CEP83 (centrosomal protein 83) - Rat Genome Database

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Gene: CEP83 (centrosomal protein 83) Homo sapiens
Analyze
Symbol: CEP83
Name: centrosomal protein 83
RGD ID: 1606008
HGNC Page HGNC:17966
Description: Enables identical protein binding activity. Involved in vesicle docking. Acts upstream of or within cilium assembly and protein localization to centrosome. Located in Golgi apparatus and centriole. Part of ciliary transition fiber. Implicated in nephronophthisis 18.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: CCDC41; centrosomal protein 83kDa; centrosomal protein of 83 kDa; coiled-coil domain containing 41; coiled-coil domain-containing protein 41; MGC149726; NPHP18; NY-REN-58; NY-REN-58 antigen; renal carcinoma antigen NY-REN-58
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: LOC100420549  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381294,265,662 - 94,460,454 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1294,306,449 - 94,459,988 (-)EnsemblGRCh38hg38GRCh38
GRCh371294,700,169 - 94,854,230 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361293,226,187 - 93,377,895 (-)NCBINCBI36Build 36hg18NCBI36
Celera1294,373,316 - 94,525,023 (-)NCBICelera
Cytogenetic Map12q22NCBI
HuRef1291,769,217 - 91,920,928 (-)NCBIHuRef
CHM1_11294,667,059 - 94,818,773 (-)NCBICHM1_1
T2T-CHM13v2.01294,249,742 - 94,441,264 (-)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  (IBA,IDA,IEA)
centrosome  (IBA,IEA)
ciliary transition fiber  (IBA,IDA,IEA)
cytoplasm  (IEA)
cytoskeleton  (IEA)
cytosol  (TAS)
Golgi apparatus  (IDA)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
4. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:8889548   PMID:10508479   PMID:12477932   PMID:12586822   PMID:14702039   PMID:15489334   PMID:16344560   PMID:21873635   PMID:23314748   PMID:23348840   PMID:23518928   PMID:23530209  
PMID:24882706   PMID:25416956   PMID:26496610   PMID:26638075   PMID:27336129   PMID:28514442   PMID:29778605   PMID:30021884   PMID:30532072   PMID:31455668   PMID:31527615   PMID:31586073  
PMID:32296183   PMID:33766124   PMID:33938610   PMID:33961781   PMID:36222666  


Genomics

Comparative Map Data
CEP83
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381294,265,662 - 94,460,454 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1294,306,449 - 94,459,988 (-)EnsemblGRCh38hg38GRCh38
GRCh371294,700,169 - 94,854,230 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361293,226,187 - 93,377,895 (-)NCBINCBI36Build 36hg18NCBI36
Celera1294,373,316 - 94,525,023 (-)NCBICelera
Cytogenetic Map12q22NCBI
HuRef1291,769,217 - 91,920,928 (-)NCBIHuRef
CHM1_11294,667,059 - 94,818,773 (-)NCBICHM1_1
T2T-CHM13v2.01294,249,742 - 94,441,264 (-)NCBIT2T-CHM13v2.0
Cep83
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391094,524,476 - 94,626,201 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1094,524,516 - 94,626,715 (+)EnsemblGRCm39 Ensembl
GRCm381094,688,624 - 94,790,336 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1094,688,654 - 94,790,853 (+)EnsemblGRCm38mm10GRCm38
MGSCv371094,151,535 - 94,253,081 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361094,118,453 - 94,219,844 (+)NCBIMGSCv36mm8
Celera1096,661,649 - 96,763,007 (+)NCBICelera
Cytogenetic Map10C2NCBI
cM Map1049.05NCBI
Cep83
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8731,167,198 - 31,276,513 (+)NCBIGRCr8
mRatBN7.2729,280,358 - 29,389,574 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl729,280,419 - 29,389,574 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx731,270,092 - 31,379,190 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0733,438,268 - 33,547,419 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0733,208,784 - 33,317,925 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0735,739,553 - 35,847,618 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl735,773,928 - 35,847,617 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0735,803,488 - 35,911,636 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4731,911,351 - 31,984,394 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1731,931,621 - 32,004,664 (+)NCBI
Celera726,360,215 - 26,468,974 (+)NCBICelera
Cytogenetic Map7q13NCBI
Cep83
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540531,024,522 - 31,165,824 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495540531,024,524 - 31,165,824 (-)NCBIChiLan1.0ChiLan1.0
CEP83
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v210102,351,758 - 102,505,794 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan112102,348,012 - 102,502,188 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01291,829,333 - 92,008,890 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11295,238,166 - 95,403,175 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1295,247,299 - 95,403,175 (-)Ensemblpanpan1.1panPan2
CEP83
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11534,409,176 - 34,541,746 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1534,418,139 - 34,499,159 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1534,868,023 - 34,874,353 (-)NCBIDog10K_Boxer_Tasha
Dog10K_Boxer_Tasha1534,875,988 - 34,927,703 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01535,072,544 - 35,204,936 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1535,080,927 - 35,302,000 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11534,346,160 - 34,478,473 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01534,435,644 - 34,568,151 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01534,704,475 - 34,836,795 (-)NCBIUU_Cfam_GSD_1.0
Cep83
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494525,442,808 - 25,563,887 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493650710,671,047 - 10,792,854 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493650710,671,371 - 10,792,863 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CEP83
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl588,770,532 - 88,899,056 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1588,770,706 - 88,909,874 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2593,460,477 - 93,529,450 (-)NCBISscrofa10.2Sscrofa10.2susScr3
CEP83
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11189,692,069 - 89,858,565 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1189,703,972 - 89,827,267 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666037155,310,846 - 155,469,351 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Cep83
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462475012,533,762 - 12,638,059 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462475012,533,644 - 12,638,701 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in CEP83
462 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_016122.3(CEP83):c.1392A>G (p.Glu464=) single nucleotide variant Nephronophthisis 18 [RCV001412354] Chr12:94335616 [GRCh38]
Chr12:94729392 [GRCh37]
Chr12:12q22		 likely benign
NM_016122.3(CEP83):c.1411C>T (p.Leu471=) single nucleotide variant Nephronophthisis 18 [RCV000543753]|not provided [RCV001568610] Chr12:94335597 [GRCh38]
Chr12:94729373 [GRCh37]
Chr12:12q22		 benign|likely benign
NM_001042399.1(CEP83):c.1707+9215C>G single nucleotide variant Lung cancer [RCV000097548] Chr12:94322485 [GRCh38]
Chr12:94716261 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.121C>T (p.Arg41Ter) single nucleotide variant Nephronophthisis 18 [RCV000128439] Chr12:94412370 [GRCh38]
Chr12:94806146 [GRCh37]
Chr12:12q22		 pathogenic
NM_016122.3(CEP83):c.241C>T (p.Gln81Ter) single nucleotide variant Nephronophthisis 18 [RCV000128441] Chr12:94411780 [GRCh38]
Chr12:94805556 [GRCh37]
Chr12:12q22		 pathogenic
NM_016122.3(CEP83):c.1532G>C (p.Arg511Pro) single nucleotide variant Nephronophthisis 18 [RCV000128443] Chr12:94333527 [GRCh38]
Chr12:94727303 [GRCh37]
Chr12:12q22		 pathogenic
NM_016122.3(CEP83):c.625C>T (p.Arg209Ter) single nucleotide variant Nephronophthisis 18 [RCV000128444]|not provided [RCV001528375] Chr12:94378967 [GRCh38]
Chr12:94772743 [GRCh37]
Chr12:12q22		 pathogenic
NM_016122.3(CEP83):c.335_352del (p.Pro112_Leu117del) deletion Nephronophthisis 18 [RCV000128440] Chr12:94403235..94403252 [GRCh38]
Chr12:94797011..94797028 [GRCh37]
Chr12:12q22		 pathogenic
NM_016122.3(CEP83):c.2072AAC[1] (p.Gln692del) microsatellite Nephronophthisis 18 [RCV000128442] Chr12:94308842..94308844 [GRCh38]
Chr12:94702618..94702620 [GRCh37]
Chr12:12q22		 pathogenic
NM_016122.3(CEP83):c.1530C>A (p.Cys510Ter) single nucleotide variant Nephronophthisis 18 [RCV000128445] Chr12:94333529 [GRCh38]
Chr12:94727305 [GRCh37]
Chr12:12q22		 pathogenic
GRCh38/hg38 12q21.33-22(chr12:90996508-94872818)x1 copy number loss See cases [RCV000138659] Chr12:90996508..94872818 [GRCh38]
Chr12:91390285..95266594 [GRCh37]
Chr12:89914416..93790725 [NCBI36]
Chr12:12q21.33-22		 likely pathogenic
GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3 copy number gain See cases [RCV000139555] Chr12:121271..133196807 [GRCh38]
Chr12:282465..133773393 [GRCh37]
Chr12:100698..132283466 [NCBI36]
Chr12:12p13.33-q24.33		 pathogenic
GRCh38/hg38 12q21.33-24.11(chr12:91044318-109133210)x3 copy number gain See cases [RCV000142447] Chr12:91044318..109133210 [GRCh38]
Chr12:91438095..109571015 [GRCh37]
Chr12:89962226..108055398 [NCBI36]
Chr12:12q21.33-24.11		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3 copy number gain See cases [RCV000258805] Chr12:1..133851895 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic|likely pathogenic
NM_005761.3(PLXNC1):c.3649T>C (p.Cys1217Arg) single nucleotide variant Anophthalmia-microphthalmia syndrome [RCV000207375] Chr12:94279523 [GRCh38]
Chr12:94673299 [GRCh37]
Chr12:12q22		 likely benign
NM_016122.3(CEP83):c.801+95C>A single nucleotide variant not provided [RCV002285709] Chr12:94378696 [GRCh38]
Chr12:94772472 [GRCh37]
Chr12:12q22		 likely benign
NM_016122.3(CEP83):c.408T>C (p.Asn136=) single nucleotide variant Nephronophthisis 18 [RCV000551767]|not provided [RCV001786402] Chr12:94403179 [GRCh38]
Chr12:94796955 [GRCh37]
Chr12:12q22		 benign|likely benign
NM_016122.3(CEP83):c.1470T>C (p.Asn490=) single nucleotide variant CEP83-related condition [RCV003935528]|Nephronophthisis 18 [RCV000558422] Chr12:94333589 [GRCh38]
Chr12:94727365 [GRCh37]
Chr12:12q22		 likely benign
NM_016122.3(CEP83):c.1321A>G (p.Arg441Gly) single nucleotide variant Nephronophthisis 18 [RCV001034799]|not provided [RCV000417742] Chr12:94367816 [GRCh38]
Chr12:94761592 [GRCh37]
Chr12:12q22		 likely benign|uncertain significance
NM_016122.3(CEP83):c.1118A>T (p.Asp373Val) single nucleotide variant Ciliopathy [RCV003983042]|Nephronophthisis 18 [RCV001035539]|not provided [RCV000434526] Chr12:94368132 [GRCh38]
Chr12:94761908 [GRCh37]
Chr12:12q22		 likely pathogenic|uncertain significance
NM_016122.3(CEP83):c.1067_1068insTA (p.Glu356fs) insertion Nephronophthisis 18 [RCV001851184]|not provided [RCV000487206] Chr12:94368182..94368183 [GRCh38]
Chr12:94761958..94761959 [GRCh37]
Chr12:12q22		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3 copy number gain See cases [RCV000510482] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902) copy number gain See cases [RCV000511643] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
NM_016122.3(CEP83):c.437C>T (p.Ala146Val) single nucleotide variant Nephronophthisis 18 [RCV000557087] Chr12:94400962 [GRCh38]
Chr12:94794738 [GRCh37]
Chr12:12q22		 benign
NM_016122.3(CEP83):c.1582T>C (p.Leu528=) single nucleotide variant Nephronophthisis 18 [RCV000537035] Chr12:94331825 [GRCh38]
Chr12:94725601 [GRCh37]
Chr12:12q22		 benign
NM_016122.3(CEP83):c.613A>G (p.Lys205Glu) single nucleotide variant Nephronophthisis 18 [RCV000652122] Chr12:94378979 [GRCh38]
Chr12:94772755 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.860G>A (p.Ser287Asn) single nucleotide variant Nephronophthisis 18 [RCV000652123] Chr12:94375959 [GRCh38]
Chr12:94769735 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.1565T>G (p.Leu522Arg) single nucleotide variant CEP83-related condition [RCV003937980]|Nephronophthisis 18 [RCV000652124] Chr12:94333494 [GRCh38]
Chr12:94727270 [GRCh37]
Chr12:12q22		 likely benign
NM_016122.3(CEP83):c.1203C>T (p.Leu401=) single nucleotide variant Nephronophthisis 18 [RCV000652125]|not provided [RCV003392499] Chr12:94367934 [GRCh38]
Chr12:94761710 [GRCh37]
Chr12:12q22		 benign|likely benign
GRCh38/hg38 12q22(chr12:93374113-94267175)x3 copy number gain See cases [RCV000134720] Chr12:93374113..94267175 [GRCh38]
Chr12:93767889..94660951 [GRCh37]
Chr12:92292020..93185082 [NCBI36]
Chr12:12q22		 uncertain significance
NM_005761.3(PLXNC1):c.3879+4A>G single nucleotide variant not provided [RCV000512963] Chr12:94282405 [GRCh38]
Chr12:94676181 [GRCh37]
Chr12:12q22		 uncertain significance
NM_005761.3(PLXNC1):c.4145T>A (p.Phe1382Tyr) single nucleotide variant not provided [RCV000513388] Chr12:94298702 [GRCh38]
Chr12:94692478 [GRCh37]
Chr12:12q22		 likely benign
NM_016122.3(CEP83):c.479C>T (p.Ser160Leu) single nucleotide variant Nephronophthisis 18 [RCV000701269] Chr12:94400920 [GRCh38]
Chr12:94794696 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.1888C>T (p.Arg630Ter) single nucleotide variant Nephronophthisis 18 [RCV000701469] Chr12:94310031 [GRCh38]
Chr12:94703807 [GRCh37]
Chr12:12q22		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:621220-133779118)x3 copy number gain not provided [RCV000750253] Chr12:621220..133779118 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12q21.33-22(chr12:91621655-96014946)x1 copy number loss not provided [RCV000737994] Chr12:91621655..96014946 [GRCh37]
Chr12:12q21.33-22		 uncertain significance
GRCh37/hg19 12p13.33-q24.33(chr12:191619-133777645)x3 copy number gain not provided [RCV000750246] Chr12:191619..133777645 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
NM_016122.3(CEP83):c.174-112G>A single nucleotide variant not provided [RCV001540530] Chr12:94411959 [GRCh38]
Chr12:94805735 [GRCh37]
Chr12:12q22		 benign
NM_016122.3(CEP83):c.1708-253del deletion not provided [RCV001648104] Chr12:94313270 [GRCh38]
Chr12:94707046 [GRCh37]
Chr12:12q22		 benign
NM_016122.3(CEP83):c.1049-141G>T single nucleotide variant not provided [RCV001648168] Chr12:94368342 [GRCh38]
Chr12:94762118 [GRCh37]
Chr12:12q22		 benign
NM_016122.3(CEP83):c.1707+184C>T single nucleotide variant not provided [RCV001564599] Chr12:94331516 [GRCh38]
Chr12:94725292 [GRCh37]
Chr12:12q22		 likely benign
NM_016122.3(CEP83):c.236C>T (p.Thr79Ile) single nucleotide variant Nephronophthisis 18 [RCV001065287] Chr12:94411785 [GRCh38]
Chr12:94805561 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.1684C>T (p.Arg562Ter) single nucleotide variant Nephronophthisis 18 [RCV002549887]|not provided [RCV000994961] Chr12:94331723 [GRCh38]
Chr12:94725499 [GRCh37]
Chr12:12q22		 pathogenic|uncertain significance
NM_016122.3(CEP83):c.802-169C>A single nucleotide variant not provided [RCV001566889] Chr12:94376186 [GRCh38]
Chr12:94769962 [GRCh37]
Chr12:12q22		 likely benign
NM_016122.3(CEP83):c.1339G>A (p.Val447Ile) single nucleotide variant Nephronophthisis 18 [RCV001068296] Chr12:94367798 [GRCh38]
Chr12:94761574 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.30C>T (p.Asp10=) single nucleotide variant not provided [RCV000982728] Chr12:94412461 [GRCh38]
Chr12:94806237 [GRCh37]
Chr12:12q22		 likely benign
NM_005761.3(PLXNC1):c.4387-7T>C single nucleotide variant not provided [RCV000948900] Chr12:94303749 [GRCh38]
Chr12:94697525 [GRCh37]
Chr12:12q22		 benign
NM_016122.3(CEP83):c.417+3A>G single nucleotide variant Nephronophthisis 18 [RCV000878000]|not provided [RCV002469313] Chr12:94403167 [GRCh38]
Chr12:94796943 [GRCh37]
Chr12:12q22		 likely benign|uncertain significance
NM_016122.3(CEP83):c.653T>C (p.Val218Ala) single nucleotide variant Nephronophthisis 18 [RCV001061362] Chr12:94378939 [GRCh38]
Chr12:94772715 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.1366G>A (p.Val456Met) single nucleotide variant Inborn genetic diseases [RCV004031471]|Nephronophthisis 18 [RCV001047357] Chr12:94335642 [GRCh38]
Chr12:94729418 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.706G>A (p.Ala236Thr) single nucleotide variant Nephronophthisis 18 [RCV001041235] Chr12:94378886 [GRCh38]
Chr12:94772662 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.173+3A>G single nucleotide variant Nephronophthisis 18 [RCV001035220] Chr12:94412315 [GRCh38]
Chr12:94806091 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.796C>G (p.Leu266Val) single nucleotide variant Inborn genetic diseases [RCV002553326]|Nephronophthisis 18 [RCV001053621] Chr12:94378796 [GRCh38]
Chr12:94772572 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.60A>G (p.Gly20=) single nucleotide variant Nephronophthisis 18 [RCV001497101] Chr12:94412431 [GRCh38]
Chr12:94806207 [GRCh37]
Chr12:12q22		 likely benign
NM_016122.3(CEP83):c.391A>C (p.Arg131=) single nucleotide variant not provided [RCV000940297] Chr12:94403196 [GRCh38]
Chr12:94796972 [GRCh37]
Chr12:12q22		 likely benign
NM_016122.3(CEP83):c.1232T>C (p.Met411Thr) single nucleotide variant CEP83-related condition [RCV003925866]|Inborn genetic diseases [RCV003169457]|Nephronophthisis 18 [RCV000946280]|not provided [RCV001805942] Chr12:94367905 [GRCh38]
Chr12:94761681 [GRCh37]
Chr12:12q22		 likely benign|uncertain significance
NM_016122.3(CEP83):c.1260A>G (p.Gln420=) single nucleotide variant Nephronophthisis 18 [RCV001400171] Chr12:94367877 [GRCh38]
Chr12:94761653 [GRCh37]
Chr12:12q22		 likely benign
NM_016122.3(CEP83):c.1120C>T (p.Arg374Cys) single nucleotide variant Nephronophthisis 18 [RCV000808461]|not provided [RCV001529855] Chr12:94368130 [GRCh38]
Chr12:94761906 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.907C>T (p.Arg303Ter) single nucleotide variant Nephronophthisis 18 [RCV000812989] Chr12:94375912 [GRCh38]
Chr12:94769688 [GRCh37]
Chr12:12q22		 pathogenic
NM_005761.3(PLXNC1):c.4245T>C (p.Pro1415=) single nucleotide variant not provided [RCV000962273] Chr12:94300916 [GRCh38]
Chr12:94694692 [GRCh37]
Chr12:12q22		 benign
NM_016122.3(CEP83):c.174-5dup duplication Nephronophthisis 18 [RCV001511317] Chr12:94411851..94411852 [GRCh38]
Chr12:94805627..94805628 [GRCh37]
Chr12:12q22		 benign
NM_005761.3(PLXNC1):c.4005A>G (p.Gly1335=) single nucleotide variant not provided [RCV000963971] Chr12:94297354 [GRCh38]
Chr12:94691130 [GRCh37]
Chr12:12q22		 likely benign
NM_016122.3(CEP83):c.1634G>A (p.Arg545His) single nucleotide variant CEP83-related condition [RCV003936222]|Nephronophthisis 18 [RCV000981725] Chr12:94331773 [GRCh38]
Chr12:94725549 [GRCh37]
Chr12:12q22		 likely benign
NM_016122.3(CEP83):c.1151A>G (p.Lys384Arg) single nucleotide variant CEP83-related condition [RCV003906156]|Nephronophthisis 18 [RCV001044281]|not provided [RCV001729782] Chr12:94368099 [GRCh38]
Chr12:94761875 [GRCh37]
Chr12:12q22		 likely benign|uncertain significance
NM_016122.3(CEP83):c.391A>G (p.Arg131Gly) single nucleotide variant Nephronophthisis 18 [RCV001248574] Chr12:94403196 [GRCh38]
Chr12:94796972 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.908G>A (p.Arg303Gln) single nucleotide variant Nephronophthisis 18 [RCV001222599] Chr12:94375911 [GRCh38]
Chr12:94769687 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.152C>T (p.Thr51Ile) single nucleotide variant Nephronophthisis 18 [RCV001242024] Chr12:94412339 [GRCh38]
Chr12:94806115 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.1194G>A (p.Lys398=) single nucleotide variant Nephronophthisis 18 [RCV001227316] Chr12:94367943 [GRCh38]
Chr12:94761719 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.257T>A (p.Leu86His) single nucleotide variant Inborn genetic diseases [RCV002563242]|Nephronophthisis 18 [RCV001234389] Chr12:94411764 [GRCh38]
Chr12:94805540 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.1292G>A (p.Arg431Gln) single nucleotide variant Nephronophthisis 18 [RCV001220706] Chr12:94367845 [GRCh38]
Chr12:94761621 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.454C>T (p.Arg152Cys) single nucleotide variant Nephronophthisis 18 [RCV001240052] Chr12:94400945 [GRCh38]
Chr12:94794721 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.2020G>A (p.Glu674Lys) single nucleotide variant Nephronophthisis 18 [RCV001227475] Chr12:94308899 [GRCh38]
Chr12:94702675 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.232C>G (p.Gln78Glu) single nucleotide variant Nephronophthisis 18 [RCV001229208] Chr12:94411789 [GRCh38]
Chr12:94805565 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.1660A>T (p.Asn554Tyr) single nucleotide variant Inborn genetic diseases [RCV002561773]|Nephronophthisis 18 [RCV001212002] Chr12:94331747 [GRCh38]
Chr12:94725523 [GRCh37]
Chr12:12q22		 uncertain significance
NM_005761.3(PLXNC1):c.3640G>A (p.Ala1214Thr) single nucleotide variant not specified [RCV004295667] Chr12:94279514 [GRCh38]
Chr12:94673290 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.1344-137G>A single nucleotide variant not provided [RCV001617795] Chr12:94335801 [GRCh38]
Chr12:94729577 [GRCh37]
Chr12:12q22		 benign
NM_016122.3(CEP83):c.-101-103del deletion not provided [RCV001533971] Chr12:94412694 [GRCh38]
Chr12:94806470 [GRCh37]
Chr12:12q22		 benign
NM_016122.3(CEP83):c.549+218del deletion not provided [RCV001721712] Chr12:94400632 [GRCh38]
Chr12:94794408 [GRCh37]
Chr12:12q22		 benign
NM_016122.3(CEP83):c.*306del deletion not provided [RCV001695825] Chr12:94308507 [GRCh38]
Chr12:94702283 [GRCh37]
Chr12:12q22		 benign
NM_016122.3(CEP83):c.801+305T>C single nucleotide variant not provided [RCV001707452] Chr12:94378486 [GRCh38]
Chr12:94772262 [GRCh37]
Chr12:12q22		 benign
NM_016122.3(CEP83):c.802-152T>C single nucleotide variant not provided [RCV001639765] Chr12:94376169 [GRCh38]
Chr12:94769945 [GRCh37]
Chr12:12q22		 benign
NM_016122.3(CEP83):c.2002-244T>A single nucleotide variant not provided [RCV001689385] Chr12:94309161 [GRCh38]
Chr12:94702937 [GRCh37]
Chr12:12q22		 benign
NM_016122.3(CEP83):c.-101-138C>T single nucleotide variant not provided [RCV001544880] Chr12:94412729 [GRCh38]
Chr12:94806505 [GRCh37]
Chr12:12q22		 likely benign
NM_016122.3(CEP83):c.-101-279dup duplication not provided [RCV001557941] Chr12:94412855..94412856 [GRCh38]
Chr12:94806631..94806632 [GRCh37]
Chr12:12q22		 likely benign
NM_005761.3(PLXNC1):c.4387-6C>T single nucleotide variant not provided [RCV000963478] Chr12:94303750 [GRCh38]
Chr12:94697526 [GRCh37]
Chr12:12q22		 likely benign
NM_016122.3(CEP83):c.835C>T (p.Arg279Cys) single nucleotide variant Nephronophthisis 18 [RCV000952198] Chr12:94375984 [GRCh38]
Chr12:94769760 [GRCh37]
Chr12:12q22		 likely benign
NM_005761.3(PLXNC1):c.4387-3dup duplication not provided [RCV000881813] Chr12:94303749..94303750 [GRCh38]
Chr12:94697525..94697526 [GRCh37]
Chr12:12q22		 benign
NM_016122.3(CEP83):c.1783T>C (p.Leu595=) single nucleotide variant Nephronophthisis 18 [RCV002065520] Chr12:94312942 [GRCh38]
Chr12:94706718 [GRCh37]
Chr12:12q22		 likely benign
NM_016122.3(CEP83):c.1578-7C>T single nucleotide variant not provided [RCV000933394] Chr12:94331836 [GRCh38]
Chr12:94725612 [GRCh37]
Chr12:12q22		 likely benign
NM_016122.3(CEP83):c.1544G>A (p.Ser515Asn) single nucleotide variant Inborn genetic diseases [RCV002561844]|Nephronophthisis 18 [RCV001214377] Chr12:94333515 [GRCh38]
Chr12:94727291 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.1304T>A (p.Met435Lys) single nucleotide variant Nephronophthisis 18 [RCV001247604] Chr12:94367833 [GRCh38]
Chr12:94761609 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.1280A>G (p.Glu427Gly) single nucleotide variant Inborn genetic diseases [RCV004032581]|Nephronophthisis 18 [RCV001226617] Chr12:94367857 [GRCh38]
Chr12:94761633 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.760C>T (p.Arg254Trp) single nucleotide variant Nephronophthisis 18 [RCV001226740]|not provided [RCV003442788] Chr12:94378832 [GRCh38]
Chr12:94772608 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.1193+5G>A single nucleotide variant Nephronophthisis 18 [RCV001245641] Chr12:94368052 [GRCh38]
Chr12:94761828 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.253C>G (p.Gln85Glu) single nucleotide variant Nephronophthisis 18 [RCV001067083] Chr12:94411768 [GRCh38]
Chr12:94805544 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.2000A>G (p.Gln667Arg) single nucleotide variant Nephronophthisis 18 [RCV001224673] Chr12:94309919 [GRCh38]
Chr12:94703695 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.1009C>A (p.Leu337Ile) single nucleotide variant Inborn genetic diseases [RCV003263888]|Nephronophthisis 18 [RCV001244138] Chr12:94369961 [GRCh38]
Chr12:94763737 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.2091A>G (p.Gly697=) single nucleotide variant not provided [RCV000911730] Chr12:94308828 [GRCh38]
Chr12:94702604 [GRCh37]
Chr12:12q22		 likely benign
NM_016122.3(CEP83):c.177G>A (p.Leu59=) single nucleotide variant not provided [RCV000890142] Chr12:94411844 [GRCh38]
Chr12:94805620 [GRCh37]
Chr12:12q22		 likely benign
NM_005761.3(PLXNC1):c.4387-8T>C single nucleotide variant not provided [RCV000957101] Chr12:94303748 [GRCh38]
Chr12:94697524 [GRCh37]
Chr12:12q22		 benign
NM_016122.3(CEP83):c.1344-258G>A single nucleotide variant not provided [RCV001689067] Chr12:94335922 [GRCh38]
Chr12:94729698 [GRCh37]
Chr12:12q22		 benign
NM_016122.3(CEP83):c.1708-61T>C single nucleotide variant not provided [RCV001554915] Chr12:94313078 [GRCh38]
Chr12:94706854 [GRCh37]
Chr12:12q22		 likely benign
NM_016122.3(CEP83):c.934-315C>T single nucleotide variant not provided [RCV001689323] Chr12:94370351 [GRCh38]
Chr12:94764127 [GRCh37]
Chr12:12q22		 benign
NM_016122.3(CEP83):c.1812-292dup duplication not provided [RCV001540714] Chr12:94310394..94310395 [GRCh38]
Chr12:94704170..94704171 [GRCh37]
Chr12:12q22		 benign
NM_016122.3(CEP83):c.-101-159A>G single nucleotide variant not provided [RCV001608544] Chr12:94412750 [GRCh38]
Chr12:94806526 [GRCh37]
Chr12:12q22		 benign
NM_016122.3(CEP83):c.2001+284A>C single nucleotide variant not provided [RCV001596280] Chr12:94309634 [GRCh38]
Chr12:94703410 [GRCh37]
Chr12:12q22		 benign
NM_016122.3(CEP83):c.1344-240A>G single nucleotide variant not provided [RCV001596288] Chr12:94335904 [GRCh38]
Chr12:94729680 [GRCh37]
Chr12:12q22		 benign
NM_016122.3(CEP83):c.934-87G>A single nucleotide variant not provided [RCV001596310] Chr12:94370123 [GRCh38]
Chr12:94763899 [GRCh37]
Chr12:12q22		 benign
NM_016122.3(CEP83):c.418-267dup duplication not provided [RCV001616902] Chr12:94401245..94401246 [GRCh38]
Chr12:94795021..94795022 [GRCh37]
Chr12:12q22		 benign
NM_016122.3(CEP83):c.1344-305G>C single nucleotide variant not provided [RCV001594693] Chr12:94335969 [GRCh38]
Chr12:94729745 [GRCh37]
Chr12:12q22		 benign
NM_016122.3(CEP83):c.511C>T (p.Arg171Cys) single nucleotide variant Nephronophthisis 18 [RCV001228493] Chr12:94400888 [GRCh38]
Chr12:94794664 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.61G>A (p.Asp21Asn) single nucleotide variant Nephronophthisis 18 [RCV001047100] Chr12:94412430 [GRCh38]
Chr12:94806206 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.1518A>G (p.Leu506=) single nucleotide variant not provided [RCV001532211] Chr12:94333541 [GRCh38]
Chr12:94727317 [GRCh37]
Chr12:12q22		 likely benign
NM_016122.3(CEP83):c.1344-146C>T single nucleotide variant not provided [RCV001682562] Chr12:94335810 [GRCh38]
Chr12:94729586 [GRCh37]
Chr12:12q22		 benign
NM_016122.3(CEP83):c.1419+79T>A single nucleotide variant not provided [RCV001671369] Chr12:94335510 [GRCh38]
Chr12:94729286 [GRCh37]
Chr12:12q22		 benign
NM_016122.3(CEP83):c.802-196T>C single nucleotide variant not provided [RCV001708032] Chr12:94376213 [GRCh38]
Chr12:94769989 [GRCh37]
Chr12:12q22		 benign
NM_016122.3(CEP83):c.1344-225T>C single nucleotide variant not provided [RCV001694892] Chr12:94335889 [GRCh38]
Chr12:94729665 [GRCh37]
Chr12:12q22		 benign
NM_016122.3(CEP83):c.1419+219A>G single nucleotide variant not provided [RCV001590054] Chr12:94335370 [GRCh38]
Chr12:94729146 [GRCh37]
Chr12:12q22		 likely benign
NM_016122.3(CEP83):c.1437_1438delinsAT (p.Ile480Phe) indel Nephronophthisis 18 [RCV001071188] Chr12:94333621..94333622 [GRCh38]
Chr12:94727397..94727398 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.1131dup (p.Arg378fs) duplication Nephronophthisis 18 [RCV001060137] Chr12:94368118..94368119 [GRCh38]
Chr12:94761894..94761895 [GRCh37]
Chr12:12q22		 pathogenic
NM_016122.3(CEP83):c.604G>C (p.Asp202His) single nucleotide variant Nephronophthisis 18 [RCV001211995] Chr12:94378988 [GRCh38]
Chr12:94772764 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.431A>G (p.Tyr144Cys) single nucleotide variant Nephronophthisis 18 [RCV001053010] Chr12:94400968 [GRCh38]
Chr12:94794744 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.737A>G (p.Glu246Gly) single nucleotide variant Nephronophthisis 18 [RCV001057960] Chr12:94378855 [GRCh38]
Chr12:94772631 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.643C>G (p.Arg215Gly) single nucleotide variant Nephronophthisis 18 [RCV001051792] Chr12:94378949 [GRCh38]
Chr12:94772725 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.1291C>T (p.Arg431Trp) single nucleotide variant Nephronophthisis 18 [RCV001054679] Chr12:94367846 [GRCh38]
Chr12:94761622 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.177_197dup (p.His63_Glu69dup) duplication Nephronophthisis 18 [RCV001248091] Chr12:94411823..94411824 [GRCh38]
Chr12:94805599..94805600 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.2098G>A (p.Gly700Arg) single nucleotide variant Nephronophthisis 18 [RCV001048701] Chr12:94308821 [GRCh38]
Chr12:94702597 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.117G>C (p.Arg39Ser) single nucleotide variant Nephronophthisis 18 [RCV001211379] Chr12:94412374 [GRCh38]
Chr12:94806150 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.790A>G (p.Arg264Gly) single nucleotide variant Nephronophthisis 18 [RCV001054463] Chr12:94378802 [GRCh38]
Chr12:94772578 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.764A>G (p.Gln255Arg) single nucleotide variant Nephronophthisis 18 [RCV001064526] Chr12:94378828 [GRCh38]
Chr12:94772604 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.76G>A (p.Gly26Ser) single nucleotide variant Nephronophthisis 18 [RCV001050840] Chr12:94412415 [GRCh38]
Chr12:94806191 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.1234_1237del (p.Lys412fs) deletion Nephronophthisis 18 [RCV001037716]|Nephronophthisis [RCV003483757] Chr12:94367900..94367903 [GRCh38]
Chr12:94761676..94761679 [GRCh37]
Chr12:12q22		 pathogenic|not provided
NM_016122.3(CEP83):c.712A>G (p.Lys238Glu) single nucleotide variant Nephronophthisis 18 [RCV001302845] Chr12:94378880 [GRCh38]
Chr12:94772656 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.1084G>A (p.Val362Ile) single nucleotide variant Nephronophthisis 18 [RCV001348607] Chr12:94368166 [GRCh38]
Chr12:94761942 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.661T>C (p.Cys221Arg) single nucleotide variant Nephronophthisis 18 [RCV001312826] Chr12:94378931 [GRCh38]
Chr12:94772707 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.155T>C (p.Leu52Pro) single nucleotide variant Nephronophthisis 18 [RCV001339169] Chr12:94412336 [GRCh38]
Chr12:94806112 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.469T>A (p.Phe157Ile) single nucleotide variant Nephronophthisis 18 [RCV001316398] Chr12:94400930 [GRCh38]
Chr12:94794706 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.587A>G (p.Asn196Ser) single nucleotide variant Nephronophthisis 18 [RCV001327308] Chr12:94379005 [GRCh38]
Chr12:94772781 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.563A>C (p.Glu188Ala) single nucleotide variant Inborn genetic diseases [RCV002546970]|Nephronophthisis 18 [RCV001342784] Chr12:94379029 [GRCh38]
Chr12:94772805 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.263T>C (p.Leu88Pro) single nucleotide variant Nephronophthisis 18 [RCV001304832] Chr12:94411758 [GRCh38]
Chr12:94805534 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.571_573del (p.Lys191del) deletion Nephronophthisis 18 [RCV001320726] Chr12:94379019..94379021 [GRCh38]
Chr12:94772795..94772797 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.236C>G (p.Thr79Ser) single nucleotide variant Nephronophthisis 18 [RCV001343683] Chr12:94411785 [GRCh38]
Chr12:94805561 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.772G>C (p.Glu258Gln) single nucleotide variant Nephronophthisis 18 [RCV001297016] Chr12:94378820 [GRCh38]
Chr12:94772596 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.1354C>A (p.Gln452Lys) single nucleotide variant Nephronophthisis 18 [RCV001314017] Chr12:94335654 [GRCh38]
Chr12:94729430 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.1369A>G (p.Thr457Ala) single nucleotide variant Nephronophthisis 18 [RCV001362338] Chr12:94335639 [GRCh38]
Chr12:94729415 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.256C>T (p.Leu86Phe) single nucleotide variant Inborn genetic diseases [RCV004036860]|Nephronophthisis 18 [RCV001363045] Chr12:94411765 [GRCh38]
Chr12:94805541 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.1365T>C (p.Ile455=) single nucleotide variant Nephronophthisis 18 [RCV001433362] Chr12:94335643 [GRCh38]
Chr12:94729419 [GRCh37]
Chr12:12q22		 likely benign
NM_016122.3(CEP83):c.1273C>G (p.Gln425Glu) single nucleotide variant Inborn genetic diseases [RCV002545067]|Nephronophthisis 18 [RCV001314186] Chr12:94367864 [GRCh38]
Chr12:94761640 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.1819G>A (p.Val607Ile) single nucleotide variant Inborn genetic diseases [RCV003166906]|Nephronophthisis 18 [RCV001325199]|not provided [RCV003128779] Chr12:94310100 [GRCh38]
Chr12:94703876 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.1842_1853del (p.Gln616_Leu619del) deletion Nephronophthisis 18 [RCV001361702] Chr12:94310066..94310077 [GRCh38]
Chr12:94703842..94703853 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.1633C>T (p.Arg545Cys) single nucleotide variant Nephronophthisis 18 [RCV001338428] Chr12:94331774 [GRCh38]
Chr12:94725550 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.412G>A (p.Asp138Asn) single nucleotide variant Nephronophthisis 18 [RCV001368989] Chr12:94403175 [GRCh38]
Chr12:94796951 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.388A>G (p.Met130Val) single nucleotide variant Nephronophthisis 18 [RCV001327364] Chr12:94403199 [GRCh38]
Chr12:94796975 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.802-9G>A single nucleotide variant Nephronophthisis 18 [RCV001370662] Chr12:94376026 [GRCh38]
Chr12:94769802 [GRCh37]
Chr12:12q22		 likely benign|uncertain significance
NM_016122.3(CEP83):c.1132C>T (p.Arg378Cys) single nucleotide variant Nephronophthisis 18 [RCV001371080] Chr12:94368118 [GRCh38]
Chr12:94761894 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.1420-5T>C single nucleotide variant Nephronophthisis 18 [RCV001332109] Chr12:94333644 [GRCh38]
Chr12:94727420 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.2007del (p.Glu669fs) deletion Nephronophthisis 18 [RCV001383008]|not provided [RCV001788466] Chr12:94308912 [GRCh38]
Chr12:94702688 [GRCh37]
Chr12:12q22		 pathogenic
NM_016122.3(CEP83):c.742G>A (p.Ala248Thr) single nucleotide variant Inborn genetic diseases [RCV002547367]|Nephronophthisis 18 [RCV001337525] Chr12:94378850 [GRCh38]
Chr12:94772626 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.1937C>T (p.Pro646Leu) single nucleotide variant Nephronophthisis 18 [RCV001322775] Chr12:94309982 [GRCh38]
Chr12:94703758 [GRCh37]
Chr12:12q22		 uncertain significance
NC_000012.11:g.(?_94634261)_(94806266_?)dup duplication Nephronophthisis 18 [RCV001344720] Chr12:94634261..94806266 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.2065_2075del (p.Gln689fs) deletion Nephronophthisis 18 [RCV001324024] Chr12:94308844..94308854 [GRCh38]
Chr12:94702620..94702630 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.410T>C (p.Leu137Pro) single nucleotide variant not provided [RCV001269675] Chr12:94403177 [GRCh38]
Chr12:94796953 [GRCh37]
Chr12:12q22		 likely pathogenic
NM_016122.3(CEP83):c.690A>T (p.Glu230Asp) single nucleotide variant Nephronophthisis 18 [RCV001346063] Chr12:94378902 [GRCh38]
Chr12:94772678 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.1344G>C (p.Arg448Ser) single nucleotide variant Nephronophthisis 18 [RCV001367685] Chr12:94335664 [GRCh38]
Chr12:94729440 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.284TAG[1] (p.Val96del) microsatellite Nephronophthisis 18 [RCV001372345] Chr12:94411732..94411734 [GRCh38]
Chr12:94805508..94805510 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.836_837inv (p.Arg279His) inversion Nephronophthisis 18 [RCV001324352] Chr12:94375982..94375983 [GRCh38]
Chr12:94769758..94769759 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.932A>C (p.Lys311Thr) single nucleotide variant Inborn genetic diseases [RCV004035254]|Nephronophthisis 18 [RCV001327747] Chr12:94375887 [GRCh38]
Chr12:94769663 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.1244A>G (p.His415Arg) single nucleotide variant Nephronophthisis 18 [RCV001341366] Chr12:94367893 [GRCh38]
Chr12:94761669 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.896A>G (p.His299Arg) single nucleotide variant Nephronophthisis 18 [RCV001363667] Chr12:94375923 [GRCh38]
Chr12:94769699 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.731A>G (p.Gln244Arg) single nucleotide variant Nephronophthisis 18 [RCV001324459] Chr12:94378861 [GRCh38]
Chr12:94772637 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.512G>A (p.Arg171His) single nucleotide variant Nephronophthisis 18 [RCV001305191] Chr12:94400887 [GRCh38]
Chr12:94794663 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.810A>C (p.Lys270Asn) single nucleotide variant Nephronophthisis 18 [RCV001326233] Chr12:94376009 [GRCh38]
Chr12:94769785 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.584G>T (p.Arg195Leu) single nucleotide variant Nephronophthisis 18 [RCV001366477] Chr12:94379008 [GRCh38]
Chr12:94772784 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.696G>A (p.Ala232=) single nucleotide variant CEP83-related condition [RCV003938726]|Nephronophthisis 18 [RCV001421550] Chr12:94378896 [GRCh38]
Chr12:94772672 [GRCh37]
Chr12:12q22		 likely benign
NM_016122.3(CEP83):c.346G>T (p.Glu116Ter) single nucleotide variant not provided [RCV001269674] Chr12:94403241 [GRCh38]
Chr12:94797017 [GRCh37]
Chr12:12q22		 pathogenic
NM_016122.3(CEP83):c.2099G>A (p.Gly700Glu) single nucleotide variant Nephronophthisis 18 [RCV001368922] Chr12:94308820 [GRCh38]
Chr12:94702596 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.682G>A (p.Glu228Lys) single nucleotide variant Nephronophthisis 18 [RCV001371594] Chr12:94378910 [GRCh38]
Chr12:94772686 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.124T>C (p.Cys42Arg) single nucleotide variant Nephronophthisis 18 [RCV001307744] Chr12:94412367 [GRCh38]
Chr12:94806143 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.980A>G (p.Lys327Arg) single nucleotide variant Nephronophthisis 18 [RCV001296669] Chr12:94369990 [GRCh38]
Chr12:94763766 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.1048+6A>G single nucleotide variant Nephronophthisis 18 [RCV001365769] Chr12:94369916 [GRCh38]
Chr12:94763692 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.852A>G (p.Leu284=) single nucleotide variant Nephronophthisis 18 [RCV001498990] Chr12:94375967 [GRCh38]
Chr12:94769743 [GRCh37]
Chr12:12q22		 likely benign
NM_016122.3(CEP83):c.1383A>G (p.Ala461=) single nucleotide variant Nephronophthisis 18 [RCV001471117] Chr12:94335625 [GRCh38]
Chr12:94729401 [GRCh37]
Chr12:12q22		 likely benign
NM_016122.3(CEP83):c.1011A>G (p.Leu337=) single nucleotide variant Nephronophthisis 18 [RCV001455653] Chr12:94369959 [GRCh38]
Chr12:94763735 [GRCh37]
Chr12:12q22		 likely benign
NM_016122.3(CEP83):c.582A>G (p.Leu194=) single nucleotide variant Nephronophthisis 18 [RCV001469000]|not provided [RCV003394068] Chr12:94379010 [GRCh38]
Chr12:94772786 [GRCh37]
Chr12:12q22		 likely benign
NM_016122.3(CEP83):c.1284G>A (p.Glu428=) single nucleotide variant Nephronophthisis 18 [RCV001475636] Chr12:94367853 [GRCh38]
Chr12:94761629 [GRCh37]
Chr12:12q22		 likely benign
NM_016122.3(CEP83):c.1708-20G>A single nucleotide variant Nephronophthisis 18 [RCV001480079] Chr12:94313037 [GRCh38]
Chr12:94706813 [GRCh37]
Chr12:12q22		 likely benign
NM_016122.3(CEP83):c.318A>G (p.Lys106=) single nucleotide variant Nephronophthisis 18 [RCV001437363] Chr12:94411703 [GRCh38]
Chr12:94805479 [GRCh37]
Chr12:12q22		 likely benign
NM_016122.3(CEP83):c.1707+8G>A single nucleotide variant Nephronophthisis 18 [RCV001463550] Chr12:94331692 [GRCh38]
Chr12:94725468 [GRCh37]
Chr12:12q22		 likely benign
NM_016122.3(CEP83):c.936A>G (p.Val312=) single nucleotide variant Nephronophthisis 18 [RCV001487960] Chr12:94370034 [GRCh38]
Chr12:94763810 [GRCh37]
Chr12:12q22		 likely benign
NM_016122.3(CEP83):c.1203C>G (p.Leu401=) single nucleotide variant Nephronophthisis 18 [RCV001493545] Chr12:94367934 [GRCh38]
Chr12:94761710 [GRCh37]
Chr12:12q22		 likely benign
NM_016122.3(CEP83):c.1812-8T>C single nucleotide variant Nephronophthisis 18 [RCV001501819] Chr12:94310115 [GRCh38]
Chr12:94703891 [GRCh37]
Chr12:12q22		 likely benign
NM_016122.3(CEP83):c.643C>T (p.Arg215Ter) single nucleotide variant Nephronophthisis 18 [RCV001385312] Chr12:94378949 [GRCh38]
Chr12:94772725 [GRCh37]
Chr12:12q22		 pathogenic
NM_016122.3(CEP83):c.1181T>A (p.Leu394Ter) single nucleotide variant Nephronophthisis 18 [RCV001381329] Chr12:94368069 [GRCh38]
Chr12:94761845 [GRCh37]
Chr12:12q22		 pathogenic
NM_016122.3(CEP83):c.1812-4T>A single nucleotide variant Nephronophthisis 18 [RCV001439935] Chr12:94310111 [GRCh38]
Chr12:94703887 [GRCh37]
Chr12:12q22		 likely benign
NM_016122.3(CEP83):c.1708-5T>C single nucleotide variant Nephronophthisis 18 [RCV001397835] Chr12:94313022 [GRCh38]
Chr12:94706798 [GRCh37]
Chr12:12q22		 likely benign
NM_016122.3(CEP83):c.961C>T (p.Leu321=) single nucleotide variant Nephronophthisis 18 [RCV001444826] Chr12:94370009 [GRCh38]
Chr12:94763785 [GRCh37]
Chr12:12q22		 likely benign
NM_016122.3(CEP83):c.1419+120A>T single nucleotide variant not provided [RCV001534167] Chr12:94335469 [GRCh38]
Chr12:94729245 [GRCh37]
Chr12:12q22		 benign
NM_016122.3(CEP83):c.324+11A>G single nucleotide variant Nephronophthisis 18 [RCV001401359] Chr12:94411686 [GRCh38]
Chr12:94805462 [GRCh37]
Chr12:12q22		 likely benign
NM_016122.3(CEP83):c.1889G>A (p.Arg630Gln) single nucleotide variant Nephronophthisis 18 [RCV001445272] Chr12:94310030 [GRCh38]
Chr12:94703806 [GRCh37]
Chr12:12q22		 likely benign
NM_016122.3(CEP83):c.1427G>T (p.Ser476Ile) single nucleotide variant Nephronophthisis 18 [RCV001445278] Chr12:94333632 [GRCh38]
Chr12:94727408 [GRCh37]
Chr12:12q22		 likely benign
NM_016122.3(CEP83):c.120A>G (p.Leu40=) single nucleotide variant Nephronophthisis 18 [RCV001404147] Chr12:94412371 [GRCh38]
Chr12:94806147 [GRCh37]
Chr12:12q22		 likely benign
NM_016122.3(CEP83):c.1101G>C (p.Val367=) single nucleotide variant Nephronophthisis 18 [RCV001468637] Chr12:94368149 [GRCh38]
Chr12:94761925 [GRCh37]
Chr12:12q22		 likely benign
NM_016122.3(CEP83):c.2097C>T (p.Ser699=) single nucleotide variant Nephronophthisis 18 [RCV001469417] Chr12:94308822 [GRCh38]
Chr12:94702598 [GRCh37]
Chr12:12q22		 likely benign
NM_016122.3(CEP83):c.549+15A>G single nucleotide variant Nephronophthisis 18 [RCV001491392] Chr12:94400835 [GRCh38]
Chr12:94794611 [GRCh37]
Chr12:12q22		 likely benign
NM_016122.3(CEP83):c.549+219G>C single nucleotide variant not provided [RCV001693868] Chr12:94400631 [GRCh38]
Chr12:94794407 [GRCh37]
Chr12:12q22		 benign
NM_016122.3(CEP83):c.174-141G>A single nucleotide variant not provided [RCV001687242] Chr12:94411988 [GRCh38]
Chr12:94805764 [GRCh37]
Chr12:12q22		 benign
NM_016122.3(CEP83):c.801+7T>G single nucleotide variant Nephronophthisis 18 [RCV001503537] Chr12:94378784 [GRCh38]
Chr12:94772560 [GRCh37]
Chr12:12q22		 likely benign
NM_016122.3(CEP83):c.837T>C (p.Arg279=) single nucleotide variant Nephronophthisis 18 [RCV001511284]|not provided [RCV001534211] Chr12:94375982 [GRCh38]
Chr12:94769758 [GRCh37]
Chr12:12q22		 benign
NM_016122.3(CEP83):c.-101-118dup duplication not provided [RCV001709924] Chr12:94412693..94412694 [GRCh38]
Chr12:94806469..94806470 [GRCh37]
Chr12:12q22		 benign
NM_016122.3(CEP83):c.418-44C>T single nucleotide variant not provided [RCV001667726] Chr12:94401025 [GRCh38]
Chr12:94794801 [GRCh37]
Chr12:12q22		 benign
NM_016122.3(CEP83):c.786A>G (p.Thr262=) single nucleotide variant Nephronophthisis 18 [RCV001522908] Chr12:94378806 [GRCh38]
Chr12:94772582 [GRCh37]
Chr12:12q22		 benign
NM_016122.3(CEP83):c.1060_1063del (p.Asp354fs) deletion Nephronophthisis 18 [RCV001384613] Chr12:94368187..94368190 [GRCh38]
Chr12:94761963..94761966 [GRCh37]
Chr12:12q22		 pathogenic
NM_016122.3(CEP83):c.1812-7T>C single nucleotide variant Nephronophthisis 18 [RCV001450703] Chr12:94310114 [GRCh38]
Chr12:94703890 [GRCh37]
Chr12:12q22		 likely benign
NM_016122.3(CEP83):c.324+12T>A single nucleotide variant Nephronophthisis 18 [RCV001518656] Chr12:94411685 [GRCh38]
Chr12:94805461 [GRCh37]
Chr12:12q22		 benign
NM_016122.3(CEP83):c.2016A>G (p.Gln672=) single nucleotide variant Nephronophthisis 18 [RCV001502405] Chr12:94308903 [GRCh38]
Chr12:94702679 [GRCh37]
Chr12:12q22		 likely benign
NM_016122.3(CEP83):c.201A>G (p.Gln67=) single nucleotide variant Nephronophthisis 18 [RCV001498204] Chr12:94411820 [GRCh38]
Chr12:94805596 [GRCh37]
Chr12:12q22		 likely benign
NM_016122.3(CEP83):c.1554A>G (p.Glu518=) single nucleotide variant Nephronophthisis 18 [RCV001498362] Chr12:94333505 [GRCh38]
Chr12:94727281 [GRCh37]
Chr12:12q22		 likely benign
NM_016122.3(CEP83):c.626G>A (p.Arg209Gln) single nucleotide variant Nephronophthisis 18 [RCV001511538]|not provided [RCV001534773] Chr12:94378966 [GRCh38]
Chr12:94772742 [GRCh37]
Chr12:12q22		 benign
NM_016122.3(CEP83):c.831A>G (p.Ala277=) single nucleotide variant Nephronophthisis 18 [RCV001454033] Chr12:94375988 [GRCh38]
Chr12:94769764 [GRCh37]
Chr12:12q22		 likely benign
NM_016122.3(CEP83):c.855A>G (p.Gln285=) single nucleotide variant Nephronophthisis 18 [RCV001483456] Chr12:94375964 [GRCh38]
Chr12:94769740 [GRCh37]
Chr12:12q22		 likely benign
NM_016122.3(CEP83):c.174-5del deletion Nephronophthisis 18 [RCV001476607] Chr12:94411852 [GRCh38]
Chr12:94805628 [GRCh37]
Chr12:12q22		 likely benign
NM_016122.3(CEP83):c.21C>T (p.Thr7=) single nucleotide variant Nephronophthisis 18 [RCV001443643] Chr12:94412470 [GRCh38]
Chr12:94806246 [GRCh37]
Chr12:12q22		 likely benign
NM_016122.3(CEP83):c.1212A>G (p.Arg404=) single nucleotide variant Nephronophthisis 18 [RCV001511537]|not provided [RCV001725220] Chr12:94367925 [GRCh38]
Chr12:94761701 [GRCh37]
Chr12:12q22		 benign
NM_016122.3(CEP83):c.87G>A (p.Ser29=) single nucleotide variant Nephronophthisis 18 [RCV001393609] Chr12:94412404 [GRCh38]
Chr12:94806180 [GRCh37]
Chr12:12q22		 likely benign
NM_016122.3(CEP83):c.1680G>T (p.Leu560=) single nucleotide variant Nephronophthisis 18 [RCV001426372] Chr12:94331727 [GRCh38]
Chr12:94725503 [GRCh37]
Chr12:12q22		 likely benign
NM_016122.3(CEP83):c.2046A>G (p.Leu682=) single nucleotide variant Nephronophthisis 18 [RCV001483999] Chr12:94308873 [GRCh38]
Chr12:94702649 [GRCh37]
Chr12:12q22		 likely benign
NM_016122.3(CEP83):c.826C>T (p.Arg276Trp) single nucleotide variant Nephronophthisis 18 [RCV001518174]|not provided [RCV001655768] Chr12:94375993 [GRCh38]
Chr12:94769769 [GRCh37]
Chr12:12q22		 benign
NM_016122.3(CEP83):c.1983A>G (p.Pro661=) single nucleotide variant Nephronophthisis 18 [RCV001428404] Chr12:94309936 [GRCh38]
Chr12:94703712 [GRCh37]
Chr12:12q22		 likely benign
NM_016122.3(CEP83):c.417+13T>C single nucleotide variant Nephronophthisis 18 [RCV001505870] Chr12:94403157 [GRCh38]
Chr12:94796933 [GRCh37]
Chr12:12q22		 likely benign
NM_016122.3(CEP83):c.1739G>A (p.Arg580Lys) single nucleotide variant not provided [RCV001761253] Chr12:94312986 [GRCh38]
Chr12:94706762 [GRCh37]
Chr12:12q22		 uncertain significance
NC_000012.11:g.94767704_94880489del deletion Megacolon [RCV001290083] Chr12:94767704..94880489 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.1056G>A (p.Gln352=) single nucleotide variant Nephronophthisis 18 [RCV002542518]|not specified [RCV001817242] Chr12:94368194 [GRCh38]
Chr12:94761970 [GRCh37]
Chr12:12q22		 likely benign|uncertain significance
NM_016122.3(CEP83):c.1175T>G (p.Val392Gly) single nucleotide variant Nephronophthisis 18 [RCV001929142] Chr12:94368075 [GRCh38]
Chr12:94761851 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.1649A>G (p.Glu550Gly) single nucleotide variant Nephronophthisis 18 [RCV001911941] Chr12:94331758 [GRCh38]
Chr12:94725534 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.232C>A (p.Gln78Lys) single nucleotide variant Nephronophthisis 18 [RCV002045243] Chr12:94411789 [GRCh38]
Chr12:94805565 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.606del (p.Leu203fs) deletion Nephronophthisis 18 [RCV001949388] Chr12:94378986 [GRCh38]
Chr12:94772762 [GRCh37]
Chr12:12q22		 pathogenic
NM_016122.3(CEP83):c.549+18C>T single nucleotide variant Nephronophthisis 18 [RCV001982900] Chr12:94400832 [GRCh38]
Chr12:94794608 [GRCh37]
Chr12:12q22		 likely benign
NM_016122.3(CEP83):c.2039A>G (p.Lys680Arg) single nucleotide variant Nephronophthisis 18 [RCV001968791] Chr12:94308880 [GRCh38]
Chr12:94702656 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.174-12A>T single nucleotide variant Nephronophthisis 18 [RCV001965647] Chr12:94411859 [GRCh38]
Chr12:94805635 [GRCh37]
Chr12:12q22		 likely benign
NM_016122.3(CEP83):c.614A>G (p.Lys205Arg) single nucleotide variant Nephronophthisis 18 [RCV001966725] Chr12:94378978 [GRCh38]
Chr12:94772754 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.1708-239A>G single nucleotide variant not provided [RCV001823362] Chr12:94313256 [GRCh38]
Chr12:94707032 [GRCh37]
Chr12:12q22		 likely benign
NM_016122.3(CEP83):c.499G>T (p.Glu167Ter) single nucleotide variant Nephronophthisis 18 [RCV002002375] Chr12:94400900 [GRCh38]
Chr12:94794676 [GRCh37]
Chr12:12q22		 pathogenic
NM_016122.3(CEP83):c.455G>T (p.Arg152Leu) single nucleotide variant Nephronophthisis 18 [RCV001985535] Chr12:94400944 [GRCh38]
Chr12:94794720 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.827G>A (p.Arg276Gln) single nucleotide variant Nephronophthisis 18 [RCV002003238] Chr12:94375992 [GRCh38]
Chr12:94769768 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.584G>A (p.Arg195His) single nucleotide variant Nephronophthisis 18 [RCV002040366] Chr12:94379008 [GRCh38]
Chr12:94772784 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.397C>T (p.Arg133Cys) single nucleotide variant Nephronophthisis 18 [RCV001872117]|not provided [RCV003481147] Chr12:94403190 [GRCh38]
Chr12:94796966 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.1532G>A (p.Arg511Gln) single nucleotide variant Nephronophthisis 18 [RCV001910561] Chr12:94333527 [GRCh38]
Chr12:94727303 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.1982C>T (p.Pro661Leu) single nucleotide variant Nephronophthisis 18 [RCV001894351] Chr12:94309937 [GRCh38]
Chr12:94703713 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.728C>T (p.Ala243Val) single nucleotide variant Nephronophthisis 18 [RCV002024217] Chr12:94378864 [GRCh38]
Chr12:94772640 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.1311_1315del (p.Glu437fs) deletion Nephronophthisis 18 [RCV001949012] Chr12:94367822..94367826 [GRCh38]
Chr12:94761598..94761602 [GRCh37]
Chr12:12q22		 pathogenic
NM_016122.3(CEP83):c.*200T>C single nucleotide variant not provided [RCV001823363] Chr12:94308613 [GRCh38]
Chr12:94702389 [GRCh37]
Chr12:12q22		 likely benign
NM_016122.3(CEP83):c.1537T>A (p.Phe513Ile) single nucleotide variant Nephronophthisis 18 [RCV001948208] Chr12:94333522 [GRCh38]
Chr12:94727298 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.701T>C (p.Leu234Ser) single nucleotide variant Nephronophthisis 18 [RCV001984313] Chr12:94378891 [GRCh38]
Chr12:94772667 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.1318A>T (p.Thr440Ser) single nucleotide variant Nephronophthisis 18 [RCV002042615] Chr12:94367819 [GRCh38]
Chr12:94761595 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.583C>T (p.Arg195Cys) single nucleotide variant Nephronophthisis 18 [RCV001911691] Chr12:94379009 [GRCh38]
Chr12:94772785 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.1055A>G (p.Gln352Arg) single nucleotide variant Nephronophthisis 18 [RCV002021644] Chr12:94368195 [GRCh38]
Chr12:94761971 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.611C>G (p.Thr204Arg) single nucleotide variant Nephronophthisis 18 [RCV002020308] Chr12:94378981 [GRCh38]
Chr12:94772757 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.50C>T (p.Pro17Leu) single nucleotide variant Inborn genetic diseases [RCV004041570]|Nephronophthisis 18 [RCV001887261] Chr12:94412441 [GRCh38]
Chr12:94806217 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.1183C>G (p.Gln395Glu) single nucleotide variant Nephronophthisis 18 [RCV001997608] Chr12:94368067 [GRCh38]
Chr12:94761843 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.1462_1465del (p.Ser488fs) deletion Nephronophthisis 18 [RCV001941874] Chr12:94333594..94333597 [GRCh38]
Chr12:94727370..94727373 [GRCh37]
Chr12:12q22		 pathogenic
NM_016122.3(CEP83):c.249A>T (p.Lys83Asn) single nucleotide variant Nephronophthisis 18 [RCV001944797] Chr12:94411772 [GRCh38]
Chr12:94805548 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.618C>G (p.Asp206Glu) single nucleotide variant Nephronophthisis 18 [RCV001944258] Chr12:94378974 [GRCh38]
Chr12:94772750 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.2045T>C (p.Leu682Pro) single nucleotide variant Nephronophthisis 18 [RCV001880775] Chr12:94308874 [GRCh38]
Chr12:94702650 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.166C>A (p.His56Asn) single nucleotide variant Nephronophthisis 18 [RCV001995852] Chr12:94412325 [GRCh38]
Chr12:94806101 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.842A>G (p.Glu281Gly) single nucleotide variant Nephronophthisis 18 [RCV002039073] Chr12:94375977 [GRCh38]
Chr12:94769753 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.1853G>T (p.Arg618Ile) single nucleotide variant Nephronophthisis 18 [RCV001993038] Chr12:94310066 [GRCh38]
Chr12:94703842 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.434G>T (p.Arg145Ile) single nucleotide variant Nephronophthisis 18 [RCV001887886] Chr12:94400965 [GRCh38]
Chr12:94794741 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.1532G>T (p.Arg511Leu) single nucleotide variant Nephronophthisis 18 [RCV001917487] Chr12:94333527 [GRCh38]
Chr12:94727303 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.1165C>T (p.Gln389Ter) single nucleotide variant Nephronophthisis 18 [RCV001933612] Chr12:94368085 [GRCh38]
Chr12:94761861 [GRCh37]
Chr12:12q22		 pathogenic
NM_016122.3(CEP83):c.662G>A (p.Cys221Tyr) single nucleotide variant Nephronophthisis 18 [RCV001900392] Chr12:94378930 [GRCh38]
Chr12:94772706 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.41A>G (p.Asn14Ser) single nucleotide variant Nephronophthisis 18 [RCV001903843] Chr12:94412450 [GRCh38]
Chr12:94806226 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.2035C>T (p.Arg679Cys) single nucleotide variant Inborn genetic diseases [RCV002562901]|Nephronophthisis 18 [RCV001955980] Chr12:94308884 [GRCh38]
Chr12:94702660 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.535A>C (p.Lys179Gln) single nucleotide variant Nephronophthisis 18 [RCV001867467] Chr12:94400864 [GRCh38]
Chr12:94794640 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.1542_1558del (p.Arg514fs) deletion Nephronophthisis 18 [RCV001934053] Chr12:94333501..94333517 [GRCh38]
Chr12:94727277..94727293 [GRCh37]
Chr12:12q22		 pathogenic
NM_016122.3(CEP83):c.749G>T (p.Arg250Ile) single nucleotide variant Nephronophthisis 18 [RCV001879207] Chr12:94378843 [GRCh38]
Chr12:94772619 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.644G>A (p.Arg215Gln) single nucleotide variant Nephronophthisis 18 [RCV001917102] Chr12:94378948 [GRCh38]
Chr12:94772724 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.792A>G (p.Arg264=) single nucleotide variant Nephronophthisis 18 [RCV002030166] Chr12:94378800 [GRCh38]
Chr12:94772576 [GRCh37]
Chr12:12q22		 likely benign|uncertain significance
NM_016122.3(CEP83):c.671T>C (p.Leu224Ser) single nucleotide variant Inborn genetic diseases [RCV002548010]|Nephronophthisis 18 [RCV001865043] Chr12:94378921 [GRCh38]
Chr12:94772697 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.569A>G (p.Asp190Gly) single nucleotide variant Nephronophthisis 18 [RCV001919840] Chr12:94379023 [GRCh38]
Chr12:94772799 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.1486A>G (p.Asn496Asp) single nucleotide variant Nephronophthisis 18 [RCV001865047] Chr12:94333573 [GRCh38]
Chr12:94727349 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.497A>C (p.Lys166Thr) single nucleotide variant Nephronophthisis 18 [RCV001869923] Chr12:94400902 [GRCh38]
Chr12:94794678 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.1812-6T>C single nucleotide variant Nephronophthisis 18 [RCV001902856] Chr12:94310113 [GRCh38]
Chr12:94703889 [GRCh37]
Chr12:12q22		 likely benign|uncertain significance
NM_016122.3(CEP83):c.1243C>G (p.His415Asp) single nucleotide variant Nephronophthisis 18 [RCV001903496] Chr12:94367894 [GRCh38]
Chr12:94761670 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.1344-4T>G single nucleotide variant Nephronophthisis 18 [RCV001933362] Chr12:94335668 [GRCh38]
Chr12:94729444 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.1895T>C (p.Leu632Pro) single nucleotide variant Nephronophthisis 18 [RCV002030657] Chr12:94310024 [GRCh38]
Chr12:94703800 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.629T>G (p.Val210Gly) single nucleotide variant Nephronophthisis 18 [RCV002033315] Chr12:94378963 [GRCh38]
Chr12:94772739 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.1451C>A (p.Ser484Ter) single nucleotide variant Nephronophthisis 18 [RCV001925052] Chr12:94333608 [GRCh38]
Chr12:94727384 [GRCh37]
Chr12:12q22		 pathogenic
NM_016122.3(CEP83):c.464A>G (p.His155Arg) single nucleotide variant Nephronophthisis 18 [RCV001882306] Chr12:94400935 [GRCh38]
Chr12:94794711 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.550-1G>A single nucleotide variant Nephronophthisis 18 [RCV001974117] Chr12:94379043 [GRCh38]
Chr12:94772819 [GRCh37]
Chr12:12q22		 likely pathogenic
NM_016122.3(CEP83):c.1440C>G (p.Ile480Met) single nucleotide variant Nephronophthisis 18 [RCV001992638] Chr12:94333619 [GRCh38]
Chr12:94727395 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.1867C>T (p.Gln623Ter) single nucleotide variant Nephronophthisis 18 [RCV001932813] Chr12:94310052 [GRCh38]
Chr12:94703828 [GRCh37]
Chr12:12q22		 pathogenic
NM_016122.3(CEP83):c.1016G>C (p.Arg339Thr) single nucleotide variant Nephronophthisis 18 [RCV001937442]|not provided [RCV003314699] Chr12:94369954 [GRCh38]
Chr12:94763730 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.166C>T (p.His56Tyr) single nucleotide variant Inborn genetic diseases [RCV003167217]|Nephronophthisis 18 [RCV001940550] Chr12:94412325 [GRCh38]
Chr12:94806101 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.1621A>T (p.Lys541Ter) single nucleotide variant Nephronophthisis 18 [RCV001979772] Chr12:94331786 [GRCh38]
Chr12:94725562 [GRCh37]
Chr12:12q22		 pathogenic
NM_016122.3(CEP83):c.934G>A (p.Val312Ile) single nucleotide variant Nephronophthisis 18 [RCV002048938] Chr12:94370036 [GRCh38]
Chr12:94763812 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.2043A>T (p.Arg681Ser) single nucleotide variant Nephronophthisis 18 [RCV001866887] Chr12:94308876 [GRCh38]
Chr12:94702652 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.1685G>A (p.Arg562Gln) single nucleotide variant Nephronophthisis 18 [RCV002049195] Chr12:94331722 [GRCh38]
Chr12:94725498 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.1400A>G (p.Glu467Gly) single nucleotide variant Nephronophthisis 18 [RCV001990695] Chr12:94335608 [GRCh38]
Chr12:94729384 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.2027C>G (p.Ser676Cys) single nucleotide variant Nephronophthisis 18 [RCV002017377]|not provided [RCV002272559] Chr12:94308892 [GRCh38]
Chr12:94702668 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.695C>T (p.Ala232Val) single nucleotide variant Nephronophthisis 18 [RCV001996878] Chr12:94378897 [GRCh38]
Chr12:94772673 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.812A>C (p.Gln271Pro) single nucleotide variant Nephronophthisis 18 [RCV002050400] Chr12:94376007 [GRCh38]
Chr12:94769783 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.1655A>T (p.Lys552Met) single nucleotide variant Nephronophthisis 18 [RCV001924740] Chr12:94331752 [GRCh38]
Chr12:94725528 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.1028A>G (p.Lys343Arg) single nucleotide variant Nephronophthisis 18 [RCV001916512] Chr12:94369942 [GRCh38]
Chr12:94763718 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.581T>C (p.Leu194Pro) single nucleotide variant Nephronophthisis 18 [RCV001924035] Chr12:94379011 [GRCh38]
Chr12:94772787 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.1531C>T (p.Arg511Ter) single nucleotide variant Nephronophthisis 18 [RCV001866359] Chr12:94333528 [GRCh38]
Chr12:94727304 [GRCh37]
Chr12:12q22		 pathogenic
NM_016122.3(CEP83):c.1419+4T>G single nucleotide variant Nephronophthisis 18 [RCV001930749] Chr12:94335585 [GRCh38]
Chr12:94729361 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.422T>C (p.Val141Ala) single nucleotide variant Nephronophthisis 18 [RCV001975920] Chr12:94400977 [GRCh38]
Chr12:94794753 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.802-15T>C single nucleotide variant Nephronophthisis 18 [RCV002085234] Chr12:94376032 [GRCh38]
Chr12:94769808 [GRCh37]
Chr12:12q22		 likely benign
NM_016122.3(CEP83):c.2001+20G>T single nucleotide variant Nephronophthisis 18 [RCV002073929] Chr12:94309898 [GRCh38]
Chr12:94703674 [GRCh37]
Chr12:12q22		 likely benign
NM_016122.3(CEP83):c.1343+18A>G single nucleotide variant Nephronophthisis 18 [RCV002109226] Chr12:94367776 [GRCh38]
Chr12:94761552 [GRCh37]
Chr12:12q22		 likely benign
NM_016122.3(CEP83):c.352C>T (p.Leu118=) single nucleotide variant Nephronophthisis 18 [RCV002191392] Chr12:94403235 [GRCh38]
Chr12:94797011 [GRCh37]
Chr12:12q22		 likely benign
NM_016122.3(CEP83):c.456C>A (p.Arg152=) single nucleotide variant Nephronophthisis 18 [RCV002111259] Chr12:94400943 [GRCh38]
Chr12:94794719 [GRCh37]
Chr12:12q22		 likely benign
NM_016122.3(CEP83):c.2031A>G (p.Leu677=) single nucleotide variant Nephronophthisis 18 [RCV002108439] Chr12:94308888 [GRCh38]
Chr12:94702664 [GRCh37]
Chr12:12q22		 likely benign
NM_016122.3(CEP83):c.258C>T (p.Leu86=) single nucleotide variant Nephronophthisis 18 [RCV002090840] Chr12:94411763 [GRCh38]
Chr12:94805539 [GRCh37]
Chr12:12q22		 likely benign
NM_016122.3(CEP83):c.1419+14G>A single nucleotide variant Nephronophthisis 18 [RCV002090749] Chr12:94335575 [GRCh38]
Chr12:94729351 [GRCh37]
Chr12:12q22		 likely benign
NM_016122.3(CEP83):c.1539T>C (p.Phe513=) single nucleotide variant Nephronophthisis 18 [RCV002165447] Chr12:94333520 [GRCh38]
Chr12:94727296 [GRCh37]
Chr12:12q22		 likely benign
NM_016122.3(CEP83):c.174-16C>T single nucleotide variant Nephronophthisis 18 [RCV002206495] Chr12:94411863 [GRCh38]
Chr12:94805639 [GRCh37]
Chr12:12q22		 likely benign
NM_016122.3(CEP83):c.1194-15_1194-13del deletion Nephronophthisis 18 [RCV002169713] Chr12:94367956..94367958 [GRCh38]
Chr12:94761732..94761734 [GRCh37]
Chr12:12q22		 likely benign
NM_016122.3(CEP83):c.1049-11A>G single nucleotide variant Nephronophthisis 18 [RCV002168941] Chr12:94368212 [GRCh38]
Chr12:94761988 [GRCh37]
Chr12:12q22		 likely benign
NM_016122.3(CEP83):c.1791A>G (p.Thr597=) single nucleotide variant Nephronophthisis 18 [RCV002208390] Chr12:94312934 [GRCh38]
Chr12:94706710 [GRCh37]
Chr12:12q22		 likely benign
NM_016122.3(CEP83):c.1878T>C (p.His626=) single nucleotide variant Nephronophthisis 18 [RCV002128045] Chr12:94310041 [GRCh38]
Chr12:94703817 [GRCh37]
Chr12:12q22		 likely benign
NM_016122.3(CEP83):c.1194-13T>G single nucleotide variant Nephronophthisis 18 [RCV002171595] Chr12:94367956 [GRCh38]
Chr12:94761732 [GRCh37]
Chr12:12q22		 likely benign
NM_016122.3(CEP83):c.933+19C>A single nucleotide variant Nephronophthisis 18 [RCV002128857] Chr12:94375867 [GRCh38]
Chr12:94769643 [GRCh37]
Chr12:12q22		 likely benign
NM_016122.3(CEP83):c.1776A>G (p.Lys592=) single nucleotide variant Nephronophthisis 18 [RCV002117448] Chr12:94312949 [GRCh38]
Chr12:94706725 [GRCh37]
Chr12:12q22		 likely benign
NM_016122.3(CEP83):c.1560G>A (p.Ala520=) single nucleotide variant Nephronophthisis 18 [RCV002167186] Chr12:94333499 [GRCh38]
Chr12:94727275 [GRCh37]
Chr12:12q22		 likely benign
NM_016122.3(CEP83):c.1344-11G>A single nucleotide variant Nephronophthisis 18 [RCV002215932] Chr12:94335675 [GRCh38]
Chr12:94729451 [GRCh37]
Chr12:12q22		 likely benign
NM_016122.3(CEP83):c.549+19G>A single nucleotide variant Nephronophthisis 18 [RCV002206696] Chr12:94400831 [GRCh38]
Chr12:94794607 [GRCh37]
Chr12:12q22		 likely benign
NM_016122.3(CEP83):c.984G>C (p.Leu328=) single nucleotide variant Nephronophthisis 18 [RCV002210100] Chr12:94369986 [GRCh38]
Chr12:94763762 [GRCh37]
Chr12:12q22		 likely benign
NM_016122.3(CEP83):c.540T>C (p.Tyr180=) single nucleotide variant Nephronophthisis 18 [RCV002095201] Chr12:94400859 [GRCh38]
Chr12:94794635 [GRCh37]
Chr12:12q22		 likely benign
NM_016122.3(CEP83):c.1347A>G (p.Leu449=) single nucleotide variant Nephronophthisis 18 [RCV002080408] Chr12:94335661 [GRCh38]
Chr12:94729437 [GRCh37]
Chr12:12q22		 likely benign
NM_016122.3(CEP83):c.324+18A>C single nucleotide variant Nephronophthisis 18 [RCV002212874] Chr12:94411679 [GRCh38]
Chr12:94805455 [GRCh37]
Chr12:12q22		 likely benign
NM_016122.3(CEP83):c.2076A>G (p.Gln692=) single nucleotide variant Nephronophthisis 18 [RCV002195477] Chr12:94308843 [GRCh38]
Chr12:94702619 [GRCh37]
Chr12:12q22		 likely benign
NM_016122.3(CEP83):c.1420-17C>G single nucleotide variant Nephronophthisis 18 [RCV002115336] Chr12:94333656 [GRCh38]
Chr12:94727432 [GRCh37]
Chr12:12q22		 likely benign
NM_016122.3(CEP83):c.1863T>C (p.Asp621=) single nucleotide variant Nephronophthisis 18 [RCV002212733] Chr12:94310056 [GRCh38]
Chr12:94703832 [GRCh37]
Chr12:12q22		 likely benign
NM_016122.3(CEP83):c.1035A>G (p.Gln345=) single nucleotide variant Nephronophthisis 18 [RCV002094992] Chr12:94369935 [GRCh38]
Chr12:94763711 [GRCh37]
Chr12:12q22		 likely benign
NM_016122.3(CEP83):c.1116G>A (p.Lys372=) single nucleotide variant Nephronophthisis 18 [RCV002215030] Chr12:94368134 [GRCh38]
Chr12:94761910 [GRCh37]
Chr12:12q22		 likely benign
NM_016122.3(CEP83):c.480A>G (p.Ser160=) single nucleotide variant Nephronophthisis 18 [RCV002197878] Chr12:94400919 [GRCh38]
Chr12:94794695 [GRCh37]
Chr12:12q22		 likely benign
NM_016122.3(CEP83):c.1049-19T>G single nucleotide variant Nephronophthisis 18 [RCV002220296] Chr12:94368220 [GRCh38]
Chr12:94761996 [GRCh37]
Chr12:12q22		 likely benign
NM_016122.3(CEP83):c.1578-14C>T single nucleotide variant Nephronophthisis 18 [RCV002177316] Chr12:94331843 [GRCh38]
Chr12:94725619 [GRCh37]
Chr12:12q22		 likely benign
NM_016122.3(CEP83):c.933+12T>C single nucleotide variant Nephronophthisis 18 [RCV002123844] Chr12:94375874 [GRCh38]
Chr12:94769650 [GRCh37]
Chr12:12q22		 likely benign
NM_016122.3(CEP83):c.1420-14del deletion Nephronophthisis 18 [RCV002179603] Chr12:94333653 [GRCh38]
Chr12:94727429 [GRCh37]
Chr12:12q22		 likely benign
NM_016122.3(CEP83):c.1713A>G (p.Lys571=) single nucleotide variant Nephronophthisis 18 [RCV002217456] Chr12:94313012 [GRCh38]
Chr12:94706788 [GRCh37]
Chr12:12q22		 likely benign
NM_016122.3(CEP83):c.801+20C>G single nucleotide variant Nephronophthisis 18 [RCV002183241] Chr12:94378771 [GRCh38]
Chr12:94772547 [GRCh37]
Chr12:12q22		 likely benign
NM_016122.3(CEP83):c.24T>C (p.Asp8=) single nucleotide variant CEP83-related condition [RCV003968820]|Nephronophthisis 18 [RCV002217323] Chr12:94412467 [GRCh38]
Chr12:94806243 [GRCh37]
Chr12:12q22		 likely benign
NM_016122.3(CEP83):c.933+14T>C single nucleotide variant Nephronophthisis 18 [RCV002143730] Chr12:94375872 [GRCh38]
Chr12:94769648 [GRCh37]
Chr12:12q22		 likely benign
NM_016122.3(CEP83):c.1323G>A (p.Arg441=) single nucleotide variant Nephronophthisis 18 [RCV002118663] Chr12:94367814 [GRCh38]
Chr12:94761590 [GRCh37]
Chr12:12q22		 likely benign
NM_016122.3(CEP83):c.858A>G (p.Ser286=) single nucleotide variant Nephronophthisis 18 [RCV002176588] Chr12:94375961 [GRCh38]
Chr12:94769737 [GRCh37]
Chr12:12q22		 likely benign
NM_016122.3(CEP83):c.921A>G (p.Thr307=) single nucleotide variant Nephronophthisis 18 [RCV002202806] Chr12:94375898 [GRCh38]
Chr12:94769674 [GRCh37]
Chr12:12q22		 likely benign
NM_016122.3(CEP83):c.1577+9T>G single nucleotide variant Nephronophthisis 18 [RCV002182528] Chr12:94333473 [GRCh38]
Chr12:94727249 [GRCh37]
Chr12:12q22		 likely benign
NM_016122.3(CEP83):c.417+13del deletion Nephronophthisis 18 [RCV002097992] Chr12:94403157 [GRCh38]
Chr12:94796933 [GRCh37]
Chr12:12q22		 likely benign
NM_016122.3(CEP83):c.418-13A>G single nucleotide variant Nephronophthisis 18 [RCV002181261] Chr12:94400994 [GRCh38]
Chr12:94794770 [GRCh37]
Chr12:12q22		 likely benign
NM_016122.3(CEP83):c.801+19C>A single nucleotide variant Nephronophthisis 18 [RCV002136290] Chr12:94378772 [GRCh38]
Chr12:94772548 [GRCh37]
Chr12:12q22		 likely benign
NM_016122.3(CEP83):c.612A>G (p.Thr204=) single nucleotide variant Nephronophthisis 18 [RCV002156979] Chr12:94378980 [GRCh38]
Chr12:94772756 [GRCh37]
Chr12:12q22		 likely benign
NM_016122.3(CEP83):c.325-12T>G single nucleotide variant Nephronophthisis 18 [RCV002155169] Chr12:94403274 [GRCh38]
Chr12:94797050 [GRCh37]
Chr12:12q22		 likely benign
NM_016122.3(CEP83):c.1761C>A (p.Val587=) single nucleotide variant Nephronophthisis 18 [RCV002156747] Chr12:94312964 [GRCh38]
Chr12:94706740 [GRCh37]
Chr12:12q22		 likely benign
NM_016122.3(CEP83):c.153A>T (p.Thr51=) single nucleotide variant Nephronophthisis 18 [RCV002200995] Chr12:94412338 [GRCh38]
Chr12:94806114 [GRCh37]
Chr12:12q22		 likely benign
NM_016122.3(CEP83):c.1590G>A (p.Glu530=) single nucleotide variant Nephronophthisis 18 [RCV002204749] Chr12:94331817 [GRCh38]
Chr12:94725593 [GRCh37]
Chr12:12q22		 likely benign
NM_016122.3(CEP83):c.1948C>T (p.Gln650Ter) single nucleotide variant Nephronophthisis 18 [RCV003112252] Chr12:94309971 [GRCh38]
Chr12:94703747 [GRCh37]
Chr12:12q22		 pathogenic
NM_016122.3(CEP83):c.398G>A (p.Arg133His) single nucleotide variant Nephronophthisis 18 [RCV003112913] Chr12:94403189 [GRCh38]
Chr12:94796965 [GRCh37]
Chr12:12q22		 uncertain significance
NC_000012.11:g.(?_94794606)_(94806266_?)del deletion Nephronophthisis 18 [RCV003119707] Chr12:94794606..94806266 [GRCh37]
Chr12:12q22		 pathogenic
NM_016122.3(CEP83):c.417+16T>C single nucleotide variant Nephronophthisis 18 [RCV003121747] Chr12:94403154 [GRCh38]
Chr12:94796930 [GRCh37]
Chr12:12q22		 likely benign
NM_016122.3(CEP83):c.835_837delinsTGC (p.Arg279Cys) indel not provided [RCV003156418] Chr12:94375982..94375984 [GRCh38]
Chr12:94769758..94769760 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.1987C>A (p.Pro663Thr) single nucleotide variant Nephronophthisis 18 [RCV002303353] Chr12:94309932 [GRCh38]
Chr12:94703708 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.964G>A (p.Glu322Lys) single nucleotide variant Nephronophthisis 18 [RCV002301494] Chr12:94370006 [GRCh38]
Chr12:94763782 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.1022G>C (p.Arg341Thr) single nucleotide variant Nephronophthisis 18 [RCV002295860] Chr12:94369948 [GRCh38]
Chr12:94763724 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.1915C>G (p.Pro639Ala) single nucleotide variant Nephronophthisis 18 [RCV002296453] Chr12:94310004 [GRCh38]
Chr12:94703780 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.369A>G (p.Gln123=) single nucleotide variant Nephronophthisis 18 [RCV002967986] Chr12:94403218 [GRCh38]
Chr12:94796994 [GRCh37]
Chr12:12q22		 likely benign
NM_016122.3(CEP83):c.1343+12A>G single nucleotide variant Nephronophthisis 18 [RCV002904824] Chr12:94367782 [GRCh38]
Chr12:94761558 [GRCh37]
Chr12:12q22		 likely benign
NM_016122.3(CEP83):c.507T>C (p.Tyr169=) single nucleotide variant Nephronophthisis 18 [RCV003032616] Chr12:94400892 [GRCh38]
Chr12:94794668 [GRCh37]
Chr12:12q22		 likely benign
NM_016122.3(CEP83):c.418-15G>A single nucleotide variant Nephronophthisis 18 [RCV002750456] Chr12:94400996 [GRCh38]
Chr12:94794772 [GRCh37]
Chr12:12q22		 likely benign
NM_016122.3(CEP83):c.1823C>A (p.Pro608His) single nucleotide variant Inborn genetic diseases [RCV002729134] Chr12:94310096 [GRCh38]
Chr12:94703872 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.1945T>C (p.Phe649Leu) single nucleotide variant Nephronophthisis 18 [RCV003012131] Chr12:94309974 [GRCh38]
Chr12:94703750 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.286G>T (p.Val96Leu) single nucleotide variant Nephronophthisis 18 [RCV002731141] Chr12:94411735 [GRCh38]
Chr12:94805511 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.1988C>T (p.Pro663Leu) single nucleotide variant Nephronophthisis 18 [RCV002816286] Chr12:94309931 [GRCh38]
Chr12:94703707 [GRCh37]
Chr12:12q22		 uncertain significance
NM_005761.3(PLXNC1):c.4275C>A (p.Asn1425Lys) single nucleotide variant not specified [RCV004146179] Chr12:94300946 [GRCh38]
Chr12:94694722 [GRCh37]
Chr12:12q22		 uncertain significance
NM_005761.3(PLXNC1):c.3980C>T (p.Ser1327Leu) single nucleotide variant not specified [RCV004224338] Chr12:94297329 [GRCh38]
Chr12:94691105 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.1962G>A (p.Met654Ile) single nucleotide variant Nephronophthisis 18 [RCV002839536] Chr12:94309957 [GRCh38]
Chr12:94703733 [GRCh37]
Chr12:12q22		 uncertain significance
NM_005761.3(PLXNC1):c.4585G>A (p.Val1529Ile) single nucleotide variant not specified [RCV004216302] Chr12:94304034 [GRCh38]
Chr12:94697810 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.1327G>T (p.Glu443Ter) single nucleotide variant Nephronophthisis 18 [RCV002881285] Chr12:94367810 [GRCh38]
Chr12:94761586 [GRCh37]
Chr12:12q22		 pathogenic
NM_016122.3(CEP83):c.1980A>T (p.Leu660=) single nucleotide variant Nephronophthisis 18 [RCV002881085] Chr12:94309939 [GRCh38]
Chr12:94703715 [GRCh37]
Chr12:12q22		 likely benign
NM_016122.3(CEP83):c.802-7A>G single nucleotide variant Nephronophthisis 18 [RCV003017044] Chr12:94376024 [GRCh38]
Chr12:94769800 [GRCh37]
Chr12:12q22		 likely benign
NM_016122.3(CEP83):c.1298C>T (p.Ser433Leu) single nucleotide variant Nephronophthisis 18 [RCV002882148] Chr12:94367839 [GRCh38]
Chr12:94761615 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.933+18T>G single nucleotide variant Nephronophthisis 18 [RCV002882335] Chr12:94375868 [GRCh38]
Chr12:94769644 [GRCh37]
Chr12:12q22		 likely benign
NM_016122.3(CEP83):c.1578-17A>G single nucleotide variant Nephronophthisis 18 [RCV002615939] Chr12:94331846 [GRCh38]
Chr12:94725622 [GRCh37]
Chr12:12q22		 likely benign
NM_016122.3(CEP83):c.288A>T (p.Val96=) single nucleotide variant Nephronophthisis 18 [RCV002755929] Chr12:94411733 [GRCh38]
Chr12:94805509 [GRCh37]
Chr12:12q22		 likely benign
NM_016122.3(CEP83):c.445A>G (p.Asn149Asp) single nucleotide variant Nephronophthisis 18 [RCV003080426] Chr12:94400954 [GRCh38]
Chr12:94794730 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.1449T>A (p.Thr483=) single nucleotide variant Nephronophthisis 18 [RCV002889696] Chr12:94333610 [GRCh38]
Chr12:94727386 [GRCh37]
Chr12:12q22		 likely benign
NM_016122.3(CEP83):c.417+12A>G single nucleotide variant Nephronophthisis 18 [RCV002623160] Chr12:94403158 [GRCh38]
Chr12:94796934 [GRCh37]
Chr12:12q22		 likely benign
NM_016122.3(CEP83):c.1661A>G (p.Asn554Ser) single nucleotide variant Nephronophthisis 18 [RCV002785942] Chr12:94331746 [GRCh38]
Chr12:94725522 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.1577+13C>T single nucleotide variant Nephronophthisis 18 [RCV003038664] Chr12:94333469 [GRCh38]
Chr12:94727245 [GRCh37]
Chr12:12q22		 likely benign
NM_016122.3(CEP83):c.289G>A (p.Glu97Lys) single nucleotide variant Nephronophthisis 18 [RCV002622965] Chr12:94411732 [GRCh38]
Chr12:94805508 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.1394A>C (p.Lys465Thr) single nucleotide variant Nephronophthisis 18 [RCV002637757] Chr12:94335614 [GRCh38]
Chr12:94729390 [GRCh37]
Chr12:12q22		 uncertain significance
NM_005761.3(PLXNC1):c.4330G>A (p.Val1444Met) single nucleotide variant not specified [RCV004172114] Chr12:94301001 [GRCh38]
Chr12:94694777 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.418-8C>T single nucleotide variant Nephronophthisis 18 [RCV002619556] Chr12:94400989 [GRCh38]
Chr12:94794765 [GRCh37]
Chr12:12q22		 likely benign
NM_016122.3(CEP83):c.1414A>C (p.Lys472Gln) single nucleotide variant Nephronophthisis 18 [RCV003000183] Chr12:94335594 [GRCh38]
Chr12:94729370 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.343T>C (p.Leu115=) single nucleotide variant Nephronophthisis 18 [RCV002948774] Chr12:94403244 [GRCh38]
Chr12:94797020 [GRCh37]
Chr12:12q22		 likely benign
NM_016122.3(CEP83):c.578A>G (p.Glu193Gly) single nucleotide variant Nephronophthisis 18 [RCV002695577] Chr12:94379014 [GRCh38]
Chr12:94772790 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.246A>G (p.Glu82=) single nucleotide variant Nephronophthisis 18 [RCV002825105] Chr12:94411775 [GRCh38]
Chr12:94805551 [GRCh37]
Chr12:12q22		 likely benign
NM_005761.3(PLXNC1):c.3668A>G (p.Asn1223Ser) single nucleotide variant not specified [RCV004218594] Chr12:94279542 [GRCh38]
Chr12:94673318 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.1048+17C>T single nucleotide variant Nephronophthisis 18 [RCV002912565] Chr12:94369905 [GRCh38]
Chr12:94763681 [GRCh37]
Chr12:12q22		 likely benign
NM_016122.3(CEP83):c.2028T>C (p.Ser676=) single nucleotide variant Nephronophthisis 18 [RCV003019048] Chr12:94308891 [GRCh38]
Chr12:94702667 [GRCh37]
Chr12:12q22		 likely benign
NM_016122.3(CEP83):c.565G>A (p.Glu189Lys) single nucleotide variant Nephronophthisis 18 [RCV002923043] Chr12:94379027 [GRCh38]
Chr12:94772803 [GRCh37]
Chr12:12q22		 uncertain significance
NM_005761.3(PLXNC1):c.4397C>T (p.Thr1466Ile) single nucleotide variant not specified [RCV004157627] Chr12:94303766 [GRCh38]
Chr12:94697542 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.174-8A>C single nucleotide variant Nephronophthisis 18 [RCV003054644] Chr12:94411855 [GRCh38]
Chr12:94805631 [GRCh37]
Chr12:12q22		 likely benign
NM_016122.3(CEP83):c.903T>G (p.Ala301=) single nucleotide variant Nephronophthisis 18 [RCV003036243] Chr12:94375916 [GRCh38]
Chr12:94769692 [GRCh37]
Chr12:12q22		 likely benign
NM_016122.3(CEP83):c.711A>G (p.Glu237=) single nucleotide variant Nephronophthisis 18 [RCV003079885] Chr12:94378881 [GRCh38]
Chr12:94772657 [GRCh37]
Chr12:12q22		 likely benign
NM_016122.3(CEP83):c.1320C>T (p.Thr440=) single nucleotide variant Nephronophthisis 18 [RCV002824202] Chr12:94367817 [GRCh38]
Chr12:94761593 [GRCh37]
Chr12:12q22		 likely benign
NM_016122.3(CEP83):c.1151AAG[2] (p.Glu386del) microsatellite Nephronophthisis 18 [RCV003079803] Chr12:94368091..94368093 [GRCh38]
Chr12:94761867..94761869 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.1973T>G (p.Met658Arg) single nucleotide variant Nephronophthisis 18 [RCV002979873] Chr12:94309946 [GRCh38]
Chr12:94703722 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.490C>G (p.His164Asp) single nucleotide variant Nephronophthisis 18 [RCV003035406] Chr12:94400909 [GRCh38]
Chr12:94794685 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.414T>C (p.Asp138=) single nucleotide variant Nephronophthisis 18 [RCV002957776] Chr12:94403173 [GRCh38]
Chr12:94796949 [GRCh37]
Chr12:12q22		 likely benign
NM_016122.3(CEP83):c.1193+10T>C single nucleotide variant Nephronophthisis 18 [RCV003043641] Chr12:94368047 [GRCh38]
Chr12:94761823 [GRCh37]
Chr12:12q22		 likely benign
NM_016122.3(CEP83):c.655T>C (p.Tyr219His) single nucleotide variant Nephronophthisis 18 [RCV003082077] Chr12:94378937 [GRCh38]
Chr12:94772713 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.1194-15G>T single nucleotide variant Nephronophthisis 18 [RCV002712024] Chr12:94367958 [GRCh38]
Chr12:94761734 [GRCh37]
Chr12:12q22		 likely benign
NM_016122.3(CEP83):c.1243C>A (p.His415Asn) single nucleotide variant Nephronophthisis 18 [RCV002710503] Chr12:94367894 [GRCh38]
Chr12:94761670 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.1064A>T (p.Asn355Ile) single nucleotide variant Nephronophthisis 18 [RCV003007961] Chr12:94368186 [GRCh38]
Chr12:94761962 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.2015A>T (p.Gln672Leu) single nucleotide variant Inborn genetic diseases [RCV002954505] Chr12:94308904 [GRCh38]
Chr12:94702680 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.1177G>A (p.Val393Ile) single nucleotide variant Nephronophthisis 18 [RCV003043532] Chr12:94368073 [GRCh38]
Chr12:94761849 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.1617G>A (p.Lys539=) single nucleotide variant Nephronophthisis 18 [RCV002625225] Chr12:94331790 [GRCh38]
Chr12:94725566 [GRCh37]
Chr12:12q22		 likely benign
NM_016122.3(CEP83):c.1514G>A (p.Arg505Lys) single nucleotide variant Inborn genetic diseases [RCV004064786]|Nephronophthisis 18 [RCV002786426] Chr12:94333545 [GRCh38]
Chr12:94727321 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.1217C>T (p.Ala406Val) single nucleotide variant Inborn genetic diseases [RCV002742669] Chr12:94367920 [GRCh38]
Chr12:94761696 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.1542A>G (p.Arg514=) single nucleotide variant Nephronophthisis 18 [RCV002700444] Chr12:94333517 [GRCh38]
Chr12:94727293 [GRCh37]
Chr12:12q22		 likely benign
NM_016122.3(CEP83):c.324+8A>G single nucleotide variant Nephronophthisis 18 [RCV003005662] Chr12:94411689 [GRCh38]
Chr12:94805465 [GRCh37]
Chr12:12q22		 likely benign
NM_016122.3(CEP83):c.801+16C>T single nucleotide variant Nephronophthisis 18 [RCV002741606] Chr12:94378775 [GRCh38]
Chr12:94772551 [GRCh37]
Chr12:12q22		 likely benign
NM_016122.3(CEP83):c.895C>A (p.His299Asn) single nucleotide variant Nephronophthisis 18 [RCV002700783] Chr12:94375924 [GRCh38]
Chr12:94769700 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.1707+15T>C single nucleotide variant Nephronophthisis 18 [RCV003007208] Chr12:94331685 [GRCh38]
Chr12:94725461 [GRCh37]
Chr12:12q22		 likely benign
NM_016122.3(CEP83):c.1446G>A (p.Val482=) single nucleotide variant Nephronophthisis 18 [RCV003056236] Chr12:94333613 [GRCh38]
Chr12:94727389 [GRCh37]
Chr12:12q22		 likely benign
NM_016122.3(CEP83):c.1413A>G (p.Leu471=) single nucleotide variant Nephronophthisis 18 [RCV002982166] Chr12:94335595 [GRCh38]
Chr12:94729371 [GRCh37]
Chr12:12q22		 likely benign
NM_016122.3(CEP83):c.1180T>G (p.Leu394Val) single nucleotide variant Inborn genetic diseases [RCV003083647]|Nephronophthisis 18 [RCV003061254] Chr12:94368070 [GRCh38]
Chr12:94761846 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.1049G>A (p.Gly350Glu) single nucleotide variant Nephronophthisis 18 [RCV002700577] Chr12:94368201 [GRCh38]
Chr12:94761977 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.933+7T>G single nucleotide variant Nephronophthisis 18 [RCV002711728] Chr12:94375879 [GRCh38]
Chr12:94769655 [GRCh37]
Chr12:12q22		 likely benign
NM_016122.3(CEP83):c.1263T>C (p.Ser421=) single nucleotide variant Nephronophthisis 18 [RCV002666937] Chr12:94367874 [GRCh38]
Chr12:94761650 [GRCh37]
Chr12:12q22		 likely benign
NM_016122.3(CEP83):c.1160G>A (p.Gly387Asp) single nucleotide variant Nephronophthisis 18 [RCV002890385] Chr12:94368090 [GRCh38]
Chr12:94761866 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.802-13G>T single nucleotide variant Nephronophthisis 18 [RCV002790414] Chr12:94376030 [GRCh38]
Chr12:94769806 [GRCh37]
Chr12:12q22		 likely benign
NM_016122.3(CEP83):c.1930A>G (p.Ile644Val) single nucleotide variant Nephronophthisis 18 [RCV002982511] Chr12:94309989 [GRCh38]
Chr12:94703765 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.836G>A (p.Arg279His) single nucleotide variant Inborn genetic diseases [RCV002697368] Chr12:94375983 [GRCh38]
Chr12:94769759 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.741T>C (p.Asn247=) single nucleotide variant Nephronophthisis 18 [RCV002650635] Chr12:94378851 [GRCh38]
Chr12:94772627 [GRCh37]
Chr12:12q22		 likely benign
NM_016122.3(CEP83):c.173+18A>G single nucleotide variant Nephronophthisis 18 [RCV002966465] Chr12:94412300 [GRCh38]
Chr12:94806076 [GRCh37]
Chr12:12q22		 likely benign
NM_016122.3(CEP83):c.1604G>T (p.Trp535Leu) single nucleotide variant Nephronophthisis 18 [RCV002671688] Chr12:94331803 [GRCh38]
Chr12:94725579 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.485T>A (p.Phe162Tyr) single nucleotide variant Nephronophthisis 18 [RCV002601299] Chr12:94400914 [GRCh38]
Chr12:94794690 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.404G>C (p.Arg135Thr) single nucleotide variant Nephronophthisis 18 [RCV003046165] Chr12:94403183 [GRCh38]
Chr12:94796959 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.1112A>C (p.Glu371Ala) single nucleotide variant Nephronophthisis 18 [RCV003028464] Chr12:94368138 [GRCh38]
Chr12:94761914 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.1036A>G (p.Ser346Gly) single nucleotide variant Nephronophthisis 18 [RCV002833145] Chr12:94369934 [GRCh38]
Chr12:94763710 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.2066A>G (p.Gln689Arg) single nucleotide variant Nephronophthisis 18 [RCV003046312] Chr12:94308853 [GRCh38]
Chr12:94702629 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.428A>C (p.Lys143Thr) single nucleotide variant Nephronophthisis 18 [RCV002895910] Chr12:94400971 [GRCh38]
Chr12:94794747 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.1126T>C (p.Leu376=) single nucleotide variant Nephronophthisis 18 [RCV002899692] Chr12:94368124 [GRCh38]
Chr12:94761900 [GRCh37]
Chr12:12q22		 likely benign
NM_016122.3(CEP83):c.933+19_933+20del deletion Nephronophthisis 18 [RCV003045198] Chr12:94375866..94375867 [GRCh38]
Chr12:94769642..94769643 [GRCh37]
Chr12:12q22		 likely benign
NM_016122.3(CEP83):c.948A>G (p.Lys316=) single nucleotide variant Nephronophthisis 18 [RCV003086576] Chr12:94370022 [GRCh38]
Chr12:94763798 [GRCh37]
Chr12:12q22		 likely benign
NM_016122.3(CEP83):c.216C>T (p.His72=) single nucleotide variant Nephronophthisis 18 [RCV002599486] Chr12:94411805 [GRCh38]
Chr12:94805581 [GRCh37]
Chr12:12q22		 likely benign
NM_016122.3(CEP83):c.508G>A (p.Ala170Thr) single nucleotide variant Nephronophthisis 18 [RCV002937199] Chr12:94400891 [GRCh38]
Chr12:94794667 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.325-7A>G single nucleotide variant Nephronophthisis 18 [RCV002963407] Chr12:94403269 [GRCh38]
Chr12:94797045 [GRCh37]
Chr12:12q22		 likely benign
NM_016122.3(CEP83):c.461A>T (p.Glu154Val) single nucleotide variant Inborn genetic diseases [RCV002960021] Chr12:94400938 [GRCh38]
Chr12:94794714 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.1812-9_1812-5del deletion Nephronophthisis 18 [RCV003046454] Chr12:94310112..94310116 [GRCh38]
Chr12:94703888..94703892 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.549+14T>C single nucleotide variant Nephronophthisis 18 [RCV003027885] Chr12:94400836 [GRCh38]
Chr12:94794612 [GRCh37]
Chr12:12q22		 likely benign
NM_016122.3(CEP83):c.48T>G (p.Phe16Leu) single nucleotide variant Nephronophthisis 18 [RCV002650875] Chr12:94412443 [GRCh38]
Chr12:94806219 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.1578-3C>T single nucleotide variant Nephronophthisis 18 [RCV002857059] Chr12:94331832 [GRCh38]
Chr12:94725608 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.1419+13C>T single nucleotide variant Nephronophthisis 18 [RCV003028462] Chr12:94335576 [GRCh38]
Chr12:94729352 [GRCh37]
Chr12:12q22		 likely benign
NM_016122.3(CEP83):c.1693A>G (p.Ile565Val) single nucleotide variant Nephronophthisis 18 [RCV002895784] Chr12:94331714 [GRCh38]
Chr12:94725490 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.1804T>C (p.Leu602=) single nucleotide variant Nephronophthisis 18 [RCV002603466] Chr12:94312921 [GRCh38]
Chr12:94706697 [GRCh37]
Chr12:12q22		 likely benign
NM_016122.3(CEP83):c.1770A>G (p.Ala590=) single nucleotide variant Nephronophthisis 18 [RCV003068866] Chr12:94312955 [GRCh38]
Chr12:94706731 [GRCh37]
Chr12:12q22		 likely benign
NM_016122.3(CEP83):c.607C>T (p.Leu203Phe) single nucleotide variant Nephronophthisis 18 [RCV002582878] Chr12:94378985 [GRCh38]
Chr12:94772761 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.940G>T (p.Glu314Ter) single nucleotide variant Nephronophthisis 18 [RCV002636025] Chr12:94370030 [GRCh38]
Chr12:94763806 [GRCh37]
Chr12:12q22		 pathogenic
NM_016122.3(CEP83):c.1343+8A>T single nucleotide variant Nephronophthisis 18 [RCV003071602] Chr12:94367786 [GRCh38]
Chr12:94761562 [GRCh37]
Chr12:12q22		 likely benign
NM_016122.3(CEP83):c.1281A>G (p.Glu427=) single nucleotide variant Nephronophthisis 18 [RCV003069716] Chr12:94367856 [GRCh38]
Chr12:94761632 [GRCh37]
Chr12:12q22		 likely benign
NM_016122.3(CEP83):c.1645A>G (p.Arg549Gly) single nucleotide variant Nephronophthisis 18 [RCV003051642] Chr12:94331762 [GRCh38]
Chr12:94725538 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.933+4A>C single nucleotide variant Nephronophthisis 18 [RCV002634142] Chr12:94375882 [GRCh38]
Chr12:94769658 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.205G>A (p.Glu69Lys) single nucleotide variant Nephronophthisis 18 [RCV003072597] Chr12:94411816 [GRCh38]
Chr12:94805592 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.2036G>A (p.Arg679His) single nucleotide variant Nephronophthisis 18 [RCV002612271] Chr12:94308883 [GRCh38]
Chr12:94702659 [GRCh37]
Chr12:12q22		 likely benign
NM_016122.3(CEP83):c.2002-18del deletion Nephronophthisis 18 [RCV003070808] Chr12:94308935 [GRCh38]
Chr12:94702711 [GRCh37]
Chr12:12q22		 likely benign
NM_016122.3(CEP83):c.549+5G>A single nucleotide variant not provided [RCV003222775] Chr12:94400845 [GRCh38]
Chr12:94794621 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.1708-2_1708-1insTC insertion not provided [RCV003222774] Chr12:94313018..94313019 [GRCh38]
Chr12:94706794..94706795 [GRCh37]
Chr12:12q22		 likely pathogenic
NM_016122.3(CEP83):c.1473C>G (p.Asp491Glu) single nucleotide variant Inborn genetic diseases [RCV003198222] Chr12:94333586 [GRCh38]
Chr12:94727362 [GRCh37]
Chr12:12q22		 likely benign
NM_016122.3(CEP83):c.107T>C (p.Ile36Thr) single nucleotide variant Inborn genetic diseases [RCV003204645] Chr12:94412384 [GRCh38]
Chr12:94806160 [GRCh37]
Chr12:12q22		 uncertain significance
NM_005761.3(PLXNC1):c.3634G>A (p.Glu1212Lys) single nucleotide variant not specified [RCV004316324] Chr12:94279508 [GRCh38]
Chr12:94673284 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.1865T>C (p.Ile622Thr) single nucleotide variant Inborn genetic diseases [RCV003383216] Chr12:94310054 [GRCh38]
Chr12:94703830 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.1133G>A (p.Arg378His) single nucleotide variant Inborn genetic diseases [RCV003347606] Chr12:94368117 [GRCh38]
Chr12:94761893 [GRCh37]
Chr12:12q22		 uncertain significance
NM_005761.3(PLXNC1):c.4628G>A (p.Arg1543Gln) single nucleotide variant not specified [RCV004335463] Chr12:94305206 [GRCh38]
Chr12:94698982 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.1812-20del deletion Nephronophthisis 18 [RCV003879297] Chr12:94310127 [GRCh38]
Chr12:94703903 [GRCh37]
Chr12:12q22		 likely benign
NM_016122.3(CEP83):c.325-9A>G single nucleotide variant Nephronophthisis 18 [RCV003852085] Chr12:94403271 [GRCh38]
Chr12:94797047 [GRCh37]
Chr12:12q22		 likely benign
NM_016122.3(CEP83):c.1566A>G (p.Leu522=) single nucleotide variant Nephronophthisis 18 [RCV003584053] Chr12:94333493 [GRCh38]
Chr12:94727269 [GRCh37]
Chr12:12q22		 likely benign
NM_016122.3(CEP83):c.1183C>T (p.Gln395Ter) single nucleotide variant Nephronophthisis 18 [RCV003585613] Chr12:94368067 [GRCh38]
Chr12:94761843 [GRCh37]
Chr12:12q22		 pathogenic
NM_016122.3(CEP83):c.639T>C (p.Leu213=) single nucleotide variant Nephronophthisis 18 [RCV003584231] Chr12:94378953 [GRCh38]
Chr12:94772729 [GRCh37]
Chr12:12q22		 likely benign
NM_016122.3(CEP83):c.786A>T (p.Thr262=) single nucleotide variant Nephronophthisis 18 [RCV003584148] Chr12:94378806 [GRCh38]
Chr12:94772582 [GRCh37]
Chr12:12q22		 likely benign
NM_016122.3(CEP83):c.888T>C (p.Asn296=) single nucleotide variant Nephronophthisis 18 [RCV003584362] Chr12:94375931 [GRCh38]
Chr12:94769707 [GRCh37]
Chr12:12q22		 likely benign
NM_016122.3(CEP83):c.525A>G (p.Glu175=) single nucleotide variant Nephronophthisis 18 [RCV003584190] Chr12:94400874 [GRCh38]
Chr12:94794650 [GRCh37]
Chr12:12q22		 likely benign
NM_016122.3(CEP83):c.1170del (p.Lys390fs) deletion Nephronophthisis 18 [RCV003585524] Chr12:94368080 [GRCh38]
Chr12:94761856 [GRCh37]
Chr12:12q22		 pathogenic
NM_016122.3(CEP83):c.1564C>T (p.Leu522=) single nucleotide variant Nephronophthisis 18 [RCV003584305] Chr12:94333495 [GRCh38]
Chr12:94727271 [GRCh37]
Chr12:12q22		 likely benign
NM_016122.3(CEP83):c.1971C>T (p.Ser657=) single nucleotide variant Nephronophthisis 18 [RCV003585583] Chr12:94309948 [GRCh38]
Chr12:94703724 [GRCh37]
Chr12:12q22		 likely benign
NM_016122.3(CEP83):c.827G>C (p.Arg276Pro) single nucleotide variant Nephronophthisis 18 [RCV003585509] Chr12:94375992 [GRCh38]
Chr12:94769768 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.1419+17G>T single nucleotide variant Nephronophthisis 18 [RCV003584375] Chr12:94335572 [GRCh38]
Chr12:94729348 [GRCh37]
Chr12:12q22		 likely benign
NM_016122.3(CEP83):c.1580del (p.Thr527fs) deletion Nephronophthisis 18 [RCV003584078] Chr12:94331827 [GRCh38]
Chr12:94725603 [GRCh37]
Chr12:12q22		 pathogenic
NM_016122.3(CEP83):c.1729A>T (p.Lys577Ter) single nucleotide variant Nephronophthisis 18 [RCV003584282] Chr12:94312996 [GRCh38]
Chr12:94706772 [GRCh37]
Chr12:12q22		 pathogenic
NM_005761.3(PLXNC1):c.4067C>T (p.Ser1356Leu) single nucleotide variant not specified [RCV004509522] Chr12:94297416 [GRCh38]
Chr12:94691192 [GRCh37]
Chr12:12q22		 uncertain significance
NM_005761.3(PLXNC1):c.3796C>A (p.Gln1266Lys) single nucleotide variant not specified [RCV004509520] Chr12:94282318 [GRCh38]
Chr12:94676094 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.114A>G (p.Glu38=) single nucleotide variant Nephronophthisis 18 [RCV003836335] Chr12:94412377 [GRCh38]
Chr12:94806153 [GRCh37]
Chr12:12q22		 likely benign
NM_016122.3(CEP83):c.651A>G (p.Lys217=) single nucleotide variant Nephronophthisis 18 [RCV003746848] Chr12:94378941 [GRCh38]
Chr12:94772717 [GRCh37]
Chr12:12q22		 likely benign
NM_016122.3(CEP83):c.1588G>T (p.Glu530Ter) single nucleotide variant Ciliopathy [RCV003984302] Chr12:94331819 [GRCh38]
Chr12:94725595 [GRCh37]
Chr12:12q22		 likely pathogenic
NM_016122.3(CEP83):c.2002-15C>G single nucleotide variant Nephronophthisis 18 [RCV003863985] Chr12:94308932 [GRCh38]
Chr12:94702708 [GRCh37]
Chr12:12q22		 likely benign
NM_016122.3(CEP83):c.462A>G (p.Glu154=) single nucleotide variant Nephronophthisis 18 [RCV003746925] Chr12:94400937 [GRCh38]
Chr12:94794713 [GRCh37]
Chr12:12q22		 likely benign
NM_016122.3(CEP83):c.360C>A (p.Ala120=) single nucleotide variant Nephronophthisis 18 [RCV003747086] Chr12:94403227 [GRCh38]
Chr12:94797003 [GRCh37]
Chr12:12q22		 likely benign
NM_016122.3(CEP83):c.2061A>G (p.Thr687=) single nucleotide variant Nephronophthisis 18 [RCV003747416] Chr12:94308858 [GRCh38]
Chr12:94702634 [GRCh37]
Chr12:12q22		 likely benign
NM_016122.3(CEP83):c.802-18A>G single nucleotide variant Nephronophthisis 18 [RCV003746044] Chr12:94376035 [GRCh38]
Chr12:94769811 [GRCh37]
Chr12:12q22		 likely benign
NM_016122.3(CEP83):c.324+20T>C single nucleotide variant Nephronophthisis 18 [RCV003746385] Chr12:94411677 [GRCh38]
Chr12:94805453 [GRCh37]
Chr12:12q22		 likely benign
NM_016122.3(CEP83):c.495G>A (p.Gln165=) single nucleotide variant Nephronophthisis 18 [RCV003746763] Chr12:94400904 [GRCh38]
Chr12:94794680 [GRCh37]
Chr12:12q22		 likely benign
NM_016122.3(CEP83):c.1824T>C (p.Pro608=) single nucleotide variant Nephronophthisis 18 [RCV003746883] Chr12:94310095 [GRCh38]
Chr12:94703871 [GRCh37]
Chr12:12q22		 likely benign
NM_016122.3(CEP83):c.474C>G (p.Leu158=) single nucleotide variant Nephronophthisis 18 [RCV003746776] Chr12:94400925 [GRCh38]
Chr12:94794701 [GRCh37]
Chr12:12q22		 likely benign
NM_016122.3(CEP83):c.2002-12C>G single nucleotide variant Nephronophthisis 18 [RCV003747166] Chr12:94308929 [GRCh38]
Chr12:94702705 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.873T>C (p.Asn291=) single nucleotide variant Nephronophthisis 18 [RCV003857608] Chr12:94375946 [GRCh38]
Chr12:94769722 [GRCh37]
Chr12:12q22		 likely benign
NM_016122.3(CEP83):c.1308A>T (p.Ala436=) single nucleotide variant CEP83-related condition [RCV003902117] Chr12:94367829 [GRCh38]
Chr12:94761605 [GRCh37]
Chr12:12q22		 likely benign
NM_016122.3(CEP83):c.1638C>T (p.Ile546=) single nucleotide variant CEP83-related condition [RCV003904549] Chr12:94331769 [GRCh38]
Chr12:94725545 [GRCh37]
Chr12:12q22		 likely benign
NM_005761.3(PLXNC1):c.3829G>A (p.Val1277Met) single nucleotide variant not specified [RCV004509521] Chr12:94282351 [GRCh38]
Chr12:94676127 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.1296T>C (p.Ala432=) single nucleotide variant CEP83-related condition [RCV003896868] Chr12:94367841 [GRCh38]
Chr12:94761617 [GRCh37]
Chr12:12q22		 likely benign
NM_005761.3(PLXNC1):c.4079C>G (p.Ala1360Gly) single nucleotide variant not specified [RCV004509523] Chr12:94298636 [GRCh38]
Chr12:94692412 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.1448C>T (p.Thr483Ile) single nucleotide variant Inborn genetic diseases [RCV004428427] Chr12:94333611 [GRCh38]
Chr12:94727387 [GRCh37]
Chr12:12q22		 uncertain significance
NM_016122.3(CEP83):c.1409A>G (p.Asp470Gly) single nucleotide variant Inborn genetic diseases [RCV004428426] Chr12:94335599 [GRCh38]
Chr12:94729375 [GRCh37]
Chr12:12q22		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2256
Count of miRNA genes:1049
Interacting mature miRNAs:1262
Transcripts:ENST00000339839, ENST00000397807, ENST00000397809, ENST00000546527, ENST00000546587, ENST00000546783, ENST00000547232, ENST00000547575, ENST00000549352, ENST00000550328, ENST00000551078, ENST00000551250, ENST00000551596, ENST00000552632
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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

Markers in Region
D12S327  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371294,770,286 - 94,770,384UniSTSGRCh37
GRCh371294,770,362 - 94,770,551UniSTSGRCh37
Build 361293,294,493 - 93,294,682RGDNCBI36
Celera1294,441,545 - 94,441,643UniSTS
Celera1294,441,621 - 94,441,810RGD
Cytogenetic Map12q21-q23UniSTS
Cytogenetic Map12q22UniSTS
HuRef1291,837,522 - 91,837,711UniSTS
HuRef1291,837,446 - 91,837,544UniSTS
Marshfield Genetic Map1297.78UniSTS
Marshfield Genetic Map1297.78RGD
Genethon Genetic Map1299.6UniSTS
TNG Radiation Hybrid Map1246046.0UniSTS
TNG Radiation Hybrid Map1246056.0UniSTS
Stanford-G3 RH Map123926.0UniSTS
GeneMap99-GB4 RH Map12360.33UniSTS
Whitehead-YAC Contig Map12 UniSTS
NCBI RH Map12599.9UniSTS
GeneMap99-G3 RH Map123872.0UniSTS
RH48574  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371294,716,283 - 94,716,448UniSTSGRCh37
Build 361293,240,414 - 93,240,579RGDNCBI36
Celera1294,387,542 - 94,387,707RGD
Cytogenetic Map12q22UniSTS
HuRef1291,783,443 - 91,783,608UniSTS
GeneMap99-GB4 RH Map12363.67UniSTS
NCBI RH Map12593.5UniSTS
D12S1881  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371294,817,266 - 94,817,480UniSTSGRCh37
GRCh371256,982,957 - 56,983,171UniSTSGRCh37
Build 361255,269,224 - 55,269,438RGDNCBI36
Celera1256,635,614 - 56,635,828RGD
Celera1294,488,525 - 94,488,739UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map12q13.3UniSTS
HuRef1291,884,425 - 91,884,639UniSTS
HuRef1254,022,310 - 54,022,524UniSTS
GeneMap99-G3 RH Map123868.0UniSTS
RH102893  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371294,702,085 - 94,702,234UniSTSGRCh37
Build 361293,226,216 - 93,226,365RGDNCBI36
Celera1294,373,345 - 94,373,494RGD
Cytogenetic Map12q22UniSTS
HuRef1291,769,246 - 91,769,395UniSTS
GeneMap99-GB4 RH Map12364.87UniSTS
G64527  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371294,822,516 - 94,822,762UniSTSGRCh37
Build 361293,346,647 - 93,346,893RGDNCBI36
Celera1294,493,775 - 94,494,021RGD
Cytogenetic Map12q22UniSTS
HuRef1291,889,677 - 91,889,923UniSTS
G64442  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371294,822,621 - 94,822,762UniSTSGRCh37
Build 361293,346,752 - 93,346,893RGDNCBI36
Celera1294,493,880 - 94,494,021RGD
Cytogenetic Map12q22UniSTS
HuRef1291,889,782 - 91,889,923UniSTS
SHGC-143711  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371294,778,465 - 94,778,569UniSTSGRCh37
Build 361293,302,596 - 93,302,700RGDNCBI36
Celera1294,449,724 - 94,449,828RGD
Cytogenetic Map12q22UniSTS
HuRef1291,845,625 - 91,845,729UniSTS
TNG Radiation Hybrid Map1246095.0UniSTS
SHGC-54537  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371294,702,090 - 94,702,300UniSTSGRCh37
Build 361293,226,221 - 93,226,431RGDNCBI36
Celera1294,373,350 - 94,373,560RGD
Cytogenetic Map12q22UniSTS
HuRef1291,769,251 - 91,769,461UniSTS
TNG Radiation Hybrid Map1246028.0UniSTS
RH46348  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371294,855,593 - 94,855,759UniSTSGRCh37
Build 361293,379,724 - 93,379,890RGDNCBI36
Celera1294,526,852 - 94,527,018RGD
Cytogenetic Map12q22UniSTS
HuRef1291,922,757 - 91,922,923UniSTS
GeneMap99-GB4 RH Map12364.98UniSTS
RH48920  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371294,794,754 - 94,794,918UniSTSGRCh37
Build 361293,318,885 - 93,319,049RGDNCBI36
Celera1294,466,013 - 94,466,177RGD
Cytogenetic Map12q22UniSTS
HuRef1291,861,913 - 91,862,077UniSTS
GeneMap99-GB4 RH Map12364.98UniSTS
NCBI RH Map12593.5UniSTS
B311WC5  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371294,839,008 - 94,839,095UniSTSGRCh37
Build 361293,363,139 - 93,363,226RGDNCBI36
Celera1294,510,267 - 94,510,354RGD
Cytogenetic Map12q22UniSTS
HuRef1291,906,169 - 91,906,258UniSTS
Whitehead-RH Map12462.9UniSTS
Whitehead-YAC Contig Map12 UniSTS
NCBI RH Map12601.1UniSTS
D12S327  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map12q22UniSTS
TNG Radiation Hybrid Map1246046.0UniSTS
TNG Radiation Hybrid Map1246056.0UniSTS
Stanford-G3 RH Map123926.0UniSTS
GeneMap99-GB4 RH Map12360.33UniSTS
NCBI RH Map12599.9UniSTS
GeneMap99-G3 RH Map123872.0UniSTS


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 72 20 120 10 304 11 235 34 136 32 558 205 2 5 80
Low 2365 2466 1603 610 1167 451 4120 2137 3578 386 902 1408 172 1 1199 2708 5 1
Below cutoff 503 3 3 480 3 1 26 19 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_051825 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001042399 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001346457 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001346458 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001346459 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001346460 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001346461 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001346462 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001368037 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001368038 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001368039 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001368040 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001368041 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001368042 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_016122 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_144441 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_160431 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_160432 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011538424 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017019385 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017019386 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017019388 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017019389 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024449002 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024449003 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024449004 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024449005 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024449006 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024449007 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047428922 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047428923 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047428925 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047428926 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047428927 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047428928 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047428929 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047428930 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054372164 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054372165 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054372166 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054372167 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054372168 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054372169 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054372170 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054372171 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054372172 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054372173 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001748731 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001748732 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001748733 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001748734 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001748735 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001748736 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001748737 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001748739 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002957332 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002957333 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007063080 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007063081 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007063082 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007063083 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007063084 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008488601 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008488602 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008488603 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008488604 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008488605 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008488606 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC068779 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC073655 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF155115 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK056316 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK093735 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL705616 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC011009 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC032943 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC053614 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC063398 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC107746 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC125086 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC125087 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU608784 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471054 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068266 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA440413 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB449066 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000339839   ⟹   ENSP00000344655
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1294,308,280 - 94,459,946 (-)Ensembl
RefSeq Acc Id: ENST00000397807   ⟹   ENSP00000380909
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1294,308,286 - 94,412,595 (-)Ensembl
RefSeq Acc Id: ENST00000397809   ⟹   ENSP00000380911
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1294,307,698 - 94,459,867 (-)Ensembl
RefSeq Acc Id: ENST00000546527   ⟹   ENSP00000447449
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1294,412,484 - 94,459,988 (-)Ensembl
RefSeq Acc Id: ENST00000546587
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1294,331,686 - 94,335,848 (-)Ensembl
RefSeq Acc Id: ENST00000546783
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1294,308,827 - 94,313,178 (-)Ensembl
RefSeq Acc Id: ENST00000547232   ⟹   ENSP00000447783
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1294,309,993 - 94,459,678 (-)Ensembl
RefSeq Acc Id: ENST00000547575   ⟹   ENSP00000448913
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1294,368,398 - 94,459,952 (-)Ensembl
RefSeq Acc Id: ENST00000549352
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1294,369,953 - 94,408,104 (-)Ensembl
RefSeq Acc Id: ENST00000550328
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1294,400,904 - 94,402,336 (-)Ensembl
RefSeq Acc Id: ENST00000551078
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1294,402,779 - 94,408,097 (-)Ensembl
RefSeq Acc Id: ENST00000551250
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1294,378,792 - 94,401,121 (-)Ensembl
RefSeq Acc Id: ENST00000551596
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1294,402,978 - 94,412,512 (-)Ensembl
RefSeq Acc Id: ENST00000552632   ⟹   ENSP00000447094
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1294,306,449 - 94,331,798 (-)Ensembl
RefSeq Acc Id: NM_001042399   ⟹   NP_001035858
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381294,307,698 - 94,459,867 (-)NCBI
GRCh371294,702,056 - 94,853,764 (-)RGD
Build 361293,226,187 - 93,377,895 (-)NCBI Archive
Celera1294,373,316 - 94,525,023 (-)RGD
HuRef1291,769,217 - 91,920,928 (-)ENTREZGENE
CHM1_11294,667,059 - 94,818,773 (-)NCBI
T2T-CHM13v2.01294,288,522 - 94,440,677 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001346457   ⟹   NP_001333386
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381294,306,393 - 94,459,867 (-)NCBI
T2T-CHM13v2.01294,287,218 - 94,440,677 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001346458   ⟹   NP_001333387
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381294,307,698 - 94,459,867 (-)NCBI
T2T-CHM13v2.01294,288,522 - 94,440,677 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001346459   ⟹   NP_001333388
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381294,307,698 - 94,459,867 (-)NCBI
T2T-CHM13v2.01294,288,522 - 94,440,677 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001346460   ⟹   NP_001333389
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381294,368,395 - 94,459,867 (-)NCBI
T2T-CHM13v2.01294,349,242 - 94,440,677 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001346461   ⟹   NP_001333390
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381294,368,395 - 94,459,867 (-)NCBI
T2T-CHM13v2.01294,349,242 - 94,440,677 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001346462   ⟹   NP_001333391
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381294,368,395 - 94,459,867 (-)NCBI
T2T-CHM13v2.01294,349,242 - 94,440,677 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001368037   ⟹   NP_001354966
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381294,308,280 - 94,460,454 (-)NCBI
T2T-CHM13v2.01294,289,104 - 94,441,264 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001368038   ⟹   NP_001354967
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381294,308,280 - 94,460,454 (-)NCBI
T2T-CHM13v2.01294,289,104 - 94,441,264 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001368039   ⟹   NP_001354968
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381294,308,280 - 94,460,454 (-)NCBI
T2T-CHM13v2.01294,289,104 - 94,441,264 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001368040   ⟹   NP_001354969
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381294,308,280 - 94,460,454 (-)NCBI
T2T-CHM13v2.01294,289,104 - 94,441,264 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001368041   ⟹   NP_001354970
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381294,308,280 - 94,459,867 (-)NCBI
T2T-CHM13v2.01294,289,104 - 94,440,677 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001368042   ⟹   NP_001354971
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381294,368,395 - 94,460,454 (-)NCBI
T2T-CHM13v2.01294,349,242 - 94,441,264 (-)NCBI
Sequence:
RefSeq Acc Id: NM_016122   ⟹   NP_057206
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381294,307,698 - 94,459,867 (-)NCBI
GRCh371294,702,056 - 94,853,764 (-)RGD
Build 361293,226,187 - 93,377,895 (-)NCBI Archive
Celera1294,373,316 - 94,525,023 (-)RGD
HuRef1291,769,217 - 91,920,928 (-)ENTREZGENE
CHM1_11294,667,059 - 94,818,773 (-)NCBI
T2T-CHM13v2.01294,288,522 - 94,440,677 (-)NCBI
Sequence:
RefSeq Acc Id: NR_144441
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381294,368,395 - 94,459,867 (-)NCBI
T2T-CHM13v2.01294,349,242 - 94,440,677 (-)NCBI
Sequence:
RefSeq Acc Id: NR_160431
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381294,308,280 - 94,459,867 (-)NCBI
T2T-CHM13v2.01294,289,104 - 94,440,677 (-)NCBI
Sequence:
RefSeq Acc Id: NR_160432
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381294,308,280 - 94,459,867 (-)NCBI
T2T-CHM13v2.01294,289,104 - 94,440,677 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011538424   ⟹   XP_011536726
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381294,307,698 - 94,459,867 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017019385   ⟹   XP_016874874
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381294,306,393 - 94,459,867 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017019386   ⟹   XP_016874875
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381294,282,181 - 94,459,867 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017019389   ⟹   XP_016874878
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381294,307,698 - 94,459,867 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024449005   ⟹   XP_024304773
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381294,307,698 - 94,459,867 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024449007   ⟹   XP_024304775
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381294,307,698 - 94,459,867 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047428922   ⟹   XP_047284878
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381294,282,181 - 94,459,867 (-)NCBI
RefSeq Acc Id: XM_047428923   ⟹   XP_047284879
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381294,265,662 - 94,459,867 (-)NCBI
RefSeq Acc Id: XM_047428925   ⟹   XP_047284881
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381294,307,698 - 94,459,867 (-)NCBI
RefSeq Acc Id: XM_047428926   ⟹   XP_047284882
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381294,306,393 - 94,459,867 (-)NCBI
RefSeq Acc Id: XM_047428927   ⟹   XP_047284883
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381294,307,698 - 94,402,705 (-)NCBI
RefSeq Acc Id: XM_047428928   ⟹   XP_047284884
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381294,331,700 - 94,459,867 (-)NCBI
RefSeq Acc Id: XM_047428929   ⟹   XP_047284885
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381294,366,770 - 94,459,867 (-)NCBI
RefSeq Acc Id: XM_047428930   ⟹   XP_047284886
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381294,366,770 - 94,459,867 (-)NCBI
RefSeq Acc Id: XM_054372164   ⟹   XP_054228139
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01294,288,522 - 94,440,677 (-)NCBI
RefSeq Acc Id: XM_054372165   ⟹   XP_054228140
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01294,263,220 - 94,440,677 (-)NCBI
RefSeq Acc Id: XM_054372166   ⟹   XP_054228141
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01294,249,742 - 94,440,677 (-)NCBI
RefSeq Acc Id: XM_054372167   ⟹   XP_054228142
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01294,263,220 - 94,440,677 (-)NCBI
RefSeq Acc Id: XM_054372168   ⟹   XP_054228143
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01294,288,522 - 94,440,677 (-)NCBI
RefSeq Acc Id: XM_054372169   ⟹   XP_054228144
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01294,288,522 - 94,440,677 (-)NCBI
RefSeq Acc Id: XM_054372170   ⟹   XP_054228145
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01294,288,522 - 94,440,677 (-)NCBI
RefSeq Acc Id: XM_054372171   ⟹   XP_054228146
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01294,288,522 - 94,383,535 (-)NCBI
RefSeq Acc Id: XM_054372172   ⟹   XP_054228147
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01294,312,553 - 94,440,677 (-)NCBI
RefSeq Acc Id: XM_054372173   ⟹   XP_054228148
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01294,288,522 - 94,440,677 (-)NCBI
RefSeq Acc Id: XR_007063080
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381294,277,757 - 94,459,867 (-)NCBI
RefSeq Acc Id: XR_007063081
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381294,277,757 - 94,459,867 (-)NCBI
RefSeq Acc Id: XR_007063082
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381294,277,757 - 94,459,867 (-)NCBI
RefSeq Acc Id: XR_007063083
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381294,277,757 - 94,459,867 (-)NCBI
RefSeq Acc Id: XR_007063084
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381294,310,023 - 94,459,867 (-)NCBI
RefSeq Acc Id: XR_008488601
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01294,258,581 - 94,440,677 (-)NCBI
RefSeq Acc Id: XR_008488602
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01294,258,581 - 94,440,677 (-)NCBI
RefSeq Acc Id: XR_008488603
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01294,258,581 - 94,440,677 (-)NCBI
RefSeq Acc Id: XR_008488604
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01294,290,847 - 94,440,677 (-)NCBI
RefSeq Acc Id: XR_008488605
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01294,316,484 - 94,440,677 (-)NCBI
RefSeq Acc Id: XR_008488606
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01294,316,484 - 94,440,677 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001035858 (Get FASTA)   NCBI Sequence Viewer  
  NP_001333386 (Get FASTA)   NCBI Sequence Viewer  
  NP_001333387 (Get FASTA)   NCBI Sequence Viewer  
  NP_001333388 (Get FASTA)   NCBI Sequence Viewer  
  NP_001333389 (Get FASTA)   NCBI Sequence Viewer  
  NP_001333390 (Get FASTA)   NCBI Sequence Viewer  
  NP_001333391 (Get FASTA)   NCBI Sequence Viewer  
  NP_001354966 (Get FASTA)   NCBI Sequence Viewer  
  NP_001354967 (Get FASTA)   NCBI Sequence Viewer  
  NP_001354968 (Get FASTA)   NCBI Sequence Viewer  
  NP_001354969 (Get FASTA)   NCBI Sequence Viewer  
  NP_001354970 (Get FASTA)   NCBI Sequence Viewer  
  NP_001354971 (Get FASTA)   NCBI Sequence Viewer  
  NP_057206 (Get FASTA)   NCBI Sequence Viewer  
  XP_011536726 (Get FASTA)   NCBI Sequence Viewer  
  XP_016874874 (Get FASTA)   NCBI Sequence Viewer  
  XP_016874875 (Get FASTA)   NCBI Sequence Viewer  
  XP_016874878 (Get FASTA)   NCBI Sequence Viewer  
  XP_024304773 (Get FASTA)   NCBI Sequence Viewer  
  XP_024304775 (Get FASTA)   NCBI Sequence Viewer  
  XP_047284878 (Get FASTA)   NCBI Sequence Viewer  
  XP_047284879 (Get FASTA)   NCBI Sequence Viewer  
  XP_047284881 (Get FASTA)   NCBI Sequence Viewer  
  XP_047284882 (Get FASTA)   NCBI Sequence Viewer  
  XP_047284883 (Get FASTA)   NCBI Sequence Viewer  
  XP_047284884 (Get FASTA)   NCBI Sequence Viewer  
  XP_047284885 (Get FASTA)   NCBI Sequence Viewer  
  XP_047284886 (Get FASTA)   NCBI Sequence Viewer  
  XP_054228139 (Get FASTA)   NCBI Sequence Viewer  
  XP_054228140 (Get FASTA)   NCBI Sequence Viewer  
  XP_054228141 (Get FASTA)   NCBI Sequence Viewer  
  XP_054228142 (Get FASTA)   NCBI Sequence Viewer  
  XP_054228143 (Get FASTA)   NCBI Sequence Viewer  
  XP_054228144 (Get FASTA)   NCBI Sequence Viewer  
  XP_054228145 (Get FASTA)   NCBI Sequence Viewer  
  XP_054228146 (Get FASTA)   NCBI Sequence Viewer  
  XP_054228147 (Get FASTA)   NCBI Sequence Viewer  
  XP_054228148 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAD42881 (Get FASTA)   NCBI Sequence Viewer  
  AAI07747 (Get FASTA)   NCBI Sequence Viewer  
  AAI25087 (Get FASTA)   NCBI Sequence Viewer  
  AAI25088 (Get FASTA)   NCBI Sequence Viewer  
  EAW97501 (Get FASTA)   NCBI Sequence Viewer  
  EAW97502 (Get FASTA)   NCBI Sequence Viewer  
  EAW97503 (Get FASTA)   NCBI Sequence Viewer  
  EAW97504 (Get FASTA)   NCBI Sequence Viewer  
  EAW97505 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000344655
  ENSP00000344655.5
  ENSP00000380911
  ENSP00000380911.4
  ENSP00000447094.1
  ENSP00000447783
  ENSP00000447783.1
  ENSP00000448913
  ENSP00000448913.1
GenBank Protein Q9Y592 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_001035858   ⟸   NM_001042399
- Peptide Label: isoform a
- UniProtKB: Q9Y592 (UniProtKB/Swiss-Prot),   A4FVB1 (UniProtKB/Swiss-Prot),   Q08AP1 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_057206   ⟸   NM_016122
- Peptide Label: isoform a
- UniProtKB: A4FVB1 (UniProtKB/Swiss-Prot),   Q08AP1 (UniProtKB/Swiss-Prot),   Q9Y592 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011536726   ⟸   XM_011538424
- Peptide Label: isoform X1
- UniProtKB: Q9Y592 (UniProtKB/Swiss-Prot),   A4FVB1 (UniProtKB/Swiss-Prot),   Q08AP1 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016874875   ⟸   XM_017019386
- Peptide Label: isoform X1
- UniProtKB: Q9Y592 (UniProtKB/Swiss-Prot),   A4FVB1 (UniProtKB/Swiss-Prot),   Q08AP1 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016874874   ⟸   XM_017019385
- Peptide Label: isoform X1
- UniProtKB: Q9Y592 (UniProtKB/Swiss-Prot),   A4FVB1 (UniProtKB/Swiss-Prot),   Q08AP1 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016874878   ⟸   XM_017019389
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: NP_001333386   ⟸   NM_001346457
- Peptide Label: isoform a
- UniProtKB: Q9Y592 (UniProtKB/Swiss-Prot),   A4FVB1 (UniProtKB/Swiss-Prot),   Q08AP1 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_024304775   ⟸   XM_024449007
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_024304773   ⟸   XM_024449005
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: NP_001333388   ⟸   NM_001346459
- Peptide Label: isoform b
- Sequence:
RefSeq Acc Id: NP_001333387   ⟸   NM_001346458
- Peptide Label: isoform b
- Sequence:
RefSeq Acc Id: NP_001333391   ⟸   NM_001346462
- Peptide Label: isoform d
- UniProtKB: Q3B787 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001333390   ⟸   NM_001346461
- Peptide Label: isoform c
- UniProtKB: F8VYN8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001333389   ⟸   NM_001346460
- Peptide Label: isoform c
- UniProtKB: F8VYN8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001354969   ⟸   NM_001368040
- Peptide Label: isoform b
RefSeq Acc Id: NP_001354967   ⟸   NM_001368038
- Peptide Label: isoform a
- UniProtKB: Q9Y592 (UniProtKB/Swiss-Prot),   A4FVB1 (UniProtKB/Swiss-Prot),   Q08AP1 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: NP_001354968   ⟸   NM_001368039
- Peptide Label: isoform b
RefSeq Acc Id: NP_001354966   ⟸   NM_001368037
- Peptide Label: isoform a
- UniProtKB: Q9Y592 (UniProtKB/Swiss-Prot),   A4FVB1 (UniProtKB/Swiss-Prot),   Q08AP1 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: NP_001354970   ⟸   NM_001368041
- Peptide Label: isoform e
RefSeq Acc Id: NP_001354971   ⟸   NM_001368042
- Peptide Label: isoform f
RefSeq Acc Id: ENSP00000447449   ⟸   ENST00000546527
RefSeq Acc Id: ENSP00000448913   ⟸   ENST00000547575
RefSeq Acc Id: ENSP00000447783   ⟸   ENST00000547232
RefSeq Acc Id: ENSP00000344655   ⟸   ENST00000339839
RefSeq Acc Id: ENSP00000447094   ⟸   ENST00000552632
RefSeq Acc Id: ENSP00000380911   ⟸   ENST00000397809
RefSeq Acc Id: ENSP00000380909   ⟸   ENST00000397807
RefSeq Acc Id: XP_047284879   ⟸   XM_047428923
- Peptide Label: isoform X1
- UniProtKB: Q9Y592 (UniProtKB/Swiss-Prot),   A4FVB1 (UniProtKB/Swiss-Prot),   Q08AP1 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047284878   ⟸   XM_047428922
- Peptide Label: isoform X1
- UniProtKB: Q9Y592 (UniProtKB/Swiss-Prot),   A4FVB1 (UniProtKB/Swiss-Prot),   Q08AP1 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047284882   ⟸   XM_047428926
- Peptide Label: isoform X3
RefSeq Acc Id: XP_047284881   ⟸   XM_047428925
- Peptide Label: isoform X3
RefSeq Acc Id: XP_047284883   ⟸   XM_047428927
- Peptide Label: isoform X3
RefSeq Acc Id: XP_047284884   ⟸   XM_047428928
- Peptide Label: isoform X4
RefSeq Acc Id: XP_047284885   ⟸   XM_047428929
- Peptide Label: isoform X5
RefSeq Acc Id: XP_047284886   ⟸   XM_047428930
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054228141   ⟸   XM_054372166
- Peptide Label: isoform X1
- UniProtKB: Q9Y592 (UniProtKB/Swiss-Prot),   A4FVB1 (UniProtKB/Swiss-Prot),   Q08AP1 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054228140   ⟸   XM_054372165
- Peptide Label: isoform X1
- UniProtKB: Q9Y592 (UniProtKB/Swiss-Prot),   A4FVB1 (UniProtKB/Swiss-Prot),   Q08AP1 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054228142   ⟸   XM_054372167
- Peptide Label: isoform X1
- UniProtKB: Q9Y592 (UniProtKB/Swiss-Prot),   A4FVB1 (UniProtKB/Swiss-Prot),   Q08AP1 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054228143   ⟸   XM_054372168
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054228148   ⟸   XM_054372173
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054228145   ⟸   XM_054372170
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054228144   ⟸   XM_054372169
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054228139   ⟸   XM_054372164
- Peptide Label: isoform X1
- UniProtKB: Q9Y592 (UniProtKB/Swiss-Prot),   A4FVB1 (UniProtKB/Swiss-Prot),   Q08AP1 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054228146   ⟸   XM_054372171
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054228147   ⟸   XM_054372172
- Peptide Label: isoform X4

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9Y592-F1-model_v2 AlphaFold Q9Y592 1-701 view protein structure

Promoters
RGD ID:6789795
Promoter ID:HG_KWN:16341
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:ENST00000397807,   NM_001042399,   NM_016122,   NR_027035,   UC001TDF.2,   UC009ZSW.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361293,377,656 - 93,378,827 (-)MPROMDB
RGD ID:7225027
Promoter ID:EPDNEW_H18259
Type:initiation region
Name:CCDC41_1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H18261  EPDNEW_H18260  EPDNEW_H18262  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381294,424,994 - 94,425,054EPDNEW
RGD ID:7225031
Promoter ID:EPDNEW_H18260
Type:initiation region
Name:CCDC41_2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H18259  EPDNEW_H18261  EPDNEW_H18262  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381294,459,867 - 94,459,927EPDNEW
RGD ID:7225029
Promoter ID:EPDNEW_H18261
Type:initiation region
Name:CCDC41_3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H18259  EPDNEW_H18260  EPDNEW_H18262  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381294,459,981 - 94,460,041EPDNEW
RGD ID:7225033
Promoter ID:EPDNEW_H18262
Type:initiation region
Name:CCDC41_4
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H18259  EPDNEW_H18261  EPDNEW_H18260  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381294,460,454 - 94,460,514EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:17966 AgrOrtholog
COSMIC CEP83 COSMIC
Ensembl Genes ENSG00000173588 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000339839 ENTREZGENE
  ENST00000339839.9 UniProtKB/Swiss-Prot
  ENST00000397809 ENTREZGENE
  ENST00000397809.10 UniProtKB/Swiss-Prot
  ENST00000547232 ENTREZGENE
  ENST00000547232.5 UniProtKB/TrEMBL
  ENST00000547575 ENTREZGENE
  ENST00000547575.5 UniProtKB/TrEMBL
  ENST00000552632.5 UniProtKB/TrEMBL
GTEx ENSG00000173588 GTEx
HGNC ID HGNC:17966 ENTREZGENE
Human Proteome Map CEP83 Human Proteome Map
KEGG Report hsa:51134 UniProtKB/Swiss-Prot
NCBI Gene 51134 ENTREZGENE
OMIM 615847 OMIM
PANTHER NY-REN-58 ANTIGEN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR23170:SF2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA142672158 PharmGKB
UniProt A0A338VFC5_HUMAN UniProtKB/TrEMBL
  A4FVB1 ENTREZGENE
  CEP83_HUMAN UniProtKB/Swiss-Prot
  F8VYN8 ENTREZGENE, UniProtKB/TrEMBL
  H0YHH5_HUMAN UniProtKB/TrEMBL
  Q08AP1 ENTREZGENE
  Q3B787 ENTREZGENE, UniProtKB/TrEMBL
  Q9Y592 ENTREZGENE
UniProt Secondary A4FVB1 UniProtKB/Swiss-Prot
  Q08AP1 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-04-04 CEP83  centrosomal protein 83    centrosomal protein 83kDa  Symbol and/or name change 5135510 APPROVED
2014-03-12 CEP83  centrosomal protein 83kDa  CCDC41  coiled-coil domain containing 41  Symbol and/or name change 5135510 APPROVED