9:9q21.2		 benign
NM_001330691.3(CEP78):c.1070-174T>C single nucleotide variant not provided [RCV001638373] Chr9:78251734 [GRCh38]
Chr9:80866650 [GRCh37]
Chr9:9q21.2		 benign
NM_001330691.3(CEP78):c.778+196dup duplication not provided [RCV001615595] Chr9:78243819..78243820 [GRCh38]
Chr9:80858735..80858736 [GRCh37]
Chr9:9q21.2		 benign
NM_001330691.3(CEP78):c.411A>G (p.Leu137=) single nucleotide variant not provided [RCV000930725] Chr9:78240180 [GRCh38]
Chr9:80855096 [GRCh37]
Chr9:9q21.2		 benign
NM_001330691.3(CEP78):c.912A>G (p.Ala304=) single nucleotide variant not provided [RCV000977728] Chr9:78248310 [GRCh38]
Chr9:80863226 [GRCh37]
Chr9:9q21.2		 likely benign
NM_001330691.3(CEP78):c.604-8C>A single nucleotide variant not provided [RCV001231473] Chr9:78243454 [GRCh38]
Chr9:80858370 [GRCh37]
Chr9:9q21.2		 likely benign|uncertain significance
NM_001330691.3(CEP78):c.1586A>C (p.Gln529Pro) single nucleotide variant not provided [RCV001241924] Chr9:78264277 [GRCh38]
Chr9:80879193 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.309T>A (p.Asp103Glu) single nucleotide variant not provided [RCV001201418] Chr9:78240078 [GRCh38]
Chr9:80854994 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.1393G>A (p.Glu465Lys) single nucleotide variant not provided [RCV001242191] Chr9:78262919 [GRCh38]
Chr9:80877835 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.1026A>G (p.Ile342Met) single nucleotide variant not provided [RCV001244456] Chr9:78248830 [GRCh38]
Chr9:80863746 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.971C>G (p.Thr324Ser) single nucleotide variant not provided [RCV001067864] Chr9:78248775 [GRCh38]
Chr9:80863691 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.1380G>C (p.Gln460His) single nucleotide variant not provided [RCV001242881] Chr9:78254964 [GRCh38]
Chr9:80869880 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.283dup (p.Arg95fs) duplication not provided [RCV001207980] Chr9:78240051..78240052 [GRCh38]
Chr9:80854967..80854968 [GRCh37]
Chr9:9q21.2		 pathogenic
NM_001330691.3(CEP78):c.1943A>C (p.Asn648Thr) single nucleotide variant not provided [RCV001242989] Chr9:78266539 [GRCh38]
Chr9:80881455 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.957G>A (p.Glu319=) single nucleotide variant not provided [RCV001243061] Chr9:78248355 [GRCh38]
Chr9:80863271 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.1951G>A (p.Val651Ile) single nucleotide variant not provided [RCV001208273] Chr9:78266547 [GRCh38]
Chr9:80881463 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.1999A>G (p.Arg667Gly) single nucleotide variant not provided [RCV001227798] Chr9:78266595 [GRCh38]
Chr9:80881511 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.614T>C (p.Met205Thr) single nucleotide variant Inborn genetic diseases [RCV002553301]|not provided [RCV001052937] Chr9:78243472 [GRCh38]
Chr9:80858388 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.691C>T (p.Arg231Cys) single nucleotide variant not provided [RCV001064505] Chr9:78243549 [GRCh38]
Chr9:80858465 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.2107+1G>A single nucleotide variant not provided [RCV001064826] Chr9:78266704 [GRCh38]
Chr9:80881620 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.199G>A (p.Asp67Asn) single nucleotide variant not provided [RCV001238011] Chr9:78236549 [GRCh38]
Chr9:80851465 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.151C>A (p.Arg51Ser) single nucleotide variant not provided [RCV001060315] Chr9:78236501 [GRCh38]
Chr9:80851417 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.1251+7A>G single nucleotide variant not provided [RCV000934142] Chr9:78253284 [GRCh38]
Chr9:80868200 [GRCh37]
Chr9:9q21.2		 likely benign
NM_001330691.3(CEP78):c.1651G>A (p.Gly551Arg) single nucleotide variant not provided [RCV001055251] Chr9:78265397 [GRCh38]
Chr9:80880313 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.253+214A>G single nucleotide variant not provided [RCV001637382] Chr9:78236817 [GRCh38]
Chr9:80851733 [GRCh37]
Chr9:9q21.2		 benign
NM_001330691.3(CEP78):c.1251+161G>T single nucleotide variant not provided [RCV001617076] Chr9:78253438 [GRCh38]
Chr9:80868354 [GRCh37]
Chr9:9q21.2		 benign
NM_001330691.3(CEP78):c.1458+150A>G single nucleotide variant not provided [RCV001595645] Chr9:78263134 [GRCh38]
Chr9:80878050 [GRCh37]
Chr9:9q21.2		 benign
NM_001330691.3(CEP78):c.1845+45A>C single nucleotide variant not provided [RCV001676667] Chr9:78265951 [GRCh38]
Chr9:80880867 [GRCh37]
Chr9:9q21.2		 benign
NM_001330691.3(CEP78):c.-124C>T single nucleotide variant not provided [RCV001667785] Chr9:78236227 [GRCh38]
Chr9:80851143 [GRCh37]
Chr9:9q21.2		 benign
NM_001330691.3(CEP78):c.1206-117T>C single nucleotide variant not provided [RCV001613813] Chr9:78253115 [GRCh38]
Chr9:80868031 [GRCh37]
Chr9:9q21.2		 benign
NM_001330691.3(CEP78):c.778+196del deletion not provided [RCV001695992] Chr9:78243820 [GRCh38]
Chr9:80858736 [GRCh37]
Chr9:9q21.2		 benign
NM_001330691.3(CEP78):c.1189C>T (p.Arg397Cys) single nucleotide variant not provided [RCV001067533] Chr9:78252027 [GRCh38]
Chr9:80866943 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.1381-46C>T single nucleotide variant not provided [RCV001693338] Chr9:78262861 [GRCh38]
Chr9:80877777 [GRCh37]
Chr9:9q21.2		 benign
NM_001330691.3(CEP78):c.778+1G>A single nucleotide variant Retinal dystrophy [RCV001075680]|not provided [RCV001038860] Chr9:78243637 [GRCh38]
Chr9:80858553 [GRCh37]
Chr9:9q21.2		 likely pathogenic
NM_001330691.3(CEP78):c.966G>A (p.Trp322Ter) single nucleotide variant not provided [RCV001543509] Chr9:78248770 [GRCh38]
Chr9:80863686 [GRCh37]
Chr9:9q21.2		 pathogenic|likely pathogenic
NM_001330691.3(CEP78):c.893-119G>A single nucleotide variant not provided [RCV001666989] Chr9:78248172 [GRCh38]
Chr9:80863088 [GRCh37]
Chr9:9q21.2		 benign
NM_001330691.3(CEP78):c.500-157T>G single nucleotide variant not provided [RCV001708534] Chr9:78241539 [GRCh38]
Chr9:80856455 [GRCh37]
Chr9:9q21.2		 benign
NM_001330691.3(CEP78):c.851C>G (p.Thr284Arg) single nucleotide variant not provided [RCV001069340] Chr9:78246741 [GRCh38]
Chr9:80861657 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.2107+152C>T single nucleotide variant not provided [RCV001672403] Chr9:78266855 [GRCh38]
Chr9:80881771 [GRCh37]
Chr9:9q21.2		 benign
NM_001330691.3(CEP78):c.284G>A (p.Arg95His) single nucleotide variant not provided [RCV001863088]|not specified [RCV001195599] Chr9:78240053 [GRCh38]
Chr9:80854969 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.167C>T (p.Ala56Val) single nucleotide variant not provided [RCV001206121] Chr9:78236517 [GRCh38]
Chr9:80851433 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.1601T>G (p.Phe534Cys) single nucleotide variant Cone-rod dystrophy and hearing loss 1 [RCV001196980] Chr9:78264292 [GRCh38]
Chr9:80879208 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.1400_1402delinsCTTT (p.Leu467fs) indel Cone-rod dystrophy [RCV001199658]|not provided [RCV002275201] Chr9:78262926..78262928 [GRCh38]
Chr9:80877842..80877844 [GRCh37]
Chr9:9q21.2		 pathogenic
NM_001330691.3(CEP78):c.211del (p.Val71fs) deletion Retinal dystrophy [RCV001075728] Chr9:78236560 [GRCh38]
Chr9:80851476 [GRCh37]
Chr9:9q21.2		 likely pathogenic
NM_001330691.3(CEP78):c.1424del (p.Val475fs) deletion Cone-rod dystrophy [RCV001199659]|Cone-rod dystrophy and hearing loss 1 [RCV001376466]|not provided [RCV001092272] Chr9:78262950 [GRCh38]
Chr9:80877866 [GRCh37]
Chr9:9q21.2		 pathogenic|likely pathogenic
NM_001330691.3(CEP78):c.1412A>C (p.Lys471Thr) single nucleotide variant not provided [RCV001051117] Chr9:78262938 [GRCh38]
Chr9:80877854 [GRCh37]
Chr9:9q21.2		 likely benign|uncertain significance
NM_001330691.3(CEP78):c.1383A>T (p.Glu461Asp) single nucleotide variant Inborn genetic diseases [RCV004033267]|not provided [RCV001235021] Chr9:78262909 [GRCh38]
Chr9:80877825 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.650G>A (p.Arg217His) single nucleotide variant not provided [RCV001213775] Chr9:78243508 [GRCh38]
Chr9:80858424 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.613A>G (p.Met205Val) single nucleotide variant Inborn genetic diseases [RCV004031336]|not provided [RCV001043954] Chr9:78243471 [GRCh38]
Chr9:80858387 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.293C>T (p.Ala98Val) single nucleotide variant not provided [RCV001044700] Chr9:78240062 [GRCh38]
Chr9:80854978 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.1358G>A (p.Ser453Asn) single nucleotide variant not provided [RCV001063681] Chr9:78254942 [GRCh38]
Chr9:80869858 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.1785G>C (p.Met595Ile) single nucleotide variant not provided [RCV001203856] Chr9:78265531 [GRCh38]
Chr9:80880447 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.297_298del (p.Ile99fs) deletion not provided [RCV001207981] Chr9:78240066..78240067 [GRCh38]
Chr9:80854982..80854983 [GRCh37]
Chr9:9q21.2		 pathogenic
NM_001330691.3(CEP78):c.2082TTC[1] (p.Ser696del) microsatellite not provided [RCV001219368] Chr9:78266676..78266678 [GRCh38]
Chr9:80881592..80881594 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.635G>A (p.Trp212Ter) single nucleotide variant not provided [RCV001207353] Chr9:78243493 [GRCh38]
Chr9:80858409 [GRCh37]
Chr9:9q21.2		 pathogenic
NM_001330691.3(CEP78):c.321G>C (p.Gln107His) single nucleotide variant not provided [RCV001234136] Chr9:78240090 [GRCh38]
Chr9:80855006 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.181A>T (p.Thr61Ser) single nucleotide variant not provided [RCV001066321] Chr9:78236531 [GRCh38]
Chr9:80851447 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.58G>T (p.Glu20Ter) single nucleotide variant not provided [RCV001047082] Chr9:78236408 [GRCh38]
Chr9:80851324 [GRCh37]
Chr9:9q21.2		 pathogenic
NM_001330691.3(CEP78):c.1206-2A>C single nucleotide variant Cone-rod dystrophy and hearing loss 1 [RCV001542676]|not provided [RCV001038129] Chr9:78253230 [GRCh38]
Chr9:80868146 [GRCh37]
Chr9:9q21.2		 likely pathogenic
NM_001330691.3(CEP78):c.868G>A (p.Asp290Asn) single nucleotide variant not provided [RCV001205356] Chr9:78246758 [GRCh38]
Chr9:80861674 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.76C>T (p.Gln26Ter) single nucleotide variant Retinal dystrophy [RCV001075678]|not provided [RCV002554768] Chr9:78236426 [GRCh38]
Chr9:80851342 [GRCh37]
Chr9:9q21.2		 pathogenic|likely pathogenic
NM_001330691.3(CEP78):c.1532C>G (p.Thr511Arg) single nucleotide variant not provided [RCV001203435] Chr9:78264223 [GRCh38]
Chr9:80879139 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.583C>A (p.His195Asn) single nucleotide variant not provided [RCV001246922] Chr9:78241779 [GRCh38]
Chr9:80856695 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.1286G>A (p.Ser429Asn) single nucleotide variant not provided [RCV001246255] Chr9:78254870 [GRCh38]
Chr9:80869786 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.583C>T (p.His195Tyr) single nucleotide variant not provided [RCV001304350] Chr9:78241779 [GRCh38]
Chr9:80856695 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.2026A>G (p.Thr676Ala) single nucleotide variant Inborn genetic diseases [RCV003382548]|not provided [RCV001350214] Chr9:78266622 [GRCh38]
Chr9:80881538 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.22C>T (p.Arg8Cys) single nucleotide variant Moyamoya angiopathy [RCV001261798] Chr9:78236372 [GRCh38]
Chr9:80851288 [GRCh37]
Chr9:9q21.2		 likely pathogenic
NM_001330691.3(CEP78):c.1008A>C (p.Lys336Asn) single nucleotide variant not provided [RCV001348243] Chr9:78248812 [GRCh38]
Chr9:80863728 [GRCh37]
Chr9:9q21.2		 uncertain significance
GRCh37/hg19 9p22.1-q33.1(chr9:19356861-119513311) copy number loss Distal tetrasomy 15q [RCV002280776] Chr9:19356861..119513311 [GRCh37]
Chr9:9p22.1-q33.1		 uncertain significance
NM_001330691.3(CEP78):c.2099C>A (p.Thr700Asn) single nucleotide variant not provided [RCV001889296] Chr9:78266695 [GRCh38]
Chr9:80881611 [GRCh37]
Chr9:9q21.2		 uncertain significance
GRCh37/hg19 9q21.2(chr9:80410512-80877566)x3 copy number gain not provided [RCV001258440] Chr9:80410512..80877566 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.94C>T (p.Pro32Ser) single nucleotide variant not provided [RCV001350180] Chr9:78236444 [GRCh38]
Chr9:80851360 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.157G>T (p.Val53Leu) single nucleotide variant not provided [RCV001314445] Chr9:78236507 [GRCh38]
Chr9:80851423 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.194A>G (p.Asn65Ser) single nucleotide variant not provided [RCV001301682] Chr9:78236544 [GRCh38]
Chr9:80851460 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.1835C>A (p.Thr612Lys) single nucleotide variant not provided [RCV001306097] Chr9:78265896 [GRCh38]
Chr9:80880812 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.1316A>T (p.Asp439Val) single nucleotide variant not provided [RCV001296152] Chr9:78254900 [GRCh38]
Chr9:80869816 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.466G>T (p.Ala156Ser) single nucleotide variant not provided [RCV001337170] Chr9:78240331 [GRCh38]
Chr9:80855247 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.1571T>C (p.Ile524Thr) single nucleotide variant not provided [RCV001303640] Chr9:78264262 [GRCh38]
Chr9:80879178 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.818C>T (p.Ala273Val) single nucleotide variant not provided [RCV001343690] Chr9:78246708 [GRCh38]
Chr9:80861624 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.1206-5T>C single nucleotide variant not provided [RCV001372297] Chr9:78253227 [GRCh38]
Chr9:80868143 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.1252-17T>C single nucleotide variant not provided [RCV001397408] Chr9:78254819 [GRCh38]
Chr9:80869735 [GRCh37]
Chr9:9q21.2		 likely benign
NM_001330691.3(CEP78):c.473G>T (p.Cys158Phe) single nucleotide variant not provided [RCV001367538] Chr9:78240338 [GRCh38]
Chr9:80855254 [GRCh37]
Chr9:9q21.2		 likely pathogenic|uncertain significance
NM_001330691.3(CEP78):c.1213C>T (p.Pro405Ser) single nucleotide variant not provided [RCV001361816] Chr9:78253239 [GRCh38]
Chr9:80868155 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.2107+37C>T single nucleotide variant Inborn genetic diseases [RCV002547381]|not provided [RCV001338725] Chr9:78266740 [GRCh38]
Chr9:80881656 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.1177C>T (p.Arg393Cys) single nucleotide variant not provided [RCV001359702] Chr9:78252015 [GRCh38]
Chr9:80866931 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.1845+10C>A single nucleotide variant not provided [RCV001339064] Chr9:78265916 [GRCh38]
Chr9:80880832 [GRCh37]
Chr9:9q21.2		 likely benign|uncertain significance
NM_001330691.3(CEP78):c.241C>G (p.Leu81Val) single nucleotide variant not provided [RCV001321420] Chr9:78236591 [GRCh38]
Chr9:80851507 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.799G>A (p.Gly267Ser) single nucleotide variant not provided [RCV001307295] Chr9:78246689 [GRCh38]
Chr9:80861605 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.1825A>G (p.Asn609Asp) single nucleotide variant not provided [RCV001343520] Chr9:78265886 [GRCh38]
Chr9:80880802 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.605A>G (p.Tyr202Cys) single nucleotide variant Inborn genetic diseases [RCV004035084]|not provided [RCV001322857] Chr9:78243463 [GRCh38]
Chr9:80858379 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.892+3A>C single nucleotide variant not provided [RCV001371187] Chr9:78246785 [GRCh38]
Chr9:80861701 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.2027C>G (p.Thr676Ser) single nucleotide variant not provided [RCV001362944] Chr9:78266623 [GRCh38]
Chr9:80881539 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.1491A>G (p.Ile497Met) single nucleotide variant not provided [RCV001337817] Chr9:78264182 [GRCh38]
Chr9:80879098 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.512G>T (p.Gly171Val) single nucleotide variant not provided [RCV001318670] Chr9:78241708 [GRCh38]
Chr9:80856624 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.148C>T (p.Leu50Phe) single nucleotide variant not provided [RCV001322978] Chr9:78236498 [GRCh38]
Chr9:80851414 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.2102A>G (p.Lys701Arg) single nucleotide variant not provided [RCV001309808] Chr9:78266698 [GRCh38]
Chr9:80881614 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.988G>A (p.Glu330Lys) single nucleotide variant not provided [RCV001346909] Chr9:78248792 [GRCh38]
Chr9:80863708 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.2066C>G (p.Ser689Cys) single nucleotide variant not provided [RCV001346910] Chr9:78266662 [GRCh38]
Chr9:80881578 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.254G>A (p.Gly85Asp) single nucleotide variant not provided [RCV001302043] Chr9:78240023 [GRCh38]
Chr9:80854939 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.1070-1G>A single nucleotide variant not provided [RCV001347290] Chr9:78251907 [GRCh38]
Chr9:80866823 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.116G>C (p.Arg39Pro) single nucleotide variant Inborn genetic diseases [RCV002543841]|not provided [RCV001322358] Chr9:78236466 [GRCh38]
Chr9:80851382 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.920A>G (p.Lys307Arg) single nucleotide variant not provided [RCV001324882] Chr9:78248318 [GRCh38]
Chr9:80863234 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.222G>C (p.Lys74Asn) single nucleotide variant not provided [RCV001370701] Chr9:78236572 [GRCh38]
Chr9:80851488 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.122G>C (p.Gly41Ala) single nucleotide variant not provided [RCV001299542] Chr9:78236472 [GRCh38]
Chr9:80851388 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.862G>A (p.Val288Ile) single nucleotide variant Inborn genetic diseases [RCV002550167]|not provided [RCV001373079] Chr9:78246752 [GRCh38]
Chr9:80861668 [GRCh37]
Chr9:9q21.2		 likely benign|uncertain significance
NM_001330691.3(CEP78):c.778+3A>G single nucleotide variant not provided [RCV001373180] Chr9:78243639 [GRCh38]
Chr9:80858555 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.1133C>T (p.Ala378Val) single nucleotide variant Inborn genetic diseases [RCV002548024]|not provided [RCV001907565] Chr9:78251971 [GRCh38]
Chr9:80866887 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.795G>C (p.Gln265His) single nucleotide variant not provided [RCV001364278] Chr9:78246685 [GRCh38]
Chr9:80861601 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.802C>G (p.Leu268Val) single nucleotide variant not provided [RCV001370774] Chr9:78246692 [GRCh38]
Chr9:80861608 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.736T>C (p.Cys246Arg) single nucleotide variant not provided [RCV001339419] Chr9:78243594 [GRCh38]
Chr9:80858510 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.779-9C>A single nucleotide variant not provided [RCV001348371] Chr9:78246660 [GRCh38]
Chr9:80861576 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.1301A>C (p.Glu434Ala) single nucleotide variant not provided [RCV001302955] Chr9:78254885 [GRCh38]
Chr9:80869801 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.747A>G (p.Ala249=) single nucleotide variant not provided [RCV001395599] Chr9:78243605 [GRCh38]
Chr9:80858521 [GRCh37]
Chr9:9q21.2		 likely benign
NM_001330691.3(CEP78):c.1252-2del deletion not provided [RCV001368002] Chr9:78254833 [GRCh38]
Chr9:80869749 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.1488T>A (p.Asn496Lys) single nucleotide variant Inborn genetic diseases [RCV003375264]|not provided [RCV001365682] Chr9:78264179 [GRCh38]
Chr9:80879095 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.779-20C>A single nucleotide variant not provided [RCV001396099] Chr9:78246649 [GRCh38]
Chr9:80861565 [GRCh37]
Chr9:9q21.2		 likely benign
NM_001330691.3(CEP78):c.598T>C (p.Leu200=) single nucleotide variant not provided [RCV001477964] Chr9:78241794 [GRCh38]
Chr9:80856710 [GRCh37]
Chr9:9q21.2		 likely benign
NM_001330691.3(CEP78):c.528C>T (p.Ile176=) single nucleotide variant not provided [RCV001487303] Chr9:78241724 [GRCh38]
Chr9:80856640 [GRCh37]
Chr9:9q21.2		 likely benign
NM_001330691.3(CEP78):c.1846-19G>C single nucleotide variant not provided [RCV001417349] Chr9:78266423 [GRCh38]
Chr9:80881339 [GRCh37]
Chr9:9q21.2		 likely benign
NM_001330691.3(CEP78):c.45C>T (p.Phe15=) single nucleotide variant not provided [RCV001441525] Chr9:78236395 [GRCh38]
Chr9:80851311 [GRCh37]
Chr9:9q21.2		 likely benign
NM_001330691.3(CEP78):c.892+8G>A single nucleotide variant not provided [RCV001399897] Chr9:78246790 [GRCh38]
Chr9:80861706 [GRCh37]
Chr9:9q21.2		 likely benign
NM_001330691.3(CEP78):c.1113C>A (p.Ser371=) single nucleotide variant not provided [RCV001465165] Chr9:78251951 [GRCh38]
Chr9:80866867 [GRCh37]
Chr9:9q21.2		 likely benign
NM_001330691.3(CEP78):c.2049A>G (p.Arg683=) single nucleotide variant not provided [RCV001467442] Chr9:78266645 [GRCh38]
Chr9:80881561 [GRCh37]
Chr9:9q21.2		 likely benign
NM_001330691.3(CEP78):c.2064G>A (p.Leu688=) single nucleotide variant not provided [RCV001511247] Chr9:78266660 [GRCh38]
Chr9:80881576 [GRCh37]
Chr9:9q21.2		 benign
NM_001330691.3(CEP78):c.1737G>T (p.Ala579=) single nucleotide variant CEP78-related condition [RCV003948498]|not provided [RCV001511336] Chr9:78265483 [GRCh38]
Chr9:80880399 [GRCh37]
Chr9:9q21.2		 benign|likely benign
NM_001330691.3(CEP78):c.948C>T (p.Ala316=) single nucleotide variant not provided [RCV001511337] Chr9:78248346 [GRCh38]
Chr9:80863262 [GRCh37]
Chr9:9q21.2		 benign
NM_001330691.3(CEP78):c.1459-1G>T single nucleotide variant Cone-rod dystrophy and hearing loss 1 [RCV001523889] Chr9:78264149 [GRCh38]
Chr9:80879065 [GRCh37]
Chr9:9q21.2		 pathogenic
NM_001330691.3(CEP78):c.449T>C (p.Leu150Ser) single nucleotide variant Cone-rod dystrophy and hearing loss 1 [RCV001523890]|not provided [RCV001543508] Chr9:78240314 [GRCh38]
Chr9:80855230 [GRCh37]
Chr9:9q21.2		 pathogenic|likely pathogenic
NM_001330691.3(CEP78):c.1134G>A (p.Ala378=) single nucleotide variant not provided [RCV001436981] Chr9:78251972 [GRCh38]
Chr9:80866888 [GRCh37]
Chr9:9q21.2		 likely benign
NM_001330691.3(CEP78):c.253+20A>G single nucleotide variant not provided [RCV001512851] Chr9:78236623 [GRCh38]
Chr9:80851539 [GRCh37]
Chr9:9q21.2		 benign
NM_001330691.3(CEP78):c.710A>G (p.Asn237Ser) single nucleotide variant not provided [RCV001483804] Chr9:78243568 [GRCh38]
Chr9:80858484 [GRCh37]
Chr9:9q21.2		 likely benign
NM_001330691.3(CEP78):c.819A>G (p.Ala273=) single nucleotide variant not provided [RCV001488634] Chr9:78246709 [GRCh38]
Chr9:80861625 [GRCh37]
Chr9:9q21.2		 likely benign
NM_001330691.3(CEP78):c.957+12T>C single nucleotide variant not provided [RCV001440686] Chr9:78248367 [GRCh38]
Chr9:80863283 [GRCh37]
Chr9:9q21.2		 likely benign
NM_001330691.3(CEP78):c.633C>G (p.Thr211=) single nucleotide variant not provided [RCV001435726] Chr9:78243491 [GRCh38]
Chr9:80858407 [GRCh37]
Chr9:9q21.2		 likely benign
NM_001330691.3(CEP78):c.810T>C (p.Asn270=) single nucleotide variant not provided [RCV001443846] Chr9:78246700 [GRCh38]
Chr9:80861616 [GRCh37]
Chr9:9q21.2		 likely benign
NM_001330691.3(CEP78):c.1419_1422del (p.Glu473_Arg474insTer) microsatellite not provided [RCV001387663] Chr9:78262941..78262944 [GRCh38]
Chr9:80877857..80877860 [GRCh37]
Chr9:9q21.2		 pathogenic
NM_001330691.3(CEP78):c.126G>A (p.Val42=) single nucleotide variant not provided [RCV001403515] Chr9:78236476 [GRCh38]
Chr9:80851392 [GRCh37]
Chr9:9q21.2		 likely benign
NM_001330691.3(CEP78):c.1629T>G (p.Leu543=) single nucleotide variant CEP78-related condition [RCV003946058]|not provided [RCV001402697] Chr9:78265375 [GRCh38]
Chr9:80880291 [GRCh37]
Chr9:9q21.2		 likely benign
NM_001330691.3(CEP78):c.1447C>T (p.Arg483Ter) single nucleotide variant Cone-rod dystrophy and hearing loss 1 [RCV001376465]|Cone-rod dystrophy and hearing loss [RCV003225969]|not provided [RCV001390855] Chr9:78262973 [GRCh38]
Chr9:80877889 [GRCh37]
Chr9:9q21.2		 pathogenic|likely pathogenic
NM_001330691.3(CEP78):c.60del (p.Glu20fs) deletion not provided [RCV001388463] Chr9:78236410 [GRCh38]
Chr9:80851326 [GRCh37]
Chr9:9q21.2		 pathogenic
NM_001330691.3(CEP78):c.254-14T>C single nucleotide variant not provided [RCV001423686] Chr9:78240009 [GRCh38]
Chr9:80854925 [GRCh37]
Chr9:9q21.2		 likely benign
NC_000009.11:g.(?_80851267)_(80858572_?)del deletion not provided [RCV001385266] Chr9:80851267..80858572 [GRCh37]
Chr9:9q21.2		 pathogenic
NM_001330691.3(CEP78):c.658A>C (p.Arg220=) single nucleotide variant not provided [RCV001408000] Chr9:78243516 [GRCh38]
Chr9:80858432 [GRCh37]
Chr9:9q21.2		 likely benign
NM_001330691.3(CEP78):c.1380+15C>T single nucleotide variant not provided [RCV001410728] Chr9:78254979 [GRCh38]
Chr9:80869895 [GRCh37]
Chr9:9q21.2		 likely benign
NM_001330691.3(CEP78):c.827del (p.Leu276fs) deletion not provided [RCV001543431] Chr9:78246715 [GRCh38]
Chr9:80861631 [GRCh37]
Chr9:9q21.2		 likely pathogenic
NM_001330691.3(CEP78):c.440C>A (p.Ser147Ter) single nucleotide variant not provided [RCV001387738] Chr9:78240305 [GRCh38]
Chr9:80855221 [GRCh37]
Chr9:9q21.2		 pathogenic
NM_001330691.3(CEP78):c.44TCT[1] (p.Phe16del) microsatellite not provided [RCV001429595] Chr9:78236392..78236394 [GRCh38]
Chr9:80851308..80851310 [GRCh37]
Chr9:9q21.2		 likely benign
NM_001330691.3(CEP78):c.779-5G>A single nucleotide variant not provided [RCV001448133] Chr9:78246664 [GRCh38]
Chr9:80861580 [GRCh37]
Chr9:9q21.2		 likely benign
NM_001330691.3(CEP78):c.2107+32A>G single nucleotide variant not provided [RCV001418257] Chr9:78266735 [GRCh38]
Chr9:80881651 [GRCh37]
Chr9:9q21.2		 likely benign
NM_001330691.3(CEP78):c.2107+17A>G single nucleotide variant not provided [RCV001461523] Chr9:78266720 [GRCh38]
Chr9:80881636 [GRCh37]
Chr9:9q21.2		 likely benign
NM_001330691.3(CEP78):c.426+10G>T single nucleotide variant not provided [RCV001472609] Chr9:78240205 [GRCh38]
Chr9:80855121 [GRCh37]
Chr9:9q21.2		 likely benign
NM_001330691.3(CEP78):c.1458+10del deletion not provided [RCV001511246] Chr9:78262991 [GRCh38]
Chr9:80877907 [GRCh37]
Chr9:9q21.2		 benign
NM_001330691.3(CEP78):c.958-128T>C single nucleotide variant not provided [RCV001687347] Chr9:78248634 [GRCh38]
Chr9:80863550 [GRCh37]
Chr9:9q21.2		 benign
NM_001330691.3(CEP78):c.427-19C>T single nucleotide variant not provided [RCV001512852] Chr9:78240273 [GRCh38]
Chr9:80855189 [GRCh37]
Chr9:9q21.2		 benign
NM_001330691.3(CEP78):c.1533A>G (p.Thr511=) single nucleotide variant not provided [RCV001478007] Chr9:78264224 [GRCh38]
Chr9:80879140 [GRCh37]
Chr9:9q21.2		 likely benign
NM_001330691.3(CEP78):c.1887C>T (p.Leu629=) single nucleotide variant not provided [RCV001488178] Chr9:78266483 [GRCh38]
Chr9:80881399 [GRCh37]
Chr9:9q21.2		 likely benign
NM_001330691.3(CEP78):c.893-199C>A single nucleotide variant not provided [RCV001665855] Chr9:78248092 [GRCh38]
Chr9:80863008 [GRCh37]
Chr9:9q21.2		 benign
NM_001330691.3(CEP78):c.500-10dup duplication not provided [RCV001523109] Chr9:78241677..78241678 [GRCh38]
Chr9:80856593..80856594 [GRCh37]
Chr9:9q21.2		 benign
NM_001330691.3(CEP78):c.1458+9_1458+10del deletion not provided [RCV001460676] Chr9:78262991..78262992 [GRCh38]
Chr9:80877907..80877908 [GRCh37]
Chr9:9q21.2		 likely benign
NM_001330691.3(CEP78):c.892+7C>T single nucleotide variant not provided [RCV001428499] Chr9:78246789 [GRCh38]
Chr9:80861705 [GRCh37]
Chr9:9q21.2		 likely benign
NM_001330691.3(CEP78):c.427-13C>G single nucleotide variant not provided [RCV001512723] Chr9:78240279 [GRCh38]
Chr9:80855195 [GRCh37]
Chr9:9q21.2		 benign
NM_001330691.3(CEP78):c.500-10del deletion not provided [RCV001512724] Chr9:78241678 [GRCh38]
Chr9:80856594 [GRCh37]
Chr9:9q21.2		 benign
NM_001330691.3(CEP78):c.1797+17G>T single nucleotide variant not provided [RCV001512853] Chr9:78265560 [GRCh38]
Chr9:80880476 [GRCh37]
Chr9:9q21.2		 benign
NM_001330691.3(CEP78):c.405G>A (p.Arg135=) single nucleotide variant not provided [RCV001504847] Chr9:78240174 [GRCh38]
Chr9:80855090 [GRCh37]
Chr9:9q21.2		 likely benign
NM_001330691.3(CEP78):c.294G>A (p.Ala98=) single nucleotide variant not provided [RCV001471252] Chr9:78240063 [GRCh38]
Chr9:80854979 [GRCh37]
Chr9:9q21.2		 likely benign
NM_001330691.3(CEP78):c.1252-4dup duplication not provided [RCV001513654] Chr9:78254825..78254826 [GRCh38]
Chr9:80869741..80869742 [GRCh37]
Chr9:9q21.2		 benign
NM_001330691.3(CEP78):c.1543C>T (p.Leu515=) single nucleotide variant not provided [RCV001451813] Chr9:78264234 [GRCh38]
Chr9:80879150 [GRCh37]
Chr9:9q21.2		 likely benign
NM_001330691.3(CEP78):c.1845+14T>C single nucleotide variant not provided [RCV001397845] Chr9:78265920 [GRCh38]
Chr9:80880836 [GRCh37]
Chr9:9q21.2		 likely benign
NM_001330691.3(CEP78):c.500-19G>T single nucleotide variant not provided [RCV001397848] Chr9:78241677 [GRCh38]
Chr9:80856593 [GRCh37]
Chr9:9q21.2		 likely benign
NM_001330691.3(CEP78):c.312G>A (p.Val104=) single nucleotide variant not provided [RCV001463271] Chr9:78240081 [GRCh38]
Chr9:80854997 [GRCh37]
Chr9:9q21.2		 likely benign
NM_001330691.3(CEP78):c.499+20A>T single nucleotide variant not provided [RCV001424147] Chr9:78240384 [GRCh38]
Chr9:80855300 [GRCh37]
Chr9:9q21.2		 likely benign
NM_001330691.3(CEP78):c.778+18G>T single nucleotide variant not provided [RCV001454975] Chr9:78243654 [GRCh38]
Chr9:80858570 [GRCh37]
Chr9:9q21.2		 likely benign
NM_001330691.3(CEP78):c.1845+16T>C single nucleotide variant not provided [RCV001463849] Chr9:78265922 [GRCh38]
Chr9:80880838 [GRCh37]
Chr9:9q21.2		 likely benign
NM_001330691.3(CEP78):c.1278A>G (p.Thr426=) single nucleotide variant not provided [RCV001484046] Chr9:78254862 [GRCh38]
Chr9:80869778 [GRCh37]
Chr9:9q21.2		 likely benign
NM_001330691.3(CEP78):c.1173G>A (p.Pro391=) single nucleotide variant not provided [RCV001484052] Chr9:78252011 [GRCh38]
Chr9:80866927 [GRCh37]
Chr9:9q21.2		 likely benign
NM_001330691.3(CEP78):c.2023G>C (p.Ala675Pro) single nucleotide variant not provided [RCV001401038] Chr9:78266619 [GRCh38]
Chr9:80881535 [GRCh37]
Chr9:9q21.2		 likely benign
NM_001330691.3(CEP78):c.1138G>T (p.Ala380Ser) single nucleotide variant not provided [RCV003108820] Chr9:78251976 [GRCh38]
Chr9:80866892 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.779-8A>G single nucleotide variant not provided [RCV001727477] Chr9:78246661 [GRCh38]
Chr9:80861577 [GRCh37]
Chr9:9q21.2		 conflicting interpretations of pathogenicity|uncertain significance
NC_000009.11:g.12246100_101559378inv inversion Recurrent spontaneous abortion [RCV000999471] Chr9:12246100..101559378 [GRCh37]
Chr9:9p23-q22.33		 likely pathogenic
NM_001330691.3(CEP78):c.180dup (p.Thr61fs) duplication Cone-rod dystrophy and hearing loss 1 [RCV001780763] Chr9:78236529..78236530 [GRCh38]
Chr9:80851445..80851446 [GRCh37]
Chr9:9q21.2		 likely pathogenic
NM_001330691.3(CEP78):c.1760del (p.Pro587fs) deletion Cone-rod dystrophy and hearing loss 1 [RCV001780764] Chr9:78265505 [GRCh38]
Chr9:80880421 [GRCh37]
Chr9:9q21.2		 likely pathogenic
NM_001330691.3(CEP78):c.318C>A (p.Phe106Leu) single nucleotide variant not provided [RCV001816507] Chr9:78240087 [GRCh38]
Chr9:80855003 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.830T>C (p.Leu277Pro) single nucleotide variant not provided [RCV001907779] Chr9:78246720 [GRCh38]
Chr9:80861636 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.1235T>C (p.Ile412Thr) single nucleotide variant not provided [RCV001874066] Chr9:78253261 [GRCh38]
Chr9:80868177 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.1951G>T (p.Val651Phe) single nucleotide variant not provided [RCV001874794] Chr9:78266547 [GRCh38]
Chr9:80881463 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.14T>C (p.Val5Ala) single nucleotide variant not provided [RCV001987877] Chr9:78236364 [GRCh38]
Chr9:80851280 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.1251+4C>T single nucleotide variant not provided [RCV001988704] Chr9:78253281 [GRCh38]
Chr9:80868197 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.610A>G (p.Thr204Ala) single nucleotide variant Inborn genetic diseases [RCV003247074]|not provided [RCV001930012] Chr9:78243468 [GRCh38]
Chr9:80858384 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.890T>C (p.Ile297Thr) single nucleotide variant not provided [RCV001987022] Chr9:78246780 [GRCh38]
Chr9:80861696 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.307G>C (p.Asp103His) single nucleotide variant not provided [RCV002021567] Chr9:78240076 [GRCh38]
Chr9:80854992 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.71C>T (p.Ala24Val) single nucleotide variant not provided [RCV002009270] Chr9:78236421 [GRCh38]
Chr9:80851337 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.1326_1327insACCCATGTGGACCAGGTTGGCCTCGAACTCGTGCCCTCGAACCCTCGCCTCTCTGAGGGTCCGAGGGCCCGCGCAACCGGCCGGAGCCACAATGGCTCCAGGTTGATGATTCTTCA (p.Glu443fs) insertion not provided [RCV001970217] Chr9:78254893..78254894 [GRCh38]
Chr9:80869809..80869810 [GRCh37]
Chr9:9q21.2		 pathogenic
NM_001330691.3(CEP78):c.1354A>G (p.Thr452Ala) single nucleotide variant not provided [RCV001874145] Chr9:78254938 [GRCh38]
Chr9:80869854 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.1820C>G (p.Ala607Gly) single nucleotide variant not provided [RCV001927620] Chr9:78265881 [GRCh38]
Chr9:80880797 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.2039G>C (p.Gly680Ala) single nucleotide variant not provided [RCV002025340] Chr9:78266635 [GRCh38]
Chr9:80881551 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.491G>T (p.Gly164Val) single nucleotide variant not provided [RCV002045022] Chr9:78240356 [GRCh38]
Chr9:80855272 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.1009C>T (p.Gln337Ter) single nucleotide variant not provided [RCV001949384] Chr9:78248813 [GRCh38]
Chr9:80863729 [GRCh37]
Chr9:9q21.2		 pathogenic
NM_001330691.3(CEP78):c.124G>T (p.Val42Leu) single nucleotide variant not provided [RCV001965723] Chr9:78236474 [GRCh38]
Chr9:80851390 [GRCh37]
Chr9:9q21.2		 uncertain significance
GRCh37/hg19 9q21.11-33.2(chr9:71349994-122603410) copy number gain not specified [RCV002053853] Chr9:71349994..122603410 [GRCh37]
Chr9:9q21.11-33.2		 likely pathogenic
GRCh37/hg19 9q21.2(chr9:80756063-80906810) copy number loss not specified [RCV002053860] Chr9:80756063..80906810 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.1243C>T (p.Gln415Ter) single nucleotide variant not provided [RCV001947827] Chr9:78253269 [GRCh38]
Chr9:80868185 [GRCh37]
Chr9:9q21.2		 pathogenic
NM_001330691.3(CEP78):c.40G>T (p.Asp14Tyr) single nucleotide variant not provided [RCV001890846] Chr9:78236390 [GRCh38]
Chr9:80851306 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.106G>A (p.Ala36Thr) single nucleotide variant Cone-rod dystrophy and hearing loss 1 [RCV002478274]|not provided [RCV001892966] Chr9:78236456 [GRCh38]
Chr9:80851372 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.936T>A (p.Asn312Lys) single nucleotide variant not provided [RCV001892397] Chr9:78248334 [GRCh38]
Chr9:80863250 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.1607A>C (p.Asp536Ala) single nucleotide variant not provided [RCV001965793] Chr9:78264298 [GRCh38]
Chr9:80879214 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.1090G>A (p.Val364Ile) single nucleotide variant not provided [RCV002020925] Chr9:78251928 [GRCh38]
Chr9:80866844 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.89C>A (p.Pro30Gln) single nucleotide variant not provided [RCV001984267] Chr9:78236439 [GRCh38]
Chr9:80851355 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.1921G>A (p.Gly641Ser) single nucleotide variant not provided [RCV001926460] Chr9:78266517 [GRCh38]
Chr9:80881433 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.2004G>A (p.Met668Ile) single nucleotide variant not provided [RCV002044250] Chr9:78266600 [GRCh38]
Chr9:80881516 [GRCh37]
Chr9:9q21.2		 uncertain significance
GRCh37/hg19 9p24.3-q21.32(chr9:203861-84155399) copy number gain not specified [RCV002053820] Chr9:203861..84155399 [GRCh37]
Chr9:9p24.3-q21.32		 pathogenic
NM_001330691.3(CEP78):c.1810A>G (p.Met604Val) single nucleotide variant not provided [RCV001927831] Chr9:78265871 [GRCh38]
Chr9:80880787 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.1060A>G (p.Ile354Val) single nucleotide variant not provided [RCV001914024] Chr9:78248864 [GRCh38]
Chr9:80863780 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.1022C>A (p.Thr341Asn) single nucleotide variant not provided [RCV001970516] Chr9:78248826 [GRCh38]
Chr9:80863742 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.818C>G (p.Ala273Gly) single nucleotide variant not provided [RCV002004123] Chr9:78246708 [GRCh38]
Chr9:80861624 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.1206G>A (p.Arg402=) single nucleotide variant not provided [RCV001891814] Chr9:78253232 [GRCh38]
Chr9:80868148 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.2T>C (p.Met1Thr) single nucleotide variant not provided [RCV002024186] Chr9:78236352 [GRCh38]
Chr9:80851268 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.2054_2055insCAACAA (p.Glu685delinsAspAsnLys) insertion not provided [RCV001892507] Chr9:78266649..78266650 [GRCh38]
Chr9:80881565..80881566 [GRCh37]
Chr9:9q21.2		 uncertain significance
GRCh37/hg19 9q21.2(chr9:80833575-80973771) copy number gain not specified [RCV002053861] Chr9:80833575..80973771 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.809A>G (p.Asn270Ser) single nucleotide variant not provided [RCV002022377] Chr9:78246699 [GRCh38]
Chr9:80861615 [GRCh37]
Chr9:9q21.2		 uncertain significance
GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389) copy number gain not specified [RCV002053823] Chr9:353349..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
NM_001330691.3(CEP78):c.1760C>T (p.Pro587Leu) single nucleotide variant Inborn genetic diseases [RCV002571285]|not provided [RCV001964159] Chr9:78265506 [GRCh38]
Chr9:80880422 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.1336C>A (p.His446Asn) single nucleotide variant not provided [RCV001892557] Chr9:78254920 [GRCh38]
Chr9:80869836 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.221A>G (p.Lys74Arg) single nucleotide variant not provided [RCV001924354] Chr9:78236571 [GRCh38]
Chr9:80851487 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.257C>T (p.Ser86Phe) single nucleotide variant not provided [RCV001884338] Chr9:78240026 [GRCh38]
Chr9:80854942 [GRCh37]
Chr9:9q21.2		 uncertain significance
NC_000009.11:g.(?_80881497)_(80888713_?)del deletion not provided [RCV002036629] Chr9:80881497..80888713 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.1208G>A (p.Gly403Asp) single nucleotide variant not provided [RCV001878842] Chr9:78253234 [GRCh38]
Chr9:80868150 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.613A>C (p.Met205Leu) single nucleotide variant Inborn genetic diseases [RCV004040331]|not provided [RCV001944475] Chr9:78243471 [GRCh38]
Chr9:80858387 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.371A>G (p.Asn124Ser) single nucleotide variant not provided [RCV001944675] Chr9:78240140 [GRCh38]
Chr9:80855056 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.1490T>C (p.Ile497Thr) single nucleotide variant not provided [RCV001944792] Chr9:78264181 [GRCh38]
Chr9:80879097 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.1888G>T (p.Asp630Tyr) single nucleotide variant not provided [RCV002018753] Chr9:78266484 [GRCh38]
Chr9:80881400 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.1459-14A>G single nucleotide variant not provided [RCV001961700] Chr9:78264136 [GRCh38]
Chr9:80879052 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.2081C>T (p.Ser694Phe) single nucleotide variant not provided [RCV002048490] Chr9:78266677 [GRCh38]
Chr9:80881593 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.1081A>G (p.Lys361Glu) single nucleotide variant not provided [RCV001888219] Chr9:78251919 [GRCh38]
Chr9:80866835 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.59A>T (p.Glu20Val) single nucleotide variant not provided [RCV002035189] Chr9:78236409 [GRCh38]
Chr9:80851325 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.919_940dup (p.Arg314fs) duplication not provided [RCV001943531] Chr9:78248316..78248317 [GRCh38]
Chr9:80863232..80863233 [GRCh37]
Chr9:9q21.2		 pathogenic
NM_001330691.3(CEP78):c.1537A>G (p.Met513Val) single nucleotide variant not provided [RCV002049320] Chr9:78264228 [GRCh38]
Chr9:80879144 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.1228C>A (p.Arg410Ser) single nucleotide variant not provided [RCV001916425] Chr9:78253254 [GRCh38]
Chr9:80868170 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.539C>T (p.Thr180Ile) single nucleotide variant not provided [RCV002011671] Chr9:78241735 [GRCh38]
Chr9:80856651 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.603+17A>G single nucleotide variant not provided [RCV001994366] Chr9:78241816 [GRCh38]
Chr9:80856732 [GRCh37]
Chr9:9q21.2		 likely benign|uncertain significance
NM_001330691.3(CEP78):c.2059G>C (p.Glu687Gln) single nucleotide variant not provided [RCV002029487] Chr9:78266655 [GRCh38]
Chr9:80881571 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.1539G>A (p.Met513Ile) single nucleotide variant not provided [RCV001976637] Chr9:78264230 [GRCh38]
Chr9:80879146 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.122G>T (p.Gly41Val) single nucleotide variant not provided [RCV001975315] Chr9:78236472 [GRCh38]
Chr9:80851388 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.133T>A (p.Phe45Ile) single nucleotide variant not provided [RCV001881052] Chr9:78236483 [GRCh38]
Chr9:80851399 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.1458G>A (p.Glu486=) single nucleotide variant not provided [RCV001931260] Chr9:78262984 [GRCh38]
Chr9:80877900 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.109T>C (p.Cys37Arg) single nucleotide variant not provided [RCV001937122] Chr9:78236459 [GRCh38]
Chr9:80851375 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.881del (p.Asn294fs) deletion not provided [RCV001879157] Chr9:78246766 [GRCh38]
Chr9:80861682 [GRCh37]
Chr9:9q21.2		 pathogenic
NM_001330691.3(CEP78):c.392T>C (p.Ile131Thr) single nucleotide variant not provided [RCV001876613] Chr9:78240161 [GRCh38]
Chr9:80855077 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.1150C>G (p.Pro384Ala) single nucleotide variant not provided [RCV002049827] Chr9:78251988 [GRCh38]
Chr9:80866904 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.478A>G (p.Ile160Val) single nucleotide variant not provided [RCV001952222] Chr9:78240343 [GRCh38]
Chr9:80855259 [GRCh37]
Chr9:9q21.2		 uncertain significance
NC_000009.11:g.(?_79792621)_(80944002_?)del deletion Neu-Laxova syndrome 2 [RCV001953529] Chr9:79792621..80944002 [GRCh37]
Chr9:9q21.2		 pathogenic
NM_001330691.3(CEP78):c.11C>T (p.Ser4Phe) single nucleotide variant not provided [RCV001898447] Chr9:78236361 [GRCh38]
Chr9:80851277 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.52C>T (p.His18Tyr) single nucleotide variant not provided [RCV002048782] Chr9:78236402 [GRCh38]
Chr9:80851318 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.892+4T>C single nucleotide variant not provided [RCV001956690] Chr9:78246786 [GRCh38]
Chr9:80861702 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.233A>C (p.Gln78Pro) single nucleotide variant not provided [RCV001899929] Chr9:78236583 [GRCh38]
Chr9:80851499 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.422C>T (p.Ala141Val) single nucleotide variant not provided [RCV001864984] Chr9:78240191 [GRCh38]
Chr9:80855107 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.1256C>G (p.Pro419Arg) single nucleotide variant not provided [RCV001991937] Chr9:78254840 [GRCh38]
Chr9:80869756 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.1187A>G (p.Glu396Gly) single nucleotide variant not provided [RCV001953986] Chr9:78252025 [GRCh38]
Chr9:80866941 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.976C>G (p.Pro326Ala) single nucleotide variant not provided [RCV001989452] Chr9:78248780 [GRCh38]
Chr9:80863696 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.794A>G (p.Gln265Arg) single nucleotide variant not provided [RCV001933343] Chr9:78246684 [GRCh38]
Chr9:80861600 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.1499C>T (p.Ser500Phe) single nucleotide variant not provided [RCV001996074] Chr9:78264190 [GRCh38]
Chr9:80879106 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.1942A>T (p.Asn648Tyr) single nucleotide variant Inborn genetic diseases [RCV002675470]|not provided [RCV002047925] Chr9:78266538 [GRCh38]
Chr9:80881454 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.234G>T (p.Gln78His) single nucleotide variant not provided [RCV001998143] Chr9:78236584 [GRCh38]
Chr9:80851500 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.1454del (p.Ser485fs) deletion Cone-rod dystrophy and hearing loss 1 [RCV004017881]|not provided [RCV001917707] Chr9:78262980 [GRCh38]
Chr9:80877896 [GRCh37]
Chr9:9q21.2		 pathogenic|likely pathogenic
NM_001330691.3(CEP78):c.1013A>G (p.Lys338Arg) single nucleotide variant Inborn genetic diseases [RCV002608083]|not provided [RCV001981260] Chr9:78248817 [GRCh38]
Chr9:80863733 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.516A>G (p.Ile172Met) single nucleotide variant not provided [RCV001981870] Chr9:78241712 [GRCh38]
Chr9:80856628 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.1148C>T (p.Pro383Leu) single nucleotide variant not provided [RCV001982415] Chr9:78251986 [GRCh38]
Chr9:80866902 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.1022C>T (p.Thr341Ile) single nucleotide variant not provided [RCV001940001] Chr9:78248826 [GRCh38]
Chr9:80863742 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.1642A>G (p.Thr548Ala) single nucleotide variant not provided [RCV002019137] Chr9:78265388 [GRCh38]
Chr9:80880304 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.1918G>C (p.Glu640Gln) single nucleotide variant not provided [RCV002027651] Chr9:78266514 [GRCh38]
Chr9:80881430 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.415A>C (p.Ile139Leu) single nucleotide variant not provided [RCV002010002] Chr9:78240184 [GRCh38]
Chr9:80855100 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.623A>G (p.His208Arg) single nucleotide variant not provided [RCV001905066] Chr9:78243481 [GRCh38]
Chr9:80858397 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.926T>C (p.Val309Ala) single nucleotide variant not provided [RCV001900274] Chr9:78248324 [GRCh38]
Chr9:80863240 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.2056GAG[1] (p.Glu687del) microsatellite not provided [RCV001952714] Chr9:78266652..78266654 [GRCh38]
Chr9:80881568..80881570 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.910G>A (p.Ala304Thr) single nucleotide variant Inborn genetic diseases [RCV002548088]|not provided [RCV001905117] Chr9:78248308 [GRCh38]
Chr9:80863224 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.1414_1417del (p.Glu472fs) deletion not provided [RCV001959100] Chr9:78262937..78262940 [GRCh38]
Chr9:80877853..80877856 [GRCh37]
Chr9:9q21.2		 pathogenic
NM_001330691.3(CEP78):c.1666G>T (p.Asp556Tyr) single nucleotide variant not provided [RCV002046754] Chr9:78265412 [GRCh38]
Chr9:80880328 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.738T>G (p.Cys246Trp) single nucleotide variant not provided [RCV001977238] Chr9:78243596 [GRCh38]
Chr9:80858512 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.74T>C (p.Leu25Pro) single nucleotide variant not provided [RCV002018294] Chr9:78236424 [GRCh38]
Chr9:80851340 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.940A>G (p.Arg314Gly) single nucleotide variant Inborn genetic diseases [RCV002564434]|not provided [RCV001997690] Chr9:78248338 [GRCh38]
Chr9:80863254 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.1747G>A (p.Glu583Lys) single nucleotide variant Inborn genetic diseases [RCV002573466]|not provided [RCV001998293] Chr9:78265493 [GRCh38]
Chr9:80880409 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.415A>G (p.Ile139Val) single nucleotide variant Inborn genetic diseases [RCV002553505]|not provided [RCV001884150] Chr9:78240184 [GRCh38]
Chr9:80855100 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.1265C>T (p.Pro422Leu) single nucleotide variant not provided [RCV001940668] Chr9:78254849 [GRCh38]
Chr9:80869765 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.676A>G (p.Met226Val) single nucleotide variant not provided [RCV001867425] Chr9:78243534 [GRCh38]
Chr9:80858450 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.104G>T (p.Arg35Leu) single nucleotide variant Inborn genetic diseases [RCV003170205]|not provided [RCV001994980] Chr9:78236454 [GRCh38]
Chr9:80851370 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.341_342insT (p.Cys115fs) insertion not provided [RCV001951220] Chr9:78240110..78240111 [GRCh38]
Chr9:80855026..80855027 [GRCh37]
Chr9:9q21.2		 pathogenic
NM_001330691.3(CEP78):c.1067T>C (p.Ile356Thr) single nucleotide variant not provided [RCV001977928] Chr9:78248871 [GRCh38]
Chr9:80863787 [GRCh37]
Chr9:9q21.2		 uncertain significance
NC_000009.11:g.(?_80861565)_(80863809_?)dup duplication not provided [RCV001916297] Chr9:80861565..80863809 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.1205G>A (p.Arg402Lys) single nucleotide variant not provided [RCV001883263] Chr9:78252043 [GRCh38]
Chr9:80866959 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.1065A>G (p.Arg355=) single nucleotide variant not provided [RCV002208378] Chr9:78248869 [GRCh38]
Chr9:80863785 [GRCh37]
Chr9:9q21.2		 likely benign
NM_001330691.3(CEP78):c.654T>C (p.Tyr218=) single nucleotide variant not provided [RCV002170105] Chr9:78243512 [GRCh38]
Chr9:80858428 [GRCh37]
Chr9:9q21.2		 likely benign
NM_001330691.3(CEP78):c.1252-13C>G single nucleotide variant not provided [RCV002210026] Chr9:78254823 [GRCh38]
Chr9:80869739 [GRCh37]
Chr9:9q21.2		 likely benign
NM_001330691.3(CEP78):c.1908T>G (p.Val636=) single nucleotide variant not provided [RCV002189654] Chr9:78266504 [GRCh38]
Chr9:80881420 [GRCh37]
Chr9:9q21.2		 likely benign
NM_001330691.3(CEP78):c.957+8A>T single nucleotide variant not provided [RCV002091618] Chr9:78248363 [GRCh38]
Chr9:80863279 [GRCh37]
Chr9:9q21.2		 likely benign
NM_001330691.3(CEP78):c.253+19C>T single nucleotide variant not provided [RCV002145316] Chr9:78236622 [GRCh38]
Chr9:80851538 [GRCh37]
Chr9:9q21.2		 likely benign
NM_001330691.3(CEP78):c.2106A>G (p.Thr702=) single nucleotide variant not provided [RCV002170032] Chr9:78266702 [GRCh38]
Chr9:80881618 [GRCh37]
Chr9:9q21.2		 likely benign
NM_001330691.3(CEP78):c.72G>T (p.Ala24=) single nucleotide variant not provided [RCV002109091] Chr9:78236422 [GRCh38]
Chr9:80851338 [GRCh37]
Chr9:9q21.2		 likely benign
NM_001330691.3(CEP78):c.1459-9_1459-7del microsatellite not provided [RCV002168636] Chr9:78264137..78264139 [GRCh38]
Chr9:80879053..80879055 [GRCh37]
Chr9:9q21.2		 likely benign
NM_001330691.3(CEP78):c.1380+10T>C single nucleotide variant not provided [RCV002191036] Chr9:78254974 [GRCh38]
Chr9:80869890 [GRCh37]
Chr9:9q21.2		 likely benign
NM_001330691.3(CEP78):c.175C>T (p.Leu59=) single nucleotide variant not provided [RCV002071095] Chr9:78236525 [GRCh38]
Chr9:80851441 [GRCh37]
Chr9:9q21.2		 likely benign
NM_001330691.3(CEP78):c.1737G>A (p.Ala579=) single nucleotide variant CEP78-related condition [RCV003958571]|not provided [RCV002209804] Chr9:78265483 [GRCh38]
Chr9:80880399 [GRCh37]
Chr9:9q21.2		 likely benign
NM_001330691.3(CEP78):c.254-13A>G single nucleotide variant not provided [RCV002190359] Chr9:78240010 [GRCh38]
Chr9:80854926 [GRCh37]
Chr9:9q21.2		 likely benign
NM_001330691.3(CEP78):c.261C>T (p.Asp87=) single nucleotide variant not provided [RCV002087458] Chr9:78240030 [GRCh38]
Chr9:80854946 [GRCh37]
Chr9:9q21.2		 likely benign
NM_001330691.3(CEP78):c.254-19T>C single nucleotide variant not provided [RCV002174207] Chr9:78240004 [GRCh38]
Chr9:80854920 [GRCh37]
Chr9:9q21.2		 likely benign
NM_001330691.3(CEP78):c.957+9T>C single nucleotide variant not provided [RCV002153853] Chr9:78248364 [GRCh38]
Chr9:80863280 [GRCh37]
Chr9:9q21.2		 likely benign
NM_001330691.3(CEP78):c.604-10A>T single nucleotide variant not provided [RCV002174683] Chr9:78243452 [GRCh38]
Chr9:80858368 [GRCh37]
Chr9:9q21.2		 likely benign
NM_001330691.3(CEP78):c.1625+19A>G single nucleotide variant not provided [RCV002171191] Chr9:78264335 [GRCh38]
Chr9:80879251 [GRCh37]
Chr9:9q21.2		 likely benign
NM_001330691.3(CEP78):c.114C>T (p.Leu38=) single nucleotide variant not provided [RCV002170608] Chr9:78236464 [GRCh38]
Chr9:80851380 [GRCh37]
Chr9:9q21.2		 likely benign
NM_001330691.3(CEP78):c.202C>T (p.Leu68=) single nucleotide variant not provided [RCV002146452] Chr9:78236552 [GRCh38]
Chr9:80851468 [GRCh37]
Chr9:9q21.2		 likely benign
NM_001330691.3(CEP78):c.893-7A>G single nucleotide variant not provided [RCV002151277] Chr9:78248284 [GRCh38]
Chr9:80863200 [GRCh37]
Chr9:9q21.2		 likely benign
NM_001330691.3(CEP78):c.705T>C (p.Asn235=) single nucleotide variant not provided [RCV002145246] Chr9:78243563 [GRCh38]
Chr9:80858479 [GRCh37]
Chr9:9q21.2		 likely benign
NM_001330691.3(CEP78):c.630A>G (p.Glu210=) single nucleotide variant not provided [RCV002152027] Chr9:78243488 [GRCh38]
Chr9:80858404 [GRCh37]
Chr9:9q21.2		 likely benign
NM_001330691.3(CEP78):c.57C>T (p.Tyr19=) single nucleotide variant not provided [RCV002171316] Chr9:78236407 [GRCh38]
Chr9:80851323 [GRCh37]
Chr9:9q21.2		 likely benign
NM_001330691.3(CEP78):c.1182T>C (p.Thr394=) single nucleotide variant not provided [RCV002220294] Chr9:78252020 [GRCh38]
Chr9:80866936 [GRCh37]
Chr9:9q21.2		 likely benign
NM_001330691.3(CEP78):c.1161T>C (p.Ser387=) single nucleotide variant not provided [RCV002121602] Chr9:78251999 [GRCh38]
Chr9:80866915 [GRCh37]
Chr9:9q21.2		 likely benign
NM_001330691.3(CEP78):c.957+15A>T single nucleotide variant not provided [RCV002140305] Chr9:78248370 [GRCh38]
Chr9:80863286 [GRCh37]
Chr9:9q21.2		 likely benign
NM_001330691.3(CEP78):c.957+7C>A single nucleotide variant not provided [RCV002182235] Chr9:78248362 [GRCh38]
Chr9:80863278 [GRCh37]
Chr9:9q21.2		 likely benign
NM_001330691.3(CEP78):c.1626-12T>A single nucleotide variant not provided [RCV002140815] Chr9:78265360 [GRCh38]
Chr9:80880276 [GRCh37]
Chr9:9q21.2		 likely benign
NM_001330691.3(CEP78):c.779-6C>T single nucleotide variant not provided [RCV002137273] Chr9:78246663 [GRCh38]
Chr9:80861579 [GRCh37]
Chr9:9q21.2		 likely benign
NM_001330691.3(CEP78):c.958-16A>G single nucleotide variant not provided [RCV002163432] Chr9:78248746 [GRCh38]
Chr9:80863662 [GRCh37]
Chr9:9q21.2		 likely benign
NM_001330691.3(CEP78):c.1798-6A>G single nucleotide variant not provided [RCV002219124] Chr9:78265853 [GRCh38]
Chr9:80880769 [GRCh37]
Chr9:9q21.2		 likely benign
NM_001330691.3(CEP78):c.441G>A (p.Ser147=) single nucleotide variant not provided [RCV002143550] Chr9:78240306 [GRCh38]
Chr9:80855222 [GRCh37]
Chr9:9q21.2		 likely benign
NM_001330691.3(CEP78):c.72G>A (p.Ala24=) single nucleotide variant not provided [RCV002162459] Chr9:78236422 [GRCh38]
Chr9:80851338 [GRCh37]
Chr9:9q21.2		 likely benign
NM_001330691.3(CEP78):c.1459-4A>G single nucleotide variant CEP78-related condition [RCV003911187]|not provided [RCV002082568] Chr9:78264146 [GRCh38]
Chr9:80879062 [GRCh37]
Chr9:9q21.2		 likely benign
NM_001330691.3(CEP78):c.246G>A (p.Gly82=) single nucleotide variant not provided [RCV002162874] Chr9:78236596 [GRCh38]
Chr9:80851512 [GRCh37]
Chr9:9q21.2		 likely benign
NM_001330691.3(CEP78):c.840T>C (p.Leu280=) single nucleotide variant not provided [RCV002159547] Chr9:78246730 [GRCh38]
Chr9:80861646 [GRCh37]
Chr9:9q21.2		 likely benign
NM_001330691.3(CEP78):c.1089T>C (p.Pro363=) single nucleotide variant not provided [RCV002217112] Chr9:78251927 [GRCh38]
Chr9:80866843 [GRCh37]
Chr9:9q21.2		 likely benign
NM_001330691.3(CEP78):c.1070-22C>A single nucleotide variant not provided [RCV002183464] Chr9:78251886 [GRCh38]
Chr9:80866802 [GRCh37]
Chr9:9q21.2		 likely benign
NM_001330691.3(CEP78):c.1626-6G>A single nucleotide variant not provided [RCV002175218] Chr9:78265366 [GRCh38]
Chr9:80880282 [GRCh37]
Chr9:9q21.2		 likely benign
NM_001330691.3(CEP78):c.1458+19dup duplication not provided [RCV002161305] Chr9:78263002..78263003 [GRCh38]
Chr9:80877918..80877919 [GRCh37]
Chr9:9q21.2		 likely benign
NC_000009.11:g.(?_80881338)_(80881678_?)del deletion not provided [RCV003122521] Chr9:80881338..80881678 [GRCh37]
Chr9:9q21.2		 uncertain significance
NC_000009.11:g.(?_80854919)_(80856735_?)del deletion not provided [RCV003122522] Chr9:80854919..80856735 [GRCh37]
Chr9:9q21.2		 pathogenic
NC_000009.11:g.(?_80851266)_(80856548_?)del deletion not provided [RCV003122523] Chr9:80851266..80856548 [GRCh37]
Chr9:9q21.2		 pathogenic
GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3 copy number gain See cases [RCV002292402] Chr9:203861..131603223 [GRCh37]
Chr9:9p24.3-q34.11		 pathogenic
NM_001330691.3(CEP78):c.2072A>G (p.Asn691Ser) single nucleotide variant not provided [RCV002263501] Chr9:78266668 [GRCh38]
Chr9:80881584 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.1102A>G (p.Arg368Gly) single nucleotide variant not provided [RCV002297263] Chr9:78251940 [GRCh38]
Chr9:80866856 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.479T>C (p.Ile160Thr) single nucleotide variant not provided [RCV002297299] Chr9:78240344 [GRCh38]
Chr9:80855260 [GRCh37]
Chr9:9q21.2		 uncertain significance
GRCh37/hg19 9q21.2(chr9:80582026-80948266)x3 copy number gain not provided [RCV002474803] Chr9:80582026..80948266 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.128T>C (p.Leu43Pro) single nucleotide variant not provided [RCV002301205] Chr9:78236478 [GRCh38]
Chr9:80851394 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.1298C>T (p.Ser433Phe) single nucleotide variant not provided [RCV002296106] Chr9:78254882 [GRCh38]
Chr9:80869798 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.1428A>G (p.Ile476Met) single nucleotide variant not provided [RCV003074310] Chr9:78262954 [GRCh38]
Chr9:80877870 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.1667A>G (p.Asp556Gly) single nucleotide variant not provided [RCV002861267] Chr9:78265413 [GRCh38]
Chr9:80880329 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.1229G>A (p.Arg410His) single nucleotide variant not provided [RCV002681570] Chr9:78253255 [GRCh38]
Chr9:80868171 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.892+1G>A single nucleotide variant not provided [RCV002905033] Chr9:78246783 [GRCh38]
Chr9:80861699 [GRCh37]
Chr9:9q21.2		 likely pathogenic
NM_001330691.3(CEP78):c.1043A>G (p.His348Arg) single nucleotide variant not provided [RCV002618876] Chr9:78248847 [GRCh38]
Chr9:80863763 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.1147C>T (p.Pro383Ser) single nucleotide variant not provided [RCV002755567] Chr9:78251985 [GRCh38]
Chr9:80866901 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.253+12C>T single nucleotide variant not provided [RCV002618761] Chr9:78236615 [GRCh38]
Chr9:80851531 [GRCh37]
Chr9:9q21.2		 likely benign
NM_001330691.3(CEP78):c.96C>G (p.Pro32=) single nucleotide variant not provided [RCV003035110] Chr9:78236446 [GRCh38]
Chr9:80851362 [GRCh37]
Chr9:9q21.2		 likely benign
NM_001330691.3(CEP78):c.1736C>T (p.Ala579Val) single nucleotide variant Inborn genetic diseases [RCV003250709]|not provided [RCV003073690] Chr9:78265482 [GRCh38]
Chr9:80880398 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.499+19del deletion not provided [RCV002862360] Chr9:78240381 [GRCh38]
Chr9:80855297 [GRCh37]
Chr9:9q21.2		 likely benign
NM_001330691.3(CEP78):c.1205+20T>C single nucleotide variant not provided [RCV002995039] Chr9:78252063 [GRCh38]
Chr9:80866979 [GRCh37]
Chr9:9q21.2		 likely benign
NM_001330691.3(CEP78):c.377dup (p.Leu127fs) duplication not provided [RCV002617249] Chr9:78240145..78240146 [GRCh38]
Chr9:80855061..80855062 [GRCh37]
Chr9:9q21.2		 pathogenic
NM_001330691.3(CEP78):c.1902C>G (p.Val634=) single nucleotide variant not provided [RCV002995327] Chr9:78266498 [GRCh38]
Chr9:80881414 [GRCh37]
Chr9:9q21.2		 likely benign
NM_001330691.3(CEP78):c.1554A>T (p.Glu518Asp) single nucleotide variant not provided [RCV002750946] Chr9:78264245 [GRCh38]
Chr9:80879161 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.538A>G (p.Thr180Ala) single nucleotide variant not provided [RCV002750641] Chr9:78241734 [GRCh38]
Chr9:80856650 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.1251+10T>C single nucleotide variant not provided [RCV002908373] Chr9:78253287 [GRCh38]
Chr9:80868203 [GRCh37]
Chr9:9q21.2		 likely benign
NM_001330691.3(CEP78):c.228C>T (p.Phe76=) single nucleotide variant not provided [RCV002882138] Chr9:78236578 [GRCh38]
Chr9:80851494 [GRCh37]
Chr9:9q21.2		 likely benign
NM_001330691.3(CEP78):c.1A>T (p.Met1Leu) single nucleotide variant not provided [RCV002861988] Chr9:78236351 [GRCh38]
Chr9:80851267 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.500-20G>A single nucleotide variant not provided [RCV002871232] Chr9:78241676 [GRCh38]
Chr9:80856592 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.500-10T>C single nucleotide variant not provided [RCV002622967] Chr9:78241686 [GRCh38]
Chr9:80856602 [GRCh37]
Chr9:9q21.2		 likely benign
NM_001330691.3(CEP78):c.1454G>A (p.Ser485Asn) single nucleotide variant not provided [RCV002824357] Chr9:78262980 [GRCh38]
Chr9:80877896 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.73C>G (p.Leu25Val) single nucleotide variant Inborn genetic diseases [RCV002798659] Chr9:78236423 [GRCh38]
Chr9:80851339 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.1995T>G (p.Ile665Met) single nucleotide variant not provided [RCV003003315] Chr9:78266591 [GRCh38]
Chr9:80881507 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.128T>G (p.Leu43Arg) single nucleotide variant not provided [RCV002760416] Chr9:78236478 [GRCh38]
Chr9:80851394 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.344G>A (p.Cys115Tyr) single nucleotide variant not provided [RCV002909390] Chr9:78240113 [GRCh38]
Chr9:80855029 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.912A>C (p.Ala304=) single nucleotide variant not provided [RCV003019738] Chr9:78248310 [GRCh38]
Chr9:80863226 [GRCh37]
Chr9:9q21.2		 likely benign
NM_001330691.3(CEP78):c.253+11C>A single nucleotide variant not provided [RCV003021743] Chr9:78236614 [GRCh38]
Chr9:80851530 [GRCh37]
Chr9:9q21.2		 likely benign
NM_001330691.3(CEP78):c.1381-16del deletion not provided [RCV002912555] Chr9:78262889 [GRCh38]
Chr9:80877805 [GRCh37]
Chr9:9q21.2		 likely benign
NM_001330691.3(CEP78):c.586A>G (p.Met196Val) single nucleotide variant not provided [RCV002796359] Chr9:78241782 [GRCh38]
Chr9:80856698 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.1467T>C (p.His489=) single nucleotide variant not provided [RCV002735142] Chr9:78264158 [GRCh38]
Chr9:80879074 [GRCh37]
Chr9:9q21.2		 likely benign
NM_001330691.3(CEP78):c.808A>T (p.Asn270Tyr) single nucleotide variant not provided [RCV002847536] Chr9:78246698 [GRCh38]
Chr9:80861614 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.207C>T (p.Pro69=) single nucleotide variant not provided [RCV002760870] Chr9:78236557 [GRCh38]
Chr9:80851473 [GRCh37]
Chr9:9q21.2		 likely benign
NM_001330691.3(CEP78):c.1109A>C (p.His370Pro) single nucleotide variant not provided [RCV002999858] Chr9:78251947 [GRCh38]
Chr9:80866863 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.1217T>C (p.Leu406Ser) single nucleotide variant not provided [RCV003036674] Chr9:78253243 [GRCh38]
Chr9:80868159 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.334C>T (p.Leu112Phe) single nucleotide variant not provided [RCV002622310] Chr9:78240103 [GRCh38]
Chr9:80855019 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.1381-8A>G single nucleotide variant not provided [RCV002976623] Chr9:78262899 [GRCh38]
Chr9:80877815 [GRCh37]
Chr9:9q21.2		 likely benign
NM_001330691.3(CEP78):c.543C>G (p.Val181=) single nucleotide variant not provided [RCV002846790] Chr9:78241739 [GRCh38]
Chr9:80856655 [GRCh37]
Chr9:9q21.2		 likely benign
NM_001330691.3(CEP78):c.1841T>C (p.Met614Thr) single nucleotide variant Inborn genetic diseases [RCV004067662]|not provided [RCV002706311] Chr9:78265902 [GRCh38]
Chr9:80880818 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.1292dup (p.Ser432fs) duplication not provided [RCV003002612] Chr9:78254875..78254876 [GRCh38]
Chr9:80869791..80869792 [GRCh37]
Chr9:9q21.2		 pathogenic
NM_001330691.3(CEP78):c.1350G>A (p.Glu450=) single nucleotide variant not provided [RCV002706324] Chr9:78254934 [GRCh38]
Chr9:80869850 [GRCh37]
Chr9:9q21.2		 likely benign
NM_001330691.3(CEP78):c.1178G>A (p.Arg393His) single nucleotide variant not provided [RCV002622650] Chr9:78252016 [GRCh38]
Chr9:80866932 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.341G>A (p.Gly114Asp) single nucleotide variant Inborn genetic diseases [RCV002982910]|not provided [RCV002998678] Chr9:78240110 [GRCh38]
Chr9:80855026 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.1754C>G (p.Pro585Arg) single nucleotide variant not provided [RCV003020321] Chr9:78265500 [GRCh38]
Chr9:80880416 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.697A>T (p.Thr233Ser) single nucleotide variant not provided [RCV003020345] Chr9:78243555 [GRCh38]
Chr9:80858471 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.225C>T (p.Ser75=) single nucleotide variant not provided [RCV002695446] Chr9:78236575 [GRCh38]
Chr9:80851491 [GRCh37]
Chr9:9q21.2		 likely benign
NM_001330691.3(CEP78):c.725A>C (p.Asp242Ala) single nucleotide variant not provided [RCV003035741] Chr9:78243583 [GRCh38]
Chr9:80858499 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.54C>T (p.His18=) single nucleotide variant not provided [RCV003037549] Chr9:78236404 [GRCh38]
Chr9:80851320 [GRCh37]
Chr9:9q21.2		 likely benign
NM_001330691.3(CEP78):c.1113C>T (p.Ser371=) single nucleotide variant not provided [RCV002795954] Chr9:78251951 [GRCh38]
Chr9:80866867 [GRCh37]
Chr9:9q21.2		 likely benign
NM_001330691.3(CEP78):c.352A>G (p.Ile118Val) single nucleotide variant not provided [RCV002645750] Chr9:78240121 [GRCh38]
Chr9:80855037 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.1489A>G (p.Ile497Val) single nucleotide variant not provided [RCV002667978] Chr9:78264180 [GRCh38]
Chr9:80879096 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.1741G>A (p.Glu581Lys) single nucleotide variant not provided [RCV003059423] Chr9:78265487 [GRCh38]
Chr9:80880403 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.1070-2A>G single nucleotide variant not provided [RCV002597301] Chr9:78251906 [GRCh38]
Chr9:80866822 [GRCh37]
Chr9:9q21.2		 likely benign
NM_001330691.3(CEP78):c.1561T>C (p.Leu521=) single nucleotide variant not provided [RCV003008258] Chr9:78264252 [GRCh38]
Chr9:80879168 [GRCh37]
Chr9:9q21.2		 likely benign
NM_001330691.3(CEP78):c.350G>A (p.Ser117Asn) single nucleotide variant not provided [RCV002745471] Chr9:78240119 [GRCh38]
Chr9:80855035 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.445T>G (p.Ser149Ala) single nucleotide variant Inborn genetic diseases [RCV002850737] Chr9:78240310 [GRCh38]
Chr9:80855226 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.1098T>G (p.Ser366Arg) single nucleotide variant not provided [RCV002958795] Chr9:78251936 [GRCh38]
Chr9:80866852 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.1590G>A (p.Lys530=) single nucleotide variant not provided [RCV002710383] Chr9:78264281 [GRCh38]
Chr9:80879197 [GRCh37]
Chr9:9q21.2		 likely benign
NM_001330691.3(CEP78):c.889A>G (p.Ile297Val) single nucleotide variant not provided [RCV003081988] Chr9:78246779 [GRCh38]
Chr9:80861695 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.1166T>G (p.Phe389Cys) single nucleotide variant not provided [RCV002700180] Chr9:78252004 [GRCh38]
Chr9:80866920 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.1221C>T (p.Ile407=) single nucleotide variant not provided [RCV002852651] Chr9:78253247 [GRCh38]
Chr9:80868163 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.2064G>C (p.Leu688Phe) single nucleotide variant not provided [RCV002828259] Chr9:78266660 [GRCh38]
Chr9:80881576 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.1690C>A (p.Gln564Lys) single nucleotide variant not provided [RCV002711352] Chr9:78265436 [GRCh38]
Chr9:80880352 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.1458+14T>C single nucleotide variant not provided [RCV002741515] Chr9:78262998 [GRCh38]
Chr9:80877914 [GRCh37]
Chr9:9q21.2		 likely benign
NM_001330691.3(CEP78):c.657G>A (p.Arg219=) single nucleotide variant not provided [RCV002700398] Chr9:78243515 [GRCh38]
Chr9:80858431 [GRCh37]
Chr9:9q21.2		 likely benign
NM_001330691.3(CEP78):c.1205+8A>G single nucleotide variant not provided [RCV002872407] Chr9:78252051 [GRCh38]
Chr9:80866967 [GRCh37]
Chr9:9q21.2		 likely benign
NM_001330691.3(CEP78):c.655A>G (p.Arg219Gly) single nucleotide variant Inborn genetic diseases [RCV003004448] Chr9:78243513 [GRCh38]
Chr9:80858429 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.616A>G (p.Arg206Gly) single nucleotide variant not provided [RCV002791189] Chr9:78243474 [GRCh38]
Chr9:80858390 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.892+14A>G single nucleotide variant not provided [RCV002700234] Chr9:78246796 [GRCh38]
Chr9:80861712 [GRCh37]
Chr9:9q21.2		 likely benign
NM_001330691.3(CEP78):c.486T>G (p.Asp162Glu) single nucleotide variant not provided [RCV002741865] Chr9:78240351 [GRCh38]
Chr9:80855267 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.768A>G (p.Leu256=) single nucleotide variant not provided [RCV002626552] Chr9:78243626 [GRCh38]
Chr9:80858542 [GRCh37]
Chr9:9q21.2		 likely benign
NM_001330691.3(CEP78):c.455A>G (p.His152Arg) single nucleotide variant not provided [RCV002786301] Chr9:78240320 [GRCh38]
Chr9:80855236 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.1736C>A (p.Ala579Glu) single nucleotide variant not provided [RCV003057489] Chr9:78265482 [GRCh38]
Chr9:80880398 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.543_556del (p.Val181_Asn182insTer) deletion not provided [RCV003040631] Chr9:78241738..78241751 [GRCh38]
Chr9:80856654..80856667 [GRCh37]
Chr9:9q21.2		 pathogenic
NM_001330691.3(CEP78):c.2031T>C (p.Ser677=) single nucleotide variant not provided [RCV003023908] Chr9:78266627 [GRCh38]
Chr9:80881543 [GRCh37]
Chr9:9q21.2		 likely benign
NM_001330691.3(CEP78):c.90G>T (p.Pro30=) single nucleotide variant not provided [RCV003023235] Chr9:78236440 [GRCh38]
Chr9:80851356 [GRCh37]
Chr9:9q21.2		 likely benign
NM_001330691.3(CEP78):c.842A>T (p.Glu281Val) single nucleotide variant not provided [RCV002918287] Chr9:78246732 [GRCh38]
Chr9:80861648 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.649C>T (p.Arg217Cys) single nucleotide variant not provided [RCV002626206] Chr9:78243507 [GRCh38]
Chr9:80858423 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.130G>T (p.Asp44Tyr) single nucleotide variant not provided [RCV003042244] Chr9:78236480 [GRCh38]
Chr9:80851396 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.680C>T (p.Ala227Val) single nucleotide variant not provided [RCV002954079] Chr9:78243538 [GRCh38]
Chr9:80858454 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.898T>G (p.Ser300Ala) single nucleotide variant not provided [RCV002701260] Chr9:78248296 [GRCh38]
Chr9:80863212 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.1645A>C (p.Met549Leu) single nucleotide variant not provided [RCV002932111] Chr9:78265391 [GRCh38]
Chr9:80880307 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.566C>T (p.Thr189Ile) single nucleotide variant not provided [RCV003048012] Chr9:78241762 [GRCh38]
Chr9:80856678 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.493T>G (p.Leu165Val) single nucleotide variant not provided [RCV003049409] Chr9:78240358 [GRCh38]
Chr9:80855274 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.1804A>G (p.Ile602Val) single nucleotide variant Inborn genetic diseases [RCV004066893]|not provided [RCV002676586] Chr9:78265865 [GRCh38]
Chr9:80880781 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.893-8T>G single nucleotide variant not provided [RCV002856865] Chr9:78248283 [GRCh38]
Chr9:80863199 [GRCh37]
Chr9:9q21.2		 likely benign
NM_001330691.3(CEP78):c.2034A>G (p.Gly678=) single nucleotide variant not provided [RCV002792166] Chr9:78266630 [GRCh38]
Chr9:80881546 [GRCh37]
Chr9:9q21.2		 likely benign
NM_001330691.3(CEP78):c.219C>T (p.Ile73=) single nucleotide variant not provided [RCV002672036] Chr9:78236569 [GRCh38]
Chr9:80851485 [GRCh37]
Chr9:9q21.2		 likely benign
NM_001330691.3(CEP78):c.1205+2T>A single nucleotide variant not provided [RCV003008485] Chr9:78252045 [GRCh38]
Chr9:80866961 [GRCh37]
Chr9:9q21.2		 likely pathogenic
NM_001330691.3(CEP78):c.1698_1701del (p.Ser567fs) deletion not provided [RCV003088048] Chr9:78265444..78265447 [GRCh38]
Chr9:80880360..80880363 [GRCh37]
Chr9:9q21.2		 pathogenic
NM_001330691.3(CEP78):c.748G>T (p.Asp250Tyr) single nucleotide variant not provided [RCV002577068] Chr9:78243606 [GRCh38]
Chr9:80858522 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.1069G>T (p.Gly357Ter) single nucleotide variant not provided [RCV002630459] Chr9:78248873 [GRCh38]
Chr9:80863789 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.1010A>G (p.Gln337Arg) single nucleotide variant Inborn genetic diseases [RCV002855668] Chr9:78248814 [GRCh38]
Chr9:80863730 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.1380+18dup duplication not provided [RCV002577503] Chr9:78254979..78254980 [GRCh38]
Chr9:80869895..80869896 [GRCh37]
Chr9:9q21.2		 benign
NM_001330691.3(CEP78):c.697A>G (p.Thr233Ala) single nucleotide variant not provided [RCV003044508] Chr9:78243555 [GRCh38]
Chr9:80858471 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.681T>A (p.Ala227=) single nucleotide variant not provided [RCV002934071] Chr9:78243539 [GRCh38]
Chr9:80858455 [GRCh37]
Chr9:9q21.2		 likely benign|uncertain significance
NM_001330691.3(CEP78):c.1845+3A>G single nucleotide variant not provided [RCV003044650] Chr9:78265909 [GRCh38]
Chr9:80880825 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.1736C>G (p.Ala579Gly) single nucleotide variant not provided [RCV002720271] Chr9:78265482 [GRCh38]
Chr9:80880398 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.534T>G (p.Leu178=) single nucleotide variant not provided [RCV002579905] Chr9:78241730 [GRCh38]
Chr9:80856646 [GRCh37]
Chr9:9q21.2		 likely benign
NM_001330691.3(CEP78):c.2003T>C (p.Met668Thr) single nucleotide variant not provided [RCV003045226] Chr9:78266599 [GRCh38]
Chr9:80881515 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.861C>T (p.Val287=) single nucleotide variant not provided [RCV002933813] Chr9:78246751 [GRCh38]
Chr9:80861667 [GRCh37]
Chr9:9q21.2		 likely benign
NM_001330691.3(CEP78):c.718A>G (p.Ile240Val) single nucleotide variant Inborn genetic diseases [RCV002855446] Chr9:78243576 [GRCh38]
Chr9:80858492 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.1165T>C (p.Phe389Leu) single nucleotide variant not provided [RCV002602353] Chr9:78252003 [GRCh38]
Chr9:80866919 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.1812G>A (p.Met604Ile) single nucleotide variant not provided [RCV003027481] Chr9:78265873 [GRCh38]
Chr9:80880789 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.58G>A (p.Glu20Lys) single nucleotide variant not provided [RCV003010382] Chr9:78236408 [GRCh38]
Chr9:80851324 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.39G>A (p.Ala13=) single nucleotide variant not provided [RCV002635808] Chr9:78236389 [GRCh38]
Chr9:80851305 [GRCh37]
Chr9:9q21.2		 likely benign
NM_001330691.3(CEP78):c.1346C>T (p.Pro449Leu) single nucleotide variant not provided [RCV002585676] Chr9:78254930 [GRCh38]
Chr9:80869846 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.1950A>G (p.Gly650=) single nucleotide variant not provided [RCV002607445] Chr9:78266546 [GRCh38]
Chr9:80881462 [GRCh37]
Chr9:9q21.2		 likely benign
NM_001330691.3(CEP78):c.1650T>G (p.Ala550=) single nucleotide variant not provided [RCV002608527] Chr9:78265396 [GRCh38]
Chr9:80880312 [GRCh37]
Chr9:9q21.2		 likely benign
NM_001330691.3(CEP78):c.1626-7C>T single nucleotide variant not provided [RCV002605835] Chr9:78265365 [GRCh38]
Chr9:80880281 [GRCh37]
Chr9:9q21.2		 likely benign
NM_001330691.3(CEP78):c.2107+39G>A single nucleotide variant not provided [RCV002587331] Chr9:78266742 [GRCh38]
Chr9:80881658 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.169C>T (p.Pro57Ser) single nucleotide variant Inborn genetic diseases [RCV002723773]|not provided [RCV003777687] Chr9:78236519 [GRCh38]
Chr9:80851435 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.140C>G (p.Ala47Gly) single nucleotide variant not provided [RCV002609984] Chr9:78236490 [GRCh38]
Chr9:80851406 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.1380+14A>G single nucleotide variant not provided [RCV002721485] Chr9:78254978 [GRCh38]
Chr9:80869894 [GRCh37]
Chr9:9q21.2		 likely benign
NM_001330691.3(CEP78):c.1369G>T (p.Glu457Ter) single nucleotide variant Cone-rod dystrophy and hearing loss 1 [RCV003222499] Chr9:78254953 [GRCh38]
Chr9:80869869 [GRCh37]
Chr9:9q21.2		 pathogenic
GRCh38/hg38 9q21.2(chr9:78235965-78243734)x1 copy number loss Cone-rod dystrophy and hearing loss 1 [RCV003327694] Chr9:78235965..78243734 [GRCh38]
Chr9:9q21.2		 likely pathogenic
NM_001330691.3(CEP78):c.661_665del (p.Pro221fs) deletion not provided [RCV003831020] Chr9:78243517..78243521 [GRCh38]
Chr9:80858433..80858437 [GRCh37]
Chr9:9q21.2		 pathogenic
NM_001330691.3(CEP78):c.711del (p.Asn237fs) deletion not provided [RCV003714368] Chr9:78243569 [GRCh38]
Chr9:80858485 [GRCh37]
Chr9:9q21.2		 pathogenic
NM_001330691.3(CEP78):c.333T>C (p.Ala111=) single nucleotide variant not provided [RCV003692201] Chr9:78240102 [GRCh38]
Chr9:80855018 [GRCh37]
Chr9:9q21.2		 likely benign
NM_001330691.3(CEP78):c.1251+14A>G single nucleotide variant not provided [RCV003829719] Chr9:78253291 [GRCh38]
Chr9:80868207 [GRCh37]
Chr9:9q21.2		 likely benign
NM_001330691.3(CEP78):c.892+2T>A single nucleotide variant not provided [RCV003577690] Chr9:78246784 [GRCh38]
Chr9:80861700 [GRCh37]
Chr9:9q21.2		 likely pathogenic
NM_001330691.3(CEP78):c.1649_1653dup (p.Ile552fs) duplication not provided [RCV003547081] Chr9:78265392..78265393 [GRCh38]
Chr9:80880308..80880309 [GRCh37]
Chr9:9q21.2		 pathogenic
NM_001330691.3(CEP78):c.427-11C>G single nucleotide variant not provided [RCV003714600] Chr9:78240281 [GRCh38]
Chr9:80855197 [GRCh37]
Chr9:9q21.2		 likely benign
NM_001330691.3(CEP78):c.349_352del (p.Ser117fs) deletion not provided [RCV003547888] Chr9:78240116..78240119 [GRCh38]
Chr9:80855032..80855035 [GRCh37]
Chr9:9q21.2		 pathogenic
NM_001330691.3(CEP78):c.779-14T>G single nucleotide variant not provided [RCV003547368] Chr9:78246655 [GRCh38]
Chr9:80861571 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.957+20T>C single nucleotide variant not provided [RCV003840132] Chr9:78248375 [GRCh38]
Chr9:80863291 [GRCh37]
Chr9:9q21.2		 likely benign
NM_001330691.3(CEP78):c.892+7C>G single nucleotide variant not provided [RCV003817574] Chr9:78246789 [GRCh38]
Chr9:80861705 [GRCh37]
Chr9:9q21.2		 likely benign
NM_001330691.3(CEP78):c.90G>A (p.Pro30=) single nucleotide variant not provided [RCV003838233] Chr9:78236440 [GRCh38]
Chr9:80851356 [GRCh37]
Chr9:9q21.2		 likely benign
NM_001330691.3(CEP78):c.90G>C (p.Pro30=) single nucleotide variant not provided [RCV003659644] Chr9:78236440 [GRCh38]
Chr9:80851356 [GRCh37]
Chr9:9q21.2		 likely benign
NM_001330691.3(CEP78):c.1327G>T (p.Glu443Ter) single nucleotide variant not provided [RCV003551999] Chr9:78254911 [GRCh38]
Chr9:80869827 [GRCh37]
Chr9:9q21.2		 pathogenic
NM_001330691.3(CEP78):c.1285_1288dup (p.Pro430fs) duplication not provided [RCV003562326] Chr9:78254868..78254869 [GRCh38]
Chr9:80869784..80869785 [GRCh37]
Chr9:9q21.2		 pathogenic
NM_001330691.3(CEP78):c.958-3del deletion not provided [RCV003680537] Chr9:78248756 [GRCh38]
Chr9:80863672 [GRCh37]
Chr9:9q21.2		 benign
NM_001330691.3(CEP78):c.1550A>G (p.Asp517Gly) single nucleotide variant not provided [RCV003844834] Chr9:78264241 [GRCh38]
Chr9:80879157 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.1797+15C>T single nucleotide variant not provided [RCV003676135] Chr9:78265558 [GRCh38]
Chr9:80880474 [GRCh37]
Chr9:9q21.2		 likely benign
NM_001330691.3(CEP78):c.64C>T (p.Leu22=) single nucleotide variant not provided [RCV003705833] Chr9:78236414 [GRCh38]
Chr9:80851330 [GRCh37]
Chr9:9q21.2		 likely benign
NM_001330691.3(CEP78):c.878A>G (p.Lys293Arg) single nucleotide variant not provided [RCV003868291] Chr9:78246768 [GRCh38]
Chr9:80861684 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.99C>T (p.Ala33=) single nucleotide variant not provided [RCV003869121] Chr9:78236449 [GRCh38]
Chr9:80851365 [GRCh37]
Chr9:9q21.2		 likely benign
NM_001330691.3(CEP78):c.957+14T>C single nucleotide variant not provided [RCV003859371] Chr9:78248369 [GRCh38]
Chr9:80863285 [GRCh37]
Chr9:9q21.2		 likely benign
NM_001330691.3(CEP78):c.892+16A>G single nucleotide variant not provided [RCV003857117] Chr9:78246798 [GRCh38]
Chr9:80861714 [GRCh37]
Chr9:9q21.2		 likely benign
NM_001330691.3(CEP78):c.144C>T (p.Asp48=) single nucleotide variant not provided [RCV003870154] Chr9:78236494 [GRCh38]
Chr9:80851410 [GRCh37]
Chr9:9q21.2		 likely benign
NM_001330691.3(CEP78):c.1206-10A>G single nucleotide variant not provided [RCV003684463] Chr9:78253222 [GRCh38]
Chr9:80868138 [GRCh37]
Chr9:9q21.2		 likely benign
NM_001330691.3(CEP78):c.1206-2A>G single nucleotide variant not provided [RCV003870125] Chr9:78253230 [GRCh38]
Chr9:80868146 [GRCh37]
Chr9:9q21.2		 pathogenic
NM_001330691.3(CEP78):c.1205+10T>A single nucleotide variant not provided [RCV003542167] Chr9:78252053 [GRCh38]
Chr9:80866969 [GRCh37]
Chr9:9q21.2		 likely benign
NM_001330691.3(CEP78):c.1206-13G>A single nucleotide variant not provided [RCV003844210] Chr9:78253219 [GRCh38]
Chr9:80868135 [GRCh37]
Chr9:9q21.2		 likely benign
NM_001330691.3(CEP78):c.1205+13del deletion not provided [RCV003843357] Chr9:78252052 [GRCh38]
Chr9:80866968 [GRCh37]
Chr9:9q21.2		 benign
NM_001330691.3(CEP78):c.1554del (p.Gly519fs) deletion not provided [RCV003563762] Chr9:78264244 [GRCh38]
Chr9:80879160 [GRCh37]
Chr9:9q21.2		 pathogenic
NM_001330691.3(CEP78):c.1273G>T (p.Val425Leu) single nucleotide variant not provided [RCV003563970] Chr9:78254857 [GRCh38]
Chr9:80869773 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.2107+23T>A single nucleotide variant not provided [RCV003552387] Chr9:78266726 [GRCh38]
Chr9:80881642 [GRCh37]
Chr9:9q21.2		 likely benign
NM_001330691.3(CEP78):c.120G>A (p.Glu40=) single nucleotide variant CEP78-related condition [RCV003969598] Chr9:78236470 [GRCh38]
Chr9:80851386 [GRCh37]
Chr9:9q21.2		 likely benign
NM_001330691.3(CEP78):c.1137C>G (p.Pro379=) single nucleotide variant CEP78-related condition [RCV003981539] Chr9:78251975 [GRCh38]
Chr9:80866891 [GRCh37]
Chr9:9q21.2		 likely benign
NM_001330691.3(CEP78):c.368A>G (p.Lys123Arg) single nucleotide variant Inborn genetic diseases [RCV004428420] Chr9:78240137 [GRCh38]
Chr9:80855053 [GRCh37]
Chr9:9q21.2		 likely benign
NM_001330691.3(CEP78):c.1331G>C (p.Ser444Thr) single nucleotide variant Inborn genetic diseases [RCV004428417] Chr9:78254915 [GRCh38]
Chr9:80869831 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.80A>G (p.Asn27Ser) single nucleotide variant Inborn genetic diseases [RCV004428424] Chr9:78236430 [GRCh38]
Chr9:80851346 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.666T>A (p.Asp222Glu) single nucleotide variant Inborn genetic diseases [RCV004428423] Chr9:78243524 [GRCh38]
Chr9:80858440 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.2107+37C>G single nucleotide variant Inborn genetic diseases [RCV004428418] Chr9:78266740 [GRCh38]
Chr9:80881656 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.284G>C (p.Arg95Pro) single nucleotide variant Inborn genetic diseases [RCV004428419] Chr9:78240053 [GRCh38]
Chr9:80854969 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.565A>G (p.Thr189Ala) single nucleotide variant Inborn genetic diseases [RCV004428421] Chr9:78241761 [GRCh38]
Chr9:80856677 [GRCh37]
Chr9:9q21.2		 uncertain significance
GRCh37/hg19 9q21.2-22.32(chr9:79520825-97201274) copy number gain not provided [RCV000767645] Chr9:79520825..97201274 [GRCh37]
Chr9:9q21.2-22.32		 pathogenic
NM_001330691.3(CEP78):c.896A>T (p.His299Leu) single nucleotide variant not provided [RCV002675519] Chr9:78248294 [GRCh38]
Chr9:80863210 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_001330691.3(CEP78):c.1702A>G (p.Thr568Ala) single nucleotide variant Inborn genetic diseases [RCV003357331] Chr9:78265448 [GRCh38]
Chr9:80880364 [GRCh37]
Chr9:9q21.2		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:4115
Count of miRNA genes:1342
Interacting mature miRNAs:1757
Transcripts:ENST00000277082, ENST00000376597, ENST00000376598, ENST00000415759, ENST00000424347, ENST00000447629, ENST00000459817, ENST00000476652, ENST00000487108, ENST00000498582, ENST00000536374
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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

Markers in Region
D9S1980  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37980,881,715 - 80,881,915UniSTSGRCh37
Build 36980,071,535 - 80,071,735RGDNCBI36
Celera951,458,985 - 51,459,185RGD
Cytogenetic Map9q21.2UniSTS
HuRef950,712,809 - 50,713,009UniSTS
GeneMap99-GB4 RH Map9266.11UniSTS
Whitehead-RH Map9308.8UniSTS
Whitehead-YAC Contig Map9 UniSTS
NCBI RH Map9720.5UniSTS
RH78042  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37980,886,451 - 80,886,536UniSTSGRCh37
Build 36980,076,271 - 80,076,356RGDNCBI36
Celera951,463,721 - 51,463,806RGD
Cytogenetic Map9q21.2UniSTS
HuRef950,717,545 - 50,717,630UniSTS
GeneMap99-GB4 RH Map9266.32UniSTS
NCBI RH Map9707.3UniSTS
A008B24  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37980,881,714 - 80,881,827UniSTSGRCh37
Build 36980,071,534 - 80,071,647RGDNCBI36
Celera951,458,984 - 51,459,097RGD
Cytogenetic Map9q21.2UniSTS
HuRef950,712,808 - 50,712,921UniSTS
GeneMap99-GB4 RH Map9266.5UniSTS


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 85 28 26 17 345 18 224 43 171 43 244 167 9 1 2
Low 2353 2572 1693 602 1455 442 3948 1768 3558 374 1216 1446 166 1202 2606 4 2
Below cutoff 1 391 7 5 151 5 184 386 5 2 2 182

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_053171 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001098802 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001330691 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001330693 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001330694 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001349838 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001349839 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001349840 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_032171 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005252266 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017015196 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423955 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363952 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AK022705 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK303457 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL353705 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC058931 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC091515 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC128058 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BE267999 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BE502367 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG287960 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM759819 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA429071 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB241629 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471089 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068269 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA935092 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA970400 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DR156359 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000277082   ⟹   ENSP00000277082
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl978,236,232 - 78,267,067 (+)Ensembl
RefSeq Acc Id: ENST00000376597   ⟹   ENSP00000365782
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl978,236,207 - 78,267,075 (+)Ensembl
RefSeq Acc Id: ENST00000376598   ⟹   ENSP00000365783
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl978,236,351 - 78,271,177 (+)Ensembl
RefSeq Acc Id: ENST00000415759   ⟹   ENSP00000399286
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl978,236,162 - 78,267,075 (+)Ensembl
RefSeq Acc Id: ENST00000424347   ⟹   ENSP00000411284
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl978,236,062 - 78,279,690 (+)Ensembl
RefSeq Acc Id: ENST00000447629
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl978,264,050 - 78,271,883 (+)Ensembl
RefSeq Acc Id: ENST00000459817
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl978,254,703 - 78,265,401 (+)Ensembl
RefSeq Acc Id: ENST00000476652
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl978,236,141 - 78,266,787 (+)Ensembl
RefSeq Acc Id: ENST00000487108
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl978,253,307 - 78,264,228 (+)Ensembl
RefSeq Acc Id: ENST00000498582
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl978,254,474 - 78,264,241 (+)Ensembl
RefSeq Acc Id: ENST00000536374
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl978,236,081 - 78,250,453 (+)Ensembl
RefSeq Acc Id: ENST00000642214   ⟹   ENSP00000493662
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl978,236,297 - 78,266,802 (+)Ensembl
RefSeq Acc Id: ENST00000642654   ⟹   ENSP00000495267
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl978,236,101 - 78,271,245 (+)Ensembl
RefSeq Acc Id: ENST00000642669   ⟹   ENSP00000495681
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl978,236,270 - 78,266,931 (+)Ensembl
RefSeq Acc Id: ENST00000643273   ⟹   ENSP00000496423
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl978,236,075 - 78,279,690 (+)Ensembl
RefSeq Acc Id: ENST00000643347   ⟹   ENSP00000494781
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl978,236,072 - 78,267,025 (+)Ensembl
RefSeq Acc Id: ENST00000643499   ⟹   ENSP00000495962
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl978,236,108 - 78,267,004 (+)Ensembl
RefSeq Acc Id: ENST00000643847   ⟹   ENSP00000494276
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl978,236,105 - 78,271,676 (+)Ensembl
RefSeq Acc Id: ENST00000644208   ⟹   ENSP00000493600
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl978,236,334 - 78,266,726 (+)Ensembl
RefSeq Acc Id: ENST00000645398   ⟹   ENSP00000493822
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl978,236,065 - 78,266,994 (+)Ensembl
RefSeq Acc Id: ENST00000645865   ⟹   ENSP00000494841
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl978,236,080 - 78,273,565 (+)Ensembl
RefSeq Acc Id: ENST00000646288   ⟹   ENSP00000496131
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl978,236,351 - 78,266,988 (+)Ensembl
RefSeq Acc Id: ENST00000647130   ⟹   ENSP00000496303
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl978,236,372 - 78,266,564 (+)Ensembl
RefSeq Acc Id: ENST00000647199   ⟹   ENSP00000496384
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl978,236,080 - 78,271,648 (+)Ensembl
RefSeq Acc Id: NM_001098802   ⟹   NP_001092272
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38978,236,075 - 78,267,075 (+)NCBI
GRCh37980,850,978 - 80,886,799 (+)NCBI
Build 36980,040,811 - 80,071,803 (+)NCBI Archive
Celera951,428,255 - 51,459,253 (+)RGD
HuRef950,682,081 - 50,713,077 (+)RGD
CHM1_1980,998,372 - 81,029,632 (+)NCBI
T2T-CHM13v2.0990,393,203 - 90,424,216 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001330691   ⟹   NP_001317620
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38978,236,075 - 78,279,690 (+)NCBI
T2T-CHM13v2.0990,393,203 - 90,436,832 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001330693   ⟹   NP_001317622
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38978,236,075 - 78,279,690 (+)NCBI
T2T-CHM13v2.0990,393,203 - 90,436,832 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001330694   ⟹   NP_001317623
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38978,236,075 - 78,267,075 (+)NCBI
T2T-CHM13v2.0990,393,203 - 90,424,216 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001349838   ⟹   NP_001336767
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38978,236,075 - 78,267,075 (+)NCBI
T2T-CHM13v2.0990,393,203 - 90,424,216 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001349839   ⟹   NP_001336768
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38978,236,075 - 78,279,690 (+)NCBI
T2T-CHM13v2.0990,393,203 - 90,436,832 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001349840   ⟹   NP_001336769
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38978,236,075 - 78,279,690 (+)NCBI
T2T-CHM13v2.0990,393,203 - 90,436,832 (+)NCBI
Sequence:
RefSeq Acc Id: NM_032171   ⟹   NP_115547
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38978,236,075 - 78,267,075 (+)NCBI
GRCh37980,850,978 - 80,886,799 (+)NCBI
Build 36980,040,811 - 80,071,803 (+)NCBI Archive
Celera951,428,255 - 51,459,253 (+)RGD
HuRef950,682,081 - 50,713,077 (+)RGD
CHM1_1980,998,372 - 81,029,632 (+)NCBI
T2T-CHM13v2.0990,393,203 - 90,424,216 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047423955   ⟹   XP_047279911
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38978,236,075 - 78,250,505 (+)NCBI
RefSeq Acc Id: XM_054363952   ⟹   XP_054219927
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0990,393,203 - 90,407,648 (+)NCBI
Reference Protein Sequences
RefSeq Acc Id: NP_001092272   ⟸   NM_001098802
- Peptide Label: isoform a
- UniProtKB: A0A2R8Y7A4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_115547   ⟸   NM_032171
- Peptide Label: isoform b
- UniProtKB: A0A2R8Y5W6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001336768   ⟸   NM_001349839
- Peptide Label: isoform g
- UniProtKB: A0A2U3TZI9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001336769   ⟸   NM_001349840
- Peptide Label: isoform h
- UniProtKB: A0A2R8Y7U5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001317620   ⟸   NM_001330691
- Peptide Label: isoform c
- UniProtKB: A0A2U3TZI9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001317622   ⟸   NM_001330693
- Peptide Label: isoform d
- UniProtKB: Q5JTW1 (UniProtKB/Swiss-Prot),   Q5JTW0 (UniProtKB/Swiss-Prot),   Q5BJE3 (UniProtKB/Swiss-Prot),   E9PHX5 (UniProtKB/Swiss-Prot),   A1A4S8 (UniProtKB/Swiss-Prot),   Q9H9N3 (UniProtKB/Swiss-Prot),   Q5JTW2 (UniProtKB/Swiss-Prot),   A0A2R8Y7U5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001336767   ⟸   NM_001349838
- Peptide Label: isoform f
- UniProtKB: A0A2R8YCP0 (UniProtKB/TrEMBL),   A0A2R8Y7A4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001317623   ⟸   NM_001330694
- Peptide Label: isoform e
- UniProtKB: A8MST6 (UniProtKB/TrEMBL),   A0A2R8Y5W6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000411284   ⟸   ENST00000424347
RefSeq Acc Id: ENSP00000399286   ⟸   ENST00000415759
RefSeq Acc Id: ENSP00000365782   ⟸   ENST00000376597
RefSeq Acc Id: ENSP00000365783   ⟸   ENST00000376598
RefSeq Acc Id: ENSP00000493662   ⟸   ENST00000642214
RefSeq Acc Id: ENSP00000495681   ⟸   ENST00000642669
RefSeq Acc Id: ENSP00000495267   ⟸   ENST00000642654
RefSeq Acc Id: ENSP00000494781   ⟸   ENST00000643347
RefSeq Acc Id: ENSP00000496423   ⟸   ENST00000643273
RefSeq Acc Id: ENSP00000495962   ⟸   ENST00000643499
RefSeq Acc Id: ENSP00000494276   ⟸   ENST00000643847
RefSeq Acc Id: ENSP00000493600   ⟸   ENST00000644208
RefSeq Acc Id: ENSP00000277082   ⟸   ENST00000277082
RefSeq Acc Id: ENSP00000494841   ⟸   ENST00000645865
RefSeq Acc Id: ENSP00000493822   ⟸   ENST00000645398
RefSeq Acc Id: ENSP00000496131   ⟸   ENST00000646288
RefSeq Acc Id: ENSP00000496384   ⟸   ENST00000647199
RefSeq Acc Id: ENSP00000496303   ⟸   ENST00000647130
RefSeq Acc Id: XP_047279911   ⟸   XM_047423955
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054219927   ⟸   XM_054363952
- Peptide Label: isoform X1

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q5JTW2-F1-model_v2 AlphaFold Q5JTW2 1-689 view protein structure

Promoters
RGD ID:7215293
Promoter ID:EPDNEW_H13393
Type:initiation region
Name:CEP78_1
Description:centrosomal protein 78
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38978,236,081 - 78,236,141EPDNEW
RGD ID:6807554
Promoter ID:HG_KWN:63750
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000277082
Position:
Human AssemblyChrPosition (strand)Source
Build 36980,040,691 - 80,041,212 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:25740 AgrOrtholog
COSMIC CEP78 COSMIC
Ensembl Genes ENSG00000148019 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000277082 ENTREZGENE
  ENST00000277082.9 UniProtKB/TrEMBL
  ENST00000376597 ENTREZGENE
  ENST00000376597.9 UniProtKB/Swiss-Prot
  ENST00000376598.3 UniProtKB/TrEMBL
  ENST00000415759 ENTREZGENE
  ENST00000415759.6 UniProtKB/Swiss-Prot
  ENST00000424347 ENTREZGENE
  ENST00000424347.6 UniProtKB/Swiss-Prot
  ENST00000642214.1 UniProtKB/TrEMBL
  ENST00000642654.1 UniProtKB/TrEMBL
  ENST00000642669.1 UniProtKB/Swiss-Prot
  ENST00000643273 ENTREZGENE
  ENST00000643273.2 UniProtKB/Swiss-Prot
  ENST00000643347.1 UniProtKB/TrEMBL
  ENST00000643499.1 UniProtKB/TrEMBL
  ENST00000643847.1 UniProtKB/TrEMBL
  ENST00000644208.1 UniProtKB/TrEMBL
  ENST00000645398 ENTREZGENE
  ENST00000645398.1 UniProtKB/TrEMBL
  ENST00000645865.1 UniProtKB/TrEMBL
  ENST00000646288.1 UniProtKB/TrEMBL
  ENST00000647130.1 UniProtKB/TrEMBL
  ENST00000647199.1 UniProtKB/TrEMBL
Gene3D-CATH 3.80.10.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000148019 GTEx
HGNC ID HGNC:25740 ENTREZGENE
Human Proteome Map CEP78 Human Proteome Map
InterPro Cep78 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Leu-rich_rpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LRR_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:84131 UniProtKB/Swiss-Prot
NCBI Gene 84131 ENTREZGENE
OMIM 617110 OMIM
PANTHER CENTROSOMAL PROTEIN OF 78 KDA UniProtKB/Swiss-Prot
  CENTROSOMAL PROTEIN OF 78 KDA UniProtKB/Swiss-Prot
  CENTROSOMAL PROTEIN OF 78 KDA UniProtKB/TrEMBL
  CENTROSOMAL PROTEIN OF 78 KDA UniProtKB/TrEMBL
Pfam LRR_6 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134937066 PharmGKB
PRINTS CENTROSOME78 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART LRR_RI UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP RNI-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A2R8Y432_HUMAN UniProtKB/TrEMBL
  A0A2R8Y4C1_HUMAN UniProtKB/TrEMBL
  A0A2R8Y589_HUMAN UniProtKB/TrEMBL
  A0A2R8Y5W6 ENTREZGENE, UniProtKB/TrEMBL
  A0A2R8Y7A4 ENTREZGENE, UniProtKB/TrEMBL
  A0A2R8Y7M8_HUMAN UniProtKB/TrEMBL
  A0A2R8Y7U5 ENTREZGENE, UniProtKB/TrEMBL
  A0A2R8YCP0 ENTREZGENE, UniProtKB/TrEMBL
  A0A2R8YFB0_HUMAN UniProtKB/TrEMBL
  A0A2U3TZI9 ENTREZGENE, UniProtKB/TrEMBL
  A1A4S8 ENTREZGENE
  A8MST6 ENTREZGENE, UniProtKB/TrEMBL
  CEP78_HUMAN UniProtKB/Swiss-Prot
  E9PHX5 ENTREZGENE
  Q5BJE3 ENTREZGENE
  Q5JTW0 ENTREZGENE
  Q5JTW1 ENTREZGENE
  Q5JTW2 ENTREZGENE
  Q9H9N3 ENTREZGENE
UniProt Secondary A1A4S8 UniProtKB/Swiss-Prot
  E9PHX5 UniProtKB/Swiss-Prot
  Q5BJE3 UniProtKB/Swiss-Prot
  Q5JTW0 UniProtKB/Swiss-Prot
  Q5JTW1 UniProtKB/Swiss-Prot
  Q9H9N3 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-04-04 CEP78  centrosomal protein 78    centrosomal protein 78kDa  Symbol and/or name change 5135510 APPROVED