WDR11 (WD repeat domain 11) - Rat Genome Database

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Gene: WDR11 (WD repeat domain 11) Homo sapiens
Analyze
Symbol: WDR11
Name: WD repeat domain 11
RGD ID: 1318273
HGNC Page HGNC:13831
Description: Involved in intracellular protein transport and vesicle tethering to Golgi. Located in several cellular components, including ciliary basal body; cytosol; and trans-Golgi network. Implicated in autosomal recessive intellectual developmental disorder and hypogonadotropic hypogonadism 14 with or without anosmia.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: bromodomain and WD repeat domain containing 2; bromodomain and WD repeat-containing protein 2; BRWD2; DKFZp434L1715; DR11; FLJ42531; HH14; sensitization to ricin complex subunit 1; SRI1; WD repeat domain 15; WD repeat-containing protein 11; WD repeat-containing protein 15; WD40 repeat domain 11 protein; WDR15
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
GRCh3810120,851,362 - 120,909,524 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl10120,851,305 - 120,909,524 (+)EnsemblGRCh38hg38GRCh38
GRCh3710122,610,874 - 122,669,036 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3610122,600,685 - 122,659,026 (+)NCBINCBI36Build 36hg18NCBI36
Build 3410122,600,684 - 122,659,026NCBI
Celera10116,342,868 - 116,401,238 (+)NCBICelera
Cytogenetic Map10q26.12NCBI
HuRef10116,240,087 - 116,298,453 (+)NCBIHuRef
CHM1_110122,895,777 - 122,954,121 (+)NCBICHM1_1
T2T-CHM13v2.010121,747,910 - 121,806,084 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal cardiovascular system morphology  (IAGP)
Abnormal morphology of female internal genitalia  (IAGP)
Abnormality of body height  (IAGP)
Abnormality of the dentition  (IAGP)
Abnormality of the hypothalamus-pituitary axis  (IAGP)
Abnormality of the sense of smell  (IAGP)
Abnormality of the voice  (IAGP)
Absence of pubertal development  (IAGP)
Absence of secondary sex characteristics  (IAGP)
Adrenal hypoplasia  (IAGP)
Amenorrhea  (IAGP)
Anosmia  (IAGP)
Anterior hypopituitarism  (IAGP)
Anxiety  (IAGP)
Asthma  (IAGP)
Ataxia  (IAGP)
Autosomal dominant inheritance  (IAGP)
Autosomal recessive inheritance  (IAGP)
Azoospermia  (IAGP)
Bimanual synkinesia  (IAGP)
Brachydactyly  (IAGP)
Breast hypoplasia  (IAGP)
Camptodactyly  (IAGP)
Cleft palate  (IAGP)
Clinodactyly of the 5th finger  (IAGP)
Color vision defect  (IAGP)
Congenital sensorineural hearing impairment  (IAGP)
Cryptorchidism  (IAGP)
Cubitus valgus  (IAGP)
Death in infancy  (IAGP)
Decreased fertility  (IAGP)
Decreased serum testosterone concentration  (IAGP)
Decreased testicular size  (IAGP)
Delayed puberty  (IAGP)
Delayed skeletal maturation  (IAGP)
Depressed nasal bridge  (IAGP)
Depression  (IAGP)
Diabetes insipidus  (IAGP)
Dysarthria  (IAGP)
Dyspareunia  (IAGP)
Ectopic posterior pituitary  (IAGP)
Erectile dysfunction  (IAGP)
Eunuchoid habitus  (IAGP)
Exotropia  (IAGP)
Failure to thrive  (IAGP)
Febrile seizure (within the age range of 3 months to 6 years)  (IAGP)
Female hypogonadism  (IAGP)
Gait disturbance  (IAGP)
Generalized joint hypermobility  (IAGP)
Global developmental delay  (IAGP)
Gynecomastia  (IAGP)
High palate  (IAGP)
Hypertelorism  (IAGP)
Hypoglycemia  (IAGP)
Hypogonadotropic hypogonadism  (IAGP)
Hypopigmentation of the skin  (IAGP)
Hypoplasia of penis  (IAGP)
Hypoplasia of the ovary  (IAGP)
Hypoplasia of the uterus  (IAGP)
Hyposmia  (IAGP)
Hypothalamic gonadotropin-releasing hormone deficiency  (IAGP)
Hypothyroidism  (IAGP)
Hypotonia  (IAGP)
Ichthyosis  (IAGP)
Impotence  (IAGP)
Increased female libido  (IAGP)
Infertility  (IAGP)
Intellectual disability  (IAGP)
Intellectual disability, mild  (IAGP)
Intellectual disability, severe  (IAGP)
Juvenile onset  (IAGP)
Kyphoscoliosis  (IAGP)
Male hypogonadism  (IAGP)
Microcephaly  (IAGP)
Micropenis  (IAGP)
Microretrognathia  (IAGP)
Muscle weakness  (IAGP)
Narrow chest  (IAGP)
Non-obstructive azoospermia  (IAGP)
Nystagmus  (IAGP)
Obesity  (IAGP)
Optic neuropathy  (IAGP)
Osteopenia  (IAGP)
Osteoporosis  (IAGP)
Paraplegia  (IAGP)
Pectus excavatum  (IAGP)
Pes cavus  (IAGP)
Pes planus  (IAGP)
Phenotypic abnormality  (IAGP)
Primary amenorrhea  (IAGP)
Ptosis  (IAGP)
Recurrent fractures  (IAGP)
Reduced bone mineral density  (IAGP)
Renal agenesis  (IAGP)
Retrognathia  (IAGP)
Secondary amenorrhea  (IAGP)
Seizure  (IAGP)
Sensorineural hearing impairment  (IAGP)
Septo-optic dysplasia  (IAGP)
Short stature  (IAGP)
Skeletal dysplasia  (IAGP)
Sparse axillary hair  (IAGP)
Sparse body hair  (IAGP)
Sparse pubic hair  (IAGP)
Strabismus  (IAGP)
Tooth agenesis  (IAGP)
Tremor  (IAGP)
Visual impairment  (IAGP)
Wide intermamillary distance  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
5. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:10718198   PMID:11536051   PMID:12477932   PMID:12684685   PMID:12684693   PMID:14702039   PMID:15164054   PMID:15489334   PMID:16385451   PMID:17897319   PMID:18775313   PMID:19946888  
PMID:20301509   PMID:20562859   PMID:20887964   PMID:21822266   PMID:21873635   PMID:22589738   PMID:23022380   PMID:23251661   PMID:23394947   PMID:24105470   PMID:25515538   PMID:25921289  
PMID:26178983   PMID:26186194   PMID:26344197   PMID:26389662   PMID:26638075   PMID:27025967   PMID:27432908   PMID:27880917   PMID:28453858   PMID:28514442   PMID:28611215   PMID:28718761  
PMID:29084197   PMID:29229926   PMID:29263200   PMID:29426865   PMID:29467282   PMID:29509190   PMID:29568061   PMID:29802200   PMID:29961565   PMID:30462309   PMID:31091453   PMID:31519766  
PMID:31527615   PMID:31623628   PMID:31871319   PMID:32129710   PMID:32807901   PMID:33060197   PMID:33306668   PMID:33660365   PMID:33742100   PMID:33957083   PMID:33961781   PMID:34079125  
PMID:34369648   PMID:34413497   PMID:34597346   PMID:34709727   PMID:34882091   PMID:35241646   PMID:35271311   PMID:35516420   PMID:35563538   PMID:35831314   PMID:35844135   PMID:35944360  
PMID:36168628   PMID:36215168   PMID:36526897   PMID:36538041   PMID:37308106   PMID:37317656   PMID:37774976   PMID:37827155   PMID:38113892   PMID:38270169   PMID:38569033   PMID:38777146  


Genomics

Comparative Map Data
WDR11
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3810120,851,362 - 120,909,524 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl10120,851,305 - 120,909,524 (+)EnsemblGRCh38hg38GRCh38
GRCh3710122,610,874 - 122,669,036 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3610122,600,685 - 122,659,026 (+)NCBINCBI36Build 36hg18NCBI36
Build 3410122,600,684 - 122,659,026NCBI
Celera10116,342,868 - 116,401,238 (+)NCBICelera
Cytogenetic Map10q26.12NCBI
HuRef10116,240,087 - 116,298,453 (+)NCBIHuRef
CHM1_110122,895,777 - 122,954,121 (+)NCBICHM1_1
T2T-CHM13v2.010121,747,910 - 121,806,084 (+)NCBIT2T-CHM13v2.0
Wdr11
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm397129,193,373 - 129,237,462 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl7129,193,587 - 129,237,462 (+)EnsemblGRCm39 Ensembl
GRCm387129,591,694 - 129,635,738 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl7129,591,863 - 129,635,738 (+)EnsemblGRCm38mm10GRCm38
MGSCv377136,735,377 - 136,779,252 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv367129,383,077 - 129,426,884 (+)NCBIMGSCv36mm8
Celera7129,409,372 - 129,458,017 (+)NCBICelera
Cytogenetic Map7F3NCBI
cM Map772.37NCBI
Wdr11
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81193,595,606 - 193,641,149 (+)NCBIGRCr8
mRatBN7.21184,165,260 - 184,210,834 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1184,165,571 - 184,210,846 (+)EnsemblmRatBN7.2 Ensembl
Rnor_6.01202,770,810 - 202,816,336 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1202,770,775 - 202,816,334 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01209,788,241 - 209,833,599 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41188,850,660 - 188,895,846 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11189,035,474 - 189,042,181 (+)NCBI
Celera1181,795,233 - 181,840,770 (+)NCBICelera
Cytogenetic Map1q37NCBI
Wdr11
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555511,733,004 - 1,788,438 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049555511,733,079 - 1,788,354 (+)NCBIChiLan1.0ChiLan1.0
WDR11
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v28132,711,956 - 132,774,854 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan110132,722,273 - 132,780,208 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v010117,430,788 - 117,488,778 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.110120,845,695 - 120,903,540 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl10120,845,695 - 120,903,540 (+)Ensemblpanpan1.1panPan2
WDR11
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12830,769,223 - 30,828,628 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2830,769,219 - 30,828,049 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2830,908,883 - 30,968,283 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02831,302,837 - 31,362,289 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2831,302,842 - 31,362,291 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12830,841,061 - 30,900,492 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02830,861,923 - 30,921,288 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02831,060,657 - 31,120,267 (+)NCBIUU_Cfam_GSD_1.0
Wdr11
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440721315,499,660 - 15,553,580 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493648610,007,715 - 10,064,327 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493648610,007,728 - 10,061,640 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
WDR11
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl14130,511,592 - 130,674,774 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.114130,618,924 - 130,674,536 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.214142,235,173 - 142,290,898 (+)NCBISscrofa10.2Sscrofa10.2susScr3
WDR11
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.19113,631,153 - 113,687,575 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl9113,631,401 - 113,687,574 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604874,918,972 - 74,975,372 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Wdr11
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462473725,763,023 - 25,818,199 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462473725,762,289 - 25,818,161 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in WDR11
345 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_018117.12(WDR11):c.1060A>G (p.Lys354Glu) single nucleotide variant not provided [RCV000520399] Chr10:120866634 [GRCh38]
Chr10:122626146 [GRCh37]
Chr10:10q26.12
uncertain significance
NM_018117.12:c.3450T>G single nucleotide variant Hypogonadotropic hypogonadism 14 with or without anosmia [RCV000030848] Chr10:10q26 pathogenic
NM_018117.12(WDR11):c.2070T>A (p.His690Gln) single nucleotide variant Hypogonadotropic hypogonadism 14 with anosmia [RCV000030850] Chr10:10q26 pathogenic
NM_018117.12(WDR11):c.3027+181T>C single nucleotide variant not provided [RCV001544759] Chr10:120904323 [GRCh38]
Chr10:122663835 [GRCh37]
Chr10:10q26.12
likely benign
NM_018117.12(WDR11):c.1303G>A (p.Ala435Thr) single nucleotide variant Hypogonadotropic hypogonadism 14 with or without anosmia [RCV000030849]|not provided [RCV000059797] Chr10:120871178 [GRCh38]
Chr10:122630690 [GRCh37]
Chr10:10q26.12
pathogenic|uncertain significance|not provided
GRCh38/hg38 10q26.11-26.13(chr10:119273012-123117390)x3 copy number gain See cases [RCV000050701] Chr10:119273012..123117390 [GRCh38]
Chr10:121032524..124876906 [GRCh37]
Chr10:121022514..124866896 [NCBI36]
Chr10:10q26.11-26.13
pathogenic
GRCh38/hg38 10q25.2-26.3(chr10:111313099-133620674)x3 copy number gain See cases [RCV000051218] Chr10:111313099..133620674 [GRCh38]
Chr10:113072857..135434178 [GRCh37]
Chr10:113062847..135284168 [NCBI36]
Chr10:10q25.2-26.3
pathogenic
GRCh38/hg38 10q26.12-26.3(chr10:120454430-133620674)x1 copy number loss See cases [RCV000051103] Chr10:120454430..133620674 [GRCh38]
Chr10:122213942..135434178 [GRCh37]
Chr10:122203932..135284168 [NCBI36]
Chr10:10q26.12-26.3
pathogenic
GRCh38/hg38 10q23.31-26.3(chr10:91048545-133620674)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053560]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053560]|See cases [RCV000053560] Chr10:91048545..133620674 [GRCh38]
Chr10:92808302..135434178 [GRCh37]
Chr10:92798282..135284168 [NCBI36]
Chr10:10q23.31-26.3
pathogenic
GRCh38/hg38 10q24.31-26.3(chr10:100194215-132432797)x3 copy number gain See cases [RCV000053564] Chr10:100194215..132432797 [GRCh38]
Chr10:101953972..134246301 [GRCh37]
Chr10:101943962..134096291 [NCBI36]
Chr10:10q24.31-26.3
pathogenic
GRCh38/hg38 10q25.1-26.3(chr10:106925303-133620815)x3 copy number gain See cases [RCV000053588] Chr10:106925303..133620815 [GRCh38]
Chr10:108685061..135434319 [GRCh37]
Chr10:108675051..135284309 [NCBI36]
Chr10:10q25.1-26.3
pathogenic
GRCh38/hg38 10q26.11-26.3(chr10:117866565-133554210)x3 copy number gain See cases [RCV000053589] Chr10:117866565..133554210 [GRCh38]
Chr10:119626076..135367714 [GRCh37]
Chr10:119616066..135217704 [NCBI36]
Chr10:10q26.11-26.3
pathogenic
NM_018117.12(WDR11):c.1183C>T (p.Arg395Trp) single nucleotide variant not provided [RCV000059796] Chr10:120866757 [GRCh38]
Chr10:122626269 [GRCh37]
Chr10:10q26.12
not provided
NM_018117.12(WDR11):c.1343G>A (p.Arg448Gln) single nucleotide variant not provided [RCV000059798] Chr10:120871218 [GRCh38]
Chr10:122630730 [GRCh37]
Chr10:10q26.12
likely pathogenic|uncertain significance|not provided
NM_018117.12(WDR11):c.2070T>A (p.His690Gln) single nucleotide variant Hypogonadotropic hypogonadism 14 with anosmia [RCV000030850]|not provided [RCV000059799] Chr10:120886785 [GRCh38]
Chr10:122646297 [GRCh37]
Chr10:10q26.12
pathogenic|not provided
NM_018117.12(WDR11):c.2932A>C (p.Lys978Gln) single nucleotide variant not provided [RCV000059800] Chr10:120904047 [GRCh38]
Chr10:122663559 [GRCh37]
Chr10:10q26.12
uncertain significance|not provided
NM_018117.12(WDR11):c.3450T>G (p.Phe1150Leu) single nucleotide variant Hypogonadotropic hypogonadism 14 with or without anosmia [RCV000988456]|See cases [RCV004584344]|not provided [RCV000059801] Chr10:120906788 [GRCh38]
Chr10:122666300 [GRCh37]
Chr10:10q26.12
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
GRCh38/hg38 10q25.1-26.3(chr10:108102587-133620674)x3 copy number gain See cases [RCV000133688] Chr10:108102587..133620674 [GRCh38]
Chr10:109862345..135434178 [GRCh37]
Chr10:109852335..135284168 [NCBI36]
Chr10:10q25.1-26.3
pathogenic
GRCh38/hg38 10q25.2-26.12(chr10:112701186-120970617)x3 copy number gain See cases [RCV000137511] Chr10:112701186..120970617 [GRCh38]
Chr10:114460945..122730130 [GRCh37]
Chr10:114450935..122720120 [NCBI36]
Chr10:10q25.2-26.12
likely pathogenic
GRCh38/hg38 10q24.31-26.3(chr10:100600492-133622588)x3 copy number gain See cases [RCV000137747] Chr10:100600492..133622588 [GRCh38]
Chr10:102360249..135436092 [GRCh37]
Chr10:102350239..135286082 [NCBI36]
Chr10:10q24.31-26.3
pathogenic
GRCh38/hg38 10q26.11-26.3(chr10:119707856-133613639)x3 copy number gain See cases [RCV000142005] Chr10:119707856..133613639 [GRCh38]
Chr10:121467368..135427143 [GRCh37]
Chr10:121457358..135277133 [NCBI36]
Chr10:10q26.11-26.3
pathogenic
GRCh37/hg19 10q26.12-26.2(chr10:122239239-128203032)x1 copy number loss See cases [RCV000240153] Chr10:122239239..128203032 [GRCh37]
Chr10:10q26.12-26.2
pathogenic
NM_018117.12(WDR11):c.1306A>G (p.Ile436Val) single nucleotide variant not provided [RCV000872959]|not specified [RCV000238652] Chr10:120871181 [GRCh38]
Chr10:122630693 [GRCh37]
Chr10:10q26.12
benign|uncertain significance
NM_018117.12(WDR11):c.797G>C (p.Arg266Pro) single nucleotide variant Hereditary breast ovarian cancer syndrome [RCV001374573] Chr10:120865130 [GRCh38]
Chr10:122624642 [GRCh37]
Chr10:10q26.12
uncertain significance
GRCh37/hg19 10q26.12-26.13(chr10:122608791-123684530)x64 copy number gain Neoplasm of the large intestine [RCV000239431] Chr10:122608791..123684530 [GRCh37]
Chr10:10q26.12-26.13
uncertain significance
GRCh37/hg19 10q24.32-26.3(chr10:103288313-135512075)x3 copy number gain See cases [RCV000240457] Chr10:103288313..135512075 [GRCh37]
Chr10:10q24.32-26.3
pathogenic
NM_018117.12(WDR11):c.2515+171G>C single nucleotide variant not provided [RCV001546521] Chr10:120891058 [GRCh38]
Chr10:122650570 [GRCh37]
Chr10:10q26.12
likely benign
NM_018117.12(WDR11):c.1233T>G (p.Cys411Trp) single nucleotide variant not provided [RCV000596181] Chr10:120867108 [GRCh38]
Chr10:122626620 [GRCh37]
Chr10:10q26.12
uncertain significance
GRCh37/hg19 10q26.12-26.3(chr10:122125760-135062972)x3 copy number gain See cases [RCV000449169] Chr10:122125760..135062972 [GRCh37]
Chr10:10q26.12-26.3
likely pathogenic
GRCh37/hg19 10q24.32-26.3(chr10:104633712-135427143)x3 copy number gain See cases [RCV000449386] Chr10:104633712..135427143 [GRCh37]
Chr10:10q24.32-26.3
pathogenic
GRCh37/hg19 10q26.12-26.3(chr10:122343861-135427143)x1 copy number loss See cases [RCV000446095] Chr10:122343861..135427143 [GRCh37]
Chr10:10q26.12-26.3
pathogenic
GRCh37/hg19 10q24.2-26.3(chr10:100780957-135427143)x3 copy number gain See cases [RCV000446733] Chr10:100780957..135427143 [GRCh37]
Chr10:10q24.2-26.3
pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3 copy number gain See cases [RCV000448750] Chr10:93297..135378918 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
NM_018117.12(WDR11):c.1425G>A (p.Pro475=) single nucleotide variant not provided [RCV000861152]|not specified [RCV000503772] Chr10:120871300 [GRCh38]
Chr10:122630812 [GRCh37]
Chr10:10q26.12
benign|likely benign
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143) copy number gain See cases [RCV000511389] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic|uncertain significance
GRCh37/hg19 10q25.1-26.3(chr10:106003533-135427143)x3 copy number gain See cases [RCV000510813] Chr10:106003533..135427143 [GRCh37]
Chr10:10q25.1-26.3
pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3 copy number gain See cases [RCV000510861] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
GRCh37/hg19 10q23.32-26.3(chr10:93283493-135427143)x3 copy number gain See cases [RCV000510972] Chr10:93283493..135427143 [GRCh37]
Chr10:10q23.32-26.3
pathogenic
NM_018117.12(WDR11):c.2426T>C (p.Val809Ala) single nucleotide variant Inborn genetic diseases [RCV003240861] Chr10:120890798 [GRCh38]
Chr10:122650310 [GRCh37]
Chr10:10q26.12
uncertain significance
NM_018117.12(WDR11):c.1952T>C (p.Ile651Thr) single nucleotide variant not provided [RCV003318275] Chr10:120885917 [GRCh38]
Chr10:122645429 [GRCh37]
Chr10:10q26.12
uncertain significance
NM_018117.12(WDR11):c.2390G>T (p.Arg797Leu) single nucleotide variant Inborn genetic diseases [RCV003262107] Chr10:120890762 [GRCh38]
Chr10:122650274 [GRCh37]
Chr10:10q26.12
uncertain significance
GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626438] Chr10:42347406..135534747 [GRCh37]
Chr10:10q11.21-26.3
drug response
NM_018117.12(WDR11):c.476A>T (p.Asp159Val) single nucleotide variant Inborn genetic diseases [RCV003291056] Chr10:120860232 [GRCh38]
Chr10:122619744 [GRCh37]
Chr10:10q26.12
uncertain significance
GRCh37/hg19 10q26.12-26.3(chr10:122509781-135427143)x1 copy number loss not provided [RCV000683287] Chr10:122509781..135427143 [GRCh37]
Chr10:10q26.12-26.3
pathogenic
GRCh37/hg19 10q23.33-26.3(chr10:94346520-135427143)x3 copy number gain not provided [RCV000683291] Chr10:94346520..135427143 [GRCh37]
Chr10:10q23.33-26.3
pathogenic
GRCh37/hg19 10q26.11-26.3(chr10:121269222-135427143)x3 copy number gain not provided [RCV000683288] Chr10:121269222..135427143 [GRCh37]
Chr10:10q26.11-26.3
pathogenic
GRCh37/hg19 10q24.33-26.3(chr10:105613040-135427143)x3 copy number gain not provided [RCV000683290] Chr10:105613040..135427143 [GRCh37]
Chr10:10q24.33-26.3
pathogenic
NM_018117.12(WDR11):c.2108G>A (p.Arg703Gln) single nucleotide variant CHARGE syndrome [RCV000757994] Chr10:120886823 [GRCh38]
Chr10:122646335 [GRCh37]
Chr10:10q26.12
uncertain significance
NC_000010.11:g.120851275T>A single nucleotide variant not provided [RCV001541412] Chr10:120851275 [GRCh38]
Chr10:122610787 [GRCh37]
Chr10:10q26.12
benign
GRCh37/hg19 10q26.12-26.3(chr10:122443197-135477883)x1 copy number loss not provided [RCV000737305] Chr10:122443197..135477883 [GRCh37]
Chr10:10q26.12-26.3
pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:73232-135524321)x3 copy number gain not provided [RCV000749464] Chr10:73232..135524321 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:98087-135477883)x3 copy number gain not provided [RCV000749465] Chr10:98087..135477883 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
NM_018117.12(WDR11):c.2228+214C>T single nucleotide variant not provided [RCV001644318] Chr10:120889398 [GRCh38]
Chr10:122648910 [GRCh37]
Chr10:10q26.12
benign
NM_018117.12(WDR11):c.1439del (p.Asn480fs) deletion Intellectual developmental disorder, autosomal recessive 78 [RCV003152629]|Microcephaly [RCV001647288]|WDR11-related disorder [RCV004753315] Chr10:120871309 [GRCh38]
Chr10:122630821 [GRCh37]
Chr10:10q26.12
pathogenic|likely pathogenic
NM_018117.12(WDR11):c.1557-321T>C single nucleotide variant not provided [RCV001612306] Chr10:120878032 [GRCh38]
Chr10:122637544 [GRCh37]
Chr10:10q26.12
benign
NM_018117.12(WDR11):c.2516-143C>T single nucleotide variant not provided [RCV001583432] Chr10:120899886 [GRCh38]
Chr10:122659398 [GRCh37]
Chr10:10q26.12
likely benign
NM_018117.12(WDR11):c.1556+263_1556+264insG insertion not provided [RCV001534054] Chr10:120874186..120874187 [GRCh38]
Chr10:122633698..122633699 [GRCh37]
Chr10:10q26.12
benign
NM_018117.12(WDR11):c.1556+289G>T single nucleotide variant not provided [RCV001612755] Chr10:120874212 [GRCh38]
Chr10:122633724 [GRCh37]
Chr10:10q26.12
benign
NM_018117.12(WDR11):c.*187G>A single nucleotide variant not provided [RCV001691884] Chr10:120908900 [GRCh38]
Chr10:122668412 [GRCh37]
Chr10:10q26.12
benign
NM_018117.12(WDR11):c.1944G>A (p.Glu648=) single nucleotide variant WDR11-related disorder [RCV003908144]|not provided [RCV000860722] Chr10:120885909 [GRCh38]
Chr10:122645421 [GRCh37]
Chr10:10q26.12
benign
NM_018117.12(WDR11):c.1556+273del deletion not provided [RCV001667874] Chr10:120874196 [GRCh38]
Chr10:122633708 [GRCh37]
Chr10:10q26.12
benign
NM_018117.12(WDR11):c.2122-271del deletion not provided [RCV001566580] Chr10:120888798 [GRCh38]
Chr10:122648310 [GRCh37]
Chr10:10q26.12
likely benign
NM_018117.12(WDR11):c.708A>G (p.Lys236=) single nucleotide variant not provided [RCV000873371] Chr10:120862916 [GRCh38]
Chr10:122622428 [GRCh37]
Chr10:10q26.12
likely benign
NM_018117.12(WDR11):c.3631T>C (p.Leu1211=) single nucleotide variant not provided [RCV000861088] Chr10:120908669 [GRCh38]
Chr10:122668181 [GRCh37]
Chr10:10q26.12
benign|likely benign
NM_018117.12(WDR11):c.1556+264_1556+265insG insertion not provided [RCV001693196] Chr10:120874187..120874188 [GRCh38]
Chr10:122633699..122633700 [GRCh37]
Chr10:10q26.12
benign
NM_018117.12(WDR11):c.3033_3036del microsatellite Intellectual developmental disorder, autosomal recessive 78 [RCV003152630]|Microcephaly [RCV001647289]|not provided [RCV002554100] Chr10:120904644..120904647 [GRCh38]
Chr10:122664156..122664159 [GRCh37]
Chr10:10q26.12
pathogenic
NM_018117.12(WDR11):c.*71G>A single nucleotide variant not provided [RCV001612416] Chr10:120908784 [GRCh38]
Chr10:122668296 [GRCh37]
Chr10:10q26.12
benign
NM_018117.12(WDR11):c.2343+148A>G single nucleotide variant not provided [RCV001665778] Chr10:120890157 [GRCh38]
Chr10:122649669 [GRCh37]
Chr10:10q26.12
benign
NM_018117.12(WDR11):c.2624+319C>T single nucleotide variant not provided [RCV001666301] Chr10:120900456 [GRCh38]
Chr10:122659968 [GRCh37]
Chr10:10q26.12
benign
NM_018117.12(WDR11):c.527-239T>C single nucleotide variant not provided [RCV001724878] Chr10:120862496 [GRCh38]
Chr10:122622008 [GRCh37]
Chr10:10q26.12
benign
NM_018117.12(WDR11):c.471T>C (p.Tyr157=) single nucleotide variant not provided [RCV000869181] Chr10:120860227 [GRCh38]
Chr10:122619739 [GRCh37]
Chr10:10q26.12
likely benign
NM_018117.12(WDR11):c.1842T>G (p.Thr614=) single nucleotide variant not provided [RCV000920596] Chr10:120883882 [GRCh38]
Chr10:122643394 [GRCh37]
Chr10:10q26.12
likely benign
GRCh37/hg19 10q25.1-26.3(chr10:110022170-135439095) copy number gain not provided [RCV000767665] Chr10:110022170..135439095 [GRCh37]
Chr10:10q25.1-26.3
pathogenic
GRCh37/hg19 10q25.3-26.13(chr10:117024753-124942806) copy number loss Distal 10q deletion syndrome [RCV000767564] Chr10:117024753..124942806 [GRCh37]
Chr10:10q25.3-26.13
pathogenic
NM_018117.12(WDR11):c.2127T>C (p.Ser709=) single nucleotide variant not provided [RCV000925115] Chr10:120889083 [GRCh38]
Chr10:122648595 [GRCh37]
Chr10:10q26.12
likely benign
NM_018117.12(WDR11):c.1113C>T (p.Ala371=) single nucleotide variant WDR11-related disorder [RCV003948198]|not provided [RCV000872834] Chr10:120866687 [GRCh38]
Chr10:122626199 [GRCh37]
Chr10:10q26.12
benign|likely benign
NM_018117.12(WDR11):c.2991A>G (p.Thr997=) single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV002501185]|not provided [RCV000860669] Chr10:120904106 [GRCh38]
Chr10:122663618 [GRCh37]
Chr10:10q26.12
benign|likely benign
NM_018117.12(WDR11):c.86+8C>T single nucleotide variant not provided [RCV000980550] Chr10:120851514 [GRCh38]
Chr10:122611026 [GRCh37]
Chr10:10q26.12
likely benign
NM_018117.12(WDR11):c.1974-4A>G single nucleotide variant not provided [RCV000898891] Chr10:120886685 [GRCh38]
Chr10:122646197 [GRCh37]
Chr10:10q26.12
likely benign
NM_018117.12(WDR11):c.288C>T (p.Ile96=) single nucleotide variant WDR11-related disorder [RCV003965770]|not provided [RCV000874340] Chr10:120858732 [GRCh38]
Chr10:122618244 [GRCh37]
Chr10:10q26.12
likely benign
NM_018117.12(WDR11):c.456A>G (p.Leu152=) single nucleotide variant not provided [RCV000953635] Chr10:120860212 [GRCh38]
Chr10:122619724 [GRCh37]
Chr10:10q26.12
likely benign
NM_018117.12(WDR11):c.411G>A (p.Pro137=) single nucleotide variant not provided [RCV000874468] Chr10:120860167 [GRCh38]
Chr10:122619679 [GRCh37]
Chr10:10q26.12
likely benign
NM_018117.12(WDR11):c.3132C>G (p.Gly1044=) single nucleotide variant not provided [RCV000874109] Chr10:120904750 [GRCh38]
Chr10:122664262 [GRCh37]
Chr10:10q26.12
likely benign
NM_018117.12(WDR11):c.771G>A (p.Arg257=) single nucleotide variant not provided [RCV000874110] Chr10:120865104 [GRCh38]
Chr10:122624616 [GRCh37]
Chr10:10q26.12
likely benign
NM_018117.12(WDR11):c.3126G>A (p.Ser1042=) single nucleotide variant not provided [RCV000872140] Chr10:120904744 [GRCh38]
Chr10:122664256 [GRCh37]
Chr10:10q26.12
likely benign
NM_018117.12(WDR11):c.2688-5C>G single nucleotide variant not provided [RCV000872192] Chr10:120902252 [GRCh38]
Chr10:122661764 [GRCh37]
Chr10:10q26.12
benign
NM_018117.12(WDR11):c.1302T>C (p.Ser434=) single nucleotide variant not provided [RCV000909742] Chr10:120871177 [GRCh38]
Chr10:122630689 [GRCh37]
Chr10:10q26.12
likely benign
NM_018117.12(WDR11):c.1803C>G (p.Thr601=) single nucleotide variant not provided [RCV000872249] Chr10:120883843 [GRCh38]
Chr10:122643355 [GRCh37]
Chr10:10q26.12
benign
NM_018117.12(WDR11):c.537C>T (p.Ser179=) single nucleotide variant not provided [RCV000872252] Chr10:120862745 [GRCh38]
Chr10:122622257 [GRCh37]
Chr10:10q26.12
benign
NM_018117.12(WDR11):c.2415G>A (p.Thr805=) single nucleotide variant not provided [RCV000872913] Chr10:120890787 [GRCh38]
Chr10:122650299 [GRCh37]
Chr10:10q26.12
likely benign
NM_018117.12(WDR11):c.1174C>A (p.Arg392=) single nucleotide variant not provided [RCV000872915] Chr10:120866748 [GRCh38]
Chr10:122626260 [GRCh37]
Chr10:10q26.12
likely benign
NM_018117.12(WDR11):c.3318C>T (p.Ala1106=) single nucleotide variant not provided [RCV000860666] Chr10:120905902 [GRCh38]
Chr10:122665414 [GRCh37]
Chr10:10q26.12
benign
GRCh37/hg19 10q25.2-26.3(chr10:114544537-135427143)x3 copy number gain not provided [RCV000847820] Chr10:114544537..135427143 [GRCh37]
Chr10:10q25.2-26.3
pathogenic
NM_018117.12(WDR11):c.2962G>A (p.Glu988Lys) single nucleotide variant WDR11-related disorder [RCV003918314]|not provided [RCV000860557] Chr10:120904077 [GRCh38]
Chr10:122663589 [GRCh37]
Chr10:10q26.12
benign|likely benign
NM_018117.12(WDR11):c.1066G>A (p.Val356Ile) single nucleotide variant WDR11-related disorder [RCV003918316]|not provided [RCV000860646] Chr10:120866640 [GRCh38]
Chr10:122626152 [GRCh37]
Chr10:10q26.12
benign|likely benign
NM_018117.12(WDR11):c.2736G>A (p.Arg912=) single nucleotide variant not provided [RCV000875773] Chr10:120902305 [GRCh38]
Chr10:122661817 [GRCh37]
Chr10:10q26.12
likely benign
NM_018117.12(WDR11):c.3165G>A (p.Thr1055=) single nucleotide variant not provided [RCV000875799] Chr10:120904783 [GRCh38]
Chr10:122664295 [GRCh37]
Chr10:10q26.12
likely benign
NM_018117.12(WDR11):c.1440C>T (p.Asn480=) single nucleotide variant not provided [RCV000861153] Chr10:120871315 [GRCh38]
Chr10:122630827 [GRCh37]
Chr10:10q26.12
likely benign
NM_018117.12(WDR11):c.3437+8G>A single nucleotide variant WDR11-related disorder [RCV003965766]|not provided [RCV000874198] Chr10:120906029 [GRCh38]
Chr10:122665541 [GRCh37]
Chr10:10q26.12
likely benign
NM_018117.12(WDR11):c.789C>A (p.Leu263=) single nucleotide variant not provided [RCV000872144] Chr10:120865122 [GRCh38]
Chr10:122624634 [GRCh37]
Chr10:10q26.12
benign|likely benign
NM_018117.12(WDR11):c.3193+216T>C single nucleotide variant not provided [RCV001662938] Chr10:120905027 [GRCh38]
Chr10:122664539 [GRCh37]
Chr10:10q26.12
benign
NC_000010.11:g.120851124G>A single nucleotide variant not provided [RCV001551326] Chr10:120851124 [GRCh38]
Chr10:122610636 [GRCh37]
Chr10:10q26.12
likely benign
NM_018117.12(WDR11):c.3193+55A>G single nucleotide variant not provided [RCV001567647] Chr10:120904866 [GRCh38]
Chr10:122664378 [GRCh37]
Chr10:10q26.12
likely benign
NC_000010.11:g.120850879C>G single nucleotide variant not provided [RCV001617238] Chr10:120850879 [GRCh38]
Chr10:122610391 [GRCh37]
Chr10:10q26.12
benign
NM_018117.12(WDR11):c.2228+55TTTTG[6] microsatellite not provided [RCV001714619] Chr10:120889238..120889239 [GRCh38]
Chr10:122648750..122648751 [GRCh37]
Chr10:10q26.12
benign
NM_018117.12(WDR11):c.*129_*132dup duplication not provided [RCV001714638] Chr10:120908841..120908842 [GRCh38]
Chr10:122668353..122668354 [GRCh37]
Chr10:10q26.12
benign
NM_018117.12(WDR11):c.86+143T>C single nucleotide variant not provided [RCV001560251] Chr10:120851649 [GRCh38]
Chr10:122611161 [GRCh37]
Chr10:10q26.12
likely benign
NM_018117.12(WDR11):c.1974-131G>C single nucleotide variant not provided [RCV001637640] Chr10:120886558 [GRCh38]
Chr10:122646070 [GRCh37]
Chr10:10q26.12
benign
NM_018117.12(WDR11):c.1740-342A>G single nucleotide variant not provided [RCV001708543] Chr10:120883438 [GRCh38]
Chr10:122642950 [GRCh37]
Chr10:10q26.12
benign
NM_018117.12(WDR11):c.995-209_995-207del microsatellite not provided [RCV001708647] Chr10:120866357..120866359 [GRCh38]
Chr10:122625869..122625871 [GRCh37]
Chr10:10q26.12
benign
NM_018117.12(WDR11):c.3292-39G>A single nucleotide variant not provided [RCV001550174] Chr10:120905837 [GRCh38]
Chr10:122665349 [GRCh37]
Chr10:10q26.12
likely benign
NM_018117.12(WDR11):c.526+136G>A single nucleotide variant not provided [RCV001617935] Chr10:120860418 [GRCh38]
Chr10:122619930 [GRCh37]
Chr10:10q26.12
benign
NM_018117.12(WDR11):c.2754-186G>A single nucleotide variant not provided [RCV001637332] Chr10:120902869 [GRCh38]
Chr10:122662381 [GRCh37]
Chr10:10q26.12
benign
NM_018117.12(WDR11):c.1556+270_1556+279del deletion not provided [RCV001589364] Chr10:120874193..120874202 [GRCh38]
Chr10:122633705..122633714 [GRCh37]
Chr10:10q26.12
likely benign
NM_018117.12(WDR11):c.2343+149G>A single nucleotide variant not provided [RCV001671903] Chr10:120890158 [GRCh38]
Chr10:122649670 [GRCh37]
Chr10:10q26.12
benign
NM_018117.12(WDR11):c.1848+299G>C single nucleotide variant not provided [RCV001674162] Chr10:120884187 [GRCh38]
Chr10:122643699 [GRCh37]
Chr10:10q26.12
benign
NM_018117.12(WDR11):c.1556+282G>T single nucleotide variant not provided [RCV001619703] Chr10:120874205 [GRCh38]
Chr10:122633717 [GRCh37]
Chr10:10q26.12
benign
NM_018117.12(WDR11):c.3437+311C>T single nucleotide variant not provided [RCV001636415] Chr10:120906332 [GRCh38]
Chr10:122665844 [GRCh37]
Chr10:10q26.12
benign
NM_018117.12(WDR11):c.2624+320G>A single nucleotide variant not provided [RCV001576892] Chr10:120900457 [GRCh38]
Chr10:122659969 [GRCh37]
Chr10:10q26.12
likely benign
NM_018117.12(WDR11):c.2687+91C>T single nucleotide variant not provided [RCV001666982] Chr10:120901189 [GRCh38]
Chr10:122660701 [GRCh37]
Chr10:10q26.12
benign
NM_018117.12(WDR11):c.2228+55TTTTG[5] microsatellite not provided [RCV001649571] Chr10:120889238..120889239 [GRCh38]
Chr10:122648750..122648751 [GRCh37]
Chr10:10q26.12
benign
NM_018117.12(WDR11):c.1556+264_1556+265insGT insertion not provided [RCV001592112] Chr10:120874186..120874187 [GRCh38]
Chr10:122633698..122633699 [GRCh37]
Chr10:10q26.12
likely benign
NM_018117.12(WDR11):c.1556+273_1556+285del deletion not provided [RCV001569756] Chr10:120874196..120874208 [GRCh38]
Chr10:122633708..122633720 [GRCh37]
Chr10:10q26.12
likely benign
NM_018117.12(WDR11):c.1191-51G>A single nucleotide variant not provided [RCV001557090] Chr10:120867015 [GRCh38]
Chr10:122626527 [GRCh37]
Chr10:10q26.12
likely benign
NM_018117.12(WDR11):c.3291+142C>T single nucleotide variant not provided [RCV001648936] Chr10:120905558 [GRCh38]
Chr10:122665070 [GRCh37]
Chr10:10q26.12
benign
NM_018117.12(WDR11):c.2121+31A>G single nucleotide variant Hypogonadotropic hypogonadism 14 with or without anosmia [RCV002243447]|not provided [RCV001718154] Chr10:120886867 [GRCh38]
Chr10:122646379 [GRCh37]
Chr10:10q26.12
benign
NM_018117.12(WDR11):c.2516-51C>T single nucleotide variant not provided [RCV001718156] Chr10:120899978 [GRCh38]
Chr10:122659490 [GRCh37]
Chr10:10q26.12
benign
NM_018117.12(WDR11):c.2228+168C>T single nucleotide variant not provided [RCV001714622] Chr10:120889352 [GRCh38]
Chr10:122648864 [GRCh37]
Chr10:10q26.12
benign
NM_018117.12(WDR11):c.2228+178C>T single nucleotide variant not provided [RCV001558045] Chr10:120889362 [GRCh38]
Chr10:122648874 [GRCh37]
Chr10:10q26.12
likely benign
NM_018117.12(WDR11):c.527-139C>A single nucleotide variant not provided [RCV001718163] Chr10:120862596 [GRCh38]
Chr10:122622108 [GRCh37]
Chr10:10q26.12
benign
NM_018117.12(WDR11):c.3437+180C>T single nucleotide variant not provided [RCV001718165] Chr10:120906201 [GRCh38]
Chr10:122665713 [GRCh37]
Chr10:10q26.12
benign
NM_018117.12(WDR11):c.2687+163T>C single nucleotide variant not provided [RCV001614038] Chr10:120901261 [GRCh38]
Chr10:122660773 [GRCh37]
Chr10:10q26.12
benign
NM_018117.12(WDR11):c.2624+333T>C single nucleotide variant not provided [RCV001549421] Chr10:120900470 [GRCh38]
Chr10:122659982 [GRCh37]
Chr10:10q26.12
likely benign
NM_018117.12(WDR11):c.3518-163C>T single nucleotide variant not provided [RCV001592637] Chr10:120908393 [GRCh38]
Chr10:122667905 [GRCh37]
Chr10:10q26.12
likely benign
NM_018117.12(WDR11):c.1899A>T (p.Ala633=) single nucleotide variant Hypogonadotropic hypogonadism 14 with or without anosmia [RCV002243372]|not provided [RCV001656862] Chr10:120885864 [GRCh38]
Chr10:122645376 [GRCh37]
Chr10:10q26.12
benign
NM_018117.12(WDR11):c.2343+273G>A single nucleotide variant not provided [RCV001588460] Chr10:120890282 [GRCh38]
Chr10:122649794 [GRCh37]
Chr10:10q26.12
likely benign
NM_018117.12(WDR11):c.1542C>T (p.His514=) single nucleotide variant not provided [RCV001673690] Chr10:120873909 [GRCh38]
Chr10:122633421 [GRCh37]
Chr10:10q26.12
benign
NM_018117.12(WDR11):c.2932-30G>C single nucleotide variant not provided [RCV001541881] Chr10:120904017 [GRCh38]
Chr10:122663529 [GRCh37]
Chr10:10q26.12
benign
NM_018117.12(WDR11):c.2344-9C>T single nucleotide variant not provided [RCV000862116] Chr10:120890707 [GRCh38]
Chr10:122650219 [GRCh37]
Chr10:10q26.12
likely benign
NM_018117.12(WDR11):c.748T>C (p.Leu250=) single nucleotide variant not provided [RCV000898636] Chr10:120865081 [GRCh38]
Chr10:122624593 [GRCh37]
Chr10:10q26.12
likely benign
NM_018117.12(WDR11):c.1974-5C>G single nucleotide variant not provided [RCV000873988] Chr10:120886684 [GRCh38]
Chr10:122646196 [GRCh37]
Chr10:10q26.12
likely benign
NM_018117.12(WDR11):c.713+9C>G single nucleotide variant not provided [RCV000930882] Chr10:120862930 [GRCh38]
Chr10:122622442 [GRCh37]
Chr10:10q26.12
likely benign
NM_018117.12(WDR11):c.2493A>G (p.Arg831=) single nucleotide variant not provided [RCV000874307] Chr10:120890865 [GRCh38]
Chr10:122650377 [GRCh37]
Chr10:10q26.12
likely benign
NM_018117.12(WDR11):c.1371G>A (p.Thr457=) single nucleotide variant not provided [RCV000874445] Chr10:120871246 [GRCh38]
Chr10:122630758 [GRCh37]
Chr10:10q26.12
benign|likely benign
NM_018117.12(WDR11):c.2303C>T (p.Ala768Val) single nucleotide variant not provided [RCV000885474] Chr10:120889969 [GRCh38]
Chr10:122649481 [GRCh37]
Chr10:10q26.12
likely benign
NM_018117.12(WDR11):c.3609C>T (p.Ala1203=) single nucleotide variant not provided [RCV000908823] Chr10:120908647 [GRCh38]
Chr10:122668159 [GRCh37]
Chr10:10q26.12
likely benign
NM_018117.12(WDR11):c.1848+9C>T single nucleotide variant not provided [RCV000944047] Chr10:120883897 [GRCh38]
Chr10:122643409 [GRCh37]
Chr10:10q26.12
likely benign
NM_018117.12(WDR11):c.2781C>T (p.His927=) single nucleotide variant not provided [RCV000918577] Chr10:120903082 [GRCh38]
Chr10:122662594 [GRCh37]
Chr10:10q26.12
likely benign
NM_018117.12(WDR11):c.1849G>T (p.Glu617Ter) single nucleotide variant Hypogonadotropic hypogonadism 14 with or without anosmia [RCV001192675] Chr10:120885814 [GRCh38]
Chr10:122645326 [GRCh37]
Chr10:10q26.12
likely pathogenic
NM_018117.12(WDR11):c.3384C>T (p.Leu1128=) single nucleotide variant not provided [RCV000911622] Chr10:120905968 [GRCh38]
Chr10:122665480 [GRCh37]
Chr10:10q26.12
likely benign
NM_018117.12(WDR11):c.2411G>C (p.Cys804Ser) single nucleotide variant not provided [RCV004814712] Chr10:120890783 [GRCh38]
Chr10:122650295 [GRCh37]
uncertain significance
NM_018117.12(WDR11):c.2800C>T (p.His934Tyr) single nucleotide variant not provided [RCV000890120] Chr10:120903101 [GRCh38]
Chr10:122662613 [GRCh37]
Chr10:10q26.12
likely benign
NM_018117.12(WDR11):c.3291+11C>T single nucleotide variant not provided [RCV001540786] Chr10:120905427 [GRCh38]
Chr10:122664939 [GRCh37]
Chr10:10q26.12
benign|likely benign
NM_018117.12(WDR11):c.1471+30del deletion not provided [RCV002771073] Chr10:120871366 [GRCh38]
Chr10:122630878 [GRCh37]
Chr10:10q26.12
benign
NM_018117.12(WDR11):c.1556+266_1556+267insG insertion not provided [RCV001562792] Chr10:120874189..120874190 [GRCh38]
Chr10:122633701..122633702 [GRCh37]
Chr10:10q26.12
likely benign
NM_018117.12(WDR11):c.2121+295T>C single nucleotide variant not provided [RCV001621054] Chr10:120887131 [GRCh38]
Chr10:122646643 [GRCh37]
Chr10:10q26.12
benign
NM_018117.12(WDR11):c.3437+225T>C single nucleotide variant not provided [RCV001661144] Chr10:120906246 [GRCh38]
Chr10:122665758 [GRCh37]
Chr10:10q26.12
benign
NM_018117.12(WDR11):c.995-242A>G single nucleotide variant not provided [RCV001559510] Chr10:120866327 [GRCh38]
Chr10:122625839 [GRCh37]
Chr10:10q26.12
likely benign
NM_018117.12(WDR11):c.1848+197C>A single nucleotide variant not provided [RCV001644021] Chr10:120884085 [GRCh38]
Chr10:122643597 [GRCh37]
Chr10:10q26.12
benign
NM_018117.12(WDR11):c.834G>A (p.Thr278=) single nucleotide variant Hypogonadotropic hypogonadism 14 with or without anosmia [RCV002243332]|not provided [RCV001620064] Chr10:120865167 [GRCh38]
Chr10:122624679 [GRCh37]
Chr10:10q26.12
benign
NM_018117.12(WDR11):c.3518-129C>T single nucleotide variant not provided [RCV001560069] Chr10:120908427 [GRCh38]
Chr10:122667939 [GRCh37]
Chr10:10q26.12
likely benign
NM_018117.12(WDR11):c.3194-214T>G single nucleotide variant not provided [RCV001560094] Chr10:120905105 [GRCh38]
Chr10:122664617 [GRCh37]
Chr10:10q26.12
likely benign
NM_018117.12(WDR11):c.1556+263T>G single nucleotide variant not provided [RCV001575867] Chr10:120874186 [GRCh38]
Chr10:122633698 [GRCh37]
Chr10:10q26.12
likely benign
NM_018117.12(WDR11):c.1974-40A>G single nucleotide variant not provided [RCV001555073] Chr10:120886649 [GRCh38]
Chr10:122646161 [GRCh37]
Chr10:10q26.12
likely benign
NM_018117.12(WDR11):c.673C>G (p.Leu225Val) single nucleotide variant not provided [RCV001573027] Chr10:120862881 [GRCh38]
Chr10:122622393 [GRCh37]
Chr10:10q26.12
uncertain significance
NM_018117.12(WDR11):c.1974-75G>A single nucleotide variant not provided [RCV001718158] Chr10:120886614 [GRCh38]
Chr10:122646126 [GRCh37]
Chr10:10q26.12
benign
NM_018117.12(WDR11):c.1848+47A>C single nucleotide variant not provided [RCV001718164] Chr10:120883935 [GRCh38]
Chr10:122643447 [GRCh37]
Chr10:10q26.12
benign
NM_018117.12(WDR11):c.1294+295G>A single nucleotide variant not provided [RCV001620405] Chr10:120867464 [GRCh38]
Chr10:122626976 [GRCh37]
Chr10:10q26.12
benign
NM_018117.12(WDR11):c.1295-310C>G single nucleotide variant not provided [RCV001556247] Chr10:120870860 [GRCh38]
Chr10:122630372 [GRCh37]
Chr10:10q26.12
likely benign
NM_018117.12(WDR11):c.1556+264T>G single nucleotide variant not provided [RCV001556484] Chr10:120874187 [GRCh38]
Chr10:122633699 [GRCh37]
Chr10:10q26.12
likely benign
NM_018117.12(WDR11):c.3665T>C (p.Ile1222Thr) single nucleotide variant Hypogonadotropic hypogonadism 14 with or without anosmia [RCV002472014] Chr10:120908703 [GRCh38]
Chr10:122668215 [GRCh37]
Chr10:10q26.12
uncertain significance
NM_018117.12(WDR11):c.3193+192A>T single nucleotide variant not provided [RCV001687551] Chr10:120905003 [GRCh38]
Chr10:122664515 [GRCh37]
Chr10:10q26.12
benign
NM_018117.12(WDR11):c.3291+39C>T single nucleotide variant Hypogonadotropic hypogonadism 14 with or without anosmia [RCV002243450]|not provided [RCV001717188] Chr10:120905455 [GRCh38]
Chr10:122664967 [GRCh37]
Chr10:10q26.12
benign
NM_018117.12(WDR11):c.994+261T>C single nucleotide variant not provided [RCV001716987] Chr10:120866005 [GRCh38]
Chr10:122625517 [GRCh37]
Chr10:10q26.12
benign
NC_000010.11:g.120851145T>C single nucleotide variant not provided [RCV001674356] Chr10:120851145 [GRCh38]
Chr10:122610657 [GRCh37]
Chr10:10q26.12
benign
NM_018117.12(WDR11):c.3292-103A>C single nucleotide variant not provided [RCV001717178] Chr10:120905773 [GRCh38]
Chr10:122665285 [GRCh37]
Chr10:10q26.12
benign
NM_018117.12(WDR11):c.1556+265_1556+266insG insertion not provided [RCV001536378] Chr10:120874188..120874189 [GRCh38]
Chr10:122633700..122633701 [GRCh37]
Chr10:10q26.12
likely benign
NM_018117.12(WDR11):c.1472-265A>T single nucleotide variant not provided [RCV001659642] Chr10:120873574 [GRCh38]
Chr10:122633086 [GRCh37]
Chr10:10q26.12
benign
NC_000010.11:g.120851281C>T single nucleotide variant not provided [RCV001659338] Chr10:120851281 [GRCh38]
Chr10:122610793 [GRCh37]
Chr10:10q26.12
benign
NM_018117.12(WDR11):c.3292-78T>A single nucleotide variant not provided [RCV001716621] Chr10:120905798 [GRCh38]
Chr10:122665310 [GRCh37]
Chr10:10q26.12
benign
NM_018117.12(WDR11):c.1664-159dup duplication not provided [RCV001723210] Chr10:120880656..120880657 [GRCh38]
Chr10:122640168..122640169 [GRCh37]
Chr10:10q26.12
benign
NM_018117.12(WDR11):c.1471+161del deletion not provided [RCV001723222] Chr10:120871495 [GRCh38]
Chr10:122631007 [GRCh37]
Chr10:10q26.12
benign
NM_018117.12(WDR11):c.2228+55TTTTG[4] microsatellite not provided [RCV001594009] Chr10:120889238..120889239 [GRCh38]
Chr10:122648750..122648751 [GRCh37]
Chr10:10q26.12
likely benign
NM_018117.12(WDR11):c.1556+273G>T single nucleotide variant not provided [RCV001689079] Chr10:120874196 [GRCh38]
Chr10:122633708 [GRCh37]
Chr10:10q26.12
benign
NM_018117.12(WDR11):c.3518-274_3518-273insAATCTGGGAG insertion not provided [RCV001676354] Chr10:120908276..120908277 [GRCh38]
Chr10:122667788..122667789 [GRCh37]
Chr10:10q26.12
benign
NM_018117.12(WDR11):c.1295-95A>G single nucleotide variant not provided [RCV001654870] Chr10:120871075 [GRCh38]
Chr10:122630587 [GRCh37]
Chr10:10q26.12
benign
NM_018117.12(WDR11):c.352+271A>T single nucleotide variant not provided [RCV001688893] Chr10:120859067 [GRCh38]
Chr10:122618579 [GRCh37]
Chr10:10q26.12
benign
NM_018117.12(WDR11):c.2304A>G (p.Ala768=) single nucleotide variant Hypogonadotropic hypogonadism 14 with or without anosmia [RCV002243448]|not provided [RCV001718157] Chr10:120889970 [GRCh38]
Chr10:122649482 [GRCh37]
Chr10:10q26.12
benign
NM_018117.12(WDR11):c.3393C>T (p.Leu1131=) single nucleotide variant not provided [RCV001718161] Chr10:120905977 [GRCh38]
Chr10:122665489 [GRCh37]
Chr10:10q26.12
benign
NM_018117.12(WDR11):c.1974-298G>C single nucleotide variant not provided [RCV001696393] Chr10:120886391 [GRCh38]
Chr10:122645903 [GRCh37]
Chr10:10q26.12
benign
NM_018117.12(WDR11):c.3193+65C>T single nucleotide variant not provided [RCV001688173] Chr10:120904876 [GRCh38]
Chr10:122664388 [GRCh37]
Chr10:10q26.12
benign
NM_018117.12(WDR11):c.2229-289G>A single nucleotide variant not provided [RCV001596169] Chr10:120889606 [GRCh38]
Chr10:122649118 [GRCh37]
Chr10:10q26.12
likely benign
NM_018117.12(WDR11):c.353-154AC[11] microsatellite not provided [RCV001678320] Chr10:120859955..120859956 [GRCh38]
Chr10:122619467..122619468 [GRCh37]
Chr10:10q26.12
benign
NM_018117.12(WDR11):c.995-35C>T single nucleotide variant not provided [RCV001581192] Chr10:120866534 [GRCh38]
Chr10:122626046 [GRCh37]
Chr10:10q26.12
likely benign
NM_018117.12(WDR11):c.2624+163C>T single nucleotide variant not provided [RCV001678018] Chr10:120900300 [GRCh38]
Chr10:122659812 [GRCh37]
Chr10:10q26.12
benign
GRCh37/hg19 10q26.11-26.3(chr10:119996339-135427143)x3 copy number gain not provided [RCV001006356] Chr10:119996339..135427143 [GRCh37]
Chr10:10q26.11-26.3
pathogenic
NM_018117.12(WDR11):c.1556+285G>T single nucleotide variant not provided [RCV001620900] Chr10:120874208 [GRCh38]
Chr10:122633720 [GRCh37]
Chr10:10q26.12
benign
NM_018117.12(WDR11):c.3363C>G (p.Val1121=) single nucleotide variant Hypogonadotropic hypogonadism 14 with or without anosmia [RCV002243360]|not provided [RCV001654214] Chr10:120905947 [GRCh38]
Chr10:122665459 [GRCh37]
Chr10:10q26.12
benign
NM_018117.12(WDR11):c.1663+25G>A single nucleotide variant not provided [RCV001657089] Chr10:120878484 [GRCh38]
Chr10:122637996 [GRCh37]
Chr10:10q26.12
benign
NM_018117.12(WDR11):c.3518-224G>A single nucleotide variant not provided [RCV001669005] Chr10:120908332 [GRCh38]
Chr10:122667844 [GRCh37]
Chr10:10q26.12
benign
NM_018117.12(WDR11):c.2624+204G>C single nucleotide variant not provided [RCV001671113] Chr10:120900341 [GRCh38]
Chr10:122659853 [GRCh37]
Chr10:10q26.12
benign
NM_018117.12(WDR11):c.51G>T (p.Gly17=) single nucleotide variant not provided [RCV001691021] Chr10:120851471 [GRCh38]
Chr10:122610983 [GRCh37]
Chr10:10q26.12
benign
NM_018117.12(WDR11):c.3028-208G>A single nucleotide variant not provided [RCV001714618] Chr10:120904438 [GRCh38]
Chr10:122663950 [GRCh37]
Chr10:10q26.12
benign
NM_018117.12(WDR11):c.2515+199A>G single nucleotide variant not provided [RCV001714621] Chr10:120891086 [GRCh38]
Chr10:122650598 [GRCh37]
Chr10:10q26.12
benign
NM_018117.12(WDR11):c.-6G>A single nucleotide variant not provided [RCV001714626] Chr10:120851415 [GRCh38]
Chr10:122610927 [GRCh37]
Chr10:10q26.12
benign
NM_018117.12(WDR11):c.2228+118A>G single nucleotide variant not provided [RCV001714628] Chr10:120889302 [GRCh38]
Chr10:122648814 [GRCh37]
Chr10:10q26.12
benign
NM_018117.12(WDR11):c.1294+272A>G single nucleotide variant not provided [RCV001684958] Chr10:120867441 [GRCh38]
Chr10:122626953 [GRCh37]
Chr10:10q26.12
benign
NM_018117.12(WDR11):c.1973+195T>C single nucleotide variant not provided [RCV001616942] Chr10:120886133 [GRCh38]
Chr10:122645645 [GRCh37]
Chr10:10q26.12
benign
NC_000010.11:g.120851127T>G single nucleotide variant not provided [RCV001713915] Chr10:120851127 [GRCh38]
Chr10:122610639 [GRCh37]
Chr10:10q26.12
benign
NM_018117.12(WDR11):c.1664-95T>A single nucleotide variant not provided [RCV001648032] Chr10:120880731 [GRCh38]
Chr10:122640243 [GRCh37]
Chr10:10q26.12
benign
NM_018117.12(WDR11):c.86+28A>G single nucleotide variant not provided [RCV001588775] Chr10:120851534 [GRCh38]
Chr10:122611046 [GRCh37]
Chr10:10q26.12
likely benign
NM_018117.12(WDR11):c.-3G>A single nucleotide variant not provided [RCV001534045] Chr10:120851418 [GRCh38]
Chr10:122610930 [GRCh37]
Chr10:10q26.12
benign
NM_018117.12(WDR11):c.1556+276_1556+285del deletion not provided [RCV001710264] Chr10:120874199..120874208 [GRCh38]
Chr10:122633711..122633720 [GRCh37]
Chr10:10q26.12
benign
NM_018117.12(WDR11):c.1973+262G>A single nucleotide variant not provided [RCV001696308] Chr10:120886200 [GRCh38]
Chr10:122645712 [GRCh37]
Chr10:10q26.12
benign
NM_018117.12(WDR11):c.880-107A>G single nucleotide variant not provided [RCV001614056] Chr10:120865523 [GRCh38]
Chr10:122625035 [GRCh37]
Chr10:10q26.12
benign
NM_018117.12(WDR11):c.87-264A>T single nucleotide variant not provided [RCV001708743] Chr10:120852260 [GRCh38]
Chr10:122611772 [GRCh37]
Chr10:10q26.12
benign
NM_018117.12(WDR11):c.1974-32dup duplication not provided [RCV001646062] Chr10:120886648..120886649 [GRCh38]
Chr10:122646160..122646161 [GRCh37]
Chr10:10q26.12
benign
NC_000010.11:g.120850918C>T single nucleotide variant not provided [RCV001584681] Chr10:120850918 [GRCh38]
Chr10:122610430 [GRCh37]
Chr10:10q26.12
likely benign
NM_018117.12(WDR11):c.1663+102T>A single nucleotide variant not provided [RCV001662957] Chr10:120878561 [GRCh38]
Chr10:122638073 [GRCh37]
Chr10:10q26.12
benign
NM_018117.12(WDR11):c.1557-288C>A single nucleotide variant not provided [RCV001695894] Chr10:120878065 [GRCh38]
Chr10:122637577 [GRCh37]
Chr10:10q26.12
benign
NM_018117.12(WDR11):c.2515+256A>C single nucleotide variant not provided [RCV001666402] Chr10:120891143 [GRCh38]
Chr10:122650655 [GRCh37]
Chr10:10q26.12
benign
NM_018117.12(WDR11):c.2228+337G>T single nucleotide variant not provided [RCV001679324] Chr10:120889521 [GRCh38]
Chr10:122649033 [GRCh37]
Chr10:10q26.12
benign
NM_018117.12(WDR11):c.1849-236G>A single nucleotide variant not provided [RCV001680479] Chr10:120885578 [GRCh38]
Chr10:122645090 [GRCh37]
Chr10:10q26.12
benign
NM_018117.12(WDR11):c.2931+291del deletion not provided [RCV001679597] Chr10:120903511 [GRCh38]
Chr10:122663023 [GRCh37]
Chr10:10q26.12
benign
NM_018117.12(WDR11):c.199-7G>C single nucleotide variant Hypogonadotropic hypogonadism 14 with or without anosmia [RCV002243384]|not provided [RCV001671580] Chr10:120858636 [GRCh38]
Chr10:122618148 [GRCh37]
Chr10:10q26.12
benign
NM_018117.12(WDR11):c.1556+270_1556+285del deletion not provided [RCV001582330] Chr10:120874193..120874208 [GRCh38]
Chr10:122633705..122633720 [GRCh37]
Chr10:10q26.12
likely benign
NM_018117.12(WDR11):c.527-126A>C single nucleotide variant not provided [RCV001666641] Chr10:120862609 [GRCh38]
Chr10:122622121 [GRCh37]
Chr10:10q26.12
benign
NM_018117.12(WDR11):c.2931+1G>A single nucleotide variant Intellectual developmental disorder, autosomal recessive 78 [RCV003152628]|Microcephaly [RCV001647287] Chr10:120903233 [GRCh38]
Chr10:122662745 [GRCh37]
Chr10:10q26.12
pathogenic
NM_018117.12(WDR11):c.373C>T (p.Gln125Ter) single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV001197338] Chr10:120860129 [GRCh38]
Chr10:122619641 [GRCh37]
Chr10:10q26.12
uncertain significance
NM_018117.12(WDR11):c.3141dup (p.Ser1048fs) duplication WDR11-related disorder [RCV004699049] Chr10:120904758..120904759 [GRCh38]
Chr10:122664270..122664271 [GRCh37]
Chr10:10q26.12
likely pathogenic
GRCh37/hg19 10q25.3-26.3(chr10:118247181-135435319)x3 copy number gain not provided [RCV001537903] Chr10:118247181..135435319 [GRCh37]
Chr10:10q25.3-26.3
pathogenic
NM_018117.12(WDR11):c.2121+86C>G single nucleotide variant not provided [RCV001527734] Chr10:120886922 [GRCh38]
Chr10:122646434 [GRCh37]
Chr10:10q26.12
likely benign
NM_018117.12(WDR11):c.1556+270_1556+282del deletion not provided [RCV001580801] Chr10:120874193..120874205 [GRCh38]
Chr10:122633705..122633717 [GRCh37]
Chr10:10q26.12
likely benign
NM_018117.12(WDR11):c.2624+270G>A single nucleotide variant not provided [RCV001536447] Chr10:120900407 [GRCh38]
Chr10:122659919 [GRCh37]
Chr10:10q26.12
benign
NM_018117.12(WDR11):c.3518-215T>C single nucleotide variant not provided [RCV001581232] Chr10:120908341 [GRCh38]
Chr10:122667853 [GRCh37]
Chr10:10q26.12
likely benign
Single allele deletion not provided [RCV001391678] Chr10:119302758..124813305 [GRCh37]
Chr10:10q26.11-26.13
likely pathogenic
NM_018117.12(WDR11):c.1473T>C (p.Gly491=) single nucleotide variant not provided [RCV001786839] Chr10:120873840 [GRCh38]
Chr10:122633352 [GRCh37]
Chr10:10q26.12
uncertain significance
NM_018117.12(WDR11):c.352+253A>G single nucleotide variant not provided [RCV001536439] Chr10:120859049 [GRCh38]
Chr10:122618561 [GRCh37]
Chr10:10q26.12
benign
NM_018117.12(WDR11):c.1556+270G>T single nucleotide variant not provided [RCV001608986] Chr10:120874193 [GRCh38]
Chr10:122633705 [GRCh37]
Chr10:10q26.12
benign
NM_018117.12(WDR11):c.644T>C (p.Leu215Pro) single nucleotide variant not provided [RCV001354215] Chr10:120862852 [GRCh38]
Chr10:122622364 [GRCh37]
Chr10:10q26.12
uncertain significance
NM_018117.12(WDR11):c.1973+74G>A single nucleotide variant not provided [RCV001539203] Chr10:120886012 [GRCh38]
Chr10:122645524 [GRCh37]
Chr10:10q26.12
likely benign
NM_018117.12(WDR11):c.1739+252T>C single nucleotide variant not provided [RCV001540628] Chr10:120881153 [GRCh38]
Chr10:122640665 [GRCh37]
Chr10:10q26.12
likely benign
NM_018117.12(WDR11):c.1974-214C>G single nucleotide variant not provided [RCV001534058] Chr10:120886475 [GRCh38]
Chr10:122645987 [GRCh37]
Chr10:10q26.12
benign
NM_018117.12(WDR11):c.1471+247C>T single nucleotide variant not provided [RCV001534392] Chr10:120871593 [GRCh38]
Chr10:122631105 [GRCh37]
Chr10:10q26.12
likely benign
NM_018117.12(WDR11):c.2932-238G>A single nucleotide variant not provided [RCV001648604] Chr10:120903809 [GRCh38]
Chr10:122663321 [GRCh37]
Chr10:10q26.12
benign
NC_000010.11:g.120851270A>G single nucleotide variant not provided [RCV001612720] Chr10:120851270 [GRCh38]
Chr10:122610782 [GRCh37]
Chr10:10q26.12
benign
NM_018117.12(WDR11):c.995-43C>T single nucleotide variant Hypogonadotropic hypogonadism 14 with or without anosmia [RCV002243446]|not provided [RCV001717176] Chr10:120866526 [GRCh38]
Chr10:122626038 [GRCh37]
Chr10:10q26.12
benign
NM_018117.12(WDR11):c.3028-232del deletion not provided [RCV001717179] Chr10:120904414 [GRCh38]
Chr10:122663926 [GRCh37]
Chr10:10q26.12
benign
NM_018117.12(WDR11):c.353-154AC[10] microsatellite not provided [RCV001717180] Chr10:120859955..120859958 [GRCh38]
Chr10:122619467..122619470 [GRCh37]
Chr10:10q26.12
benign
NM_018117.12(WDR11):c.1471+209G>A single nucleotide variant not provided [RCV001717185] Chr10:120871555 [GRCh38]
Chr10:122631067 [GRCh37]
Chr10:10q26.12
benign
NM_018117.12(WDR11):c.2958G>A (p.Leu986=) single nucleotide variant Hypogonadotropic hypogonadism 14 with or without anosmia [RCV002243449]|not provided [RCV001717186] Chr10:120904073 [GRCh38]
Chr10:122663585 [GRCh37]
Chr10:10q26.12
benign
NM_018117.12(WDR11):c.3194-137G>A single nucleotide variant not provided [RCV001717187] Chr10:120905182 [GRCh38]
Chr10:122664694 [GRCh37]
Chr10:10q26.12
benign
NM_018117.12(WDR11):c.2121+218T>C single nucleotide variant not provided [RCV001717191] Chr10:120887054 [GRCh38]
Chr10:122646566 [GRCh37]
Chr10:10q26.12
benign
NM_018117.12(WDR11):c.198+323G>A single nucleotide variant not provided [RCV001684096] Chr10:120852958 [GRCh38]
Chr10:122612470 [GRCh37]
Chr10:10q26.12
benign
NM_018117.12(WDR11):c.2515+233_2515+234dup duplication not provided [RCV001654700] Chr10:120891117..120891118 [GRCh38]
Chr10:122650629..122650630 [GRCh37]
Chr10:10q26.12
benign
NM_018117.12(WDR11):c.1556+279G>T single nucleotide variant not provided [RCV001614922] Chr10:120874202 [GRCh38]
Chr10:122633714 [GRCh37]
Chr10:10q26.12
benign
NM_018117.12(WDR11):c.1556+270del deletion not provided [RCV001617895] Chr10:120874193 [GRCh38]
Chr10:122633705 [GRCh37]
Chr10:10q26.12
benign
NC_000010.11:g.120851134A>C single nucleotide variant not provided [RCV001688599] Chr10:120851134 [GRCh38]
Chr10:122610646 [GRCh37]
Chr10:10q26.12
benign
NM_018117.12(WDR11):c.2343+148A>C single nucleotide variant not provided [RCV001645857] Chr10:120890157 [GRCh38]
Chr10:122649669 [GRCh37]
Chr10:10q26.12
benign
NM_018117.12(WDR11):c.1974-88C>T single nucleotide variant not provided [RCV001674217] Chr10:120886601 [GRCh38]
Chr10:122646113 [GRCh37]
Chr10:10q26.12
benign
NM_018117.12(WDR11):c.1556+276G>T single nucleotide variant not provided [RCV001647666] Chr10:120874199 [GRCh38]
Chr10:122633711 [GRCh37]
Chr10:10q26.12
benign
NM_018117.12(WDR11):c.714-289T>C single nucleotide variant not provided [RCV001672003] Chr10:120864758 [GRCh38]
Chr10:122624270 [GRCh37]
Chr10:10q26.12
benign
NM_018117.12(WDR11):c.1255C>T (p.Gln419Ter) single nucleotide variant Intellectual developmental disorder, autosomal recessive 78 [RCV003152627]|Microcephaly [RCV001647286] Chr10:120867130 [GRCh38]
Chr10:122626642 [GRCh37]
Chr10:10q26.12
pathogenic
NM_018117.12(WDR11):c.2122-280T>C single nucleotide variant not provided [RCV001670602] Chr10:120888798 [GRCh38]
Chr10:122648310 [GRCh37]
Chr10:10q26.12
benign
NM_018117.12(WDR11):c.526+83C>T single nucleotide variant not provided [RCV001652330] Chr10:120860365 [GRCh38]
Chr10:122619877 [GRCh37]
Chr10:10q26.12
benign
NM_018117.12(WDR11):c.1557-226G>A single nucleotide variant not provided [RCV001612149] Chr10:120878127 [GRCh38]
Chr10:122637639 [GRCh37]
Chr10:10q26.12
benign
NM_018117.12(WDR11):c.1556+172C>G single nucleotide variant not provided [RCV001650086] Chr10:120874095 [GRCh38]
Chr10:122633607 [GRCh37]
Chr10:10q26.12
benign
NM_018117.12(WDR11):c.1973+199A>G single nucleotide variant not provided [RCV001610057] Chr10:120886137 [GRCh38]
Chr10:122645649 [GRCh37]
Chr10:10q26.12
benign
NM_018117.12(WDR11):c.1849-334C>G single nucleotide variant not provided [RCV001675108] Chr10:120885480 [GRCh38]
Chr10:122644992 [GRCh37]
Chr10:10q26.12
benign
NM_018117.12(WDR11):c.1556+289del deletion not provided [RCV001590264] Chr10:120874212 [GRCh38]
Chr10:122633724 [GRCh37]
Chr10:10q26.12
likely benign
NM_018117.12(WDR11):c.2343+179ATTT[6] microsatellite not provided [RCV001714620] Chr10:120890188..120890191 [GRCh38]
Chr10:122649700..122649703 [GRCh37]
Chr10:10q26.12
benign
NM_018117.12(WDR11):c.2687+277G>T single nucleotide variant not provided [RCV001540023] Chr10:120901375 [GRCh38]
Chr10:122660887 [GRCh37]
Chr10:10q26.12
benign
NM_018117.12(WDR11):c.3553C>T (p.Arg1185Trp) single nucleotide variant Inborn genetic diseases [RCV004681238]|not provided [RCV001766964] Chr10:120908591 [GRCh38]
Chr10:122668103 [GRCh37]
Chr10:10q26.12
uncertain significance
NM_018117.12(WDR11):c.908T>C (p.Leu303Ser) single nucleotide variant not provided [RCV001765130] Chr10:120865658 [GRCh38]
Chr10:122625170 [GRCh37]
Chr10:10q26.12
uncertain significance
NM_018117.12(WDR11):c.2759A>G (p.Tyr920Cys) single nucleotide variant Inborn genetic diseases [RCV002539133]|not provided [RCV001767692] Chr10:120903060 [GRCh38]
Chr10:122662572 [GRCh37]
Chr10:10q26.12
uncertain significance
NM_018117.12(WDR11):c.3404G>A (p.Gly1135Asp) single nucleotide variant not provided [RCV001773838] Chr10:120905988 [GRCh38]
Chr10:122665500 [GRCh37]
Chr10:10q26.12
uncertain significance
NM_018117.12(WDR11):c.1708G>A (p.Ala570Thr) single nucleotide variant not provided [RCV001772415] Chr10:120880870 [GRCh38]
Chr10:122640382 [GRCh37]
Chr10:10q26.12
uncertain significance
NM_018117.12(WDR11):c.3530C>T (p.Thr1177Ile) single nucleotide variant not provided [RCV001763952] Chr10:120908568 [GRCh38]
Chr10:122668080 [GRCh37]
Chr10:10q26.12
uncertain significance
NM_018117.12(WDR11):c.3120C>T (p.Val1040=) single nucleotide variant not provided [RCV001754600] Chr10:120904738 [GRCh38]
Chr10:122664250 [GRCh37]
Chr10:10q26.12
uncertain significance
NM_018117.12(WDR11):c.2470T>G (p.Ser824Ala) single nucleotide variant not provided [RCV001752680] Chr10:120890842 [GRCh38]
Chr10:122650354 [GRCh37]
Chr10:10q26.12
uncertain significance
NM_018117.12(WDR11):c.488_491del (p.Ser163fs) microsatellite not provided [RCV001768642] Chr10:120860238..120860241 [GRCh38]
Chr10:122619750..122619753 [GRCh37]
Chr10:10q26.12
uncertain significance
NM_018117.12(WDR11):c.719A>G (p.Glu240Gly) single nucleotide variant not provided [RCV001770850] Chr10:120865052 [GRCh38]
Chr10:122624564 [GRCh37]
Chr10:10q26.12
uncertain significance
NM_018117.12(WDR11):c.1342C>T (p.Arg448Trp) single nucleotide variant not provided [RCV001758323] Chr10:120871217 [GRCh38]
Chr10:122630729 [GRCh37]
Chr10:10q26.12
uncertain significance
NM_018117.12(WDR11):c.879+153dup duplication not provided [RCV001779754] Chr10:120865357..120865358 [GRCh38]
Chr10:122624869..122624870 [GRCh37]
Chr10:10q26.12
benign
NM_018117.12(WDR11):c.1583_1584delinsC (p.Ser528fs) indel not provided [RCV001761082] Chr10:120878379..120878380 [GRCh38]
Chr10:122637891..122637892 [GRCh37]
Chr10:10q26.12
uncertain significance
NM_018117.12(WDR11):c.76G>A (p.Ala26Thr) single nucleotide variant not specified [RCV001820349] Chr10:120851496 [GRCh38]
Chr10:122611008 [GRCh37]
Chr10:10q26.12
uncertain significance
NM_018117.12(WDR11):c.1336A>G (p.Ile446Val) single nucleotide variant not provided [RCV002008579] Chr10:120871211 [GRCh38]
Chr10:122630723 [GRCh37]
Chr10:10q26.12
uncertain significance
GRCh37/hg19 10q26.12-26.3(chr10:122343861-135427143) copy number loss not specified [RCV002052895] Chr10:122343861..135427143 [GRCh37]
Chr10:10q26.12-26.3
pathogenic
NM_018117.12(WDR11):c.7C>T (p.Pro3Ser) single nucleotide variant Inborn genetic diseases [RCV002608035]|not provided [RCV001986053] Chr10:120851427 [GRCh38]
Chr10:122610939 [GRCh37]
Chr10:10q26.12
uncertain significance
GRCh37/hg19 10q26.12(chr10:122366341-122639170)x3 copy number gain not provided [RCV001827946] Chr10:122366341..122639170 [GRCh37]
Chr10:10q26.12
uncertain significance
NM_018117.12(WDR11):c.16G>A (p.Val6Met) single nucleotide variant Amenorrhea [RCV001849756] Chr10:120851436 [GRCh38]
Chr10:122610948 [GRCh37]
Chr10:10q26.12
uncertain significance
GRCh37/hg19 10q25.3-26.13(chr10:117019650-125217066) copy number loss not specified [RCV002052892] Chr10:117019650..125217066 [GRCh37]
Chr10:10q25.3-26.13
pathogenic
GRCh37/hg19 10q26.11-26.13(chr10:120782191-123155522) copy number gain not specified [RCV002052893] Chr10:120782191..123155522 [GRCh37]
Chr10:10q26.11-26.13
uncertain significance
GRCh37/hg19 10q26.12-26.3(chr10:122125760-135062972) copy number gain not specified [RCV002052894] Chr10:122125760..135062972 [GRCh37]
Chr10:10q26.12-26.3
likely pathogenic
GRCh37/hg19 10q25.1-26.3(chr10:108455687-135427143) copy number gain not specified [RCV002052891] Chr10:108455687..135427143 [GRCh37]
Chr10:10q25.1-26.3
pathogenic
NM_018117.12(WDR11):c.3262G>A (p.Glu1088Lys) single nucleotide variant Inborn genetic diseases [RCV004044523]|not provided [RCV001997973] Chr10:120905387 [GRCh38]
Chr10:122664899 [GRCh37]
Chr10:10q26.12
uncertain significance
NM_018117.12(WDR11):c.1700A>G (p.Asp567Gly) single nucleotide variant not provided [RCV001942522] Chr10:120880862 [GRCh38]
Chr10:122640374 [GRCh37]
Chr10:10q26.12
uncertain significance
NM_018117.12(WDR11):c.3208C>T (p.Leu1070Phe) single nucleotide variant not provided [RCV001995856] Chr10:120905333 [GRCh38]
Chr10:122664845 [GRCh37]
Chr10:10q26.12
uncertain significance
NM_018117.12(WDR11):c.2305A>G (p.Met769Val) single nucleotide variant WDR11-related disorder [RCV004753472]|not provided [RCV002016521] Chr10:120889971 [GRCh38]
Chr10:122649483 [GRCh37]
Chr10:10q26.12
conflicting interpretations of pathogenicity|uncertain significance
NM_018117.12(WDR11):c.1739+20A>G single nucleotide variant not provided [RCV002112484] Chr10:120880921 [GRCh38]
Chr10:122640433 [GRCh37]
Chr10:10q26.12
benign
NM_018117.12(WDR11):c.1656T>C (p.Leu552=) single nucleotide variant not provided [RCV002185969] Chr10:120878452 [GRCh38]
Chr10:122637964 [GRCh37]
Chr10:10q26.12
likely benign
NM_018117.12(WDR11):c.1471+30dup duplication not provided [RCV002132292] Chr10:120871365..120871366 [GRCh38]
Chr10:122630877..122630878 [GRCh37]
Chr10:10q26.12
benign
NM_018117.12(WDR11):c.3194-15G>A single nucleotide variant not provided [RCV002153106] Chr10:120905304 [GRCh38]
Chr10:122664816 [GRCh37]
Chr10:10q26.12
benign
NM_018117.12(WDR11):c.1557-15C>T single nucleotide variant not provided [RCV002118481] Chr10:120878338 [GRCh38]
Chr10:122637850 [GRCh37]
Chr10:10q26.12
likely benign
NM_018117.12(WDR11):c.3187T>C (p.Leu1063=) single nucleotide variant not provided [RCV002082669] Chr10:120904805 [GRCh38]
Chr10:122664317 [GRCh37]
Chr10:10q26.12
likely benign
NM_018117.12(WDR11):c.515C>A (p.Ser172Ter) single nucleotide variant not provided [RCV004776893] Chr10:120860271 [GRCh38]
Chr10:122619783 [GRCh37]
Chr10:10q26.12
uncertain significance
NM_018117.12(WDR11):c.-4C>T single nucleotide variant not provided [RCV004787209] Chr10:120851417 [GRCh38]
Chr10:122610929 [GRCh37]
Chr10:10q26.12
uncertain significance
NM_018117.12(WDR11):c.163dup (p.Gln55fs) duplication Hypogonadotropic hypogonadism 14 with or without anosmia [RCV002251049] Chr10:120852599..120852600 [GRCh38]
Chr10:122612111..122612112 [GRCh37]
Chr10:10q26.12
likely pathogenic
NM_018117.12(WDR11):c.6G>T (p.Leu2Phe) single nucleotide variant Inborn genetic diseases [RCV004047394]|not provided [RCV002254097] Chr10:120851426 [GRCh38]
Chr10:122610938 [GRCh37]
Chr10:10q26.12
likely benign|uncertain significance
GRCh37/hg19 10q26.12-26.3(chr10:122610933-135439810)x1 copy number loss not provided [RCV003222684] Chr10:122610933..135439810 [GRCh37]
Chr10:10q26.12-26.3
pathogenic
NM_018117.12(WDR11):c.1508C>T (p.Thr503Ile) single nucleotide variant Inborn genetic diseases [RCV002902175] Chr10:120873875 [GRCh38]
Chr10:122633387 [GRCh37]
Chr10:10q26.12
uncertain significance
NM_018117.12(WDR11):c.2321C>T (p.Ala774Val) single nucleotide variant Hypogonadotropic hypogonadism 14 with or without anosmia [RCV002470625] Chr10:120889987 [GRCh38]
Chr10:122649499 [GRCh37]
Chr10:10q26.12
uncertain significance
NM_018117.12(WDR11):c.1280T>G (p.Leu427Ter) single nucleotide variant not provided [RCV002970629] Chr10:120867155 [GRCh38]
Chr10:122626667 [GRCh37]
Chr10:10q26.12
pathogenic
NM_018117.12(WDR11):c.1449G>C (p.Met483Ile) single nucleotide variant not provided [RCV002617328] Chr10:120871324 [GRCh38]
Chr10:122630836 [GRCh37]
Chr10:10q26.12
uncertain significance
NM_018117.12(WDR11):c.3011T>A (p.Leu1004Gln) single nucleotide variant Inborn genetic diseases [RCV002752843] Chr10:120904126 [GRCh38]
Chr10:122663638 [GRCh37]
Chr10:10q26.12
uncertain significance
NM_018117.12(WDR11):c.8C>G (p.Pro3Arg) single nucleotide variant not provided [RCV002975391] Chr10:120851428 [GRCh38]
Chr10:122610940 [GRCh37]
Chr10:10q26.12
uncertain significance
NM_018117.12(WDR11):c.346A>G (p.Ile116Val) single nucleotide variant Inborn genetic diseases [RCV002733097] Chr10:120858790 [GRCh38]
Chr10:122618302 [GRCh37]
Chr10:10q26.12
uncertain significance
NM_018117.12(WDR11):c.3292-1G>C single nucleotide variant not provided [RCV002825621] Chr10:120905875 [GRCh38]
Chr10:122665387 [GRCh37]
Chr10:10q26.12
likely pathogenic
NM_018117.12(WDR11):c.1153del (p.Leu385fs) deletion not provided [RCV003022054] Chr10:120866727 [GRCh38]
Chr10:122626239 [GRCh37]
Chr10:10q26.12
pathogenic
NM_018117.12(WDR11):c.2303_2304inv (p.Ala768Val) inversion not provided [RCV002705748]|not specified [RCV004690315] Chr10:120889969..120889970 [GRCh38]
Chr10:122649481..122649482 [GRCh37]
Chr10:10q26.12
likely benign
NM_018117.12(WDR11):c.3272G>A (p.Arg1091Gln) single nucleotide variant Inborn genetic diseases [RCV002926451] Chr10:120905397 [GRCh38]
Chr10:122664909 [GRCh37]
Chr10:10q26.12
uncertain significance
NM_018117.12(WDR11):c.394C>G (p.Leu132Val) single nucleotide variant Inborn genetic diseases [RCV003000962]|not provided [RCV003222476] Chr10:120860150 [GRCh38]
Chr10:122619662 [GRCh37]
Chr10:10q26.12
uncertain significance
NM_018117.12(WDR11):c.2416T>G (p.Ser806Ala) single nucleotide variant not provided [RCV002510030] Chr10:120890788 [GRCh38]
Chr10:122650300 [GRCh37]
Chr10:10q26.12
uncertain significance
NM_018117.12(WDR11):c.2600A>G (p.Gln867Arg) single nucleotide variant not provided [RCV002735472] Chr10:120900113 [GRCh38]
Chr10:122659625 [GRCh37]
Chr10:10q26.12
likely benign
NM_018117.12(WDR11):c.2921C>T (p.Ala974Val) single nucleotide variant Inborn genetic diseases [RCV004070624]|not provided [RCV002621014] Chr10:120903222 [GRCh38]
Chr10:122662734 [GRCh37]
Chr10:10q26.12
uncertain significance
NM_018117.12(WDR11):c.1079G>A (p.Ser360Asn) single nucleotide variant Hypogonadotropic hypogonadism 14 with or without anosmia [RCV002569460] Chr10:120866653 [GRCh38]
Chr10:122626165 [GRCh37]
Chr10:10q26.12
uncertain significance
NM_018117.12(WDR11):c.2890G>A (p.Asp964Asn) single nucleotide variant not provided [RCV002509929] Chr10:120903191 [GRCh38]
Chr10:122662703 [GRCh37]
Chr10:10q26.12
uncertain significance
NM_018117.12(WDR11):c.542G>C (p.Gly181Ala) single nucleotide variant Inborn genetic diseases [RCV002887979] Chr10:120862750 [GRCh38]
Chr10:122622262 [GRCh37]
Chr10:10q26.12
uncertain significance
NM_018117.12(WDR11):c.2534A>G (p.Tyr845Cys) single nucleotide variant Inborn genetic diseases [RCV002949942] Chr10:120900047 [GRCh38]
Chr10:122659559 [GRCh37]
Chr10:10q26.12
uncertain significance
NM_018117.12(WDR11):c.1663+19A>C single nucleotide variant not provided [RCV002570261] Chr10:120878478 [GRCh38]
Chr10:122637990 [GRCh37]
Chr10:10q26.12
likely benign
NM_018117.12(WDR11):c.229A>G (p.Asn77Asp) single nucleotide variant not provided [RCV002889350] Chr10:120858673 [GRCh38]
Chr10:122618185 [GRCh37]
Chr10:10q26.12
uncertain significance
NM_018117.12(WDR11):c.1294+12T>C single nucleotide variant not provided [RCV002575248] Chr10:120867181 [GRCh38]
Chr10:122626693 [GRCh37]
Chr10:10q26.12
likely benign
NM_018117.12(WDR11):c.877C>G (p.Gln293Glu) single nucleotide variant Inborn genetic diseases [RCV002744404] Chr10:120865210 [GRCh38]
Chr10:122624722 [GRCh37]
Chr10:10q26.12
uncertain significance
NM_018117.12(WDR11):c.1175G>A (p.Arg392Gln) single nucleotide variant Inborn genetic diseases [RCV002956547] Chr10:120866749 [GRCh38]
Chr10:122626261 [GRCh37]
Chr10:10q26.12
uncertain significance
NM_018117.12(WDR11):c.1739+11A>C single nucleotide variant not provided [RCV002645806] Chr10:120880912 [GRCh38]
Chr10:122640424 [GRCh37]
Chr10:10q26.12
benign
NM_018117.12(WDR11):c.2798C>T (p.Ala933Val) single nucleotide variant Inborn genetic diseases [RCV002830292] Chr10:120903099 [GRCh38]
Chr10:122662611 [GRCh37]
Chr10:10q26.12
uncertain significance
NM_018117.12(WDR11):c.466A>T (p.Ser156Cys) single nucleotide variant Inborn genetic diseases [RCV002742929] Chr10:120860222 [GRCh38]
Chr10:122619734 [GRCh37]
Chr10:10q26.12
uncertain significance
NM_018117.12(WDR11):c.33G>C (p.Ser11=) single nucleotide variant not provided [RCV003058013] Chr10:120851453 [GRCh38]
Chr10:122610965 [GRCh37]
Chr10:10q26.12
likely benign
NM_018117.12(WDR11):c.1664-19T>A single nucleotide variant not provided [RCV002572597] Chr10:120880807 [GRCh38]
Chr10:122640319 [GRCh37]
Chr10:10q26.12
likely benign
NM_018117.12(WDR11):c.3486G>C (p.Lys1162Asn) single nucleotide variant Inborn genetic diseases [RCV002788189] Chr10:120906824 [GRCh38]
Chr10:122666336 [GRCh37]
Chr10:10q26.12
uncertain significance
NM_018117.12(WDR11):c.403A>G (p.Ile135Val) single nucleotide variant not provided [RCV002766126] Chr10:120860159 [GRCh38]
Chr10:122619671 [GRCh37]
Chr10:10q26.12
uncertain significance
NM_018117.12(WDR11):c.2884C>G (p.Pro962Ala) single nucleotide variant Inborn genetic diseases [RCV002891953] Chr10:120903185 [GRCh38]
Chr10:122662697 [GRCh37]
Chr10:10q26.12
uncertain significance
NM_018117.12(WDR11):c.1926C>T (p.Thr642=) single nucleotide variant not provided [RCV002643380] Chr10:120885891 [GRCh38]
Chr10:122645403 [GRCh37]
Chr10:10q26.12
likely benign
NM_018117.12(WDR11):c.2246G>A (p.Arg749Gln) single nucleotide variant Inborn genetic diseases [RCV002931052] Chr10:120889912 [GRCh38]
Chr10:122649424 [GRCh37]
Chr10:10q26.12
uncertain significance
NM_018117.12(WDR11):c.2797G>T (p.Ala933Ser) single nucleotide variant Inborn genetic diseases [RCV002826495] Chr10:120903098 [GRCh38]
Chr10:122662610 [GRCh37]
Chr10:10q26.12
uncertain significance
NM_018117.12(WDR11):c.109T>C (p.Tyr37His) single nucleotide variant not provided [RCV003047452] Chr10:120852546 [GRCh38]
Chr10:122612058 [GRCh37]
Chr10:10q26.12
uncertain significance
NM_018117.12(WDR11):c.2714C>T (p.Pro905Leu) single nucleotide variant not provided [RCV003030250] Chr10:120902283 [GRCh38]
Chr10:122661795 [GRCh37]
Chr10:10q26.12
uncertain significance
NM_018117.12(WDR11):c.254G>C (p.Arg85Pro) single nucleotide variant Inborn genetic diseases [RCV002747271] Chr10:120858698 [GRCh38]
Chr10:122618210 [GRCh37]
Chr10:10q26.12
uncertain significance
NM_018117.12(WDR11):c.1411C>T (p.Arg471Cys) single nucleotide variant Inborn genetic diseases [RCV003250549]|not provided [RCV002649380] Chr10:120871286 [GRCh38]
Chr10:122630798 [GRCh37]
Chr10:10q26.12
uncertain significance
NM_018117.12(WDR11):c.1851G>A (p.Glu617=) single nucleotide variant not provided [RCV002672138] Chr10:120885816 [GRCh38]
Chr10:122645328 [GRCh37]
Chr10:10q26.12
likely benign
NM_018117.12(WDR11):c.857G>A (p.Arg286His) single nucleotide variant Inborn genetic diseases [RCV002831805] Chr10:120865190 [GRCh38]
Chr10:122624702 [GRCh37]
Chr10:10q26.12
uncertain significance
NM_018117.12(WDR11):c.1390C>G (p.Pro464Ala) single nucleotide variant Inborn genetic diseases [RCV002669923] Chr10:120871265 [GRCh38]
Chr10:122630777 [GRCh37]
Chr10:10q26.12
uncertain significance
NM_018117.12(WDR11):c.1376T>A (p.Leu459Gln) single nucleotide variant not provided [RCV002601910] Chr10:120871251 [GRCh38]
Chr10:122630763 [GRCh37]
Chr10:10q26.12
uncertain significance
NM_018117.12(WDR11):c.849A>G (p.Ala283=) single nucleotide variant not provided [RCV002650072] Chr10:120865182 [GRCh38]
Chr10:122624694 [GRCh37]
Chr10:10q26.12
likely benign
NM_018117.12(WDR11):c.3518-9A>G single nucleotide variant not provided [RCV002582923] Chr10:120908547 [GRCh38]
Chr10:122668059 [GRCh37]
Chr10:10q26.12
likely benign
NM_018117.12(WDR11):c.1471+19C>T single nucleotide variant not provided [RCV002582988] Chr10:120871365 [GRCh38]
Chr10:122630877 [GRCh37]
Chr10:10q26.12
likely benign
NM_018117.12(WDR11):c.2516-14T>C single nucleotide variant not provided [RCV002814589] Chr10:120900015 [GRCh38]
Chr10:122659527 [GRCh37]
Chr10:10q26.12
likely benign
NM_018117.12(WDR11):c.3429G>A (p.Thr1143=) single nucleotide variant not provided [RCV002605291] Chr10:120906013 [GRCh38]
Chr10:122665525 [GRCh37]
Chr10:10q26.12
likely benign
NM_018117.12(WDR11):c.2264T>C (p.Ile755Thr) single nucleotide variant Inborn genetic diseases [RCV002679356] Chr10:120889930 [GRCh38]
Chr10:122649442 [GRCh37]
Chr10:10q26.12
uncertain significance
NM_018117.12(WDR11):c.289G>A (p.Val97Ile) single nucleotide variant not provided [RCV002636008] Chr10:120858733 [GRCh38]
Chr10:122618245 [GRCh37]
Chr10:10q26.12
uncertain significance
NM_018117.12(WDR11):c.3304C>G (p.Pro1102Ala) single nucleotide variant not provided [RCV002586758] Chr10:120905888 [GRCh38]
Chr10:122665400 [GRCh37]
Chr10:10q26.12
uncertain significance
NM_018117.12(WDR11):c.1619T>C (p.Met540Thr) single nucleotide variant not provided [RCV002589032] Chr10:120878415 [GRCh38]
Chr10:122637927 [GRCh37]
Chr10:10q26.12
uncertain significance
NM_018117.12(WDR11):c.1714G>A (p.Glu572Lys) single nucleotide variant Hypogonadotropic hypogonadism 14 with or without anosmia [RCV004788256] Chr10:120880876 [GRCh38]
Chr10:122640388 [GRCh37]
Chr10:10q26.12
uncertain significance
NM_018117.12(WDR11):c.2139T>G (p.Ile713Met) single nucleotide variant Inborn genetic diseases [RCV003216081] Chr10:120889095 [GRCh38]
Chr10:122648607 [GRCh37]
Chr10:10q26.12
uncertain significance
NM_018117.12(WDR11):c.1756G>A (p.Val586Ile) single nucleotide variant Inborn genetic diseases [RCV003207144] Chr10:120883796 [GRCh38]
Chr10:122643308 [GRCh37]
Chr10:10q26.12
uncertain significance
GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143) copy number gain Distal trisomy 10q [RCV003319593] Chr10:11138692..135427143 [GRCh37]
Chr10:10p14-q26.3
pathogenic
GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143) copy number loss Distal 10q deletion syndrome [RCV003319583] Chr10:12829206..135427143 [GRCh37]
Chr10:10p13-q26.3
pathogenic
NM_018117.12(WDR11):c.2149G>A (p.Ala717Thr) single nucleotide variant Hypogonadotropic hypogonadism 14 with or without anosmia [RCV003337977] Chr10:120889105 [GRCh38]
Chr10:122648617 [GRCh37]
Chr10:10q26.12
uncertain significance
NM_018117.12(WDR11):c.3050T>A (p.Leu1017Gln) single nucleotide variant Hypogonadotropic hypogonadism 14 with or without anosmia [RCV003336640] Chr10:120904668 [GRCh38]
Chr10:122664180 [GRCh37]
Chr10:10q26.12
uncertain significance
NM_018117.12(WDR11):c.1832C>T (p.Pro611Leu) single nucleotide variant Inborn genetic diseases [RCV003357870] Chr10:120883872 [GRCh38]
Chr10:122643384 [GRCh37]
Chr10:10q26.12
uncertain significance
NM_018117.12(WDR11):c.3488A>G (p.Tyr1163Cys) single nucleotide variant Inborn genetic diseases [RCV003343346] Chr10:120906826 [GRCh38]
Chr10:122666338 [GRCh37]
Chr10:10q26.12
uncertain significance
NM_018117.12(WDR11):c.3209T>C (p.Leu1070Pro) single nucleotide variant not provided [RCV003332705] Chr10:120905334 [GRCh38]
Chr10:122664846 [GRCh37]
Chr10:10q26.12
uncertain significance
NM_018117.12(WDR11):c.1649T>C (p.Val550Ala) single nucleotide variant Inborn genetic diseases [RCV003363194] Chr10:120878445 [GRCh38]
Chr10:122637957 [GRCh37]
Chr10:10q26.12
uncertain significance
NM_018117.12(WDR11):c.2578T>A (p.Leu860Ile) single nucleotide variant Inborn genetic diseases [RCV003385205] Chr10:120900091 [GRCh38]
Chr10:122659603 [GRCh37]
Chr10:10q26.12
uncertain significance
NM_018117.12(WDR11):c.2026C>T (p.Arg676Trp) single nucleotide variant Inborn genetic diseases [RCV003372151] Chr10:120886741 [GRCh38]
Chr10:122646253 [GRCh37]
Chr10:10q26.12
uncertain significance
GRCh37/hg19 10q25.1-26.3(chr10:111378692-135427143)x3 copy number gain Distal trisomy 10q [RCV003458955] Chr10:111378692..135427143 [GRCh37]
Chr10:10q25.1-26.3
pathogenic
NM_018117.12(WDR11):c.2828A>T (p.Lys943Met) single nucleotide variant not provided [RCV003543102] Chr10:120903129 [GRCh38]
Chr10:122662641 [GRCh37]
Chr10:10q26.12
uncertain significance
NM_018117.12(WDR11):c.3607G>A (p.Ala1203Thr) single nucleotide variant WDR11-related disorder [RCV003419081]|not specified [RCV004526254] Chr10:120908645 [GRCh38]
Chr10:122668157 [GRCh37]
Chr10:10q26.12
uncertain significance
NM_018117.12(WDR11):c.498T>G (p.Phe166Leu) single nucleotide variant not provided [RCV003443601] Chr10:120860254 [GRCh38]
Chr10:122619766 [GRCh37]
Chr10:10q26.12
uncertain significance
GRCh37/hg19 10q25.1-26.3(chr10:111447991-133435388)x3 copy number gain not provided [RCV003484817] Chr10:111447991..133435388 [GRCh37]
Chr10:10q25.1-26.3
pathogenic
GRCh37/hg19 10q26.12(chr10:122438141-122802506)x3 copy number gain not provided [RCV003484819] Chr10:122438141..122802506 [GRCh37]
Chr10:10q26.12
uncertain significance
GRCh37/hg19 10q26.12(chr10:122658596-123040478)x3 copy number gain not provided [RCV003484820] Chr10:122658596..123040478 [GRCh37]
Chr10:10q26.12
uncertain significance
NM_018117.12(WDR11):c.3571G>A (p.Gly1191Ser) single nucleotide variant not provided [RCV003456607] Chr10:120908609 [GRCh38]
Chr10:122668121 [GRCh37]
Chr10:10q26.12
uncertain significance
NM_018117.12(WDR11):c.3331C>T (p.Arg1111Trp) single nucleotide variant WDR11-related disorder [RCV003402365] Chr10:120905915 [GRCh38]
Chr10:122665427 [GRCh37]
Chr10:10q26.12
uncertain significance
NM_018117.12(WDR11):c.926A>G (p.Asn309Ser) single nucleotide variant not provided [RCV003456608] Chr10:120865676 [GRCh38]
Chr10:122625188 [GRCh37]
Chr10:10q26.12
uncertain significance
NM_018117.12(WDR11):c.756C>A (p.Tyr252Ter) single nucleotide variant not provided [RCV003394527] Chr10:120865089 [GRCh38]
Chr10:122624601 [GRCh37]
Chr10:10q26.12
uncertain significance
NM_018117.12(WDR11):c.352+1G>A single nucleotide variant WDR11-related disorder [RCV003404608] Chr10:120858797 [GRCh38]
Chr10:122618309 [GRCh37]
Chr10:10q26.12
likely pathogenic
NM_018117.12(WDR11):c.2144G>C (p.Cys715Ser) single nucleotide variant not specified [RCV003404886] Chr10:120889100 [GRCh38]
Chr10:122648612 [GRCh37]
Chr10:10q26.12
uncertain significance
NM_018117.12(WDR11):c.8C>T (p.Pro3Leu) single nucleotide variant WDR11-related disorder [RCV003427943] Chr10:120851428 [GRCh38]
Chr10:122610940 [GRCh37]
Chr10:10q26.12
uncertain significance
NM_018117.12(WDR11):c.1563T>C (p.Ile521=) single nucleotide variant not provided [RCV003573843] Chr10:120878359 [GRCh38]
Chr10:122637871 [GRCh37]
Chr10:10q26.12
likely benign
NM_018117.12(WDR11):c.2867G>A (p.Arg956Gln) single nucleotide variant WDR11-related disorder [RCV003966573]|not provided [RCV003693339] Chr10:120903168 [GRCh38]
Chr10:122662680 [GRCh37]
Chr10:10q26.12
likely benign
NM_018117.12(WDR11):c.3292-11G>A single nucleotide variant not provided [RCV003881755] Chr10:120905865 [GRCh38]
Chr10:122665377 [GRCh37]
Chr10:10q26.12
likely benign
NM_018117.12(WDR11):c.880-12A>G single nucleotide variant not provided [RCV003880352] Chr10:120865618 [GRCh38]
Chr10:122625130 [GRCh37]
Chr10:10q26.12
benign
NM_018117.12(WDR11):c.2306T>G (p.Met769Arg) single nucleotide variant not provided [RCV003825076] Chr10:120889972 [GRCh38]
Chr10:122649484 [GRCh37]
Chr10:10q26.12
uncertain significance
NM_018117.12(WDR11):c.1664-16A>G single nucleotide variant not provided [RCV003688819] Chr10:120880810 [GRCh38]
Chr10:122640322 [GRCh37]
Chr10:10q26.12
uncertain significance
NM_018117.12(WDR11):c.3292-12C>T single nucleotide variant not provided [RCV003882629] Chr10:120905864 [GRCh38]
Chr10:122665376 [GRCh37]
Chr10:10q26.12
likely benign
NM_018117.12(WDR11):c.2688-16C>T single nucleotide variant not provided [RCV003877493] Chr10:120902241 [GRCh38]
Chr10:122661753 [GRCh37]
Chr10:10q26.12
benign
NM_018117.12(WDR11):c.2104G>A (p.Ala702Thr) single nucleotide variant not provided [RCV003548066] Chr10:120886819 [GRCh38]
Chr10:122646331 [GRCh37]
Chr10:10q26.12
uncertain significance
NM_018117.12(WDR11):c.2930A>G (p.Gln977Arg) single nucleotide variant not provided [RCV004811986] Chr10:120903231 [GRCh38]
Chr10:122662743 [GRCh37]
Chr10:10q26.12
uncertain significance
NM_018117.12(WDR11):c.899G>A (p.Arg300His) single nucleotide variant not provided [RCV003811451] Chr10:120865649 [GRCh38]
Chr10:122625161 [GRCh37]
Chr10:10q26.12
uncertain significance
NM_018117.12(WDR11):c.440A>G (p.Asp147Gly) single nucleotide variant not provided [RCV003701216] Chr10:120860196 [GRCh38]
Chr10:122619708 [GRCh37]
Chr10:10q26.12
uncertain significance
NM_018117.12(WDR11):c.3291A>G (p.Lys1097=) single nucleotide variant not provided [RCV003559413] Chr10:120905416 [GRCh38]
Chr10:122664928 [GRCh37]
Chr10:10q26.12
uncertain significance
NM_018117.12(WDR11):c.1319A>T (p.Glu440Val) single nucleotide variant Inborn genetic diseases [RCV004676296]|not provided [RCV003814666] Chr10:120871194 [GRCh38]
Chr10:122630706 [GRCh37]
Chr10:10q26.12
uncertain significance
NM_018117.12(WDR11):c.65A>C (p.His22Pro) single nucleotide variant not provided [RCV003855302] Chr10:120851485 [GRCh38]
Chr10:122610997 [GRCh37]
Chr10:10q26.12
uncertain significance
NM_018117.12(WDR11):c.59A>G (p.Asn20Ser) single nucleotide variant not provided [RCV003580887] Chr10:120851479 [GRCh38]
Chr10:122610991 [GRCh37]
Chr10:10q26.12
uncertain significance
NM_018117.12(WDR11):c.3537A>T (p.Ile1179=) single nucleotide variant not provided [RCV003700267] Chr10:120908575 [GRCh38]
Chr10:122668087 [GRCh37]
Chr10:10q26.12
likely benign
NM_018117.12(WDR11):c.2198A>G (p.Asn733Ser) single nucleotide variant not provided [RCV003731447] Chr10:120889154 [GRCh38]
Chr10:122648666 [GRCh37]
Chr10:10q26.12
uncertain significance
NM_018117.12(WDR11):c.734A>G (p.Asn245Ser) single nucleotide variant not provided [RCV003859879] Chr10:120865067 [GRCh38]
Chr10:122624579 [GRCh37]
Chr10:10q26.12
uncertain significance
NM_018117.12(WDR11):c.1472-18A>C single nucleotide variant not provided [RCV003818178] Chr10:120873821 [GRCh38]
Chr10:122633333 [GRCh37]
Chr10:10q26.12
benign
NM_018117.12(WDR11):c.172G>A (p.Glu58Lys) single nucleotide variant not provided [RCV003562243] Chr10:120852609 [GRCh38]
Chr10:122612121 [GRCh37]
Chr10:10q26.12
uncertain significance
NM_018117.12(WDR11):c.2624+16T>C single nucleotide variant not provided [RCV003869353] Chr10:120900153 [GRCh38]
Chr10:122659665 [GRCh37]
Chr10:10q26.12
likely benign
NM_018117.12(WDR11):c.2271T>C (p.Phe757=) single nucleotide variant not provided [RCV003846319] Chr10:120889937 [GRCh38]
Chr10:122649449 [GRCh37]
Chr10:10q26.12
likely benign
NM_018117.12(WDR11):c.919C>T (p.His307Tyr) single nucleotide variant not provided [RCV003722743] Chr10:120865669 [GRCh38]
Chr10:122625181 [GRCh37]
Chr10:10q26.12
uncertain significance
GRCh37/hg19 10q25.1-26.13(chr10:107129993-123817654)x3 copy number gain not specified [RCV003986891] Chr10:107129993..123817654 [GRCh37]
Chr10:10q25.1-26.13
likely pathogenic
NM_018117.12(WDR11):c.1138G>A (p.Val380Ile) single nucleotide variant Inborn genetic diseases [RCV004366792]|not provided [RCV003820847] Chr10:120866712 [GRCh38]
Chr10:122626224 [GRCh37]
Chr10:10q26.12
conflicting interpretations of pathogenicity|uncertain significance
NM_018117.12(WDR11):c.1739+21_1739+23del deletion not provided [RCV003853364] Chr10:120880916..120880918 [GRCh38]
Chr10:122640428..122640430 [GRCh37]
Chr10:10q26.12
likely benign
GRCh37/hg19 10q23.33-26.3(chr10:95078198-135427143)x3 copy number gain not specified [RCV003986893] Chr10:95078198..135427143 [GRCh37]
Chr10:10q23.33-26.3
pathogenic
NM_018117.12(WDR11):c.1497G>A (p.Val499=) single nucleotide variant WDR11-related disorder [RCV003966708]|not provided [RCV003843111] Chr10:120873864 [GRCh38]
Chr10:122633376 [GRCh37]
Chr10:10q26.12
likely benign
NM_018117.12(WDR11):c.739T>G (p.Cys247Gly) single nucleotide variant not provided [RCV003824376] Chr10:120865072 [GRCh38]
Chr10:122624584 [GRCh37]
Chr10:10q26.12
uncertain significance
NM_018117.12(WDR11):c.2986C>A (p.His996Asn) single nucleotide variant not provided [RCV003845811] Chr10:120904101 [GRCh38]
Chr10:122663613 [GRCh37]
Chr10:10q26.12
uncertain significance
NM_018117.12(WDR11):c.2390G>A (p.Arg797His) single nucleotide variant not provided [RCV003727519] Chr10:120890762 [GRCh38]
Chr10:122650274 [GRCh37]
Chr10:10q26.12
uncertain significance
NM_018117.12(WDR11):c.2793C>T (p.Val931=) single nucleotide variant not provided [RCV003731623] Chr10:120903094 [GRCh38]
Chr10:122662606 [GRCh37]
Chr10:10q26.12
likely benign
NM_018117.12(WDR11):c.2046C>T (p.Thr682=) single nucleotide variant WDR11-related disorder [RCV003979101] Chr10:120886761 [GRCh38]
Chr10:122646273 [GRCh37]
Chr10:10q26.12
likely benign
NM_018117.12(WDR11):c.859A>G (p.Thr287Ala) single nucleotide variant Hypogonadotropic hypogonadism 14 with or without anosmia [RCV003985192] Chr10:120865192 [GRCh38]
Chr10:122624704 [GRCh37]
Chr10:10q26.12
uncertain significance
GRCh37/hg19 10q26.12-26.3(chr10:122331280-135426386)x1 copy number loss not provided [RCV004442821] Chr10:122331280..135426386 [GRCh37]
Chr10:10q26.12-26.3
pathogenic
NM_018117.12(WDR11):c.3258C>T (p.Tyr1086=) single nucleotide variant WDR11-related disorder [RCV003902003] Chr10:120905383 [GRCh38]
Chr10:122664895 [GRCh37]
Chr10:10q26.12
likely benign
NM_018117.12(WDR11):c.3173T>C (p.Ile1058Thr) single nucleotide variant not provided [RCV003887751] Chr10:120904791 [GRCh38]
Chr10:122664303 [GRCh37]
Chr10:10q26.12
uncertain significance
NM_018117.12(WDR11):c.308G>A (p.Gly103Glu) single nucleotide variant Inborn genetic diseases [RCV004478190] Chr10:120858752 [GRCh38]
Chr10:122618264 [GRCh37]
Chr10:10q26.12
uncertain significance
NM_018117.12(WDR11):c.3152A>G (p.Lys1051Arg) single nucleotide variant Inborn genetic diseases [RCV004478191] Chr10:120904770 [GRCh38]
Chr10:122664282 [GRCh37]
Chr10:10q26.12
uncertain significance
NM_018117.12(WDR11):c.344C>G (p.Pro115Arg) single nucleotide variant Inborn genetic diseases [RCV004478192] Chr10:120858788 [GRCh38]
Chr10:122618300 [GRCh37]
Chr10:10q26.12
uncertain significance
NM_018117.12(WDR11):c.770G>C (p.Arg257Thr) single nucleotide variant Inborn genetic diseases [RCV004478193] Chr10:120865103 [GRCh38]
Chr10:122624615 [GRCh37]
Chr10:10q26.12
uncertain significance
NM_018117.12(WDR11):c.833C>T (p.Thr278Met) single nucleotide variant Inborn genetic diseases [RCV004478194] Chr10:120865166 [GRCh38]
Chr10:122624678 [GRCh37]
Chr10:10q26.12
uncertain significance
NM_018117.12(WDR11):c.869C>A (p.Pro290Gln) single nucleotide variant Inborn genetic diseases [RCV004478195] Chr10:120865202 [GRCh38]
Chr10:122624714 [GRCh37]
Chr10:10q26.12
uncertain significance
NM_018117.12(WDR11):c.985G>A (p.Glu329Lys) single nucleotide variant not provided [RCV004590727] Chr10:120865735 [GRCh38]
Chr10:122625247 [GRCh37]
Chr10:10q26.12
uncertain significance
NM_018117.12(WDR11):c.1704A>G (p.Glu568=) single nucleotide variant EBV-positive nodal T- and NK-cell lymphoma [RCV004558046] Chr10:120880866 [GRCh38]
Chr10:122640378 [GRCh37]
Chr10:10q26.12
likely benign
NM_018117.12(WDR11):c.1226C>G (p.Ser409Cys) single nucleotide variant Inborn genetic diseases [RCV004478185] Chr10:120867101 [GRCh38]
Chr10:122626613 [GRCh37]
Chr10:10q26.12
uncertain significance
NM_018117.12(WDR11):c.1288A>G (p.Met430Val) single nucleotide variant Inborn genetic diseases [RCV004478186] Chr10:120867163 [GRCh38]
Chr10:122626675 [GRCh37]
Chr10:10q26.12
uncertain significance
NM_018117.12(WDR11):c.2410T>C (p.Cys804Arg) single nucleotide variant Inborn genetic diseases [RCV004478187] Chr10:120890782 [GRCh38]
Chr10:122650294 [GRCh37]
Chr10:10q26.12
uncertain significance
NM_018117.12(WDR11):c.2716G>A (p.Glu906Lys) single nucleotide variant Inborn genetic diseases [RCV004478188] Chr10:120902285 [GRCh38]
Chr10:122661797 [GRCh37]
Chr10:10q26.12
uncertain significance
NM_018117.12(WDR11):c.3002C>T (p.Thr1001Ile) single nucleotide variant Inborn genetic diseases [RCV004478189] Chr10:120904117 [GRCh38]
Chr10:122663629 [GRCh37]
Chr10:10q26.12
uncertain significance
NC_000010.10:g.(?_122610933)_(124813281_?)dup duplication FGFR2-related craniosynostosis [RCV004581690] Chr10:122610933..124813281 [GRCh37]
Chr10:10q26.12-26.13
uncertain significance
NM_018117.12(WDR11):c.2288A>G (p.Asn763Ser) single nucleotide variant Inborn genetic diseases [RCV004678131] Chr10:120889954 [GRCh38]
Chr10:122649466 [GRCh37]
Chr10:10q26.12
uncertain significance
NM_018117.12(WDR11):c.991C>A (p.Pro331Thr) single nucleotide variant Inborn genetic diseases [RCV004678132] Chr10:120865741 [GRCh38]
Chr10:122625253 [GRCh37]
Chr10:10q26.12
uncertain significance
NM_018117.12(WDR11):c.2005C>G (p.Leu669Val) single nucleotide variant Inborn genetic diseases [RCV004678133] Chr10:120886720 [GRCh38]
Chr10:122646232 [GRCh37]
Chr10:10q26.12
uncertain significance
NM_018117.12(WDR11):c.1603T>A (p.Ser535Thr) single nucleotide variant Inborn genetic diseases [RCV004678134] Chr10:120878399 [GRCh38]
Chr10:122637911 [GRCh37]
Chr10:10q26.12
uncertain significance
NM_018117.12(WDR11):c.3346C>T (p.Leu1116Phe) single nucleotide variant not provided [RCV004810426] Chr10:120905930 [GRCh38]
Chr10:122665442 [GRCh37]
Chr10:10q26.12
uncertain significance
NM_018117.12(WDR11):c.943C>T (p.Arg315Cys) single nucleotide variant WDR11-related disorder [RCV004754096] Chr10:120865693 [GRCh38]
Chr10:122625205 [GRCh37]
Chr10:10q26.12
uncertain significance
NM_018117.12(WDR11):c.1471+6T>C single nucleotide variant not specified [RCV004702744] Chr10:120871352 [GRCh38]
Chr10:122630864 [GRCh37]
Chr10:10q26.12
uncertain significance
NM_018117.12(WDR11):c.3205T>G (p.Leu1069Val) single nucleotide variant WDR11-related disorder [RCV004732147] Chr10:120905330 [GRCh38]
Chr10:122664842 [GRCh37]
Chr10:10q26.12
uncertain significance
NM_018117.12(WDR11):c.3027_3027+3delinsT indel not provided [RCV004769568] Chr10:120904142..120904145 [GRCh38]
Chr10:122663654..122663657 [GRCh37]
Chr10:10q26.12
uncertain significance
NM_018117.12(WDR11):c.404T>A (p.Ile135Asn) single nucleotide variant not provided [RCV004771242] Chr10:120860160 [GRCh38]
Chr10:122619672 [GRCh37]
Chr10:10q26.12
uncertain significance
NM_018117.12(WDR11):c.3220_3223del (p.Asp1074fs) microsatellite Hypogonadotropic hypogonadism 14 with or without anosmia [RCV004701891] Chr10:120905341..120905344 [GRCh38]
Chr10:122664853..122664856 [GRCh37]
Chr10:10q26.12
likely pathogenic
NM_018117.12(WDR11):c.1904G>A (p.Arg635Gln) single nucleotide variant WDR11-related disorder [RCV004754041] Chr10:120885869 [GRCh38]
Chr10:122645381 [GRCh37]
Chr10:10q26.12
uncertain significance
NM_018117.12(WDR11):c.1370C>T (p.Thr457Met) single nucleotide variant not provided [RCV004761129]   uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3610
Count of miRNA genes:1109
Interacting mature miRNAs:1355
Transcripts:ENST00000263461, ENST00000462529, ENST00000470052, ENST00000478567, ENST00000497136, ENST00000603658, ENST00000604220, ENST00000604509, ENST00000604585, ENST00000604714, ENST00000605069, ENST00000605178, ENST00000605202, ENST00000605320, ENST00000605376, ENST00000605543, ENST00000605659
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
596968000GWAS1087519_Hprostate specific antigen amount QTL GWAS1087519 (human)1e-40prostate specific antigen amount10120871555120871556Human
406952630GWAS601606_Hobsolete_prostate specific antigen measurement QTL GWAS601606 (human)7e-08obsolete_prostate specific antigen measurement10120870067120870068Human
407103483GWAS752459_Hobsolete_prostate specific antigen measurement QTL GWAS752459 (human)1e-40obsolete_prostate specific antigen measurement10120871555120871556Human
597261505GWAS1357579_Hanorexia nervosa QTL GWAS1357579 (human)0.0000001anorexia nervosa10120900113120900114Human
597027180GWAS1123254_Hprostate specific antigen amount QTL GWAS1123254 (human)7e-08prostate specific antigen amount10120870067120870068Human
597327377GWAS1423451_Hprostate specific antigen amount QTL GWAS1423451 (human)1e-40prostate specific antigen amount10120871555120871556Human
597027112GWAS1123186_Hlower urinary tract symptom, benign prostatic hyperplasia QTL GWAS1123186 (human)3e-15prostate integrity trait (VT:0010571)10120870067120870068Human
597027547GWAS1123621_Hlower urinary tract symptom, benign prostatic hyperplasia QTL GWAS1123621 (human)2e-16prostate integrity trait (VT:0010571)10120870067120870068Human

Markers in Region
RH81052  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710122,668,727 - 122,668,915UniSTSGRCh37
Build 3610122,658,717 - 122,658,905RGDNCBI36
Celera10116,400,927 - 116,401,115RGD
Cytogenetic Map10q26UniSTS
HuRef10116,298,142 - 116,298,330UniSTS
GeneMap99-GB4 RH Map10533.39UniSTS
SHGC-78627  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710122,632,145 - 122,632,421UniSTSGRCh37
Build 3610122,622,135 - 122,622,411RGDNCBI36
Celera10116,364,334 - 116,364,610RGD
Cytogenetic Map10q26UniSTS
HuRef10116,261,548 - 116,261,824UniSTS
TNG Radiation Hybrid Map1060220.0UniSTS
SHGC-36304  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710122,637,562 - 122,637,687UniSTSGRCh37
Build 3610122,627,552 - 122,627,677RGDNCBI36
Celera10116,369,754 - 116,369,879RGD
Cytogenetic Map10q26UniSTS
HuRef10116,266,955 - 116,267,080UniSTS
Stanford-G3 RH Map105822.0UniSTS
NCBI RH Map101338.7UniSTS
GeneMap99-G3 RH Map106058.0UniSTS
SHGC-36479  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710122,668,891 - 122,668,996UniSTSGRCh37
Build 3610122,658,881 - 122,658,986RGDNCBI36
Celera10116,401,091 - 116,401,196RGD
Cytogenetic Map10q26UniSTS
HuRef10116,298,306 - 116,298,411UniSTS
Stanford-G3 RH Map105810.0UniSTS
NCBI RH Map101337.3UniSTS
GeneMap99-G3 RH Map106046.0UniSTS
RH44312  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710122,668,803 - 122,668,934UniSTSGRCh37
Build 3610122,658,793 - 122,658,924RGDNCBI36
Celera10116,401,003 - 116,401,134RGD
Cytogenetic Map10q26UniSTS
HuRef10116,298,218 - 116,298,349UniSTS
GeneMap99-GB4 RH Map10538.26UniSTS
NCBI RH Map101344.2UniSTS
STS-R08557  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710122,668,149 - 122,668,348UniSTSGRCh37
Build 3610122,658,139 - 122,658,338RGDNCBI36
Celera10116,400,349 - 116,400,548RGD
Cytogenetic Map10q26UniSTS
HuRef10116,297,560 - 116,297,759UniSTS
GeneMap99-GB4 RH Map10536.35UniSTS
STS-H54750  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710122,638,807 - 122,638,958UniSTSGRCh37
Build 3610122,628,797 - 122,628,948RGDNCBI36
Celera10116,370,999 - 116,371,150RGD
Cytogenetic Map10q26UniSTS
HuRef10116,268,200 - 116,268,351UniSTS
GeneMap99-GB4 RH Map10536.55UniSTS
SHGC-64316  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710122,668,739 - 122,668,851UniSTSGRCh37
Build 3610122,658,729 - 122,658,841RGDNCBI36
Celera10116,400,939 - 116,401,051RGD
Cytogenetic Map10q26UniSTS
HuRef10116,298,154 - 116,298,266UniSTS
TNG Radiation Hybrid Map1060216.0UniSTS
D11S2921  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map14q13.2UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map10q24.33UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map4q32.1UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map13q12UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map20q11UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map12q21.33UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic MapXp11.4-p11.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map1q24.1UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map2q14UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map2q33-q34UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic MapYp11.2UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map2q37UniSTS
Cytogenetic Map18pter-p11.3UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map2q21.3UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic MapXq22.1UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map4q34.1UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map7q21.12UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map6p22UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map16p13.13UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map19p13.1-p12UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map8q24UniSTS
Cytogenetic Map18p11.31-p11.21UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map7p21.2UniSTS
Cytogenetic Map12q23-q24.1UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map1q42.1UniSTS
Cytogenetic Map12p13UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map5q35UniSTS
Cytogenetic Map8p23-p22UniSTS
Cytogenetic Map12p11UniSTS
Cytogenetic Map17q21-q22UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map11p13-p12UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map2q12.1UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map5q12-q13UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map20p12.3-p11.21UniSTS
Cytogenetic Map17q11.2-q12UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map12q13-q14UniSTS
Cytogenetic Map6q14.1UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map1p31UniSTS
Cytogenetic Map15q15-q21.1UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map11q22.1UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map21p11.1UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map6p22.3-p22.1UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map6q15UniSTS
Cytogenetic MapXq25-q26.3UniSTS
Cytogenetic Map10q22.3UniSTS
Cytogenetic Map12q24.31-q24.32UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map9q33.2UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map12p12.2-p11.2UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic MapXp11UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map20q13.2UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map18p11.32UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map4p13UniSTS
Cytogenetic Map16p12.1UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map16q12.1UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map20q13.1UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map10q23.33UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map9p24.1-p23UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic MapXq12-q13UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map14q23UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map1q42.1-q43UniSTS
Cytogenetic Map7q31.1-q31.3UniSTS
Cytogenetic Map20q11.21UniSTS
Cytogenetic Map20q12-q13.12UniSTS
Cytogenetic Map1q24-q25.3UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map6q25.1-q26UniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map7p11UniSTS
Cytogenetic Map12p11.22UniSTS
Cytogenetic Map17q23.1UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map9p11UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map6p22.2UniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map11p11.11UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map15q22-q23UniSTS
Cytogenetic Map9p21UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map15q22-qterUniSTS
Cytogenetic Map10q25UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map5p15.1UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map2q23.3UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map2q21.2UniSTS
Cytogenetic Map15q13.3UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map19p13.2-cenUniSTS
Cytogenetic Map19p13.3-p13.2UniSTS
Cytogenetic Map13q32.3UniSTS
Cytogenetic Map9q33UniSTS
Cytogenetic Map1p36-p35UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map12q23UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map7q31.1-q31.2UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map4q25-q27UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic MapXq26.2UniSTS
Cytogenetic Map8q13.2UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map5q23.1UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map3p26.1UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic MapXq21.3UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map5p13.1-p12UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map3p21.1-p14.3UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map6q14.3-q16.1UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map8p11UniSTS
Cytogenetic Map6q25UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map16p12UniSTS
Cytogenetic Map6q14.3UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map13q12.2UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map10p11.21UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map17q21.1-q21.3UniSTS
Cytogenetic Map6q11.1UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map22q13.1-q13.2UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map9q32-q33.3UniSTS
Cytogenetic Map8q21.2UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map12p13.2-p12.3UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map10q24.2UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map5p13UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map10q24-q25UniSTS
Cytogenetic Map7p11.1UniSTS
Cytogenetic Map14q11.2-q21UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map10q21-q22UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map10q23.31UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map2p24.1UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7p13-p11.1UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic Map5p14.3UniSTS
Cytogenetic MapXp22.13UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map9p13.1UniSTS
Cytogenetic Map9q34.13UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2248 4972 1726 2351 5 624 1950 465 2269 7301 6467 53 3734 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_023290 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_018117 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005269963 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017016397 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017016398 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017016399 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017016400 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024448075 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047425458 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047425459 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054366268 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054366269 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054366270 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001747136 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001747137 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007061973 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008488227 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_428707 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB037772 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC010998 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF320223 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK000579 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK001368 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK025050 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK092984 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK124522 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK299524 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK301761 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK315145 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL137699 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL391425 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC040469 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC071564 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI912281 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471066 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068268 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC342128 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  W16996 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000263461   ⟹   ENSP00000263461
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10120,851,362 - 120,909,524 (+)Ensembl
Ensembl Acc Id: ENST00000462529
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10120,862,450 - 120,865,191 (+)Ensembl
Ensembl Acc Id: ENST00000470052
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10120,851,781 - 120,858,796 (+)Ensembl
Ensembl Acc Id: ENST00000478567
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10120,885,868 - 120,903,225 (+)Ensembl
Ensembl Acc Id: ENST00000497136   ⟹   ENSP00000474595
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10120,852,616 - 120,909,520 (+)Ensembl
Ensembl Acc Id: ENST00000603658
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10120,904,065 - 120,905,656 (+)Ensembl
Ensembl Acc Id: ENST00000604220
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10120,868,663 - 120,883,805 (+)Ensembl
Ensembl Acc Id: ENST00000604509
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10120,879,005 - 120,909,510 (+)Ensembl
Ensembl Acc Id: ENST00000604585   ⟹   ENSP00000474880
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10120,851,487 - 120,880,875 (+)Ensembl
Ensembl Acc Id: ENST00000604714
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10120,907,295 - 120,909,523 (+)Ensembl
Ensembl Acc Id: ENST00000605069
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10120,851,392 - 120,862,910 (+)Ensembl
Ensembl Acc Id: ENST00000605178
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10120,851,404 - 120,862,909 (+)Ensembl
Ensembl Acc Id: ENST00000605202
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10120,851,305 - 120,860,270 (+)Ensembl
Ensembl Acc Id: ENST00000605320
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10120,899,838 - 120,903,175 (+)Ensembl
Ensembl Acc Id: ENST00000605376
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10120,885,010 - 120,889,968 (+)Ensembl
Ensembl Acc Id: ENST00000605543   ⟹   ENSP00000475076
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10120,851,362 - 120,909,182 (+)Ensembl
Ensembl Acc Id: ENST00000605659
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10120,904,041 - 120,905,395 (+)Ensembl
RefSeq Acc Id: NM_018117   ⟹   NP_060587
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810120,851,362 - 120,909,524 (+)NCBI
GRCh3710122,610,687 - 122,669,038 (+)NCBI
Build 3610122,600,685 - 122,659,026 (+)NCBI Archive
Celera10116,342,868 - 116,401,238 (+)RGD
HuRef10116,240,087 - 116,298,453 (+)ENTREZGENE
CHM1_110122,895,777 - 122,954,121 (+)NCBI
T2T-CHM13v2.010121,747,910 - 121,806,084 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005269963   ⟹   XP_005270020
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810120,851,362 - 120,909,524 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047425458   ⟹   XP_047281414
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810120,851,765 - 120,909,524 (+)NCBI
RefSeq Acc Id: XM_047425459   ⟹   XP_047281415
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810120,855,752 - 120,909,524 (+)NCBI
RefSeq Acc Id: XM_054366268   ⟹   XP_054222243
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.010121,747,990 - 121,806,084 (+)NCBI
RefSeq Acc Id: XM_054366269   ⟹   XP_054222244
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.010121,752,300 - 121,806,084 (+)NCBI
RefSeq Acc Id: XM_054366270   ⟹   XP_054222245
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.010121,747,910 - 121,796,684 (+)NCBI
RefSeq Acc Id: XR_007061973
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810120,851,362 - 120,901,098 (+)NCBI
RefSeq Acc Id: XR_008488227
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.010121,747,910 - 121,806,084 (+)NCBI
RefSeq Acc Id: XR_428707
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810120,851,362 - 120,909,524 (+)NCBI
Sequence:
RefSeq Acc Id: NP_060587   ⟸   NM_018117
- UniProtKB: Q9P2J6 (UniProtKB/Swiss-Prot),   Q9BZH6 (UniProtKB/Swiss-Prot),   Q5VWA1 (UniProtKB/Swiss-Prot),   B2RCJ6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005270020   ⟸   XM_005269963
- Peptide Label: isoform X1
- UniProtKB: Q9NVU3 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000474595   ⟸   ENST00000497136
Ensembl Acc Id: ENSP00000474880   ⟸   ENST00000604585
Ensembl Acc Id: ENSP00000475076   ⟸   ENST00000605543
Ensembl Acc Id: ENSP00000263461   ⟸   ENST00000263461
RefSeq Acc Id: XP_047281414   ⟸   XM_047425458
- Peptide Label: isoform X1
- UniProtKB: Q9NVU3 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047281415   ⟸   XM_047425459
- Peptide Label: isoform X1
- UniProtKB: Q9NVU3 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054222245   ⟸   XM_054366270
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054222243   ⟸   XM_054366268
- Peptide Label: isoform X1
- UniProtKB: Q9NVU3 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054222244   ⟸   XM_054366269
- Peptide Label: isoform X1
- UniProtKB: Q9NVU3 (UniProtKB/TrEMBL)

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9BZH6-F1-model_v2 AlphaFold Q9BZH6 1-1224 view protein structure

Promoters
RGD ID:7218837
Promoter ID:EPDNEW_H15164
Type:initiation region
Name:WDR11_2
Description:WD repeat domain 11
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H15165  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810120,851,178 - 120,851,238EPDNEW
RGD ID:7218839
Promoter ID:EPDNEW_H15165
Type:initiation region
Name:WDR11_1
Description:WD repeat domain 11
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H15164  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810120,851,392 - 120,851,452EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:13831 AgrOrtholog
COSMIC WDR11 COSMIC
Ensembl Genes ENSG00000120008 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000263461 ENTREZGENE
  ENST00000263461.11 UniProtKB/Swiss-Prot
  ENST00000497136.6 UniProtKB/TrEMBL
  ENST00000604585.5 UniProtKB/TrEMBL
  ENST00000605543.5 UniProtKB/TrEMBL
Gene3D-CATH 2.130.10.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000120008 GTEx
HGNC ID HGNC:13831 ENTREZGENE
Human Proteome Map WDR11 Human Proteome Map
InterPro WD40/YVTN_repeat-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD40_repeat UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD40_repeat_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD40_repeat_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WDR11 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:55717 UniProtKB/Swiss-Prot
NCBI Gene WDR11 ENTREZGENE
OMIM 606417 OMIM
PANTHER PTHR14593 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD REPEAT-CONTAINING PROTEIN 11 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA37818 PharmGKB
PROSITE WD_REPEATS_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART WD40 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF50978 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B2RCJ6 ENTREZGENE, UniProtKB/TrEMBL
  Q5VWA1 ENTREZGENE
  Q9BZH6 ENTREZGENE
  Q9NVU3 ENTREZGENE, UniProtKB/TrEMBL
  Q9P2J6 ENTREZGENE
  S4R3P9_HUMAN UniProtKB/TrEMBL
  S4R3Z0_HUMAN UniProtKB/TrEMBL
  S4R451_HUMAN UniProtKB/TrEMBL
  WDR11_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary Q5VWA1 UniProtKB/Swiss-Prot
  Q9P2J6 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2011-07-27 WDR11  WD repeat domain 11  BRWD2  bromodomain and WD repeat domain containing 2  Symbol and/or name change 5135510 APPROVED