OFD1 (OFD1 centriole and centriolar satellite protein) - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: OFD1 (OFD1 centriole and centriolar satellite protein) Homo sapiens
Analyze
Symbol: OFD1
Name: OFD1 centriole and centriolar satellite protein
RGD ID: 1348587
HGNC Page HGNC
Description: Exhibits identical protein binding activity. Predicted to be involved in several processes, including embryonic body morphogenesis; epithelial cilium movement involved in determination of left/right asymmetry; and negative regulation of fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation. Localizes to centriole; centrosome; and ciliary basal body. Implicated in Joubert syndrome 10; Simpson-Golabi-Behmel syndrome type 2; orofaciodigital syndrome I; retinitis pigmentosa; and retinitis pigmentosa 23.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: 71-7A; CXorf5; JBTS10; Joubert syndrome type 10; MGC117039; MGC117040; oral-facial-digital syndrome 1; retinitis pigmentosa 23 (X-linked recessive); RP23; SGBS2
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: OFD1P10Y   OFD1P11Y   OFD1P12Y   OFD1P13Y   OFD1P14Y   OFD1P15Y   OFD1P16Y   OFD1P17   OFD1P18Y   OFD1P1Y   OFD1P2Y   OFD1P3Y   OFD1P4Y   OFD1P5Y   OFD1P6Y   OFD1P7Y   OFD1P8Y   OFD1P9Y  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX13,734,745 - 13,769,357 (+)EnsemblGRCh38hg38GRCh38
GRCh38.p13 EnsemblX13,734,743 - 13,777,955 (+)EnsemblGRCh38hg38GRCh38
GRCh38X13,734,726 - 13,773,978 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X13,752,867 - 13,787,476 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X13,662,801 - 13,697,393 (+)NCBINCBI36hg18NCBI36
Build 34X13,512,536 - 13,547,127NCBI
CeleraX17,869,913 - 17,904,562 (+)NCBI
Cytogenetic MapXp22.2NCBI
HuRefX11,510,937 - 11,544,940 (+)NCBIHuRef
CHM1_1X13,783,650 - 13,818,298 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal cerebellum morphology  (IAGP)
Abnormal cortical gyration  (IAGP)
Abnormal electroretinogram  (IAGP)
Abnormal heart morphology  (IAGP)
Abnormal inferior vena cava morphology  (IAGP)
Abnormal oral frenulum morphology  (IAGP)
Abnormal retinal vascular morphology  (IAGP)
Abnormal rib cage morphology  (IAGP)
Abnormal sperm motility  (IAGP)
Abnormal testis morphology  (IAGP)
Abnormality of dental enamel  (IAGP)
Abnormality of neuronal migration  (IAGP)
Abnormality of retinal pigmentation  (IAGP)
Abnormality of the dentition  (IAGP)
Abnormality of the nail  (IAGP)
Abnormality of toe  (IAGP)
Accessory oral frenulum  (IAGP)
Agenesis of cerebellar vermis  (IAGP)
Agenesis of corpus callosum  (IAGP)
Agenesis of mandibular lateral incisor  (IAGP)
Agenesis of permanent teeth  (IAGP)
Airway obstruction  (IAGP)
Alopecia  (IAGP)
Alveolar ridge overgrowth  (IAGP)
Anomalous pulmonary venous return  (IAGP)
Anteverted nares  (IAGP)
Aplasia/Hypoplasia of the corpus callosum  (IAGP)
Apnea  (IAGP)
Arachnoid cyst  (IAGP)
Asplenia  (IAGP)
Ataxia  (IAGP)
Atelectasis  (IAGP)
Atrial situs ambiguous  (IAGP)
Atypical scarring of skin  (IAGP)
Bifid nail  (IAGP)
Bifid tongue  (IAGP)
Bilateral cryptorchidism  (IAGP)
Biparietal narrowing  (IAGP)
Blindness  (IAGP)
Brachydactyly  (IAGP)
Brittle hair  (IAGP)
Broad alveolar ridges  (IAGP)
Broad nasal tip  (IAGP)
Broad palm  (IAGP)
Bronchiectasis  (IAGP)
Carious teeth  (IAGP)
Cataract  (IAGP)
Central Y-shaped metacarpal  (IAGP)
Cerebellar vermis hypoplasia  (IAGP)
Choanal atresia  (IAGP)
Chronic otitis media  (IAGP)
Chronic rhinitis  (IAGP)
Chronic sinusitis  (IAGP)
Ciliary dyskinesia  (IAGP)
Cleft palate  (IAGP)
Clinodactyly  (IAGP)
Clinodactyly of the 5th finger  (IAGP)
Clubbing  (IAGP)
Coarse facial features  (IAGP)
Coarse hair  (IAGP)
Color vision defect  (IAGP)
Conductive hearing impairment  (IAGP)
Cone-shaped epiphysis  (IAGP)
Congenital hip dislocation  (IAGP)
Congenital onset  (IAGP)
Dandy-Walker malformation  (IAGP)
Deep philtrum  (IAGP)
Delayed speech and language development  (IAGP)
Dolichocephaly  (IAGP)
Double outlet right ventricle  (IAGP)
Downslanted palpebral fissures  (IAGP)
Dry skin  (IAGP)
Dystonia  (IAGP)
Ectopic pregnancy  (IAGP)
Elevated hepatic transaminase  (IAGP)
Enlarged cisterna magna  (IAGP)
Epicanthus  (IAGP)
Episodic tachypnea  (IAGP)
Esotropia  (IAGP)
Exocrine pancreatic insufficiency  (IAGP)
Facial asymmetry  (IAGP)
Facial capillary hemangioma  (IAGP)
Failure to thrive  (IAGP)
Feeding difficulties in infancy  (IAGP)
Female infertility  (IAGP)
Finger clinodactyly  (IAGP)
Finger syndactyly  (IAGP)
Foot polydactyly  (IAGP)
Frontal bossing  (IAGP)
Gait disturbance  (IAGP)
Generalized hypotonia  (IAGP)
Glaucoma  (IAGP)
Global developmental delay  (IAGP)
Gray matter heterotopia  (IAGP)
Growth delay  (IAGP)
Hamartoma of tongue  (IAGP)
Hand polydactyly  (IAGP)
Hearing impairment  (IAGP)
Hepatic cysts  (IAGP)
Hepatic fibrosis  (IAGP)
High palate  (IAGP)
Highly arched eyebrow  (IAGP)
Hirsutism  (IAGP)
Hydrocephalus  (IAGP)
Hydronephrosis  (IAGP)
Hyperactive deep tendon reflexes  (IAGP)
Hyperinsulinemia  (IAGP)
Hyperreflexia  (IAGP)
Hypertelorism  (IAGP)
Hypertension  (IAGP)
Hypodontia  (IAGP)
Hypogonadism  (IAGP)
Hypoplasia of dental enamel  (IAGP)
Hypoplasia of olfactory tract  (IAGP)
Hypoplasia of penis  (IAGP)
Hypoplasia of the zygomatic bone  (IAGP)
Hypothalamic hamartoma  (IAGP)
Hypotonia  (IAGP)
Increased number of teeth  (IAGP)
Inguinal hernia  (IAGP)
Intellectual disability  (IAGP)
Intellectual disability, profound  (IAGP)
Intellectual disability, progressive  (IAGP)
Intellectual disability, severe  (IAGP)
Intestinal malrotation  (IAGP)
Keratoconus  (IAGP)
Lip pit  (IAGP)
Lithoptysis  (IAGP)
Lobulated tongue  (IAGP)
Long face  (IAGP)
Low-set ears  (IAGP)
Low-set, posteriorly rotated ears  (IAGP)
Macrocephaly  (IAGP)
Male infertility  (IAGP)
Median cleft lip  (IAGP)
Mesoaxial polydactyly  (IAGP)
Microcephaly  (IAGP)
Micrognathia  (IAGP)
Micropenis  (IAGP)
Microretrognathia  (IAGP)
Midline notch of upper alveolar ridge  (IAGP)
Milia  (IAGP)
Molar tooth sign on MRI  (IAGP)
Multicystic kidney dysplasia  (IAGP)
Myelomeningocele  (IAGP)
Nasal obstruction  (IAGP)
Nasal polyposis  (IAGP)
Neonatal respiratory distress  (IAGP)
Nystagmus  (IAGP)
Obesity  (IAGP)
Odontogenic neoplasm  (IAGP)
Open bite  (IAGP)
Ophthalmoplegia  (IAGP)
Optic atrophy  (IAGP)
Ovarian cyst  (IAGP)
Pancreatic cysts  (IAGP)
Peribronchovascular interstitial thickening  (IAGP)
Persistent left superior vena cava  (IAGP)
Photophobia  (IAGP)
Pneumonia  (IAGP)
Polycystic kidney dysplasia  (IAGP)
Polydactyly  (IAGP)
Polysplenia  (IAGP)
Porencephalic cyst  (IAGP)
Postaxial hand polydactyly  (IAGP)
Postaxial polydactyly  (IAGP)
Posterior subcapsular cataract  (IAGP)
Posteriorly rotated ears  (IAGP)
Preaxial hand polydactyly  (IAGP)
Preaxial polydactyly  (IAGP)
Productive cough  (IAGP)
Progressive night blindness  (IAGP)
Prominent nasal bridge  (IAGP)
Proteinuria  (IAGP)
Pulmonary situs ambiguus  (IAGP)
Radial deviation of finger  (IAGP)
Recurrent infections  (IAGP)
Recurrent mycobacterial infections  (IAGP)
Recurrent otitis media  (IAGP)
Recurrent sinopulmonary infections  (IAGP)
Recurrent upper respiratory tract infections  (IAGP)
Reduced bone mineral density  (IAGP)
Renal agenesis  (IAGP)
Renal insufficiency  (IAGP)
Respiratory failure  (IAGP)
Retinal dystrophy  (IAGP)
Ridged nail  (IAGP)
Rod-cone dystrophy  (IAGP)
Scaphocephaly  (IAGP)
Schizophrenia  (IAGP)
Seizure  (IAGP)
Sensorineural hearing impairment  (IAGP)
Short finger  (IAGP)
Short neck  (IAGP)
Short nose  (IAGP)
Short stature  (IAGP)
Short toe  (IAGP)
Single transverse palmar crease  (IAGP)
Situs inversus totalis  (IAGP)
Small nail  (IAGP)
Sparse hair  (IAGP)
Syndactyly  (IAGP)
Talipes equinovarus  (IAGP)
Tapered finger  (IAGP)
Tarsal synostosis  (IAGP)
Telecanthus  (IAGP)
Thick vermilion border  (IAGP)
Thickened nuchal skin fold  (IAGP)
Thin upper lip vermilion  (IAGP)
Tongue nodules  (IAGP)
Transposition of the great arteries  (IAGP)
Tremor  (IAGP)
Type II diabetes mellitus  (IAGP)
U-Shaped upper lip vermilion  (IAGP)
Underdeveloped nasal alae  (IAGP)
Vascular dilatation  (IAGP)
Ventriculomegaly  (IAGP)
Wheezing  (IAGP)
Wide intermamillary distance  (IAGP)
Wide mouth  (IAGP)
Wide nasal bridge  (IAGP)
Wide nose  (IAGP)
X-linked dominant inheritance  (IAGP)
X-linked recessive inheritance  (IAGP)
References

Additional References at PubMed
PMID:7759104   PMID:7790358   PMID:8125298   PMID:9215688   PMID:9722947   PMID:10441586   PMID:10892847   PMID:11076968   PMID:11179005   PMID:11734546   PMID:12221128   PMID:12477932  
PMID:12595504   PMID:12782125   PMID:12852856   PMID:14654843   PMID:15466260   PMID:15489334   PMID:16169070   PMID:16462731   PMID:16712791   PMID:17761535   PMID:18029348   PMID:18546297  
PMID:19023858   PMID:19783798   PMID:19913121   PMID:19946888   PMID:20230748   PMID:20301367   PMID:20301500   PMID:20301590   PMID:20301743   PMID:20628086   PMID:20736409   PMID:20818665  
PMID:20835237   PMID:21266464   PMID:21399614   PMID:21873635   PMID:21988832   PMID:22353940   PMID:22548404   PMID:23036093   PMID:23398456   PMID:23789104   PMID:24089205   PMID:24255178  
PMID:24343661   PMID:24613305   PMID:24691443   PMID:24711643   PMID:24997988   PMID:25180832   PMID:25281560   PMID:25900982   PMID:25921289   PMID:26186194   PMID:26496610   PMID:26638075  
PMID:27146717   PMID:27173435   PMID:27798113   PMID:27880917   PMID:28371265   PMID:28450740   PMID:28505061   PMID:28514442   PMID:28718761   PMID:28765046   PMID:29395067   PMID:29467281  
PMID:29568061   PMID:30258116   PMID:30401917   PMID:30561431   PMID:30581152   PMID:30581852   PMID:30895720   PMID:31366608   PMID:31373179   PMID:31462741   PMID:31586073   PMID:31594818  
PMID:32473706   PMID:32944789   PMID:33060197  


Genomics

Comparative Map Data
OFD1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX13,734,745 - 13,769,357 (+)EnsemblGRCh38hg38GRCh38
GRCh38.p13 EnsemblX13,734,743 - 13,777,955 (+)EnsemblGRCh38hg38GRCh38
GRCh38X13,734,726 - 13,773,978 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X13,752,867 - 13,787,476 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X13,662,801 - 13,697,393 (+)NCBINCBI36hg18NCBI36
Build 34X13,512,536 - 13,547,127NCBI
CeleraX17,869,913 - 17,904,562 (+)NCBI
Cytogenetic MapXp22.2NCBI
HuRefX11,510,937 - 11,544,940 (+)NCBIHuRef
CHM1_1X13,783,650 - 13,818,298 (+)NCBICHM1_1
Ofd1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X165,171,503 - 165,223,700 (-)NCBIGRCm39mm39
GRCm39 EnsemblX165,173,029 - 165,223,700 (-)Ensembl
GRCm38X166,386,573 - 166,440,704 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX166,390,033 - 166,440,704 (-)EnsemblGRCm38mm10GRCm38
MGSCv37X162,827,965 - 162,878,636 (-)NCBIGRCm37mm9NCBIm37
MGSCv36X161,735,041 - 161,784,660 (-)NCBImm8
CeleraX149,569,705 - 149,620,495 (-)NCBICelera
Cytogenetic MapXF5NCBI
cM MapX77.28NCBI
Ofd1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X28,015,347 - 28,056,115 (+)NCBI
Rnor_6.0 EnsemblX29,562,165 - 29,602,925 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X29,562,165 - 29,602,934 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0X29,955,456 - 29,996,224 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X48,701,675 - 48,742,443 (+)NCBIRGSC3.4rn4RGSC3.4
CeleraX28,388,104 - 28,428,825 (+)NCBICelera
Cytogenetic MapXq13NCBI
Ofd1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555194,433,855 - 4,471,070 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049555194,433,747 - 4,470,842 (-)NCBIChiLan1.0ChiLan1.0
OFD1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X13,630,006 - 13,669,285 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX13,611,304 - 13,664,512 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X6,296,597 - 6,376,197 (+)NCBIMhudiblu_PPA_v0panPan3
OFD1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X10,140,439 - 10,194,478 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX10,140,067 - 10,194,472 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX10,114,679 - 10,168,786 (+)NCBI
ROS_Cfam_1.0X10,098,262 - 10,152,653 (+)NCBI
UMICH_Zoey_3.1X10,166,885 - 10,220,990 (+)NCBI
UNSW_CanFamBas_1.0X10,158,225 - 10,212,581 (+)NCBI
UU_Cfam_GSD_1.0X10,184,578 - 10,238,702 (+)NCBI
Ofd1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X3,292,935 - 3,331,915 (+)NCBI
SpeTri2.0NW_0049364703,292,961 - 3,331,915 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
OFD1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1X10,361,403 - 10,415,502 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X11,314,606 - 11,369,244 (+)NCBISscrofa10.2Sscrofa10.2susScr3
OFD1
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X12,222,396 - 12,256,802 (+)NCBI
ChlSab1.1 EnsemblX12,222,760 - 12,256,557 (+)Ensembl
Ofd1
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_004624882376,447 - 417,066 (-)NCBI

Position Markers
RH47405  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X13,787,218 - 13,787,361UniSTSGRCh37
Build 36X13,697,139 - 13,697,282RGDNCBI36
CeleraX17,904,300 - 17,904,443RGD
Cytogenetic MapXp22UniSTS
HuRefX11,544,678 - 11,544,821UniSTS
GeneMap99-GB4 RH MapX87.34UniSTS
NCBI RH MapX10.0UniSTS
DXS1152  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X13,785,668 - 13,785,831UniSTSGRCh37
Build 36X13,695,589 - 13,695,752RGDNCBI36
CeleraX17,902,750 - 17,902,913RGD
Cytogenetic MapXp22UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1060
Count of miRNA genes:608
Interacting mature miRNAs:656
Transcripts:ENST00000340096, ENST00000380550, ENST00000380567, ENST00000398395, ENST00000464463, ENST00000466534, ENST00000474705, ENST00000485052, ENST00000490265
Prediction methods:Microtar, Miranda, Pita, 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.


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2174 1469 1286 332 1315 183 3246 841 2219 323 1427 1575 163 831 1919 4
Low 265 1519 439 291 633 281 1109 1356 1515 96 33 38 12 1 373 869 2 2
Below cutoff 3 1 1 3 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008872 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001330209 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001330210 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_003611 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005274606 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011545592 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011545594 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011545595 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011545597 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011545598 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029909 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029911 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024452468 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024452469 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024452470 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024452471 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC003037 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK225847 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK289677 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK290354 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK297104 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK311067 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC012324 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC030787 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC042830 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC052809 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC062432 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC092448 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC096344 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC096345 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC099658 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC099659 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB134304 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471074 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GU727634 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HF583727 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y15164 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y16355 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000340096   ⟹   ENSP00000344314
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX13,734,748 - 13,769,357 (+)Ensembl
RefSeq Acc Id: ENST00000380550   ⟹   ENSP00000369923
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX13,734,898 - 13,769,311 (+)Ensembl
RefSeq Acc Id: ENST00000380567   ⟹   ENSP00000369941
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX13,734,745 - 13,769,353 (+)Ensembl
RefSeq Acc Id: ENST00000398395   ⟹   ENSP00000381432
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX13,734,898 - 13,769,311 (+)Ensembl
RefSeq Acc Id: ENST00000464463
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX13,760,640 - 13,769,171 (+)Ensembl
RefSeq Acc Id: ENST00000466534
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX13,738,694 - 13,739,314 (+)Ensembl
RefSeq Acc Id: ENST00000474705
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX13,767,905 - 13,769,173 (+)Ensembl
RefSeq Acc Id: ENST00000485052
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX13,734,757 - 13,736,547 (+)Ensembl
RefSeq Acc Id: ENST00000490265
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX13,734,761 - 13,769,353 (+)Ensembl
RefSeq Acc Id: ENST00000682237   ⟹   ENSP00000507121
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX13,734,761 - 13,769,353 (+)Ensembl
RefSeq Acc Id: ENST00000682562   ⟹   ENSP00000507874
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX13,734,846 - 13,770,855 (+)Ensembl
RefSeq Acc Id: ENST00000682953   ⟹   ENSP00000507878
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX13,734,757 - 13,769,311 (+)Ensembl
RefSeq Acc Id: ENST00000683055   ⟹   ENSP00000508191
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX13,734,936 - 13,769,206 (+)Ensembl
RefSeq Acc Id: ENST00000683065
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX13,746,393 - 13,753,953 (+)Ensembl
RefSeq Acc Id: ENST00000683284   ⟹   ENSP00000507837
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX13,734,746 - 13,770,855 (+)Ensembl
RefSeq Acc Id: ENST00000683427   ⟹   ENSP00000507290
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX13,734,746 - 13,770,855 (+)Ensembl
RefSeq Acc Id: ENST00000683454
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX13,736,478 - 13,777,955 (+)Ensembl
RefSeq Acc Id: ENST00000683637
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX13,743,558 - 13,768,785 (+)Ensembl
RefSeq Acc Id: ENST00000683655   ⟹   ENSP00000506770
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX13,734,821 - 13,768,785 (+)Ensembl
RefSeq Acc Id: ENST00000683713   ⟹   ENSP00000507797
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX13,734,746 - 13,770,855 (+)Ensembl
RefSeq Acc Id: ENST00000684401
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX13,735,976 - 13,739,235 (+)Ensembl
RefSeq Acc Id: ENST00000684577   ⟹   ENSP00000507871
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX13,734,745 - 13,769,222 (+)Ensembl
RefSeq Acc Id: NM_001330209   ⟹   NP_001317138
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X13,734,748 - 13,769,357 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001330210   ⟹   NP_001317139
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X13,734,748 - 13,769,357 (+)NCBI
Sequence:
RefSeq Acc Id: NM_003611   ⟹   NP_003602
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X13,734,748 - 13,769,357 (+)NCBI
GRCh37X13,733,549 - 13,787,480 (+)NCBI
Build 36X13,662,801 - 13,697,393 (+)NCBI Archive
HuRefX11,510,937 - 11,544,940 (+)ENTREZGENE
CHM1_1X13,783,650 - 13,818,298 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005274606   ⟹   XP_005274663
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X13,734,726 - 13,769,353 (+)NCBI
GRCh37X13,733,549 - 13,787,480 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011545592   ⟹   XP_011543894
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X13,734,726 - 13,769,353 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011545594   ⟹   XP_011543896
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X13,735,285 - 13,769,353 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011545595   ⟹   XP_011543897
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X13,735,142 - 13,769,353 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011545597   ⟹   XP_011543899
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X13,734,782 - 13,773,978 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011545598   ⟹   XP_011543900
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X13,751,290 - 13,769,353 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029909   ⟹   XP_016885398
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X13,735,248 - 13,769,353 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029911   ⟹   XP_016885400
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X13,751,261 - 13,769,353 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024452468   ⟹   XP_024308236
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X13,734,739 - 13,769,353 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024452469   ⟹   XP_024308237
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X13,734,728 - 13,769,353 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024452470   ⟹   XP_024308238
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X13,734,728 - 13,769,353 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024452471   ⟹   XP_024308239
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X13,734,782 - 13,773,978 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001317138 (Get FASTA)   NCBI Sequence Viewer  
  NP_001317139 (Get FASTA)   NCBI Sequence Viewer  
  NP_003602 (Get FASTA)   NCBI Sequence Viewer  
  XP_005274663 (Get FASTA)   NCBI Sequence Viewer  
  XP_011543894 (Get FASTA)   NCBI Sequence Viewer  
  XP_011543896 (Get FASTA)   NCBI Sequence Viewer  
  XP_011543897 (Get FASTA)   NCBI Sequence Viewer  
  XP_011543899 (Get FASTA)   NCBI Sequence Viewer  
  XP_011543900 (Get FASTA)   NCBI Sequence Viewer  
  XP_016885398 (Get FASTA)   NCBI Sequence Viewer  
  XP_016885400 (Get FASTA)   NCBI Sequence Viewer  
  XP_024308236 (Get FASTA)   NCBI Sequence Viewer  
  XP_024308237 (Get FASTA)   NCBI Sequence Viewer  
  XP_024308238 (Get FASTA)   NCBI Sequence Viewer  
  XP_024308239 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH42830 (Get FASTA)   NCBI Sequence Viewer  
  AAH52809 (Get FASTA)   NCBI Sequence Viewer  
  AAH62432 (Get FASTA)   NCBI Sequence Viewer  
  AAH96344 (Get FASTA)   NCBI Sequence Viewer  
  AAH96345 (Get FASTA)   NCBI Sequence Viewer  
  ADU87636 (Get FASTA)   NCBI Sequence Viewer  
  BAF82366 (Get FASTA)   NCBI Sequence Viewer  
  BAF83043 (Get FASTA)   NCBI Sequence Viewer  
  BAG59615 (Get FASTA)   NCBI Sequence Viewer  
  CAA75436 (Get FASTA)   NCBI Sequence Viewer  
  CAA76185 (Get FASTA)   NCBI Sequence Viewer  
  CCQ43224 (Get FASTA)   NCBI Sequence Viewer  
  EAW98835 (Get FASTA)   NCBI Sequence Viewer  
  EAW98836 (Get FASTA)   NCBI Sequence Viewer  
  EAW98837 (Get FASTA)   NCBI Sequence Viewer  
  EAW98838 (Get FASTA)   NCBI Sequence Viewer  
  EAW98839 (Get FASTA)   NCBI Sequence Viewer  
  EAW98840 (Get FASTA)   NCBI Sequence Viewer  
  EAW98841 (Get FASTA)   NCBI Sequence Viewer  
  O75665 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_003602   ⟸   NM_003611
- Peptide Label: isoform 1
- UniProtKB: O75665 (UniProtKB/Swiss-Prot),   E9KL37 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005274663   ⟸   XM_005274606
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011543894   ⟸   XM_011545592
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_011543899   ⟸   XM_011545597
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_011543897   ⟸   XM_011545595
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_011543896   ⟸   XM_011545594
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_011543900   ⟸   XM_011545598
- Peptide Label: isoform X7
- Sequence:
RefSeq Acc Id: XP_016885398   ⟸   XM_017029909
- Peptide Label: isoform X4
- UniProtKB: A6NF31 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016885400   ⟸   XM_017029911
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: NP_001317139   ⟸   NM_001330210
- Peptide Label: isoform 3
- UniProtKB: A6NF31 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001317138   ⟸   NM_001330209
- Peptide Label: isoform 2
- UniProtKB: O75665 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_024308237   ⟸   XM_024452469
- Peptide Label: isoform X7
- Sequence:
RefSeq Acc Id: XP_024308238   ⟸   XM_024452470
- Peptide Label: isoform X7
- Sequence:
RefSeq Acc Id: XP_024308236   ⟸   XM_024452468
- Peptide Label: isoform X7
- Sequence:
RefSeq Acc Id: XP_024308239   ⟸   XM_024452471
- Peptide Label: isoform X8
- Sequence:
RefSeq Acc Id: ENSP00000381432   ⟸   ENST00000398395
RefSeq Acc Id: ENSP00000344314   ⟸   ENST00000340096
RefSeq Acc Id: ENSP00000369941   ⟸   ENST00000380567
RefSeq Acc Id: ENSP00000369923   ⟸   ENST00000380550
RefSeq Acc Id: ENSP00000507878   ⟸   ENST00000682953
RefSeq Acc Id: ENSP00000507837   ⟸   ENST00000683284
RefSeq Acc Id: ENSP00000508191   ⟸   ENST00000683055
RefSeq Acc Id: ENSP00000507121   ⟸   ENST00000682237
RefSeq Acc Id: ENSP00000507871   ⟸   ENST00000684577
RefSeq Acc Id: ENSP00000507290   ⟸   ENST00000683427
RefSeq Acc Id: ENSP00000507797   ⟸   ENST00000683713
RefSeq Acc Id: ENSP00000506770   ⟸   ENST00000683655
RefSeq Acc Id: ENSP00000507874   ⟸   ENST00000682562
Protein Domains
LisH

Promoters
RGD ID:6809093
Promoter ID:HG_KWN:66038
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000359680,   ENST00000380550,   ENST00000380567,   ENST00000380579,   ENST00000398395,   NM_001011658,   NM_001128835,   NM_003611,   NM_014563,   OTTHUMT00000055806,   OTTHUMT00000055813,   UC004CVQ.2,   UC004CVR.2,   UC004CVS.2,   UC004CVT.2,   UC004CVU.2,   UC004CVV.2,   UC010NEK.1,   UC010NEL.1,   UC010NEM.1,   UC010NEN.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36X13,661,621 - 13,662,892 (+)MPROMDB
RGD ID:6809084
Promoter ID:HG_KWN:66041
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:OTTHUMT00000055811
Position:
Human AssemblyChrPosition (strand)Source
Build 36X13,687,936 - 13,689,177 (+)MPROMDB
RGD ID:13604764
Promoter ID:EPDNEW_H28566
Type:initiation region
Name:OFD1_1
Description:OFD1, centriole and centriolar satellite protein
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28564  EPDNEW_H28567  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X13,734,748 - 13,734,808EPDNEW
RGD ID:13604766
Promoter ID:EPDNEW_H28567
Type:initiation region
Name:OFD1_2
Description:OFD1, centriole and centriolar satellite protein
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28564  EPDNEW_H28566  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X13,734,851 - 13,734,911EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_003611.3(OFD1):c.1634A>G (p.Gln545Arg) single nucleotide variant not provided [RCV000867745]|not specified [RCV000517838] ChrX:13758428 [GRCh38]
ChrX:13776547 [GRCh37]
ChrX:Xp22.2
likely benign|uncertain significance
NM_003611.2(OFD1):c.(?_-360)_828+?del deletion Orofaciodigital syndrome I [RCV000033949] ChrX:13734712..13746953 [GRCh38]
ChrX:13752831..13765072 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_003611.2(OFD1):c.(?_-311)_1542+?del deletion Orofaciodigital syndrome I [RCV000033950] ChrX:13734713..13757790 [GRCh38]
ChrX:13752832..13775909 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_003611.3(OFD1):c.1056-2A>T single nucleotide variant Orofaciodigital syndrome I [RCV000033952] ChrX:13753366 [GRCh38]
ChrX:13771485 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_003611.3(OFD1):c.1071_1078delinsTTTTTCCT (p.Lys358_Asp360delinsPheSerTyr) indel Orofaciodigital syndrome I [RCV000033954] ChrX:13753383..13753390 [GRCh38]
ChrX:13771502..13771509 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_003611.3(OFD1):c.1099C>T (p.Arg367Ter) single nucleotide variant Orofaciodigital syndrome I [RCV000033955] ChrX:13753411 [GRCh38]
ChrX:13771530 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_003611.3(OFD1):c.1100G>A (p.Arg367Gln) single nucleotide variant Orofaciodigital syndrome I [RCV000033956] ChrX:13753412 [GRCh38]
ChrX:13771531 [GRCh37]
ChrX:Xp22.2
pathogenic|uncertain significance
NM_003611.3(OFD1):c.111+2T>C single nucleotide variant Orofaciodigital syndrome I [RCV000033957]|not provided [RCV000080338] ChrX:13735348 [GRCh38]
ChrX:13753467 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_003611.3(OFD1):c.111G>A (p.Lys37=) single nucleotide variant Orofaciodigital syndrome I [RCV000033959] ChrX:13735346 [GRCh38]
ChrX:13753465 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_003611.3(OFD1):c.111G>C (p.Lys37Asn) single nucleotide variant Orofaciodigital syndrome I [RCV000033960] ChrX:13735346 [GRCh38]
ChrX:13753465 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_003611.3(OFD1):c.1130-22_1130-19del deletion Orofaciodigital syndrome I [RCV000033961] ChrX:13755127..13755130 [GRCh38]
ChrX:13773246..13773249 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_003611.3(OFD1):c.1178dup (p.Glu394fs) duplication Orofaciodigital syndrome I [RCV000033962] ChrX:13755193..13755194 [GRCh38]
ChrX:13773312..13773313 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_003611.3(OFD1):c.1185del (p.Glu395fs) deletion Orofaciodigital syndrome I [RCV000033963] ChrX:13755205 [GRCh38]
ChrX:13773324 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_003611.3(OFD1):c.1189_1192AATC[1] (p.Gln398fs) microsatellite Orofaciodigital syndrome I [RCV000033964]|not provided [RCV000146976] ChrX:13755208..13755211 [GRCh38]
ChrX:13773327..13773330 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_003611.3(OFD1):c.121C>T (p.Arg41Ter) single nucleotide variant Orofaciodigital syndrome I [RCV000033965] ChrX:13736487 [GRCh38]
ChrX:13754606 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_003611.3(OFD1):c.1220_1221+1del deletion Orofaciodigital syndrome I [RCV000033966] ChrX:13755240..13755242 [GRCh38]
ChrX:13773359..13773361 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_003611.3(OFD1):c.1221+1del deletion Orofaciodigital syndrome I [RCV000033967] ChrX:13755242 [GRCh38]
ChrX:13773361 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_003611.3(OFD1):c.1263_1267AAAAC[1] (p.Gln423fs) microsatellite Orofaciodigital syndrome I [RCV000033969] ChrX:13756616..13756620 [GRCh38]
ChrX:13774735..13774739 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_003611.3(OFD1):c.1318del (p.Leu439_Leu440insTer) deletion Orofaciodigital syndrome I [RCV000033971] ChrX:13756674 [GRCh38]
ChrX:13774793 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_003611.3(OFD1):c.1319del (p.Leu440fs) deletion Orofaciodigital syndrome I [RCV000033972] ChrX:13756675 [GRCh38]
ChrX:13774794 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_003611.3(OFD1):c.1322_1326del (p.Lys441fs) deletion Orofaciodigital syndrome I [RCV000033973] ChrX:13756676..13756680 [GRCh38]
ChrX:13774795..13774799 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_003611.3(OFD1):c.1323_1326del (p.Glu442fs) deletion Orofaciodigital syndrome I [RCV000033974] ChrX:13756677..13756680 [GRCh38]
ChrX:13774796..13774799 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_003611.3(OFD1):c.1334_1335del (p.Leu445fs) deletion Orofaciodigital syndrome I [RCV000033975] ChrX:13756690..13756691 [GRCh38]
ChrX:13774809..13774810 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_003611.3(OFD1):c.1358T>A (p.Leu453Ter) single nucleotide variant Orofaciodigital syndrome I [RCV000033976] ChrX:13756714 [GRCh38]
ChrX:13774833 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_003611.3(OFD1):c.1360_1363del (p.Leu454fs) deletion Orofaciodigital syndrome I [RCV000033977] ChrX:13756713..13756716 [GRCh38]
ChrX:13774832..13774835 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_003611.3(OFD1):c.1409del (p.Asn470fs) deletion Orofaciodigital syndrome I [RCV000033978] ChrX:13756763 [GRCh38]
ChrX:13774882 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_003611.3(OFD1):c.1420C>T (p.Gln474Ter) single nucleotide variant Orofaciodigital syndrome I [RCV000033979] ChrX:13757668 [GRCh38]
ChrX:13775787 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_003611.3(OFD1):c.1445_1446del (p.Phe482fs) deletion Orofaciodigital syndrome I [RCV000033980] ChrX:13757692..13757693 [GRCh38]
ChrX:13775811..13775812 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_003611.3(OFD1):c.1452_1458del (p.Lys484fs) deletion Orofaciodigital syndrome I [RCV000033981] ChrX:13757699..13757705 [GRCh38]
ChrX:13775818..13775824 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_003611.3(OFD1):c.1587del (p.Ala530fs) deletion Orofaciodigital syndrome I [RCV000033982] ChrX:13758379 [GRCh38]
ChrX:13776498 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_003611.3(OFD1):c.162_166del (p.Ser54fs) deletion Orofaciodigital syndrome I [RCV000033983] ChrX:13736525..13736529 [GRCh38]
ChrX:13754644..13754648 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_003611.3(OFD1):c.1757del (p.Ser586fs) deletion Orofaciodigital syndrome I [RCV000033984] ChrX:13760217 [GRCh38]
ChrX:13778336 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_003611.3(OFD1):c.1821del (p.Ile608fs) deletion Orofaciodigital syndrome I [RCV000033985] ChrX:13760280 [GRCh38]
ChrX:13778399 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_003611.3(OFD1):c.1923G>A (p.Glu641=) single nucleotide variant History of neurodevelopmental disorder [RCV000718907]|Joubert syndrome [RCV000206456]|Orofaciodigital syndrome I [RCV000033987]|not specified [RCV000080341] ChrX:13760383 [GRCh38]
ChrX:13778502 [GRCh37]
ChrX:Xp22.2
benign|conflicting interpretations of pathogenicity
NM_003611.3(OFD1):c.1977_1978CT[1] (p.Ser660fs) microsatellite Orofaciodigital syndrome I [RCV000033988]|not provided [RCV001008095] ChrX:13760437..13760438 [GRCh38]
ChrX:13778556..13778557 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_003611.3(OFD1):c.2044dup (p.Ile682fs) duplication Orofaciodigital syndrome I [RCV000033989] ChrX:13760503..13760504 [GRCh38]
ChrX:13778622..13778623 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_003611.3(OFD1):c.2056del (p.Ser686fs) deletion Orofaciodigital syndrome I [RCV000033990] ChrX:13760515 [GRCh38]
ChrX:13778634 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_003611.3(OFD1):c.2176del (p.Arg726fs) deletion Orofaciodigital syndrome I [RCV000033992] ChrX:13760635 [GRCh38]
ChrX:13778754 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_003611.3(OFD1):c.221C>T (p.Ser74Phe) single nucleotide variant Orofaciodigital syndrome I [RCV000033993] ChrX:13736587 [GRCh38]
ChrX:13754706 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_003611.3(OFD1):c.224A>C (p.Asn75Thr) single nucleotide variant Orofaciodigital syndrome I [RCV000033994] ChrX:13736590 [GRCh38]
ChrX:13754709 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_003611.3(OFD1):c.2261-1G>T single nucleotide variant Orofaciodigital syndrome I [RCV000033995] ChrX:13761084 [GRCh38]
ChrX:13779203 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_003611.2(OFD1):c.2261-?_2387+?del deletion Orofaciodigital syndrome I [RCV000033996] ChrX:13761085..13761211 [GRCh38]
ChrX:13779204..13779330 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_003611.3(OFD1):c.2349del (p.Ile784fs) deletion Orofaciodigital syndrome I [RCV000033997] ChrX:13761172 [GRCh38]
ChrX:13779291 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_003611.3(OFD1):c.235G>A (p.Ala79Thr) single nucleotide variant Orofaciodigital syndrome I [RCV000033998] ChrX:13736601 [GRCh38]
ChrX:13754720 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_003611.3(OFD1):c.241C>G (p.His81Asp) single nucleotide variant Orofaciodigital syndrome I [RCV000033999] ChrX:13736607 [GRCh38]
ChrX:13754726 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_003611.3(OFD1):c.243C>G (p.His81Gln) single nucleotide variant Orofaciodigital syndrome I [RCV000034000] ChrX:13736609 [GRCh38]
ChrX:13754728 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_003611.3(OFD1):c.247C>T (p.Gln83Ter) single nucleotide variant Orofaciodigital syndrome I [RCV000034001] ChrX:13736613 [GRCh38]
ChrX:13754732 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_003611.3(OFD1):c.260A>G (p.Tyr87Cys) single nucleotide variant Joubert syndrome [RCV000687996]|Orofaciodigital syndrome I [RCV000034002] ChrX:13736626 [GRCh38]
ChrX:13754745 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_003611.3(OFD1):c.274T>C (p.Ser92Pro) single nucleotide variant Orofaciodigital syndrome I [RCV000034003] ChrX:13736640 [GRCh38]
ChrX:13754759 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_003611.3(OFD1):c.290A>G (p.Glu97Gly) single nucleotide variant Orofaciodigital syndrome I [RCV000034006] ChrX:13736656 [GRCh38]
ChrX:13754775 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_003611.3(OFD1):c.294_312del (p.Ser98fs) deletion Orofaciodigital syndrome I [RCV000034007] ChrX:13736656..13736674 [GRCh38]
ChrX:13754775..13754793 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_003611.3(OFD1):c.312+3_312+9del deletion Orofaciodigital syndrome I [RCV000034008] ChrX:13736680..13736686 [GRCh38]
ChrX:13754799..13754805 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_003611.2(OFD1):c.313dupG (p.Val105Glyfs) duplication Orofaciodigital syndrome I [RCV000034010] ChrX:13738844..13738845 [GRCh38]
ChrX:13756963..13756964 [GRCh37]
ChrX:Xp22.2
pathogenic|likely pathogenic
NM_003611.3(OFD1):c.337C>T (p.Gln113Ter) single nucleotide variant Orofaciodigital syndrome I [RCV000034011] ChrX:13738870 [GRCh38]
ChrX:13756989 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_003611.3(OFD1):c.372C>G (p.Tyr124Ter) single nucleotide variant Orofaciodigital syndrome I [RCV000034012] ChrX:13738905 [GRCh38]
ChrX:13757024 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_003611.2(OFD1):c.382-?_412+?del deletion Orofaciodigital syndrome I [RCV000034013] ChrX:13739002..13739032 [GRCh38]
ChrX:13757121..13757151 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_003611.3(OFD1):c.382-2A>G single nucleotide variant Orofaciodigital syndrome I [RCV000034014] ChrX:13739000 [GRCh38]
ChrX:13757119 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_003611.3(OFD1):c.382-3C>G single nucleotide variant Orofaciodigital syndrome I [RCV000034015] ChrX:13738999 [GRCh38]
ChrX:13757118 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_003611.3(OFD1):c.400_403del (p.Glu134fs) deletion Joubert syndrome 10 [RCV000590449]|Joubert syndrome [RCV001045035]|Orofaciodigital syndrome I [RCV000034016]|Orofaciodigital syndrome I [RCV000850574]|not provided [RCV001268797] ChrX:13739017..13739020 [GRCh38]
ChrX:13757136..13757139 [GRCh37]
ChrX:Xp22.2
pathogenic|likely pathogenic
NM_003611.3(OFD1):c.411del (p.Gly138fs) deletion Orofaciodigital syndrome I [RCV000034017] ChrX:13739027 [GRCh38]
ChrX:13757146 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_003611.3(OFD1):c.412+2del deletion Orofaciodigital syndrome I [RCV000034018] ChrX:13739034 [GRCh38]
ChrX:13757153 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_003611.3(OFD1):c.412G>A (p.Gly138Ser) single nucleotide variant Orofaciodigital syndrome I [RCV000034019] ChrX:13739032 [GRCh38]
ChrX:13757151 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_003611.3(OFD1):c.431T>A (p.Leu144Ter) single nucleotide variant Orofaciodigital syndrome I [RCV000034021] ChrX:13744433 [GRCh38]
ChrX:13762552 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_003611.3(OFD1):c.431dup (p.Leu144fs) duplication Orofaciodigital syndrome I [RCV000034022] ChrX:13744427..13744428 [GRCh38]
ChrX:13762546..13762547 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_003611.3(OFD1):c.43_44del (p.Gln16fs) deletion Orofaciodigital syndrome I [RCV000034023] ChrX:13735277..13735278 [GRCh38]
ChrX:13753396..13753397 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_003611.3(OFD1):c.454C>T (p.Gln152Ter) single nucleotide variant Orofaciodigital syndrome I [RCV000034025] ChrX:13744456 [GRCh38]
ChrX:13762575 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_003611.2(OFD1):c.518-?_935+?del deletion Orofaciodigital syndrome I [RCV000034026] ChrX:13746319..13749533 [GRCh38]
ChrX:13764438..13767652 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_003611.3(OFD1):c.594_598del (p.Lys199_Leu200insTer) deletion Orofaciodigital syndrome I [RCV000034027] ChrX:13746395..13746399 [GRCh38]
ChrX:13764514..13764518 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_003611.3(OFD1):c.602del (p.Asn201fs) deletion Orofaciodigital syndrome I [RCV000034028] ChrX:13746401 [GRCh38]
ChrX:13764520 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_003611.3(OFD1):c.619_624del (p.Ile207_Glu208del) deletion Orofaciodigital syndrome I [RCV000034029] ChrX:13746416..13746421 [GRCh38]
ChrX:13764535..13764540 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_003611.3(OFD1):c.612_613GA[2] (p.Glu206fs) microsatellite Orofaciodigital syndrome I [RCV000034030] ChrX:13746412..13746413 [GRCh38]
ChrX:13764531..13764532 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_003611.3(OFD1):c.628C>T (p.Gln210Ter) single nucleotide variant Orofaciodigital syndrome I [RCV000034031] ChrX:13746429 [GRCh38]
ChrX:13764548 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_003611.3(OFD1):c.653del (p.Lys218fs) deletion Orofaciodigital syndrome I [RCV000034033] ChrX:13746451 [GRCh38]
ChrX:13764570 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_003611.3(OFD1):c.654+29G>A single nucleotide variant Orofaciodigital syndrome I [RCV000034034] ChrX:13746484 [GRCh38]
ChrX:13764603 [GRCh37]
ChrX:Xp22.2
benign
NM_003611.3(OFD1):c.654+2_654+4del deletion Orofaciodigital syndrome I [RCV000034035] ChrX:13746457..13746459 [GRCh38]
ChrX:13764576..13764578 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_003611.3(OFD1):c.65dup (p.Leu23fs) duplication Orofaciodigital syndrome I [RCV000034036] ChrX:13735295..13735296 [GRCh38]
ChrX:13753414..13753415 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_003611.3(OFD1):c.675del (p.Glu226fs) deletion Orofaciodigital syndrome I [RCV000034037] ChrX:13746799 [GRCh38]
ChrX:13764918 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_003611.3(OFD1):c.707_719del (p.Lys236fs) deletion Orofaciodigital syndrome I [RCV000034039] ChrX:13746828..13746840 [GRCh38]
ChrX:13764947..13764959 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_003611.3(OFD1):c.709_710del (p.Lys237fs) deletion Orofaciodigital syndrome I [RCV000034040] ChrX:13746827..13746828 [GRCh38]
ChrX:13764946..13764947 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_003611.3(OFD1):c.710del (p.Lys237fs) deletion Joubert syndrome [RCV000701027]|Orofaciodigital syndrome I [RCV000034041] ChrX:13746827 [GRCh38]
ChrX:13764946 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_003611.3(OFD1):c.710dup (p.Tyr238fs) duplication Orofaciodigital syndrome I [RCV000034042] ChrX:13746826..13746827 [GRCh38]
ChrX:13764945..13764946 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_003611.3(OFD1):c.712del (p.Tyr238fs) deletion Orofaciodigital syndrome I [RCV000034043] ChrX:13746837 [GRCh38]
ChrX:13764956 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_003611.3(OFD1):c.790dup (p.Glu264fs) duplication Orofaciodigital syndrome I [RCV000034044] ChrX:13746912..13746913 [GRCh38]
ChrX:13765031..13765032 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_003611.3(OFD1):c.823C>T (p.Gln275Ter) single nucleotide variant Orofaciodigital syndrome I [RCV000034045] ChrX:13746948 [GRCh38]
ChrX:13765067 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_003611.2(OFD1):c.837_838delAA (p.Lys280Argfs) deletion Oral-facial-digital syndrome [RCV000034046] ChrX:13749435..13749436 [GRCh38]
ChrX:13767554..13767555 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_003611.3(OFD1):c.840_844del (p.Lys280fs) deletion Orofaciodigital syndrome I [RCV000034047] ChrX:13749435..13749439 [GRCh38]
ChrX:13767554..13767558 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_003611.3(OFD1):c.839_840del (p.Lys280fs) deletion Orofaciodigital syndrome I [RCV000034048] ChrX:13749435..13749436 [GRCh38]
ChrX:13767554..13767555 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_003611.3(OFD1):c.843_844del (p.Glu281fs) deletion Orofaciodigital syndrome I [RCV000034049] ChrX:13749440..13749441 [GRCh38]
ChrX:13767559..13767560 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_003611.3(OFD1):c.858del (p.Arg286fs) deletion Orofaciodigital syndrome I [RCV000034050] ChrX:13749455 [GRCh38]
ChrX:13767574 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_003611.3(OFD1):c.871A>T (p.Lys291Ter) single nucleotide variant Orofaciodigital syndrome I [RCV000034051] ChrX:13749469 [GRCh38]
ChrX:13767588 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_003611.3(OFD1):c.875_876AT[1] (p.Met293fs) microsatellite Orofaciodigital syndrome I [RCV000034052]|not provided [RCV000522417] ChrX:13749473..13749474 [GRCh38]
ChrX:13767592..13767593 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_003611.3(OFD1):c.896_897GA[3] (p.Ala301fs) microsatellite Orofaciodigital syndrome I [RCV000034053] ChrX:13749492..13749493 [GRCh38]
ChrX:13767611..13767612 [GRCh37]
ChrX:Xp22.2
pathogenic|likely pathogenic
NM_003611.3(OFD1):c.919del (p.Val307fs) deletion Orofaciodigital syndrome I [RCV000034054] ChrX:13749517 [GRCh38]
ChrX:13767636 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_003611.2(OFD1):c.936-?_1129+?del deletion Orofaciodigital syndrome I [RCV000034055] ChrX:13751249..13753441 [GRCh38]
ChrX:13769368..13771560 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_003611.3(OFD1):c.-296G>T single nucleotide variant Orofaciodigital syndrome I [RCV000034056] ChrX:13734776 [GRCh38]
ChrX:13752895 [GRCh37]
ChrX:Xp22.2
likely pathogenic|benign
NM_003611.3(OFD1):c.935+706A>G single nucleotide variant Retinitis pigmentosa 23 [RCV000087736] ChrX:13750239 [GRCh38]
ChrX:13768358 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_003611.3(OFD1):c.2022C>A (p.His674Gln) single nucleotide variant not provided [RCV000727942] ChrX:13760482 [GRCh38]
ChrX:13778601 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_003611.3(OFD1):c.730A>G (p.Met244Val) single nucleotide variant not provided [RCV000727997] ChrX:13746855 [GRCh38]
ChrX:13764974 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_003611.3(OFD1):c.227C>T (p.Ser76Phe) single nucleotide variant not provided [RCV000723218] ChrX:13736593 [GRCh38]
ChrX:13754712 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_003611.3(OFD1):c.705A>G (p.Lys235=) single nucleotide variant Joubert syndrome [RCV000551104] ChrX:13746830 [GRCh38]
ChrX:13764949 [GRCh37]
ChrX:Xp22.2
likely benign
NM_003611.3(OFD1):c.2025G>T (p.Leu675Phe) single nucleotide variant History of neurodevelopmental disorder [RCV000715889]|Joubert syndrome [RCV000545002] ChrX:13760485 [GRCh38]
ChrX:13778604 [GRCh37]
ChrX:Xp22.2
benign|uncertain significance
NC_000023.11:g.(?_13735052)_(13744539_?)del deletion Joubert syndrome [RCV000526216] ChrX:13735052..13744539 [GRCh38]
ChrX:13753171..13762658 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_003611.3(OFD1):c.2931C>T (p.Ser977=) single nucleotide variant Joubert syndrome [RCV000558331] ChrX:13768720 [GRCh38]
ChrX:13786839 [GRCh37]
ChrX:Xp22.2
likely benign
OFD1, 19-BP DEL, NT294 deletion Oral-facial-digital syndrome [RCV000012295] ChrX:Xp22.3-p22.2 pathogenic
NM_003611.3(OFD1):c.689_706del (p.Ile230_Lys235del) deletion Joubert syndrome 10 [RCV000029157]|Orofaciodigital syndrome I [RCV000256359] ChrX:13746806..13746823 [GRCh38]
ChrX:13764925..13764942 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_003611.3(OFD1):c.1303A>C (p.Ser435Arg) single nucleotide variant Orofaciodigital syndrome I [RCV000012293] ChrX:13756659 [GRCh38]
ChrX:13774778 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_003611.2(OFD1):c.312+1delG deletion Orofaciodigital syndrome I [RCV000012294] ChrX:13736678 [GRCh38]
ChrX:13754798 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_003611.3(OFD1):c.413-10T>G single nucleotide variant Orofaciodigital syndrome I [RCV000012296] ChrX:13744405 [GRCh38]
ChrX:13762524 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_003611.3(OFD1):c.1888_1889insTA (p.Asn630fs) insertion Orofaciodigital syndrome I [RCV000012297] ChrX:13760347..13760348 [GRCh38]
ChrX:13778466..13778467 [GRCh37]
ChrX:Xp22.2
pathogenic
NG_008872.1:g.16740_20819del4080 deletion Oral-facial-digital syndrome [RCV000012298] ChrX:13746452..13750531 [GRCh38]
ChrX:13764571..13768650 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_003611.3(OFD1):c.2126_2129dup (p.Asn711fs) duplication Orofaciodigital syndrome I [RCV000033991]|Simpson-Golabi-Behmel syndrome, type 2 [RCV000012299] ChrX:13760582..13760583 [GRCh38]
ChrX:13778701..13778702 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_003611.3(OFD1):c.2844_2850del (p.Lys948fs) deletion Joubert syndrome 10 [RCV000012300] ChrX:13768137..13768143 [GRCh38]
ChrX:13786256..13786262 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_003611.3(OFD1):c.2767del (p.Glu923fs) deletion Joubert syndrome 10 [RCV000012301] ChrX:13768063 [GRCh38]
ChrX:13786182 [GRCh37]
ChrX:Xp22.2
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2 copy number gain See cases [RCV000050889] ChrX:3092486..155699618 [GRCh38]
ChrX:3010527..154929279 [GRCh37]
ChrX:3020527..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3 copy number gain See cases [RCV000050810] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1 copy number loss See cases [RCV000050811] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000050699] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss Global developmental delay [RCV000050386]|See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000050697] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52809182)x1 copy number loss See cases [RCV000051026] ChrX:10679..52809182 [GRCh38]
ChrX:60679..52838206 [GRCh37]
ChrX:679..52854931 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3 copy number gain See cases [RCV000052322] ChrX:26101..155999293 [GRCh38]
ChrX:76101..155228958 [GRCh37]
ChrX:16101..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3 copy number gain See cases [RCV000052359] ChrX:2790845..155699618 [GRCh38]
ChrX:2708886..154929279 [GRCh37]
ChrX:2718886..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|See cases [RCV000052327] ChrX:237659..156022362 [GRCh38]
ChrX:154326..155252027 [GRCh37]
ChrX:94326..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 copy number gain See cases [RCV000052324] ChrX:27245..155996431 [GRCh38]
ChrX:77245..155226096 [GRCh37]
ChrX:17245..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.31-22.2(chrX:7992018-14435892)x2 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052361]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052361]|See cases [RCV000052361] ChrX:7992018..14435892 [GRCh38]
ChrX:7960059..14454014 [GRCh37]
ChrX:7920059..14363935 [NCBI36]
ChrX:Xp22.31-22.2
pathogenic
GRCh38/hg38 Xp22.31-22.2(chrX:9038047-16646589)x2 copy number gain See cases [RCV000052362] ChrX:9038047..16646589 [GRCh38]
ChrX:9006088..16664712 [GRCh37]
ChrX:8966088..16574633 [NCBI36]
ChrX:Xp22.31-22.2
pathogenic
GRCh38/hg38 Xp22.33-11.3(chrX:675360-46016699)x3 copy number gain See cases [RCV000052328] ChrX:675360..46016699 [GRCh38]
ChrX:636095..45876134 [GRCh37]
ChrX:556095..45761078 [NCBI36]
ChrX:Xp22.33-11.3
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3 copy number gain See cases [RCV000052325] ChrX:40704..156022362 [GRCh38]
ChrX:90704..155252027 [GRCh37]
ChrX:30704..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss Global developmental delay [RCV000052986]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|Intellectual functioning disability [RCV000052988]|Global developmental delay [RCV000052989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10679-48344725)x1 copy number loss See cases [RCV000052981] ChrX:10679..48344725 [GRCh38]
ChrX:60679..48204160 [GRCh37]
ChrX:679..48089104 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.33-q22.1(chrX:675360-100368517)x1 copy number loss See cases [RCV000053005] ChrX:675360..100368517 [GRCh38]
ChrX:636095..99623515 [GRCh37]
ChrX:556095..99510171 [NCBI36]
ChrX:Xp22.33-q22.1
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:2769041-58055036)x1 copy number loss See cases [RCV000053007] ChrX:2769041..58055036 [GRCh38]
ChrX:2687082..58081470 [GRCh37]
ChrX:2697082..58098195 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss Hypoplastic left heart [RCV000052982]|See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:26102-57302794)x1 copy number loss See cases [RCV000052990] ChrX:26102..57302794 [GRCh38]
ChrX:76102..57329227 [GRCh37]
ChrX:16102..57345952 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-22.11(chrX:253129-23023165)x1 copy number loss See cases [RCV000052993] ChrX:253129..23023165 [GRCh38]
ChrX:169796..23041282 [GRCh37]
ChrX:109796..22951203 [NCBI36]
ChrX:Xp22.33-22.11
pathogenic
GRCh38/hg38 Xp22.33-11.1(chrX:253129-58271563)x1 copy number loss See cases [RCV000052994] ChrX:253129..58271563 [GRCh38]
ChrX:169796..58297997 [GRCh37]
ChrX:109796..58314722 [NCBI36]
ChrX:Xp22.33-11.1
pathogenic
GRCh38/hg38 Xp22.33-22.12(chrX:10679-21811030)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052970]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052970]|See cases [RCV000052970] ChrX:10679..21811030 [GRCh38]
ChrX:60679..21829148 [GRCh37]
ChrX:679..21739069 [NCBI36]
ChrX:Xp22.33-22.12
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain Global developmental delay [RCV000052984]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10679-55550898)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]|See cases [RCV000052971] ChrX:10679..55550898 [GRCh38]
ChrX:60679..55577331 [GRCh37]
ChrX:679..55594056 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.2(chrX:12988378-13963060)x3 copy number gain See cases [RCV000054145] ChrX:12988378..13963060 [GRCh38]
ChrX:13006497..13981179 [GRCh37]
ChrX:12916418..13891100 [NCBI36]
ChrX:Xp22.2
uncertain significance
GRCh38/hg38 Xp22.2(chrX:13325258-13744416)x2 copy number gain See cases [RCV000054148] ChrX:13325258..13744416 [GRCh38]
ChrX:13343377..13762535 [GRCh37]
ChrX:13253298..13672456 [NCBI36]
ChrX:Xp22.2
uncertain significance
GRCh38/hg38 Xp22.33-11.22(chrX:10479-54179172)x3 copy number gain See cases [RCV000053817] ChrX:10479..54179172 [GRCh38]
ChrX:60479..53957191 [GRCh37]
ChrX:479..54222330 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
NM_003611.3(OFD1):c.111+3A>G single nucleotide variant Orofaciodigital syndrome I [RCV000033958] ChrX:13735349 [GRCh38]
ChrX:13753468 [GRCh37]
ChrX:Xp22.2
benign
NM_003611.3(OFD1):c.1129+16A>G single nucleotide variant not specified [RCV000080339] ChrX:13753457 [GRCh38]
ChrX:13771576 [GRCh37]
ChrX:Xp22.2
benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_003611.3(OFD1):c.1543-2A>C single nucleotide variant not provided [RCV000080340] ChrX:13758335 [GRCh38]
ChrX:13776454 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_003611.3(OFD1):c.458_459dup (p.Lys154fs) duplication not provided [RCV000080342] ChrX:13744459..13744460 [GRCh38]
ChrX:13762578..13762579 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_003611.3(OFD1):c.54A>G (p.Glu18=) single nucleotide variant not provided [RCV000723696]|not specified [RCV000251169] ChrX:13735289 [GRCh38]
ChrX:13753408 [GRCh37]
ChrX:Xp22.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_003611.3(OFD1):c.2052C>G (p.Ser684=) single nucleotide variant History of neurodevelopmental disorder [RCV000716968]|Joubert syndrome [RCV000559679]|not specified [RCV000175045] ChrX:13760512 [GRCh38]
ChrX:13778631 [GRCh37]
ChrX:Xp22.2
benign
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4 copy number gain See cases [RCV000133654] ChrX:10679..156022826 [GRCh38]
ChrX:60679..155252491 [GRCh37]
ChrX:679..154905685 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
NM_003611.3(OFD1):c.929T>C (p.Phe310Ser) single nucleotide variant Inborn genetic diseases [RCV000190751] ChrX:13749527 [GRCh38]
ChrX:13767646 [GRCh37]
ChrX:Xp22.2
likely pathogenic
NM_003611.3(OFD1):c.2784_2788TAAAA[1] (p.Ile930fs) microsatellite Inborn genetic diseases [RCV000190791]|Joubert syndrome [RCV000688416] ChrX:13768080..13768084 [GRCh38]
ChrX:13786199..13786203 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_003611.3(OFD1):c.1246del (p.Gln416fs) deletion Orofacial-digital syndrome III [RCV000256422] ChrX:13756600 [GRCh38]
ChrX:13774719 [GRCh37]
ChrX:Xp22.2
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-52857805)x1 copy number loss See cases [RCV000133817] ChrX:10701..52857805 [GRCh38]
ChrX:60701..52886834 [GRCh37]
ChrX:701..52903559 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
NM_003611.3(OFD1):c.936-2A>G single nucleotide variant Congenital anomalies of kidney and urinary tract [RCV001254710]|Joubert syndrome [RCV001088503]|not provided [RCV000173783] ChrX:13751247 [GRCh38]
ChrX:13769366 [GRCh37]
ChrX:Xp22.2
benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1 copy number loss See cases [RCV000133792] ChrX:10701..155978689 [GRCh38]
ChrX:60701..155208354 [GRCh37]
ChrX:701..154861548 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:4245..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
NM_003611.3(OFD1):c.2668C>T (p.Arg890Ter) single nucleotide variant Joubert syndrome 10 [RCV000201562]|not provided [RCV000484195] ChrX:13767195 [GRCh38]
ChrX:13785314 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_003611.3(OFD1):c.1399C>T (p.Arg467Cys) single nucleotide variant not provided [RCV000174527] ChrX:13756755 [GRCh38]
ChrX:13774874 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_003611.3(OFD1):c.1020G>A (p.Glu340=) single nucleotide variant History of neurodevelopmental disorder [RCV000716959]|Joubert syndrome [RCV000476529]|not specified [RCV000146975] ChrX:13751333 [GRCh38]
ChrX:13769452 [GRCh37]
ChrX:Xp22.2
benign
NM_003611.3(OFD1):c.1264A>G (p.Lys422Glu) single nucleotide variant History of neurodevelopmental disorder [RCV000715650]|Joubert syndrome [RCV001088416]|not provided [RCV000839199]|not specified [RCV000146977] ChrX:13756620 [GRCh38]
ChrX:13774739 [GRCh37]
ChrX:Xp22.2
benign|likely benign|conflicting interpretations of pathogenicity
NM_003611.3(OFD1):c.1332del (p.Lys444fs) deletion not provided [RCV000146978] ChrX:13756686 [GRCh38]
ChrX:13774805 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_003611.3(OFD1):c.1654+8A>G single nucleotide variant Joubert syndrome [RCV000469882]|not specified [RCV000378495] ChrX:13758456 [GRCh38]
ChrX:13776575 [GRCh37]
ChrX:Xp22.2
benign|uncertain significance
NM_003611.3(OFD1):c.2033C>G (p.Ala678Gly) single nucleotide variant History of neurodevelopmental disorder [RCV000721044]|Joubert syndrome [RCV001088497]|not provided [RCV000146980]|not specified [RCV000435088] ChrX:13760493 [GRCh38]
ChrX:13778612 [GRCh37]
ChrX:Xp22.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_003611.3(OFD1):c.2052C>T (p.Ser684=) single nucleotide variant History of neurodevelopmental disorder [RCV000716486]|Joubert syndrome [RCV000456906]|not specified [RCV000146981] ChrX:13760512 [GRCh38]
ChrX:13778631 [GRCh37]
ChrX:Xp22.2
benign|likely benign|conflicting interpretations of pathogenicity
NM_003611.3(OFD1):c.231A>C (p.Leu77Phe) single nucleotide variant Orofaciodigital syndrome I [RCV000146982] ChrX:13736597 [GRCh38]
ChrX:13754716 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_003611.3(OFD1):c.2376G>A (p.Glu792=) single nucleotide variant History of neurodevelopmental disorder [RCV000719465]|Joubert syndrome [RCV000205304]|not specified [RCV000146983] ChrX:13761200 [GRCh38]
ChrX:13779319 [GRCh37]
ChrX:Xp22.2
benign
NM_003611.3(OFD1):c.2387+11C>T single nucleotide variant not specified [RCV000146984] ChrX:13761222 [GRCh38]
ChrX:13779341 [GRCh37]
ChrX:Xp22.2
benign
NM_003611.3(OFD1):c.2663A>C (p.Lys888Thr) single nucleotide variant History of neurodevelopmental disorder [RCV000719045]|Joubert syndrome [RCV000477252]|not specified [RCV000146985] ChrX:13767190 [GRCh38]
ChrX:13785309 [GRCh37]
ChrX:Xp22.2
benign
NM_003611.3(OFD1):c.714T>C (p.Tyr238=) single nucleotide variant Joubert syndrome [RCV000230007]|not specified [RCV000146986] ChrX:13746839 [GRCh38]
ChrX:13764958 [GRCh37]
ChrX:Xp22.2
benign|likely benign|conflicting interpretations of pathogenicity
GRCh38/hg38 Xp22.33-11.23(chrX:10679-50059388)x1 copy number loss See cases [RCV000133745] ChrX:10679..50059388 [GRCh38]
ChrX:60679..49824045 [GRCh37]
ChrX:679..49710785 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3 copy number gain See cases [RCV000134564] ChrX:20297..155999253 [GRCh38]
ChrX:70297..155228918 [GRCh37]
ChrX:10297..154882112 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q11.1(chrX:10701-62712219)x1 copy number loss See cases [RCV000134568] ChrX:10701..62712219 [GRCh38]
ChrX:60701..61931689 [GRCh37]
ChrX:701..61848414 [NCBI36]
ChrX:Xp22.33-q11.1
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055053)x1 copy number loss See cases [RCV000134026] ChrX:10701..58055053 [GRCh38]
ChrX:60701..58081487 [GRCh37]
ChrX:701..58098212 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1 copy number loss See cases [RCV000133947] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3 copy number gain See cases [RCV000133911] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|likely pathogenic|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1 copy number loss See cases [RCV000135321] ChrX:20297..156026127 [GRCh38]
ChrX:70297..155255792 [GRCh37]
ChrX:10297..154908986 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.31-11.22(chrX:8176030-53962833)x1 copy number loss See cases [RCV000135305] ChrX:8176030..53962833 [GRCh38]
ChrX:8144071..53989266 [GRCh37]
ChrX:8104071..54005991 [NCBI36]
ChrX:Xp22.31-11.22
pathogenic
GRCh38/hg38 Xp22.33-21.1(chrX:233335-37292980)x1 copy number loss See cases [RCV000135299] ChrX:233335..37292980 [GRCh38]
ChrX:150002..37152232 [GRCh37]
ChrX:90002..37037153 [NCBI36]
ChrX:Xp22.33-21.1
pathogenic
NM_003611.3(OFD1):c.2168C>T (p.Ser723Leu) single nucleotide variant Joubert syndrome [RCV000701169]|not provided [RCV000175046] ChrX:13760628 [GRCh38]
ChrX:13778747 [GRCh37]
ChrX:Xp22.2
uncertain significance
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52857805)x3 copy number gain See cases [RCV000134957] ChrX:10679..52857805 [GRCh38]
ChrX:60679..52886834 [GRCh37]
ChrX:679..52903559 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-21.1(chrX:10679-36186635)x1 copy number loss See cases [RCV000135551] ChrX:10679..36186635 [GRCh38]
ChrX:60679..36202463 [GRCh37]
ChrX:679..36114673 [NCBI36]
ChrX:Xp22.33-21.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1 copy number loss See cases [RCV000136097] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1 copy number loss See cases [RCV000136478] ChrX:40904..155998166 [GRCh38]
ChrX:90904..155227831 [GRCh37]
ChrX:30904..154881025 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-22.2(chrX:2936461-17287323)x2 copy number gain See cases [RCV000135895] ChrX:2936461..17287323 [GRCh38]
ChrX:2854502..17305446 [GRCh37]
ChrX:2864502..17215367 [NCBI36]
ChrX:Xp22.33-22.2
pathogenic
GRCh38/hg38 Xp22.33-q25(chrX:10701-128393708) copy number loss See cases [RCV000136094] ChrX:10701..128393708 [GRCh38]
ChrX:60701..127527686 [GRCh37]
ChrX:701..127355367 [NCBI36]
ChrX:Xp22.33-q25
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1 copy number loss See cases [RCV000136005] ChrX:10001..156030895 [GRCh38]
ChrX:60001..155260560 [GRCh37]
ChrX:1..154913754 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q13.3(chrX:10679-76420505)x3 copy number gain See cases [RCV000137137] ChrX:10679..76420505 [GRCh38]
ChrX:60679..75640898 [GRCh37]
ChrX:679..75557302 [NCBI36]
ChrX:Xp22.33-q13.3
pathogenic|likely benign
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52213731)x1 copy number loss See cases [RCV000137112] ChrX:10679..52213731 [GRCh38]
ChrX:60679..51948998 [GRCh37]
ChrX:679..51973598 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic|uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3 copy number gain See cases [RCV000136791] ChrX:2765636..155522304 [GRCh38]
ChrX:2683677..154751965 [GRCh37]
ChrX:2693677..154405159 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2 copy number gain See cases [RCV000136841] ChrX:2782275..155611794 [GRCh38]
ChrX:2700316..154785891 [GRCh37]
ChrX:2710316..154494649 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-52033734)x1 copy number loss See cases [RCV000137430] ChrX:10701..52033734 [GRCh38]
ChrX:60701..51776830 [GRCh37]
ChrX:701..51793570 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055036)x1 copy number loss See cases [RCV000137552] ChrX:10701..58055036 [GRCh38]
ChrX:60701..58081470 [GRCh37]
ChrX:701..58098195 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-22.2(chrX:10679-16187419)x1 copy number loss See cases [RCV000137252] ChrX:10679..16187419 [GRCh38]
ChrX:60679..16205542 [GRCh37]
ChrX:679..16115463 [NCBI36]
ChrX:Xp22.33-22.2
pathogenic
GRCh38/hg38 Xp22.33-22.12(chrX:10701-21866242)x3 copy number gain See cases [RCV000137383] ChrX:10701..21866242 [GRCh38]
ChrX:60701..21884360 [GRCh37]
ChrX:701..21794281 [NCBI36]
ChrX:Xp22.33-22.12
uncertain significance
GRCh38/hg38 Xp22.33-11.23(chrX:10701-49071220)x1 copy number loss See cases [RCV000137413] ChrX:10701..49071220 [GRCh38]
ChrX:60701..48928877 [GRCh37]
ChrX:701..48815821 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10679-49157514)x1 copy number loss See cases [RCV000137166] ChrX:10679..49157514 [GRCh38]
ChrX:60679..49016667 [GRCh37]
ChrX:679..48903611 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.2(chrX:12994517-13943533)x3 copy number gain See cases [RCV000138061] ChrX:12994517..13943533 [GRCh38]
ChrX:13012636..13961652 [GRCh37]
ChrX:12922557..13871573 [NCBI36]
ChrX:Xp22.2
pathogenic
GRCh38/hg38 Xp22.2-21.2(chrX:12254555-30410580)x1 copy number loss See cases [RCV000138069] ChrX:12254555..30410580 [GRCh38]
ChrX:12272674..30428697 [GRCh37]
ChrX:12182595..30338618 [NCBI36]
ChrX:Xp22.2-21.2
pathogenic|likely pathogenic
GRCh38/hg38 Xp22.33-21.1(chrX:10701-37723318)x1 copy number loss See cases [RCV000138019] ChrX:10701..37723318 [GRCh38]
ChrX:60701..37318587 [GRCh37]
ChrX:701..37467510 [NCBI36]
ChrX:Xp22.33-21.1
pathogenic
GRCh38/hg38 Xp22.31-22.2(chrX:9239101-16721153)x1 copy number loss See cases [RCV000137753] ChrX:9239101..16721153 [GRCh38]
ChrX:9207141..16739276 [GRCh37]
ChrX:9167141..16649197 [NCBI36]
ChrX:Xp22.31-22.2
uncertain significance
GRCh38/hg38 Xp22.33-q22.3(chrX:10701-106113403)x1 copy number loss See cases [RCV000137886] ChrX:10701..106113403 [GRCh38]
ChrX:60701..105357395 [GRCh37]
ChrX:701..105244051 [NCBI36]
ChrX:Xp22.33-q22.3
pathogenic
GRCh38/hg38 Xp22.2-q27.3(chrX:13020141-143473520)x1 copy number loss See cases [RCV000138678] ChrX:13020141..143473520 [GRCh38]
ChrX:13038260..142561303 [GRCh37]
ChrX:12948181..142388969 [NCBI36]
ChrX:Xp22.2-q27.3
pathogenic
GRCh38/hg38 Xp22.33-11.1(chrX:10701-58517661)x1 copy number loss See cases [RCV000139343] ChrX:10701..58517661 [GRCh38]
ChrX:60701..58544094 [GRCh37]
ChrX:701..58560819 [NCBI36]
ChrX:Xp22.33-11.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1 copy number loss See cases [RCV000139278] ChrX:1085618..155699644 [GRCh38]
ChrX:1118268..154929305 [GRCh37]
ChrX:1038268..154582499 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.2(chrX:13750109-13831746)x3 copy number gain See cases [RCV000139410] ChrX:13750109..13831746 [GRCh38]
ChrX:13768228..13849865 [GRCh37]
ChrX:13678149..13759786 [NCBI36]
ChrX:Xp22.2
likely benign
GRCh38/hg38 Xp22.33-q21.31(chrX:10701-88318651)x1 copy number loss See cases [RCV000139352] ChrX:10701..88318651 [GRCh38]
ChrX:60701..87573652 [GRCh37]
ChrX:701..87460308 [NCBI36]
ChrX:Xp22.33-q21.31
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3 copy number gain See cases [RCV000139888] ChrX:251880..156004181 [GRCh38]
ChrX:168547..155233846 [GRCh37]
ChrX:108547..154887040 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.4(chrX:3909315-38682287)x3 copy number gain See cases [RCV000141261] ChrX:3909315..38682287 [GRCh38]
ChrX:3827356..38541541 [GRCh37]
ChrX:3837356..38426485 [NCBI36]
ChrX:Xp22.33-11.4
uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3 copy number gain See cases [RCV000141400] ChrX:2299223..155992188 [GRCh38]
ChrX:2217264..155221853 [GRCh37]
ChrX:2227264..154875047 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3 copy number gain See cases [RCV000141401] ChrX:20297..156016920 [GRCh38]
ChrX:70297..155246585 [GRCh37]
ChrX:10297..154899779 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.2(chrX:12981073-13773690)x2 copy number gain See cases [RCV000140919] ChrX:12981073..13773690 [GRCh38]
ChrX:12999192..13791809 [GRCh37]
ChrX:12909113..13701730 [NCBI36]
ChrX:Xp22.2
uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4 copy number gain See cases [RCV000140786] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-53750424)x1 copy number loss See cases [RCV000140711] ChrX:10701..53750424 [GRCh38]
ChrX:60701..53776922 [GRCh37]
ChrX:701..53793647 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1 copy number loss See cases [RCV000140787] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic|conflicting data from submitters
GRCh38/hg38 Xp22.33-11.22(chrX:251879-50289363)x1 copy number loss See cases [RCV000141741] ChrX:251879..50289363 [GRCh38]
ChrX:168546..50032363 [GRCh37]
ChrX:108546..50049103 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q12(chrX:251880-66445845)x1 copy number loss See cases [RCV000142334] ChrX:251880..66445845 [GRCh38]
ChrX:168547..65665687 [GRCh37]
ChrX:108547..65582412 [NCBI36]
ChrX:Xp22.33-q12
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:251880-51643625)x1 copy number loss See cases [RCV000142035] ChrX:251880..51643625 [GRCh38]
ChrX:168547..51386559 [GRCh37]
ChrX:108547..51403299 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q24(chrX:251879-118847157)x3 copy number gain See cases [RCV000142134] ChrX:251879..118847157 [GRCh38]
ChrX:168546..117981120 [GRCh37]
ChrX:108546..117865148 [NCBI36]
ChrX:Xp22.33-q24
pathogenic
GRCh38/hg38 Xp22.33-22.2(chrX:251879-16967290)x1 copy number loss See cases [RCV000142053] ChrX:251879..16967290 [GRCh38]
ChrX:168546..16985413 [GRCh37]
ChrX:108546..16895334 [NCBI36]
ChrX:Xp22.33-22.2
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3 copy number gain See cases [RCV000142625] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1 copy number loss See cases [RCV000143441] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:108546..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3 copy number gain See cases [RCV000143433] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-53131191)x1 copy number loss See cases [RCV000143348] ChrX:10701..53131191 [GRCh38]
ChrX:60701..53047381 [GRCh37]
ChrX:701..53177098 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:251879-56428859)x1 copy number loss See cases [RCV000143130] ChrX:251879..56428859 [GRCh38]
ChrX:168546..56455292 [GRCh37]
ChrX:108546..56472017 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3 copy number gain See cases [RCV000143219] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:108547..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.2(chrX:12994517-13957317)x3 copy number gain See cases [RCV000143184] ChrX:12994517..13957317 [GRCh38]
ChrX:13012636..13975436 [GRCh37]
ChrX:12922557..13885357 [NCBI36]
ChrX:Xp22.2
uncertain significance
GRCh38/hg38 Xp22.2-22.12(chrX:12856740-19380317)x2 copy number gain See cases [RCV000143774] ChrX:12856740..19380317 [GRCh38]
ChrX:12874859..19398435 [GRCh37]
ChrX:12784780..19308356 [NCBI36]
ChrX:Xp22.2-22.12
likely pathogenic
GRCh38/hg38 Xp22.33-21.1(chrX:251879-35885004)x1 copy number loss See cases [RCV000143496] ChrX:251879..35885004 [GRCh38]
ChrX:168546..35903121 [GRCh37]
ChrX:108546..35813042 [NCBI36]
ChrX:Xp22.33-21.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000148141] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000148135] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
NM_003611.3(OFD1):c.1294A>G (p.Lys432Glu) single nucleotide variant Joubert syndrome [RCV000168046] ChrX:13756650 [GRCh38]
ChrX:13774769 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_003611.2(OFD1):c.(?_-1)_(*1_?)dup duplication Orofaciodigital syndrome I [RCV000168449]   uncertain significance
NM_003611.3(OFD1):c.1469A>G (p.Glu490Gly) single nucleotide variant not specified [RCV000192458] ChrX:13757717 [GRCh38]
ChrX:13775836 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_003611.2:c.1051-2>G single nucleotide variant Orofaciodigital syndrome I [RCV000033951] ChrX:Xp22.3-p22.2 pathogenic
NM_003611.2:c.1056C>G single nucleotide variant Orofaciodigital syndrome I [RCV000033953] ChrX:Xp22.3-p22.2 pathogenic
NM_003611.2(OFD1):c.1222-?_(*_?)del deletion Orofaciodigital syndrome I [RCV000033968]   pathogenic
OFD1:c.653-6A>G single nucleotide variant Orofaciodigital syndrome I [RCV000034032] ChrX:Xp22.3-p22.2 benign
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 copy number gain See cases [RCV000240122] ChrX:71267..155246643 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_003611.3(OFD1):c.12+28G>C single nucleotide variant not specified [RCV000194256] ChrX:13735111 [GRCh38]
ChrX:13753230 [GRCh37]
ChrX:Xp22.2
likely benign
NM_003611.3(OFD1):c.2584T>G (p.Ser862Ala) single nucleotide variant Joubert syndrome [RCV001223911]|not specified [RCV000192398] ChrX:13763840 [GRCh38]
ChrX:13781959 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_003611.3(OFD1):c.1399C>A (p.Arg467Ser) single nucleotide variant Joubert syndrome [RCV000196961] ChrX:13756755 [GRCh38]
ChrX:13774874 [GRCh37]
ChrX:Xp22.2
likely pathogenic|uncertain significance
NM_003611.3(OFD1):c.2619T>A (p.Ile873=) single nucleotide variant History of neurodevelopmental disorder [RCV000717027]|not specified [RCV000193601] ChrX:13767146 [GRCh38]
ChrX:13785265 [GRCh37]
ChrX:Xp22.2
likely benign|uncertain significance
NM_003611.3(OFD1):c.2631G>A (p.Lys877=) single nucleotide variant History of neurodevelopmental disorder [RCV000717032]|not specified [RCV000194850] ChrX:13767158 [GRCh38]
ChrX:13785277 [GRCh37]
ChrX:Xp22.2
likely benign|uncertain significance
NM_003611.3(OFD1):c.2140G>A (p.Val714Met) single nucleotide variant Joubert syndrome [RCV000792869]|not specified [RCV000194907] ChrX:13760600 [GRCh38]
ChrX:13778719 [GRCh37]
ChrX:Xp22.2
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3 copy number gain See cases [RCV000239843] ChrX:176426..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.2(chrX:13568142-13833518)x2 copy number gain See cases [RCV000240156] ChrX:13568142..13833518 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_003611.3(OFD1):c.149A>G (p.His50Arg) single nucleotide variant Joubert syndrome 10 [RCV000201618]|Joubert syndrome [RCV001307208] ChrX:13736515 [GRCh38]
ChrX:13754634 [GRCh37]
ChrX:Xp22.2
pathogenic|uncertain significance
NM_003611.3(OFD1):c.277G>T (p.Val93Phe) single nucleotide variant Joubert syndrome 10 [RCV000201699] ChrX:13736643 [GRCh38]
ChrX:13754762 [GRCh37]
ChrX:Xp22.2
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1 copy number loss See cases [RCV000239832] ChrX:71267..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x1 copy number loss See cases [RCV000239814] ChrX:70297..58066465 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3 copy number gain See cases [RCV000239798] ChrX:13147668..155250222 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
NM_003611.3(OFD1):c.355C>A (p.Pro119Thr) single nucleotide variant not provided [RCV000205740] ChrX:13738888 [GRCh38]
ChrX:13757007 [GRCh37]
ChrX:Xp22.2
likely benign
NM_003611.3(OFD1):c.1007dup (p.Ser337fs) duplication Joubert syndrome [RCV000204073]|not provided [RCV000487403] ChrX:13751317..13751318 [GRCh38]
ChrX:13769436..13769437 [GRCh37]
ChrX:Xp22.2
pathogenic|uncertain significance
NM_003611.3(OFD1):c.1698C>T (p.Ile566=) single nucleotide variant Joubert syndrome [RCV000554320] ChrX:13760158 [GRCh38]
ChrX:13778277 [GRCh37]
ChrX:Xp22.2
likely benign
NM_003611.3(OFD1):c.2615_2619del (p.Gln872fs) deletion Primary ciliary dyskinesia [RCV000757955] ChrX:13767142..13767146 [GRCh38]
ChrX:13785261..13785265 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_003611.3(OFD1):c.2197C>T (p.Arg733Cys) single nucleotide variant Joubert syndrome [RCV000697743] ChrX:13760657 [GRCh38]
ChrX:13778776 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_003611.3(OFD1):c.1427C>T (p.Ala476Val) single nucleotide variant Joubert syndrome [RCV000555378] ChrX:13757675 [GRCh38]
ChrX:13775794 [GRCh37]
ChrX:Xp22.2
uncertain significance
GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x3 copy number gain See cases [RCV000239834] ChrX:70297..58066465 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_003611.3(OFD1):c.2044A>C (p.Ile682Leu) single nucleotide variant History of neurodevelopmental disorder [RCV000716665]|Joubert syndrome [RCV000232480]|not specified [RCV000367692] ChrX:13760504 [GRCh38]
ChrX:13778623 [GRCh37]
ChrX:Xp22.2
benign|uncertain significance
NM_003611.2(OFD1):c.-359-?_*253+?dup duplication Joubert syndrome [RCV000226779]   uncertain significance
NM_003611.3(OFD1):c.412+1G>T single nucleotide variant Orofaciodigital syndrome I [RCV000677728] ChrX:13739033 [GRCh38]
ChrX:13757152 [GRCh37]
ChrX:Xp22.2
likely pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2 copy number gain See cases [RCV000240106] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2 copy number gain See cases [RCV000239874] ChrX:71267..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3 copy number gain See cases [RCV000239934] ChrX:70297..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3 copy number gain See cases [RCV000239989] ChrX:60701..155246271 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1 copy number loss See cases [RCV000239902] ChrX:71267..155224766 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3 copy number gain See cases [RCV000240314] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_003611.3(OFD1):c.2260+8A>G single nucleotide variant not specified [RCV000253319] ChrX:13760728 [GRCh38]
ChrX:13778847 [GRCh37]
ChrX:Xp22.2
likely benign
NM_003611.3(OFD1):c.517+20T>C single nucleotide variant not specified [RCV000246438] ChrX:13744539 [GRCh38]
ChrX:13762658 [GRCh37]
ChrX:Xp22.2
likely benign
NM_003611.3(OFD1):c.1654+14T>A single nucleotide variant not specified [RCV000248772] ChrX:13758462 [GRCh38]
ChrX:13776581 [GRCh37]
ChrX:Xp22.2
likely benign
NM_003611.3(OFD1):c.1543-19C>G single nucleotide variant not specified [RCV000244006] ChrX:13758318 [GRCh38]
ChrX:13776437 [GRCh37]
ChrX:Xp22.2
likely benign
GRCh37/hg19 Xp22.33-21.1(chrX:71267-35809046)x1 copy number loss See cases [RCV000240335] ChrX:71267..35809046 [GRCh37]
ChrX:Xp22.33-21.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_003611.3(OFD1):c.62_63insT (p.Lys21fs) insertion Orofaciodigital syndrome I [RCV000256355] ChrX:13735297..13735298 [GRCh38]
ChrX:13753416..13753417 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_003611.3(OFD1):c.518-1G>A single nucleotide variant Orofaciodigital syndrome I [RCV000256356] ChrX:13746318 [GRCh38]
ChrX:13764437 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_003611.3(OFD1):c.275_276del (p.Ser92fs) deletion Orofaciodigital syndrome I [RCV000256357] ChrX:13736640..13736641 [GRCh38]
ChrX:13754759..13754760 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_003611.3(OFD1):c.1991dup (p.Leu665fs) duplication Orofaciodigital syndrome I [RCV000256358] ChrX:13760448..13760449 [GRCh38]
ChrX:13778567..13778568 [GRCh37]
ChrX:Xp22.2
pathogenic
NP_003602.1:p.230_235delIKMEAK deletion Oral-facial-digital syndrome [RCV000256359]   pathogenic
NM_003611.3(OFD1):c.338A>G (p.Gln113Arg) single nucleotide variant not specified [RCV000518574] ChrX:13738871 [GRCh38]
ChrX:13756990 [GRCh37]
ChrX:Xp22.2
uncertain significance
GRCh37/hg19 Xp22.33-21.3(chrX:1378591-25940311)x2 copy number gain See cases [RCV000240441] ChrX:1378591..25940311 [GRCh37]
ChrX:Xp22.33-21.3
pathogenic
NM_003611.3(OFD1):c.52G>T (p.Glu18Ter) single nucleotide variant Orofaciodigital syndrome I [RCV000256360] ChrX:13735287 [GRCh38]
ChrX:13753406 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_003611.3(OFD1):c.422T>G (p.Met141Arg) single nucleotide variant Orofaciodigital syndrome I [RCV000256361] ChrX:13744424 [GRCh38]
ChrX:13762543 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_003611.3(OFD1):c.1612C>T (p.Gln538Ter) single nucleotide variant Orofaciodigital syndrome I [RCV000256362] ChrX:13758406 [GRCh38]
ChrX:13776525 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_003611.3(OFD1):c.541dup (p.Asp181fs) duplication Orofaciodigital syndrome I [RCV000256363] ChrX:13746341..13746342 [GRCh38]
ChrX:13764460..13764461 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_003611.2(OFD1):c.(?_-359)_(*253_?)del deletion Orofaciodigital syndrome I [RCV000256364]   pathogenic
NM_003611.3(OFD1):c.147dup (p.His50fs) duplication Orofaciodigital syndrome I [RCV000256365] ChrX:13736512..13736513 [GRCh38]
ChrX:13754631..13754632 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_003611.3(OFD1):c.506_507GA[1] (p.Asp170fs) microsatellite Orofaciodigital syndrome I [RCV000256366] ChrX:13744507..13744508 [GRCh38]
ChrX:13762626..13762627 [GRCh37]
ChrX:Xp22.2
pathogenic
NP_003602.1:p.Ser620Cysfs*8 deletion Orofaciodigital syndrome I [RCV000256367] ChrX:Xp22.2 pathogenic
NM_003611.2:c.2388+1G>C single nucleotide variant Orofaciodigital syndrome I [RCV000256368] ChrX:Xp22.2 pathogenic
NM_003611.3(OFD1):c.1130-5_1130-4del deletion not specified [RCV000247532] ChrX:13755142..13755143 [GRCh38]
ChrX:13773261..13773262 [GRCh37]
ChrX:Xp22.2
likely benign
NM_003611.3(OFD1):c.675C>G (p.Thr225=) single nucleotide variant not specified [RCV000242924] ChrX:13746800 [GRCh38]
ChrX:13764919 [GRCh37]
ChrX:Xp22.2
likely benign
NM_003611.3(OFD1):c.2929-18C>T single nucleotide variant not provided [RCV000514293]|not specified [RCV000248221] ChrX:13768700 [GRCh38]
ChrX:13786819 [GRCh37]
ChrX:Xp22.2
benign
NM_003611.3(OFD1):c.2996+25C>G single nucleotide variant not specified [RCV000252990] ChrX:13768810 [GRCh38]
ChrX:13786929 [GRCh37]
ChrX:Xp22.2
likely benign
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2 copy number gain See cases [RCV000240464] ChrX:225816..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3 copy number gain See cases [RCV000240552] ChrX:176426..155236656 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_003611.3(OFD1):c.967del (p.Ser323fs) deletion not provided [RCV000303408] ChrX:13751277 [GRCh38]
ChrX:13769396 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_003611.3(OFD1):c.1412-11dup duplication not provided [RCV000278658] ChrX:13757633..13757634 [GRCh38]
ChrX:13775768 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_003611.3(OFD1):c.2656del (p.Gln886fs) deletion not provided [RCV000319676] ChrX:13767183 [GRCh38]
ChrX:13785302 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_003611.3(OFD1):c.2700C>A (p.Asn900Lys) single nucleotide variant not provided [RCV000391975] ChrX:13767227 [GRCh38]
ChrX:13785346 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_003611.3(OFD1):c.72C>A (p.Tyr24Ter) single nucleotide variant not provided [RCV000262449] ChrX:13735307 [GRCh38]
ChrX:13753426 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_003611.3(OFD1):c.276T>C (p.Ser92=) single nucleotide variant not provided [RCV000334639] ChrX:13736642 [GRCh38]
ChrX:13754761 [GRCh37]
ChrX:Xp22.2
conflicting interpretations of pathogenicity|uncertain significance
NM_003611.3(OFD1):c.1918C>G (p.Gln640Glu) single nucleotide variant not provided [RCV000490236] ChrX:13760378 [GRCh38]
ChrX:13778497 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_003611.3(OFD1):c.829-6A>C single nucleotide variant not provided [RCV000488012] ChrX:13749421 [GRCh38]
ChrX:13767540 [GRCh37]
ChrX:Xp22.2
uncertain significance
GRCh37/hg19 Xp22.2-q25(chrX:11692290-121187337)x2 copy number gain not provided [RCV000488046] ChrX:11692290..121187337 [GRCh37]
ChrX:Xp22.2-q25
uncertain significance
NM_003611.3(OFD1):c.1099C>G (p.Arg367Gly) single nucleotide variant not provided [RCV000591943] ChrX:13753411 [GRCh38]
ChrX:13771530 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_003611.3(OFD1):c.655-8A>G single nucleotide variant not provided [RCV000579345] ChrX:13746772 [GRCh38]
ChrX:13764891 [GRCh37]
ChrX:Xp22.2
likely pathogenic
NM_003611.3(OFD1):c.1840del (p.Ala614fs) deletion not provided [RCV000599558] ChrX:13760300 [GRCh38]
ChrX:13778419 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_003611.3(OFD1):c.748G>T (p.Glu250Ter) single nucleotide variant Joubert syndrome [RCV000638944] ChrX:13746873 [GRCh38]
ChrX:13764992 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_003611.3(OFD1):c.2524G>A (p.Gly842Arg) single nucleotide variant History of neurodevelopmental disorder [RCV000716851]|Joubert syndrome [RCV000638948] ChrX:13763780 [GRCh38]
ChrX:13781899 [GRCh37]
ChrX:Xp22.2
benign|likely benign
NM_003611.3(OFD1):c.1468G>A (p.Glu490Lys) single nucleotide variant Joubert syndrome [RCV000638946] ChrX:13757716 [GRCh38]
ChrX:13775835 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_003611.3(OFD1):c.892G>A (p.Gly298Arg) single nucleotide variant Joubert syndrome [RCV000638947]|Orofaciodigital syndrome I [RCV000766074] ChrX:13749490 [GRCh38]
ChrX:13767609 [GRCh37]
ChrX:Xp22.2
likely benign|uncertain significance
NM_003611.3(OFD1):c.2261-6C>G single nucleotide variant Joubert syndrome [RCV000533164] ChrX:13761079 [GRCh38]
ChrX:13779198 [GRCh37]
ChrX:Xp22.2
likely pathogenic
NM_003611.3(OFD1):c.1594G>A (p.Val532Ile) single nucleotide variant Joubert syndrome [RCV000529119] ChrX:13758388 [GRCh38]
ChrX:13776507 [GRCh37]
ChrX:Xp22.2
benign
NM_003611.3(OFD1):c.1412-322G>A single nucleotide variant Simpson-Golabi-Behmel syndrome, type 2 [RCV001194622] ChrX:13757338 [GRCh38]
ChrX:13775457 [GRCh37]
ChrX:Xp22.2
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:60814-55476165)x1 copy number loss not provided [RCV000753275] ChrX:60814..55476165 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_003611.3(OFD1):c.549dup (p.Ala184fs) duplication not provided [RCV000413868] ChrX:13746347..13746348 [GRCh38]
ChrX:13764466..13764467 [GRCh37]
ChrX:Xp22.2
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain See cases [RCV000449330] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.2(chrX:13762757-13763237)x1 copy number loss See cases [RCV000449441] ChrX:13762757..13763237 [GRCh37]
ChrX:Xp22.2
likely benign
GRCh37/hg19 Xp22.2(chrX:13255617-13915678)x3 copy number gain See cases [RCV000449093] ChrX:13255617..13915678 [GRCh37]
ChrX:Xp22.2
uncertain significance
GRCh37/hg19 Xp22.33-11.3(chrX:168546-43917011)x3 copy number gain See cases [RCV000449393] ChrX:168546..43917011 [GRCh37]
ChrX:Xp22.33-11.3
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792) copy number loss See cases [RCV000449461] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-154930047)x3 copy number gain See cases [RCV000449437] ChrX:168546..154930047 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55529093)x1 copy number loss See cases [RCV000446584] ChrX:168546..55529093 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1 copy number loss See cases [RCV000446712] ChrX:2703632..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56684082)x1 copy number loss See cases [RCV000447092] ChrX:168546..56684082 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1 copy number loss See cases [RCV000446197] ChrX:71267..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1 copy number loss See cases [RCV000446667] ChrX:318707..155224707 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.2(chrX:12993582-13951438)x3 copy number gain See cases [RCV000447468] ChrX:12993582..13951438 [GRCh37]
ChrX:Xp22.2
uncertain significance
GRCh37/hg19 Xp22.33-11.22(chrX:168546-52573789)x1 copy number loss See cases [RCV000447470] ChrX:168546..52573789 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain See cases [RCV000446932] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3 copy number gain See cases [RCV000446310] ChrX:168546..155196888 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3 copy number gain See cases [RCV000447253] ChrX:168546..155081533 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_003611.3(OFD1):c.*3A>G single nucleotide variant not provided [RCV000712458]|not specified [RCV000429236] ChrX:13769111 [GRCh38]
ChrX:13787230 [GRCh37]
ChrX:Xp22.2
benign|likely benign
NM_003611.3(OFD1):c.2060C>T (p.Pro687Leu) single nucleotide variant History of neurodevelopmental disorder [RCV000721041]|Joubert syndrome [RCV000638949]|not provided [RCV000435733] ChrX:13760520 [GRCh38]
ChrX:13778639 [GRCh37]
ChrX:Xp22.2
benign|likely benign|uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss See cases [RCV000448393] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4 copy number gain See cases [RCV000448034] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1 copy number loss See cases [RCV000448652] ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58140271)x1 copy number loss See cases [RCV000447773] ChrX:168546..58140271 [GRCh37]
ChrX:Xp22.33-11.1
pathogenic
GRCh37/hg19 Xp22.2(chrX:13055014-13951438)x2 copy number gain See cases [RCV000448775] ChrX:13055014..13951438 [GRCh37]
ChrX:Xp22.2
uncertain significance
GRCh37/hg19 Xp22.2(chrX:11258243-14177713)x1 copy number loss See cases [RCV000448381] ChrX:11258243..14177713 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_003611.3(OFD1):c.1694T>C (p.Val565Ala) single nucleotide variant History of neurodevelopmental disorder [RCV000719562]|Joubert syndrome [RCV000462916] ChrX:13760154 [GRCh38]
ChrX:13778273 [GRCh37]
ChrX:Xp22.2
benign
NM_003611.3(OFD1):c.89G>A (p.Arg30Gln) single nucleotide variant Joubert syndrome [RCV000462979] ChrX:13735324 [GRCh38]
ChrX:13753443 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_003611.3(OFD1):c.3011C>G (p.Ser1004Cys) single nucleotide variant Joubert syndrome [RCV000475025] ChrX:13769080 [GRCh38]
ChrX:13787199 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_003611.3(OFD1):c.610A>G (p.Lys204Glu) single nucleotide variant Joubert syndrome [RCV000471555] ChrX:13746411 [GRCh38]
ChrX:13764530 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_003611.3(OFD1):c.1930C>T (p.Arg644Cys) single nucleotide variant not provided [RCV000456659]|not specified [RCV000603157] ChrX:13760390 [GRCh38]
ChrX:13778509 [GRCh37]
ChrX:Xp22.2
benign|likely benign
NM_003611.3(OFD1):c.195A>C (p.Glu65Asp) single nucleotide variant Joubert syndrome [RCV000456688] ChrX:13736561 [GRCh38]
ChrX:13754680 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_003611.3(OFD1):c.1730A>G (p.Asn577Ser) single nucleotide variant not provided [RCV000838629] ChrX:13760190 [GRCh38]
ChrX:13778309 [GRCh37]
ChrX:Xp22.2
benign|likely benign
NM_003611.3(OFD1):c.313-3A>G single nucleotide variant not provided [RCV000482191] ChrX:13738843 [GRCh38]
ChrX:13756962 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_003611.3(OFD1):c.2030A>T (p.Glu677Val) single nucleotide variant Joubert syndrome [RCV000461906] ChrX:13760490 [GRCh38]
ChrX:13778609 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_003611.3(OFD1):c.2725C>T (p.Arg909Ter) single nucleotide variant Joubert syndrome [RCV000465580] ChrX:13767252 [GRCh38]
ChrX:13785371 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_003611.3(OFD1):c.2319A>G (p.Pro773=) single nucleotide variant not provided [RCV000462015] ChrX:13761143 [GRCh38]
ChrX:13779262 [GRCh37]
ChrX:Xp22.2
likely benign
NM_003611.3(OFD1):c.282C>T (p.Phe94=) single nucleotide variant not provided [RCV000469454] ChrX:13736648 [GRCh38]
ChrX:13754767 [GRCh37]
ChrX:Xp22.2
likely benign
NM_003611.3(OFD1):c.69A>G (p.Leu23=) single nucleotide variant not provided [RCV000466169] ChrX:13735304 [GRCh38]
ChrX:13753423 [GRCh37]
ChrX:Xp22.2
likely benign
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55240087)x1 copy number loss See cases [RCV000512136] ChrX:168546..55240087 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-21.1(chrX:168546-37515849)x1 copy number loss See cases [RCV000510590] ChrX:168546..37515849 [GRCh37]
ChrX:Xp22.33-21.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1 copy number loss See cases [RCV000510382] ChrX:168547..151304063 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_003611.3(OFD1):c.198G>A (p.Gly66=) single nucleotide variant not provided [RCV000922094]|not specified [RCV000504074] ChrX:13736564 [GRCh38]
ChrX:13754683 [GRCh37]
ChrX:Xp22.2
likely benign
NM_003611.3(OFD1):c.1654+5G>C single nucleotide variant not specified [RCV000504107] ChrX:13758453 [GRCh38]
ChrX:13776572 [GRCh37]
ChrX:Xp22.2
uncertain significance
GRCh37/hg19 Xp22.33-21.1(chrX:168546-35841052)x1 copy number loss See cases [RCV000510308] ChrX:168546..35841052 [GRCh37]
ChrX:Xp22.33-21.1
pathogenic
GRCh37/hg19 Xp22.33-q23(chrX:168547-112474026)x1 copy number loss See cases [RCV000510419] ChrX:168547..112474026 [GRCh37]
ChrX:Xp22.33-q23
pathogenic
NM_003611.3(OFD1):c.1102C>G (p.Leu368Val) single nucleotide variant not provided [RCV000870142]|not specified [RCV000500732] ChrX:13753414 [GRCh38]
ChrX:13771533 [GRCh37]
ChrX:Xp22.2
benign|uncertain significance
NM_003611.3(OFD1):c.2758-4A>G single nucleotide variant not specified [RCV000502971] ChrX:13768050 [GRCh38]
ChrX:13786169 [GRCh37]
ChrX:Xp22.2
uncertain significance
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58527164)x1 copy number loss See cases [RCV000510437] ChrX:168546..58527164 [GRCh37]
ChrX:Xp22.33-11.1
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57504183)x1 copy number loss See cases [RCV000511615] ChrX:168546..57504183 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_003611.3(OFD1):c.538_540GAT[1] (p.Asp181del) microsatellite not provided [RCV000493480] ChrX:13746338..13746340 [GRCh38]
ChrX:13764457..13764459 [GRCh37]
ChrX:Xp22.2
likely pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57683964)x1 copy number loss See cases [RCV000512022] ChrX:168546..57683964 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_003611.3(OFD1):c.2260+2dup duplication not specified [RCV000493852] ChrX:13760721..13760722 [GRCh38]
ChrX:13778840..13778841 [GRCh37]
ChrX:Xp22.2
uncertain significance
GRCh37/hg19 Xp22.33-21.2(chrX:168546-31085327)x1 copy number loss See cases [RCV000511350] ChrX:168546..31085327 [GRCh37]
ChrX:Xp22.33-21.2
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731) copy number gain See cases [RCV000512020] ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_003611.3(OFD1):c.991C>T (p.Gln331Ter) single nucleotide variant not provided [RCV000579002] ChrX:13751304 [GRCh38]
ChrX:13769423 [GRCh37]
ChrX:Xp22.2
likely pathogenic
NM_003611.3(OFD1):c.1221+1_1221+2del deletion not provided [RCV000492845] ChrX:13755243..13755244 [GRCh38]
ChrX:13773362..13773363 [GRCh37]
ChrX:Xp22.2
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-54996659)x1 copy number loss See cases [RCV000510822] ChrX:168546..54996659 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_003611.3(OFD1):c.26C>T (p.Thr9Ile) single nucleotide variant Joubert syndrome [RCV000543354] ChrX:13735261 [GRCh38]
ChrX:13753380 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_003611.3(OFD1):c.2600-5A>G single nucleotide variant not specified [RCV000602760] ChrX:13767122 [GRCh38]
ChrX:13785241 [GRCh37]
ChrX:Xp22.2
likely benign
NM_003611.3(OFD1):c.363del (p.Ser122fs) deletion Orofaciodigital syndrome I [RCV000623454] ChrX:13738895 [GRCh38]
ChrX:13757014 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_003611.3(OFD1):c.2996+10T>C single nucleotide variant not provided [RCV000596920] ChrX:13768795 [GRCh38]
ChrX:13786914 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_003611.3(OFD1):c.560dup (p.Tyr187Ter) duplication Joubert syndrome [RCV000536651] ChrX:13746360..13746361 [GRCh38]
ChrX:13764479..13764480 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_003611.3(OFD1):c.2076del (p.Phe692fs) deletion Inborn genetic diseases [RCV000624018] ChrX:13760532 [GRCh38]
ChrX:13778651 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_003611.3(OFD1):c.1654+9C>T single nucleotide variant Joubert syndrome [RCV000539558] ChrX:13758457 [GRCh38]
ChrX:13776576 [GRCh37]
ChrX:Xp22.2
benign
NC_000023.11:g.(?_13735052)_(13769128_?)del deletion Joubert syndrome [RCV000540926] ChrX:13735052..13769128 [GRCh38]
ChrX:Xp22.2
pathogenic
NM_003611.3(OFD1):c.2398A>G (p.Arg800Gly) single nucleotide variant Joubert syndrome [RCV000863291]|not specified [RCV000616124] ChrX:13762354 [GRCh38]
ChrX:13780473 [GRCh37]
ChrX:Xp22.2
benign|likely benign
NM_003611.3(OFD1):c.2488+13A>G single nucleotide variant not specified [RCV000613504] ChrX:13762457 [GRCh38]
ChrX:13780576 [GRCh37]
ChrX:Xp22.2
likely benign
NM_003611.3(OFD1):c.1876G>C (p.Glu626Gln) single nucleotide variant Joubert syndrome [RCV000530056] ChrX:13760336 [GRCh38]
ChrX:13778455 [GRCh37]
ChrX:Xp22.2
benign
GRCh37/hg19 Xp22.33-22.11(chrX:168546-24780527)x3 copy number gain See cases [RCV000512204] ChrX:168546..24780527 [GRCh37]
ChrX:Xp22.33-22.11
pathogenic
NM_003611.3(OFD1):c.1536A>G (p.Gln512=) single nucleotide variant Joubert syndrome [RCV000863501]|not specified [RCV000604500] ChrX:13757784 [GRCh38]
ChrX:13775903 [GRCh37]
ChrX:Xp22.2
benign|likely benign
GRCh37/hg19 Xp22.33-q13.3(chrX:168546-74549686) copy number loss See cases [RCV000512142] ChrX:168546..74549686 [GRCh37]
ChrX:Xp22.33-q13.3
pathogenic
NM_003611.3(OFD1):c.2126_2129del (p.Glu709fs) deletion Joubert syndrome [RCV000638945] ChrX:13760583..13760586 [GRCh38]
ChrX:13778702..13778705 [GRCh37]
ChrX:Xp22.2
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168564-57413442)x1 copy number loss See cases [RCV000512339] ChrX:168564..57413442 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_003611.3(OFD1):c.1999G>A (p.Ala667Thr) single nucleotide variant Postaxial polydactyly type A1 [RCV000626849]|Retinitis pigmentosa 23 [RCV001199215] ChrX:13760459 [GRCh38]
ChrX:13778578 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_003611.3(OFD1):c.230T>C (p.Leu77Ser) single nucleotide variant not provided [RCV000659143] ChrX:13736596 [GRCh38]
ChrX:13754715 [GRCh37]
ChrX:Xp22.2
pathogenic|uncertain significance
NM_003611.3(OFD1):c.1861C>T (p.Pro621Ser) single nucleotide variant not provided [RCV000658148] ChrX:13760321 [GRCh38]
ChrX:13778440 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_003611.3(OFD1):c.2981G>A (p.Ser994Asn) single nucleotide variant not provided [RCV000658336] ChrX:13768770 [GRCh38]
ChrX:13786889 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_003611.3(OFD1):c.1061_1065del (p.Gln354fs) deletion Orofaciodigital syndrome I [RCV000677729] ChrX:13753373..13753377 [GRCh38]
ChrX:13771492..13771496 [GRCh37]
ChrX:Xp22.2
likely pathogenic
NM_003611.3(OFD1):c.220_221insTAAAAGAGCTGC (p.Ser74delinsLeuLysGluLeuPro) insertion Orofaciodigital syndrome I [RCV000677725] ChrX:13736586..13736587 [GRCh38]
ChrX:13754705..13754706 [GRCh37]
ChrX:Xp22.2
likely pathogenic
NM_003611.3(OFD1):c.344T>A (p.Ile115Asn) single nucleotide variant Orofaciodigital syndrome I [RCV000677727] ChrX:13738877 [GRCh38]
ChrX:13756996 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_003611.3(OFD1):c.112-2del deletion Orofaciodigital syndrome I [RCV000677724] ChrX:13736476 [GRCh38]
ChrX:13754595 [GRCh37]
ChrX:Xp22.2
likely pathogenic
NM_003611.3(OFD1):c.1365A>G (p.Lys455=) single nucleotide variant History of neurodevelopmental disorder [RCV000719743] ChrX:13756721 [GRCh38]
ChrX:13774840 [GRCh37]
ChrX:Xp22.2
likely benign
GRCh37/hg19 Xp22.33-22.2(chrX:168546-16404364)x1 copy number loss not provided [RCV000684181] ChrX:168546..16404364 [GRCh37]
ChrX:Xp22.33-22.2
pathogenic
GRCh37/hg19 Xp22.33-22.12(chrX:201704-20682168)x3 copy number gain not provided [RCV000684187] ChrX:201704..20682168 [GRCh37]
ChrX:Xp22.33-22.12
pathogenic
GRCh37/hg19 Xp22.33-22.13(chrX:168546-18601364)x1 copy number loss not provided [RCV000684182] ChrX:168546..18601364 [GRCh37]
ChrX:Xp22.33-22.13
pathogenic
GRCh37/hg19 Xp22.33-22.11(chrX:168546-23785738)x1 copy number loss not provided [RCV000684183] ChrX:168546..23785738 [GRCh37]
ChrX:Xp22.33-22.11
pathogenic
GRCh37/hg19 Xp22.31-q21.31(chrX:7841947-90815333)x1,2 copy number gain not provided [RCV000684261] ChrX:7841947..90815333 [GRCh37]
ChrX:Xp22.31-q21.31
pathogenic
GRCh37/hg19 Xp22.33-11.23(chrX:168546-46908284)x1 copy number loss not provided [RCV000684185] ChrX:168546..46908284 [GRCh37]
ChrX:Xp22.33-11.23
pathogenic
GRCh37/hg19 Xp22.33-11.3(chrX:168546-43248706)x1 copy number loss not provided [RCV000684184] ChrX:168546..43248706 [GRCh37]
ChrX:Xp22.33-11.3
pathogenic
NM_003611.3(OFD1):c.1603_1604del (p.Leu535fs) deletion Orofaciodigital syndrome I [RCV000680173] ChrX:13758396..13758397 [GRCh38]
ChrX:13776515..13776516 [GRCh37]
ChrX:Xp22.2
likely pathogenic
NM_003611.3(OFD1):c.919G>A (p.Val307Ile) single nucleotide variant not provided [RCV000712459] ChrX:13749517 [GRCh38]
ChrX:13767636 [GRCh37]
ChrX:Xp22.2
conflicting interpretations of pathogenicity|uncertain significance
NM_003611.3(OFD1):c.2719A>G (p.Arg907Gly) single nucleotide variant Joubert syndrome [RCV000701171] ChrX:13767246 [GRCh38]
ChrX:13785365 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_003611.3(OFD1):c.2061G>A (p.Pro687=) single nucleotide variant History of neurodevelopmental disorder [RCV000717478] ChrX:13760521 [GRCh38]
ChrX:13778640 [GRCh37]
ChrX:Xp22.2
likely benign
NM_003611.3(OFD1):c.1662G>A (p.Glu554=) single nucleotide variant History of neurodevelopmental disorder [RCV000716949] ChrX:13760122 [GRCh38]
ChrX:13778241 [GRCh37]
ChrX:Xp22.2
likely benign
NM_003611.3(OFD1):c.324G>A (p.Met108Ile) single nucleotide variant Joubert syndrome [RCV000692393]|Orofaciodigital syndrome I [RCV000766073] ChrX:13738857 [GRCh38]
ChrX:13756976 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_003611.3(OFD1):c.915_916del (p.Arg306fs) deletion Joubert syndrome [RCV000697557] ChrX:13749512..13749513 [GRCh38]
ChrX:13767631..13767632 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_003611.3(OFD1):c.2482T>G (p.Phe828Val) single nucleotide variant Joubert syndrome [RCV000688372] ChrX:13762438 [GRCh38]
ChrX:13780557 [GRCh37]
ChrX:Xp22.2
benign|uncertain significance
NM_003611.3(OFD1):c.2177G>A (p.Arg726His) single nucleotide variant Joubert syndrome [RCV000692033] ChrX:13760637 [GRCh38]
ChrX:13778756 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_003611.3(OFD1):c.312+1G>T single nucleotide variant Joubert syndrome [RCV000706155] ChrX:13736679 [GRCh38]
ChrX:13754798 [GRCh37]
ChrX:Xp22.2
likely pathogenic
NM_003611.3(OFD1):c.1313C>G (p.Ser438Ter) single nucleotide variant Joubert syndrome [RCV000706240] ChrX:13756669 [GRCh38]
ChrX:13774788 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_003611.3(OFD1):c.2297G>T (p.Cys766Phe) single nucleotide variant History of neurodevelopmental disorder [RCV000716779] ChrX:13761121 [GRCh38]
ChrX:13779240 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_003611.3(OFD1):c.2074T>A (p.Phe692Ile) single nucleotide variant History of neurodevelopmental disorder [RCV000717620] ChrX:13760534 [GRCh38]
ChrX:13778653 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_003611.3(OFD1):c.2192C>T (p.Ser731Phe) single nucleotide variant History of neurodevelopmental disorder [RCV000717048]|not provided [RCV000867275] ChrX:13760652 [GRCh38]
ChrX:13778771 [GRCh37]
ChrX:Xp22.2
likely benign|uncertain significance
NM_003611.3(OFD1):c.858G>A (p.Arg286=) single nucleotide variant History of neurodevelopmental disorder [RCV000718153] ChrX:13749456 [GRCh38]
ChrX:13767575 [GRCh37]
ChrX:Xp22.2
likely benign
NM_003611.3(OFD1):c.655-2A>G single nucleotide variant History of neurodevelopmental disorder [RCV000718565] ChrX:13746778 [GRCh38]
ChrX:13764897 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_003611.3(OFD1):c.450_452TCA[1] (p.His151del) microsatellite History of neurodevelopmental disorder [RCV000719365] ChrX:13744451..13744453 [GRCh38]
ChrX:13762570..13762572 [GRCh37]
ChrX:Xp22.2
uncertain significance
GRCh37/hg19 Xp22.33-11.22(chrX:60814-51821765)x1 copy number loss not provided [RCV000753274] ChrX:60814..51821765 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
NM_003611.3(OFD1):c.2408A>G (p.Glu803Gly) single nucleotide variant History of neurodevelopmental disorder [RCV000719598] ChrX:13762364 [GRCh38]
ChrX:13780483 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_003611.3(OFD1):c.2373G>T (p.Pro791=) single nucleotide variant History of neurodevelopmental disorder [RCV000719194] ChrX:13761197 [GRCh38]
ChrX:13779316 [GRCh37]
ChrX:Xp22.2
likely benign
GRCh37/hg19 Xp22.33-11.23(chrX:60814-48317386)x1 copy number loss not provided [RCV000753273] ChrX:60814..48317386 [GRCh37]
ChrX:Xp22.33-11.23
pathogenic
NM_003611.3(OFD1):c.634C>T (p.Arg212Trp) single nucleotide variant History of neurodevelopmental disorder [RCV000721039] ChrX:13746435 [GRCh38]
ChrX:13764554 [GRCh37]
ChrX:Xp22.2
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV000848828] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_003611.3(OFD1):c.2746dup (p.Tyr916fs) duplication Joubert syndrome [RCV000758014] ChrX:13767272..13767273 [GRCh38]
ChrX:13785391..13785392 [GRCh37]
ChrX:Xp22.2
pathogenic
GRCh37/hg19 Xp22.2(chrX:13446345-13876661)x2 copy number gain not provided [RCV000753388] ChrX:13446345..13876661 [GRCh37]
ChrX:Xp22.2
likely benign
NM_003611.3(OFD1):c.2815G>T (p.Glu939Ter) single nucleotide variant Joubert syndrome [RCV000758012] ChrX:13768111 [GRCh38]
ChrX:13786230 [GRCh37]
ChrX:Xp22.2
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2 copy number gain not provided [RCV000753277] ChrX:60814..155254881 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1 copy number loss not provided [RCV000753278] ChrX:181779..155171702 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x1 copy number loss not provided [RCV000753271] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
Single allele duplication Autistic disorder of childhood onset [RCV000754365] ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28
pathogenic
Single allele duplication Autistic disorder of childhood onset [RCV000754363] ChrX:10000..22474705 [GRCh38]
ChrX:Xp22.33-22.11
likely pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x3 copy number gain not provided [RCV000753272] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2 copy number gain not provided [RCV000753276] ChrX:60814..155236712 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_003611.3(OFD1):c.2970G>A (p.Thr990=) single nucleotide variant not provided [RCV000918808] ChrX:13768759 [GRCh38]
ChrX:13786878 [GRCh37]
ChrX:Xp22.2
likely benign
NM_003611.3(OFD1):c.569G>A (p.Arg190His) single nucleotide variant not provided [RCV000874448] ChrX:13746370 [GRCh38]
ChrX:13764489 [GRCh37]
ChrX:Xp22.2
benign
NM_003611.3(OFD1):c.1130-4dup duplication not provided [RCV000861343] ChrX:13755141..13755142 [GRCh38]
ChrX:13773260..13773261 [GRCh37]
ChrX:Xp22.2
likely benign
GRCh37/hg19 Xp22.2(chrX:13551079-13935688)x3 copy number gain not provided [RCV000762705] ChrX:13551079..13935688 [GRCh37]
ChrX:Xp22.2
likely benign
NM_003611.3(OFD1):c.2797G>T (p.Glu933Ter) single nucleotide variant Joubert syndrome [RCV000758013] ChrX:13768093 [GRCh38]
ChrX:13786212 [GRCh37]
ChrX:Xp22.2
pathogenic
GRCh37/hg19 Xp22.33-22.12(chrX:1240318-20986848)x2 copy number gain not provided [RCV001007235] ChrX:1240318..20986848 [GRCh37]
ChrX:Xp22.33-22.12
pathogenic
Single allele deletion Neurodevelopmental disorder [RCV000787440] ChrX:1..47140860 [GRCh37]
ChrX:Xp22.33-11.23
pathogenic
NM_003611.3(OFD1):c.1617T>G (p.Val539=) single nucleotide variant not provided [RCV000926611] ChrX:13758411 [GRCh38]
ChrX:13776530 [GRCh37]
ChrX:Xp22.2
likely benign
NM_003611.3(OFD1):c.2600-4T>G single nucleotide variant not provided [RCV000866297] ChrX:13767123 [GRCh38]
ChrX:13785242 [GRCh37]
ChrX:Xp22.2
benign
NM_003611.3(OFD1):c.2235C>T (p.Ser745=) single nucleotide variant not provided [RCV000863426] ChrX:13760695 [GRCh38]
ChrX:13778814 [GRCh37]
ChrX:Xp22.2
benign
NM_003611.3(OFD1):c.2327C>G (p.Thr776Ser) single nucleotide variant not provided [RCV000879204] ChrX:13761151 [GRCh38]
ChrX:13779270 [GRCh37]
ChrX:Xp22.2
benign
NM_003611.3(OFD1):c.688A>G (p.Ile230Val) single nucleotide variant not provided [RCV000867017] ChrX:13746813 [GRCh38]
ChrX:13764932 [GRCh37]
ChrX:Xp22.2
benign
GRCh37/hg19 Xp22.33-22.11(chrX:537158-22883547)x1 copy number loss not provided [RCV001007223] ChrX:537158..22883547 [GRCh37]
ChrX:Xp22.33-22.11
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:539722-55509385)x1 copy number loss not provided [RCV001007224] ChrX:539722..55509385 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-22.13(chrX:168546-17502124)x1 copy number loss not provided [RCV001007200] ChrX:168546..17502124 [GRCh37]
ChrX:Xp22.33-22.13
pathogenic
NM_003611.3(OFD1):c.1654+5_1654+15del deletion Retinal dystrophy [RCV001074164] ChrX:13758450..13758460 [GRCh38]
ChrX:13776569..13776579 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_003611.3(OFD1):c.797G>C (p.Ser266Thr) single nucleotide variant Joubert syndrome [RCV001051881] ChrX:13746922 [GRCh38]
ChrX:13765041 [GRCh37]
ChrX:Xp22.2
uncertain significance
GRCh37/hg19 Xp22.33-22.11(chrX:801301-23768392) copy number gain not provided [RCV000767802] ChrX:801301..23768392 [GRCh37]
ChrX:Xp22.33-22.11
pathogenic
NM_003611.3(OFD1):c.476T>C (p.Met159Thr) single nucleotide variant Joubert syndrome [RCV000871591] ChrX:13744478 [GRCh38]
ChrX:13762597 [GRCh37]
ChrX:Xp22.2
benign
NM_003611.3(OFD1):c.2959C>A (p.Leu987Ile) single nucleotide variant not provided [RCV000865255] ChrX:13768748 [GRCh38]
ChrX:13786867 [GRCh37]
ChrX:Xp22.2
benign
NM_003611.3(OFD1):c.567G>A (p.Gln189=) single nucleotide variant Joubert syndrome [RCV000873221] ChrX:13746368 [GRCh38]
ChrX:13764487 [GRCh37]
ChrX:Xp22.2
benign
NM_003611.3(OFD1):c.2289C>A (p.Pro763=) single nucleotide variant not provided [RCV000887777] ChrX:13761113 [GRCh38]
ChrX:13779232 [GRCh37]
ChrX:Xp22.2
likely benign
NM_003611.3(OFD1):c.412+10G>A single nucleotide variant not provided [RCV000872476] ChrX:13739042 [GRCh38]
ChrX:13757161 [GRCh37]
ChrX:Xp22.2
likely benign
NM_003611.3(OFD1):c.1961G>A (p.Arg654Gln) single nucleotide variant not provided [RCV000899438] ChrX:13760421 [GRCh38]
ChrX:13778540 [GRCh37]
ChrX:Xp22.2
benign|conflicting interpretations of pathogenicity
NM_003611.3(OFD1):c.359C>T (p.Thr120Ile) single nucleotide variant not provided [RCV000860711] ChrX:13738892 [GRCh38]
ChrX:13757011 [GRCh37]
ChrX:Xp22.2
benign
NM_003611.3(OFD1):c.1785A>G (p.Lys595=) single nucleotide variant Joubert syndrome [RCV000819087] ChrX:13760245 [GRCh38]
ChrX:13778364 [GRCh37]
ChrX:Xp22.2
uncertain significance
GRCh37/hg19 Xp22.33-q11.1(chrX:168546-61877279)x1 copy number loss not provided [RCV000846273] ChrX:168546..61877279 [GRCh37]
ChrX:Xp22.33-q11.1
pathogenic
NM_003611.3(OFD1):c.1277T>C (p.Met426Thr) single nucleotide variant Joubert syndrome [RCV000803063] ChrX:13756633 [GRCh38]
ChrX:13774752 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_003611.3(OFD1):c.2188T>A (p.Ser730Thr) single nucleotide variant Joubert syndrome [RCV000791602] ChrX:13760648 [GRCh38]
ChrX:13778767 [GRCh37]
ChrX:Xp22.2
uncertain significance
Single allele insertion not provided [RCV000985237] ChrX:Xp22.2 pathogenic
NM_003611.3(OFD1):c.829-280del deletion not provided [RCV000840836] ChrX:13749141 [GRCh38]
ChrX:13767260 [GRCh37]
ChrX:Xp22.2
benign
NM_003611.3(OFD1):c.216C>A (p.Gly72=) single nucleotide variant not provided [RCV000976964] ChrX:13736582 [GRCh38]
ChrX:13754701 [GRCh37]
ChrX:Xp22.2
likely benign
GRCh37/hg19 Xp22.33-11.4(chrX:168546-38054739)x1 copy number loss not provided [RCV000845671] ChrX:168546..38054739 [GRCh37]
ChrX:Xp22.33-11.4
pathogenic
GRCh37/hg19 Xp22.33-22.11(chrX:2190434-23795839)x3 copy number gain not provided [RCV000849574] ChrX:2190434..23795839 [GRCh37]
ChrX:Xp22.33-22.11
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_003611.3(OFD1):c.-19C>G single nucleotide variant not provided [RCV000840238] ChrX:13735053 [GRCh38]
ChrX:13753172 [GRCh37]
ChrX:Xp22.2
likely benign
NC_000023.10:g.(?_13753080)_(13754816_?)dup duplication Joubert syndrome [RCV000792795] ChrX:13734961..13736697 [GRCh38]
ChrX:13753080..13754816 [GRCh37]
ChrX:Xp22.2
uncertain significance
GRCh37/hg19 Xp22.33-11.22(chrX:60814-50519984)x1 copy number loss See cases [RCV000790583] ChrX:60814..50519984 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
NM_003611.3(OFD1):c.935+12A>G single nucleotide variant not provided [RCV000842216] ChrX:13749545 [GRCh38]
ChrX:13767664 [GRCh37]
ChrX:Xp22.2
likely benign
NM_003611.3(OFD1):c.1129+8T>A single nucleotide variant Joubert syndrome [RCV001087426]|not provided [RCV000842217] ChrX:13753449 [GRCh38]
ChrX:13771568 [GRCh37]
ChrX:Xp22.2
benign|likely benign
NM_003611.3(OFD1):c.2757+52C>T single nucleotide variant not provided [RCV000839305] ChrX:13767336 [GRCh38]
ChrX:13785455 [GRCh37]
ChrX:Xp22.2
likely benign
NM_003611.3(OFD1):c.815A>G (p.His272Arg) single nucleotide variant not provided [RCV000999323] ChrX:13746940 [GRCh38]
ChrX:13765059 [GRCh37]
ChrX:Xp22.2
uncertain significance
GRCh37/hg19 Xp22.33-21.1(chrX:168546-34753512)x1 copy number loss not provided [RCV001007559] ChrX:168546..34753512 [GRCh37]
ChrX:Xp22.33-21.1
pathogenic
NM_003611.3(OFD1):c.604_609del (p.Glu202_Tyr203del) deletion Orofaciodigital syndrome I [RCV000850575] ChrX:13746403..13746408 [GRCh38]
ChrX:13764522..13764527 [GRCh37]
ChrX:Xp22.2
uncertain significance
GRCh37/hg19 Xp22.33-22.2(chrX:2703632-14129100)x2 copy number gain not provided [RCV000847649] ChrX:2703632..14129100 [GRCh37]
ChrX:Xp22.33-22.2
pathogenic
NM_003611.3(OFD1):c.2841A>G (p.Ile947Met) single nucleotide variant Joubert syndrome [RCV001209360] ChrX:13768137 [GRCh38]
ChrX:13786256 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_003611.3(OFD1):c.679A>G (p.Ile227Val) single nucleotide variant Joubert syndrome [RCV001213307] ChrX:13746804 [GRCh38]
ChrX:13764923 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_003611.3(OFD1):c.2193del (p.Arg732fs) deletion Orofaciodigital syndrome I [RCV000985086] ChrX:13760652 [GRCh38]
ChrX:13778771 [GRCh37]
ChrX:Xp22.2
likely pathogenic
NM_003611.3(OFD1):c.1980dup (p.Ala661fs) duplication Joubert syndrome [RCV001234156] ChrX:13760439..13760440 [GRCh38]
ChrX:13778558..13778559 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_003611.3(OFD1):c.2028G>A (p.Leu676=) single nucleotide variant Joubert syndrome [RCV001243555] ChrX:13760488 [GRCh38]
ChrX:13778607 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_003611.3(OFD1):c.2927A>C (p.Lys976Thr) single nucleotide variant not provided [RCV000999324] ChrX:13768223 [GRCh38]
ChrX:13786342 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_003611.3(OFD1):c.794dup (p.Ser266fs) duplication Joubert syndrome [RCV001239727] ChrX:13746915..13746916 [GRCh38]
ChrX:13765034..13765035 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_003611.3(OFD1):c.1737G>A (p.Val579=) single nucleotide variant not provided [RCV000862786] ChrX:13760197 [GRCh38]
ChrX:13778316 [GRCh37]
ChrX:Xp22.2
likely benign
NM_003611.3(OFD1):c.1926C>T (p.Ala642=) single nucleotide variant not provided [RCV000930024] ChrX:13760386 [GRCh38]
ChrX:13778505 [GRCh37]
ChrX:Xp22.2
likely benign
NM_003611.3(OFD1):c.1719A>G (p.Leu573=) single nucleotide variant not provided [RCV000876497] ChrX:13760179 [GRCh38]
ChrX:13778298 [GRCh37]
ChrX:Xp22.2
likely benign
NM_003611.3(OFD1):c.565C>T (p.Gln189Ter) single nucleotide variant Joubert syndrome [RCV001054764] ChrX:13746366 [GRCh38]
ChrX:13764485 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_003611.3(OFD1):c.257G>A (p.Gly86Asp) single nucleotide variant Joubert syndrome [RCV001063711] ChrX:13736623 [GRCh38]
ChrX:13754742 [GRCh37]
ChrX:Xp22.2
uncertain significance
NC_000023.11:g.(?_13735066)_(13769113_?)del deletion Joubert syndrome [RCV001031300] ChrX:13753185..13787232 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_003611.3(OFD1):c.2791_2795del (p.Lys931fs) deletion Orofaciodigital syndrome I [RCV001029766] ChrX:13768086..13768090 [GRCh38]
ChrX:13786205..13786209 [GRCh37]
ChrX:Xp22.2
likely pathogenic
NM_003611.3(OFD1):c.1358_1362del (p.Lys452_Leu453insTer) deletion Orofaciodigital syndrome I [RCV001171313] ChrX:13756713..13756717 [GRCh38]
ChrX:13774832..13774836 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_003611.3(OFD1):c.1751A>G (p.Glu584Gly) single nucleotide variant not provided [RCV001093295] ChrX:13760211 [GRCh38]
ChrX:13778330 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_003611.3(OFD1):c.2239G>A (p.Glu747Lys) single nucleotide variant Joubert syndrome [RCV001218493] ChrX:13760699 [GRCh38]
ChrX:13778818 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_003611.3(OFD1):c.613_614delinsTATA (p.Arg205fs) indel Orofaciodigital syndrome I [RCV001027698] ChrX:13746414..13746415 [GRCh38]
ChrX:13764533..13764534 [GRCh37]
ChrX:Xp22.2
likely pathogenic
NM_003611.3(OFD1):c.29T>C (p.Val10Ala) single nucleotide variant Joubert syndrome [RCV001049425] ChrX:13735264 [GRCh38]
ChrX:13753383 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_003611.3(OFD1):c.1684A>C (p.Lys562Gln) single nucleotide variant Retinal dystrophy [RCV001073377] ChrX:13760144 [GRCh38]
ChrX:13778263 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_003611.3(OFD1):c.916A>G (p.Arg306Gly) single nucleotide variant Joubert syndrome [RCV001069407] ChrX:13749514 [GRCh38]
ChrX:13767633 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_003611.3(OFD1):c.276T>A (p.Ser92=) single nucleotide variant Joubert syndrome [RCV001070838] ChrX:13736642 [GRCh38]
ChrX:13754761 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_003611.3(OFD1):c.382G>A (p.Val128Ile) single nucleotide variant Intellectual disability [RCV001252089] ChrX:13739002 [GRCh38]
ChrX:13757121 [GRCh37]
ChrX:Xp22.2
likely benign
NM_003611.3(OFD1):c.172C>G (p.Gln58Glu) single nucleotide variant Intellectual disability [RCV001252088] ChrX:13736538 [GRCh38]
ChrX:13754657 [GRCh37]
ChrX:Xp22.2
likely benign
NM_003611.3(OFD1):c.2954G>A (p.Gly985Asp) single nucleotide variant Intellectual disability [RCV001252087] ChrX:13768743 [GRCh38]
ChrX:13786862 [GRCh37]
ChrX:Xp22.2
likely benign
NM_003611.3(OFD1):c.2387+1G>A single nucleotide variant Joubert syndrome 10 [RCV001253756] ChrX:13761212 [GRCh38]
ChrX:13779331 [GRCh37]
ChrX:Xp22.2
likely pathogenic
NM_003611.3(OFD1):c.2669G>A (p.Arg890Gln) single nucleotide variant Rare genetic intellectual disability [RCV001257024] ChrX:13767196 [GRCh38]
ChrX:13785315 [GRCh37]
ChrX:Xp22.2
uncertain significance
GRCh37/hg19 Xp22.2(chrX:10478359-15357092)x3 copy number gain not provided [RCV001259461] ChrX:10478359..15357092 [GRCh37]
ChrX:Xp22.2
likely pathogenic
NM_003611.3(OFD1):c.1111G>A (p.Asp371Asn) single nucleotide variant Primary ciliary dyskinesia [RCV001255313] ChrX:13753423 [GRCh38]
ChrX:13771542 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_003611.3(OFD1):c.599T>C (p.Leu200Pro) single nucleotide variant Joubert syndrome 10 [RCV001255998] ChrX:13746400 [GRCh38]
ChrX:13764519 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_003611.3(OFD1):c.2273C>G (p.Ser758Ter) single nucleotide variant Primary ciliary dyskinesia [RCV001255273] ChrX:13761097 [GRCh38]
ChrX:13779216 [GRCh37]
ChrX:Xp22.2
likely pathogenic
NM_003611.3(OFD1):c.2236C>G (p.Leu746Val) single nucleotide variant Primary ciliary dyskinesia [RCV001255312] ChrX:13760696 [GRCh38]
ChrX:13778815 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_003611.3(OFD1):c.2757G>A (p.Arg919=) single nucleotide variant Joubert syndrome [RCV001312316] ChrX:13767284 [GRCh38]
ChrX:13785403 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_003611.3(OFD1):c.2289dup (p.Ser764fs) duplication Orofaciodigital syndrome I [RCV001293678] ChrX:13761108..13761109 [GRCh38]
ChrX:13779227..13779228 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_003611.3(OFD1):c.2176C>T (p.Arg726Cys) single nucleotide variant Joubert syndrome 10 [RCV001262142] ChrX:13760636 [GRCh38]
ChrX:13778755 [GRCh37]
ChrX:Xp22.2
likely benign
GRCh37/hg19 Xp22.33-11.21(chrX:219609-55466476)x1 copy number loss See cases [RCV001263061] ChrX:219609..55466476 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_003611.3(OFD1):c.56T>C (p.Leu19Pro) single nucleotide variant Inborn genetic diseases [RCV001266350] ChrX:13735291 [GRCh38]
ChrX:13753410 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_003611.3(OFD1):c.1485del (p.Glu496fs) deletion not provided [RCV001280775] ChrX:13757732 [GRCh38]
ChrX:13775851 [GRCh37]
ChrX:Xp22.2
likely pathogenic
NM_003611.3(OFD1):c.2464GAG[1] (p.Glu823del) microsatellite Simpson-Golabi-Behmel syndrome, type 2 [RCV001281673] ChrX:13762420..13762422 [GRCh38]
ChrX:13780539..13780541 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_003611.3(OFD1):c.1589C>G (p.Ala530Gly) single nucleotide variant Joubert syndrome [RCV001341783] ChrX:13758383 [GRCh38]
ChrX:13776502 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_003611.3(OFD1):c.2997-6A>G single nucleotide variant Joubert syndrome [RCV001296175] ChrX:13769060 [GRCh38]
ChrX:13787179 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_003611.3(OFD1):c.3G>A (p.Met1Ile) single nucleotide variant Joubert syndrome 10 [RCV001333140] ChrX:13735074 [GRCh38]
ChrX:13753193 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_003611.3(OFD1):c.829-16A>G single nucleotide variant Joubert syndrome [RCV001318606] ChrX:13749411 [GRCh38]
ChrX:13767530 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_003611.3(OFD1):c.2735dup (p.Glu913fs) duplication not provided [RCV001269800] ChrX:13767261..13767262 [GRCh38]
ChrX:13785380..13785381 [GRCh37]
ChrX:Xp22.2
likely pathogenic
NM_003611.3(OFD1):c.935+4A>G single nucleotide variant Orofaciodigital syndrome I [RCV001333141] ChrX:13749537 [GRCh38]
ChrX:13767656 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_003611.3(OFD1):c.1347A>G (p.Ala449=) single nucleotide variant not provided [RCV001288315] ChrX:13756703 [GRCh38]
ChrX:13774822 [GRCh37]
ChrX:Xp22.2
likely benign
NC_000023.10:g.(?_13753185)_(13787232_?)dup duplication Joubert syndrome [RCV001343837] ChrX:13753185..13787232 [GRCh37]
ChrX:Xp22.2
uncertain significance
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56457794)x1 copy number loss not provided [RCV001281358] ChrX:168546..56457794 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_003611.3(OFD1):c.2757+4dup duplication Joubert syndrome [RCV001322101] ChrX:13767286..13767287 [GRCh38]
ChrX:13785405..13785406 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_003611.3(OFD1):c.1640A>G (p.Lys547Arg) single nucleotide variant Orofaciodigital syndrome I [RCV001331084] ChrX:13758434 [GRCh38]
ChrX:13776553 [GRCh37]
ChrX:Xp22.2
likely pathogenic
NM_003611.3(OFD1):c.3021A>T (p.Glu1007Asp) single nucleotide variant Joubert syndrome [RCV001349914] ChrX:13769090 [GRCh38]
ChrX:13787209 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_003611.3(OFD1):c.1848G>A (p.Val616=) single nucleotide variant Joubert syndrome [RCV001339477] ChrX:13760308 [GRCh38]
ChrX:13778427 [GRCh37]
ChrX:Xp22.2
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:2567 AgrOrtholog
COSMIC OFD1 COSMIC
Ensembl Genes ENSG00000046651 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000344314 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000369923 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000369941 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000381432 UniProtKB/TrEMBL
Ensembl Transcript ENST00000340096 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000380550 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000380567 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000398395 UniProtKB/TrEMBL
  ENST00000490265 ENTREZGENE
GTEx ENSG00000046651 GTEx
HGNC ID HGNC:2567 ENTREZGENE
Human Proteome Map OFD1 Human Proteome Map
InterPro LisH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:8481 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 8481 ENTREZGENE
OMIM 300170 OMIM
  300209 OMIM
  300424 OMIM
  300804 OMIM
  311200 OMIM
Pfam LisH_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL