NEK8 (NIMA related kinase 8) - Rat Genome Database

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Gene: NEK8 (NIMA related kinase 8) Homo sapiens
Analyze
Symbol: NEK8
Name: NIMA related kinase 8
RGD ID: 1315774
HGNC Page HGNC:13387
Description: Predicted to enable several functions, including ATP binding activity; protein serine kinase activity; and protein serine/threonine kinase activity. Involved in animal organ morphogenesis and regulation of hippo signaling. Located in cilium. Implicated in nephronophthisis 9 and renal-hepatic-pancreatic dysplasia.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: JCK; MGC138445; NEK12A; nephrocystin 9; never in mitosis A-related kinase 8; NIMA (never in mitosis gene a)- related kinase 8; NIMA-family kinase NEK8; NIMA-related kinase 12a; NIMA-related kinase 8; nima-related protein kinase 12a; nimA-related protein kinase 8; NPHP9; PKD8; RHPD2; serine/threonine-protein kinase Nek8; serine/thrionine-protein kinase NEK8
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381728,728,788 - 28,743,455 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1728,725,897 - 28,743,455 (+)EnsemblGRCh38hg38GRCh38
GRCh371727,055,806 - 27,070,473 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361724,079,959 - 24,093,911 (+)NCBINCBI36Build 36hg18NCBI36
Build 341724,079,958 - 24,093,911NCBI
Celera1723,914,995 - 23,928,979 (+)NCBICelera
Cytogenetic Map17q11.2NCBI
HuRef1723,264,730 - 23,278,592 (+)NCBIHuRef
CHM1_11727,118,302 - 27,132,262 (+)NCBICHM1_1
T2T-CHM13v2.01729,671,595 - 29,686,240 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
centrosome  (IEA)
ciliary base  (IEA)
ciliary inversin compartment  (IEA)
cilium  (IBA,IDA,IEA,IMP,ISS)
cytoplasm  (IEA)
cytoskeleton  (IEA)

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. A novel mutation causing nephronophthisis in the Lewis polycystic kidney rat localises to a conserved RCC1 domain in Nek8. McCooke JK, etal., BMC Genomics. 2012 Aug 16;13:393. doi: 10.1186/1471-2164-13-393.
3. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
4. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
6. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:11864968   PMID:12477932   PMID:15019993   PMID:15489334   PMID:15761153   PMID:15872312   PMID:17474147   PMID:18199800   PMID:19066617   PMID:20301743   PMID:21068128   PMID:21873635  
PMID:22106379   PMID:22939624   PMID:23026745   PMID:23314748   PMID:23418306   PMID:23793029   PMID:23973373   PMID:25036637   PMID:25416956   PMID:25451921   PMID:26188091   PMID:26638075  
PMID:26697755   PMID:26967905   PMID:27173435   PMID:27336129   PMID:27892797   PMID:28065597   PMID:30333866   PMID:31633649   PMID:32296183   PMID:32707033   PMID:32814053   PMID:33961781  
PMID:35748872   PMID:36724073   PMID:37596667   PMID:37598857  


Genomics

Comparative Map Data
NEK8
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381728,728,788 - 28,743,455 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1728,725,897 - 28,743,455 (+)EnsemblGRCh38hg38GRCh38
GRCh371727,055,806 - 27,070,473 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361724,079,959 - 24,093,911 (+)NCBINCBI36Build 36hg18NCBI36
Build 341724,079,958 - 24,093,911NCBI
Celera1723,914,995 - 23,928,979 (+)NCBICelera
Cytogenetic Map17q11.2NCBI
HuRef1723,264,730 - 23,278,592 (+)NCBIHuRef
CHM1_11727,118,302 - 27,132,262 (+)NCBICHM1_1
T2T-CHM13v2.01729,671,595 - 29,686,240 (+)NCBIT2T-CHM13v2.0
Nek8
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391178,056,932 - 78,067,501 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1178,056,932 - 78,067,501 (-)EnsemblGRCm39 Ensembl
GRCm381178,166,106 - 78,176,695 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1178,166,106 - 78,176,675 (-)EnsemblGRCm38mm10GRCm38
MGSCv371177,979,608 - 77,990,168 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361177,982,715 - 77,992,861 (-)NCBIMGSCv36mm8
Celera1185,665,979 - 85,676,539 (-)NCBICelera
Cytogenetic Map11B5NCBI
cM Map1146.74NCBI
Nek8
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81063,558,940 - 63,570,954 (-)NCBIGRCr8
mRatBN7.21063,060,868 - 63,073,546 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1063,061,253 - 63,072,416 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1067,693,525 - 67,704,703 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01067,198,879 - 67,210,057 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01062,669,900 - 62,681,011 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01065,404,489 - 65,439,059 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1065,425,771 - 65,437,143 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01066,196,993 - 66,230,588 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41064,458,886 - 64,470,044 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11064,472,568 - 64,483,018 (+)NCBI
Celera1062,038,910 - 62,050,078 (-)NCBICelera
Cytogenetic Map10q25NCBI
Nek8
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554814,417,773 - 4,427,885 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554814,417,773 - 4,427,885 (-)NCBIChiLan1.0ChiLan1.0
NEK8
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21935,716,348 - 35,732,975 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11737,596,329 - 37,613,488 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01728,033,001 - 28,048,157 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11728,539,621 - 28,553,282 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1728,539,621 - 28,550,860 (-)Ensemblpanpan1.1panPan2
NEK8
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1942,923,208 - 42,933,083 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl942,923,288 - 42,932,352 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha942,078,973 - 42,088,848 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0943,741,379 - 43,751,253 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl943,741,425 - 43,751,220 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1942,524,530 - 42,534,168 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0942,816,751 - 42,826,387 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0942,895,059 - 42,904,934 (+)NCBIUU_Cfam_GSD_1.0
Nek8
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440560242,060,781 - 42,074,138 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365384,938,708 - 4,952,194 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365384,938,739 - 4,952,083 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
NEK8
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1244,965,116 - 44,975,083 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11244,963,095 - 44,975,092 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21246,948,058 - 46,960,030 (+)NCBISscrofa10.2Sscrofa10.2susScr3
NEK8
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11622,495,745 - 22,506,782 (+)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_0236660757,613,680 - 7,627,632 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Nek8
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247861,303,308 - 1,314,188 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247861,303,283 - 1,314,188 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in NEK8
296 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_178170.3(NEK8):c.2001G>A (p.Thr667=) single nucleotide variant Nephronophthisis 9 [RCV000527873] Chr17:28741522 [GRCh38]
Chr17:27068540 [GRCh37]
Chr17:17q11.2		 benign
NM_178170.3(NEK8):c.1273C>T (p.His425Tyr) single nucleotide variant Nephronophthisis 9 [RCV000001553] Chr17:28738721 [GRCh38]
Chr17:27065739 [GRCh37]
Chr17:17q11.2		 pathogenic
NM_178170.3(NEK8):c.133C>T (p.Arg45Trp) single nucleotide variant Familial cystic renal disease [RCV004788151]|Nephronophthisis 9 [RCV000816449]|not provided [RCV000728244] Chr17:28734068 [GRCh38]
Chr17:27061086 [GRCh37]
Chr17:17q11.2		 pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_178170.3(NEK8):c.583G>A (p.Glu195Lys) single nucleotide variant NEK8-related disorder [RCV004754468]|Nephronophthisis 9 [RCV000548256]|Nephronophthisis 9 [RCV002483469]|not provided [RCV002221555]|not specified [RCV003387880] Chr17:28735336 [GRCh38]
Chr17:27062354 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_178170.3(NEK8):c.1043C>T (p.Thr348Met) single nucleotide variant Nephronophthisis 9 [RCV002529116]|Renal-hepatic-pancreatic dysplasia 2 [RCV000584523] Chr17:28737972 [GRCh38]
Chr17:27064990 [GRCh37]
Chr17:17q11.2		 pathogenic|uncertain significance
NM_178170.3(NEK8):c.1795C>T (p.Arg599Ter) single nucleotide variant NEK8-related disorder [RCV004754289]|Nephronophthisis 9 [RCV002483083]|Premature ovarian insufficiency [RCV000766162]|Renal-hepatic-pancreatic dysplasia 2 [RCV000055629]|not provided [RCV001699113] Chr17:28741140 [GRCh38]
Chr17:27068158 [GRCh37]
Chr17:17q11.2		 pathogenic|likely pathogenic|uncertain significance
NM_178170.3(NEK8):c.1401G>A (p.Trp467Ter) single nucleotide variant Renal-hepatic-pancreatic dysplasia 2 [RCV000581604]|not provided [RCV000171252] Chr17:28739185 [GRCh38]
Chr17:27066203 [GRCh37]
Chr17:17q11.2		 pathogenic|likely pathogenic
NM_178170.3(NEK8):c.2052G>A (p.Ser684=) single nucleotide variant Nephronophthisis 9 [RCV000205980]|not provided [RCV001682885]|not specified [RCV000174959] Chr17:28741960 [GRCh38]
Chr17:27068978 [GRCh37]
Chr17:17q11.2		 benign|likely benign|uncertain significance
GRCh38/hg38 17q11.2(chr17:28283125-28904397)x3 copy number gain See cases [RCV000136494] Chr17:28283125..28904397 [GRCh38]
Chr17:26610151..27231415 [GRCh37]
Chr17:23634278..24255541 [NCBI36]
Chr17:17q11.2		 benign
NM_178170.3(NEK8):c.47+1del deletion not specified [RCV000169669] Chr17:28728859 [GRCh38]
Chr17:27055877 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_178170.3(NEK8):c.1055G>T (p.Arg352Leu) single nucleotide variant Nephronophthisis 9 [RCV000765341]|Nephronophthisis 9 [RCV000792333]|not provided [RCV000180016] Chr17:28737984 [GRCh38]
Chr17:28737984..28737985 [GRCh38]
Chr17:27065002 [GRCh37]
Chr17:27065002..27065003 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_178170.3(NEK8):c.2011G>A (p.Val671Met) single nucleotide variant Nephronophthisis 9 [RCV000203849] Chr17:28741532 [GRCh38]
Chr17:27068550 [GRCh37]
Chr17:17q11.2		 uncertain significance
GRCh37/hg19 17q11.1-11.2(chr17:25403446-31685464)x3 copy number gain not provided [RCV000762776] Chr17:25403446..31685464 [GRCh37]
Chr17:17q11.1-11.2		 likely pathogenic
NM_178170.3(NEK8):c.1732+8_1732+10del microsatellite Kidney disorder [RCV002294092]|Nephronophthisis 9 [RCV000230177]|Nephronophthisis 9 [RCV002500825]|Nephronophthisis [RCV000260096] Chr17:28740988..28740990 [GRCh38]
Chr17:27068006..27068008 [GRCh37]
Chr17:17q11.2		 likely pathogenic|benign|likely benign
NM_178170.3(NEK8):c.419G>T (p.Arg140Leu) single nucleotide variant Inborn genetic diseases [RCV002519806]|Nephronophthisis 9 [RCV000233038]|Nephronophthisis 9 [RCV002494671]|not provided [RCV000318228] Chr17:28734937 [GRCh38]
Chr17:27061955 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_178170.3(NEK8):c.1170T>C (p.Gly390=) single nucleotide variant Nephronophthisis 9 [RCV000860396]|Renal-hepatic-pancreatic dysplasia 2 [RCV001782748]|not provided [RCV001636834]|not specified [RCV000251686] Chr17:28738193 [GRCh38]
Chr17:27065211 [GRCh37]
Chr17:17q11.2		 benign
NM_178170.3(NEK8):c.1770C>T (p.His590=) single nucleotide variant Nephronophthisis 9 [RCV000863313]|not specified [RCV000244496] Chr17:28741115 [GRCh38]
Chr17:27068133 [GRCh37]
Chr17:17q11.2		 benign|likely benign
NM_178170.3(NEK8):c.2048G>A (p.Arg683Gln) single nucleotide variant NEK8-related disorder [RCV003409507]|Nephronophthisis 9 [RCV000265888]|Nephronophthisis 9 [RCV002502248] Chr17:28741569 [GRCh38]
Chr17:27068587 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_178170.3(NEK8):c.*344C>T single nucleotide variant Nephronophthisis 9 [RCV000290240] Chr17:28742331 [GRCh38]
Chr17:27069349 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_178170.3(NEK8):c.1179C>G (p.Ile393Met) single nucleotide variant Inborn genetic diseases [RCV004639217]|Nephronophthisis 9 [RCV000277028]|Nephronophthisis 9 [RCV002504094]|not provided [RCV003441841] Chr17:28738202 [GRCh38]
Chr17:27065220 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_178170.3(NEK8):c.*430C>A single nucleotide variant Nephronophthisis 9 [RCV000297281]|not provided [RCV004710809] Chr17:28742417 [GRCh38]
Chr17:27069435 [GRCh37]
Chr17:17q11.2		 benign|likely benign
NM_178170.3(NEK8):c.582C>T (p.Tyr194=) single nucleotide variant Nephronophthisis 9 [RCV000342342] Chr17:28735335 [GRCh38]
Chr17:27062353 [GRCh37]
Chr17:17q11.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_178170.3(NEK8):c.*328C>T single nucleotide variant Nephronophthisis 9 [RCV000345458] Chr17:28742315 [GRCh38]
Chr17:27069333 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_178170.3(NEK8):c.881G>T (p.Arg294Leu) single nucleotide variant Inborn genetic diseases [RCV002522926]|Nephronophthisis 9 [RCV000347164] Chr17:28737728 [GRCh38]
Chr17:27064746 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_178170.3(NEK8):c.1897G>A (p.Glu633Lys) single nucleotide variant NEK8-related disorder [RCV003940269]|Nephronophthisis 9 [RCV000319909]|not provided [RCV001660663] Chr17:28741418 [GRCh38]
Chr17:27068436 [GRCh37]
Chr17:17q11.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_178170.3(NEK8):c.1938A>C (p.Gly646=) single nucleotide variant Nephronophthisis 9 [RCV000551764] Chr17:28741459 [GRCh38]
Chr17:27068477 [GRCh37]
Chr17:17q11.2		 benign|likely benign|uncertain significance
NM_178170.3(NEK8):c.1000G>A (p.Val334Met) single nucleotide variant Nephronophthisis 9 [RCV002502094]|not provided [RCV000314961] Chr17:28737929 [GRCh38]
Chr17:27064947 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_178170.3(NEK8):c.880C>T (p.Arg294Cys) single nucleotide variant Nephronophthisis 9 [RCV000307298]|Nephronophthisis 9 [RCV002480148] Chr17:28737727 [GRCh38]
Chr17:27064745 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_178170.3(NEK8):c.*420C>T single nucleotide variant Nephronophthisis 9 [RCV000351122]|not provided [RCV004694310] Chr17:28742407 [GRCh38]
Chr17:27069425 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_178170.3(NEK8):c.1093G>A (p.Gly365Arg) single nucleotide variant Nephronophthisis 9 [RCV001063364] Chr17:28738116 [GRCh38]
Chr17:27065134 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_178170.3(NEK8):c.1641C>T (p.Ala547=) single nucleotide variant Nephronophthisis 9 [RCV000648816]|not provided [RCV004709584] Chr17:28740894 [GRCh38]
Chr17:27067912 [GRCh37]
Chr17:17q11.2		 benign|uncertain significance
NM_178170.3(NEK8):c.*156G>A single nucleotide variant Nephronophthisis 9 [RCV000380198] Chr17:28742143 [GRCh38]
Chr17:27069161 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_178170.3(NEK8):c.1148G>A (p.Arg383His) single nucleotide variant Nephronophthisis 9 [RCV000312188] Chr17:28738171 [GRCh38]
Chr17:27065189 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_178170.3(NEK8):c.*480G>A single nucleotide variant Nephronophthisis 9 [RCV000356843] Chr17:28742467 [GRCh38]
Chr17:27069485 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_178170.3(NEK8):c.*338G>A single nucleotide variant Nephronophthisis 9 [RCV000381359] Chr17:28742325 [GRCh38]
Chr17:27069343 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_178170.3(NEK8):c.1251C>T (p.Ser417=) single nucleotide variant Nephronophthisis 9 [RCV000313424]|not provided [RCV004694309] Chr17:28738699 [GRCh38]
Chr17:27065717 [GRCh37]
Chr17:17q11.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_178170.3(NEK8):c.*578A>C single nucleotide variant Nephronophthisis 9 [RCV000407433]|not provided [RCV004705349] Chr17:28742565 [GRCh38]
Chr17:27069583 [GRCh37]
Chr17:17q11.2		 likely benign|uncertain significance
NM_178170.3(NEK8):c.*388C>T single nucleotide variant Nephronophthisis 9 [RCV000399602]|not provided [RCV004709585] Chr17:28742375 [GRCh38]
Chr17:28742375..28742376 [GRCh38]
Chr17:27069393 [GRCh37]
Chr17:27069393..27069394 [GRCh37]
Chr17:17q11.2		 benign
NM_178170.3(NEK8):c.*381C>T single nucleotide variant Nephronophthisis 9 [RCV000349907] Chr17:28742368 [GRCh38]
Chr17:27069386 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_178170.3(NEK8):c.294C>G (p.Ser98=) single nucleotide variant Nephronophthisis 9 [RCV002059279]|not provided [RCV000298045] Chr17:28734812 [GRCh38]
Chr17:27061830 [GRCh37]
Chr17:17q11.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_178170.3(NEK8):c.618+12C>T single nucleotide variant Nephronophthisis 9 [RCV000389932] Chr17:28735383 [GRCh38]
Chr17:27062401 [GRCh37]
Chr17:17q11.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_178170.3(NEK8):c.2076dup (p.Ter693LeuextTer?) duplication Renal-hepatic-pancreatic dysplasia 2 [RCV000583089]|not provided [RCV002293465] Chr17:28741977..28741978 [GRCh38]
Chr17:27068995..27068996 [GRCh37]
Chr17:17q11.2		 pathogenic|likely pathogenic
NM_178170.3(NEK8):c.*666C>T single nucleotide variant Nephronophthisis 9 [RCV000302736] Chr17:28742653 [GRCh38]
Chr17:27069671 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_178170.3(NEK8):c.*421G>A single nucleotide variant Nephronophthisis 9 [RCV000398749] Chr17:28742408 [GRCh38]
Chr17:27069426 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_178170.3(NEK8):c.1088C>T (p.Ala363Val) single nucleotide variant Inborn genetic diseases [RCV003243638] Chr17:28738111 [GRCh38]
Chr17:27065129 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_178170.3(NEK8):c.*396G>A single nucleotide variant Nephronophthisis 9 [RCV000295976] Chr17:28742383 [GRCh38]
Chr17:27069401 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_178170.3(NEK8):c.*163G>T single nucleotide variant Nephronophthisis 9 [RCV000285712] Chr17:28742150 [GRCh38]
Chr17:27069168 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_178170.3(NEK8):c.*763A>G single nucleotide variant Nephronophthisis 9 [RCV000357635] Chr17:28742750 [GRCh38]
Chr17:27069768 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_178170.3(NEK8):c.1738G>A (p.Gly580Ser) single nucleotide variant Renal-hepatic-pancreatic dysplasia 2 [RCV000584400] Chr17:28741083 [GRCh38]
Chr17:27068101 [GRCh37]
Chr17:17q11.2		 pathogenic
NM_178170.3(NEK8):c.47+1G>A single nucleotide variant Renal-hepatic-pancreatic dysplasia 2 [RCV000582467] Chr17:28728861 [GRCh38]
Chr17:27055879 [GRCh37]
Chr17:17q11.2		 pathogenic
NM_178170.3(NEK8):c.1384C>T (p.Arg462Ter) single nucleotide variant Renal-hepatic-pancreatic dysplasia 2 [RCV000581336] Chr17:28739168 [GRCh38]
Chr17:27066186 [GRCh37]
Chr17:17q11.2		 pathogenic
NM_178170.3(NEK8):c.259A>G (p.Thr87Ala) single nucleotide variant Renal-hepatic-pancreatic dysplasia 2 [RCV000582388] Chr17:28734777 [GRCh38]
Chr17:27061795 [GRCh37]
Chr17:17q11.2		 pathogenic
NM_178170.3(NEK8):c.379C>T (p.Arg127Ter) single nucleotide variant Nephronophthisis 9 [RCV002497226]|Nephronophthisis 9 [RCV002530757]|Renal-hepatic-pancreatic dysplasia 2 [RCV000583490] Chr17:28734897 [GRCh38]
Chr17:27061915 [GRCh37]
Chr17:17q11.2		 pathogenic
NM_178170.3(NEK8):c.1804C>T (p.Arg602Trp) single nucleotide variant Nephronophthisis 9 [RCV001065178]|Renal-hepatic-pancreatic dysplasia 2 [RCV000582929] Chr17:28741149 [GRCh38]
Chr17:27068167 [GRCh37]
Chr17:17q11.2		 pathogenic|uncertain significance
NM_178170.3(NEK8):c.238del (p.Met80fs) deletion not provided [RCV000599446] Chr17:28734173 [GRCh38]
Chr17:27061191 [GRCh37]
Chr17:17q11.2		 pathogenic
NM_178170.3(NEK8):c.589G>C (p.Ala197Pro) single nucleotide variant Neoplasm of the pancreas [RCV002244868] Chr17:28735342 [GRCh38]
Chr17:27062360 [GRCh37]
Chr17:17q11.2		 likely pathogenic
NM_178170.3(NEK8):c.581A>C (p.Tyr194Ser) single nucleotide variant Nephronophthisis 9 [RCV000464200] Chr17:28735334 [GRCh38]
Chr17:27062352 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_178170.3(NEK8):c.9G>A (p.Lys3=) single nucleotide variant NEK8-related disorder [RCV003942530]|Nephronophthisis 9 [RCV001428625] Chr17:28728822 [GRCh38]
Chr17:27055840 [GRCh37]
Chr17:17q11.2		 likely benign
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938) copy number gain See cases [RCV000511439] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
NM_178170.3(NEK8):c.23G>A (p.Arg8Gln) single nucleotide variant Inborn genetic diseases [RCV003277941] Chr17:28728836 [GRCh38]
Chr17:27055854 [GRCh37]
Chr17:17q11.2		 uncertain significance
GRCh37/hg19 17q11.1-11.2(chr17:25248166-30645676)x1 copy number loss Mitogen-activated protein kinase kinase inhibitor response [RCV000626439] Chr17:25248166..30645676 [GRCh37]
Chr17:17q11.1-11.2		 drug response
NM_178170.3(NEK8):c.767C>G (p.Pro256Arg) single nucleotide variant Inborn genetic diseases [RCV003257181] Chr17:28737454 [GRCh38]
Chr17:27064472 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_178170.3(NEK8):c.743del (p.Pro248fs) deletion Nephronophthisis 9 [RCV000540179] Chr17:28737429 [GRCh38]
Chr17:27064447 [GRCh37]
Chr17:17q11.2		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3 copy number gain See cases [RCV000512441] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
NM_178170.3(NEK8):c.1299+3G>T single nucleotide variant NEK8-related disorder [RCV003945642]|Nephronophthisis 9 [RCV000648811]|Nephronophthisis 9 [RCV002493034] Chr17:28738750 [GRCh38]
Chr17:27065768 [GRCh37]
Chr17:17q11.2		 likely benign|uncertain significance
NM_178170.3(NEK8):c.889+1G>T single nucleotide variant Nephronophthisis 9 [RCV000648812]|Nephronophthisis 9 [RCV002493035] Chr17:28737737 [GRCh38]
Chr17:27064755 [GRCh37]
Chr17:17q11.2		 likely pathogenic
NM_178170.3(NEK8):c.889+2del deletion Nephronophthisis 9 [RCV000648813] Chr17:28737738 [GRCh38]
Chr17:27064756 [GRCh37]
Chr17:17q11.2		 likely pathogenic
NM_178170.3(NEK8):c.977G>A (p.Arg326Gln) single nucleotide variant Nephronophthisis 9 [RCV000648814]|Nephronophthisis 9 [RCV002493036] Chr17:28737906 [GRCh38]
Chr17:27064924 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_178170.3(NEK8):c.339G>C (p.Leu113=) single nucleotide variant Nephronophthisis 9 [RCV000648815] Chr17:28734857 [GRCh38]
Chr17:27061875 [GRCh37]
Chr17:17q11.2		 likely benign
NM_178170.3(NEK8):c.1237A>C (p.Met413Leu) single nucleotide variant Kidney disorder [RCV002294361]|NEK8-related disorder [RCV003945643]|Nephronophthisis 9 [RCV000648817]|not provided [RCV004704166] Chr17:28738685 [GRCh38]
Chr17:27065703 [GRCh37]
Chr17:17q11.2		 likely benign|uncertain significance
NM_178170.3(NEK8):c.139G>T (p.Ala47Ser) single nucleotide variant Nephronophthisis 9 [RCV000692924] Chr17:28734074 [GRCh38]
Chr17:27061092 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_178170.3(NEK8):c.419G>A (p.Arg140His) single nucleotide variant Nephronophthisis 9 [RCV000704794] Chr17:28734937 [GRCh38]
Chr17:27061955 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_178170.3(NEK8):c.2012T>C (p.Val671Ala) single nucleotide variant not provided [RCV000722986] Chr17:28741533 [GRCh38]
Chr17:27068551 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_178170.3(NEK8):c.254-238dup duplication not provided [RCV001546123] Chr17:28734519..28734520 [GRCh38]
Chr17:27061537..27061538 [GRCh37]
Chr17:17q11.2		 likely benign
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3 copy number gain not provided [RCV000739324] Chr17:8547..81060040 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3 copy number gain not provided [RCV000739320] Chr17:7214..81058310 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3 copy number gain not provided [RCV000739325] Chr17:12344..81057996 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p11.2-q11.2(chr17:21279289-27474974)x2 copy number gain not provided [RCV000739439] Chr17:21279289..27474974 [GRCh37]
Chr17:17p11.2-q11.2		 likely pathogenic
NM_178170.3(NEK8):c.316C>T (p.Leu106=) single nucleotide variant not provided [RCV000875144] Chr17:28734834 [GRCh38]
Chr17:27061852 [GRCh37]
Chr17:17q11.2		 likely benign
NM_178170.3(NEK8):c.254-204C>T single nucleotide variant not provided [RCV001693267] Chr17:28734568 [GRCh38]
Chr17:27061586 [GRCh37]
Chr17:17q11.2		 benign
NM_178170.3(NEK8):c.818G>A (p.Arg273His) single nucleotide variant Inborn genetic diseases [RCV003245997]|NEK8-related disorder [RCV004754976] Chr17:28737505 [GRCh38]
Chr17:27064523 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_178170.3(NEK8):c.47+148C>T single nucleotide variant not provided [RCV001724682] Chr17:28729008 [GRCh38]
Chr17:27056026 [GRCh37]
Chr17:17q11.2		 benign
NM_178170.3(NEK8):c.744A>G (p.Pro248=) single nucleotide variant not provided [RCV000881596] Chr17:28737431 [GRCh38]
Chr17:27064449 [GRCh37]
Chr17:17q11.2		 likely benign
NM_178170.3(NEK8):c.1464G>A (p.Gln488=) single nucleotide variant Nephronophthisis 9 [RCV000866843] Chr17:28740509 [GRCh38]
Chr17:27067527 [GRCh37]
Chr17:17q11.2		 likely benign
NM_178170.3(NEK8):c.1039G>A (p.Val347Ile) single nucleotide variant Nephronophthisis 9 [RCV001126426] Chr17:28737968 [GRCh38]
Chr17:27064986 [GRCh37]
Chr17:17q11.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_178170.3(NEK8):c.807G>C (p.Val269=) single nucleotide variant not provided [RCV000925040] Chr17:28737494 [GRCh38]
Chr17:27064512 [GRCh37]
Chr17:17q11.2		 likely benign
NM_178170.3(NEK8):c.1263G>A (p.Gly421=) single nucleotide variant NEK8-related disorder [RCV003908192]|Nephronophthisis 9 [RCV002501223]|Nephronophthisis 9 [RCV002538925] Chr17:28738711 [GRCh38]
Chr17:27065729 [GRCh37]
Chr17:17q11.2		 likely benign
NM_178170.3(NEK8):c.1578G>A (p.Lys526=) single nucleotide variant not provided [RCV000928976] Chr17:28740831 [GRCh38]
Chr17:27067849 [GRCh37]
Chr17:17q11.2		 likely benign
NM_178170.3(NEK8):c.936G>A (p.Ser312=) single nucleotide variant NEK8-related disorder [RCV003965720]|Nephronophthisis 9 [RCV001439831]|Nephronophthisis 9 [RCV002478975]|not provided [RCV004808916] Chr17:28737865 [GRCh38]
Chr17:27064883 [GRCh37]
Chr17:17q11.2		 likely benign
NM_178170.3(NEK8):c.828-1G>C single nucleotide variant Nephronophthisis 9 [RCV001041320] Chr17:28737674 [GRCh38]
Chr17:27064692 [GRCh37]
Chr17:17q11.2		 likely pathogenic
NM_178170.3(NEK8):c.985A>G (p.Met329Val) single nucleotide variant Nephronophthisis 9 [RCV001057869]|Nephronophthisis 9 [RCV002482023] Chr17:28737914 [GRCh38]
Chr17:27064932 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_178170.3(NEK8):c.141del (p.Ala48fs) deletion Nephronophthisis 9 [RCV000779210] Chr17:28734076 [GRCh38]
Chr17:27061094 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_178170.3(NEK8):c.1332_1333dup (p.Met445fs) duplication Nephronophthisis 9 [RCV000779211] Chr17:28739114..28739115 [GRCh38]
Chr17:27066132..27066133 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_178170.3(NEK8):c.2016dup (p.Cys673fs) duplication Nephronophthisis 9 [RCV000779212] Chr17:28741535..28741536 [GRCh38]
Chr17:27068553..27068554 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_178170.3(NEK8):c.1036G>A (p.Gly346Ser) single nucleotide variant Nephronophthisis 9 [RCV002487629]|Renal-hepatic-pancreatic dysplasia 2 [RCV000791121] Chr17:28737965 [GRCh38]
Chr17:27064983 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_178170.3(NEK8):c.1371C>A (p.Ala457=) single nucleotide variant not provided [RCV000864074] Chr17:28739155 [GRCh38]
Chr17:27066173 [GRCh37]
Chr17:17q11.2		 likely benign
NM_178170.3(NEK8):c.1167G>A (p.Ser389=) single nucleotide variant not provided [RCV000864505] Chr17:28738190 [GRCh38]
Chr17:27065208 [GRCh37]
Chr17:17q11.2		 likely benign
NM_178170.3(NEK8):c.435C>T (p.Ile145=) single nucleotide variant Nephronophthisis 9 [RCV000862204] Chr17:28734953 [GRCh38]
Chr17:27061971 [GRCh37]
Chr17:17q11.2		 likely benign
NM_178170.3(NEK8):c.1548C>G (p.Ala516=) single nucleotide variant not provided [RCV000867749] Chr17:28740593 [GRCh38]
Chr17:27067611 [GRCh37]
Chr17:17q11.2		 likely benign
NM_178170.3(NEK8):c.2010C>T (p.Ser670=) single nucleotide variant NEK8-related disorder [RCV003892787]|Nephronophthisis 9 [RCV002501214]|not provided [RCV000862531] Chr17:28741531 [GRCh38]
Chr17:27068549 [GRCh37]
Chr17:17q11.2		 likely benign
NM_178170.3(NEK8):c.1539T>C (p.Pro513=) single nucleotide variant Nephronophthisis 9 [RCV001122778] Chr17:28740584 [GRCh38]
Chr17:27067602 [GRCh37]
Chr17:17q11.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_178170.3(NEK8):c.804C>T (p.Asp268=) single nucleotide variant not provided [RCV000873001] Chr17:28737491 [GRCh38]
Chr17:27064509 [GRCh37]
Chr17:17q11.2		 likely benign
NM_178170.3(NEK8):c.1100G>C (p.Ser367Thr) single nucleotide variant Nephronophthisis 9 [RCV001126429]|Nephronophthisis 9 [RCV002493384]|Premature ovarian insufficiency [RCV000766163] Chr17:28738123 [GRCh38]
Chr17:27065141 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_178170.3(NEK8):c.1246G>A (p.Gly416Ser) single nucleotide variant Nephronophthisis 9 [RCV000805813]|Nephronophthisis 9 [RCV002477852]|not provided [RCV003456435] Chr17:28738694 [GRCh38]
Chr17:27065712 [GRCh37]
Chr17:17q11.2		 uncertain significance
GRCh37/hg19 17p11.2-q21.2(chr17:21690653-38772647)x3 copy number gain not provided [RCV000846852] Chr17:21690653..38772647 [GRCh37]
Chr17:17p11.2-q21.2		 pathogenic
NM_178170.3(NEK8):c.656C>A (p.Thr219Asn) single nucleotide variant Nephronophthisis 9 [RCV000792726] Chr17:28737343 [GRCh38]
Chr17:27064361 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_178170.3(NEK8):c.976C>T (p.Arg326Trp) single nucleotide variant Inborn genetic diseases [RCV003166136]|Nephronophthisis 9 [RCV000796251]|Nephronophthisis 9 [RCV002477813] Chr17:28737905 [GRCh38]
Chr17:27064923 [GRCh37]
Chr17:17q11.2		 uncertain significance
GRCh37/hg19 17q11.1-11.2(chr17:25274363-28450707)x3 copy number gain not provided [RCV001006886] Chr17:25274363..28450707 [GRCh37]
Chr17:17q11.1-11.2		 pathogenic
NM_178170.3(NEK8):c.1915A>C (p.Lys639Gln) single nucleotide variant Nephronophthisis 9 [RCV001223157] Chr17:28741436 [GRCh38]
Chr17:27068454 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_178170.3(NEK8):c.1406G>A (p.Arg469His) single nucleotide variant Nephronophthisis 9 [RCV001239909] Chr17:28739190 [GRCh38]
Chr17:27066208 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_178170.3(NEK8):c.1177A>G (p.Ile393Val) single nucleotide variant Nephronophthisis 9 [RCV001217892] Chr17:28738200 [GRCh38]
Chr17:27065218 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_178170.3(NEK8):c.824G>A (p.Arg275Gln) single nucleotide variant Inborn genetic diseases [RCV003251991] Chr17:28737511 [GRCh38]
Chr17:27064529 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_178170.3(NEK8):c.1147C>A (p.Arg383Ser) single nucleotide variant Inborn genetic diseases [RCV003270046] Chr17:28738170 [GRCh38]
Chr17:27065188 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_178170.3(NEK8):c.1252G>A (p.Gly418Ser) single nucleotide variant Inborn genetic diseases [RCV003259111]|Nephronophthisis 9 [RCV001128477]|Nephronophthisis 9 [RCV002480505] Chr17:28738700 [GRCh38]
Chr17:27065718 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_178170.3(NEK8):c.801C>T (p.Thr267=) single nucleotide variant Nephronophthisis 9 [RCV001123772]|not provided [RCV003992449] Chr17:28737488 [GRCh38]
Chr17:27064506 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_178170.3(NEK8):c.*382G>A single nucleotide variant Nephronophthisis 9 [RCV001126511] Chr17:28742369 [GRCh38]
Chr17:27069387 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_178170.3(NEK8):c.254-73del deletion not provided [RCV001591591] Chr17:28734699 [GRCh38]
Chr17:27061717 [GRCh37]
Chr17:17q11.2		 likely benign
NM_178170.3(NEK8):c.254-159G>A single nucleotide variant not provided [RCV001679614] Chr17:28734613 [GRCh38]
Chr17:27061631 [GRCh37]
Chr17:17q11.2		 benign
NM_178170.3(NEK8):c.1842G>A (p.Lys614=) single nucleotide variant not provided [RCV000907736] Chr17:28741187 [GRCh38]
Chr17:27068205 [GRCh37]
Chr17:17q11.2		 likely benign
NM_178170.3(NEK8):c.1632G>C (p.Val544=) single nucleotide variant Nephronophthisis 9 [RCV001523192]|Nephronophthisis 9 [RCV002501293] Chr17:28740885 [GRCh38]
Chr17:27067903 [GRCh37]
Chr17:17q11.2		 benign|likely benign
NM_178170.3(NEK8):c.1076C>T (p.Pro359Leu) single nucleotide variant Nephronophthisis 9 [RCV001126427] Chr17:28738099 [GRCh38]
Chr17:27065117 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_178170.3(NEK8):c.737G>A (p.Arg246Gln) single nucleotide variant Nephronophthisis 9 [RCV001244802] Chr17:28737424 [GRCh38]
Chr17:27064442 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_178170.3(NEK8):c.1793G>A (p.Arg598His) single nucleotide variant Nephronophthisis 9 [RCV001122779]|Nephronophthisis 9 [RCV002491382] Chr17:28741138 [GRCh38]
Chr17:27068156 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_178170.3(NEK8):c.1925G>A (p.Arg642Gln) single nucleotide variant Nephronophthisis 9 [RCV001122781] Chr17:28741446 [GRCh38]
Chr17:27068464 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_178170.3(NEK8):c.*637C>G single nucleotide variant Nephronophthisis 9 [RCV001122882] Chr17:28742624 [GRCh38]
Chr17:27069642 [GRCh37]
Chr17:17q11.2		 benign
NM_178170.3(NEK8):c.1300-13C>A single nucleotide variant Nephronophthisis 9 [RCV001128478] Chr17:28739071 [GRCh38]
Chr17:27066089 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_178170.3(NEK8):c.*474G>A single nucleotide variant Nephronophthisis 9 [RCV001128572] Chr17:28742461 [GRCh38]
Chr17:27069479 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_178170.3(NEK8):c.*574A>C single nucleotide variant Nephronophthisis 9 [RCV001128575] Chr17:28742561 [GRCh38]
Chr17:27069579 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_178170.3(NEK8):c.881G>A (p.Arg294His) single nucleotide variant Inborn genetic diseases [RCV002563976]|Nephronophthisis 9 [RCV001240493]|not provided [RCV003132326] Chr17:28737728 [GRCh38]
Chr17:27064746 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_178170.3(NEK8):c.568G>A (p.Gly190Ser) single nucleotide variant not provided [RCV004812655] Chr17:28735321 [GRCh38]
Chr17:27062339 [GRCh37]		 uncertain significance
NM_178170.3(NEK8):c.254-238del deletion not provided [RCV001618945] Chr17:28734520 [GRCh38]
Chr17:27061538 [GRCh37]
Chr17:17q11.2		 benign
NM_178170.3(NEK8):c.2068G>A (p.Val690Ile) single nucleotide variant Inborn genetic diseases [RCV004032251]|Nephronophthisis 9 [RCV001123872]|Nephronophthisis 9 [RCV002480499] Chr17:28741976 [GRCh38]
Chr17:27068994 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_178170.3(NEK8):c.*523C>T single nucleotide variant Nephronophthisis 9 [RCV001128573] Chr17:28742510 [GRCh38]
Chr17:27069528 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_178170.3(NEK8):c.*526A>G single nucleotide variant Nephronophthisis 9 [RCV001128574] Chr17:28742513 [GRCh38]
Chr17:27069531 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_178170.3(NEK8):c.1145C>T (p.Ser382Leu) single nucleotide variant Inborn genetic diseases [RCV002556750]|Nephronophthisis 9 [RCV001126430]|Nephronophthisis 9 [RCV002480503] Chr17:28738168 [GRCh38]
Chr17:27065186 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_178170.3(NEK8):c.899G>A (p.Arg300Gln) single nucleotide variant NEK8-related disorder [RCV003963069]|Nephronophthisis 9 [RCV001126425] Chr17:28737828 [GRCh38]
Chr17:27064846 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_178170.3(NEK8):c.1078C>A (p.Pro360Thr) single nucleotide variant Nephronophthisis 9 [RCV001126428] Chr17:28738101 [GRCh38]
Chr17:27065119 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_178170.3(NEK8):c.1416C>G (p.Ser472Arg) single nucleotide variant Nephronophthisis 9 [RCV001122777] Chr17:28739200 [GRCh38]
Chr17:27066218 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_178170.3(NEK8):c.1795C>G (p.Arg599Gly) single nucleotide variant Nephronophthisis 9 [RCV001122780] Chr17:28741140 [GRCh38]
Chr17:27068158 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_178170.3(NEK8):c.*582C>A single nucleotide variant Nephronophthisis 9 [RCV001122881]|not provided [RCV004694763] Chr17:28742569 [GRCh38]
Chr17:27069587 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_178170.3(NEK8):c.1992C>G (p.His664Gln) single nucleotide variant Inborn genetic diseases [RCV004032250]|Nephronophthisis 9 [RCV001123871]|Nephronophthisis 9 [RCV002482237] Chr17:28741513 [GRCh38]
Chr17:27068531 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_178170.3(NEK8):c.*575A>C single nucleotide variant Nephronophthisis 9 [RCV001122880] Chr17:28742562 [GRCh38]
Chr17:27069580 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_178170.3(NEK8):c.*759C>G single nucleotide variant Nephronophthisis 9 [RCV001122883] Chr17:28742746 [GRCh38]
Chr17:27069764 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_178170.3(NEK8):c.1166C>T (p.Ser389Leu) single nucleotide variant Familial cystic renal disease [RCV004789492]|Nephronophthisis 9 [RCV001247528]|Nephronophthisis 9 [RCV002491839] Chr17:28738189 [GRCh38]
Chr17:27065207 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_178170.3(NEK8):c.666T>C (p.Pro222=) single nucleotide variant Nephronophthisis 9 [RCV001123771] Chr17:28737353 [GRCh38]
Chr17:27064371 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_178170.3(NEK8):c.1967G>A (p.Arg656Gln) single nucleotide variant Inborn genetic diseases [RCV002556683]|Nephronophthisis 9 [RCV001123870]|Nephronophthisis 9 [RCV002482236] Chr17:28741488 [GRCh38]
Chr17:27068506 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_178170.3(NEK8):c.22C>G (p.Arg8Gly) single nucleotide variant Nephronophthisis 9 [RCV001213128]|Nephronophthisis 9 [RCV002484162] Chr17:28728835 [GRCh38]
Chr17:27055853 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_178170.3(NEK8):c.654C>T (p.Gly218=) single nucleotide variant Nephronophthisis 9 [RCV001037781] Chr17:28737341 [GRCh38]
Chr17:27064359 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_178170.3(NEK8):c.48-10G>A single nucleotide variant Nephronophthisis 9 [RCV001123770] Chr17:28733973 [GRCh38]
Chr17:27060991 [GRCh37]
Chr17:17q11.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_178170.3(NEK8):c.*19T>C single nucleotide variant Nephronophthisis 9 [RCV001123873]|not provided [RCV002265002] Chr17:28742006 [GRCh38]
Chr17:27069024 [GRCh37]
Chr17:17q11.2		 benign|likely benign
NM_178170.3(NEK8):c.1232T>A (p.Ile411Asn) single nucleotide variant Nephronophthisis 9 [RCV001128476] Chr17:28738680 [GRCh38]
Chr17:27065698 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_178170.3(NEK8):c.935C>T (p.Ser312Leu) single nucleotide variant Nephronophthisis 9 [RCV001041288]|Nephronophthisis 9 [RCV002489570] Chr17:28737864 [GRCh38]
Chr17:27064882 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_178170.3(NEK8):c.972C>G (p.Pro324=) single nucleotide variant Nephronophthisis 9 [RCV002546645]|Renal-hepatic-pancreatic dysplasia 2 [RCV001333669] Chr17:28737901 [GRCh38]
Chr17:27064919 [GRCh37]
Chr17:17q11.2		 likely benign|uncertain significance
K157Q single nucleotide variant Polycystic kidney disease 8 [RCV004597560]   pathogenic
NM_178170.3(NEK8):c.2000C>T (p.Thr667Met) single nucleotide variant Inborn genetic diseases [RCV002546224]|Nephronophthisis 9 [RCV001327457]|Nephronophthisis 9 [RCV002504515] Chr17:28741521 [GRCh38]
Chr17:27068539 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_178170.3(NEK8):c.2072C>T (p.Pro691Leu) single nucleotide variant Inborn genetic diseases [RCV002543231]|Nephronophthisis 9 [RCV001308321]|Nephronophthisis 9 [RCV002499588] Chr17:28741980 [GRCh38]
Chr17:27068998 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_178170.3(NEK8):c.673G>C (p.Asp225His) single nucleotide variant Nephronophthisis 9 [RCV001306128] Chr17:28737360 [GRCh38]
Chr17:27064378 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_178170.3(NEK8):c.322TTC[1] (p.Phe109del) microsatellite Renal-hepatic-pancreatic dysplasia 2 [RCV001281189] Chr17:28734839..28734841 [GRCh38]
Chr17:27061857..27061859 [GRCh37]
Chr17:17q11.2		 likely pathogenic
NM_178170.3(NEK8):c.2077del (p.Ter693GluextTer?) deletion Nephronophthisis 9 [RCV001300836]|Nephronophthisis 9 [RCV002476394] Chr17:28741985 [GRCh38]
Chr17:27069003 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_178170.3(NEK8):c.1485G>A (p.Gln495=) single nucleotide variant Nephronophthisis 9 [RCV001421736] Chr17:28740530 [GRCh38]
Chr17:27067548 [GRCh37]
Chr17:17q11.2		 likely benign
NM_178170.3(NEK8):c.506A>G (p.Tyr169Cys) single nucleotide variant Nephronophthisis 9 [RCV001333095] Chr17:28735259 [GRCh38]
Chr17:27062277 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_178170.3(NEK8):c.907G>A (p.Val303Met) single nucleotide variant Nephronophthisis 9 [RCV001339703] Chr17:28737836 [GRCh38]
Chr17:27064854 [GRCh37]
Chr17:17q11.2		 likely benign|uncertain significance
NM_178170.3(NEK8):c.1771G>A (p.Gly591Arg) single nucleotide variant Nephronophthisis 9 [RCV001339721] Chr17:28741116 [GRCh38]
Chr17:27068134 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_178170.3(NEK8):c.1523T>A (p.Met508Lys) single nucleotide variant Nephronophthisis 9 [RCV001299102] Chr17:28740568 [GRCh38]
Chr17:27067586 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_178170.3(NEK8):c.579C>T (p.Leu193=) single nucleotide variant Nephronophthisis 9 [RCV001499011] Chr17:28735332 [GRCh38]
Chr17:27062350 [GRCh37]
Chr17:17q11.2		 likely benign
NM_178170.3(NEK8):c.444C>T (p.Phe148=) single nucleotide variant Nephronophthisis 9 [RCV001489608] Chr17:28734962 [GRCh38]
Chr17:27061980 [GRCh37]
Chr17:17q11.2		 likely benign
NM_178170.3(NEK8):c.1092C>T (p.Gly364=) single nucleotide variant Nephronophthisis 9 [RCV001504058]|Nephronophthisis 9 [RCV002501730] Chr17:28738115 [GRCh38]
Chr17:27065133 [GRCh37]
Chr17:17q11.2		 likely benign
NM_178170.3(NEK8):c.2073C>G (p.Pro691=) single nucleotide variant Nephronophthisis 9 [RCV001438773] Chr17:28741981 [GRCh38]
Chr17:27068999 [GRCh37]
Chr17:17q11.2		 likely benign
NM_178170.3(NEK8):c.515dup (p.Pro172_Glu173insTer) duplication Renal-hepatic-pancreatic dysplasia 2 [RCV001533170] Chr17:28735264..28735265 [GRCh38]
Chr17:27062282..27062283 [GRCh37]
Chr17:17q11.2		 pathogenic
NM_178170.3(NEK8):c.253+65G>A single nucleotide variant not provided [RCV001691076] Chr17:28734253 [GRCh38]
Chr17:27061271 [GRCh37]
Chr17:17q11.2		 benign
NM_178170.3(NEK8):c.47+147C>A single nucleotide variant not provided [RCV001685035] Chr17:28729007 [GRCh38]
Chr17:27056025 [GRCh37]
Chr17:17q11.2		 benign
NM_178170.3(NEK8):c.1891+58G>C single nucleotide variant not provided [RCV001592249] Chr17:28741294 [GRCh38]
Chr17:27068312 [GRCh37]
Chr17:17q11.2		 likely benign
NM_178170.3(NEK8):c.1956C>A (p.Ala652=) single nucleotide variant Nephronophthisis 9 [RCV001423505] Chr17:28741477 [GRCh38]
Chr17:27068495 [GRCh37]
Chr17:17q11.2		 likely benign
NM_178170.3(NEK8):c.1489G>C (p.Ala497Pro) single nucleotide variant Nephronophthisis 9 [RCV001511521]|not provided [RCV004571039] Chr17:28740534 [GRCh38]
Chr17:27067552 [GRCh37]
Chr17:17q11.2		 benign|likely benign
NM_178170.3(NEK8):c.1049C>T (p.Ser350Phe) single nucleotide variant Nephronophthisis 9 [RCV003108470] Chr17:28737978 [GRCh38]
Chr17:27064996 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_178170.3(NEK8):c.301GAG[2] (p.Glu103del) microsatellite Renal-hepatic-pancreatic dysplasia 2 [RCV002244275] Chr17:28734818..28734820 [GRCh38]
Chr17:27061836..27061838 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_178170.3(NEK8):c.185A>G (p.Asn62Ser) single nucleotide variant not provided [RCV001760778] Chr17:28734120 [GRCh38]
Chr17:27061138 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_178170.3(NEK8):c.1072-2A>G single nucleotide variant not provided [RCV001782517] Chr17:28738093 [GRCh38]
Chr17:27065111 [GRCh37]
Chr17:17q11.2		 likely pathogenic
NM_178170.3(NEK8):c.145C>G (p.Gln49Glu) single nucleotide variant not provided [RCV001767180] Chr17:28734080 [GRCh38]
Chr17:27061098 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_178170.3(NEK8):c.619-38C>T single nucleotide variant not provided [RCV001810352] Chr17:28737268 [GRCh38]
Chr17:27064286 [GRCh37]
Chr17:17q11.2		 likely benign
NM_178170.3(NEK8):c.536C>G (p.Pro179Arg) single nucleotide variant Renal-hepatic-pancreatic dysplasia 2 [RCV001823475] Chr17:28735289 [GRCh38]
Chr17:27062307 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_178170.3(NEK8):c.186T>A (p.Asn62Lys) single nucleotide variant Nephronophthisis 9 [RCV001968818] Chr17:28734121 [GRCh38]
Chr17:27061139 [GRCh37]
Chr17:17q11.2		 uncertain significance
GRCh37/hg19 17p11.2-q11.2(chr17:21690653-28281232) copy number gain not specified [RCV002052591] Chr17:21690653..28281232 [GRCh37]
Chr17:17p11.2-q11.2		 pathogenic
NM_178170.3(NEK8):c.857C>G (p.Thr286Arg) single nucleotide variant Inborn genetic diseases [RCV002562098]|Nephronophthisis 9 [RCV001946426]|Nephronophthisis 9 [RCV002492020] Chr17:28737704 [GRCh38]
Chr17:27064722 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_178170.3(NEK8):c.269A>G (p.Glu90Gly) single nucleotide variant Nephronophthisis 9 [RCV002002851]|Nephronophthisis 9 [RCV002484868] Chr17:28734787 [GRCh38]
Chr17:27061805 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_178170.3(NEK8):c.1158G>A (p.Glu386=) single nucleotide variant Nephronophthisis 9 [RCV001887792] Chr17:28738181 [GRCh38]
Chr17:27065199 [GRCh37]
Chr17:17q11.2		 likely benign|uncertain significance
NM_178170.3(NEK8):c.2066C>T (p.Pro689Leu) single nucleotide variant Nephronophthisis 9 [RCV001962149] Chr17:28741974 [GRCh38]
Chr17:27068992 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_178170.3(NEK8):c.1736C>T (p.Ser579Leu) single nucleotide variant Inborn genetic diseases [RCV002573536]|Nephronophthisis 9 [RCV002000323]|Nephronophthisis 9 [RCV002507743] Chr17:28741081 [GRCh38]
Chr17:27068099 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_178170.3(NEK8):c.882_885del (p.Cys295fs) deletion Nephronophthisis 9 [RCV001931248] Chr17:28737729..28737732 [GRCh38]
Chr17:27064747..27064750 [GRCh37]
Chr17:17q11.2		 pathogenic
NM_178170.3(NEK8):c.1045C>T (p.Arg349Cys) single nucleotide variant Nephronophthisis 9 [RCV001974145] Chr17:28737974 [GRCh38]
Chr17:27064992 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_178170.3(NEK8):c.437G>T (p.Gly146Val) single nucleotide variant Nephronophthisis 9 [RCV001992871] Chr17:28734955 [GRCh38]
Chr17:27061973 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_178170.3(NEK8):c.1359_1360del (p.His454fs) microsatellite Nephronophthisis 9 [RCV001952417]|Nephronophthisis 9 [RCV002503649] Chr17:28739140..28739141 [GRCh38]
Chr17:27066158..27066159 [GRCh37]
Chr17:17q11.2		 pathogenic|likely pathogenic
NM_178170.3(NEK8):c.2050+3G>A single nucleotide variant Nephronophthisis 9 [RCV001992942] Chr17:28741574 [GRCh38]
Chr17:27068592 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_178170.3(NEK8):c.1997dup (p.Tyr666Ter) duplication Nephronophthisis 9 [RCV001925927] Chr17:28741517..28741518 [GRCh38]
Chr17:27068535..27068536 [GRCh37]
Chr17:17q11.2		 pathogenic
NM_178170.3(NEK8):c.1078C>T (p.Pro360Ser) single nucleotide variant Nephronophthisis 9 [RCV001925418]|Nephronophthisis 9 [RCV002478329] Chr17:28738101 [GRCh38]
Chr17:27065119 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_178170.3(NEK8):c.984A>G (p.Pro328=) single nucleotide variant Nephronophthisis 9 [RCV002104564] Chr17:28737913 [GRCh38]
Chr17:27064931 [GRCh37]
Chr17:17q11.2		 likely benign
NM_178170.3(NEK8):c.1035C>T (p.Ala345=) single nucleotide variant Nephronophthisis 9 [RCV002086411]|Nephronophthisis 9 [RCV002494350] Chr17:28737964 [GRCh38]
Chr17:27064982 [GRCh37]
Chr17:17q11.2		 likely benign
NM_178170.3(NEK8):c.1773A>G (p.Gly591=) single nucleotide variant Nephronophthisis 9 [RCV002215339] Chr17:28741118 [GRCh38]
Chr17:27068136 [GRCh37]
Chr17:17q11.2		 likely benign
NM_178170.3(NEK8):c.889+17C>T single nucleotide variant Nephronophthisis 9 [RCV002096052]|Nephronophthisis 9 [RCV002494207] Chr17:28737753 [GRCh38]
Chr17:27064771 [GRCh37]
Chr17:17q11.2		 likely benign
NM_178170.3(NEK8):c.1732+19C>A single nucleotide variant Nephronophthisis 9 [RCV002090701] Chr17:28741004 [GRCh38]
Chr17:27068022 [GRCh37]
Chr17:17q11.2		 benign
NM_178170.3(NEK8):c.385C>T (p.Leu129Phe) single nucleotide variant Nephronophthisis 9 [RCV002152957] Chr17:28734903 [GRCh38]
Chr17:27061921 [GRCh37]
Chr17:17q11.2		 likely benign
NM_178170.3(NEK8):c.1071+13G>C single nucleotide variant Nephronophthisis 9 [RCV002153107]|Nephronophthisis 9 [RCV002486959] Chr17:28738013 [GRCh38]
Chr17:27065031 [GRCh37]
Chr17:17q11.2		 likely benign
NM_178170.3(NEK8):c.889+18G>A single nucleotide variant Nephronophthisis 9 [RCV002200246]|Nephronophthisis 9 [RCV002479869] Chr17:28737754 [GRCh38]
Chr17:27064772 [GRCh37]
Chr17:17q11.2		 likely benign
NM_178170.3(NEK8):c.827+20G>A single nucleotide variant Nephronophthisis 9 [RCV002160266] Chr17:28737534 [GRCh38]
Chr17:27064552 [GRCh37]
Chr17:17q11.2		 likely benign
NM_178170.3(NEK8):c.1593C>T (p.His531=) single nucleotide variant Nephronophthisis 9 [RCV003112562] Chr17:28740846 [GRCh38]
Chr17:27067864 [GRCh37]
Chr17:17q11.2		 likely benign
NC_000017.10:g.(?_26684694)_(27581367_?)dup duplication not provided [RCV003116316] Chr17:26684694..27581367 [GRCh37]
Chr17:17q11.2		 uncertain significance
NC_000017.10:g.(?_26684694)_(29701173_?)dup duplication not provided [RCV003123018] Chr17:26684694..29701173 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_178170.3(NEK8):c.287G>T (p.Cys96Phe) single nucleotide variant Nephronophthisis 9 [RCV003121088] Chr17:28734805 [GRCh38]
Chr17:27061823 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_178170.3(NEK8):c.1931G>A (p.Arg644Gln) single nucleotide variant Nephronophthisis 9 [RCV003120088] Chr17:28741452 [GRCh38]
Chr17:27068470 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_178170.3(NEK8):c.508A>T (p.Ile170Phe) single nucleotide variant not provided [RCV003154552] Chr17:28735261 [GRCh38]
Chr17:27062279 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_178170.3(NEK8):c.37G>A (p.Gly13Ser) single nucleotide variant Renal-hepatic-pancreatic dysplasia 2 [RCV003148504] Chr17:28728850 [GRCh38]
Chr17:27055868 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_178170.3(NEK8):c.618+9A>G single nucleotide variant not specified [RCV003151579] Chr17:28735380 [GRCh38]
Chr17:27062398 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_178170.3(NEK8):c.127G>A (p.Glu43Lys) single nucleotide variant Renal-hepatic-pancreatic dysplasia 2 [RCV004556937] Chr17:28734062 [GRCh38]
Chr17:27061080 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_178170.3(NEK8):c.453C>T (p.Ser151=) single nucleotide variant Kidney disorder [RCV002294690] Chr17:28734971 [GRCh38]
Chr17:27061989 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_178170.3(NEK8):c.1148G>C (p.Arg383Pro) single nucleotide variant Renal-hepatic-pancreatic dysplasia 2 [RCV003147898] Chr17:28738171 [GRCh38]
Chr17:27065189 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_178170.3(NEK8):c.1096G>A (p.Gly366Ser) single nucleotide variant not provided [RCV002474216] Chr17:28738119 [GRCh38]
Chr17:27065137 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_178170.3(NEK8):c.1701C>T (p.Asp567=) single nucleotide variant Nephronophthisis 9 [RCV003074132] Chr17:28740954 [GRCh38]
Chr17:27067972 [GRCh37]
Chr17:17q11.2		 likely benign
NM_178170.3(NEK8):c.1328A>G (p.Tyr443Cys) single nucleotide variant Inborn genetic diseases [RCV002906080] Chr17:28739112 [GRCh38]
Chr17:27066130 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_178170.3(NEK8):c.1439G>C (p.Arg480Thr) single nucleotide variant Nephronophthisis 9 [RCV002947883] Chr17:28740484 [GRCh38]
Chr17:27067502 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_178170.3(NEK8):c.1676A>C (p.Asp559Ala) single nucleotide variant Inborn genetic diseases [RCV002793721] Chr17:28740929 [GRCh38]
Chr17:27067947 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_178170.3(NEK8):c.198C>T (p.Tyr66=) single nucleotide variant Nephronophthisis 9 [RCV002908042] Chr17:28734133 [GRCh38]
Chr17:27061151 [GRCh37]
Chr17:17q11.2		 likely benign
NM_178170.3(NEK8):c.59T>C (p.Leu20Pro) single nucleotide variant Inborn genetic diseases [RCV002732269] Chr17:28733994 [GRCh38]
Chr17:27061012 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_178170.3(NEK8):c.869C>T (p.Thr290Ile) single nucleotide variant Inborn genetic diseases [RCV002687399]|NEK8-related disorder [RCV004754940] Chr17:28737716 [GRCh38]
Chr17:27064734 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_178170.3(NEK8):c.312C>A (p.Thr104=) single nucleotide variant Nephronophthisis 9 [RCV003077052] Chr17:28734830 [GRCh38]
Chr17:27061848 [GRCh37]
Chr17:17q11.2		 likely benign
NM_178170.3(NEK8):c.817C>T (p.Arg273Cys) single nucleotide variant Inborn genetic diseases [RCV002749618]|not provided [RCV004765744] Chr17:28737504 [GRCh38]
Chr17:27064522 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_178170.3(NEK8):c.1276G>A (p.Gly426Ser) single nucleotide variant Inborn genetic diseases [RCV002816804] Chr17:28738724 [GRCh38]
Chr17:27065742 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_178170.3(NEK8):c.768C>G (p.Pro256=) single nucleotide variant Nephronophthisis 9 [RCV003015460] Chr17:28737455 [GRCh38]
Chr17:27064473 [GRCh37]
Chr17:17q11.2		 likely benign
NM_178170.3(NEK8):c.1594C>T (p.Leu532Phe) single nucleotide variant Inborn genetic diseases [RCV002906606] Chr17:28740847 [GRCh38]
Chr17:27067865 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_178170.3(NEK8):c.71A>T (p.Lys24Met) single nucleotide variant Inborn genetic diseases [RCV002859392] Chr17:28734006 [GRCh38]
Chr17:27061024 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_178170.3(NEK8):c.988C>T (p.Leu330Phe) single nucleotide variant Nephronophthisis 9 [RCV002923632] Chr17:28737917 [GRCh38]
Chr17:27064935 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_178170.3(NEK8):c.427G>A (p.Val143Ile) single nucleotide variant Inborn genetic diseases [RCV002762832] Chr17:28734945 [GRCh38]
Chr17:27061963 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_178170.3(NEK8):c.1405C>T (p.Arg469Cys) single nucleotide variant Inborn genetic diseases [RCV002759671] Chr17:28739189 [GRCh38]
Chr17:27066207 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_178170.3(NEK8):c.1892-20C>T single nucleotide variant Nephronophthisis 9 [RCV003018663] Chr17:28741393 [GRCh38]
Chr17:27068411 [GRCh37]
Chr17:17q11.2		 likely benign
NM_178170.3(NEK8):c.328G>A (p.Val110Met) single nucleotide variant Nephronophthisis 9 [RCV002999628] Chr17:28734846 [GRCh38]
Chr17:27061864 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_178170.3(NEK8):c.248C>T (p.Ala83Val) single nucleotide variant Nephronophthisis 9 [RCV002913838] Chr17:28734183 [GRCh38]
Chr17:27061201 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_178170.3(NEK8):c.841G>A (p.Val281Met) single nucleotide variant Nephronophthisis 9 [RCV002735053]|not provided [RCV004584978] Chr17:28737688 [GRCh38]
Chr17:27064706 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_178170.3(NEK8):c.650G>C (p.Ser217Thr) single nucleotide variant Nephronophthisis 9 [RCV002895122] Chr17:28737337 [GRCh38]
Chr17:27064355 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_178170.3(NEK8):c.1411G>A (p.Asp471Asn) single nucleotide variant Nephronophthisis 9 [RCV002576144] Chr17:28739195 [GRCh38]
Chr17:27066213 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_178170.3(NEK8):c.2020T>C (p.Cys674Arg) single nucleotide variant Inborn genetic diseases [RCV002850170] Chr17:28741541 [GRCh38]
Chr17:27068559 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_178170.3(NEK8):c.300G>A (p.Leu100=) single nucleotide variant Nephronophthisis 9 [RCV002917544] Chr17:28734818 [GRCh38]
Chr17:27061836 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_178170.3(NEK8):c.779G>A (p.Arg260His) single nucleotide variant Inborn genetic diseases [RCV002890955]|Nephronophthisis 9 [RCV002890956] Chr17:28737466 [GRCh38]
Chr17:27064484 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_178170.3(NEK8):c.1710T>C (p.Thr570=) single nucleotide variant Nephronophthisis 9 [RCV002594453] Chr17:28740963 [GRCh38]
Chr17:27067981 [GRCh37]
Chr17:17q11.2		 likely benign
NM_178170.3(NEK8):c.2075C>G (p.Pro692Arg) single nucleotide variant Nephronophthisis 9 [RCV002890495] Chr17:28741983 [GRCh38]
Chr17:27069001 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_178170.3(NEK8):c.1316C>T (p.Ala439Val) single nucleotide variant Nephronophthisis 9 [RCV002954428] Chr17:28739100 [GRCh38]
Chr17:27066118 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_178170.3(NEK8):c.1084G>C (p.Gly362Arg) single nucleotide variant Nephronophthisis 9 [RCV003058760] Chr17:28738107 [GRCh38]
Chr17:27065125 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_178170.3(NEK8):c.41C>T (p.Ala14Val) single nucleotide variant Inborn genetic diseases [RCV002853817] Chr17:28728854 [GRCh38]
Chr17:27055872 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_178170.3(NEK8):c.1732+13T>G single nucleotide variant Nephronophthisis 9 [RCV002596206] Chr17:28740998 [GRCh38]
Chr17:27068016 [GRCh37]
Chr17:17q11.2		 likely benign
NM_178170.3(NEK8):c.886A>G (p.Arg296Gly) single nucleotide variant Nephronophthisis 9 [RCV002890881] Chr17:28737733 [GRCh38]
Chr17:27064751 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_178170.3(NEK8):c.1696A>G (p.Ile566Val) single nucleotide variant Nephronophthisis 9 [RCV002953859] Chr17:28740949 [GRCh38]
Chr17:27067967 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_178170.3(NEK8):c.1222+11G>C single nucleotide variant Nephronophthisis 9 [RCV003022682] Chr17:28738256 [GRCh38]
Chr17:27065274 [GRCh37]
Chr17:17q11.2		 likely benign
NM_178170.3(NEK8):c.1496G>A (p.Arg499Gln) single nucleotide variant Inborn genetic diseases [RCV004068314]|Nephronophthisis 9 [RCV002967266] Chr17:28740541 [GRCh38]
Chr17:27067559 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_178170.3(NEK8):c.906T>C (p.Pro302=) single nucleotide variant Nephronophthisis 9 [RCV003048916] Chr17:28737835 [GRCh38]
Chr17:27064853 [GRCh37]
Chr17:17q11.2		 likely benign
NM_178170.3(NEK8):c.1454G>A (p.Cys485Tyr) single nucleotide variant Nephronophthisis 9 [RCV002647292] Chr17:28740499 [GRCh38]
Chr17:27067517 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_178170.3(NEK8):c.478G>T (p.Ala160Ser) single nucleotide variant Nephronophthisis 9 [RCV003086643] Chr17:28734996 [GRCh38]
Chr17:27062014 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_178170.3(NEK8):c.1573A>G (p.Asn525Asp) single nucleotide variant Inborn genetic diseases [RCV002921319] Chr17:28740826 [GRCh38]
Chr17:27067844 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_178170.3(NEK8):c.1923G>A (p.Ala641=) single nucleotide variant Nephronophthisis 9 [RCV002963207] Chr17:28741444 [GRCh38]
Chr17:27068462 [GRCh37]
Chr17:17q11.2		 likely benign
NM_178170.3(NEK8):c.1965T>G (p.Pro655=) single nucleotide variant Nephronophthisis 9 [RCV002577672] Chr17:28741486 [GRCh38]
Chr17:27068504 [GRCh37]
Chr17:17q11.2		 likely benign
NM_178170.3(NEK8):c.1044G>A (p.Thr348=) single nucleotide variant Nephronophthisis 9 [RCV002647416] Chr17:28737973 [GRCh38]
Chr17:27064991 [GRCh37]
Chr17:17q11.2		 likely benign
NM_178170.3(NEK8):c.898C>T (p.Arg300Trp) single nucleotide variant Inborn genetic diseases [RCV002940078] Chr17:28737827 [GRCh38]
Chr17:27064845 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_178170.3(NEK8):c.1924C>T (p.Arg642Ter) single nucleotide variant Nephronophthisis 9 [RCV002922544] Chr17:28741445 [GRCh38]
Chr17:27068463 [GRCh37]
Chr17:17q11.2		 pathogenic
NM_178170.3(NEK8):c.255C>T (p.Gly85=) single nucleotide variant Nephronophthisis 9 [RCV002746143] Chr17:28734773 [GRCh38]
Chr17:27061791 [GRCh37]
Chr17:17q11.2		 likely benign
NM_178170.3(NEK8):c.486+11A>G single nucleotide variant Nephronophthisis 9 [RCV002963206] Chr17:28735015 [GRCh38]
Chr17:27062033 [GRCh37]
Chr17:17q11.2		 likely benign
NM_178170.3(NEK8):c.1568+14C>T single nucleotide variant Nephronophthisis 9 [RCV002966797] Chr17:28740627 [GRCh38]
Chr17:27067645 [GRCh37]
Chr17:17q11.2		 likely benign
NM_178170.3(NEK8):c.1204T>C (p.Phe402Leu) single nucleotide variant Nephronophthisis 9 [RCV002676267] Chr17:28738227 [GRCh38]
Chr17:27065245 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_178170.3(NEK8):c.1071+17G>T single nucleotide variant Nephronophthisis 9 [RCV002601528] Chr17:28738017 [GRCh38]
Chr17:27065035 [GRCh37]
Chr17:17q11.2		 likely benign
NM_178170.3(NEK8):c.609C>T (p.Phe203=) single nucleotide variant Nephronophthisis 9 [RCV002715769] Chr17:28735362 [GRCh38]
Chr17:27062380 [GRCh37]
Chr17:17q11.2		 likely benign
NM_178170.3(NEK8):c.234C>T (p.Ile78=) single nucleotide variant Nephronophthisis 9 [RCV002943879] Chr17:28734169 [GRCh38]
Chr17:27061187 [GRCh37]
Chr17:17q11.2		 likely benign
NM_178170.3(NEK8):c.47+17G>A single nucleotide variant Nephronophthisis 9 [RCV003068836] Chr17:28728877 [GRCh38]
Chr17:27055895 [GRCh37]
Chr17:17q11.2		 likely benign
NM_178170.3(NEK8):c.1072-16C>A single nucleotide variant Nephronophthisis 9 [RCV002943094] Chr17:28738079 [GRCh38]
Chr17:27065097 [GRCh37]
Chr17:17q11.2		 likely benign
NM_178170.3(NEK8):c.1086T>A (p.Gly362=) single nucleotide variant Nephronophthisis 9 [RCV003068038] Chr17:28738109 [GRCh38]
Chr17:27065127 [GRCh37]
Chr17:17q11.2		 likely benign
NM_178170.3(NEK8):c.284G>A (p.Arg95His) single nucleotide variant Nephronophthisis 9 [RCV002612480] Chr17:28734802 [GRCh38]
Chr17:27061820 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_178170.3(NEK8):c.1891+9_1891+10del deletion Nephronophthisis 9 [RCV002612485] Chr17:28741245..28741246 [GRCh38]
Chr17:27068263..27068264 [GRCh37]
Chr17:17q11.2		 likely benign
NM_178170.3(NEK8):c.1928G>A (p.Gly643Asp) single nucleotide variant Nephronophthisis 9 [RCV002942321] Chr17:28741449 [GRCh38]
Chr17:27068467 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_178170.3(NEK8):c.1418-1G>A single nucleotide variant Nephronophthisis 9 [RCV004795578] Chr17:28740462 [GRCh38]
Chr17:27067480 [GRCh37]
Chr17:17q11.2		 pathogenic
NM_178170.3(NEK8):c.1465G>A (p.Val489Met) single nucleotide variant Nephronophthisis 9 [RCV004795805] Chr17:28740510 [GRCh38]
Chr17:27067528 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_178170.3(NEK8):c.486G>A (p.Thr162=) single nucleotide variant Nephronophthisis 9 [RCV004795806] Chr17:28735004 [GRCh38]
Chr17:27062022 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_178170.3(NEK8):c.618G>A (p.Ala206=) single nucleotide variant NEK8-related disorder [RCV003900988]|Renal-hepatic-pancreatic dysplasia 2 [RCV003224943] Chr17:28735371 [GRCh38]
Chr17:27062389 [GRCh37]
Chr17:17q11.2		 likely pathogenic|likely benign
NM_178170.3(NEK8):c.778C>T (p.Arg260Cys) single nucleotide variant Inborn genetic diseases [RCV003203612] Chr17:28737465 [GRCh38]
Chr17:27064483 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_178170.3(NEK8):c.2051C>T (p.Ser684Leu) single nucleotide variant Inborn genetic diseases [RCV003200658] Chr17:28741959 [GRCh38]
Chr17:27068977 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_178170.3(NEK8):c.1723G>T (p.Ala575Ser) single nucleotide variant Inborn genetic diseases [RCV003192800] Chr17:28740976 [GRCh38]
Chr17:27067994 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_178170.3(NEK8):c.1702C>A (p.Leu568Met) single nucleotide variant Inborn genetic diseases [RCV003265323] Chr17:28740955 [GRCh38]
Chr17:27067973 [GRCh37]
Chr17:17q11.2		 uncertain significance
GRCh37/hg19 17q11.1-11.2(chr17:25263507-27829791)x3 copy number gain Developmental delay with or without intellectual impairment or behavioral abnormalities [RCV003329553] Chr17:25263507..27829791 [GRCh37]
Chr17:17q11.1-11.2		 uncertain significance
NM_178170.3(NEK8):c.667A>G (p.Ile223Val) single nucleotide variant Inborn genetic diseases [RCV003349563] Chr17:28737354 [GRCh38]
Chr17:27064372 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_178170.3(NEK8):c.225C>T (p.Ala75=) single nucleotide variant Nephronophthisis 9 [RCV003875364] Chr17:28734160 [GRCh38]
Chr17:27061178 [GRCh37]
Chr17:17q11.2		 likely benign
NM_178170.3(NEK8):c.1891+1G>A single nucleotide variant Renal-hepatic-pancreatic dysplasia 2 [RCV003444390] Chr17:28741237 [GRCh38]
Chr17:27068255 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_178170.3(NEK8):c.1568+2T>C single nucleotide variant NEK8-related disorder [RCV003414413] Chr17:28740615 [GRCh38]
Chr17:27067633 [GRCh37]
Chr17:17q11.2		 likely pathogenic
NM_178170.3(NEK8):c.1777T>C (p.Leu593=) single nucleotide variant not provided [RCV003419690] Chr17:28741122 [GRCh38]
Chr17:27068140 [GRCh37]
Chr17:17q11.2		 likely benign
NM_178170.3(NEK8):c.624G>A (p.Leu208=) single nucleotide variant Nephronophthisis 9 [RCV003601436] Chr17:28737311 [GRCh38]
Chr17:27064329 [GRCh37]
Chr17:17q11.2		 likely benign
NM_178170.3(NEK8):c.1223-20C>T single nucleotide variant Nephronophthisis 9 [RCV003600344] Chr17:28738651 [GRCh38]
Chr17:27065669 [GRCh37]
Chr17:17q11.2		 likely benign
NM_178170.3(NEK8):c.1893G>A (p.Glu631=) single nucleotide variant Nephronophthisis 9 [RCV003496436] Chr17:28741414 [GRCh38]
Chr17:27068432 [GRCh37]
Chr17:17q11.2		 likely benign
NM_178170.3(NEK8):c.1512C>T (p.Ile504=) single nucleotide variant Nephronophthisis 9 [RCV003496536] Chr17:28740557 [GRCh38]
Chr17:27067575 [GRCh37]
Chr17:17q11.2		 likely benign
NM_178170.3(NEK8):c.1418-2A>C single nucleotide variant Nephronophthisis 9 [RCV003602515] Chr17:28740461 [GRCh38]
Chr17:27067479 [GRCh37]
Chr17:17q11.2		 likely pathogenic
NM_178170.3(NEK8):c.286T>C (p.Cys96Arg) single nucleotide variant Nephronophthisis 9 [RCV003495541] Chr17:28734804 [GRCh38]
Chr17:27061822 [GRCh37]
Chr17:17q11.2		 likely benign
NM_178170.3(NEK8):c.1071+12del deletion Nephronophthisis 9 [RCV003601300] Chr17:28738012 [GRCh38]
Chr17:27065030 [GRCh37]
Chr17:17q11.2		 likely benign
NM_178170.3(NEK8):c.2050+20A>G single nucleotide variant Nephronophthisis 9 [RCV003496810] Chr17:28741591 [GRCh38]
Chr17:27068609 [GRCh37]
Chr17:17q11.2		 likely benign
NM_178170.3(NEK8):c.1653A>C (p.Thr551=) single nucleotide variant Nephronophthisis 9 [RCV003496800] Chr17:28740906 [GRCh38]
Chr17:27067924 [GRCh37]
Chr17:17q11.2		 likely benign
NM_178170.3(NEK8):c.1038C>T (p.Gly346=) single nucleotide variant Nephronophthisis 9 [RCV003600932] Chr17:28737967 [GRCh38]
Chr17:27064985 [GRCh37]
Chr17:17q11.2		 likely benign
NM_178170.3(NEK8):c.253+7C>T single nucleotide variant Nephronophthisis 9 [RCV003600213] Chr17:28734195 [GRCh38]
Chr17:27061213 [GRCh37]
Chr17:17q11.2		 likely benign
NM_178170.3(NEK8):c.254-12C>T single nucleotide variant Nephronophthisis 9 [RCV003600292] Chr17:28734760 [GRCh38]
Chr17:27061778 [GRCh37]
Chr17:17q11.2		 likely benign
NM_178170.3(NEK8):c.750C>T (p.Ser250=) single nucleotide variant Nephronophthisis 9 [RCV003878182] Chr17:28737437 [GRCh38]
Chr17:27064455 [GRCh37]
Chr17:17q11.2		 likely benign
NM_178170.3(NEK8):c.486+17G>T single nucleotide variant Nephronophthisis 9 [RCV003601202] Chr17:28735021 [GRCh38]
Chr17:27062039 [GRCh37]
Chr17:17q11.2		 likely benign
NM_178170.3(NEK8):c.602G>C (p.Arg201Thr) single nucleotide variant Nephronophthisis 9 [RCV003602192] Chr17:28735355 [GRCh38]
Chr17:27062373 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_178170.3(NEK8):c.57C>T (p.His19=) single nucleotide variant Nephronophthisis 9 [RCV003599985]|not provided [RCV004763752] Chr17:28733992 [GRCh38]
Chr17:27061010 [GRCh37]
Chr17:17q11.2		 likely benign|uncertain significance
NM_178170.3(NEK8):c.253+11C>T single nucleotide variant Nephronophthisis 9 [RCV003494811] Chr17:28734199 [GRCh38]
Chr17:27061217 [GRCh37]
Chr17:17q11.2		 likely benign
NM_178170.3(NEK8):c.1330G>T (p.Glu444Ter) single nucleotide variant Nephronophthisis 9 [RCV003600350] Chr17:28739114 [GRCh38]
Chr17:27066132 [GRCh37]
Chr17:17q11.2		 pathogenic
NM_178170.3(NEK8):c.2050+19C>G single nucleotide variant Nephronophthisis 9 [RCV003601076] Chr17:28741590 [GRCh38]
Chr17:27068608 [GRCh37]
Chr17:17q11.2		 likely benign
NM_178170.3(NEK8):c.912G>A (p.Arg304=) single nucleotide variant Nephronophthisis 9 [RCV003494810] Chr17:28737841 [GRCh38]
Chr17:27064859 [GRCh37]
Chr17:17q11.2		 likely benign
NM_178170.3(NEK8):c.828-4G>T single nucleotide variant Nephronophthisis 9 [RCV003494916] Chr17:28737671 [GRCh38]
Chr17:27064689 [GRCh37]
Chr17:17q11.2		 likely benign
NM_178170.3(NEK8):c.47+20G>T single nucleotide variant Nephronophthisis 9 [RCV003495799] Chr17:28728880 [GRCh38]
Chr17:27055898 [GRCh37]
Chr17:17q11.2		 likely benign
NM_178170.3(NEK8):c.1245C>T (p.Phe415=) single nucleotide variant Nephronophthisis 9 [RCV003495916] Chr17:28738693 [GRCh38]
Chr17:27065711 [GRCh37]
Chr17:17q11.2		 likely benign
NM_178170.3(NEK8):c.889+15G>A single nucleotide variant Nephronophthisis 9 [RCV003495025] Chr17:28737751 [GRCh38]
Chr17:27064769 [GRCh37]
Chr17:17q11.2		 likely benign
NM_178170.3(NEK8):c.487-9A>G single nucleotide variant Nephronophthisis 9 [RCV003494621] Chr17:28735231 [GRCh38]
Chr17:27062249 [GRCh37]
Chr17:17q11.2		 likely benign
NM_178170.3(NEK8):c.827+18G>A single nucleotide variant Nephronophthisis 9 [RCV003496427] Chr17:28737532 [GRCh38]
Chr17:27064550 [GRCh37]
Chr17:17q11.2		 likely benign
NM_178170.3(NEK8):c.313A>G (p.Ile105Val) single nucleotide variant Nephronophthisis 9 [RCV003838492] Chr17:28734831 [GRCh38]
Chr17:27061849 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_178170.3(NEK8):c.802G>A (p.Asp268Asn) single nucleotide variant Nephronophthisis 9 [RCV003860868] Chr17:28737489 [GRCh38]
Chr17:27064507 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_178170.3(NEK8):c.1368G>A (p.Leu456=) single nucleotide variant Nephronophthisis 9 [RCV003866586] Chr17:28739152 [GRCh38]
Chr17:27066170 [GRCh37]
Chr17:17q11.2		 likely benign
NM_178170.3(NEK8):c.1905C>T (p.Tyr635=) single nucleotide variant Nephronophthisis 9 [RCV003843169] Chr17:28741426 [GRCh38]
Chr17:27068444 [GRCh37]
Chr17:17q11.2		 likely benign
NM_178170.3(NEK8):c.1222+12G>A single nucleotide variant Nephronophthisis 9 [RCV003866666] Chr17:28738257 [GRCh38]
Chr17:27065275 [GRCh37]
Chr17:17q11.2		 likely benign
NM_178170.3(NEK8):c.890-20C>A single nucleotide variant Nephronophthisis 9 [RCV003860900] Chr17:28737799 [GRCh38]
Chr17:27064817 [GRCh37]
Chr17:17q11.2		 likely benign
NM_178170.3(NEK8):c.1902G>A (p.Val634=) single nucleotide variant NEK8-related disorder [RCV003969806] Chr17:28741423 [GRCh38]
Chr17:27068441 [GRCh37]
Chr17:17q11.2		 likely benign
NM_178170.3(NEK8):c.91A>G (p.Ile31Val) single nucleotide variant Renal-hepatic-pancreatic dysplasia 2 [RCV004555495] Chr17:28734026 [GRCh38]
Chr17:27061044 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_178170.3(NEK8):c.1222+10C>T single nucleotide variant NEK8-related disorder [RCV003961631] Chr17:28738255 [GRCh38]
Chr17:27065273 [GRCh37]
Chr17:17q11.2		 likely benign
NM_178170.3(NEK8):c.1071+1G>A single nucleotide variant NEK8-related disorder [RCV004755189] Chr17:28738001 [GRCh38]
Chr17:27065019 [GRCh37]
Chr17:17q11.2		 likely pathogenic
NM_178170.3(NEK8):c.142G>C (p.Ala48Pro) single nucleotide variant Renal-hepatic-pancreatic dysplasia 2 [RCV003991156] Chr17:28734077 [GRCh38]
Chr17:27061095 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_178170.3(NEK8):c.44T>C (p.Phe15Ser) single nucleotide variant Inborn genetic diseases [RCV004481355] Chr17:28728857 [GRCh38]
Chr17:27055875 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_178170.3(NEK8):c.196T>G (p.Tyr66Asp) single nucleotide variant Inborn genetic diseases [RCV004481322] Chr17:28734131 [GRCh38]
Chr17:27061149 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_178170.3(NEK8):c.131A>T (p.Glu44Val) single nucleotide variant Inborn genetic diseases [RCV004481282] Chr17:28734066 [GRCh38]
Chr17:27061084 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_178170.3(NEK8):c.1619C>T (p.Pro540Leu) single nucleotide variant Inborn genetic diseases [RCV004481296] Chr17:28740872 [GRCh38]
Chr17:27067890 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_178170.3(NEK8):c.1627C>G (p.Gln543Glu) single nucleotide variant Inborn genetic diseases [RCV004481299] Chr17:28740880 [GRCh38]
Chr17:27067898 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_178170.3(NEK8):c.676C>T (p.Arg226Trp) single nucleotide variant Inborn genetic diseases [RCV004481364] Chr17:28737363 [GRCh38]
Chr17:27064381 [GRCh37]
Chr17:17q11.2		 uncertain significance
NEK8, ARG45TRP single nucleotide variant Polycystic kidney disease 8 [RCV004597559]   pathogenic
NM_178170.3(NEK8):c.423G>A (p.Met141Ile) single nucleotide variant Inborn genetic diseases [RCV004641497] Chr17:28734941 [GRCh38]
Chr17:27061959 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_178170.3(NEK8):c.2065C>T (p.Pro689Ser) single nucleotide variant Inborn genetic diseases [RCV004654752] Chr17:28741973 [GRCh38]
Chr17:27068991 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_178170.3(NEK8):c.1601T>C (p.Leu534Pro) single nucleotide variant Inborn genetic diseases [RCV004654753] Chr17:28740854 [GRCh38]
Chr17:27067872 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_178170.3(NEK8):c.2036T>C (p.Leu679Pro) single nucleotide variant not provided [RCV004725835] Chr17:28741557 [GRCh38]
Chr17:27068575 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_178170.3(NEK8):c.211del (p.Leu71fs) deletion not provided [RCV004769501] Chr17:28734145 [GRCh38]
Chr17:27061163 [GRCh37]
Chr17:17q11.2		 likely pathogenic
NM_178170.3(NEK8):c.34A>G (p.Arg12Gly) single nucleotide variant not provided [RCV004769304] Chr17:28728847 [GRCh38]
Chr17:27055865 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_178170.3(NEK8):c.1217T>C (p.Leu406Pro) single nucleotide variant NEK8-related disorder [RCV004731967] Chr17:28738240 [GRCh38]
Chr17:27065258 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_178170.3(NEK8):c.1114del (p.Ala372fs) deletion NEK8-related disorder [RCV004731841] Chr17:28738134 [GRCh38]
Chr17:27065152 [GRCh37]
Chr17:17q11.2		 likely pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2872
Count of miRNA genes:899
Interacting mature miRNAs:1088
Transcripts:ENST00000268766, ENST00000543014, ENST00000579060, ENST00000579671, ENST00000581000, ENST00000584342, ENST00000592510, ENST00000593261
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1298406BP16_HBlood pressure QTL 16 (human)0.0004Blood pressurehypertension susceptibility171477864740778647Human
406964852GWAS613828_Hreticulocyte count QTL GWAS613828 (human)2e-10reticulocyte counttotal reticulocyte count (CMO:0003020)172873264828732649Human
597240096GWAS1336170_Hanxiety QTL GWAS1336170 (human)9e-09anxiety172873703428737035Human
597169314GWAS1265388_HVaricose veins QTL GWAS1265388 (human)2e-09Varicose veins172873798428737985Human
597096124GWAS1192198_Hreticulocyte measurement QTL GWAS1192198 (human)2e-13reticulocyte morphology trait (VT:0002424)red blood cell measurement (CMO:0001356)172874237528742376Human

Markers in Region
D8S2279  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map21q22.12UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map15q22.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map17q24.2UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map12q24.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map5q14UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map7q21.11UniSTS
Cytogenetic Map9q34.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map6p21.1-p12UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map7p21.3UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map1q12UniSTS
Cytogenetic Map8p23UniSTS
Cytogenetic Map11q13.2-q13.3UniSTS
Cytogenetic Map13q14.1-q14.3UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map3q13.1-q13.2UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map17p13.1-p12UniSTS
Cytogenetic Map18q21.33UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map17p12-p11.2UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map2q32UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map14q31-q32UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map1q23.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map4q32.2UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map5q14.2UniSTS
Cytogenetic Map4q32.1UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map22q12.3UniSTS
Cytogenetic Map20q11UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map1p35.2UniSTS
Cytogenetic MapYp11.2UniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map18q12UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map3q27.2UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map1q42UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map17q21.2-q21.3UniSTS
Cytogenetic Map5q32-q34UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map3q21.2UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map10p12UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map8p22-p21UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map12q21.33UniSTS
Cytogenetic Map20q13.32UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map7q31.1UniSTS
Cytogenetic Map1p33UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map3q25UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map22q13.31-q13.33UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map7q32.2UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map14q31-q32.1UniSTS
Cytogenetic Map1q42.11UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map2q11.2-q12.1UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map2q14UniSTS
Cytogenetic Map20p11.23-p11.21UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map9q21.32UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map20q12UniSTS
Cytogenetic Map4q21.23UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map2q21.3UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map12q24.11UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map10q11.1UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map19q12UniSTS
Cytogenetic Map7q34-q35UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map6p25.1-p23UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map18q12.1-q21.1UniSTS
Cytogenetic Map12p13.1UniSTS
Cytogenetic Map13q12.1UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map6p21.32UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map12p13.1-p12.3UniSTS
Cytogenetic Map3p25.2UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map3p21.2UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic MapXp21.2UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map9q21.12UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map7q33UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map4q21.22UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map2q24.3UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map6q25UniSTS
Cytogenetic Map6p21UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map12p13-p12UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map6p22UniSTS
Cytogenetic Map2q12.1UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map1p36UniSTS
Cytogenetic Map9q13-q21UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic MapXp11.2UniSTS
Cytogenetic Map19pUniSTS
Cytogenetic Map19p13.1-p12UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map8q24UniSTS
Cytogenetic Map18p11.31-p11.21UniSTS
Cytogenetic Map11p15.3-p15.1UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map8q22UniSTS
Cytogenetic Map4p15.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map2p16.3UniSTS
Cytogenetic Map16p13.12UniSTS
Cytogenetic Map7p21.2UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map6q24.3UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map5q23.1UniSTS
Cytogenetic Map10q23.2UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map6q22.1UniSTS
Cytogenetic Map1q42.1UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map15q22.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map3p21-p12UniSTS
Cytogenetic Map4q35UniSTS
Cytogenetic Map1p34-p33UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map3p22-p21.33UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map3q22.1UniSTS
Cytogenetic Map8q21.11UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map7p14UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map9q22UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map20q11.2-q13.2UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map17q24UniSTS
Cytogenetic Map3q25.31UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map2q31.3UniSTS
Cytogenetic Map1q31UniSTS
Cytogenetic Map7q32-q33UniSTS
Cytogenetic Map7q21.1UniSTS
Cytogenetic Map14q23-q24.2UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map2p24-p21UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map12p11UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map1p12UniSTS
Cytogenetic Map13q32.3UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map20q13UniSTS
Cytogenetic Map17q25.2UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map10p12.33UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic MapXp11.22UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic MapXq25-q26UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map5p13UniSTS
Cytogenetic Map15q25UniSTS
Cytogenetic Map5q12.1UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map3q26.31UniSTS
Cytogenetic Map17q22-q23UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map3q26.2-q27UniSTS
Cytogenetic Map1q25.1-q25.2UniSTS
Cytogenetic Map14q24UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic Map5q21.3UniSTS
Cytogenetic Map5p13.3UniSTS
Cytogenetic Map10q22.1UniSTS
Cytogenetic Map14q12-q13UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic MapXq23UniSTS
Cytogenetic Map20p12.3-p11.21UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map17q11.2-q12UniSTS
Cytogenetic Map4q32-q34UniSTS
Cytogenetic MapXq25-q26.1UniSTS
Cytogenetic Map2p25-p24UniSTS
Cytogenetic Map2p25UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic MapXp22.2-p22.1UniSTS
Cytogenetic MapXq22.1UniSTS
Cytogenetic Map4q25UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map20q11.22-q12UniSTS
Cytogenetic Map4q34.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map22q13.1-q13.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map12q13-q14UniSTS
Cytogenetic Map6q14.1UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map9q31.2UniSTS
Cytogenetic Map11q13.1-q13.2UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map21q21.2UniSTS
Cytogenetic Map10q24.3UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map8q21.1UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map1q32.2UniSTS
Cytogenetic Map4q21.3UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map2q36.3UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map11q22.1UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map10q23.31UniSTS
Cytogenetic Map4p15.32UniSTS
Cytogenetic Map18q12.2UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map12q14.1UniSTS
Cytogenetic Map6p22.3-p22.1UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map6q15UniSTS
Cytogenetic Map6q23.3UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map5q35.2UniSTS
Cytogenetic Map10q22.3UniSTS
Cytogenetic Map1p35UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map8q23.1UniSTS
Cytogenetic Map6q27UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic MapXp11UniSTS
Cytogenetic Map11p15.3UniSTS
Cytogenetic Map20p12UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic MapXp22.3UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map19p13.3-p13.2UniSTS
Cytogenetic Map1p36.11-p34.2UniSTS
Cytogenetic Map4q22.1-q23UniSTS
Cytogenetic Map7q22.3UniSTS
Cytogenetic Map9p22UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map2p22.3UniSTS
Cytogenetic MapXq26.1UniSTS
Cytogenetic Map4q21.21UniSTS
Cytogenetic Map22q13.3UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic MapYp11.32UniSTS
Cytogenetic Map11p14UniSTS
Cytogenetic Map1p32.1UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map4q34.3UniSTS
Cytogenetic Map9p12UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map11q23.2UniSTS
Cytogenetic Map20p11.23UniSTS
Cytogenetic Map3p13UniSTS
Cytogenetic Map4p13UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map15q22-q24UniSTS
Cytogenetic Map8q23UniSTS
Cytogenetic Map16q12.1UniSTS
Cytogenetic Map14q13.2UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map5q31.3UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic Map13q33.1UniSTS
Cytogenetic Map14q21.2UniSTS
Cytogenetic Map4q31.3UniSTS
Cytogenetic Map15q21-q22UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic Map1q24.2UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map15q22.1-q22.31UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic MapXq13UniSTS
Cytogenetic Map1q31-q41UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map14q32.1UniSTS
Cytogenetic Map16q12-q13UniSTS
Cytogenetic MapXq12-q13UniSTS
Cytogenetic Map14q23UniSTS
Cytogenetic Map12q11-q12UniSTS
Cytogenetic Map1q42.1-q43UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map12q24UniSTS
Cytogenetic MapXp22.11UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map8q24.21UniSTS
Cytogenetic Map12q13.1UniSTS
Cytogenetic Map12q22-q23.1UniSTS
Cytogenetic Map11q12.2UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map5q31.2-q34UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map6q24.2UniSTS
Cytogenetic Map22qUniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map7p11UniSTS
Cytogenetic MapXp22.12-p22.11UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map8q24.22UniSTS
Cytogenetic Map8p22-p21.3UniSTS
Cytogenetic Map10q24UniSTS
Cytogenetic Map1q21.2-q21.3UniSTS
Cytogenetic Map1p36.12UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map6q25.2-q27UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic Map3q28-q29UniSTS
Cytogenetic Map7p14-p13UniSTS
Cytogenetic Map12q24.2UniSTS
Cytogenetic Map6p22.2UniSTS
Cytogenetic Map7q22-qterUniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic Map1q32.2-q41UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map12q23-q24.1UniSTS
Cytogenetic Map5p15.1-p14.3UniSTS
Cytogenetic Map16p13.11UniSTS
Cytogenetic Map6q22-q23UniSTS
Cytogenetic Map9p21UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map3p12.1UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map14q21UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map13q12-q14UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map2q24UniSTS
Cytogenetic Map12p13UniSTS
Cytogenetic Map3q28UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic MapXq22.2UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map7p15.1UniSTS
Cytogenetic Map2q37.2UniSTS
Cytogenetic Map18q22.3UniSTS
Cytogenetic Map14q32.13UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map16p13.1UniSTS
Cytogenetic Map7q31.3UniSTS
Cytogenetic Map20q13.2-q13.3UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map9q21.33UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map13q13.3UniSTS
Cytogenetic Map10p12.31UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map5q33.2UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map8q21.2UniSTS
Cytogenetic Map2q24.1UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map2q23.3UniSTS
Cytogenetic Map19p13.1UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map14q31UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map8p12-p11UniSTS
Cytogenetic Map18p11.2UniSTS
Cytogenetic Map7p11.1UniSTS
Cytogenetic Map1q31-q32UniSTS
Cytogenetic Map2q12UniSTS
Cytogenetic Map3p21.32UniSTS
Cytogenetic Map2p24.2UniSTS
Cytogenetic Map2q33-q34UniSTS
Cytogenetic Map6q24.1UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map15q13.3UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map10q23.33UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic Map7p13-p12UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map17q11-q21UniSTS
Cytogenetic Map12q23UniSTS
Cytogenetic Map6p24-p22.3UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map7q31.1-q31.2UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map3p26.1-p25.1UniSTS
Cytogenetic Map5q35UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map6q16.3UniSTS
Cytogenetic Map17q24-q25UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic MapXq27.1UniSTS
Cytogenetic Map8q12.3UniSTS
Cytogenetic Map5q21.2UniSTS
Cytogenetic Map5q15UniSTS
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map4q35.2UniSTS
Cytogenetic Map3p26.1UniSTS
Cytogenetic Map3p11.1UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map2q21.2UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map18q12.3UniSTS
Cytogenetic Map18p11.3UniSTS
Cytogenetic Map17q11.1UniSTS
Cytogenetic Map15q25.1UniSTS
Cytogenetic Map13q12.3UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map12q12-q13UniSTS
Cytogenetic Map12q14UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map2q32-q34UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic Map2p15-p13UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map19q13.33-q13.41UniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map6q23-q24UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map2p13UniSTS
Cytogenetic Map13q11-q12UniSTS
Cytogenetic Map6p12.3-p11.2UniSTS
Cytogenetic Map6q16.1-q16.3UniSTS
Cytogenetic Map22q11UniSTS
Cytogenetic Map7q31.2UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map3q25.2UniSTS
Cytogenetic Map3p21.1-p14.3UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map3q23-q24UniSTS
Cytogenetic Map3q12UniSTS
Cytogenetic Map7q11.1UniSTS
Cytogenetic Map3q22.3UniSTS
Cytogenetic Map7q21.3UniSTS
Cytogenetic Map4q31.1UniSTS
Cytogenetic Map22q12-q13UniSTS
Cytogenetic Map4q23UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map18q21.3UniSTS
Cytogenetic Map9q33.2UniSTS
Cytogenetic Map11q21UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map4q28-q32UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map8p11UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map1q24.3UniSTS
Cytogenetic Map9q33.1UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map2p16.2UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map1p36.2UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map16p12UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map4q21UniSTS
Cytogenetic Map13q12.2UniSTS
Cytogenetic Map9q31-q33UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map1q23UniSTS
Cytogenetic Map11q12-q13UniSTS
Cytogenetic Map11q13.3UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map11q12.1UniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map8p21UniSTS
Cytogenetic Map19q13.1-q13.2UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map7q36.2UniSTS
Cytogenetic Map4q32.3UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map10q26.1UniSTS
Cytogenetic Map9q32-q33.3UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map3q26.1-q26.2UniSTS
Cytogenetic Map5q31-q34UniSTS
Cytogenetic Map9q33-q34UniSTS
Cytogenetic Map5q11.2-q13.2UniSTS
Cytogenetic Map13q32UniSTS
Cytogenetic Map9q22.32UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map5q22UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic MapXq13.3UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map3p26.3UniSTS
Cytogenetic Map2q11.1UniSTS
Cytogenetic Map21q11.2UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map12q24.23UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map2q31.1-q31.2UniSTS
Cytogenetic MapXp22.31UniSTS
Cytogenetic MapXp21.3UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map4q28.2UniSTS
Cytogenetic Map3p14.2UniSTS
Cytogenetic Map3q24UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map20q13.2UniSTS
Cytogenetic Map14q11.2-q12UniSTS
Cytogenetic Map3p24UniSTS
Cytogenetic Map12q23.3UniSTS
Cytogenetic Map11q24.3UniSTS
Cytogenetic Map11q14.3UniSTS
Cytogenetic Map10q25.2UniSTS
Cytogenetic Map3q25.1UniSTS
Cytogenetic Map8q13UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map3p22.3UniSTS
Cytogenetic Map18q11.1UniSTS
Cytogenetic Map8q23.3UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map11cen-q12UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map12q21UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map7q22-q31UniSTS
Cytogenetic Map11q22UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map20q13.3-qterUniSTS
Cytogenetic Map1p35-p34UniSTS
Cytogenetic Map4p13-p12UniSTS
Cytogenetic Map10q21-q22UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map7p13-p11.1UniSTS
Cytogenetic Map9q31-q34UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic MapXp22.13UniSTS
Cytogenetic Map13q12.12UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map1pUniSTS
Cytogenetic Map16pUniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map2qUniSTS
Cytogenetic Map5q13.1UniSTS
Cytogenetic Map11p14.1UniSTS
Cytogenetic Map4q32UniSTS
Cytogenetic Map2p22UniSTS
Cytogenetic Map5q14.3UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map5q23.2UniSTS
Cytogenetic Map2p24.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map9p21.1UniSTS
Cytogenetic Map9q34.2-q34.3UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
1204 2435 2787 2250 4969 1726 2351 5 624 1951 465 2269 7293 6464 53 3731 1 851 1742 1616 172

Sequence


Ensembl Acc Id: ENST00000268766   ⟹   ENSP00000268766
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1728,728,788 - 28,743,455 (+)Ensembl
Ensembl Acc Id: ENST00000543014   ⟹   ENSP00000465859
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1728,728,804 - 28,742,429 (+)Ensembl
Ensembl Acc Id: ENST00000579060   ⟹   ENSP00000466896
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1728,725,928 - 28,735,371 (+)Ensembl
Ensembl Acc Id: ENST00000579671   ⟹   ENSP00000467335
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1728,725,897 - 28,735,367 (+)Ensembl
Ensembl Acc Id: ENST00000581000
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1728,728,814 - 28,734,525 (+)Ensembl
Ensembl Acc Id: ENST00000584342
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1728,725,920 - 28,735,309 (+)Ensembl
Ensembl Acc Id: ENST00000592510   ⟹   ENSP00000466476
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1728,735,278 - 28,738,245 (+)Ensembl
Ensembl Acc Id: ENST00000593261
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1728,728,816 - 28,735,352 (+)Ensembl
RefSeq Acc Id: NM_178170   ⟹   NP_835464
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381728,728,788 - 28,743,455 (+)NCBI
GRCh371727,055,822 - 27,069,784 (+)NCBI
Build 361724,079,959 - 24,093,911 (+)NCBI Archive
Celera1723,914,995 - 23,928,979 (+)RGD
HuRef1723,264,730 - 23,278,592 (+)ENTREZGENE
CHM1_11727,118,302 - 27,132,262 (+)NCBI
T2T-CHM13v2.01729,671,595 - 29,686,240 (+)NCBI
Sequence:
RefSeq Acc Id: NP_835464   ⟸   NM_178170
- UniProtKB: Q8NDH1 (UniProtKB/Swiss-Prot),   Q86SG6 (UniProtKB/Swiss-Prot),   Q2M1S6 (UniProtKB/Swiss-Prot),   Q14CL7 (UniProtKB/Swiss-Prot),   A6NIC5 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000465859   ⟸   ENST00000543014
Ensembl Acc Id: ENSP00000268766   ⟸   ENST00000268766
Ensembl Acc Id: ENSP00000467335   ⟸   ENST00000579671
Ensembl Acc Id: ENSP00000466896   ⟸   ENST00000579060
Ensembl Acc Id: ENSP00000466476   ⟸   ENST00000592510
Protein Domains
Protein kinase

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q86SG6-F1-model_v2 AlphaFold Q86SG6 1-692 view protein structure

Promoters
RGD ID:7234437
Promoter ID:EPDNEW_H22964
Type:initiation region
Name:NEK8_2
Description:NIMA related kinase 8
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H22967  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381728,725,888 - 28,725,948EPDNEW
RGD ID:7234443
Promoter ID:EPDNEW_H22967
Type:initiation region
Name:NEK8_1
Description:NIMA related kinase 8
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H22964  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381728,728,790 - 28,728,850EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:13387 AgrOrtholog
COSMIC NEK8 COSMIC
Ensembl Genes ENSG00000160602 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000268766 ENTREZGENE
  ENST00000268766.11 UniProtKB/Swiss-Prot
  ENST00000543014.1 UniProtKB/TrEMBL
  ENST00000579060.5 UniProtKB/TrEMBL
  ENST00000579671.5 UniProtKB/TrEMBL
  ENST00000592510.1 UniProtKB/TrEMBL
Gene3D-CATH 2.130.10.30 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Phosphorylase Kinase, domain 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Transferase(Phosphotransferase) domain 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000160602 GTEx
HGNC ID HGNC:13387 ENTREZGENE
Human Proteome Map NEK8 Human Proteome Map
InterPro Kinase-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Prot_kinase_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Protein_kinase_ATP_BS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RCC1/BLIP-II UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Reg_chr_condens UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ser/Thr_kinase_AS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  STK_NEK UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  STKc_Nek8 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:284086 UniProtKB/Swiss-Prot
NCBI Gene NEK8 ENTREZGENE
OMIM 609799 OMIM
PANTHER PROTEIN CBG16200 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SERINE/THREONINE-PROTEIN KINASE NEK8 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Pkinase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RCC1 UniProtKB/Swiss-Prot
PharmGKB PA38361 PharmGKB
PRINTS RCCNDNSATION UniProtKB/Swiss-Prot
PROSITE PROTEIN_KINASE_ATP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PROTEIN_KINASE_DOM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PROTEIN_KINASE_ST UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RCC1_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART S_TKc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF50985 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF56112 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A6NIC5 ENTREZGENE
  K7EL04_HUMAN UniProtKB/TrEMBL
  K7EMF0_HUMAN UniProtKB/TrEMBL
  K7END4_HUMAN UniProtKB/TrEMBL
  K7EPD3_HUMAN UniProtKB/TrEMBL
  NEK8_HUMAN UniProtKB/Swiss-Prot
  Q14CL7 ENTREZGENE
  Q2M1S6 ENTREZGENE
  Q86SG6 ENTREZGENE
  Q8NDH1 ENTREZGENE
UniProt Secondary A6NIC5 UniProtKB/Swiss-Prot
  Q14CL7 UniProtKB/Swiss-Prot
  Q2M1S6 UniProtKB/Swiss-Prot
  Q8NDH1 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-01-19 NEK8  NIMA related kinase 8  NEK8  NIMA-related kinase 8  Symbol and/or name change 5135510 APPROVED
2012-11-20 NEK8  NIMA-related kinase 8  NEK8  NIMA (never in mitosis gene a)- related kinase 8  Symbol and/or name change 5135510 APPROVED